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https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#1
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28810692/resveratrol-protects-from-lipopolysaccharide-induced-inflammation-in-the-uterus-and-prevents-experimental-preterm-birth
#2
María Victoria Bariani, Fernando Correa, Emma Leishman, Ana Paula Domínguez Rubio, Andreína Arias, Aníbal Stern, Heather B Bradshaw, Ana María Franchi
STUDY QUESTION: Is resveratrol able to prevent the lipopolysaccharide (LPS)-induced preterm labor in 15-day pregnant BALB/c mice? SUMMARY ANSWER: Resveratrol prevented the LPS-induced onset of preterm labor in 64% of the cases and showed anti-inflammatory and tocolytic effects by downregulating COX-2 and iNOS expression and NOS activity, and by changing the uterine prostaglandin and endocannabinoid profiling. WHAT IS KNOWN ALREADY: Genital tract infections by Gram-negative bacteria are a common complication in human pregnancy and have been shown to increase risk of preterm delivery...
August 1, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28801392/can-promoting-awareness-of-fetal-movements-and-focusing-interventions-reduce-fetal-mortality-a-stepped-wedge-cluster-randomised-trial-affirm
#3
Alexander E P Heazell, Christopher J Weir, Sarah J E Stock, Catherine J Calderwood, Sarah Cunningham Burley, J Frederik Froen, Michael Geary, Alyson Hunter, Fionnuala M McAuliffe, Edile Murdoch, Aryelly Rodriguez, Mary Ross-Davie, Janet Scott, Sonia Whyte, Jane E Norman
BACKGROUND: In 2013, the stillbirth rate in the UK was 4.2 per 1000 live births, ranking 24th out of 49 high-income countries, with an annual rate of reduction of only 1.4% per year. The majority of stillbirths occur in normally formed infants, with (retrospective) evidence of placental insufficiency the most common clinical finding. Maternal perception of reduced fetal movements (RFM) is associated with placental insufficiency and increased risk of subsequent stillbirth.This study will test the hypothesis that the introduction of a package of care to increase women's awareness of the need for prompt reporting of RFM and standardised management to identify fetal compromise with timely delivery in confirmed cases, will reduce the rate of stillbirth...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#4
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28782146/cerebroplacental-ratio-in-reduced-fetal-movements-evidence-for-worsening-fetal-hypoxemia
#5
Julia Binder, Caitriona Monaghan, Baskaran Thilaganathan, José Morales-Roselló, Asma Khalil
OBJECTIVE: To investigate the fetal cerebroplacental ratio (CPR) in women presenting with reduced fetal movements (RFM). METHODS: This is a retrospective cohort study conducted over a 7-year period at a Fetal Medicine Unit at a tertiary referral centre. 4500 singleton pregnancies presenting with RFM after 36 weeks' gestation and 1527 control pregnancies at a similar gestation without RFM were analysed. Fetal biometry and Doppler parameters were recorded and converted into centiles and multiples of the median (MoM)...
August 7, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28760579/survival-of-ipsc-derived-grafts-within-the-striatum-of-immunodeficient-mice-importance-of-developmental-stage-of-both-transplant-and-host-recipient
#6
Colton M Tom, Shahab Younesi, Elana Meer, Catherine Bresee, Marlesa Godoy, Virginia B Mattis
Degeneration of the striatum can occur in multiple disorders with devastating consequences for the patients. Infantile infections with streptococcus, measles, or herpes can cause striatal necrosis associated with dystonia or dyskinesia; and in patients with Huntington's disease the striatum undergoes massive degeneration leading to behavioral, psychological and movement issues, ultimately resulting in death. Currently, only supportive therapies are available for striatal degeneration. Clinical trials have shown some efficacy using transplantation of fetal-derived primary striatal progenitors...
July 28, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#7
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28749055/a-failure-to-be-candid
#8
Jennifer McGuirl
I was a second-year neonatal-perinatal fellow in a meeting between other members of the neonatal intensive care team and parents who had just received devastating news about their planned-for and highly desired baby, born after what had been an uncomplicated pregnancy. At home, a little sister was waiting to meet her new brother. These conversations are never easy, but this one I found particularly disturbing. John had been born at term via emergency cesarean section after his mother, Muriel, had come for a routine obstetrical visit and reported decreased fetal movement...
July 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28721492/peristaltic-like-motion-of-the-human-fetal-right-ventricle-and-its-effects-on-fluid-dynamics-and-energy-dynamics
#9
Hadi Wiputra, Guat Ling Lim, Khong Chun Chua, R Nivetha, Sanah Merchant Soomar, Arijit Biwas, Citra Nurfarah Zaini Mattar, Hwa Liang Leo, Choon Hwai Yap
In both adult human and canine, the cardiac right ventricle (RV) is known to exhibit a peristaltic-like motion, where RV sinus (inflow region) contracts first and the infundibulum (outflow region) later, in a wave-like contraction motion. The delay in contraction between the sinus and infundibulum averaged at 15% of the cardiac cycle and was estimated to produce an intra-ventricular pressure difference of 15 mmHg. However, whether such a contractile motion occurs in human fetuses as well, its effects on hemodynamics remains unknown, and are the subject of the current study...
July 18, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28709949/pulmonary-hypoplasia
#10
REVIEW
C Michael Cotten
To survive the transition to extrauterine life, newborn infants must have lungs that provide an adequate surface area and volume to allow for gas exchange. The dynamic activities of fetal breathing movements and accumulation of lung luminal fluid are key to fetal lung development throughout the various phases of lung development and growth, first by branching morphogenesis, and later by septation. Because effective gas exchange is essential to survival, pulmonary hypoplasia is among the leading findings on autopsies of children dying in the newborn period...
July 11, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28708574/4d-ultrasound-study-of-fetal-movement-early-in-the-second-trimester-of-pregnancy
#11
Suraphan Sajapala, Mohamed Ahmed Mostafa AboEllail, Kenji Kanenishi, Nobuhiro Mori, Genzo Marumo, Toshiyuki Hata
AIM: To assess the frequency of fetal movement and reproducibility of fetal movement counting in normal singleton pregnancies early in the second trimester using four-dimensional (4D) ultrasound. METHODS: Twenty-nine singleton pregnancies were studied for 15 min employing 4D ultrasound at 14-16 (19 cases) and 17-19 (10 cases) weeks of gestation. The frequencies of eight fetal movements (head anteflexion, head retroflexion, body rotation, hand to face movement, general movement, isolated arm movement, isolated leg movement and mouthing movement) were evaluated...
August 28, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28700709/eye-movement-activity-in-normal-human-fetuses-between-24-and-39-weeks-of-gestation
#12
Hikohiro Okawa, Seiichi Morokuma, Kana Maehara, Akiko Arata, Yoshiyuki Ohmura, Takashi Horinouchi, Yukuo Konishi, Kiyoko Kato
Rapid eye movement (REM) sleep occurs throughout a relatively large proportion of early development, and normal REM activity appears to be required for healthy brain development. The eye movements (EMs) observed during REM sleep are the most distinctive characteristics of this state. EMs are used as an index of neurological function postnatally, but no specific indices of EM activity exist for fetuses. We aimed to identify and characterize EM activity, particularly EM bursts suggestive of REM periods, in fetuses with a gestational age between 24 and 39 weeks...
2017: PloS One
https://www.readbyqxmd.com/read/28681500/continuous-support-for-women-during-childbirth
#13
REVIEW
Meghan A Bohren, G Justus Hofmeyr, Carol Sakala, Rieko K Fukuzawa, Anna Cuthbert
BACKGROUND: Historically, women have generally been attended and supported by other women during labour. However, in hospitals worldwide, continuous support during labour has often become the exception rather than the routine. OBJECTIVES: The primary objective was to assess the effects, on women and their babies, of continuous, one-to-one intrapartum support compared with usual care, in any setting. Secondary objectives were to determine whether the effects of continuous support are influenced by:1...
July 6, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28666504/pregnancy-in-a-treated-case-of-ectopia-vesicae
#14
Fazeela Shahzad, Shazia Khalid Khan, Madiha Siraj
The patient was born with bladder exstrophy and underwent multiple surgeries for its correction. Finally, she had ureterosigmoidostomy at the age of 9 years, which ultimately led her to live till reproductive age. The children born with this defect are capable of surviving till adult life. She was received by us with preterm labour, referred from Hafizabad. She also had hyperchloremic metabolic acidosis and mild hydronephrosis. She was managed with multidisciplinary, modified care but the pregnancy ended up in an emergency cesarean section due to non-reactive cardiotocograph and persistently reduced fetal movements...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28657126/a-homozygous-i684t-in-gle1-as-a-novel-cause-of-arthrogryposis-and-motor-neuron-loss
#15
Teija Paakkola, Katri Vuopala, Hannaleena Kokkonen, Jaakko Ignatius, Marita Valkama, Jukka S Moilanen, Somayyeh Fahiminiya, Jacek Majewski, Reetta Hinttala, Johanna Uusimaa
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as Lethal congenital contracture syndrome 1 (LCCS1) and Lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound FinMajor mutation together with p.R569H, p...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#16
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...
September 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
#17
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
#18
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
#19
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
#20
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
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