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.

Bartter and Gitelman syndromes:Spectrum of clinical manifestations caused by different mutations

Bartter and Gitelman syndromes(BS and GS) are inherited disorders resulting in defects in renal tubularhandling of sodium,potassium and chloride.Previously considered as genotypic and phenotypic heterogeneous diseases,recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition.Although they share some characteristic metabolic abnormalities such as hypokalemia,metabolic alkalosis,hyperplasia of the juxtaglomerular apparatus with hyperreninemia,hyperaldosteronism,the clinical and laboratory manifestations may not always allow distinction between them.Diuretics tests,measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change(< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS,except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists.The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children.Clinical symptoms and biochemical markers of GS and classic form of BS(type III) may overlap and thus genetic analysis may specify the real cause of symptoms.However,although genetic analysis is available,its use remains limited because of limited availability,large gene dimensions,lack of hot-spot mutations,heavy workup time and costs involved.Furthermore,considerable overlap exists between the different genotypes and phenotypes.Although BS and GS usually have distinct presentations and are associated with specific gene mutations,there remains considerable overlap between their phenotypes and genotypes.Thus,they are better described as a spectrum of clinical manifestations caused by different gene mutations.

Liquorice-induced severe hypokalemic rhabdomyolysis with Gitelman syndrome and diabetes: A case report

BACKGROUND Licorice-induced severe hypokalemic rhabdomyolysis is clinically rare. Gitelman syndrome(GS) is the most common inherited renal tubular disease, while diabetes is one of the most prevalent diseases in the world. Recently, some studies have found that GS patients had higher diabetic morbidity. However, the coexistence of these three diseases has yet to be reported.CASE SUMMARY We report the case of a 62-year-old Chinese man who was admitted with weakness in the extremities, muscle pain, and dark-colored urine. He had consumed liquorice water daily for seven days prior to admission. The laboratory tests revealed a serum potassium level of 1.84 mmol/L, magnesium 0.68 mmol/L, creatinine phosphokinase(CK) 10117 IU/L, and marked hemoglobinuria. Fractional chloride excretion and fractional magnesium excretion were increased. Plasma renin activity and aldosterone concentration were within the normal ranges. Sequence analysis of the SLC12 A3 gene revealed that he had compound heterozygous mutations. The diagnosis of liquoriceinduced severe hypokalemic rhabdomyolysis with GS and diabetes was thus genetically confirmed. Serum potassium and CK quickly improved with potassium replacement therapy, hydration, and discontinuation of liquorice ingestion. Upon follow-up at 3 mo, the levels of CK, myoglobin, and potassium remained normal, and magnesium was above 0.6 mmol/L.CONCLUSION This case emphasizes that liquorice consumption and GS should be considered causes of hypokalemia and that the diabetic status of GS patients should be noted in the clinic.

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.

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

BACKGROUND To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. CASE SUMMARY The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease. CONCLUSION This is the first report of a new pathogenic mutation in SLC12A3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

Early diagnosis of Gitelman syndrome in a young child:A case report

BACKGROUND Gitelman syndrome(GS)is an autosomal recessive renal tubular disorder characterized by renal wasting hypokalemia,metabolic alkalosis,hypomagnesemia,and hypocalciuria.It is usually caused by mutations in the gene SLC12A3,which encodes the thiazide-sensitive Na-Cl cotransporter.GS is not usually diagnosed until late childhood or adulthood.CASE SUMMARY Here,we report the case of a one-year-old girl who was brought to the emergency department due to persistent vomiting for two days.On admission to our hospital,generalized weakness was observed,and laboratory investigations revealed severe hypokalemia(1.9 mmol/L).However,persistent hypokalemia was observed during outpatient follow-up.Suspicion of the GS phenotype was assessed via the patient’s clinical presentation,family history,and biochemical analysis of blood and urine.Further genetic analysis was performed for her and her family by exon-wide sequencing analysis of the gene SLC12A3.The genetic diagnosis of GS was established in the Taiwan region family with three affected individuals,two of whom were children(7 years/17 years)without obvious symptoms,with the youngest being only one year old(patient in our case).CONCLUSION We successfully demonstrated the early diagnosis of GS using family genetic analysis.Any instances of hypokalemia should not be neglected,as early detection of GS with suitable treatment can prevent patients from potentially lifethreatening complications.

Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene:A case report

BACKGROUND Gitelman syndrome(GS)is an unusual,autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis,hypomagnesemia and hypocalciuria.It is caused by mutations in the solute carrier family 12 member 3(SLC12A3)gene resulting in disordered function of the thiazidesensitive NaCl co-transporter.To date,many types of mutations in the SLC12A3 gene have been discovered that trigger different clinical manifestations.Therefore,gene sequencing should be considered before determining the course of treatment for GS patients.CASE SUMMARY A 55-year-old man was admitted to our department due to hand numbness and fatigue.Laboratory tests after admission showed hypokalemia,metabolic alkalosis and renal failure,all of which suggested a diagnosis of GS.Genome sequencing of DNA extracted from the patient’s peripheral blood showed a rare homozygous mutation in the SLC12A3 gene(NM_000339.2:chr16:56903671,Exon4,c.536T>A,p.Val179Asp).This study reports a rare homozygous mutation in SLC12A3 gene of a Chinese patient with GS.CONCLUSION Genetic studies may improve the diagnostic accuracy of Gitelman syndrome and improve genetic counseling for individuals and their families with these types of genetic disorders.

Gitelman syndrome:A case report

BACKGROUND Gitelman syndrome(GS)is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene.Due to its low incidence and lack of awareness,GS can be easily misdiagnosed or missed in diagnosis.CASE SUMMARY A 24-year-old male presented with>4 years of repeated limb weakness without any treatment.The previous day,the patient was bitten by ants and showed weakness of the lower limbs.The patient had hypokalemia(1.66-2.83 mmol/L),hypomagnesemia(0.4 mmol/L),hypocalciuria(1.51-2.46 mmol/d),metabolic alkalosis(7.47-7.54),normal blood pressure,and increased activity of aldosterone and plasma renin activity(PRA)(PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position,respectively).In addition,SLCI2A3 gene mutation with GS was diagnosed.Oral and intravenous supplementation with potassium and magnesium was initiated.Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L,alleviating the patient’s fatigue symptoms.CONCLUSION GS should be considered in patients with hypokalemia complicated with hypomagnesemia.Genetic testing is essential to confirm the diagnosis.

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism:A case report and literature review

BACKGROUND Gitelman syndrome(GS)is a rare inherited autosomal recessive tubulopathy,characterized clinically by hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis,and is caused by an inactivating mutation in SLC12A3.GS is prone to misdiagnosis when occurring simultaneously with hyperthyroidism.It is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia,which is difficult to correct.CASE SUMMARY A female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 mo.However,the patient’s serum potassium level remained low despite sufficient potassium replacement and remission of hyperthyroidism.GS was confirmed by whole exome and Sanger sequencing.Gene sequencing revealed compound heterozygous mutations of c.488C>T(p.Thr163Met),c.2612G>A(p.Arg871His),and c.1171_1178dupGCCACCAT(p.Ile393fs)in SLC12A3.Protein molecular modeling was performed to predict the effects of the identified missense mutations.All three mutations cause changes in protein structure and may result in abnormal protein function.All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed.CONCLUSION We have identified a novel compound heterozygous mutation in SLC12A3.The present study provides new genetic evidence for GS.

New SLC12A3 disease causative mutation of Gitelman's syndrome

Gitelman's syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazidesensitive Na Cl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyperreninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation(c.2581 C > T) and a new one(c.283 del C) in SLC12A3 gene. The new mutation results in a possible frame-shift with a premature stopcodon(pG ln95 Argfs X19). The parents of the patients, heterozygous carriers of the mutations found in SLC12A3, have no disease associated phenotype. Therefore, the new mutation is causative of GS.

ADVANCES OF EXPERIMENTAL RESEARCH ON ACUPUNCTURE AND MOXIBUSTION FOR TREATMENT OF WOMEN'S CLIMACTERIC SYNDROME

To introduce the advances of experimental research on acupuncture and moxibustion for treatment of Women＇s Climacteric Syndrome.The recent years experimental research literature of acupuncture and moxibustion for treatment of Women＇s Climacteric Syndrome were reviewed.The research literatures on acupuncture treatment were major,focusing on the field of acupuncture and moxibustion regulating hypothalamic-pituitary-gonad axis and nerval-endocritic-immune net.Acupuncture and moxibustion could regulate the endocrine environment of menopausal women.Taking advantage of combination biomedicine with multi-sciences,to improve the acupuncture and moxibustion curative effct and probe the mechanism of menopausal pathology and acupuncture and moxibustion function to Women＇s Climacteric Syndrome,is the research direction afterward.

正常人与Sj(?)gren’s Syndrome患者球结膜免疫细胞的研究

目的 研究正常人与干燥综合征(Sjogren’s Syndrome,SS)患者球结膜HLA-DR+细胞、朗格罕斯细胞(LC)、T淋巴细胞亚群的变化特征。方法 采用链菌素-过氧化物酶法检测正常人与SS患者球结膜组织。结果 (1)SS患者球结膜大量T淋巴细胞浸润,抑制性T淋巴细胞(CD^(+8))较辅助性T淋巴细胞(CD^(+4))为多。CD^(+4)/CD^(+8)比值升高。(2)SS球结膜中LC数量减少,且鳞状上皮化生明显。(3)SS球结膜中HLA-DR^+细胞较正常人明显增加。结论 SS患者球结膜有显著的病理改变和免疫细胞异常。

Gitelman综合征SLC12A3基因突变分析及分子机制研究

目的 回顾性分析2015年8月至2022年11月南京医科大学附属儿童医院收治的20例Gitelman综合征患儿临床症状及基因突变情况,初步探讨中国人群高频突变D486N致病分子机制。方法 收集患儿的临床资料及SLC12A3基因变异情况等,在人胚胎肾293T细胞(HEK293T)中分别过表达野生型和变异型SLC12A3基因,使用蛋白免疫印迹法和免疫荧光技术分别检测肾噻嗪敏感性钠-氯协同转运体(NCC)的表达水平和亚细胞定位,探讨SLC12A3基因高频突变D486N对NCC蛋白表达和定位的影响。结果 本研究期间共收集到20例Gitelman综合征患者,患儿均表现为低血钾症,共筛查到26种SLC12A3基因突变,错义变异13种、同义变异1种、无义变异1种、移码变异4种、剪接位点变异7种。其中4种突变p.T235K、c.1096-1G>A、p.A464A、c.2660+1_2660+2insT为新发突变。结论 本研究初步发现中国人群高频突变D486N影响NCC总蛋白和膜蛋白的表达,并影响NCC蛋白的膜表达。本研究的实验结果可为Gitelman综合征遗传咨询及诊治提供实验依据。