Jacob’s Syndrome and Deficiency of 11-Beta-Hydroxylase Enzyme Association Revealed by a Statural Advance: A Case Report

47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.

Portal vein thrombosis with protein C-S deficiency in a noncirrhotic patient

There are several conditions that can lead to portal vein thrombosis(PVT), including including infection, malignancies, and coagulation disorders. Anew condition of interest is protein C and S deficiencies, associated with hypercoagulation and recurrent venous thromboembolism. We report the case of a non-cirrhotic 63-year-old male diagnosed with acute superior mesenteric vein thrombosis and PVT and combined deficiencies in proteins C and S, recanalized by short-term low molecular heparin plus oral warfarin therapy.

A new iron free treatment with oral fish cartilage polysaccharide for iron deficiency chronic anemia in inflammatory bowel diseases:A pilot study

AIM： To investigate the effect of a new oral preparation, highly concentrated in fish cartilage, in a group of inflammatory bowel diseases （IBD） patients with chronic iron deficient anemia. METHODS： In an open label pilot study, we supplemented a group of 25 patients （11 with Crohn＇s disease and 14 with ulcerative colitis） in stable clinical conditions and chronic anemia with a food supplement which does not contain iron but contains a standardized fraction of fish cartilage glycosaminoglycans and a mixture of antioxidants （Captafer Medestea, Turin, Italy）. Patients received 500 mg, twice a day during meals, for at least 4 mo. Patients were suggested to maintain their alimentary habit. At time 0 and after 2 and 4 too, emocrome, sideremia and ferritin were examined. Paired data were analyzed with Student＇s t test. RESULTS： Three patients relapsed during the study （2 in the 3^rd too, 1 in the 4^th too）, two patients were lost to follow up and two patients dropped out （1 for orticaria, 1 for gastric burning）. Of the remaining 18 patients, levels of serum iron started to rapidly increase within the 2^nd mo of treatment, P 〈 0.05）, whereas serum ferritin and hemoglobin needed a longer period to significantly improve their serum levels （too 4） P 〈 0.05. The product was safe, easy to administer and well tolerated by patients. CONCLUSION： These data suggest a potential new treatment for IBD patients with iron deficiency chronic anemia and warrant further larger controlled studies.

PROS1基因新同义突变致以脑梗死起病的遗传性蛋白S缺陷症家系调查

目的调查一个以急性脑梗死起病的遗传性蛋白S缺陷症家系的临床特征,分析其PROS1基因的突变特点。方法收集先证者及其直系亲属的临床资料,采集血标本,检测蛋白S活性水平并对PROS1基因进行测序。结果该家系直系亲属三代8人,其中3名确诊为遗传性蛋白S缺陷症,先证者及其兄均表现为急性脑梗死,余家系成员尚未发生血栓事件。检测蛋白S活性:先证者、先证者之兄、先证者母亲分别为16.8%、38.0%、31.8%,父亲正常。基因分析发现先证者、先证者之兄、先证者母亲PROS1基因第11外显子均存在c.1323G>A杂合变异,父亲为野生型。结论本家系为一个新发现的由PROS1基因c.1323G>A同义突变引起的遗传性蛋白S缺陷症家系;此突变可能导致青年缺血性脑卒中的发生。

Prenatal radiographic evaluation of congenital transverse limb deficiencies:A scoping review

BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.

Predictors of vitamin D deficiency in inflammatory bowel disease and health: A Mississippi perspective

AIMTo identify the predictors of vitamin D deficiency in patients with and without inflammatory bowel disease (IBD).METHODSPatients with ulcerative colitis (UC) or Crohn’s disease (CD) related diagnostic codes who received medical care at University of Mississippi Medical Center between July 2012 and 2015 were identified. After thorough chart review, we identified patients with biopsy proven IBD who had also been tested for serum 25-hydroxyvitamin D [25(OH)D] concentration. We compared these patients to a previously studied cohort of healthy controls who also had vitamin D concentration checked. Logistic regression analysis was performed to determine the association between vitamin d deficiency and UC, CD, race, age, gender and body mass index (BMI).RESULTSWe identified 237 patients with confirmed IBD. Of these, only 211 had a serum 25(OH)D concentrations available in the medical record. The group of healthy controls consisted of 98 individuals with available serum 25(OH)D concentration. 43% of IBD patients were African American (AA). Patients with CD were more likely to have vitamin D concentration checked. Bivariate analysis showed that AA (51% vs 21%, P = 0.00001), subjects with BMI >30 kg/m2 (39% vs 23% P = 0.01) and CD (40% vs 26%, P = 0.04) were more likely to be vitamin D deficient than vitamin D sufficient. Those with Age > 65 were more likely to be vitamin D sufficient (46% vs 15%, P = 0.04). Multiple regression showed that only BMI > 30 kg/m2 and AA race are associated with vitamin D deficiency.CONCLUSIONBMI > 30 kg/m2 and AA race are predictive of vitamin D deficiency. Gender, age and diagnosis of IBD are not predictive of vitamin D deficiency.

Emerging causes of iron deficiency anemia refractory to oral iron supplementation

While oral iron supplementation is commonly used throughout many clinical setting,treatment with intravenous(IV) iron has historically been reserved for specific settings,such as chronic kidney disease,gynecologic issues,and anemia associated with cancer and its treatments.However,the use of IV iron has begun to gain popularity in the treatment of iron deficiency anemia(IDA) associated with two conditions that are being seen more frequently than in years past:patients who are status post gastric bypass procedure and those with inflammatory bowel disease(IBD).The Roux-en-Y procedure involves connecting a gastric pouch to the jejunum,creating a blind loop consisting of distal stomach,duodenum,and proximal jejunum that connects to the Roux limb to form a common tract.IDA occurs in 6%-50% of patients who have undergone a gastric bypass,the etiology being multifactorial.The proximal gastric pouch,the primary site of gastric acid secretion,is bypassed,resulting in a decreased ability to metabolize molecular iron.Once metabolized,most iron is absorbed in the duodenum,which is entirely bypassed.After undergoing bypass procedures,most patients significantly limit their intake of red meat,another factor contributing to post-bypass IDA.Chronic anemia occurs in approximately 1/3 of patients who suffer from IBD,and almost half of all IBD patients are iron deficient.IBD leads to IDA through multiple mechanisms,including chronic intestinal blood loss,decreased absorption capabilities of the duodenum secondary to inflammation,and an inability of many IBD patients to tolerate the side effects of oral ferrous sulfate.In this study,we reviewed the charts of all patients who received IV iron at Sylvester Comprehensive Cancer Center/University of Miami Hospital Clinic from January 2007 to May 2012.The most common indications for IV iron were for issues related to cancer and its treatment(21.9%),IBD(20.1%),and gastric bypass(15.0%).Of the 262 patients who received IV iron,230 received iron sucrose and 36 received iron dextran.While doses of 100,200,300,and 400 mg of iron sucrose were given,100 and 200 mg were by far the most common dosages used,122 and 120 times,respectively.The number of dosages of iron sucrose given ranged from 1 to 46,with a mean of 5.5 and a median of 4 doses.The average dose of iron dextran given was 870.5 mg,with 1000 mg being the most common dosage used.Most patients(22 of 36) who received iron dextran only received one dose.While patients with traditional indications for IV iron,such as gynecologic issues and kidney disease,still were represented in this study,we expect to see a continued increase in physicians using IV iron for emerging gastrointestinal indications,especially considering the increased safety of new low-molecular formulations.

Venous thromboembolic risk and protein S deficiency: ethnic difference and remaining issues

Protein S deficiency is an autosomal dominant disorder that results from mutations in the protein S gene (PROS1). Inherited deficiency of protein S constitutes a risk factor for venous thromboembolism. Protein S functions as a nonenzymatic cofactor for activated protein C in the proteolytic degradation of coagulation factors V a and Villa. The frequency of protein S deficiency seems to differ between populations. More than 200 rare mutations in PROS1 have been identified in patients with protein S deficiency. Among the prevalent mutations within PROS1, the S460P substitution (known as Heerlen polymorphism) detected in Caucasians and the K196E substitution (known as protein S Tokushima) found in Japanese have been intensively studied for their structures and potential functions in the disorder of protein S deficiency. Until now, causative mutations in PROS1 have been found in only approximately 50% of cases with protein S deficiency. Co-segregation analysis of microsatellite haplotypes with protein S deficiency in families with protein S deficiency suggests that the causative defects in the PROS1 mutation-negative patients are located in or close to the PROS 1 gene. Large PROS 1 gene deletions have been identified in 3 out of 9 PROS 1 mutation-negative Swedish VTE families with protein S deficiency and 1 out of 6 PROS1 mutation-negative Japanese patients with protein S deficiency. Intensive sequencing of the entire PROS 1 gene, including introns, may be needed to identify the cryptic mutations in those patients, and these efforts might uncover the pathogenesis of protein S deficiency.

Systemic lupus erythematosus combined with primary hyperfibrinolysis and protein C and protein S deficiency:A case report

BACKGROUND Systemic lupus erythematosus(SLE)is an autoimmune disease characterized by systemic involvement and multiple autoantibodies in the serum.Patients with protein C(PC)and protein S(PS)deficiency are prone to thrombosis.In contrast,patients with primary hyperfibrino-lysis tend to bleed.CASE SUMMARY A 52-year-old female patient with bilateral pleural effusion was diagnosed with"tuberculous pleurisy"and treated with anti-tuberculosis drugs and prednisone.The coagulation-related laboratory results showed decreased fibrinogen,PC activity,PS activity,and antithrombinШactivity.The immune-related laboratory results showed positive antinuclear antibody,anti-Smith antibody,anticardiolipin antibody(ACL),anti-β2-glycoprotein I antibody(aβ2GPI)and direct Coomb’s test and decreased complement 3 and complement 4.Thoracoscopy was performed and bloody pleural fluid was drained.Pathology of the pleural biopsy showed lymphocytes,plasma cells,and a few eosinophils in adipose and fibrous connective tissue.Results of whole exome sequencing of blood showed no genetic mutations suggesting the presence of hereditary hematological diseases.The patient was finally diagnosed with SLE and primary hyperfibrinolysis,and was treated with prednisolone,hydroxychloroquine,and compound cyclophosphamide.CONCLUSION PC and PS deficiency in SLE might be related to ACL and aβ2GPI.SLE and primary hyperfibrinolysis can coexist in one patient,with both a risk of thrombosis and a risk of bleeding.

Prevalence and factors associated with vitamin C deficiency in inflammatory bowel disease

BACKGROUND Patients with inflammatory bowel disease(IBD) are prone to several nutritional deficiencies. However, data are lacking on vitamin C deficiency in Crohn’s disease(CD) and ulcerative colitis(UC) patients, as well as the impact of clinical, biomarker and endoscopic disease severity on the development of vitamin C deficiency.AIM To determine proportions and factors associated with vitamin C deficiency in CD and UC patients.METHODS In this retrospective study, we obtained clinical, laboratory and endoscopic data from CD and UC patients presenting to the IBD clinic at a single tertiary care center from 2014 to 2019. All patients had an available plasma vitamin C level. Of 353 subjects who met initial search criteria using a cohort discovery tool, 301ultimately met criteria for inclusion in the study. The primary aim described vitamin C deficiency(≤ 11.4 μmol/L) rates in IBD. Secondary analyses compared proportions with deficiency between active and inactive IBD. Multivariate logistic regression analysis evaluated factors associated with deficiency.RESULTS Of 301 IBD patients, 21.6% had deficiency, including 24.4% of CD patients and 16.0% of UC patients. Patients with elevated C-reactive protein(CRP)(39.1% vs 16.9%, P < 0.001) and fecal calprotectin(50.0% vs 20.0%, P = 0.009) had significantly higher proportions of deficiency compared to those without. Penetrating disease(P = 0.03),obesity(P = 0.02) and current biologic use(P = 0.006) were also associated with deficiency on univariate analysis. On multivariate analysis, the objective inflammatory marker utilized for analysis(elevated CRP) was the only factor associated with deficiency(odds ratio = 3.1, 95%confidence interval: 1.5-6.6, P = 0.003). There was no difference in the presence of clinical symptoms of scurvy in those with vitamin C deficiency and those without.CONCLUSION Vitamin C deficiency was common in IBD. Patients with elevated inflammatory markers and penetrating disease had higher rates of vitamin C deficiency.

Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families

Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich’s ataxia (FA) but serum concentrations of vitamin E are low. Aim of study: To study clinical and genetic features of the Friedreich’s ataxia and AVED patients in 44 Moroccan families. Patients and Methods: Retrospective series of 72 Moroccan patients displaying Friedreich’s ataxia syndrome was recruited over a period of 22 years (1987-2009). All patients had a clinical and ophtalmological examinations, 30 patients underwent electromyography, and CT scan was performed in 29 patients. GAA repeats in the frataxin gene and the 744 del A mutation α-TTP gene were performed in all patients. Results: 17 patients (24% of cases) had the 744 del A mutation in the α-TTP gene responsible of ataxia with vitamin E deficiency (AVED) phenotype. 55 patients ?(76% of cases) had GAA expanded allele in the first intron of the frataxin gene. Phenotype-genotype correlation revealed a high frequency of head titubation, decreased visual acuity and slower disease progression in AVED than in Friedreich’s ataxia phenotype (p Our study represents a large series which highlight the clinical and genetic differences between AVED and Friedreich’s ataxia. AVED patients have a better prognosis after alpha-tocopherol treatment.

Iodine deficiency and women’s health: Colonialism’s malign effect on health in Oromia region, in Ethiopia

Objectives: Iodine is an essential nutrient needed for the synthesis of hormone thyroxin. Hormone thyroxin is involved in the metabolism of several nutrients, the regulation of enzymes and differentiation of cells, tissues and organs. Iodine deficiency (ID) impairs the development of the brain and nervous system. It affects cognitive capacity, educability, productivity and child mortality. ID hinders physical strength and causes reproductive failure. The objective of this paper is to explore if the health impacts of ID are more common and severe among women. Design: Using primary data (notes from a visit) and secondary data, this paper examines if the effects of ID are more common and severe among Oromo women inEthiopia. Findings: The health impacts of ID are more common and severe among women. Conclusions: ID is an easily preventable nutritional problem. In Oromia, the persistence of ID is explained by the Ethiopian government’s colonial social policies. Preventing ID should be seen as part of the efforts we make to enhance capacity building, promote health, gender equity and social justice. Implications: Iodine deficiency has a wide range of biological, social, economic and cultural impacts. Preventing ID can be instrumental in bringing about gender equity and building the capacity of people.

Feasibility of a New Granular Rapid Release Elemental S Fertilizer in Preventing S Deficiency of Canola on a S-Deficient Soil

Our previous research has indicated that granular elemental S (ES) fertilizers are not effective in the year of application and also are not consistently as effective as sulphate-S in increasing seed yield of canola in subsequent years, especially when applied at seeding in spring, because of slow dispersion of elemental S particles from granules for subsequent oxidation of ES to sulphate-S. A field experiment was established in autumn 2010 to determine the relative effectiveness of a new rapid release elemental S (RRES, now called Vitasul) fertilizer, in comparison to sulphate-S fertilizer, with various combinations of application times and placement methods (applied at 20 kg&middotS&middotha-1) on seed yield, straw yield, oil and protein concentration in seed, N and S uptake, partial factor productivity (PFP—kg&middotseed&middotkg-1 applied N&middotha-1—blanket application of 120 kg&middotN&middotha-1), S use efficiency (SUE—increase in kg&middotseed&middotkg-1 applied S&middotha-1) and percent recovery of applied S in seed + straw (%) of canola in 2011, 2012 and 2013 growing seasons on a S-deficient Gray Luvisol loam soil at Star City, Saskatchewan. The 11 treatments included two granular S sources (RRES and potassium sulphate) and five application time/placement method combinations (broadcast in autumn and incorporated in spring, broadcast in spring pre-tillage [broadcast and incorporated], broadcast in spring pre-emergence, sideband in spring and seedrow-placed in spring), plus a zero-S control. There was a significant response of seed yield of canola to applied S in all 3 years, but the responses varied with S source and with application time-placement combinations in different years. Seed yield increased considerably with all sulphate-S treatments compared to the zero-S control, although seed yield tended to be slightly lower in some spring and/or autumn broadcast treatments than the other sulphate-S treatments. Compared to the zero-S control, seed yield also increased significantly with all RRES treatments, but the increase was greater with autumn applied RRES than the spring applied RRES in many cases. Autumn applied RRES produced only slightly lower seed yield but spring applied RRES produced much lower seed yield than the highest yielding spring applied sulphate-S treatments. In 2011, straw yields increased significantly with applied S in some S treatments, but there was no significant effect of S fertilization on straw yield in 2012 and 2013. Oil concentration in canola seed increased only with sulphate-S fertilizer treatments in 2011, and it increased with both sulphate-S and ES sources in 2012 and 2013. There was no effect of any S treatment on the protein concentration in canola seed. The response trends of total N uptake and PFP were usually similar to seed yield for both S sources, but total S uptake, SUE and % recovery of applied S were lower with RRES than sulphate-S in many/most cases. In conclusion, the findings suggested the potential of spring broadcast pre-emergence RRES or autumn broadcast RRES in preventing S deficiency in hybrid canola, although seed yields were still slightly lower than the ideal highest yielding spring broadcast/incorporated sulphate-S treatment.

Altered O-GlcNAcylation and mitochondrial dysfunction,a molecular link between brain glucose dysregulation and sporadic Alzheimer's disease

Alzheimer’s disease is a neurodegenerative disease that affected over 6.5 million people in the United States in 2021,with this number expected to double in the next 40 years without any sort of treatment.Due to its heterogeneity and complexity,the etiology of Alzheimer’s disease,especially sporadic Alzheimer’s disease,remains largely unclear.Compelling evidence suggests that brain glucose hypometabolism,preceding Alzheimer’s disease hallmarks,is involved in the pathogenesis of Alzheimer’s disease.Herein,we discuss the potential causes of reduced glucose uptake and the mechanisms underlying glucose hypometabolism and Alzheimer’s disease pathology.Specifically,decreased O-Glc NAcylation levels by glucose deficiency alter mitochondrial functions and together contribute to Alzheimer’s disease pathogenesis.One major problem with Alzheimer’s disease research is that the disease progresses for several years before the onset of any symptoms,suggesting the critical need for appropriate models to study the molecular changes in the early phase of Alzheimer’s disease progression.Therefore,this review also discusses current available sporadic Alzheimer’s disease models induced by metabolic abnormalities and provides novel directions for establishing a human neuronal sporadic Alzheimer’s disease model that better represents human sporadic Alzheimer’s disease as a metabolic disease.

杧果Fe-S簇装配基因MiISU1的生物学功能

Fe-S簇装配机制相关基因在植物生长发育过程中起重要作用,克隆参与杧果线粒体Fe-S簇装配机制的ISU1,并分析其生物学功能,为研究热带果树Fe-S簇装配的分子机制提供基因资源和理论支撑。利用同源克隆法获得杧果MiISU1,通过实时荧光定量PCR分析该基因的组织特异性表达特征及其在转录水平对不同铁素处理的响应情况,创制MiISU1超表达转基因拟南芥株系并分析其潜在的生物学功能。结果表明,从二倍体杧果‘桂热82’中克隆获得MiISU1,在幼果中的表达水平最高,其次是在成熟果实、盛开期花朵和新生叶片中,而在新生根和新生韧皮部中的表达量较低;缺铁处理显著抑制了MiISU1在一年生杧果嫁接幼苗根中的表达量,而高铁毒害显著增强了MiISU1在整株幼苗不同组织中的表达量。此外,超表达MiISU1显著促进了转基因拟南芥的生长、铁素富集水平、叶片叶绿素含量、硝酸还原酶、乌头酸酶和琥珀酸脱氢酶的酶活力,通过增强转基因植株的根系发育进而提升对缺铁胁迫的耐受能力。MiISU1在杧果铁素营养和代谢中发挥作用,其活性受铁素供应水平的调控。

蛋白S缺乏症的PROS1基因突变并临床异质性表现一例

蛋白S活性降低是静脉血栓栓塞的高危因素之一。遗传性蛋白S缺乏症是由PROS1基因突变引起的常染色体显性遗传病。本文报道1例PROS1基因突变的女性患者,测序发现在PROS1基因第3外显子中c.292 G>T。谱系分析显示该突变可能源自于患者的母亲。经查询PROS1基因突变数据库及文献检索,证实这个突变为国际首次报道。

Ferric carboxymaltose for anemia in Crohn’s disease patients at a tertiary center:A retrospective observational cohort study

BACKGROUND Although the gastrointestinal tract is the most affected by Crohn’s disease(CD),the condition triggers other consequent manifestations,and iron deficiency anemia(IDA)is one of the most common.Intravenous(IV)iron replacement is currently available through several drugs,such as ferric hydroxide sucrose and ferric carboxymaltose(FCM).However,the clinical management of these conditions can be challenging.AIM To elucidate the drug’s effectiveness,the present study analyzed,through medical records,the clinical and epidemiological data of a cohort of patients with active CD who received IV FCM for the IDA treatment.METHODS This retrospective observational study included 25 patients with active CD,severe anemia,and refractory to previous conventional treatments.Patients were evaluated two times:During the last treatment with ferric hydroxide sucrose and treatment with FCM.RESULTS After treatment with FCM,parameters of IDA assessment significantly improved,serum hemoglobin(Hb)levels increased in 93%of patients(P<0.0001),and in 44%,there was an increase of≥2 g/dL in a single application.In addition,86%of the patients showed an increase in serum iron(P<0.0001)and ferritin(P=0.0008)and 50%in transferrin saturation(P=0.01).The serum iron levels at baseline showed a negative association with the ileal and colonic CD and use of biologics and a positive association with patients who developed CD later in life after the age of 40(A3)and with a stenosing(B2)and fistulizing(B3)phenotype.The values of Hb and hematocrit after ferric hydroxide sucrose treatment remained similar to those found before treatment.CONCLUSION This study demonstrated that FCM is an important therapeutic strategy for treating IDA in CD patients,achieving satisfactory results in refractory cases.

针灸联合济川煎加味治疗阳虚型帕金森病便秘疗效观察

目的探讨针灸联合济川煎加味治疗阳虚型帕金森病便秘的临床疗效。方法选取医院2023年1月至2024年1月收治的阳虚型帕金森病便秘患者80例,按随机数字表法分为治疗组和对照组,各40例。随访时对照组脱落2例,最终纳入38例。治疗组患者予针灸联合济川煎加味,对照组患者予西药乳果糖口服液,均治疗8周。结果治疗后,两组患者的慢性便秘症状严重程度评分量表(CSS)、生存质量量表(PAC-QOL)评分均显著低于治疗前(P<0.05),且治疗组均显著低于对照组(P<0.05)。结论针灸联合济川煎加味可改善阳虚型帕金森病便秘患者的便秘症状,提高其生存质量。

蛋白C、蛋白S缺乏症相关肺动脉血栓栓塞2例并文献复习

为提高对蛋白C(PC)/蛋白S(PS)缺乏症相关的肺动脉血栓栓塞症临床表现、诊治方法的认识,本研究分析了湘雅二医院收治的2例PC/PS缺乏相关肺动脉血栓栓塞患者的临床特点,并进行相关文献复习。两位男性患者年龄分别为29,26岁,临床症状主要表现为自发性反复双下肢肿痛,或胸闷气促、胸痛,或视力下将。血管彩超示下肢静脉血栓形成;肺部血管造影(CTA)示双下肺动脉栓塞;血清同型半胱氨酸浓度升高,血浆PC/PS总量明显降低,病例1为PC 57.4%,PS 28.9%;病例2为PS 33.4%。患者行常规抗凝治疗疗效差,予以维生素B6、维生素B12联合抗凝治疗后症状改善。中青年无明显诱因的反复发作性下肢深静脉血栓形成及肺血栓栓塞,应考虑先天性易栓症可能性,血浆PC,PS浓度及活性检测具有重要的诊断治疗意义。

上海正常人群中谷胱甘肽S-转移酶T1基因纯合缺损

人类谷胱甘肽Ｓ－转移酶是一类重要的Ⅱ相反应代谢酶，它不仅与环境有害物质的减毒代谢有关，有时也与活化代谢过程有关，在胞浆谷胱甘肽Ｓ－转移酶中ＧＳＴＴ１表现的遗传多态性主要是由相关编码基因的缺失造成的。本文通过由人β－珠蛋白基因片段作内标控制对人血有核细胞ＤＮＡ进行ＧＳＴＴ１等位基因专一（Ａｌｅｌｅ－ｓｐｅｃｉｆｉｃ）ＰＣＲ扩增的方法，对２２６名上海市健康常住居民进行ＧＳＴＴ１基因型检测，结果表明５０３％（１１４／２２６）的检测对象为ＧＳＴＴ１基因纯合子缺损（ＧＳＴＴ１０／０基因型），上述结果显著高于世界各地高加索人种集团的报道值（１１－１７％）以及美国黑人人群的相应数值（２４％）。