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https://www.readbyqxmd.com/read/28324028/a-duodenal-sdh-deficient-gastrointestinal-stromal-tumor-in-a-patient-with-a-germline-sdhb-mutation
#1
M S Elston, S Sehgal, M Dray, E Phillips, J V Conaglen, R J Clifton-Bligh, A J Gill
Context: Gastrointestinal Stromal Tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH) deficient GISTs are a unique class of GIST defined by: loss of immunohistochemical expression of SDHB indicating dysfunction of the mitochondrial complex 2, lack of driver mutations in KIT and PDGFRA, and a distinctive morphology and natural history. To date, all reported SDH-deficient GISTs have arisen in the stomach...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323974/phenotypic-spectrum-in-osteogenesis-imperfecta-due-to-mutations-in-tmem38b-unravelling-a-complex-cellular-defect
#2
Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J Crabtree, Brandi M Sargent, Sonja Gamsjaeger, Eleftherios P Paschalis, Paul Roschger, Klaus Klaushofer, Nick J Shaw, Joan C Marini, Wolfgang Högler
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies. Design and Setting: Natural history study in paediatric research centres. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included: bone mineral density, radiographs, echocardiography and muscle biopsy...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323801/predicting-acute-compartment-syndrome-pacs-the-role-of-continuous-monitoring
#3
Andrew H Schmidt, Michael J Bosse, Katherine P Frey, Robert V OʼToole, Daniel J Stinner, Daniel O Scharfstein, Vadim Zipunnikov, Ellen J MacKenzie
The diagnosis of acute compartment syndrome (ACS) is a common clinical challenge among patients who sustain high-energy orthopaedic trauma, largely because no validated criteria exist to reliably define the presence of the condition. In the absence of validated diagnostic standards, concern for the potential clinical and medicolegal impact of a missed compartment syndrome may result in the potential overuse of fasciotomy in "at-risk" patients. The goal of the Predicting Acute Compartment Syndrome Study was to develop a decision rule for predicting the likelihood of ACS that would reduce unnecessary fasciotomies while guarding against potentially missed ACS...
April 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28323757/the-performance-of-human-papillomavirus-biomarkers-in-predicting-anal-high-grade-squamous-intraepithelial-lesions-in-gay-and-bisexual-men
#4
Fengyi Jin, Jennifer M Roberts, Andrew E Grulich, I Mary Poynten, Dorothy A Machalek, Alyssa Cornall, Samuel Phillips, Deborah Ekman, Ross L Mcdonald, Richard J Hillman, David J Templeton, Annabelle Farnsworth, Suzanne M Garland, Christopher K Fairley, Sepehr N Tabrizi
BACKGROUND: We evaluate the performance of human papillomavirus (HPV) biomarkers in prediction of anal histological high-grade squamous intraepithelial lesions (HSIL) in gay and bisexual men (GBM) in Sydney, Australia. DESIGN: Baseline analysis of a three-year cohort study METHODS:: The Study of the Prevention of Anal Cancer (SPANC) is natural history study of anal HPV infection in GBM aged ≥35 years. All participants completed cytological and histological assessments...
March 18, 2017: AIDS
https://www.readbyqxmd.com/read/28323748/serum-aminotransferase-flares-in-pregnant-and-postpartum-women-with-current-or-prior-treatment-for-chronic-hepatitis-b
#5
Christine Y Chang, Natali Aziz, Mugilan Poongkunran, Asad Javaid, Huy N Trinh, Daryl T Lau, Mindie H Nguyen
BACKGROUND AND AIMS: Antiviral therapy is recommended for pregnant women with chronic hepatitis B (CHB) and hepatitis B virus (HBV) DNA>200,000 IU/mL, but there is less consensus on management of women who discontinue therapy in anticipation of pregnancy or who become pregnant while on therapy. The goal of this study was to describe flares in alanine aminotransferase (ALT) during pregnancy and postpartum in CHB women with current and/or prior treatment. METHODS: This was a multicenter, retrospective study of 67 pregnancies in 56 CHB women treated before and/or during pregnancy...
March 20, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28320069/usefulness-of-laboratory-and-radiological-investigations-in-the-management-of-supraventricular-tachycardia
#6
Aadith Ashok, Miguel Cabalag, David McD Taylor
OBJECTIVE: Although ED patients presenting with supraventricular tachycardia (SVT) are commonly investigated, the value of these investigations has been questioned. We aimed to determine the frequency and utility of investigations in patients with SVT. METHODS: We undertook an explicit retrospective medical record audit of patients with SVT who presented to a single ED (January 2004 to June 2014). Data on demographics, presenting complaints, investigations and outcomes were extracted...
March 20, 2017: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/28319571/hpv-independent-differentiated-vulvar-intraepithelial-neoplasia-dvin-is-associated-with-an-aggressive-clinical-course
#7
Jessica N McAlpine, So Youn Kim, Ardalan Akbari, Sima Eshragh, Miriam Reuschenbach, Magnus von Knebel Doeberitz, Elena S Prigge, Suzanne Jordan, Naveena Singh, Dianne M Miller, C Blake Gilks
Differentiated vulvar intrapeithelial neoplasia (dVIN) is an human papillomavirus (HPV)-independent precursor of squamous cell carcinoma (SCC), and the aim of this study was to better characterize its natural history. Cases of dVIN were identified from the pathology archives. Outcomes of patients with dVIN only, without associated invasive SCC, were compared with a cohort of patients with high-grade squamous intraepithelial lesion [HSIL(VIN3)]. Eighteen patients diagnosed with dVIN with adjacent invasive SCC (SCC/dVIN) and 7 patients with dVIN only, without invasive carcinoma, were identified...
March 17, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28319479/brainstem-evoked-potential-indices-of-subcortical-auditory-processing-after-mild-traumatic-brain-injury
#8
Kathy R Vander Werff, Brian Rieger
OBJECTIVES: The primary aim of this study was to assess subcortical auditory processing in individuals with chronic symptoms after mild traumatic brain injury (mTBI) by measuring auditory brainstem responses (ABRs) to standard click and complex speech stimuli. Consistent with reports in the literature of auditory problems after mTBI (despite normal-hearing thresholds), it was hypothesized that individuals with mTBI would have evidence of impaired neural encoding in the auditory brainstem compared to noninjured controls, as evidenced by delayed latencies and reduced amplitudes of ABR components...
March 17, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28319463/solid-cancer-incidence-among-the-life-span-study-of-atomic-bomb-survivors-1958-2009
#9
Eric J Grant, Alina Brenner, Hiromi Sugiyama, Ritsu Sakata, Atsuko Sadakane, Mai Utada, Elizabeth K Cahoon, Caitlin M Milder, Midori Soda, Harry M Cullings, Dale L Preston, Kiyohiko Mabuchi, Kotaro Ozasa
This is the third analysis of solid cancer incidence among the Life Span Study (LSS) cohort of atomic bomb survivors in Hiroshima and Nagasaki, adding eleven years of follow-up data since the previously reported analysis. For this analysis, several changes and improvements were implemented, including updated dose estimates (DS02R1) and adjustment for smoking. Here, we focus on all solid cancers in aggregate. The eligible cohort included 105,444 subjects who were alive and had no known history of cancer at the start of follow-up...
March 20, 2017: Radiation Research
https://www.readbyqxmd.com/read/28319359/de-novo-synthesis-of-mono-and-oligosaccharides-via-dihydropyran-intermediates
#10
Wangze Song, Shuojin Wang, Weiping Tang
The importance of carbohydrates is evident by its essential role in all living systems. Their syntheses have attracted chemists' attention for over a century. Most chemical syntheses in this area focused on the preparation of carbohydrates from naturally occurring monosaccharides. De novo chemical synthesis of carbohydrates from feedstock starting materials has emerged as a complementary method for the preparation of diverse mono- and oligosaccharides. In this review, we will briefly discuss the history of de novo carbohydrate synthesis and focus on methods that address the formation of glycosidic bonds for potential de novo synthesis of oligosaccharides...
March 20, 2017: Chemistry, An Asian Journal
https://www.readbyqxmd.com/read/28318817/clinical-and-mutational-characteristics-of-duchenne-muscular-dystrophy-patients-based-on-a-comprehensive-database-in-south-china
#11
Dan-Ni Wang, Zhi-Qiang Wang, Lei Yan, Jin He, Min-Ting Lin, Wan-Jin Chen, Ning Wang
The development of clinical trials for Duchenne muscular dystrophy (DMD) in China faces many challenges due to limited information about epidemiological data, natural history and clinical management. To provide these detailed data, we developed a comprehensive database based on registered DMD patients from South China and analysed their clinical and mutational characteristics. The database included DMD registrants confirmed by clinical presentation, family history, genetic detection, prognostic outcome, and/or muscle biopsy...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28317591/renal-myolipoosteoma-a-distinctive-lesion-in-a-child
#12
REVIEW
Hongbiao Jing, Tailing Li, Shujian Zhai, Yan Xi, Qingda Meng
We describe a distinctive renal tumor, a myolipoosteoma (MLO), in an 11-year-old boy who presented with a 6-month history of slight right flank intermittent pain. A gross examination revealed a well-defined, 5.5 cm mass with bone-like consistency. The lesion histologically featured an admixture of mature adipose tissue, spindle cells, and bony components. No atypia, mitotic activity, or pleomorphisms were observed in the tumor. The spindle cells were smooth muscle actin (SMA) and desmin positive but HMB45 and Melan-A negative, indicating that they were of a muscular nature and differed from that of angiomyolipoma (AML)...
March 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28317394/an-update-on-the-pathophysiology-and-management-of-polycystic-liver-disease
#13
May Yw Wong, Geoffrey W McCaughan, Simone I Strasser
Polycystic liver disease (PLD) is characterized by the presence of multiple cholangiocyte-derived hepatic cysts that progressively replace liver tissue. They are classified as an inherited ciliopathy /cholangiopathy as pathology exists at the level of the primary cilia of cholangiocytes. Aberrant expression of the proteins in primary cilia can impair their structures and functions, thereby promoting cystogenesis. Areas covered: This review begins by looking at the epidemiology of PLD and its natural history...
March 18, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28317278/species-traits-help-predict-small-mammal-responses-to-habitat-homogenization-by-an-invasive-grass
#14
Joseph P Ceradini, Anna D Chalfoun
Invasive plants can negatively affect native species, however, the strength, direction, and shape of responses may vary depending on the type of habitat alteration and the natural history of native species. To prioritize conservation of vulnerable species, it is therefore critical to effectively predict species' responses to invasive plants, which may be facilitated by a framework based on species' traits. We studied the population and community responses of small mammals and changes in habitat heterogeneity across a gradient of cheatgrass (Bromus tectorum) cover, a widespread invasive plant in North America...
March 20, 2017: Ecological Applications: a Publication of the Ecological Society of America
https://www.readbyqxmd.com/read/28316114/a-single-haplotype-hyposensitive-to-light-and-requiring-strong-vernalization-dominates-arabidopsis-thaliana-populations-in-patagonia-argentina
#15
Luciana Kasulin, Beth Rowan, Rolando J C León, Verena J Schuenemann, Detlef Weigel, Javier F Botto
The growing collection of sequenced or genotyped Arabidopsis thaliana accessions includes mostly individuals from the native Eurasian and N. African range and introduced North American populations. Here, we describe the genetic and phenotypic diversity, along with habitats and life history, of A. thaliana plants collected at the southernmost end of its worldwide distribution. Seed samples were harvested from plants growing in four sites within a ~3500-km(2) -area in Patagonia, Argentina, and represent the first germplasm to be collected in South America for this species...
March 17, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28315827/contemporary-management-of-low-grade-glioma-a-paradigm-shift-in-neuro-oncology
#16
REVIEW
Caroline Hayhurst
Supratentorial diffuse intrinsic low-grade gliomas represent a distinct but heterogenous group of tumours, with the propensity to grow and to differentiate into malignant tumours. They have been historically viewed in the 'benign' spectrum of intrinsic brain tumours, so a watch-and-wait policy was often adopted. With recent advances in our understanding of the natural history of these tumours, combined with advances in surgical technique, an aggressive approach is now recommended. Increasing quality evidence of the impact of tumour resection and multicentre trials of adjuvant radiotherapy and chemotherapy have led to a new algorithm for low-grade glioma management...
March 18, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28315409/in-vivo-tau-pet-imaging-in-dementia-pathophysiology-radiotracer-quantification-and-a-systematic-review-of-clinical-findings
#17
REVIEW
Benjamin Hall, Elijah Mak, Simon Cervenka, Franklin I Aigbirhio, James B Rowe, John T O'Brien
In addition to the deposition of β-amyloid plaques, neurofibrillary tangles composed of aggregated hyperphosphorylated tau are one of the pathological hallmarks of Alzheimer's disease and other neurodegenerative disorders. Until now, our understanding about the natural history and topography of tau deposition has only been based on post-mortem and cerebrospinal fluid studies, and evidence continues to implicate tau as a central driver of downstream neurodegenerative processes and cognitive decline. Recently, it has become possible to assess the regional distribution and severity of tau burden in vivo with the development of novel radiotracers for positron emission tomography (PET) imaging...
March 14, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/28315034/natural-history-of-pancreatic-cysts
#18
REVIEW
Alexander Larson, Richard S Kwon
Pancreatic cystic neoplasms are discovered with increasing frequency. Accurate knowledge of the natural history of cystic neoplasms is crucial to develop useful and cost-effective strategies for surveillance and surgical resection. To date, the natural history of cystic neoplasms is still incomplete due to lack of adequate diagnostic accuracy in the absence of surgical pathology. Nevertheless, current evidence points to risk factors for malignant transformation to help clinical management. New biomarkers that accurately distinguish cyst neoplasms and those most likely to progress to cancer would help clarify the natural history of cystic neoplasms...
March 17, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28306613/estimating-local-chlamydia-incidence-and-prevalence-using-surveillance-data
#19
Joanna Lewis, Peter J White
BACKGROUND: Understanding patterns of chlamydia prevalence is important for addressing inequalities and planning cost-effective control programs. Population-based surveys are costly; the best data for England come from the Natsal national surveys, which are only available once per decade, and are nationally representative but not powered to compare prevalence in different localities. Prevalence estimates at finer spatial and temporal scales are required. METHODS: We present a method for estimating local prevalence by modeling the infection, testing and treatment processes...
March 15, 2017: Epidemiology
https://www.readbyqxmd.com/read/28306231/cover-image-volume-175c-number-1-march-2017
#20
(no author information available yet)
The cover image, by Brad Tinkle et al., is based on the Research Article Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history, DOI: 10.1002/ajmg.c.31538.
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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