BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical pres...BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical presentation involving watery diarrhea and multiple ulcers in the duodenum.Here,we have presented the rare case of a patient with ZES and absence of hypergastrinemia as well as an atypical location of gastrinoma.CASE SUMMARY A 72-year-old woman presented with the typical clinical manifestations of ZES,including upper abdominal pain,significant watery diarrhea,and acidic liquid vomitus.Surprisingly,however,she did not have an increased level of serum gastrin.In addition,there was no evidence of gastrinoma or any other ulcerogenic tumor.Esophagogastroduodenoscopy was conducted to examine the upper digestive tract.Revised diagnoses were considered,and an individualized treatment plan was developed.The patient responded to antacid medication while experiencing intermittent,recurring bouts of ZES.18F-AlF-NOTAoctreotide positron emission tomography(18F-OC PET)/computed tomography(CT)helped locate the tumor.Postoperative pathology and immunohistochemistry results suggested that the tumor was a gastrinoma located at an unconventional site.CONCLUSION This present case study demonstrates the possibility of ZES-like manifestation in patients with absence of hypergastrinemia.18F-OC PET/CT is a relatively new imaging technique that can be applied for diagnosing even tiny gastrinomas that are atypical in terms of location.展开更多
Dear Editor,We present the reported case of a 37-year-old male atypical Cogan’s syndrome(CS)patient who was precisely diagnosed and clinically cured under our systematic therapeutic regime.CS is a rare autoimmune dis...Dear Editor,We present the reported case of a 37-year-old male atypical Cogan’s syndrome(CS)patient who was precisely diagnosed and clinically cured under our systematic therapeutic regime.CS is a rare autoimmune disorder involving the eye,characterised by interstitial keratitis(IK)and the auditory-vestibulo system with vestibular dysfunction.展开更多
BACKGROUND Myelodysplastic syndrome(MDS)is caused by malignant proliferation and ineffective hematopoiesis.Oncogenic somatic mutations and increased apoptosis,necroptosis and pyroptosis lead to the accumulation of ear...BACKGROUND Myelodysplastic syndrome(MDS)is caused by malignant proliferation and ineffective hematopoiesis.Oncogenic somatic mutations and increased apoptosis,necroptosis and pyroptosis lead to the accumulation of earlier hematopoietic progenitors and impaired productivity of mature blood cells.An increased percentage of myeloblasts and the presence of unfavorable somatic mutations are signs of leukemic hematopoiesis and indicators of entrance into an advanced stage.Bone marrow cellularity and myeloblasts usually increase with disease progression.However,aplastic crisis occasionally occurs in advanced MDS.CASE SUMMARY A 72-year-old male patient was definitively diagnosed with MDS with excess blasts-1(MDS-EB-1)based on an increase in the percentages of myeloblasts and cluster of differentiation(CD)34+hematopoietic progenitors and the identification of myeloid neoplasm-associated somatic mutations in bone marrow samples.The patient was treated with hypomethylation therapy and was able to maintain a steady disease state for 2 years.In the treatment process,the advanced MDS patient experienced an episode of progressive pancytopenia and bone marrow aplasia.During the aplastic crisis,the bone marrow was infiltrated with sparsely distributed atypical lymphocytes.Surprisingly,the leukemic cells disappeared.Immunological analysis revealed that the atypical lymphocytes expressed a high frequency of CD3,CD5,CD8,CD16,CD56 and CD57,suggesting the activation of autoimmune cytotoxic T-lymphocytes and natural killer(NK)/NKT cells that suppressed both normal and leukemic hematopoiesis.Elevated serum levels of inflammatory cytokines,including interleukin(IL)-6,interferon-gamma(IFN-γ)and tumor necrosis factor-alpha(TNF-α),confirmed the deranged type I immune responses.This morphological and immunological signature led to the diagnosis of severe aplastic anemia secondary to large granule lymphocyte leukemia.Disseminated tuberculosis was suspected upon radiological examinations in the search for an inflammatory niche.Antituberculosis treatment led to reversion of the aplastic crisis,disappearance of the atypical lymphocytes,increased marrow cellularity and 2 mo of hematological remission,providing strong evidence that disseminated tuberculosis was responsible for the development of the aplastic crisis,the regression of leukemic cells and the activation of CD56+atypical lymphocytes.Reinstitution of hypomethylation therapy in the following 19 mo allowed the patient to maintain a steady disease state.However,the patient transformed the disease phenotype into acute myeloid leukemia and eventually died of disease progression and an overwhelming infectious episode.CONCLUSION Disseminated tuberculosis can induce CD56+lymphocyte infiltration in the bone marrow and in turn suppress both normal and leukemic hematopoiesis,resulting in the development of aplastic crisis and leukemic cell regression.展开更多
Introduction: Acute Promyelocytic Leukemia (APL) is highly associated with hemostasis alterations. The atypical hemolytic uremic syndrome (aHUS) is a rare type of Thrombotic Microangiopathy (TMA) due to an overactivat...Introduction: Acute Promyelocytic Leukemia (APL) is highly associated with hemostasis alterations. The atypical hemolytic uremic syndrome (aHUS) is a rare type of Thrombotic Microangiopathy (TMA) due to an overactivation of the alternative complement pathway. Case Presentation: A 48-years-old woman was diagnosed with APL and achieved molecular remission after induction therapy. During the second consolidation cycle she presented with TMA. She began treatment with plasma exchange plus corticotherapy but due to aggravation of symptoms Eculizumab was initiated. Thrombotic thrombocytopenic purpura, infections and drug toxicity causes were ruled out. There was no evidence of relapse of the APL. Genetic studies of the hereditary anomalies of the alternative complement pathway were negative and the decision of stopping Eculizumab was made. During maintenance therapy for the APL she presented a severe relapse of the aHUS, requiring dialysis. She re-started treatment with Eculizumab with a progressive hematologic recovery and improvement of renal function. She completed APL treatment without relapse of the leukemia for the moment and continues to be treated with Eculizumab. Conclusion: This is the first published case of coexisting aHUS and APL successfully treated with Eculizumab.展开更多
BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlan...BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.展开更多
First described in 1907 by James Ramsay Hunt, Ramsay Hunt syndrome is a recurrence (reactivation) of varicella-zoster virus (VZV) affecting the geniculate ganglion, secondary to a decrease in cell-mediated immunity. T...First described in 1907 by James Ramsay Hunt, Ramsay Hunt syndrome is a recurrence (reactivation) of varicella-zoster virus (VZV) affecting the geniculate ganglion, secondary to a decrease in cell-mediated immunity. The strict definition of Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by erythematous vesicular rash on the ear. We report a 57-year-old female immunocompetent patient complaining of otalgia, small vesicles on the Ramsey Hunt Zone. She does not complain fever, hearing loss, nausea, vomiting or dizziness. There was no peripheral facial nerve palsy, no reduction of taste sensation, no ataxia or nystagmus, Romberg sign was negative. Our patient targets two of the three criteria needed for the diagnosis of Ramsay Hunt syndrome. She began to take Acyclovir-Steroid (AS) therapy very early with good outcome. This suggests that prompt diagnosis and management improve outcome and prevent occurrence of nerve palsy in Ramsay Hunt syndrome.展开更多
BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relatio...BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM.展开更多
With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct...With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct(CBD)and the pancreatic duct may fail to coalesce during embryologic development.This leads to double major papilla because both ducts open into the duodenum separately[1].In this way the cranial duct communicates with the CBD,while the caudal orifice communicates with the pancreatic duct[2].展开更多
BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effe...BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.展开更多
●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.展开更多
Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole ...Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management.展开更多
●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was...●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was conducted on 90 atypical NTG patients who underwent cranial magnetic resonance imaging(MRI)due to atypical symptoms.The demographic characteristics,clinical parameters,and radiological findings were recorded.●RESULTS:Among the patients,66.7%had abnormal radiology results,with the most common findings being gliosis(34.4%),sequelae of cerebrovascular events and vascular malformations(14.4%),and benign intracranial mass lesions(11%).Non-glaucomatous visual field defects were more frequently observed in patients with abnormal neuroimaging results.However,there were no significant differences in intraocular pressure,optic disc parameters,retinal nerve fiber layer thickness,and visual field indices between patients with normal and abnormal radiological results.The mean age of the patients was 58.74y.Interestingly,there was a significant age difference,with the abnormal radiology group having a higher median age(P=0.021).●CONCLUSION:The study highlights the importance of cranial imaging in older NTG patients to detect underlying pathologies and prevent misdiagnosis.It suggests that neuroimaging may be warranted in NTG patients with atypical visual field defects incompatible with glaucoma.However,routine neuroimaging in all NTG patients without classic neurological signs may not be necessary.展开更多
Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-cons...Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.展开更多
Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of...Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.展开更多
Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several...Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy.展开更多
Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and techn...Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and technicians with highly specialized training. Aims: To describe epidemiological, clinical and coronary angiography aspects of patients with acute coronary syndrome. Patients and Methods: Descriptive study from September 2019 to December 2023 in the Cardiology Department of the Hôpital Mère-Enfant of Bamako. Inclusion criteria were patients admitted for coronary angiography with the diagnosis of acute coronary syndrome. Results: During the study period, 1253 patients underwent coronary angiography, 596 of whom had acute coronary syndrome as an indication, representing a hospital frequency of 47%. Sex-ratio was 2.10. Mean age of patients was 58.5 ± 11.39 years. ST elevation acute coronary syndrome was the most common indication with 63.92% of cases. High blood pressure was the main cardiovascular risk factor with 58.7% of cases, and radial access approach was used in 98% of cases. Coronary angiography was pathological in 91.70% of cases (n = 548). Patients with lesions of anterior interventricular artery were 73.73% of cases. Tritruncal lesions accounted for 40.63% of cases. Conclusion: ST elevation acute coronary syndrome is the most frequent manifestation of acute coronary syndrome. Anterior interventricular artery is most often the culprit lesion for our patients.展开更多
BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS...BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.展开更多
Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a p...Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a prospective real-world study. Patients and Methods: A total of 250 pregnant women at pregnancy week 39 were non-selectively recruited. All were examined by PROM and neonatal pneumonia related clinical, bedside and lab tests, including body temperature, blood pressure, increased vagina discharge, posterior vault pooling, abdominal tenderness, WBC count, nitrazine test, amniotic fluid index, Leakection (a sICAM-1 based lateral flow immunoassay) and vagina streptococcus examinations. Increased vagina discharge with a Leakection positivity was adopted as a working criterium for identifying atypical PROM. Neonatal pneumonia was diagnosed based on the clinical presentation and lab tests. Results: Twenty cases of neonatal pneumonia (8.0%) were diagnosed after the deliveries of the 250 pregnant women. In these neonatal pneumonia cases, 12 (16.7%) occurred in 72 deliveries with atypical PROM, 2 (16.7%) in 12 deliveries with typical PROM, and 6 (3.6%) in 166 deliveries with non-PROM. Conclusion: In this real-world study, we find that a systematic screening at pregnancy week 39 was very meaningful in revealing atypical PROM. Moreover, atypical PROM is a major risk factor for neonatal pneumonia. Therefore, an early diagnosis and intervention on atypical PROM could potentially reduce the occurrence of neonatal pneumonia.展开更多
●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features ...●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS.However,as the number of reported cases increases,secondary MEWDS occurs in other related retinal diseases and injuries,exhibiting some special characteristics.The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy(MFC/PIC),acute zonal occult outer retinopathy,best vitelliform macular dystrophy,pseudoxanthoma elasticum,and ocular toxoplasmosis.The related retinal injury is laser photocoagulation,surgery,and trauma.Although primary MEWDS often have a self-limiting course,secondary MEWDS may require treatment in some cases,according to the severity of concomitant diseases and complications.Notably,MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation,needs positive treatment with corticosteroids.The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch’s membrane.The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances.Its prognosis and treatment depend on the severity of complications.Current studies propose that the etiology is associated with immune factors,including viral infection,inflammation in choroid and Bruch’s membrane,and antigen exposure caused by retinal and/or choroidal insults.More pathogenic studies should be conducted in the future.Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.展开更多
BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its...BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.展开更多
基金National Natural Science Foundation of China,No.82100612Zhejiang Medical Health Science and Technology Plan Project,No.2021KY1116。
文摘BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical presentation involving watery diarrhea and multiple ulcers in the duodenum.Here,we have presented the rare case of a patient with ZES and absence of hypergastrinemia as well as an atypical location of gastrinoma.CASE SUMMARY A 72-year-old woman presented with the typical clinical manifestations of ZES,including upper abdominal pain,significant watery diarrhea,and acidic liquid vomitus.Surprisingly,however,she did not have an increased level of serum gastrin.In addition,there was no evidence of gastrinoma or any other ulcerogenic tumor.Esophagogastroduodenoscopy was conducted to examine the upper digestive tract.Revised diagnoses were considered,and an individualized treatment plan was developed.The patient responded to antacid medication while experiencing intermittent,recurring bouts of ZES.18F-AlF-NOTAoctreotide positron emission tomography(18F-OC PET)/computed tomography(CT)helped locate the tumor.Postoperative pathology and immunohistochemistry results suggested that the tumor was a gastrinoma located at an unconventional site.CONCLUSION This present case study demonstrates the possibility of ZES-like manifestation in patients with absence of hypergastrinemia.18F-OC PET/CT is a relatively new imaging technique that can be applied for diagnosing even tiny gastrinomas that are atypical in terms of location.
文摘Dear Editor,We present the reported case of a 37-year-old male atypical Cogan’s syndrome(CS)patient who was precisely diagnosed and clinically cured under our systematic therapeutic regime.CS is a rare autoimmune disorder involving the eye,characterised by interstitial keratitis(IK)and the auditory-vestibulo system with vestibular dysfunction.
基金Supported by The Specialized Scientific Research Fund Projects of The Medical Group of Qingdao University,No.YLJT20201002.
文摘BACKGROUND Myelodysplastic syndrome(MDS)is caused by malignant proliferation and ineffective hematopoiesis.Oncogenic somatic mutations and increased apoptosis,necroptosis and pyroptosis lead to the accumulation of earlier hematopoietic progenitors and impaired productivity of mature blood cells.An increased percentage of myeloblasts and the presence of unfavorable somatic mutations are signs of leukemic hematopoiesis and indicators of entrance into an advanced stage.Bone marrow cellularity and myeloblasts usually increase with disease progression.However,aplastic crisis occasionally occurs in advanced MDS.CASE SUMMARY A 72-year-old male patient was definitively diagnosed with MDS with excess blasts-1(MDS-EB-1)based on an increase in the percentages of myeloblasts and cluster of differentiation(CD)34+hematopoietic progenitors and the identification of myeloid neoplasm-associated somatic mutations in bone marrow samples.The patient was treated with hypomethylation therapy and was able to maintain a steady disease state for 2 years.In the treatment process,the advanced MDS patient experienced an episode of progressive pancytopenia and bone marrow aplasia.During the aplastic crisis,the bone marrow was infiltrated with sparsely distributed atypical lymphocytes.Surprisingly,the leukemic cells disappeared.Immunological analysis revealed that the atypical lymphocytes expressed a high frequency of CD3,CD5,CD8,CD16,CD56 and CD57,suggesting the activation of autoimmune cytotoxic T-lymphocytes and natural killer(NK)/NKT cells that suppressed both normal and leukemic hematopoiesis.Elevated serum levels of inflammatory cytokines,including interleukin(IL)-6,interferon-gamma(IFN-γ)and tumor necrosis factor-alpha(TNF-α),confirmed the deranged type I immune responses.This morphological and immunological signature led to the diagnosis of severe aplastic anemia secondary to large granule lymphocyte leukemia.Disseminated tuberculosis was suspected upon radiological examinations in the search for an inflammatory niche.Antituberculosis treatment led to reversion of the aplastic crisis,disappearance of the atypical lymphocytes,increased marrow cellularity and 2 mo of hematological remission,providing strong evidence that disseminated tuberculosis was responsible for the development of the aplastic crisis,the regression of leukemic cells and the activation of CD56+atypical lymphocytes.Reinstitution of hypomethylation therapy in the following 19 mo allowed the patient to maintain a steady disease state.However,the patient transformed the disease phenotype into acute myeloid leukemia and eventually died of disease progression and an overwhelming infectious episode.CONCLUSION Disseminated tuberculosis can induce CD56+lymphocyte infiltration in the bone marrow and in turn suppress both normal and leukemic hematopoiesis,resulting in the development of aplastic crisis and leukemic cell regression.
文摘Introduction: Acute Promyelocytic Leukemia (APL) is highly associated with hemostasis alterations. The atypical hemolytic uremic syndrome (aHUS) is a rare type of Thrombotic Microangiopathy (TMA) due to an overactivation of the alternative complement pathway. Case Presentation: A 48-years-old woman was diagnosed with APL and achieved molecular remission after induction therapy. During the second consolidation cycle she presented with TMA. She began treatment with plasma exchange plus corticotherapy but due to aggravation of symptoms Eculizumab was initiated. Thrombotic thrombocytopenic purpura, infections and drug toxicity causes were ruled out. There was no evidence of relapse of the APL. Genetic studies of the hereditary anomalies of the alternative complement pathway were negative and the decision of stopping Eculizumab was made. During maintenance therapy for the APL she presented a severe relapse of the aHUS, requiring dialysis. She re-started treatment with Eculizumab with a progressive hematologic recovery and improvement of renal function. She completed APL treatment without relapse of the leukemia for the moment and continues to be treated with Eculizumab. Conclusion: This is the first published case of coexisting aHUS and APL successfully treated with Eculizumab.
文摘BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.
文摘First described in 1907 by James Ramsay Hunt, Ramsay Hunt syndrome is a recurrence (reactivation) of varicella-zoster virus (VZV) affecting the geniculate ganglion, secondary to a decrease in cell-mediated immunity. The strict definition of Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by erythematous vesicular rash on the ear. We report a 57-year-old female immunocompetent patient complaining of otalgia, small vesicles on the Ramsey Hunt Zone. She does not complain fever, hearing loss, nausea, vomiting or dizziness. There was no peripheral facial nerve palsy, no reduction of taste sensation, no ataxia or nystagmus, Romberg sign was negative. Our patient targets two of the three criteria needed for the diagnosis of Ramsay Hunt syndrome. She began to take Acyclovir-Steroid (AS) therapy very early with good outcome. This suggests that prompt diagnosis and management improve outcome and prevent occurrence of nerve palsy in Ramsay Hunt syndrome.
基金Supported by the“SDF-sweet doctor cultivation”Project of Sinocare Diabetes Foundation,No.2022SD11 and No.2021SD09.
文摘BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM.
文摘With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct(CBD)and the pancreatic duct may fail to coalesce during embryologic development.This leads to double major papilla because both ducts open into the duodenum separately[1].In this way the cranial duct communicates with the CBD,while the caudal orifice communicates with the pancreatic duct[2].
文摘BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.
文摘●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.
文摘Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management.
文摘●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was conducted on 90 atypical NTG patients who underwent cranial magnetic resonance imaging(MRI)due to atypical symptoms.The demographic characteristics,clinical parameters,and radiological findings were recorded.●RESULTS:Among the patients,66.7%had abnormal radiology results,with the most common findings being gliosis(34.4%),sequelae of cerebrovascular events and vascular malformations(14.4%),and benign intracranial mass lesions(11%).Non-glaucomatous visual field defects were more frequently observed in patients with abnormal neuroimaging results.However,there were no significant differences in intraocular pressure,optic disc parameters,retinal nerve fiber layer thickness,and visual field indices between patients with normal and abnormal radiological results.The mean age of the patients was 58.74y.Interestingly,there was a significant age difference,with the abnormal radiology group having a higher median age(P=0.021).●CONCLUSION:The study highlights the importance of cranial imaging in older NTG patients to detect underlying pathologies and prevent misdiagnosis.It suggests that neuroimaging may be warranted in NTG patients with atypical visual field defects incompatible with glaucoma.However,routine neuroimaging in all NTG patients without classic neurological signs may not be necessary.
文摘Fraser syndrome is a rare malformative genetic syndrome whose main manifestations are cryptophthalmia, syndactyly, laryngeal atresia and urogenital malformations. We report the observation of a newborn from a non-consanguineous marriage, admitted to the neonatology and neonatal intensive care unit at Day 1 of life for a poly-malformative syndrome. Clinically, the newborn presented with bilateral anophthalmia, cleft palate, dysmorphic facies with a rounded forehead, hypertelorism, micrognathia, low-set ears and a short neck, syndactility and bilateral cryptorchidism. Trans fontanellar ultrasound revealed tri ventricular hydrocephalus. Cerebral MRI angiography showed malformative tri-ventricular hydrocephalus, hypoplasia of the brainstem and cerebellum, and poly-microgyria. Transthoracic and renal ultrasonography were unremarkable, and the chest X-ray was normal. The authors discuss the malformative clinical and para-clinical aspects of this syndrome, multidisciplinary management and the importance of prenatal diagnosis.
文摘Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.
文摘Background: Adherence to medications is dependent upon a variety of factors, including individual characteristics of the patient, interactions with health care providers, and medication complexity. Even though several studies were conducted to test intervention strategies, results are uncertain. Aim: The aim of the study is to assess if a tailored combined intervention strategy improves medication adherence in a large population of post-menopausal women affected by hypertension or metabolic syndrome. Methods: We enrolled 6833 patients aged 50 to 69 years, 85.7% with hypertension, and 14.3% with metabolic syndrome. A network between patients, general practitioners, and cardiologists was established. Interventions included education, adequate information to patients, a simplified scheme of treatment, and periodic adherence assessment. These were either delivered as healthcare provider supports or using modern technology. Medication adherence was estimated by the proportion of days covered for all classes of drugs after the index date. Results: Non-adherent hypertensive women were 297 (5%), and those with metabolic syndrome were 73 (7.4%) (p Conclusions: The rate of non-adherence in both settings of postmenopausal women was 7.7%, much lower than that described in the literature. This rate was increased in patients with metabolic syndrome;probably it is related to the complexity of the therapeutic scheme or to a poor consciousness of the disease. Therefore, implementing a tailored combined intervention can improve significantly patients’ adherence to medical therapy.
文摘Introduction: Cardiac catheterisation plays a fundamental role in the management of acute coronary syndrome. These explorations require heavy, complex and costly equipment and a large team of doctors, nurses and technicians with highly specialized training. Aims: To describe epidemiological, clinical and coronary angiography aspects of patients with acute coronary syndrome. Patients and Methods: Descriptive study from September 2019 to December 2023 in the Cardiology Department of the Hôpital Mère-Enfant of Bamako. Inclusion criteria were patients admitted for coronary angiography with the diagnosis of acute coronary syndrome. Results: During the study period, 1253 patients underwent coronary angiography, 596 of whom had acute coronary syndrome as an indication, representing a hospital frequency of 47%. Sex-ratio was 2.10. Mean age of patients was 58.5 ± 11.39 years. ST elevation acute coronary syndrome was the most common indication with 63.92% of cases. High blood pressure was the main cardiovascular risk factor with 58.7% of cases, and radial access approach was used in 98% of cases. Coronary angiography was pathological in 91.70% of cases (n = 548). Patients with lesions of anterior interventricular artery were 73.73% of cases. Tritruncal lesions accounted for 40.63% of cases. Conclusion: ST elevation acute coronary syndrome is the most frequent manifestation of acute coronary syndrome. Anterior interventricular artery is most often the culprit lesion for our patients.
基金Supported by the Natural Science Foundation of Jiangxi Province,No.20202BAB206002 and No.20224BAB216084.
文摘BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.
文摘Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a prospective real-world study. Patients and Methods: A total of 250 pregnant women at pregnancy week 39 were non-selectively recruited. All were examined by PROM and neonatal pneumonia related clinical, bedside and lab tests, including body temperature, blood pressure, increased vagina discharge, posterior vault pooling, abdominal tenderness, WBC count, nitrazine test, amniotic fluid index, Leakection (a sICAM-1 based lateral flow immunoassay) and vagina streptococcus examinations. Increased vagina discharge with a Leakection positivity was adopted as a working criterium for identifying atypical PROM. Neonatal pneumonia was diagnosed based on the clinical presentation and lab tests. Results: Twenty cases of neonatal pneumonia (8.0%) were diagnosed after the deliveries of the 250 pregnant women. In these neonatal pneumonia cases, 12 (16.7%) occurred in 72 deliveries with atypical PROM, 2 (16.7%) in 12 deliveries with typical PROM, and 6 (3.6%) in 166 deliveries with non-PROM. Conclusion: In this real-world study, we find that a systematic screening at pregnancy week 39 was very meaningful in revealing atypical PROM. Moreover, atypical PROM is a major risk factor for neonatal pneumonia. Therefore, an early diagnosis and intervention on atypical PROM could potentially reduce the occurrence of neonatal pneumonia.
基金Supported by the National Natural Science Foundation of China(No.82171073No.82101147).
文摘●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS.However,as the number of reported cases increases,secondary MEWDS occurs in other related retinal diseases and injuries,exhibiting some special characteristics.The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy(MFC/PIC),acute zonal occult outer retinopathy,best vitelliform macular dystrophy,pseudoxanthoma elasticum,and ocular toxoplasmosis.The related retinal injury is laser photocoagulation,surgery,and trauma.Although primary MEWDS often have a self-limiting course,secondary MEWDS may require treatment in some cases,according to the severity of concomitant diseases and complications.Notably,MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation,needs positive treatment with corticosteroids.The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch’s membrane.The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances.Its prognosis and treatment depend on the severity of complications.Current studies propose that the etiology is associated with immune factors,including viral infection,inflammation in choroid and Bruch’s membrane,and antigen exposure caused by retinal and/or choroidal insults.More pathogenic studies should be conducted in the future.Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.
文摘BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.