Results 31 to 40 of about 15,542 (225)
A new conceptual framework for investigating complex genetic disease [PDF]
, 2015 Some common diseases are known to have an inherited component, however their population- and familial-incidence patterns do not conform to any known monogenic Mendelian pattern of inheritance and instead they are currently much better explained if an ...
Shobbir Hussain
core +2 more sources
Epidemiology and treatment of perforated duodenal ulcer in Kemerovo Region
Фундаментальная и клиническая медицина, 2020 Aim. To estimate the frequency of ulcerative bleeding, pyloric stenosis, need for pyloroplasty and the justification of vagotomy for perforated duodenal ulcer.Materials and Methods.
V. I. Podoluzhnyi +2 more
doaj +1 more source
Lyme Borreliosis During Pregnancy [PDF]
, 2012 One of the authors (AL) presented a poster on 34 pregnancies of maternal Lyme borreliosis (Lb) in 1995. It was striking that untreated Lb associated with higher probability of adverse outcome but the number of patients were small and the statistical ...
Andrá, Norbert Solymosi
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Hypertrophic pyloric stenosis [PDF]
, 2013 A 6-week old baby was brought to A&E by her parents, after a 3 week history of frequent vomiting, not tolerating feeds, and weight loss. She was well for the first 3 weeks of life, before she stopped tolerating any feeds. Despite several changes with the
Tabone, Trevor +1 more
core
Spanish named entity recognition in the biomedical domain [PDF]
, 2018 Named Entity Recognition in the clinical domain and in languages different from English has the difficulty of the absence of complete dictionaries, the informality of texts, the polysemy of terms, the lack of accordance in the boundaries of an entity ...
Cotik, Viviana +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source
INFANTILE HYPERTROPHIC PYLORIC STENOSIS (IHPS)
Majalah Kedokteran Andalas, 2010 AbstrakInfantile hypertrophic pyloric stenosis (IHPS) adalah kelainan anatomi pada bayi dengan terjadinya hipertropi pada region pilorik yang menimbulkan obstruksi. Diagnosis dapat ditegakkan berdasarkan manifestasi klinis.
Yusri Dianne Jurnalis +2 more
doaj +1 more source
Neonatal azithromycin administration to prevent infant mortality: study protocol for a randomised controlled trial. [PDF]
, 2019 IntroductionBiannual mass azithromycin distribution to children aged 1-59 months has been shown to reduce all-cause mortality. Children under 28 days of age were not treated in studies evaluating mass azithromycin distribution for child mortality due to ...
Bagagnan, Cheik +15 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Using Peripheral Venous Pressure Waveforms to Predict Key Hemodynamic Parameters [PDF]
, 2019 Analysis of peripheral venous pressure (PVP) waveforms is a novel method of monitoring intravascular volume. Two cohorts were used to study the hemodynamics change of the body state and its influence on the PVP using (1) dehydration setting with infants ...
AlAlawi, Ali Zohair A
core +2 more sources