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https://www.readbyqxmd.com/read/28103464/-perineal-groove-a-rare-congenital-anomaly
#1
Manuel Barbosa, Nuno Alves, Natacha Fontes
Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103463/-uterine-rupture-at-18-weeks-of-pregnancy-in-the-context-of-malformed-uterus
#2
Emídio Vale-Fernandes, Neusa Teixeira, Alexandra Cadilhe, Maria José Rocha
Birth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103325/assessing-fifty-years-of-general-health-surveillance-of-roe-deer-in-switzerland-a-retrospective-analysis-of-necropsy-reports
#3
Mirjam Pewsner, Francesco Carlo Origgi, Joachim Frey, Marie-Pierre Ryser-Degiorgis
General wildlife health surveillance is a valuable source of information on the causes of mortality, disease susceptibility and pathology of the investigated hosts and it is considered to be an essential component of early warning systems. However, the representativeness of data from such surveillance programs is known to be limited by numerous biases. The roe deer (Capreolus capreolus capreolus) is the most abundant ungulate and a major game species all over Europe. Yet, internationally available literature on roe deer pathology is scarce...
2017: PloS One
https://www.readbyqxmd.com/read/28103107/star-masses-and-star-planet-distances-for-earth-like-habitability
#4
David Waltham
This paper presents statistical estimates for the location and duration of habitable zones (HZs) around stars of different mass. The approach is based upon the assumption that Earth's location, and the Sun's mass, should not be highly atypical of inhabited planets. The results support climate-model-based estimates for the location of the Sun's HZ except models giving a present-day outer-edge beyond 1.64 AU. The statistical approach also demonstrates that there is a habitability issue for stars smaller than 0...
January 2017: Astrobiology
https://www.readbyqxmd.com/read/28102624/partial-monosomy-of-10p-and-duplication-of-another-chromosome-in-two-patients
#5
Sayaka Ohta, Tsuyoshi Isojima, Yoko Mizuno, Motohiro Kato, Masakazu Mimaki, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Junko Takita, Sachiko Kitanaka, Akira Oka
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102353/cofilin-regulates-nuclear-architecture-through-a-myosin-ii-dependent-mechanotransduction-module
#6
O'Neil Wiggan, Bryce Schroder, Diego Krapf, James R Bamburg, Jennifer G DeLuca
Structural features of the nucleus including shape, size and deformability impact its function affecting normal cellular processes such as cell differentiation and pathological conditions such as tumor cell migration. Despite the fact that abnormal nuclear morphology has long been a defining characteristic for diseases such as cancer relatively little is known about the mechanisms that control normal nuclear architecture. Mounting evidence suggests close coupling between F-actin cytoskeletal organization and nuclear morphology however, mechanisms regulating this coupling are lacking...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101868/dystrophin-and-spectrin-two-highly-dissimilar-sisters-of-the-same-family
#7
Olivier Delalande, Aleksander Czogalla, Jean-François Hubert, Aleksander Sikorski, Elisabeth Le Rumeur
Dystrophin and Spectrin are two proteins essential for the organization of the cytoskeleton and for the stabilization of membrane cells. The comparison of these two sister proteins, and with the dystrophin homologue utrophin, enables us to emphasise that, despite a similar topology with common subdomains and a common structural basis of a three-helix coiled-coil, they show a large range of dissimilarities in terms of genetics, cell expression and higher level structural organisation. Interactions with cellular partners, including proteins and membrane phospholipids, also show both strikingly similar and very different behaviours...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28101830/getting-ahead-of-yourself-parafoveal-word-expectancy-modulates-the-n400-during-sentence-reading
#8
Mallory C Stites, Brennan R Payne, Kara D Federmeier
An important question in the reading literature regards the nature of the semantic information readers can extract from the parafovea (i.e., the next word in a sentence). Recent eye-tracking findings have found a semantic parafoveal preview benefit under many circumstances, and findings from event-related brain potentials (ERPs) also suggest that readers can at least detect semantic anomalies parafoveally (Barber, Van der Meij, & Kutas, Psychophysiology, 50(1), 48-59, 2013). We use ERPs to ask whether fine-grained aspects of semantic expectancy can affect the N400 elicited by a word appearing in the parafovea...
January 18, 2017: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#9
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101154/minimally-invasive-open-nephrectomy-on-children-with-multicystic-dysplastic-kidney
#10
Dongchuan Feng, Xiaoyu Zhu, Fang Sun, Tongsheng Ma, Yuan Li, Shujing Chen
The aim of the study was to summarize the preliminary experience of minimally invasive open nephrectomy operation on children with multicystic dysplastic kidney (MCDK). A retrospective review was performed on the clinical materials of the 15 children that had accepted consecutive minimally invasive open nephrectomies during the previous 2 years. The enrolled children were diagnosed with unilateral MCDK under computed tomography, emission computerized tomography and ultrasound and no anomaly in the contralateral functioning kidney was found...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100981/isolated-left-subclavian-artery-complete-atrioventricular-block-and-tricuspid-atresia-in-a-neonate
#11
Kanupriya Chaturvedi, Deepa Prasad, Ravi Ashwath, James P Strainic, Christopher S Snyder
Isolated left subclavian artery is one of the rarer aortic arch anomalies. It has been associated with other congenital heart diseases, typically tetralogy of Fallot, double-outlet right ventricle, and atrial and ventricular septal defects. Its significant clinical implications include a left-to-right shunt from the vertebrobasilar system, which causes pulmonary overcirculation and subclavian steal. We present an unusual case of a premature infant who was diagnosed prenatally with congenital complete atrioventricular block and tricuspid atresia and was found to have an isolated left subclavian artery postnatally...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100222/gestational-age-and-1-year-hospital-admission-or-mortality-a-nation-wide-population-based-study
#12
Silvia Iacobelli, Evelyne Combier, Adrien Roussot, Jonathan Cottenet, Jean-Bernard Gouyon, Catherine Quantin
BACKGROUND: Describe the 1-year hospitalization and in-hospital mortality rates, in infants born after 31 weeks of gestational age (GA). METHODS: This nation-wide population-based study used the French medico-administrative database to assess the following outcomes in singleton live-born infants (32-43 weeks) without congenital anomalies (year 2011): neonatal hospitalization (day of life 1 - 28), post-neonatal hospitalization (day of life 29 - 365), and 1-year in-hospital mortality rates...
January 18, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28100158/double-inferior-vena-cava-ivc-with-intrahepatic-interruption-hemiazygos-vein-continuation-and-intrahepatic-venous-shunt
#13
Hilal Sahin, Yeliz Pekcevik, Ramazan Aslaner
The duplication of the inferior vena cava (IVC) is a rare congenital anomaly, which also has some variations regarding the complex embryological development of the IVC. In the typical form, infrarenal IVC segments are duplicated and the left IVC joins the left renal vein, which crosses anterior to the aorta in the normal fashion to join the right IVC. In variant forms, the interruption of the intrahepatic segment of the IVC, azygos or hemiazygos continuation, or retroaortic course of the renal vein may be seen...
January 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28100120/hybrid-stage-i-procedure-as-initial-palliation-for-neonate-with-hypoplastic-left-heart-syndrome-and-right-congenital-diaphragmatic-hernia
#14
Draginja Cvetkovic, Joseph Giamelli, Michael Lyew, Markus Erb, Suvro Sett, Youmna DiStefano
During the past decade, a hybrid procedure has emerged and dramatically evolved as an alternative stage I palliation to the conventional Norwood procedure in neonates with hypoplastic left heart syndrome (HLHS). The hybrid approach avoids the need for cardiopulmonary bypass (CPB) utilizing stenting of the arterial duct and bilateral pulmonary artery banding. Cerebral and coronary perfusion pressure is maintained, and the pulmonary vasculature is protected from higher systemic pressure. Elimination of risks associated with CPB gains vital time to stabilize the patient and correct coexisting noncardiac anomalies and allows growth in preparation for the later stages of the Fontan pathway...
January 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28100112/abortion-attitudes-among-south-africans-findings-from-the-2013-social-attitudes-survey
#15
Elizabeth A Mosley, Elizabeth J King, Amy J Schulz, Lisa H Harris, Nicole De Wet, Barbara A Anderson
Abortion is legal in South Africa, but over half of abortions remain unsafe there. Evidence suggests women who are (Black) African, of lower socioeconomic status, living with HIV, or residents of Gauteng, KwaZulu-Natal, or Limpopo provinces are disproportionately vulnerable to morbidity or mortality from unsafe abortion. Negative attitudes toward abortion have been documented in purposively sampled studies, yet it remains unclear what attitudes exist nationally or whether they differ across sociodemographic groups, with implications for inequities in service accessibility and health...
January 19, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28099965/pilot-test-of-a-new-personal-health-system-integrating-environmental-and-wearable-sensors-for-telemonitoring-and-care-of-elderly-people-at-home-smarta-project
#16
Lucia Pigini, Gabriele Bovi, Claudia Panzarino, Valerio Gower, Maurizio Ferratini, Giuseppe Andreoni, Roberto Sassi, Massimo W Rivolta, Maurizio Ferrarin
BACKGROUND: The increase in life expectancy is accompanied by a growing number of elderly subjects affected by chronic comorbidities, a health issue which also implies important socioeconomic consequences. Shifting from hospital or community dwelling care towards a home personalized healthcare paradigm would promote active aging with a better quality of life, along with a reduction in healthcare-related costs. OBJECTIVE: The aim of the SMARTA project was to develop and test an innovative personal health system integrating standard sensors as well as innovative wearable and environmental sensors to allow home telemonitoring of vital parameters and detection of anomalies in daily activities, thus supporting active aging through remote healthcare...
January 19, 2017: Gerontology
https://www.readbyqxmd.com/read/28099913/zibupiyin-recipe-improves-cognitive-decline-by-regulating-gut-microbiota-in-zucker-diabetic-fatty-rats
#17
Chunyan Gu, Wen Zhou, Wang Wang, Hong Xiang, Huiying Xu, Lina Liang, Hua Sui, Libin Zhan, Xiaoguang Lu
Numerous researches supported that microbiota can influence behavior and modulate cognitive function through "microbiota-gut-brain" axis. Our previous study has demonstrated that ZiBuPiYin recipe (ZBPYR) possesses excellent pharmacological effects against diabetes-associated cognitive decline. To elucidate the role of ZBPYR in regulating the balance of gut microbiota to improve psychological-stress-induced diabetes-associated cognitive decline (PSDACD), we compared blood glucose, behavioral and cognitive functions and diversity of the bacterial community among experimental groups...
January 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099709/preliminary-study-of-the-effects-of-furosemide-on-blood-pressure-during-late-onset-pre-eclampsia-in-patients-with-high%C3%A2-cardiac-output
#18
Péter Tamás, Eszter Hantosi, Bálint Farkas, Zsolt Ifi, József Betlehem, József Bódis
OBJECTIVE: To examine the effect of furosemide on hypertension and edema in patients with pre-eclampsia experiencing high cardiac output. METHODS: The present cohort study enrolled patients with pre-eclampsia who were admitted to the pregnancy pathology unit of the Department of Obstetrics and Gynecology, University of Pécs, Hungary, between January 1 and December 31, 2015. Eligible patients had singleton pregnancies with no fetal anomalies, high blood volume, visible edema, and a hematocrit concentration below 37 L/L...
January 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28099615/do-you-know-this-syndrome-dyspigmentation-along-the-blaschko-lines-caused-by-trisomy-7-mosaicism
#19
Miguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, Renata d'Oliveira, Margarida Venâncio, Ana Moreno
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype...
November 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28099516/clinical-practice-guidelines-for-rare-diseases-the-orphanet-database
#20
Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Lanneau, Ana Rath
Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs...
2017: PloS One
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