A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

两种不同的方法治疗急性脑梗死的疗效观察

目的探讨两种不同的方法治疗急性脑梗死的临床效果。方法将2008年1月-2009年1月间在我院住院治疗的急性脑梗死患者60例随机分为观察组和对照组,对照组给予肠溶阿司匹林及奥扎格雷钠治疗,观察组给予低分子肝素钙联合血栓通注射液治疗。结果治疗后观察组患者在PTC、APTT、INR及FIB改善方面明显优于对照组,两组比较差异具有统计学意义（P〈0．05）。观察组总有效率为97．67％,对照组为76．67％,两组比较差异具有统计学意义（P〈0．05）。观察组在治疗半月、一个月后NDS评分明显优于对照组．两组比较差异具有统计学意义（P〈0．05）。两组患者均未见明显的药物不良反应。结论低分子肝素钙联合血栓通注射液治疗急性脑梗死的临床效果更好,值得应用。     

低分子肝素钙联合奥扎格雷钠治疗肺心病急性发作的疗效观察

目的探讨低分子肝素钙联合奥扎格雷钠治疗肺心病急性发作的临床效果。方法将2008年1月～2009年1月间在我院住院治疗的肺心病急性发作患者102例随机分为A组、B组和C组．A组给予低分子肝素钙,B组给予奥扎格雷钠,C组联合应用低分子肝素钙和奥扎格雷钠,评估三组治疗效果。结果治疗后三组患者PO2、PCO2均较治疗前好转,三组分别比较差异具有统计学意义（P〈0．05）。A组、B组PO2明显低于C组,两组分别比较差异具有统计学意义（P〈0．05）;A组PO：与B组比较差异无统计学意义（P〉0．05）。A组、B组PCO2明显高于C组,两组分别比较差异具有统计学意义（P〈0．05）;A组PCO2与B组比较差异无统计学意义（P〉0．05）。A组总有效率为76．47％,B组为73．53％,C组为97．06％;A组、B组总有效率明显低于C组,两组分别比较差异具有统计学意义（P〈0．05）;A组总有效率与B组比较差异无统计学意义（P〉0．05）。结论低分子肝素钙联合奥扎格雷钠治疗肺心病急性发作疗效优于两者单纯用药,值得推荐应用。     

低分子肝素钙氯吡格雷治疗不稳定型心绞痛的疗效研究

目的：探讨低分子肝素钙（LMWH）、氯吡格雷治疗不稳定型心绞痛（UA）的临床效果。方法：将138例UA患者随机分为低分子肝素钙组、氯吡格雷组和对照组,三组均给予常规治疗,低分子肝素钙组同时给予LMWH皮下注射,氯吡格雷组同时给予氯吡格雷片口服。结果：三组患者用药后心绞痛改善情况：低分子肝素钙组疗效明显优于氯吡格雷组和对照组,两者分别比较差异具有统计学意义（P〈0.05）。用药后心电图改善情况低分子肝素钙组疗效明显优于氯吡格雷组和对照组,两者分别比较差异具有统计学意义（P〈0.05）。用药后低分子肝素钙组在TT、PT、APTT、Fbg改善方面明显优于氯吡格雷组和对照组,两者分别比较差异具有统计学意义（P〈0.05）。结论：低分子肝素钙治疗不稳定型心绞痛疗效确切,副作用少,值得临床广泛应用。     

手法小切口白内障手术治疗糖尿病性白内障的疗效

目的 分析手法小切口白内障摘除及人工晶体植入手术治疗糖尿病白内障的疗效.方法 根据术前空腹血糖情况将150例(150眼)糖尿病性白内障患者分为4组:血糖控制理想组、血糖控制较好组、血精控制一般组、空腹血糖＞8.34mmol/L组.采用手法小切口白内障摘除及人工晶体植入手术治疗.结果 各组术后最佳矫正视力≥0.5的有效率分别为83.13%(69/83例)、70.96%(22/31例)、70.58%(12/17例)、73.18%(14/19例),经统计学比较,无显著性统计学差异(P＞0.05).结论 糖尿病白内障采用手法小切口白内障摘除联合人工晶状体植入术,手术操作安全,术中并发症少,视力恢复快,值得在基层眼科推广应用.     

Biology of stem cells in human umbilical cord stroma: in situ and in vitro surveys

Cells in the umbilical cord stroma have gained attention in recent years; however, differentiation to certain lineages in humans has been demonstrated in few studies. Unlike bone marrow MSCs, human umbilical cord stroma cells (HUCSCs) are far from being well characterized. This study attempts to describe proliferation, structural, and differentiation properties of these cells to account for their exceptional nature in many aspects. Cellular dynamics, cellular structure, and the degree of transformations during expansion and differentiation into mesenchymal and neuronal lineages were examined in vitro over a 10-month period. Comparisons with human bone marrow MSCs regarding differentiation were performed. HUCSCs in culture revealed two distinct cell populations, type 1 and type 2 cells, that possessed differential vimentin and cytokeratin filaments. Corresponding cells were encountered in cord sections displaying region-specific localization. alpha-Smooth muscle actin and desmin filaments, which were evident in cord sections, diminished through passages. No difference was noted regarding type 1 and type 2 cells in differentiation to chondrogenic, adipogenic, and osteogenic lineages, whereas a preferential differentiation was noted in neuronal lineage. Relative success was achieved by production of chondrocytic spheres and osteogenic monolayers, whereas adipocytes were immature compared with bone marrow MSCs. The presence of neuronal markers suggests that they transform into a certain state of maturity under neurogenic induction. Conclusively, HUCSCs retain their original phenotype in culture without spontaneous differentiation, have a limited lifespan, and bear multipotent stem cell characteristics. Given these characteristics, they may be generally considered progenitor cells if manipulated under appropriate conditions and deserve further study to be potentially used in cell-based therapies.     

Bone Fracture Healing with Umbilico-Placental Mononuclear Cells: A Controlled Animal Study

Background:   

Fracture healing is a significant process in orthopedics. In this controlled animal study, our aimis to expose the healing effects of cord blood umbilico-placental mononuclear cells (UPMNCs) on bone fractures.     

不同内镜术式治疗慢性鼻窦炎的临床效果观察

目的观察不同内镜术式治疗慢性鼻窦炎(CRS)的临床效果。方法选择我院2016年1月至2019年12月收治的80例CRS患者,依据不同的手术方式分为对照组与观察组各40例。对照组采用Messerklinger术式,观察组采用经前囟钩突切除术。比较两组患者的临床疗效、黏膜纤毛传输时间(MTT)和SF-36评分。结果观察组治疗总有效率为92.50%,明显高于对照组的75.00%(P <0.05)。治疗前,两组的MTT、 SF-36评分比较差异无统计学意义(P>0.05);治疗后,两组的MTT明显短于治疗前,SF-36评分明显高于治疗前,且观察组的MTT明显短于对照组,SF-36评分明显高于对照组(P <0.05)。结论经前囟钩突切除术治疗CRS患者可有效提高临床疗效,缩短MTT,并提高其生活质量。     

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche

We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimulation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17alpha-hydroxyprogesterone (17-OHP) level on the ACTH test was > or =10 ng/mL underwent a mutational analysis of the CYP21 gene. NCCAH was defined in nine (5.7%) patients, all of whom had the V281L mutation. Four of the NCCAH patients were homozygote and four of them were heterozygote. One other patient was compound heterozygote for V281L mutation and the I2 splice mutation. One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. ACTH stimulated 17-OHP > or = 10 ng/mL in PP patients is load star to mutation analysis and heterozygote patients should be followed for clinical and biological hyperandrogenism up to completion of the whole 'genome sequence'.     

Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia

The aim of this study was to describe the characteristics and outcome in a group of pediatric patients with hematological malignancies who developed hemophagocytosis at diagnosis or during the disease course. Eight patients with hematological malignancy and associated hemophagocytosis were included. The initial diagnosis was juvenile myelomonocytic leukemia (JMML) in five, nonlymphoblastic leukemia (ANLL) in two, and T-cell lymphoma associated with myeloproliferative syndrome in one patient. Hemophagocytosis was concomitantly present at the time of diagnosis of the primary disease in four of the five patients with JMML and in the two patients with ANLL. Three had abnormalities related to chromosome 8 [(trisomy 8, monosomy 8, and t (8;13) (p11; p12)], and one had inversion 16. Multiple chromosomal losses were present in one patient, including both chromosomes 8 and 16. Bone marrow karyotyping revealed 46, XX; 47, XXX mosaicism in one patient. Two patients had PTPN11 mutation and one patient k-RAS mutation. The patients with JMML and neurofibromatosis (n = 2), the patient with lymphoma and t (8;13) positive AML, and a fourth patient with PTPN11 mutation did not remit and had unfavorable outcomes.