Postural balance in pregnancies complicated by hyperemesis gravidarum

Objective: To assess postural balance in females with pregnancies complicated by hyperemesis gravidarum (HG).

Methods: In this observational study, postural balance during the first trimester was measured using the Biodex Balance System (BBS) in 41 pregnant females (20 females with pregnancies complicated by HG and 21 healthy controls). The overall stability index (OA), anterior-posterior stability index (APSI), medial-lateral stability index (MLSI) and fall risk test (FRT) scores were obtained from the mean scores of three trials on the BSS. The four measurements obtained from the BBS (OA, APSI, MLSI and FRT) were compared between healthy pregnant females and those with pregnancies complicated by HG (HG group).

Results: The mean OA and APSI scores were significantly higher in the HG group compared to healthy pregnant controls (p?p?>?0.05). The FRT scores of HG patients were higher than healthy pregnant females (p?=?0.001).

Conclusions: Pregnant females with HG have poor postural stability/balance and high fall risk test scores. HG causes decreased postural equilibrium in the first trimester of pregnancy.     

Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing

Among gastrointestinal stromal tumors (GISTs) of 10–15% are negative for KIT and PDGFRA, and most of these cases are SDH deficient. Recent studies have provided data on additional molecular alterations such as KRAS in KIT mutant GISTs. We aimed to assess the frequency and spectrum of somatic mutations in common oncogenes as well as copy number variations in GISTs negative for KIT and PDGFRA mutations. GISTs with wild type KIT/PDGFRA were tested via next generation sequencing for somatic mutations in 341 genes. SDHB immunohistochemistry to evaluate for SDH deficiency was also performed. Of 267 GISTs tested for KIT and PDGFRA mutations, 15 were wild type, of which eight cases had material available for further testing. All eight cases had loss of SDHB expression and had various molecular alterations involving ARID1A, TP53, and other genes. One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post‐imatinib recurrence. This tumor had anaplastic features and was resistant to multiple tyrosine kinase inhibitors, ultimately resulting in cancer‐related mortality within 2 years of diagnosis. In conclusion, KRAS mutations occur in rare GISTs with wild type KIT and PDGFRA. These tumors may display immunohistochemical positivity for KIT and primary resistance to tyrosine kinase inhibitors. © 2014 Wiley Periodicals, Inc.     

Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP‐array and next generation sequencing analysis

Melanotic Schwannomas (MS) are rare tumors that share histological features with melanocytic tumors and schwannomas. However, their genetics are poorly understood. To elucidate the genetic characteristics of MS, we performed genome‐wide studies in a series of cases. Twelve MS cases were available for the study. Genomic DNAs extracted from formalin‐fixed paraffin embedded tumor tissues were subjected to copy number (CN) and allelic imbalance (AI) analysis by Single Nucleotide Polymorphism (SNP)‐array and screened for mutations in coding exons of 341 key cancer‐associated genes using a hybrid capture‐based next‐generation sequencing (NGS) assay. Sanger sequencing was used to further verify recurrent mutations detected by NGS study. SNP‐array analysis revealed remarkably stereotypic chromosomal abnormalities in MS. Hypodiploidy was common, typically involving monosomies of chromosomes 1, 2, and 17. All 12 samples showed mutations in PRKAR1A gene, including 2 cases with 2 mutations each. The 14 mutations were scattered across PRKAR1A, and most were inactivating mutations. AI on 17q, presenting as loss of heterozygosity with or without CN losses, combined with a PRKAR1A mutation was observed in 9/12 MS cases. The remaining 3 cases included the two samples harboring two mutations in PRKAR1A. MS exhibits a stereotypic pattern of chromosomal losses. In contrast, melanomas are typically characterized by the presence of multiple CN aberrations, without demonstrable differences in the frequency of losses and gains. Inactivation of both alleles of PRKAR1A by “two hits” observed in almost all cases underscores the central role of PRKAR1A in the pathogenesis of this neoplasm. © 2015 Wiley Periodicals, Inc.     

The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report

Hemophilia is a hereditary disease with impaired blood coagulation due to a genetic deficiency of blood coagulation factors. The development of inhibitors further complicates the course of the disease and management. The case is here reported of a haemophilia patient who presented with coexisting development of high titer inhibitor with Gastrointestinal Stromal Tumor (GIST) diagnosis and was admitted with upper gastrointestinal system bleeding. The patient had no prior history of inhibitor presence. During all procedures including surgery, excellent hemostasis was achieved with rFVIIa treatment and no hemorrhagic complication was observed. To the best of our knowledge, this constitutes the first reported case of GIST associated with inhibitor development in a hemophilia A patient.     

Predictive value of SYNTAX score II for clinical outcomes in cardiogenic shock underwent primary percutaneous coronary intervention; a pilot study

SYNTAX Score II (SSII) connects clinical variables with coronary anatomy. We investigated the prognostic value of SSII in patients with ST segment elevated myocardial infarction (STEMI) complicated with cardiogenic shock treated with primary percutaneous coronary intervention (PPCI). In this retrospective analysis, we evaluated the in-hospital prognostic impact of SSII on 492 patients with STEMI complicated with cardiogenic shock treated with PPCI. Patients were stratified by tertiles of SSII, in-hospital clinical outcomes were compared between those groups. In-hospital univariate analysis revealed higher rates of in-hospital death for patients with SSII in tertile 3, as compared to patients with SSII in tertile 1 (OR 17.4, 95% CI 10.0–30.2, p?<?0.001). After adjustment for confounding baseline variables, SSII in tertile 3 was associated with 6.2-fold hazard of in-hospital death (OR 6.2, 95% CI 2.6–14.1, p?<?0.001). SSII in patients with STEMI complicated with cardiogenic shock treated with PPCI provide an independent prognostic marker of in-hospital outcomes. Our data suggests SSII to be a simple, feasible and clinically applicable tool for rapid risk stratification in patients with STEMI complicated with cardiogenic shock treated with PPCI.     

Effect of regional cerebral oximetry to estimate neurologic prognostic outcomes in patients administered targeted temperature management

Purpose

The aim of our study is to research the role and efficacy of cerebral oximetry in predicting neurologic prognosis when applied during TTM to patients experiencing coma after CA.