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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/28318025/maternal-chronic-hypoxia-increases-expression-of-genes-regulating-lung-liquid-movement-and-surfactant-maturation-in-male-fetuses-in-late-gestation
#2
Erin V McGillick, Sandra Orgeig, Beth J Allison, Kirsty L Brain, Youguo Niu, Nozomi Itani, Katie L Skeffington, Andrew D Kane, Emilio A Herrera, Dino A Giussani, Janna L Morrison
Chronic fetal hypoxaemia is a common pregnancy complication that may arise from maternal, placental and/or fetal factors. Respiratory outcome of the infant at birth likely depends on the duration, timing and severity of the hypoxaemic insult. We have isolated the effect of maternal chronic hypoxia (MCH) for a month in late gestation on fetal lung development. Pregnant ewes were exposed to normoxia (21% O2 ) or hypoxia (10% O2 ) from 105-138 d gestation (term ∼145 d). At 138 d, gene expression in fetal lung tissue was determined by qRT-PCR...
March 20, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28316282/motion-compensated-cine-cmr-of-the-fetal-heart-using-radial-undersampling-and-compressed-sensing
#3
Christopher W Roy, Mike Seed, John C Kingdom, Christopher K Macgowan
BACKGROUND: To develop and evaluate a reconstruction framework for high resolution time-resolved CMR of the fetal heart in the presence of motion. METHODS: Data were acquired using a golden angle radial trajectory in seven fetal subjects and reconstructed as real-time images to detect fetal movement. Data acquired during through-plane motion were discarded whereas in-plane motion was corrected. A fetal cardiac gating signal was extracted to sort the corrected data by cardiac phase, allowing reconstruction of cine images...
March 20, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#4
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28306540/4d-assessment-of-fetal-brain-function-in-diabetic-patients
#5
Panagiotis Antsaklis, Selma Porovic, George Daskalakis, Asim Kurjak
OBJECTIVE: To assess whether there is a difference in the behavior of fetuses of pregnant women with diabetes under treatment with insulin, compared to fetuses of pregnant women without diabetes. MATERIALS AND METHODS: Kurjak's antenatal neurodevelopmental test (KANET) - a method that, by application of four-dimensional (4D) ultrasound, assesses fetal behavior in a similar way that neonatologists perform a neurological assessment in newborns - was applied from 28 to 38 weeks of gestation to 40 pregnancies with pre-existing diabetes mellitus or gestational diabetes mellitus (GDM) requiring insulin (diabetic group) and to 40 non-diabetic cases, with otherwise low-risk pregnancies (non-diabetic group)...
March 17, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28297183/ontogeny-of-the-human-pelvis
#6
Stefaan W Verbruggen, Niamh C Nowlan
The human pelvis has evolved over time into a remarkable structure, optimised into an intricate architecture that transfers the entire load of the upper body into the lower limbs, while also facilitating bipedal movement. The pelvic girdle is composed of two hip bones, os coxae, themselves each formed from the gradual fusion of the ischium, ilium and pubis bones. Unlike the development of the classical long bones, a complex timeline of events must occur in order for the pelvis to arise from the embryonic limb buds...
April 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28283176/usefulness-of-the-prenatal-echocardiogram-in-fetuses-with-isolated-transposition-of-the-great-arteries-to-predict-the-need-for-balloon-atrial-septostomy
#7
Trisha V Vigneswaran, Vita Zidere, Owen I Miller, John M Simpson, Gurleen K Sharland
The outcome of the arterial switch operation for transposition of the great arteries (TGA) is excellent, but there is still associated preoperative mortality. Hypoxemia due to inadequate mixing of the pulmonary and systemic circulations may be implicated. Prediction of early hypoxemia by prenatal echocardiographic criteria has proved difficult. We aimed to identify prenatal echocardiographic features that may predict the need for emergency balloon atrial septostomy (BAS) in isolated TGA. Third trimester fetal echocardiograms of the last 40 cases of isolated TGA were reviewed without knowledge of the postnatal outcome...
February 9, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#8
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28269461/detection-of-fetal-kicks-using-body-worn-accelerometers-during-pregnancy-trade-offs-between-sensors-number-and-positioning
#9
Marco Altini, Patrick Mullan, Michiel Rooijakkers, Stefan Gradl, Julien Penders, Nele Geusens, Lars Grieten, Bjoern Eskofier
Monitoring fetal wellbeing is key in modern obstetrics. While fetal movement is routinely used as a proxy to fetal wellbeing, accurate, noninvasive, long-term monitoring of fetal movement is challenging. A few accelerometer-based systems have been developed in the past few years, to tackle common issues in ultrasound measurement and enable remote, self-administrated monitoring of fetal movement during pregnancy. However, many questions remain unanswered to date on the optimal setup in terms of body-worn accelerometers as well as signal processing and machine learning techniques used to detect fetal movement...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28258975/animatio-a-history-of-ideas-on-the-beginning-of-personhood
#10
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/28252405/placenta-maps-in-utero-placental-health-assessment-of-the-human-fetus
#11
Haichao Miao, Gabriel Mistelbauer, Alexey Karimov, Amir Alansary, Alice Davidson, David Lloyd, Mellisa Damodaram, Lisa Story, Jana Hutter, Joseph Hajnal, Mary Rutherford, Bernhard Preim, Bernhard Kainz, M Eduard Groller
The human placenta is essential for the supply of the fetus. To monitor the fetal development, imaging data is acquired using ultrasound (US). Although it is currently the gold-standard in fetal imaging, it might not capture certain abnormalities of the placenta. Magnetic resonance imaging (MRI) is a safe alternative for the in utero examination while acquiring the fetus data in higher detail. Nevertheless, there is currently no established procedure for assessing the condition of the placenta and consequently the fetal health...
February 24, 2017: IEEE Transactions on Visualization and Computer Graphics
https://www.readbyqxmd.com/read/28247781/midwife-s-decisive-action-saved-my-baby-s-life
#12
(no author information available yet)
When I was 38 weeks pregnant, I went to the labour ward of Harrogate District Hospital to get a cardiotocography (CTG) trace, after becoming concerned by reduced fetal movements.
March 1, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28227711/detection-of-fetal-kicks-using-body-worn-accelerometers-during-pregnancy-trade-offs-between-sensors-number-and-positioning
#13
Marco Altini, Patrick Mullan, Michiel Rooijakkers, Stefan Gradl, Julien Penders, Nele Geusens, Lars Grieten, Bjoern Eskofier, Marco Altini, Patrick Mullan, Michiel Rooijakkers, Stefan Gradl, Julien Penders, Nele Geusens, Lars Grieten, Bjoern Eskofier, Julien Penders, Michiel Rooijakkers, Nele Geusens, Stefan Gradl, Patrick Mullan, Lars Grieten, Bjoern Eskofier, Marco Altini
Monitoring fetal wellbeing is key in modern obstetrics. While fetal movement is routinely used as a proxy to fetal wellbeing, accurate, noninvasive, long-term monitoring of fetal movement is challenging. A few accelerometer-based systems have been developed in the past few years, to tackle common issues in ultrasound measurement and enable remote, self-administrated monitoring of fetal movement during pregnancy. However, many questions remain unanswered to date on the optimal setup in terms of body-worn accelerometers as well as signal processing and machine learning techniques used to detect fetal movement...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28213879/arthrogryposis-multiplex-congenita-classification-diagnosis-perioperative-care-and-anesthesia
#14
REVIEW
Lulu Ma, Xuerong Yu
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients...
February 17, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28188773/maternal-buprenorphine-treatment-and-fetal-neurobehavioral-development
#15
Lauren M Jansson, Martha Velez, Krystle McConnell, Nancy Spencer, Michelle Tuten, Hendree E Jones, Van L King, Neeraj Gandotra, Lorraine A Milio, Kristin Voegtline, Janet A DiPietro
BACKGROUND: Gestational opioid use/misuse is escalating in the United States; however, little is understood about the fetal effects of medications used to treat maternal opioid use disorders. OBJECTIVE: The purpose of this study was to determine the effect of maternal buprenorphine administration on longitudinal fetal neurobehavioral development. STUDY DESIGN: Forty-nine buprenorphine-maintained women who attended a substance use disorder treatment facility with generally uncomplicated pregnancies underwent fetal monitoring for 60 minutes at times of trough and peak maternal buprenorphine levels...
February 7, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28183709/consequences-of-delivery-at-home-in-a-woman-without-prenatal-care
#16
Nakul Kumar, Lisa Gilbert, Terry Ellis, Sandeep Krishnan
This is a case report of a 39-year-old multigravida woman without allopathic prenatal care who, after three previous caesarean sections, attempted to deliver her fourth child at home with the help of a direct entry midwife. During labour, fetal movement and fetal heart tones became undetectable, at which time the patient was referred by the midwife to the hospital. The patient was diagnosed with uterine rupture, bladder rupture and fetal demise; she was rushed to emergency surgery. The patient's lack of allopathic prenatal care, attempt of vaginal birth after three previous caesarean sections, coupled with her desire for delivery at home, led to her complicated course...
February 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28182292/metastatic-neuroblastoma-diagnosed-on-prenatal-sonographic-examination-performed-for-decreased-fetal-movement
#17
Hector O Chapa, Steven Gywnn Geddie, Rebecca Flores
We report a case of fetal neuroblastoma presenting with massive liver metastasis diagnosed during the biophysical profile sonographic examination performed for decreased fetal movement. The patient presented at 37 weeks' gestation with limited fetal movement over 24 hours. Biophysical profile showed marked polyhydramnios and an enlarged abdomen filled with a homogeneous mass lesion suspicious for liver metastasis. Primary urgent cesarean section was performed revealing a cachectic neonate with a rigid and grossly distended abdomen...
February 9, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28182029/very-severe-spinal-muscular-atrophy-type-0
#18
Suleiman Al Dakhoul
This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.
January 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/28162972/novel-strategies-to-prevent-stillbirth
#19
REVIEW
Jane Warland, Edwin A Mitchell, Louise M O'Brien
This article reviews three new and emerging risk factors for stillbirth that may be modifiable or might identify a compromised fetus. We focus on fetal movements, maternal sleep, and maternal diet. Recent studies have suggested than a sudden increase in vigorous fetal activity may be associated with increased risk of stillbirth. We review the papers that have reported this finding and discuss the implications as well as potential future directions for research. There is emerging literature to suggest that maternal sleep position may be a risk for stillbirth, especially if the woman settles to sleep supine...
February 2, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28145864/epigenetic-regulation-of-lateralized-fetal-spinal-gene-expression-underlies-hemispheric-asymmetries
#20
Sebastian Ocklenburg, Judith Schmitz, Zahra Moinfar, Dirk Moser, Rena Klose, Stephanie Lor, Georg Kunz, Martin Tegenthoff, Pedro Faustmann, Clyde Francks, Jörg T Epplen, Robert Kumsta, Onur Güntürkün
Lateralization is a fundamental principle of nervous system organization but its molecular determinants are mostly unknown. In humans, asymmetric gene expression in the fetal cortex has been suggested as the molecular basis of handedness. However, human fetuses already show considerable asymmetries in arm movements before the motor cortex is functionally linked to the spinal cord, making it more likely that spinal gene expression asymmetries form the molecular basis of handedness. We analyzed genome-wide mRNA expression and DNA methylation in cervical and anterior thoracal spinal cord segments of five human fetuses and show development-dependent gene expression asymmetries...
February 1, 2017: ELife
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