Objective To observe the value of long TR three-dimensional inversion recovery sequence with real reconstruction(3D real IR)for quantifying inner ear endolymphatic hydrops(EH).Methods Totally 46 Ménière'...Objective To observe the value of long TR three-dimensional inversion recovery sequence with real reconstruction(3D real IR)for quantifying inner ear endolymphatic hydrops(EH).Methods Totally 46 Ménière's disease(MD)patients and 21 healthy volunteers were prospectively enrolled.MR scanning for inner ear based on 3D real IR and 3D fluid attenuated inversion recovery(3D FLAIR)sequence 4—6 h after administration of contrast agents were performed.The imaging qualities were scored and compared between groups.The endolymphatic space area and the membranous labyrinth area of cochlea and vestibule,as well as endolymph/membranous labyrinth area percentage were calculated,the present or not of EH and the grade of EH were evaluated.EH inner ears of MD patients were enrolled in EH group,while inner ears of healthy volunteers were taken as controls(control group).The endolymphatic space area,membranous labyrinth area and endolymph/membranous labyrinth area percentage of cochlea and vestibule were compared between groups.The receiver operating characteristic(ROC)curve was drawn to calculate the diagnostic efficacy of the above indexes.Results Cochlear and/or vestibular EH were detected in 56 ears,including cochlear EH in 52 ears and vestibular EH in 45 ears among 46 MD patients(EH group),but not in 42 ears in control group.The subjective quality scores of 3D real IR images were higher than those of 3D-FLAIR(both P<0.05).Quantitative analysis based on 3D real IR images revealed that,compared with control group,significantly larger endolymph areas and endolymph/membranous labyrinth area percentages in both cochlea and vestibule were found in EH group(all P<0.001).The area under the curve(AUC)of cochlear or vestibular endolymph/membranous labyrinth area percentage for identifying inner ear EH was 0.999 and 0.985,respectively.Taken 13.64%and 24.13%as the critical value of cochlear or vestibular endolymph,the specificity was 100%and 92.86%,respectively,and the sensitivity was 96.43%and 96.43%,respectively.Conclusion MR long TR 3D real IR was helpful to quantifying inner ear EH.展开更多
BACKGROUND: Gestational trophoblastic disease (GTD) is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GT...BACKGROUND: Gestational trophoblastic disease (GTD) is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GTD. Differential diagnosis of GTD is sometimes problematic. Recently, p53 expression was identified as a good marker for distinguishing GTD types. ALMS: Comparison of p53 expression in partial hydatidiform mole (PHM) and hydropic abortion. METHODS: In this prospective cross-sectional study, molar and non-molar hydropic pregnancy specimens were collected. Immunohistochemical staining, based on the Labeled Streptavidin Biotin (LSAB) technique, was carried out on multiple 4 Ixm paraffin block sections prepared from formalin-fixed trophoblastic tissues. Polymer-based Envision was used to assess p53 tumor suppressor protein immunoreactivity, p53 expression was then compared between both groups. RESULTS: In the study, 40 patients were included: 20 with confirmed PHM and 20 with hydropic pregnancy, p53 protein was positive in 60% of patients with PHM and 25% of patients with hydropic pregnancy. The p53 positive rate was significantly higher in patients with PHM (p = 0.027). Moreover, patients with PHM had a significantly high grade of staining (p 〈 0.001). CONCLUSION: Our findings indicate that immunohistochemical analysis of p53 protein can be used to distinguish PHM and hydropic pregnancy.展开更多
Background:Intratympanic administration of gadolinium chelate allows for a better visualization of endolymphatic hydrops(EH)using MRI than intravenous injection and was recently further improved to facilitate high-qua...Background:Intratympanic administration of gadolinium chelate allows for a better visualization of endolymphatic hydrops(EH)using MRI than intravenous injection and was recently further improved to facilitate high-quality imaging of EH in 7 min.The aim of the present study was to simplify the intratympanic administration protocol by mixing gadolinium chelate with therapeutic dexamethasone and to evaluate the effects of this mixture on the visualization of EH in MRI.Materials and methods:In an in vitro study,the potential impact of gadolinium-diethylenetriamine pentaacetic acid(Gd-DTPA)on the stability of dexamethasone was evaluated by analyzing dynamic changes in dexamethasone with high-performance liquid chromatography(HPLC)after mixing with GdDTPA.Ten patients with definite Meniere's disease(MD)were recruited to study the potential interference of dexamethasone on MRI visualization of EH,and 49 patients with MD were recruited to evaluate the effect of intratympanic injection of Gd-DTPA mixed with dexamethasone on MRI of EH using a 3T MR machine and a novel heavily T2-weighted 3-dimensional fluid-attenuated inversion recovery reconstructed using a magnitude plus zero-filled interpolation(hT2FLAIR-MZFI)sequence.Results:The retention times and peak area of dexamethasone in HPLC were not modified by the addition of Gd-DTPA.EH grading in the cochlea and vestibule was not influenced in any ear by intratympanic injection of dexamethasone.Excellent inner ear images were obtained from all patients,and EHs with various grades were displayed.There were significant correlations between diagnosis and cochlear EH(p<0.01,Spearman's Rho),between diagnosis and vestibular EH(p<0.01,Spearman's Rho),and between cochlear and vestibular EH(p<0.01,Spearman's Rho).The distribution of Gd-DTPA plus dexamethasone negatively correlated with the grade of vestibular EH.Injury of the endolymph-perilymph barrier was detected in one cochlea and three vestibules of 59 inner ears with MD.Conclusions:Intratympanic administration of Gd-DTPA plus dexamethasone yielded high-quality MRI images of EH in patients with MD using a novel 7-min protocol and simplified the clinical application.Intratympanic administration of Gd-DTPA plus dexamethasone might be used to test its therapeutic effect in future work.展开更多
The purpose of this study was to investigate the presence of endolymphatic hydrops(EH)in both affected and unaffected ears of patients with pantonal unilateral idiopathic sudden sensorineural hearing loss(ISSNHL)using...The purpose of this study was to investigate the presence of endolymphatic hydrops(EH)in both affected and unaffected ears of patients with pantonal unilateral idiopathic sudden sensorineural hearing loss(ISSNHL)using three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging(3D-FLAIR MRI)and further evaluate the significance of EH in this disorder.Twenty-seven ISSHL patients were enrolled in this study.3D-FLAIR MRI was performed 24 h after intratympanic injection of gadolinium-diethylenetriaminepentaacetic acid(Gd-DPTA).The incidences of EH in the affected ears and contralateral unaffected ears were compared and the correlations of EH with vertigo or prognosis were analyzed using the Chi-square test.The results showed that the incidence of EH was 68.0%(17/25)in the affected ears and 34.8%(8/23)in the unaffected ears.There was a statistically significant difference between affected ears and unaffected ears in regard to the incidence of EH(P<0.05).There were no significant correlations of EH with vertigo(P=1.000)or with prognosis(P=0.359)in the affected ears.In conclusion,there is EH in the inner ear of patients with pantonal ISSNHL;EH is not related to vertigo,a concomitant symptom of ISSNHL,and the prognosis of this condition.The presence of EH may be a secondary reaction following the impairment of the inner ears with pantonal ISSNHL.展开更多
·AIM:To evaluate the efficacy and safety of full-thickness sutures combined with intracameral air injection(FTS-AI)versus pre-Descemet’s membrane sutures combined with intracameral air injection(PDS-AI)in the ma...·AIM:To evaluate the efficacy and safety of full-thickness sutures combined with intracameral air injection(FTS-AI)versus pre-Descemet’s membrane sutures combined with intracameral air injection(PDS-AI)in the management of acute corneal hydrops in keratoconus.·METHODS:The research included 8 patients(8 eyes)suffering from acute corneal hydrops caused by keratoconus.Four patients were randomly assigned to FTS-AI.And the other four were randomly assigned to PDS-AI.Corneal oedema,visual acuity,corneal thickness were assessed during follow-up.·RESULTS:The demographics,preoperative duration of symptoms and severity of corneal hydrops between the two groups were not significantly different.The mean corneal oedema resolution time after FTS-AI and PDSAI were 11±1.15 and 15±1.41 d,respectively(P=0.005).The maximum corneal thickness of the scarred region decreased in both groups at one week postoperatively(P<0.05).No obvious difference was found in the mean maximal corneal thickness between the two groups postoperatively.The BCVA improved significantly after FTS-AI and PDS-AI at three months postoperatively.No obvious difference was found in the BCVA after FTS-AI and PDS-AI at three months postoperatively.·CONCLUSION:FTS-AI and PDS-AI are safe and effective therapies to accelerate the resolution of corneal oedema in acute corneal hydrops secondary to keratoconus.Despite faster resolution of corneal oedema in the FTS-AI group,we recommend PDS-AI to avoid potential endothelium cell damage.展开更多
Fetal arrhythmias reach up around 10%of the total third-level perinatal cardiology references.Sustained bradycardia is defined as a baseline fetal heart rate(FHR)of less than 110 bpm sustained for at least 10 min.The ...Fetal arrhythmias reach up around 10%of the total third-level perinatal cardiology references.Sustained bradycardia is defined as a baseline fetal heart rate(FHR)of less than 110 bpm sustained for at least 10 min.The overall incidence of malignant fetal bradyarrhythmias,such as complete atrioventricular block(AVB)and channellopathies,is relatively rare,1:5000 pregnancies,but represents a serious emergency for the gynecologist,neonatologists,and pediatric cardiologists.Fetal complete AVB is strongly associated with maternal connective tissue disease,but it can be also associated with congenital heart disease and usually with a poorer prognosis with high risk of fetal hydrops and abortion.Currently,the treatment of severe fetal bradyarrhythmias is principally pharmacological and aims to increase the FHR,besides an early resolution of underlying causes,when possible,and a promptly management of fetal heart failure.Intrauterine electrostimulation nowadays is an experimental pioneering method,reserved for limited selected cases.展开更多
Purpose:To investigate the correlation between vestibular hydrops(VH),cochlearhydrops(CH),vestibular aqueduct non-visibility(VANV),and visually increased perilymphatic enhancement(VIPE)with the findings of pure-tone a...Purpose:To investigate the correlation between vestibular hydrops(VH),cochlearhydrops(CH),vestibular aqueduct non-visibility(VANV),and visually increased perilymphatic enhancement(VIPE)with the findings of pure-tone audiometry(PTA)in Meniere’s disease(MD)patients.Methods:In this cross-sectional study,53 ears belonging to 48 patients were divided into two groups and evaluated.In group“MD patients,”there were 24 ears of 19 patients diagnosed with the definite MD(14 patients with unilateral and 5 patients withbilateral involvements).The“control group”consisted of 29 non-symptomatic ears belonging to patients diagnosed with unilateral sudden sensory-neural hearing loss or unilateral schwannoma.All the patients underwent 2 sessions of temporal bone MRI using the same 3T system:an unenhanced axial T1,T2,and 3D-FLAIR MRI,an intravenous gadoliniumenhanced axial T1 fat-sat,and 4 h after the injection,an axial 3D-T2 cube and 3D-FLAIR session.VH,CH,VANV,and VIPE were assessed.Subsequently,the correlation between EH indices and PTA findings(in three frequency domains of low,middle,and high)were evaluated,and the predictive value of MRI was calculated.Results:VH was significantly correlated with the hearing threshold in the low,middle,and highfrequency domains.CH was also correlated with the hearing threshold in the low and middle domains.Contrarily,VIPE was not associated with hearing thresholds,and VANV was only correlated with the hearing threshold in low frequencies.Conclusion:The grade of VH,CH,and VANV were significantly correlated with the hearing thresholds in PTA.展开更多
Aimed to test the hypothesis that endolymphatic hydrops in Meniere's disease(MD) may be secondary to otitis media, history of a patient who developed MD as a complication of otitis media was reviewed. The inner ea...Aimed to test the hypothesis that endolymphatic hydrops in Meniere's disease(MD) may be secondary to otitis media, history of a patient who developed MD as a complication of otitis media was reviewed. The inner ear was imaged using a 3.0 Tesla MR system post-intravenous injection of gadolinium-tetraazacyclododecane-tetraacetic acid(Gd-DOTA) in a standard single dosage(0.1 mmol/kg). Both t2-spc-rst-tra-iso(T2-weighted) and heavily T2-weighted 3-dimensional fluid-attenuated inversion recovery magnetic resonance imaging [h T(2)W-3D-FLAIR] sequences were applied. As a result, in the T2-weighted images, the perilymph and endolymph, cerebrospinal fluid surrounding the eighth nerve(N8), and middle ear granulation tissue showed intense signals. In the h T(2)W-3D-FLAIR images, evident enhancement by Gd-DOTA was observed in the middle ear cavity and the perilymphatic compartments of the cochlea. Cochlear endolymphatic hydrops was implicated by the enlarged scala media in the basalturn. In general, the Gd-DOTA uptake in the vestibule was weak, and signs of vestibular endolymphatic hydrops were obvious. The N8 on the diseased side was also significantly enhanced. To conclude, endolymphatic hydrops in MD may be induced by otitis media. Cochlear endolymphatic hydrops in MD secondary to otitis media may not follow the classical pattern.展开更多
Objective: To determine the breadth of Zika virus(ZIKV)-associated brain anomalies in neonates and adults. Methods: Systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Met...Objective: To determine the breadth of Zika virus(ZIKV)-associated brain anomalies in neonates and adults. Methods: Systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA) statement using electronic databases ScienceDirect, Pubmed, Medline, Scopus, and Global Health Library.Only those research articles, case studies, case-control studies, case-cohort studies, crosssectional studies, and organizational survey reports were included in the study that reported any fetal outcomes for pregnant women who had infected with ZIKV during the gestational period and ZIKV-related neurological complications in adults as well. Results: Out of total 72 retrieved articles, 50 met the inclusion criteria. We estimated a significant increase in incidence of neural abnormalities such as Guillain-Barre syndrome and microcephaly in the regions that are experiencing ZIKV outbreaks. Other neurological malformations found in ZIKV patients include hydrancephaly/hydrops fetalis, myasthenia gravis,meningoencephalitis and myelitis. Conclusion: Our systematic analysis provides the broad spectrum of neurological malformations in ZIKV infected patients and these data further support the causal link of ZIKV with neurological disorders.展开更多
AIM:To observe the efficacy of simplified one-step thermokeratoplasty for the treatment of severe acute corneal hydrops in keratoconus.METHODS:In this retrospective,noncomparative clinical study,10 patients(10 eyes) w...AIM:To observe the efficacy of simplified one-step thermokeratoplasty for the treatment of severe acute corneal hydrops in keratoconus.METHODS:In this retrospective,noncomparative clinical study,10 patients(10 eyes) with acute hydrops in keratoconus were treated with simplified one-step thermokeratoplasty.Pain,changes in the corneal curvature,thickness,and size and morphology of the Descemet membrane breaks were detected before and after surgery.Eight patients were successfully treated using modified deep anterior lamellar keratoplasty(DALK).Graft transparency,visual acuity,and immunological rejection were evaluated for 6 to 12mo.RESULTS:Pain and corneal oedema were promptly alleviated,and the intrastromal ruptures diminished within 3 to 6wk after thermokeratoplasty.At 3 to 6wk after corneal oedema was faded,Descemet membrane breaks and intrastromal ruptures were healed.Two patients did not undergo subsequent corneal transplantation after thermokeratoplasty.Eight patients underwent DALK successfully and safely after thermokeratoplasty,without corneal perforation.Central corneal opacity faded or disappeared within 6mo.The mean best-corrected visual acuity was increased to 20/30 at 12mo after DALK.No one was observed with any immune rejection.CONCLUSION:One-step thermokeratoplasty can successfully and efficiently accelerate the absorption of prominent corneal oedema in severe acute hydrops patients.This simple procedure with no complications can be performed in the emergency department by residents.This method can improve the safety of DALK and obtain good postoperative vision.Long-term management of acute corneal hydrops using simplified one-step thermokeratoplasty seems promising.展开更多
BACKGROUND Fetal hydrops is a serious condition difficult to manage,often with a poor prognosis,and it is characterized by the collection of fluid in the extravascular compartments.Before 1968,the most frequent cause ...BACKGROUND Fetal hydrops is a serious condition difficult to manage,often with a poor prognosis,and it is characterized by the collection of fluid in the extravascular compartments.Before 1968,the most frequent cause was the maternal-fetal Rh incompatibility.Today,90%of the cases are non-immune hydrops fetalis.Multiple fetal anatomic and functional disorders can cause non-immune hydrops fetalis and the pathogenesis is incompletely understood.Etiology varies from viral infections to heart disease,chromosomal abnormalities,hematological and autoimmune causes.CASE SUMMARY A 38-year-old pregnant woman has neck lymphoadenomegaly,fever,cough,tonsillar plaques at 14 wk of amenorrhea and a rash with widespread itching.At 27.5 wk a fetal ultrasound shows signs of severe anemia and hydrops.Cordocentesis is performed with confirmation of severe fetal anemia and subsequent fetal transfusion.The karyotype is 46,XX,array-comparative genome hybridization(CGH)negative,and infectious tests are not conclusive.In the following days there is a progressive improvement of the indirect signs of fetal anemia.At 33.6 wk,for relapse of severe fetal anemia,further fetal transfusions are necessary and an urgent cesarean section is performed.On the day 12 of life,for the detection of anemia,the newborn is subjected to transfusion of concentrated red blood cells and begins treatment with erythropoietin.Later there is a normalization of blood chemistry values and the baby does not need new transfusions.A 29-year-old pregnant woman,with Sjogren's syndrome and positive Anti-Ro/SSA antibodies,is subjected to serial fetal ecocardio for branch block.At 26.5 wk there is a finding of fetal ascites.Infectious disease tests on amniotic fluid are negative as well as quantitative fluorescent polymerase chain reaction,Array CGH.At cordocentesis Hb is 1.3 mmol/L,consequently fetal transfusion is performed.Also in this case,due to continuous episodes of relapse of fetal anemia with consequent transfusions,at 29.4 wk a cesarean section is performed.On day 9 of life,a treatment with erythropoietin is started in the newborn,but the baby needs three blood transfusions.The search for autoantibodies in the baby found SS-A Ro60 positive,SSA-Ro52 positive and SS-B negative.The hemoglobin values normalized after the disappearance of maternal autoantibodies.CONCLUSION An attempt to determine the etiology of hydrops should be made at the time of diagnosis because the goal is to treat underlying cause,whenever possible.Even if the infectious examinations are not conclusive,but the pregnancy history is strongly suggestive of infection as in the first case,the infectious etiology must not be excluded.In the second case,instead,transplacental passage of maternal autoantibodies caused hydrops fetalis and severe anemia.Finally,obstetric management must be aimed at fetal support up to an optimal timing for delivery by evaluating risks and benefits to increase the chances of survival without sequelae.展开更多
Objective To study the role of diuretic agents in treating sudden deafness (SD) and explore the possibility of endolymphatic hydrops as a potential cause of SD. Methods Twenty-eight SD cases were reviewed. In 23 cases...Objective To study the role of diuretic agents in treating sudden deafness (SD) and explore the possibility of endolymphatic hydrops as a potential cause of SD. Methods Twenty-eight SD cases were reviewed. In 23 cases, treatment was initiated with routine agents. Diuretic agents were later added in 8 of these cases that failed to respond to routine treatment agents. Diuretic agents were included in the initial treatment in the rest 5 cases. In total, 13 cases received diuretics in addition to routine treatment agents and 15 cases received conventional treatment only. Results In the 8 cases who received diuretics after failed conventional treatments, 4 showed hearing improvement, whereas all 5 cases in which diuretics were included in the initial treatment demonstrated hearing improvement. Conclusion These results suggest a possible role of endolymphatic hydrops in the pathophysiologic course of SD. Diuretics should be considered when clear indications exist with no conflicts to other medical conditions.展开更多
Background:Contralateral delayed endolymphatic hydrops(CDEH)is a clinical entity characterized by fluctuating low frequency hearing loss and/or vertigo,mimicking Meniere’s disease(MD),that manifests after the appeara...Background:Contralateral delayed endolymphatic hydrops(CDEH)is a clinical entity characterized by fluctuating low frequency hearing loss and/or vertigo,mimicking Meniere’s disease(MD),that manifests after the appearance of severe non-hydropic hearing loss(NHHL)at the other ear.Objectives:to describe the clinical features and the course of 57 patients affected by CDEH.Method:this is a retrospective study;57 patients affected by CDEH,out of 1065 patients seen in the same period and affected by MD,were subjected to otoscopy,PTA threshold evaluation,impedance testing,ABR,research of positioning nystagmus,vestibular function evaluated by means of bithermal caloric test under video-oculographic,and MRI with gadolinium.Results:the CDEH was definite in 24 cases(42%),probable in 2(4%)and possible in 31(54%).The mean PTA threshold at the hydropic ear was 41 dB.At the last follow-up,40 patients(70%)did not report vertigo or fluctuating hearing loss.Among the 17 patients who still reported symptomatology,11(64%)were affected by fluctuating hearing loss alone,4(23%)reported a subjective worsening of hearing loss and 2(12%)an acute vertigo crisis.Conclusions:contralateral delayed endolymphatic hydrops is a relatively rare form of Meniere disease that manifests more frequently as a definite form or with fluctuating low-frequency hearing loss.The prognosis at a long term follow-up is relatively good in terms of vertigo resolution.Contralateral delayed endolymphatic hydrops rarely determines a severe hearing loss in the better ear.展开更多
After discovering an inner ear hemorrhage, Prosper Menière ascribed disease to the inner ear for the first time. Since that time, a lot of efforts have been made to determine the pathophysiologic causes of the cl...After discovering an inner ear hemorrhage, Prosper Menière ascribed disease to the inner ear for the first time. Since that time, a lot of efforts have been made to determine the pathophysiologic causes of the classical symptoms sensorineural hearing loss, vertigo attacks, tinnitus and ear fullness. According to its express pattern Menière’s disease may appear as classical and atypical disease. In the last decades, huge advances have taken place in biochemical and physiological research and in pathophysiological understanding of the inner ear and its diseases. This encloses stimulus perception and conduction, regulation of inner-ear fuid homeostasis and inner ear diseases with underlying genetics. Menière’s disease pathophysiologic correlate is an endolymphatic hydrops which is characterized by changes of inner ear homeostasis with its parameters volume, concentration, osmolarity and pressure of the endolymph. Hormones, autonomous system and the immunsystem together with purinergic, adrenergic and muscarinic receptors, steroids, vasopressin, atrial natriuretic peptide and aquaporin channels regulate inner ear homeostasis. Consequently, general diagno-stics comprise a magnetic resonance imaging with gadolinium, vestibular diagnostics and tone audiometry. Standard therapy for acute inner ear symptoms is limited to cortisone infusions together with a rheologic agent or a radical scavenger. For acute vertigo attacks and for the mainstay therapy antivertiginous pharmaceuticals are given. In severe cases destruction of the vestibular hair cells by ototoxic antibiotics, endolymphatic sac surgery or neurectomy of the vestibular nerve might be necessary. Certainly, in research there is a move from simple pharmaceutical therapy forward to nanoparticle-based, genetic-based and stem cell therapy.展开更多
About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesi...About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with biorepository of developmental defects cases for future research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, proteomics, metabolomics, platforms.展开更多
Electrocochleography (ECoG) has been an important tool in the diagnosis of Meniere’s disease or endolymphatic hydrops. There are two methods employed, transtympanic and extratympanic. Many have regarded the results o...Electrocochleography (ECoG) has been an important tool in the diagnosis of Meniere’s disease or endolymphatic hydrops. There are two methods employed, transtympanic and extratympanic. Many have regarded the results of these methods as being equally reliable. The purpose of this study is to determine any differences in sensitivity between the two methods. In this study patients with known endolymphatic hydrops or Meniere’s disease underwent ECoG testing with both the extratympanic method and the transtympanic method on the same day in the same ear. The results show a significant difference between the two methods, with the transtympanic wave values being smaller and therefore more sensitive than the extratympanic method. In addition, transtympanic ECoG resulted in better waveform morphology and better correlation with the audiometric findings in endolymphatic hydrops and Meniere’s disease. The results emphasize the superior role of transtympanic ECoG over extratympanic ECoG as a valuable component in the confirmation of Meniere’s disease or endolymphatic hydrops along with history and audiometric findings characteristic of the disease. Implications of the study promote the use of transtympanic ECoG rather than extratympanic ECoG in patients with symptoms suggestive of Meniere’s disease or endolymphatic hydrops.展开更多
Primary infection with parvovirus B19 is an uncommon but serious and treatable cause of chronic anemia in immuno compromised hosts. Widely distributed, it is responsible for a wide range of clinical manifestations, th...Primary infection with parvovirus B19 is an uncommon but serious and treatable cause of chronic anemia in immuno compromised hosts. Widely distributed, it is responsible for a wide range of clinical manifestations, the characteristics and outcome of which depend on the interaction between the viral properties and the physiological and immune status of the infected individuals.<span "=""> </span><span>Infection during pregnancy can result in fetal anemia, abortion, and hydrops. Pregnancy does not appear to affect the course of the infection, but the infection may affect the pregnancy. The diagnosis of B19V can be made by serological and molecular investigation of the mother, fetus and newborn.</span><span "=""> </span><span>In these conditions, it seemed necessary </span><span>for</span><span> us to answer in this article the various questions raised by the occurrence of a contagion and/or an infection with Parvovirus B19 during pregnancy.</span><span "=""> </span><span>Our objective was to determine at first the nature and the main characteristics of Parvovirus B19 as well as its propagation during the pregnancy and to show its risk for the pregnant woman and her fetus. The importance of the subject is proven by the data on the spread and incidence of the virus.</span><span "=""> </span><span>Worldwide, the focus on pregnancy is due to the additional potentially fatal effects on the fetus. This document covers the important aspects of a medical investigation: causes, symptoms, tests and diagnosis.展开更多
Approximately 75%of lymphangiomas manifest in the head and neck region,with limb and bone involvement observed in only 2%of cases.This case report presents a rare instance of fetal lymphangioma associated with hydrops...Approximately 75%of lymphangiomas manifest in the head and neck region,with limb and bone involvement observed in only 2%of cases.This case report presents a rare instance of fetal lymphangioma associated with hydrops fetalis,affecting the left lower extremity and abdomen.A 22-year-old secundigravida woman was referred to the gynecology department at 31.2 weeks of gestation.Initial fetal ultrasound revealed a live fetus with a large lymphangioma involving the left lower extremity,gluteal region,and abdomen.Additional ultrasound findings included subcutaneous edema,pericardial effusion,ascites,placentomegaly,and tricuspid regurgitation.Postnatal clinical examination confirmed the diagnosis of lymphatic malformation.Notably,only one other similar case has been reported in the English-language PubMed database.This report adds to the medical literature as a rare instance of prenatally diagnosed lymphangioma-associated hydrops fetalis.展开更多
Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders...Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and more.In a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune etiology.The mother,Rhesus negative,presented with a history of adverse obstetric events.At 21 weeks,the current fetus was diagnosed with hydrops.Maternal blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D,anti-C,and anti-E antibodies.Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL.Despite administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary masses.Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene.Furthermore,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before.This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops.We describe some of the diagnostic challenges faced in clinical management of this case.展开更多
文摘Objective To observe the value of long TR three-dimensional inversion recovery sequence with real reconstruction(3D real IR)for quantifying inner ear endolymphatic hydrops(EH).Methods Totally 46 Ménière's disease(MD)patients and 21 healthy volunteers were prospectively enrolled.MR scanning for inner ear based on 3D real IR and 3D fluid attenuated inversion recovery(3D FLAIR)sequence 4—6 h after administration of contrast agents were performed.The imaging qualities were scored and compared between groups.The endolymphatic space area and the membranous labyrinth area of cochlea and vestibule,as well as endolymph/membranous labyrinth area percentage were calculated,the present or not of EH and the grade of EH were evaluated.EH inner ears of MD patients were enrolled in EH group,while inner ears of healthy volunteers were taken as controls(control group).The endolymphatic space area,membranous labyrinth area and endolymph/membranous labyrinth area percentage of cochlea and vestibule were compared between groups.The receiver operating characteristic(ROC)curve was drawn to calculate the diagnostic efficacy of the above indexes.Results Cochlear and/or vestibular EH were detected in 56 ears,including cochlear EH in 52 ears and vestibular EH in 45 ears among 46 MD patients(EH group),but not in 42 ears in control group.The subjective quality scores of 3D real IR images were higher than those of 3D-FLAIR(both P<0.05).Quantitative analysis based on 3D real IR images revealed that,compared with control group,significantly larger endolymph areas and endolymph/membranous labyrinth area percentages in both cochlea and vestibule were found in EH group(all P<0.001).The area under the curve(AUC)of cochlear or vestibular endolymph/membranous labyrinth area percentage for identifying inner ear EH was 0.999 and 0.985,respectively.Taken 13.64%and 24.13%as the critical value of cochlear or vestibular endolymph,the specificity was 100%and 92.86%,respectively,and the sensitivity was 96.43%and 96.43%,respectively.Conclusion MR long TR 3D real IR was helpful to quantifying inner ear EH.
文摘BACKGROUND: Gestational trophoblastic disease (GTD) is a heterogeneous group of disorders characterized by abnormal trophoblast tissue. Molar and non-molar hydropic placental changes are the most common forms of GTD. Differential diagnosis of GTD is sometimes problematic. Recently, p53 expression was identified as a good marker for distinguishing GTD types. ALMS: Comparison of p53 expression in partial hydatidiform mole (PHM) and hydropic abortion. METHODS: In this prospective cross-sectional study, molar and non-molar hydropic pregnancy specimens were collected. Immunohistochemical staining, based on the Labeled Streptavidin Biotin (LSAB) technique, was carried out on multiple 4 Ixm paraffin block sections prepared from formalin-fixed trophoblastic tissues. Polymer-based Envision was used to assess p53 tumor suppressor protein immunoreactivity, p53 expression was then compared between both groups. RESULTS: In the study, 40 patients were included: 20 with confirmed PHM and 20 with hydropic pregnancy, p53 protein was positive in 60% of patients with PHM and 25% of patients with hydropic pregnancy. The p53 positive rate was significantly higher in patients with PHM (p = 0.027). Moreover, patients with PHM had a significantly high grade of staining (p 〈 0.001). CONCLUSION: Our findings indicate that immunohistochemical analysis of p53 protein can be used to distinguish PHM and hydropic pregnancy.
基金supported by the National Natural Science Foundation of China (81771006)
文摘Background:Intratympanic administration of gadolinium chelate allows for a better visualization of endolymphatic hydrops(EH)using MRI than intravenous injection and was recently further improved to facilitate high-quality imaging of EH in 7 min.The aim of the present study was to simplify the intratympanic administration protocol by mixing gadolinium chelate with therapeutic dexamethasone and to evaluate the effects of this mixture on the visualization of EH in MRI.Materials and methods:In an in vitro study,the potential impact of gadolinium-diethylenetriamine pentaacetic acid(Gd-DTPA)on the stability of dexamethasone was evaluated by analyzing dynamic changes in dexamethasone with high-performance liquid chromatography(HPLC)after mixing with GdDTPA.Ten patients with definite Meniere's disease(MD)were recruited to study the potential interference of dexamethasone on MRI visualization of EH,and 49 patients with MD were recruited to evaluate the effect of intratympanic injection of Gd-DTPA mixed with dexamethasone on MRI of EH using a 3T MR machine and a novel heavily T2-weighted 3-dimensional fluid-attenuated inversion recovery reconstructed using a magnitude plus zero-filled interpolation(hT2FLAIR-MZFI)sequence.Results:The retention times and peak area of dexamethasone in HPLC were not modified by the addition of Gd-DTPA.EH grading in the cochlea and vestibule was not influenced in any ear by intratympanic injection of dexamethasone.Excellent inner ear images were obtained from all patients,and EHs with various grades were displayed.There were significant correlations between diagnosis and cochlear EH(p<0.01,Spearman's Rho),between diagnosis and vestibular EH(p<0.01,Spearman's Rho),and between cochlear and vestibular EH(p<0.01,Spearman's Rho).The distribution of Gd-DTPA plus dexamethasone negatively correlated with the grade of vestibular EH.Injury of the endolymph-perilymph barrier was detected in one cochlea and three vestibules of 59 inner ears with MD.Conclusions:Intratympanic administration of Gd-DTPA plus dexamethasone yielded high-quality MRI images of EH in patients with MD using a novel 7-min protocol and simplified the clinical application.Intratympanic administration of Gd-DTPA plus dexamethasone might be used to test its therapeutic effect in future work.
基金the National Natural Science Foundation of China(Nos.81271072,81700909).
文摘The purpose of this study was to investigate the presence of endolymphatic hydrops(EH)in both affected and unaffected ears of patients with pantonal unilateral idiopathic sudden sensorineural hearing loss(ISSNHL)using three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging(3D-FLAIR MRI)and further evaluate the significance of EH in this disorder.Twenty-seven ISSHL patients were enrolled in this study.3D-FLAIR MRI was performed 24 h after intratympanic injection of gadolinium-diethylenetriaminepentaacetic acid(Gd-DPTA).The incidences of EH in the affected ears and contralateral unaffected ears were compared and the correlations of EH with vertigo or prognosis were analyzed using the Chi-square test.The results showed that the incidence of EH was 68.0%(17/25)in the affected ears and 34.8%(8/23)in the unaffected ears.There was a statistically significant difference between affected ears and unaffected ears in regard to the incidence of EH(P<0.05).There were no significant correlations of EH with vertigo(P=1.000)or with prognosis(P=0.359)in the affected ears.In conclusion,there is EH in the inner ear of patients with pantonal ISSNHL;EH is not related to vertigo,a concomitant symptom of ISSNHL,and the prognosis of this condition.The presence of EH may be a secondary reaction following the impairment of the inner ears with pantonal ISSNHL.
基金Supported by the National Natural Science Foundation of China(No.82070920)Major Clinical Research Projects of the Three-Year Action Plan for Promoting Clinical Skills and Clinical Innovation in Municipal Hospitals(No.SHDC2020CR1043B-010)。
文摘·AIM:To evaluate the efficacy and safety of full-thickness sutures combined with intracameral air injection(FTS-AI)versus pre-Descemet’s membrane sutures combined with intracameral air injection(PDS-AI)in the management of acute corneal hydrops in keratoconus.·METHODS:The research included 8 patients(8 eyes)suffering from acute corneal hydrops caused by keratoconus.Four patients were randomly assigned to FTS-AI.And the other four were randomly assigned to PDS-AI.Corneal oedema,visual acuity,corneal thickness were assessed during follow-up.·RESULTS:The demographics,preoperative duration of symptoms and severity of corneal hydrops between the two groups were not significantly different.The mean corneal oedema resolution time after FTS-AI and PDSAI were 11±1.15 and 15±1.41 d,respectively(P=0.005).The maximum corneal thickness of the scarred region decreased in both groups at one week postoperatively(P<0.05).No obvious difference was found in the mean maximal corneal thickness between the two groups postoperatively.The BCVA improved significantly after FTS-AI and PDS-AI at three months postoperatively.No obvious difference was found in the BCVA after FTS-AI and PDS-AI at three months postoperatively.·CONCLUSION:FTS-AI and PDS-AI are safe and effective therapies to accelerate the resolution of corneal oedema in acute corneal hydrops secondary to keratoconus.Despite faster resolution of corneal oedema in the FTS-AI group,we recommend PDS-AI to avoid potential endothelium cell damage.
文摘Fetal arrhythmias reach up around 10%of the total third-level perinatal cardiology references.Sustained bradycardia is defined as a baseline fetal heart rate(FHR)of less than 110 bpm sustained for at least 10 min.The overall incidence of malignant fetal bradyarrhythmias,such as complete atrioventricular block(AVB)and channellopathies,is relatively rare,1:5000 pregnancies,but represents a serious emergency for the gynecologist,neonatologists,and pediatric cardiologists.Fetal complete AVB is strongly associated with maternal connective tissue disease,but it can be also associated with congenital heart disease and usually with a poorer prognosis with high risk of fetal hydrops and abortion.Currently,the treatment of severe fetal bradyarrhythmias is principally pharmacological and aims to increase the FHR,besides an early resolution of underlying causes,when possible,and a promptly management of fetal heart failure.Intrauterine electrostimulation nowadays is an experimental pioneering method,reserved for limited selected cases.
文摘Purpose:To investigate the correlation between vestibular hydrops(VH),cochlearhydrops(CH),vestibular aqueduct non-visibility(VANV),and visually increased perilymphatic enhancement(VIPE)with the findings of pure-tone audiometry(PTA)in Meniere’s disease(MD)patients.Methods:In this cross-sectional study,53 ears belonging to 48 patients were divided into two groups and evaluated.In group“MD patients,”there were 24 ears of 19 patients diagnosed with the definite MD(14 patients with unilateral and 5 patients withbilateral involvements).The“control group”consisted of 29 non-symptomatic ears belonging to patients diagnosed with unilateral sudden sensory-neural hearing loss or unilateral schwannoma.All the patients underwent 2 sessions of temporal bone MRI using the same 3T system:an unenhanced axial T1,T2,and 3D-FLAIR MRI,an intravenous gadoliniumenhanced axial T1 fat-sat,and 4 h after the injection,an axial 3D-T2 cube and 3D-FLAIR session.VH,CH,VANV,and VIPE were assessed.Subsequently,the correlation between EH indices and PTA findings(in three frequency domains of low,middle,and high)were evaluated,and the predictive value of MRI was calculated.Results:VH was significantly correlated with the hearing threshold in the low,middle,and highfrequency domains.CH was also correlated with the hearing threshold in the low and middle domains.Contrarily,VIPE was not associated with hearing thresholds,and VANV was only correlated with the hearing threshold in low frequencies.Conclusion:The grade of VH,CH,and VANV were significantly correlated with the hearing thresholds in PTA.
基金Supported by The European Community 7th Framework Programme on Research,NanoV alid(Contract:263147)
文摘Aimed to test the hypothesis that endolymphatic hydrops in Meniere's disease(MD) may be secondary to otitis media, history of a patient who developed MD as a complication of otitis media was reviewed. The inner ear was imaged using a 3.0 Tesla MR system post-intravenous injection of gadolinium-tetraazacyclododecane-tetraacetic acid(Gd-DOTA) in a standard single dosage(0.1 mmol/kg). Both t2-spc-rst-tra-iso(T2-weighted) and heavily T2-weighted 3-dimensional fluid-attenuated inversion recovery magnetic resonance imaging [h T(2)W-3D-FLAIR] sequences were applied. As a result, in the T2-weighted images, the perilymph and endolymph, cerebrospinal fluid surrounding the eighth nerve(N8), and middle ear granulation tissue showed intense signals. In the h T(2)W-3D-FLAIR images, evident enhancement by Gd-DOTA was observed in the middle ear cavity and the perilymphatic compartments of the cochlea. Cochlear endolymphatic hydrops was implicated by the enlarged scala media in the basalturn. In general, the Gd-DOTA uptake in the vestibule was weak, and signs of vestibular endolymphatic hydrops were obvious. The N8 on the diseased side was also significantly enhanced. To conclude, endolymphatic hydrops in MD may be induced by otitis media. Cochlear endolymphatic hydrops in MD secondary to otitis media may not follow the classical pattern.
文摘Objective: To determine the breadth of Zika virus(ZIKV)-associated brain anomalies in neonates and adults. Methods: Systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA) statement using electronic databases ScienceDirect, Pubmed, Medline, Scopus, and Global Health Library.Only those research articles, case studies, case-control studies, case-cohort studies, crosssectional studies, and organizational survey reports were included in the study that reported any fetal outcomes for pregnant women who had infected with ZIKV during the gestational period and ZIKV-related neurological complications in adults as well. Results: Out of total 72 retrieved articles, 50 met the inclusion criteria. We estimated a significant increase in incidence of neural abnormalities such as Guillain-Barre syndrome and microcephaly in the regions that are experiencing ZIKV outbreaks. Other neurological malformations found in ZIKV patients include hydrancephaly/hydrops fetalis, myasthenia gravis,meningoencephalitis and myelitis. Conclusion: Our systematic analysis provides the broad spectrum of neurological malformations in ZIKV infected patients and these data further support the causal link of ZIKV with neurological disorders.
基金Supported by the National Natural Science Foundation of China (No.81700799)。
文摘AIM:To observe the efficacy of simplified one-step thermokeratoplasty for the treatment of severe acute corneal hydrops in keratoconus.METHODS:In this retrospective,noncomparative clinical study,10 patients(10 eyes) with acute hydrops in keratoconus were treated with simplified one-step thermokeratoplasty.Pain,changes in the corneal curvature,thickness,and size and morphology of the Descemet membrane breaks were detected before and after surgery.Eight patients were successfully treated using modified deep anterior lamellar keratoplasty(DALK).Graft transparency,visual acuity,and immunological rejection were evaluated for 6 to 12mo.RESULTS:Pain and corneal oedema were promptly alleviated,and the intrastromal ruptures diminished within 3 to 6wk after thermokeratoplasty.At 3 to 6wk after corneal oedema was faded,Descemet membrane breaks and intrastromal ruptures were healed.Two patients did not undergo subsequent corneal transplantation after thermokeratoplasty.Eight patients underwent DALK successfully and safely after thermokeratoplasty,without corneal perforation.Central corneal opacity faded or disappeared within 6mo.The mean best-corrected visual acuity was increased to 20/30 at 12mo after DALK.No one was observed with any immune rejection.CONCLUSION:One-step thermokeratoplasty can successfully and efficiently accelerate the absorption of prominent corneal oedema in severe acute hydrops patients.This simple procedure with no complications can be performed in the emergency department by residents.This method can improve the safety of DALK and obtain good postoperative vision.Long-term management of acute corneal hydrops using simplified one-step thermokeratoplasty seems promising.
文摘BACKGROUND Fetal hydrops is a serious condition difficult to manage,often with a poor prognosis,and it is characterized by the collection of fluid in the extravascular compartments.Before 1968,the most frequent cause was the maternal-fetal Rh incompatibility.Today,90%of the cases are non-immune hydrops fetalis.Multiple fetal anatomic and functional disorders can cause non-immune hydrops fetalis and the pathogenesis is incompletely understood.Etiology varies from viral infections to heart disease,chromosomal abnormalities,hematological and autoimmune causes.CASE SUMMARY A 38-year-old pregnant woman has neck lymphoadenomegaly,fever,cough,tonsillar plaques at 14 wk of amenorrhea and a rash with widespread itching.At 27.5 wk a fetal ultrasound shows signs of severe anemia and hydrops.Cordocentesis is performed with confirmation of severe fetal anemia and subsequent fetal transfusion.The karyotype is 46,XX,array-comparative genome hybridization(CGH)negative,and infectious tests are not conclusive.In the following days there is a progressive improvement of the indirect signs of fetal anemia.At 33.6 wk,for relapse of severe fetal anemia,further fetal transfusions are necessary and an urgent cesarean section is performed.On the day 12 of life,for the detection of anemia,the newborn is subjected to transfusion of concentrated red blood cells and begins treatment with erythropoietin.Later there is a normalization of blood chemistry values and the baby does not need new transfusions.A 29-year-old pregnant woman,with Sjogren's syndrome and positive Anti-Ro/SSA antibodies,is subjected to serial fetal ecocardio for branch block.At 26.5 wk there is a finding of fetal ascites.Infectious disease tests on amniotic fluid are negative as well as quantitative fluorescent polymerase chain reaction,Array CGH.At cordocentesis Hb is 1.3 mmol/L,consequently fetal transfusion is performed.Also in this case,due to continuous episodes of relapse of fetal anemia with consequent transfusions,at 29.4 wk a cesarean section is performed.On day 9 of life,a treatment with erythropoietin is started in the newborn,but the baby needs three blood transfusions.The search for autoantibodies in the baby found SS-A Ro60 positive,SSA-Ro52 positive and SS-B negative.The hemoglobin values normalized after the disappearance of maternal autoantibodies.CONCLUSION An attempt to determine the etiology of hydrops should be made at the time of diagnosis because the goal is to treat underlying cause,whenever possible.Even if the infectious examinations are not conclusive,but the pregnancy history is strongly suggestive of infection as in the first case,the infectious etiology must not be excluded.In the second case,instead,transplacental passage of maternal autoantibodies caused hydrops fetalis and severe anemia.Finally,obstetric management must be aimed at fetal support up to an optimal timing for delivery by evaluating risks and benefits to increase the chances of survival without sequelae.
文摘Objective To study the role of diuretic agents in treating sudden deafness (SD) and explore the possibility of endolymphatic hydrops as a potential cause of SD. Methods Twenty-eight SD cases were reviewed. In 23 cases, treatment was initiated with routine agents. Diuretic agents were later added in 8 of these cases that failed to respond to routine treatment agents. Diuretic agents were included in the initial treatment in the rest 5 cases. In total, 13 cases received diuretics in addition to routine treatment agents and 15 cases received conventional treatment only. Results In the 8 cases who received diuretics after failed conventional treatments, 4 showed hearing improvement, whereas all 5 cases in which diuretics were included in the initial treatment demonstrated hearing improvement. Conclusion These results suggest a possible role of endolymphatic hydrops in the pathophysiologic course of SD. Diuretics should be considered when clear indications exist with no conflicts to other medical conditions.
文摘Background:Contralateral delayed endolymphatic hydrops(CDEH)is a clinical entity characterized by fluctuating low frequency hearing loss and/or vertigo,mimicking Meniere’s disease(MD),that manifests after the appearance of severe non-hydropic hearing loss(NHHL)at the other ear.Objectives:to describe the clinical features and the course of 57 patients affected by CDEH.Method:this is a retrospective study;57 patients affected by CDEH,out of 1065 patients seen in the same period and affected by MD,were subjected to otoscopy,PTA threshold evaluation,impedance testing,ABR,research of positioning nystagmus,vestibular function evaluated by means of bithermal caloric test under video-oculographic,and MRI with gadolinium.Results:the CDEH was definite in 24 cases(42%),probable in 2(4%)and possible in 31(54%).The mean PTA threshold at the hydropic ear was 41 dB.At the last follow-up,40 patients(70%)did not report vertigo or fluctuating hearing loss.Among the 17 patients who still reported symptomatology,11(64%)were affected by fluctuating hearing loss alone,4(23%)reported a subjective worsening of hearing loss and 2(12%)an acute vertigo crisis.Conclusions:contralateral delayed endolymphatic hydrops is a relatively rare form of Meniere disease that manifests more frequently as a definite form or with fluctuating low-frequency hearing loss.The prognosis at a long term follow-up is relatively good in terms of vertigo resolution.Contralateral delayed endolymphatic hydrops rarely determines a severe hearing loss in the better ear.
文摘After discovering an inner ear hemorrhage, Prosper Menière ascribed disease to the inner ear for the first time. Since that time, a lot of efforts have been made to determine the pathophysiologic causes of the classical symptoms sensorineural hearing loss, vertigo attacks, tinnitus and ear fullness. According to its express pattern Menière’s disease may appear as classical and atypical disease. In the last decades, huge advances have taken place in biochemical and physiological research and in pathophysiological understanding of the inner ear and its diseases. This encloses stimulus perception and conduction, regulation of inner-ear fuid homeostasis and inner ear diseases with underlying genetics. Menière’s disease pathophysiologic correlate is an endolymphatic hydrops which is characterized by changes of inner ear homeostasis with its parameters volume, concentration, osmolarity and pressure of the endolymph. Hormones, autonomous system and the immunsystem together with purinergic, adrenergic and muscarinic receptors, steroids, vasopressin, atrial natriuretic peptide and aquaporin channels regulate inner ear homeostasis. Consequently, general diagno-stics comprise a magnetic resonance imaging with gadolinium, vestibular diagnostics and tone audiometry. Standard therapy for acute inner ear symptoms is limited to cortisone infusions together with a rheologic agent or a radical scavenger. For acute vertigo attacks and for the mainstay therapy antivertiginous pharmaceuticals are given. In severe cases destruction of the vestibular hair cells by ototoxic antibiotics, endolymphatic sac surgery or neurectomy of the vestibular nerve might be necessary. Certainly, in research there is a move from simple pharmaceutical therapy forward to nanoparticle-based, genetic-based and stem cell therapy.
文摘About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with biorepository of developmental defects cases for future research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, proteomics, metabolomics, platforms.
文摘Electrocochleography (ECoG) has been an important tool in the diagnosis of Meniere’s disease or endolymphatic hydrops. There are two methods employed, transtympanic and extratympanic. Many have regarded the results of these methods as being equally reliable. The purpose of this study is to determine any differences in sensitivity between the two methods. In this study patients with known endolymphatic hydrops or Meniere’s disease underwent ECoG testing with both the extratympanic method and the transtympanic method on the same day in the same ear. The results show a significant difference between the two methods, with the transtympanic wave values being smaller and therefore more sensitive than the extratympanic method. In addition, transtympanic ECoG resulted in better waveform morphology and better correlation with the audiometric findings in endolymphatic hydrops and Meniere’s disease. The results emphasize the superior role of transtympanic ECoG over extratympanic ECoG as a valuable component in the confirmation of Meniere’s disease or endolymphatic hydrops along with history and audiometric findings characteristic of the disease. Implications of the study promote the use of transtympanic ECoG rather than extratympanic ECoG in patients with symptoms suggestive of Meniere’s disease or endolymphatic hydrops.
文摘Primary infection with parvovirus B19 is an uncommon but serious and treatable cause of chronic anemia in immuno compromised hosts. Widely distributed, it is responsible for a wide range of clinical manifestations, the characteristics and outcome of which depend on the interaction between the viral properties and the physiological and immune status of the infected individuals.<span "=""> </span><span>Infection during pregnancy can result in fetal anemia, abortion, and hydrops. Pregnancy does not appear to affect the course of the infection, but the infection may affect the pregnancy. The diagnosis of B19V can be made by serological and molecular investigation of the mother, fetus and newborn.</span><span "=""> </span><span>In these conditions, it seemed necessary </span><span>for</span><span> us to answer in this article the various questions raised by the occurrence of a contagion and/or an infection with Parvovirus B19 during pregnancy.</span><span "=""> </span><span>Our objective was to determine at first the nature and the main characteristics of Parvovirus B19 as well as its propagation during the pregnancy and to show its risk for the pregnant woman and her fetus. The importance of the subject is proven by the data on the spread and incidence of the virus.</span><span "=""> </span><span>Worldwide, the focus on pregnancy is due to the additional potentially fatal effects on the fetus. This document covers the important aspects of a medical investigation: causes, symptoms, tests and diagnosis.
文摘Approximately 75%of lymphangiomas manifest in the head and neck region,with limb and bone involvement observed in only 2%of cases.This case report presents a rare instance of fetal lymphangioma associated with hydrops fetalis,affecting the left lower extremity and abdomen.A 22-year-old secundigravida woman was referred to the gynecology department at 31.2 weeks of gestation.Initial fetal ultrasound revealed a live fetus with a large lymphangioma involving the left lower extremity,gluteal region,and abdomen.Additional ultrasound findings included subcutaneous edema,pericardial effusion,ascites,placentomegaly,and tricuspid regurgitation.Postnatal clinical examination confirmed the diagnosis of lymphatic malformation.Notably,only one other similar case has been reported in the English-language PubMed database.This report adds to the medical literature as a rare instance of prenatally diagnosed lymphangioma-associated hydrops fetalis.
文摘Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and more.In a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune etiology.The mother,Rhesus negative,presented with a history of adverse obstetric events.At 21 weeks,the current fetus was diagnosed with hydrops.Maternal blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D,anti-C,and anti-E antibodies.Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL.Despite administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary masses.Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene.Furthermore,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before.This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops.We describe some of the diagnostic challenges faced in clinical management of this case.