Massive upper gastrointestinal bleeding from an accessory splenic artery mimicking isolated gastric varices

Knowledge of anatomical variations of coeliac trunk and its branches is important for surgeons and interventional radiologists planning surgical and radiological interventions. We describe a case of a 42-year-old male with an accessory splenic artery (ASA) originating from the left gastric artery (LGA) running in the wall of gastric fundus and mimicking isolated gastric varices, which was observed during endoscopy. Bleeding from this artery was massive and was managed with endovascular coil embolisation. Coeliac angiography of the patient with upper gastrointestinal bleeding showed that the coeliac trunk divided into 3 arteries: the LGA, the splenic artery, and the right hepatic artery. Additionally, the variations of ASA and the left hepatic artery arising from LGA, and the left and right inferior phrenic arteries arising from ASA were identified. This case is the first to be presented in the literature with ASA originating from LGA that was situated in the gastric wall where inferior phrenic arteries arose from the ASA

Intracranial Meningioma Diagnosed during Pregnancy Caused Maternal Death

Brain tumors are rarely diagnosed during pregnancy. Accelerated growth of intracranial meningiomas during pregnancy sometimes requires urgent surgical intervention. We describe a 41-year-old pregnant woman with severe neurological decompensation requiring immediate neurosurgery. Cesarean section resulted in maternal death. Meningioma diagnosed during a viable pregnancy should be managed according to the severity of maternal neurological symptoms and gestational age of pregnancy. Early intervention for intracranial tumors during pregnancy may save maternal and fetal lives

Molecular Mechanisms of Adiponectin-Induced Attenuation of Mechanical Stretch-Mediated Vascular Remodeling

Hypertension induces vascular hypertrophy, which changes blood vessels structurally and functionally, leading to reduced tissue perfusion and further hypertension. It is also associated with dysregulated levels of the circulating adipokines leptin and adiponectin (APN). Leptin is an obesity-associated hormone that promotes vascular smooth muscle cell (VSMC) hypertrophy. APN is a cardioprotective hormone that has been shown to attenuate hypertrophic cardiomyopathy. In this study, we investigated the molecular mechanisms of hypertension-induced VSMC remodeling and the involvement of leptin and APN in this process. To mimic hypertension, the rat portal vein (RPV) was mechanically stretched, and the protective effects of APN on mechanical stretch-induced vascular remodeling and the molecular mechanisms involved were examined by using 10μg/ml APN. Mechanically stretching the RPV significantly decreased APN protein expression after 24 hours and APN mRNA expression in a time-dependent manner in VSMCs. The mRNA expression of the APN receptors AdipoR1, AdipoR2, and Tcadherin significantly increased after 15 hours of stretch. The ratio of APN/leptin expression in VSMCs significantly decreased after 24 hours of mechanical stretch. Stretching the RPV for 3 days increased the weight and [3H]-leucine incorporation significantly, whereas APN significantly reduced hypertrophy in mechanically stretched vessels. Stretching the RPV for 10 minutes significantly decreased phosphorylation of LKB1, AMPK, and eNOS, while APN significantly increased p-LKB1, pAMPK, and p-eNOS in stretched vessels. Mechanical stretch significantly increased p-ERK1/2 after 10 minutes, whereas APN significantly reduced stretch-induced ERK1/2 phosphorylation. Stretching the RPV also significantly increased ROS generation after 1 hour, whereas APN significantly decreased mechanical stretch-induced ROS production. Exogenous leptin (3.1nM) markedly increased GATA-4 nuclear translocation in VSMCs, whereas APN significantly attenuated leptin-induced GATA-4 nuclear translocation. Our results decipher molecular mechanisms of APN-induced attenuation of mechanical stretch-mediated vascular hypertrophy, with the promising potential of ultimately translating this protective hormone into the clinic.This work was supported by the Medical Practice Plan (MPP), Faculty of Medicine at AUB to AZ, the National Council for Scientific Research of Lebanon (CNRS-L) to CMG, and the graduate teaching/research assistantship support from Qatar University to SA. The publication of this article was funded by the Qatar National Library

A Biallelic Frameshift Indel in PPP1R35 as a Cause of Primary Microcephaly

Protein phosphatase 1 regulatory subunit 35 (PPP1R35) encodes a centrosomal protein required for recruiting microtubule-binding elongation machinery. Several proteins in this centriole biogenesis pathway correspond to established primary microcephaly (MCPH) genes, and multiple model organism studies hypothesize PPP1R35 as a candidate MCPH gene. Here, using exome sequencing (ES) and family-based rare variant analyses, we report a homozygous, frameshifting indel deleting the canonical stop codon in the last exon of PPP1R35 [Chr7: c.753_*3delGGAAGCGTAGACCinsCG (p.Trp251Cysfs*22)]; the variant allele maps in a 3.7 Mb block of absence of heterozygosity (AOH) in a proband with severe MCPH (-4.3 SD at birth, -6.1 SD by 42 months), pachygyria, and global developmental delay from a consanguineous Turkish kindred. Droplet digital PCR (ddPCR) confirmed mutant mRNA expression in fibroblasts. In silico prediction of the translation of mutant PPP1R35 is expected to be elongated by 18 amino acids before encountering a downstream stop codon. This complex indel allele is absent in public databases (ClinVar, gnomAD, ARIC, 1000 genomes) and our in-house database of 14,000+ exomes including 1800+ Turkish exomes supporting predicted pathogenicity. Comprehensive literature searches for PPP1R35 variants yielded two probands affected with severe microcephaly (-15 SD and -12 SD) with the same homozygous indel from a single, consanguineous, Iranian family from a cohort of 404 predominantly Iranian families. The lack of heterozygous cases in two large cohorts representative of the genetic background of these two families decreased our suspicion of a founder allele and supports the contention of a recurrent mutation. We propose two potential secondary structure mutagenesis models for the origin of this variant allele mediated by hairpin formation between complementary GC rich segments flanking the stop codon via secondary structure mutagenesis

A gastrointestinal stromal tumor with mesenteric and retroperitoneal invasion

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal stromal tumors are rare visceral sarcomas arising in the gastrointestinal tract wall. In this report we present a case of gastrointestinal stromal tumors with mesenteric and retroperitoneal invasion, describe and discuss its computed tomography findings.</p> <p>Case presentation</p> <p>A 57-years-old male patient has been complaining of abdominal distention, weight lose, and hematuria. During physical examination, significant distention and multiple palpable tumor masses were identified on the abdomen. Abdominal computed tomography showed multiple, well-defined, soft tissue masses with homogenous and heterogeneous pattern, in the mesenteric and retroperitoneal areas. Unlike specific features of gastrointestinal stromal tumor, renal obstruction and atypical central calcification without chemotherapy that has not been yet described were seen in this case. Computed tomography did not reveal liver metastases and/or the lymph nodes with pathological size. Ultrasonography-guided true-cut^®biopsy was made, histopathologic and immunohistochemical analyses demonstrated stromal tumor which, C-KIT (+). The patient underwent left ureterectomy, left nephrectomy and total colectomy. Postoperative histopathological analyses revealed lower grade malignant GISTs. As of 17 months after the surgery, he is alive and free of recurrence.</p> <p>Conclusion</p> <p>When intraabdominal, multiple, large (>5 cm), well-circumscribed, homogenous or heterogeneous mass lesions without ascites, omental caking and lymph nodes metasteses were seen, gastrointestinal stromal tumors should be considered in the differential diagnosis.</p

Cholangiocarcinoma in Magnetic Resonance Cholangiopancreatography and Fascioliasis in Endoscopic Ultrasonography

Fascioliasis is a worldwide zoonotic infection with Fasciola hepatica and Fasciola gigantica. The zoonoses are particularly endemic in sheep-raising countries and are also endemic in Iran. Typical symptoms that may be associated with fascioliasis can be divided by phases of the disease, including the acute or liver phase, the chronic or biliary phase, and ectopic or pharyngeal fascioliasis. Cholestatic symptoms may be absent, and in some cases diagnosis and treatment may be preceded by a long period of abdominal pain, eosinophilia and vague gastrointestinal symptoms. We report a case with epigastric and upper quadrant abdominal pain for the last 4 years, with imaging suggesting cholangiocarcinoma. Considering a new concept of endoscopic ultrasonography, at last F. hepatica was extracted with endoscopic retrograde cholangiography

Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.

<p>Abstract</p> <p>Background</p> <p>Sequence related amplified polymorphism (SRAP) is commonly used to construct high density genetic maps, map genes and QTL of important agronomic traits in crops and perform genetic diversity analysis without knowing sequence information. To combine next generation sequencing technology with SRAP, Illumina's Solexa sequencing was used to sequence tagged SRAP PCR products.</p> <p>Results</p> <p>Three sets of SRAP primers and three sets of tagging primers were used in 77,568 SRAP PCR reactions and the same number of tagging PCR reactions respectively to produce a pooled sample for Illumina's Solexa sequencing. After sequencing, 1.28 GB of sequence with over 13 million paired-end sequences was obtained and used to match Solexa sequences with their corresponding SRAP markers and to integrate Solexa sequences on an ultradense genetic map. The ultradense genetic bin map with 465 bins was constructed using a recombinant inbred (RI) line mapping population in <it>B. rapa</it>. For this ultradense genetic bin map, 9,177 SRAP markers, 1,737 integrated unique Solexa paired-end sequences and 46 SSR markers representing 10,960 independent genetic loci were assembled and 141 unique Solexa paired-end sequences were matched with their corresponding SRAP markers. The genetic map in <it>B. rapa </it>was aligned with the previous ultradense genetic map in <it>B. napus </it>through common SRAP markers in these two species. Additionally, SSR markers were used to perform alignment of the current genetic map with other five genetic maps in <it>B. rapa </it>and <it>B. napus</it>.</p> <p>Conclusion</p> <p>We used SRAP to construct an ultradense genetic map with 10,960 independent genetic loci in <it>B. rapa </it>that is the most saturated genetic map ever constructed in this species. Using next generation sequencing, we integrated 1,878 Solexa sequences on the genetic map. These integrated sequences will be used to assemble the scaffolds in the <it>B. rapa </it>genome. Additionally, this genetic map may be used for gene cloning and marker development in <it>B. rapa </it>and <it>B. napus</it>.</p

The epidemiology and factors associated with nocturnal enuresis among boarding and daytime school children in southeast of Turkey: a cross sectional study

<p>Abstract</p> <p>Background</p> <p>Nocturnal enuresis is an important problem among young children living in Turkey. The purpose of this study was to determine the possible differences in the prevalence of enuresis between children in boarding school and daytime school and the association of enuresis with sociodemographic factors.</p> <p>Methods</p> <p>This was a cross-sectional survey. A total of 562 self-administered questionnaires were distrubuted to parents from two different types of schools. One of them was a day-time school and the other was a boarding school. To describe enuresis the ICD-10 definition of at least one wet night per month for three consecutive months was used. Chi-square test and a logistic regression model was used to identify significant predictive factors for enuresis.</p> <p>Results</p> <p>The overall prevalence of nocturnal enuresis was 14.9%. The prevalence of nocturnal enuresis declined with age. Of the 6 year old children 33.3% still wetted their beds, while the ratio was 2.6% for 15 years-olds. There was no significant difference in prevalence of nocturnal enuresis between boys and girls (14.3% versus 16. 8%). Enuresis was reported as 18.5% among children attending day time school and among those 11.5% attending boarding school (p < 0.05). Prevalence of enuresis was increased in children living in villages, with low income and with positive family history (p < 0.05). After multivariate analysis, history of urinary tract infection (OR = 2.02), age (OR = 1.28), low monthly income (OR = 2.86) and family history of enuresis (OR = 3.64) were factors associated with enuresis. 46.4% of parents and 57.1% of enuretic children were significantly concerned about the impact of enuresis.</p> <p>Conclusion</p> <p>Enuresis was more frequent among children attending daytime school when compared to boarding school. Our findings suggest that nocturnal enuresis is a common problem among school children, especially with low income, smaller age, family history of enuresis and history of urinary tract infection. Enuresis is a pediatric public health problem and efforts at all levels should be made such as preventive, etiological and curative.</p

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease

Behcet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Behcet's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Behcet's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 x 10(-8)). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 x 10(-18), odds ratio = 1.45, 95% CI 1.34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production