Study on the extra X chromosome＇s effect on the hormone level of Klinefelter＇s syndrome

Klinefelter＇s syndrome is an inherited （genetic） disorder found only in men caused by at least one extra X chromosome in a cell. Does the extra X chromosome have any effect on the hormone level of Klinefelter＇s Syndrome？ In this paper, 25 subjects with Klinefelter＇s syndrome, 30 infertile subjects and 36 normal men without Klinefelter＇s syndrome were compared each other in endocrinology profile and cytogenetics. Subjects with Klinefelter＇s syndrome were identified by the karyotypes 47, XXY or 47, XXY/46XY, and positive of the X-chromatins （Barr bodies）. Hormone analysis of subjects with Klinefelter＇s syndrome showed that the testosterone （T） values were lower than those of the normal subjects, while the FSH and LH values were higher than those of the normal people; in the infertile experiment subjects without Klinefelter＇s Syndrome, the karyotypes are 46, XY, with negative of the X-chromatins. The testosterone （T） values of these subjects were also lower than those of the normal people, but the FSH and LH values were within the normal range. These results indicated that endocrinological test on infertile subjects can be used to determine whether a cytogenetic analysis is necessary, and hence exclude non- Klinefelter＇s syndrome. The mechanism of the occurrence of this difference, its clinical applications and the relationship among the karyotypes, the endocrinological test and the severity of the phenotype are discussed. Lyon＇s hypothesis stating that only one of the two X-chromosomes is genetically active in female cells, but our study concluded that the extra X chromosome do have effect on the hormone level of Klinefelter＇s Syndrome.

Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome:A case report

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.

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Aim： To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter＇s syndrome （KFS）. Methods： Blood and semen samples were collected from azoospermic patients with KFS （n = 14） and a control group of men of proven fertility （n = 13）. Semen analysis was done according to World Health Organization （WHO） guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization （FISH） and measurement of plasma follicle stimulating hormone （FSH） by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction （PCR） of 16 sequence tagged sites （STS） and three genes （DFFRY, XKRY and RBM1 Y） was performed on isolated genomic DNA. Testicular fine needle aspiration cytology （FNAC） was done in selected cases. Results： Y chromosome microdeletions spanning the azoospermia factor （AZF）a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels. Conclusion： Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques. （Asian JAndrol 2006 Jan; 8： 81-88）

A case of Klinefelter＇s syndrome with type 1 diabetes mellitus

Klinefelter＇s syndrome （KS） is the most common sex chromosome disease in men. Classical features of the syndrome include a eunuchoidal body habitus, small testes and hypergonadotrophic hypogonadism. There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients. This paper reports a case of KS in association with type 1 diabetes mellitus. The patient was a 21-year-old man, who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody. The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range, and his blood glucose was controlled well by the insulin therapy.

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome

Aim： To evaluate the occurrence of classical azoospermia factor （AZF） deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome （KS）. Methods： Blood samples were collected from 95 azoospermic subjects with KS （91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46, XY karyotype） and a control group of 93 fertile men. The values of testosterone, follicle stimulating hormone （FSH） and luteinizing hormone （LH） were measured. To determine the presence of Y chromosome microdeletions, polymerase chain reaction （PCR） of five sequence-tagged site primers （sY84, sY 129, sY 134, sY254, sY255） spanning the AZF region, was performed on isolated genomic DNA. Results： Y chromosome microdeletions were not found in any of the 95 azoosperrnic subjects with KS. In addition, using similar conditions of PCR, no microdeletions were observed in the 93 fertile men evaluated. The level of FSH in KS subjects was higher than that in fertile men （38.2 ± 10.3 mIU/mL vs. 5.4 ±2.9 mIU/mL, P 〈 0.001） and the testosterone level was lower than that in the control group （1.7 ±0.3 ng/mL vs. 4.3 ± 1.3 ng/mL, P 〈 0.001）. Conclusion： Our data and review of the published literature suggest that classical AZF deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KS subjects with a 47,XXY karyotype. In addition, routine screening for the classical AZF deletions might not be required for these subjects. Further studies including partial AZFc deletions （e.g. gr/gr or b2/b3） are necessary to establish other mechanism underlying severe spermatogenesis impairment in KS.

The role of hypogonadism in Klinefelter Syndrome

Klinefelter syndrome （KS） （47, XXY） is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be difficult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These findings should be a concern as they are not simply laboratory findings; epidemiological studies in KS populations show an increased risk of beth hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome.

Novel methylation specific real-time PCR test for the diagnosis of Klinefelter syndrome

The aim of this study was to design a molecular assay for the diagnosis of Klinefelter syndrome （KS）, based on the detection of supernumerary X-chromosomes （X-chs）. DNA was extracted from peripheral blood samples of twenty-six 47,XXY males; two 46,XY/47,XXY males; twenty-two 46,XY males; and 15 females; and deaminated. Methylation-specific quantitative polymerase chain reaction （MS-qPCR） was performed using primers for unmethylated and methylated copies of the X-ch inactive-specific transcript （XIST-U and XIST-M） gene. X-ch disomy was determined on the basis of XIST methylation status. Degree of mosaicism in the 46,XY/47,XXY males was compared with karyotype and fluorescent in situ hybridization （FISH） results. Data analysis was performed using the Roche LightCycler software V. 3.5.3, including determination of crossing points （CPs） by fit-point analysis and melting curve analysis. Xoch disomy was detected in all female controls and KS patients; male controls expressed XIST-M only. CPs ranged from 29.5 to 32.5 （standard deviation （s.d.） 0.8） for XIST-U and from 29 to 31 （s.d. 0.6） for XIST-M. Limit of detection of mosaicism was 1%. Based on XlST-U/XIST-M ratios for the two 47,XXY/46,XY patients, the calculated degree of mosaicism （1.8% and 17.8%） was comparable to FISH results （2.3% and 15%, respectively）. Turnaround time from DNA deamination to final data analysis was under 9 h. We conclude that MS-qPCR is a sensitive, specific and rapid test for the detection of X-ch disomy, with applicability for the screening and diagnosis of KS, even in the setting of low grade 47,XXY/46,XY mosaicism.

Immunoadsorption therapy for Klinefelter syndrome with antiphospholipid syndrome in a patient:A case report

BACKGROUND Klinefelter syndrome(KS) is a genetic disease of male sex chromosome malformations that affects sperm production and reduces testosterone production. It has been reported that there is currently more than 10 cases of KS combined with antiphospholipid syndrome(APS).CASE SUMMARY Here, we describe a 31-year-old male patient with chromosome 47, XXY type, who suffered deep vein thrombosis of the lower limbs accompanied by abnormal antiphospholipid antibody, lupus anticoagulant and factor VⅢ. After treatment with immunoadsorption therapy, glucocorticoids, cyclophosphamide, intravenous immunoglobulin and anticoagulant therapy, the patient showed dramatic symptomatic improvement. During the follow-up, the patient did not develop any new thrombotic events.CONCLUSION Immunoadsorption combined with glucocorticoid and cyclophosphamide shock comprehensive treatment has achieved significant results for patients with KS combined with antiphospholipid syndrome.

Birth after intracytoplasmic sperm injection of ejaculated spermatozoa from a man with mosaic Klinefelter's syndrome

Aim:To report a birth after intracytoplasmic sperm injection (ICSI) of ejaculated spermatozoa from a man with mosaic Klinefelter's syndrome detected by fluorescence in situ hybridization (FISH) analysis.Methods:A 35-year- old man with a normal appearance consulted our hospital because of sterility over a 5-year period.Chromosome analysis showed low-incidence mosaic Klinefelter's syndrome.Using FISH,96 % hyperploidy of the lymphocytes was found.We examined the sex chromosome of the ejaculated spermatozoa.Using FISH,we examined 200 ejacu- lated spermatozoa and no hyperploidy was found.Results:The 33-year-old female partner of the male patient underwent an uncomplicated controlled ovarian hyperstimulation sequence using a combined recombinant-follicle stimulating hormone (rec-FSH) + human menopausal gonadotrophin (hMG) protocol,following late luteal phase pituitary down regulation.This culminated in the retrieval of seven oocytes,six of which were fertilized with ICSI. One ICSI attempt led to clinical pregnancy with a healthy baby girl.Conclusion:We report a male patient with low- incidence mosaic Klinefelter's syndrome whose ejaculated spermatozoa were identified as being haploid by FISH before ICSI,leading to the successful pregnancy of his wife and the birth of a healthy baby girl.

Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature

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.

Nasogastric tube syndrome:A Meta-summary of case reports

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.

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger’s syndrome with successful hearing rehabilitation by cochlear implantation

Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.

Ziwan-Taoren herb pair can exert an therapeutical effect in primary Sjogren’s syndrome through inhibiting the TLR/NF-κB pathway

Background:Ziwan and Taoren(ZT)is a classic medicine pair in the formula of Mai Dong Di Shao Decoction,has been used to treat primary Sjogren’s syndrome(pSS)for more than 20 years.But its action mechanism is still unknown.This study is aimed to reveal the potential mechanism of ZT treated pSS and discover its active compounds of ZT and therapeutic target for pSS.Methods:Firstly,the potential pathways of ZT for pSS treatment were predicted through network pharmacology and GO and KEGG enrichment analysis.Secondly,the inter-structural relationships between active compounds of ZT and target proteins were visualized using molecular docking techniques.Finally,efficacy and mechanism were conducted through in vivo experiments,such as water intake,spleen index,hematoxylin-eosin staining pathological changes,ELISA,Western Blot analysis,and immunofluorescence staining.Results:Nine active compounds were extracted from network pharmacology,including quercitrin,luteolin,kaempferol,β-sitosterol,isorhamnetin,galangin,hederagenin,diosmetin and gibberellin 7.Seven disease targets were identified:RELA,TP53,AKT1,interleukin(IL)6,MAPK1,ESR1,IL10;with RELA being the most core target.KEGG and GO enrichment analysis indicated that ZT may act through the TLR/NF-κB/RELA inflammatory mechanism process.preliminary results of molecular docking showed that ZT’s active compounds bind well to the RELA(p65)receptor.In vivo results demonstrated that a high dose of ZT significantly improved water intake and reduced lymphocytes infiltration in submandibular gland pathology in NOD mice.The expression content of AQP5 and vasoactive intestinal peptide in the submaxillary gland was significantly increased,while levels of inflammatory factors such as tumor necrosis factor-α,IL-6,and IL-1βalong with protein expressions including toll-like receptor4,p-p65 and p-IKKα/βin NF-κB pathway were reduced.Conclusions:The ZT treatment exhibits a promising efficacy in mitigating dryness symptoms of pSS,potentially attributed to its capacity for suppressing the TLR/NF-κB inflammatory signaling pathway.

Successful splenic artery embolization in a patient with Behçet’s syndrome-associated splenic rupture:A case report

BACKGROUND Splenic rupture associated with Behçet’s syndrome(BS)is extremely rare,and there is no consensus on its management.In this case report,a patient with BSassociated splenic rupture was successfully treated with splenic artery embolization(SAE)and had a good prognosis after the intervention.CASE SUMMARY The patient was admitted for pain in the left upper abdominal quadrant.He was diagnosed with splenic rupture.Multiple oral and genital aphthous ulcers were observed,and acne scars were found on his back.He had a 2-year history of BS diagnosis,with symptoms of oral and genital ulcers.At that time,he was treated with oral corticosteroids for 1 month,but the symptoms did not alleviate.He underwent SAE to treat the rupture.On the first day after SAE,the patient reported a complete resolution of abdominal pain and was discharged 5 d later.Three months after the intervention,a computed tomography examination showed that the splenic hematoma had formed a stable cystic effusion,suggesting a good prognosis.CONCLUSION SAE might be a good choice for BS-associated splenic rupture based on good surgical practice and material selection.

What Are the Current and Developing Treatments for Cotard’s Syndrome, Alice in Wonderland Syndrome, and Catatonic Schizophrenia?

Purpose: Cotard’s syndrome, Alice in Wonderland Syndrome, and Catatonia are all rare psychiatric disorders that have relatively little research regarding their treatments. The aim of this article is to highlight any gaps in knowledge regarding represented demographics in these treatment studies, and to discuss the current and upcoming treatment options. Background: This literature review explores under-researched psychiatric conditions: Cotard’s syndrome, Alice in Wonderland syndrome, and Catatonic Schizophrenia. Understanding psychiatric disorders requires basic knowledge of brain anatomy. These conditions are often result of or associated with neurological issues, such as migraines or tumors. The brain has eight lobes, two of four kinds: frontal, parietal, occipital, and temporal lobes, which all govern different functions and abilities. Frontal lobes control judgment, decision-making, personality traits, and fine motor movements. Parietal lobes interpret pain and temperature, occipital lobes handle visual stimuli, and temporal lobes enable hearing. The pre-frontal cortex is associated with high intelligence, psychotic traits, and psychosis. The Broca’s Area in the frontal lobes controls expressive language. These areas and divisions of the brain contribute to the complexity of the psychiatric disorders discussed in this review. Introduction: Cotard’s syndrome is a psychiatric disorder characterized by delusions of being dead or not having certain limbs or organs. It is believed that there is a disconnect between their fusiform face area and the amygdala, causing a lack of familiarity between one’s mind and body. Alice in Wonderland Syndrome (AIWS) is another psychiatric disorder which is characterized by visual hallucinations, such as distorted perceptions of color, size, distance, and speed. The most common symptoms include micropsia and macropsia. Catatonia/Catatonic Schizophrenia is an uncommon type of schizophrenia. This type of schizophrenia is characterized by motor rigidity, verbal rigidity, the flat effect, psychomotor retardation, waxy flexibility, and overall negative symptoms. Thus, these people may come off as emotionally detached, and able to stay frozen in odd positions for periods on end. Treatments and Results: Cotard’s syndrome seemed to be most effectively treated by ECT (electroconvulsive therapy). Alice in Wonderland Syndrome (AIWS) had the highest positive responses to treatment by Valproate (an anti-epileptic drug), as well as intervention to treat the associated neurological conditions they had. Catatonia/Catatonic Schizophrenia seemed to be most effectively treated with a combination of benzodiazepines and ECT. Discussion and Demographics: In all 3 disorders, the Latino and African communities were underrepresented. There also seemed to be an underrepresentation of men in Cotard’s syndrome, and of women in Alice in Wonderland Syndrome. Japan and India seemed to have the highest density of treatment studies in all 3 disorders.

A Typical Case of Classic Potter’s Syndrome: A Case Report

Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.

Primary Raynaud’s Syndrome: An Intrinsic Autoimmune Disease that Is Amenable to Mycophenolate Mofetil

Raynaud’s syndrome (RS) is a vasospastic disorder with potential hereditary predisposition and multiple triggering factors. After the exclusion of external stimuli and local disorders, autoimmunity presents a potential intrinsic trigger even in idiopathic RS. We present a 47-year-old woman with severe and progressive RS in both hands and toes for 2 years. She did not have: a) clinical and laboratory evidence of systemic autoimmune diseases;b) prior drug exposure;c) local digits disease. She could not tolerate vasodilators. Since she had elevated C-reactive protein, she received MMF as immunosuppressive therapy. Within 2 weeks, her symptoms improved, and she remained disease-free for 2 years. In conclusion, blocking intrinsic autoimmune triggers with MMF is a safe, practical, and effective short- and long-term treatment for refractory primary RS.

Renal Vein Thrombosis Suggestive of Extramembranous Glomerulonephritis Associated with Sjögren’s Syndrome (Case Report)

Introduction: Glomerular damage during Gougerot-Sjgren syndrome is much rarer than interstitial damage, and is essentially extra-membranous and membrano-proliferative glomerulonephritis. Observation: We report the case of a 44-year-old woman with primary Sjgrens syndrome, confirmed by clinical dryness syndrome, positive anti-SSA and anti-SSB antibodies, and a salivary gland biopsy revealing grade 4 lymphocytic sialadenitis according to CHISHOLMs classification. Later, the patient developed nephrotic syndrome, along with hypertension. Renal function remained normal with a creatinine level of 9.3 mg/l, and hematuria was absent. Only antinuclear antibodies tested positive, while anti-PLA2R antibodies were negative. A renal biopsy was performed, which was complicated on the same day by hemodynamic instability with hematuria. Renal CT scan with contrast injection revealed a posterior perirenal hematoma without contrast extravasation. Additionally, bilateral renal vein thrombosis was incidentally discovered, suggesting extramembranous glomerulonephritis. The patients hemodynamic status stabilized after fluid resuscitation with isotonic saline solution (0.9%), without the need for blood transfusion. Renal biopsy confirmed extramembranous glomerulonephritis with interstitial fibrosis and minimal tubular atrophy. The initial etiological assessment was negative. The patient was started on oral corticosteroids, angiotensin-converting enzyme inhibitors, and therapeutic anticoagulation for renal vein thrombosis. The patients condition improved, with the disappearance of the syndrome and spontaneous regression of the hematoma. Discussion: The association of nephrotic syndrome and renal vein thrombosis primarily suggests glomerulopathy, in particular extra-membranous glomerulonephritis. Sjgrens syndrome can be associated with extra-membranous glomerulonephritis without being its direct cause. Like, it is possible that it is a cause of glomerulonephritis, essentially extra membranous and membrano-proliferative. Conclusion: Sjgrens syndrome is generally underestimated cause of glomerulonephritis, which should be considered in cases of extra-membranous glomerulonephritis.

Navigating Long-Term Management Challenges in Short Bowel Syndrome: A Case Report of Chronic Intestinal Failure Complicated by Kidney Dysfunction

The most common cause of intestinal failure is short bowel syndrome (SBS), occurring as a result of a small functional intestine length, usually less than 200 cm, leading to intestinal malabsorption. A 59-year-old female with a past medical history of Crohns disease status post total colectomy with ileostomy over 20 years ago came to the hospital due to progressive weakness. Despite medical management, the patient had high ileostomy output, leading to electrolyte disbalance, metabolic acidosis, dehydration, and progressive kidney decline. Due to the high dependence on continuous fluid supplementation, it was decided to place a port for parenteral hydration to maintain fluid replacements and homeostasis after discharge. Prompt initiation of parenteral fluid replacement and close follow-up on patients with ileostomy and intestinal failure is strongly recommended to avoid complications and prevent intestinal, liver, or kidney transplants.