Childhood tumors of the brain: demographic pattern over a ten-year period in the Kashmir Valley

Brain tumors in children represent the second most frequent tumors in this age group after hematologic malignancies. We highlight the demographic pattern after retrospective analysis of brain tumors in children from geographically and ethnically distinct Kashmir Valley managed in our center between 2000 and 2009. We had a total of 248 pediatric patients with brain tumors. The parameters analyzed were age, gender, location of tumors and histopathological subtypes as well as WHO grade of tumor. We also did a comparison between the frequencies of common varieties of tumor in the first and second 5-year periods. We found that 111 tumors (44.75%) were supratentorial, and 137 (55.25%) were infratentorial. The male-to-female ratio was 1.4:1. The proportions of low-grade and high-grade tumors were 60 and 40%, respectively. The most common tumor in our series was astrocytoma. The most common tumors in the supratentorial and infratentorial compartments were craniopharyngioma and medulloblastoma, respectively. Our experience reflects a different demographic profile of pediatric brain tumors as compared with other regions of the world.     

5-脂氧合酶激活蛋白抑制剂MK886对人食管癌细胞系增殖和凋亡的影响

目的 5-脂氧合酶活化蛋白（FLAP）抑制剂MK886对人食管癌细胞系（KYSE-150和TE-3）增殖和凋亡的影响及作用机制。方法用2.5、5、10、20、40和80μmol/L的MK886干预体外培养的KYSE-150和TE-3细胞;xCELLigence RTCA系统实时测定细胞增殖抑制率,同时确定半数抑制浓度(IC₅₀)。流式细胞测量术检测食管癌细胞的细胞周期。Western blot检测细胞凋亡和自噬相关蛋白的表达。结果人食管癌细胞系（KYSE-150和TE-3）的增殖抑制率随着MK886浓度增加而增强（P<0.05）,KYSE-150组的IC₅₀浓度为29.11μmol/L,TE-3组的IC₅₀浓度为27.47μmol/L。当MK886浓度增加至25μmol/L时,食管癌细胞G₀/G₁期滞后增加明显（P<0.001）,MK886处理浓度增加到50μmol/L时,食管癌细胞G₂/M期增加明显（P<0.001和P<0.05）...     

精神障碍患者自我面孔识别的行为特征与异常神经活动

自闭症、精神分裂症、抑郁障碍等精神障碍患者均表现出自我面孔识别缺陷。行为特征包括识别困难、错误率更高、反应速度更慢、速度加工优势消失、知觉加工受损及认知评价与情绪反应失调等;神经活动异常出现在自我面孔识别的各个加工阶段,涉及面孔结构编码相关的枕颞皮层、自我参照加工相关的皮质中线结构、认知控制有关的额顶控制网络以及情绪加工相关的脑岛等脑区。元分析结果揭示精神障碍患者额下回、内侧前额叶、海马旁回和脑岛等脑区活动存在异常。未来研究应结合时间和空间信息数据并关注脑区间协同功能的损伤,关注各类精神障碍患者自我面孔识别的共同特征及其独特性,并发掘自我面孔识别在精神障碍早期诊断中的潜在价值。     

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11. Comparative sequence analysis reveals 92-96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution (5-10 million years ago). Analysis of sequences flanking the duplication region identifies the presence of an unusual GCTTTTTGC repeat which may be a sequence-specific integration site for the process of pericentromeric- directed transposition. The breakpoint sequence and phylogenetic analysis predict a two-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. In addition to facilitating more effective mutation detection among ALD patients, these findings provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for non- homologous interchromosomal exchange.      

Infective endocarditis due to Salmonella typhi--a case report

Endocarditis is a rare complication of typhoid fever. We report a case in which Salmonella enterica serotype typhi was isolated from a case of endocarditis. The isolate was resistant to ampicillin, chloramphenicol and ciprofloxacin but sensitive to ceftriaxone, amikacin and gentamicin.     

淫羊藿总黄酮调控Wnt/β-catenin信号通路对去卵巢大鼠抗骨质疏松作用研究

目的 通过淫羊藿总黄酮(TFE)对去卵巢大鼠骨组织Wnt/β-catenin信号通路及腰椎骨和股骨生物力学性能影响研究,探讨TFE对去卵巢大鼠抗骨质疏松的可能机制.方法 选用40只90天龄的SPF级SD雌性大白鼠,随机分为4组:对照组、去卵巢组(OVX)组、去卵巢+己烯雌酚(DES)组、去卵巢+淫羊藿总黄酮(TFE)组.实验持续12周后处死全部大鼠,取腰椎骨、股骨分别测量生物力学参数及骨密度.免疫蛋白印迹法检测各组大鼠胫骨骨皮质区p-GSK3-β(thr9)、RANKL、OPG、β-catenin蛋白表达水平.结果 与对照组比较,OVX组大鼠股骨、腰椎骨的生物力学性能及骨密度下降(P＜0.05);DES组、TFE组股骨和腰椎骨的生物力学性能和骨密度较去卵巢OVX组明显改善(P＜0.05);两治疗组的组间差异无统计学意义(P＞0.05).免疫蛋白印迹法提示去卵巢大鼠分别加用TFE、DES治疗后,胫骨蛋白β-catenin、OPG表达上调,p-GSK3-β(thr9)、RANKL表达下调.结论 淫羊藿总黄酮能够改善去卵巢大鼠的骨生物力学性能,上调Wnt/β-catenin信号通路,从而改善骨质疏松.     

Cerebrospinal fluid profile of amyloid β42 (Aβ42), hTau and ubiquitin in North Indian Alzheimer's disease patients

Alzheimer's disease (AD) is the most common form of dementia, and is characterized by the degeneration of neurons and their synapses, and a higher number of amyloid plaques and neurofibrillary tangles (NFTs) compared with that found in non-demented individuals. Amyloid-β-peptides (Aβ) are major components of amyloid plaques in AD brain whereas NFTs are composed of Tau and associated with ubiquitin. The aim of the present study was to analyze the levels of Aβ42, hTau (total Tau) and ubiquitin in CSF of North Indian population. CSF Aβ42, Tau and ubiquitin were measured in CSF of AD patients as well as controls using ELISA assays. Here we report low Aβ42 levels in AD patients (324.24 ± 76.38 pg/ml) as compared to those in non-AD (NAD) (668.34 ± 43.13 pg/ml), neurological controls (NCs) (727.28 ± 46.49 pg/ml) and healthy controls (HCs) (976.47 ± 124.46 pg/ml). In contrast, hTau and ubiquitin levels were significantly high (568.65 ± 48.89 pg/ml and 36.82 ± 4.34 ng/ml, respectively) in AD patients compared to those in NAD, NC and HC. The hTau levels were 267.37 ± 36.64 pg/ml, 167.34 ± 44.27 pg/ml and 107.62 ± 24.27 pg/ml in NAD, NC and HC, respectively. Similarly, ubiquitin levels were 23.57 ± 2.32 ng/ml, 19.76 ± 3.64 ng/ml and 13.24 ± 4.56 ng/ml in NAD, NC and HC, respectively. In conclusion, low Aβ42 and high Tau–ubiquitin levels were found in North Indian AD patients.     

Emergency Peripartum Hysterectomy: A 13-Year Review at a Tertiary Center in Kuwait

Objective

To determine the incidence, indications, risk factors, and complications of emergency peripartum hysterectomy (EPH) and to evaluate total versus subtotal hysterectomy for EPH.

Materials and Methods

This is a retrospective case series involving thorough examination of the files of all women who had EPH between January 2000 and December 2012 in the department of Obstetrics and Gynecology, Al-Jahra hospital, Kuwait after taking approval from the ethics committee. Incidence, indications, risk factors, type of hysterectomy, and complications of EPH were obtained from patient files.

Results

There were 63,337 deliveries of which 70.3 % were vaginal deliveries, and 29.6 % were by cesarean section (CS). Sixty-eight women underwent EPH representing an overall incidence of 1 case per 1,000 deliveries. The indications for EPH included abnormal placentation (77.4 %), uterine atony (14.5 %), and uterine rupture (8.1 %). There was one maternal death. Maternal morbidity occurred in 25 (40.3 %) women. The most common complications were mild to severe coagulopathy (19.35 %) and injury to the urinary tract (17.74 %). Injury to the ureter was avoided by placing ureteric stents preoperatively. Our population was significant in having higher rate of CS deliveries (91.9 %), women with prior CS (83.87 %), and high parity (mean 5.8).

Conclusion

Abnormal placentation was the most common indication to perform EPH. The relative risk of EPH was 27 for CS deliveries as compared to vaginal deliveries. There was no significant difference between subtotal versus total hysterectomy with respect to age, parity, previous CS, operative time, blood transfusion, and intra and post operative complications.     

Ocular toxocariasis in a child: a case report from Kashmir, north India

Toxocariasis is an important zoonotic disease caused by the second stage larva of Toxocara canis or Toxocara cati . The typical clinical syndromes of toxocariasis in humans are visceral and ocular toxocariasis. Ocular toxocariasis may presents as peripheral inflammatory mass, posterior pole granuloma and endophthalmitis. We report a serologically confirmed case of ocular toxocariasis in 12-year-old female. The diagnosis was confirmed by detection of anti- Toxocara antibodies in aqueous and vitreous sample by enzyme-linked immunosorbent assay. We suggest that ophthalmologist in this region should include ocular toxocariasis in differential diagnosis particularly in children and young adults.     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.