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https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#1
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28616410/assessing-effects-of-bl67-points-stimulation-on-fetal-heart-rate-parameters-and-fetal-movements-during-nonstress-test
#2
Masume Pirhadi, Mahboube Valiani
CONTEXT: One of the main goals of antenatal testing is to identify fetuses at the risk of neurologic injury or death so that these adverse outcomes can be prevented. We want to assess the effects of BL67 points' stimulation on fetal heart rate parameters and fetal movements during nonstress test (NST). We did a quasi-experimental design in Shahid Beheshti Hospital in Isfahan in 2011. AIMS: This study aims to assessment of the effects of BL67 points' stimulation on fetal heart rate parameters and fetal movements...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28614833/use-of-the-myocardial-performance-index-in-decreased-fetal-movement-assessment-a-case-control-study
#3
Daphne Ho, Jingjing Wang, Yvette Homann, Jennifer Alphonse, Geraldene Beirne, Alec W Welsh, Amanda Henry
OBJECTIVES: To determine whether there are any fetal cardiac function changes, as measured by the myocardial performance index (MPI), in pregnancies complicated by decreased fetal movement (DFM). METHODS: We performed a prospective cross-sectional case-control study of 50 DFM and 50 uncomplicated third-trimester pregnancies matched within 2 gestational weeks. Routine ultrasound growth and well-being parameters as well as MPI were measured. Average MPI measurements and its component values were compared between the DFM and the control group, as were demographics, other ultrasound data, and perinatal outcomes...
June 15, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28607845/interbrachial-pinch-by-trapezius-transfer-in-amyoplasia-congenita-a-case-report
#4
Alessandro Thione, Pedro C Cavadas, Alberto Perez Espadero, Carlo G Rubi
Amyoplasia congenita, or "classic distal arthrogryposis," is the most common disorder among the congenital, non-progressive, multiple joint contractural conditions named arthrogryposis. The cause remains unknown, and it occurs sporadically. Abnormal neurological examination indicates that movement in utero was diminished as a result of an abnormality of the central or peripheral nervous system, the motor end plate, or muscle. The absence of central neural pathology indicates the origin in akinetic fetal condition...
May 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28592839/inhibition-of-aurka-kinase-activity-suppresses-collective-invasion-in-a-microfluidic-cell-culture-platform
#5
Jiang-Long Xia, Wen-Jun Fan, Fei-Meng Zheng, Wen-Wen Zhang, Jia-Jun Xie, Meng-Ying Yang, Muhammad Kamran, Peng Wang, Hong-Ming Teng, Chun-Li Wang, Quentin Liu
Tumor local invasion is the first step of metastasis cascade which remains the key obstacle for cancer therapy. Collective cell migration plays a critical role in tumor invading into surrounding tissues. In vitro assays fail to assess collective invasion in a real time manner. Herein we aim to develop a three-dimensional (3D) microfluidic cell invasion model to determine the dynamic process. In this model, collective invasion of breast cancer cells is induced by the concentration gradient of fetal bovine serum...
June 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28520654/systematic-review-of-hydrotherapy-research-does-a-warm-bath-in-labor-promote-normal-physiologic-childbirth
#6
Jenna Shaw-Battista
Health sciences research was systematically reviewed to assess randomized controlled trials of standard care versus immersion hydrotherapy in labor before conventional childbirth. Seven studies of 2615 women were included. Six trials examined hydrotherapy in midwifery care and found an effect of pain relief; of these, 2 examined analgesia and found reduced use among women who bathed in labor. One study each found that hydrotherapy reduced maternal anxiety and fetal malpresentation, increased maternal satisfaction with movement and privacy, and resulted in cervical dilation progress equivalent to standard labor augmentation practices...
May 17, 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/28506686/excessively-delayed-maternal-reaction-after-their-perception-of-decreased-fetal-movements-in-stillbirths-population-based-study-in-japan
#7
Shigeki Koshida, Tetsuo Ono, Shunichiro Tsuji, Takashi Murakami, Hisatomi Arima, Kentaro Takahashi
BACKGROUND: Fetal movement is the most common method to evaluate fetal well-being. Furthermore, maternal perception of decreased fetal movements is associated with perinatal demise. Previously, we showed that perception of decreased fetal movements was the most common reason for mothers visiting the outpatient department among those who had stillbirths in our region. Further investigation of stillbirths with decreased fetal movements is essential to find a possible way of preventing stillbirth...
May 12, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/28494312/anagyrine-desensitization-of-peripheral-nicotinic-acetylcholine-receptors-a-potential-biomarker-of-quinolizidine-alkaloid-teratogenesis-in-cattle
#8
Benedict T Green, Stephen T Lee, Kevin D Welch, Daniel Cook
Anagyrine, a teratogenic quinolizidine alkaloid found in Lupinus spp., is proposed to undergo metabolism by pregnant cattle to a piperidine alkaloid which inhibits fetal movement, the putative mechanism behind crooked calf syndrome. The objective of this study was to test the hypothesis that anagyrine but not lupanine or sparteine can directly, without metabolism, desensitize nicotinic acetylcholine receptors (nAChR) in a cell culture model. SH-SY5Y cells expressing autonomic nAChR, and TE-671 cells expressing fetal muscle-type nAChR were exposed to lupine alkaloids or Dimethylphenylpiperazinium (DMPP) in log10 molar increments from 10nM to 100μM and then to a fixed concentration of acetylcholine (ACh) (10μM for SH-SY5Y cells and 1μM for TE-671 cells) and the responses measured with a membrane potential sensing dye to assess nAChR activation and desensitization...
May 2, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28469646/neural-grafting-for-parkinson-s-disease-challenges-and-prospects
#9
REVIEW
Thomas B Stoker, Nicholas F Blair, Roger A Barker
Parkinson's disease (PD) is a neurodegenerative condition which causes a characteristic movement disorder secondary to loss of dopaminergic neurons in the substanitia nigra. The motor disorder responds well to dopamine-replacement therapies, though these result in significant adverse effects due to non-physiological release of dopamine in the striatum, and off-target effects. Cell-based regenerative treatments offer a potential means for targeted replacement of dopamine, in a physiological manner. Dopaminergic neurons for cell-based therapies can be obtained from several sources...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28463844/early-delivery-of-sacrococcygeal-teratoma-with-intraspinal-extension
#10
Erin E Perrone, Marcus D Jarboe, Cormac O Maher, Deborah R Berman, Maria Ladino-Torres, Jeannie Kreutzman, Marjorie C Treadwell, George B Mychaliska
Sacrococcygeal teratoma (SCT) with intraspinal extension is rare. There is a risk of paraplegia associated with prolonged spinal cord compression. We present the case of an infant with a prenatal diagnosis of an SCT with a large intraspinal component that was causing compression of the lower spinal cord. Ultrasound at 33 weeks showed bilateral lower extremity and foot movement without hydrops or cardiac failure. Multidisciplinary decision was made to administer betamethasone and proceed with Cesarean delivery at 34 weeks...
May 3, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28391212/tracking-fetal-movement-through-source-localization-from-multisensor-magnetocardiographic-recordings
#11
Recep Avci, James Wilson, Diana Escalona-Vargas, Hari Eswaran
Due to its high spatial and temporal resolution, fetal magnetocardiography (fMCG) measurements have been used for fetal movement (FM) detection in several studies which considered the changes in the amplitude and/or morphology of measured fMCG signals. Using source localization for fMCG measurements, we propose a novel method to fit a magnetic dipole moment to fetal heart signals and investigate the positional changes of magnetic dipole in order to detect FMs. We first split each fMCG recording into 6-second time windows...
April 4, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28387916/occiput-spine-relationship-shoulders-are-more-important-than-head
#12
A Svelato, A Ragusa, P Alimondi, M Di Tommaso, R Marci, V Barbagallo, R D F Alampi, G Calagna, A Perino
OBJECTIVE: To understand the role of fetal spine position in determining a fetal head position at the time of birth and modality of delivery. PATIENTS AND METHODS: This was a multicenter prospective observational study. Fetal occiput and spine position were evaluated by intrapartum ultrasound. Eighty-six women were eligible for inclusion in the study. Occiput rotational movements and modality of delivery in relation to the fetal spine position were investigated...
March 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28370252/fetal-cardiac-cine-imaging-using-highly-accelerated-dynamic-mri-with-retrospective-motion-correction-and-outlier-rejection
#13
Joshua F P van Amerom, David F A Lloyd, Anthony N Price, Maria Kuklisova Murgasova, Paul Aljabar, Shaihan J Malik, Maelene Lohezic, Mary A Rutherford, Kuberan Pushparajah, Reza Razavi, Joseph V Hajnal
PURPOSE: Development of a MRI acquisition and reconstruction strategy to depict fetal cardiac anatomy in the presence of maternal and fetal motion. METHODS: The proposed strategy involves i) acquisition and reconstruction of highly accelerated dynamic MRI, followed by image-based ii) cardiac synchronization, iii) motion correction, iv) outlier rejection, and finally v) cardiac cine reconstruction. Postprocessing entirely was automated, aside from a user-defined region of interest delineating the fetal heart...
April 3, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28359754/-better-safe-than-sorry-reasons-for-consulting-care-due-to-decreased-fetal-movements
#14
Anders Linde, Ingela Rådestad, Karin Pettersson, Linn Hagelberg, Susanne Georgsson
BACKGROUND: Experience of reduced fetal movements is a common reason for consulting health care in late pregnancy. There is an association between reduced fetal movements and stillbirth. AIM: To explore why women decide to consult health care due to reduced fetal movements at a specific point in time and investigate reasons for delaying a consultation. METHODS: A questionnaire was distributed at all birth clinics in Stockholm during 2014, to women seeking care due to reduced fetal movements...
March 27, 2017: Women and Birth: Journal of the Australian College of Midwives
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
#15
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...
April 6, 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
#16
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
#17
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
#18
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
#19
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
#20
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
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