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https://www.readbyqxmd.com/read/28318499/loss-of-function-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita
#1
Shifeng Xue, Jérôme Maluenda, Florent Marguet, Mohammad Shboul, Loïc Quevarec, Carine Bonnard, Alvin Yu Jin Ng, Sumanty Tohari, Thong Teck Tan, Mung Kei Kong, Kristin G Monaghan, Megan T Cho, Carly E Siskind, Jacinda B Sampson, Carolina Tesi Rocha, Fawaz Alkazaleh, Marie Gonzales, Luc Rigonnot, Sandra Whalen, Marta Gut, Ivo Gut, Martine Bucourt, Byrappa Venkatesh, Annie Laquerrière, Bruno Reversade, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons...
March 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28302729/phagocytosis-dependent-ketogenesis-in-retinal-pigment-epithelium
#2
Juan Reyes-Reveles, Anuradha Dhingra, Desiree Alexander, Alvina Bragin, Nancy J Philp, Kathleen Boesze-Battaglia
Daily, the retinal pigment epithelium (RPE) ingests a bolus of lipid and protein in the form of phagocytized photoreceptor outer segments (OS). The RPE like the liver expresses enzymes required for fatty acid oxidation (FAO) and ketogenesis. This suggests that these pathways play a role in the disposal of lipids from ingested OS as well as providing a mechanism for recycling metabolic intermediates back to the outer retina. In this study, we examined whether OS phagocytosis was linked to ketogenesis. We found increased levels of β-hydroxy-butyrate (β-HB) in the apical media following ingestion of OS by human fetal RPE and ARPE19 cells cultured on transwell inserts...
March 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28300623/derivation-of-an-oral-toxicity-reference-value-for-nickel
#3
Lynne T Haber, Hudson K Bates, Bruce C Allen, Melissa J Vincent, Adriana R Oller
Nickel (Ni) is in the earth's crust and can be found in environmental compartments such as water, soil, and air, as well as food. This paper presents an assessment of the oral nickel toxicity data in support of non-cancer health-based oral exposure limits or toxicity reference values (TRVs). This paper derives TRVs for three populations of interest: adults, toddlers, and people who have been dermally sensitized to nickel. The adult/lifetime TRV of 20 μg Ni/kg-day is based on post-implantation loss/perinatal mortality in a 2-generation reproductive study in rats...
March 11, 2017: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/28298291/plasmablast-response-to-primary-rhesus-cytomegalovirus-infection-in-a-monkey-model-of-congenital-cmv-transmission
#4
Qihua Fan, Cody S Nelson, Kristy M Bialas, Flavia Chiuppesi, Joshua Amos, Thaddeus C Gurley, Dawn Jones Marshall, Joshua Eudailey, Holly Heimsath, Jonathon Himes, Ashlesha Deshpande, Mark R Walter, Felix Wussow, Don J Diamond, Peter A Barry, M Anthony Moody, Amitinder Kaur, Sallie R Permar
Human cytomegalovirus (HCMV) is the most common congenital infection worldwide, and the leading infectious cause of neurologic deficits and hearing loss in newborns. Development of a maternal HCMV vaccine to prevent vertical virus transmission is a high priority, yet protective maternal immune responses following acute infection are poorly understood. To characterize the maternal humoral immune response to primary CMV infection, we investigated the plasmablast and early antibody repertoire using a nonhuman primate model with two acutely rhesus CMV (RhCMV) infected animals - a CD4+ T cell-depleted dam that experienced fetal loss shortly after vertical RhCMV transmission and an immunocompetent dam that did not transmit RhCMV to her infant...
March 15, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/28296289/congenital-anatomical-variant-of-the-clavicle
#5
Joan Viciano, Vincenzo Urbani, Ruggero D'Anastasio
The aim of this study is to present a rare abnormality of the clavicle (Code: SGS01) that was discovered in an ossuary in the Church of San Gaetano (Sulmona, central Italy; XVII-XIX centuries CE). In the middle third, the clavicle had three areas with losses of substance in the form of oval-shaped foramina with maximum diameters of 1-2 cm that were located in the anterior and superior surfaces of the diaphysis. The margins of these foramina were well defined and rounded, and the surfaces of the canal walls were smooth...
March 15, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28295158/first-trimester-ultrasound-tests-alone-or-in-combination-with-first-trimester-serum-tests-for-down-s-syndrome-screening
#6
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28292619/obesity-and-female-infertility-potential-mediators-of-obesity-s-impact
#7
REVIEW
Darcy E Broughton, Kelle H Moley
The worldwide upward trend in obesity has been dramatic, now affecting more than 20% of American women of reproductive age. Obesity is associated with many adverse maternal and fetal effects prenatally, but it also exerts a negative influence on female fertility. Obese women are more likely to have ovulatory dysfunction due to dysregulation of the hypothalamic-pituitary-ovarian axis. Women with polycystic ovarian syndrome who are also obese demonstrate a more severe metabolic and reproductive phenotype. Obese women have reduced fecundity even when eumenorrheic and demonstrate poorer outcomes with the use of in vitro fertilization...
March 11, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28289208/specific-deletion-of-lkb1-stk11-in-the-m%C3%A3-llerian-duct-mesenchyme-drives-hyperplasia-of-the-periurethral-stroma-and-tumorigenesis-in-male-mice
#8
Jitu W George, Amanda L Patterson, Pradeep S Tanwar, André Kajdacsy-Balla, Gail S Prins, Jose M Teixeira
Nearly all older men will experience lower urinary tract symptoms associated with benign prostatic hyperplasia (BPH), the etiology of which is not well understood. We have generated Stk11(CKO) mice by conditional deletion of the liver kinase B1 (LKB1) tumor suppressor gene, Stk11 (serine threonine kinase 11), in the fetal Müllerian duct mesenchyme (MDM), the caudal remnant of which is thought to be assimilated by the urogenital sinus primordial mesenchyme in males during fetal development. We show that MDM cells contribute to the postnatal stromal cells at the dorsal aspect of the prostatic urethra by lineage tracing...
March 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28283251/diagnosis-and-treatment-of-antiphospholipid-syndrome-in-childhood-a-review
#9
Dax G Rumsey, Barry Myones, Patti Massicotte
The antiphospholipid syndrome (APS) is a multisystem autoimmune disease characterized by recurrent fetal loss and thromboembolic events associated with the presence of elevated titres of antiphospholipid antibodies (aPL). The purpose of this review is to summarize what is currently known about the diagnosis and treatment of pediatric APS, to highlight key differences between APS presenting in adults versus children throughout, and to identify areas where future research is needed.
February 28, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28281142/role-of-dna-methylation-in-imprinting-disorders-an-updated-review
#10
REVIEW
Amr Rafat Elhamamsy
Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Imprinted genes are typically arranged in clusters controlled by differentially methylated regions or imprinting control regions...
March 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28275857/influence-of-maternal-remifentanil-concentration-on-fetal-to-maternal-ratio-in-pregnant-ewes
#11
Masaki Sato, Kenichi Masui, Borjigin Sarentonglaga, Mio Yamaguchi, Rika Fukumori, Yoshikazu Nagao, Haruhiko Sago, Hiroyuki Sumikura
PURPOSE: Maternal remifentanil infusion is used for minimally invasive fetal surgery or ex-utero intrapartum treatment. The fetal-to-maternal (F/M) ratio of remifentanil concentration at various dosing regimens is useful to manage remifentanil effects. The aim of this study was to investigate the F/M ratio of remifentanil at various concentrations. METHODS: Five pregnant ewes received continuous remifentanil infusion under propofol anesthesia. The remifentanil infusion rate was increased by 0...
March 8, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28273228/determinants-of-infant-mortality-in-the-jequitinhonha-valley-and-in-the-north-and-northeast-regions-of-brazil
#12
Maria do Carmo Leal, Sonia Duarte de Azevedo Bittencourt, Raquel Maria Cardoso Torres, Roberta Pereira Niquini, Paulo Roberto Borges de Souza
OBJECTIVE: This study aims to identify the social and demographic determinants, in addition to the determinants of reproductive health and use of health services, associated with infant mortality in small and medium-sized cities of the North, Northeast and Southeast regions of Brazil. METHODS: This is a case-control study with 803 cases of death of children under one year and 1,969 live births (controls), whose mothers lived in the selected cities in 2008. The lists of the names of cases and controls were extracted from the Sistema de Informação sobre Mortalidade (SIM - Mortality Information System) and the Sistema de Informação sobre Nascidos Vivos (SINASC - Live Birth Information System) and supplemented by data obtained by the research of "active search of death and birth"...
March 2, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28269185/ultrasound-transducer-positioning-aid-for-fetal-heart-rate-monitoring
#13
Paul Hamelmann, Alex Kolen, Lars Schmitt, Rik Vullings, Hans van Assen, Massimo Mischi, Libertario Demi, Judith van Laar, Jan Bergmans
Fetal heart rate (fHR) monitoring is usually performed by Doppler ultrasound (US) techniques. For reliable fHR measurements it is required that the fetal heart is located within the US beam. In clinical practice, clinicians palpate the maternal abdomen to identify the fetal presentation and then the US transducer is fixated on the maternal abdomen where the best fHR signal can be obtained. Finding the optimal transducer position is done by listening to the strength of the Doppler audio output and relying on a signal quality indicator of the cardiotocographic (CTG) measurement system...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28265118/risk-alleles-of-genes-with-monoallelic-expression-are-enriched-in-gain-of-function-variants-and-depleted-in-loss-of-function-variants-for-neurodevelopmental-disorders
#14
V Savova, S Vinogradova, D Pruss, A A Gimelbrant, L A Weiss
Over 3000 human genes can be expressed from a single allele in one cell, and from the other allele-or both-in neighboring cells. Little is known about the consequences of this epigenetic phenomenon, monoallelic expression (MAE). We hypothesized that MAE increases expression variability, with a potential impact on human disease. Here, we use a chromatin signature to infer MAE for genes in lymphoblastoid cell lines and human fetal brain tissue. We confirm that across clones MAE status correlates with expression level, and that in human tissue data sets, MAE genes show increased expression variability...
March 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28264970/cutting-edge-fetal-placental-type-i-ifn-can-affect-maternal-survival-and-fetal-viral-load-during-viral-infection
#15
Karen Racicot, Paulomi Aldo, Ayman El-Guindy, Ja-Young Kwon, Roberto Romero, Gil Mor
Pregnant women have greater mortality and complications associated with viral infections compared with the general population, but the reason for the increased susceptibility is not well defined. Placenta type I IFN is an important immune modulator and protects the pregnancy. We hypothesized that loss of placental IFN affects the regulation of the maternal immune system, resulting in the differential response to infections observed in pregnancy. Pregnant mice lacking the IFN-α/β receptor (IFNAR) became viremic and had higher mortality compared with nonpregnant animals...
March 6, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28264611/prevalence-and-diagnostic-accuracy-of-doppler-ultrasound-of-placenta-accreta-in-egypt
#16
Ahmed M Maged, Emad Salah, Hany Saad, Hadeer Meshaal, Ashraf Eldaly, Maha A Katta, Wesam S Deeb
OBJECTIVE: To assess the prevalence of placenta accreta among those with placenta implanted over CS scar and to evaluate the accuracy of Doppler ultrasound in diagnosis. METHODS: A cross sectional study included 100 patients with placenta previa anterior with at least one previous CS. Ultrasound and color Doppler was done to all participants and correlated with operative findings. RESULTS: There was a significant difference between accrete and non accrete group regarding maternal age (32...
March 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28262233/antiphospholipid-syndrome
#17
Ricard Cervera
The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity...
March 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28262232/anticoagulants-to-prevent-recurrent-placenta-mediated-pregnancy-complications-is-it-time-to-put-the-needles-away
#18
Leslie Skeith, Marc Rodger
Placenta-mediated pregnancy complications, such as pre-eclampsia, placental abruption, birth of a small-for-gestational age infant and late pregnancy loss, are common and carry significant morbidity and mortality. The etiology of placenta-mediated pregnancy complications is likely multifactorial and may include abnormal coagulation activation of the maternal-fetal interface. The use of antepartum low-molecular-weight heparin (LMWH) prophylaxis to prevent recurrent placenta-mediated pregnancy complications has become common practice despite limited and conflicting evidence to support its use...
March 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28258975/animatio-a-history-of-ideas-on-the-beginning-of-personhood
#19
Michael Obladen
The onset of individual human life has fascinated thinkers of all cultures and epochs, and the history of their ideas may enlighten an unsettled debate. Aristotle attributed three different souls to the subsequent developmental stages. The last, the rational soul, was associated with the formed fetus, and entailed fetal movements. With some modifications, the concept of delayed ensoulment - at 30, 42, 60, or 90 days after conception - was adopted by several Christian Church Fathers and remained valid throughout the Middle Ages...
March 4, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28258943/anaesthesia-for-abnormally-invasive-placenta-a-single-institution-case-series
#20
N J Taylor, R Russell
BACKGROUND: Abnormally invasive placenta describes a spectrum of disorders resulting in pathological placental implantation. It is associated with the potential for severe maternal haemorrhage and poor fetal outcome. Increasing numbers of women are at risk owing to the rising incidence of uterine surgery and increasing maternal age. We report data over a five-year period describing anaesthetic management of cases of abnormally invasive placenta in a UK tertiary-referral maternity unit and assess how management has developed...
January 23, 2017: International Journal of Obstetric Anesthesia
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