Results 31 to 40 of about 138,051 (293)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Hubungan Antara Asupan Vitamin C Dan Zinc Dengan Proses Penyembuhan Luka Pasien Pasca Caesarean Section Di Instalasi Rawat Jalan Di Rumah Sakit PKU Muhammadiyah Surakarta [PDF]

, 2016
Introduction: Vitamin C and zinc have roles in improving immune system of post caersarean section, helping patients the proses of collagen synthesis in injury healing process, and the formation of the immune system in the body, so the risk of getting ...
Sumanto, Joko
core  

Perimortem Caesarean Section

Nigerian Journal of Medicine, 2022
Maternal cardiopulmonary arrest is a very rare event whose prognosis might depend on the response to the event. We present the case of an unbooked G5P4 who had an arrest following two eclamptic fits. She had an on-site perimortem cesarean section and was delivered of a live female baby with a birth weight of 4.95 kg. She was subsequently transferred to
Olufemi Augustine Solaja, Akintunde Olusegun Fehintola, Adedapo Omowonuola Adetoye   +2 more
openaire   +3 more sources

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Improving the organisation of maternal health service delivery and optimising childbirth by increasing vaginal birth after caesarean section through enhanced women-centred care (OptiBIRTH trial): study protocol for a randomised controlled trial (ISRCTN10612254) [PDF]

, 2015
Open Access JournalBackground The proportion of pregnant women who have a caesarean section shows a wide variation across Europe, and concern exists that these proportions are increasing. Much of the increase in caesarean sections in recent years is due
Begley, Cecily, Clarke, Mike, Daly, Deirdre, Devane, Declan, Gross, Mechthild M, Grylka-Baeschlin, Susanne, Healy, Patricia, Morano, Sandra, Nicoletti, Jane, Savage, Gerard, Smith, Valerie   +10 more
core   +3 more sources

Caesarean Section — Overdone [PDF]

The Boston Medical and Surgical Journal, 1916
n ...
openaire   +2 more sources

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Reducing the rate of primary caesarean sections--an audit [PDF]

, 2008
Objective: To evaluate how the implementation of universally acceptable standards affects rates for primary caesarean sections, without compromising maternal or foetal safety. Method: A complete audit cycle of all the primary caesarean sections performed
Bhurgri, Hadi, Gowani, Saqib Ali, Kagazwala, S, Rizvi, Javed, Sheikh, Lumaan, Tehseen, Sara   +5 more
core   +1 more source

The Relationship Antenatal Care Visits with Caesarean Section Delivery in Indonesia (Analysis Data Idhs 2012) [PDF]

, 2016
Background: The increased rates of caesarean section become public health problem because it can enhance on risk of maternal and perinatal adverse effects.
Fajar, N. A. (Nur), Febryanti, R. F. (Ririn), Sari, I. P. (Indah)   +2 more
core   +1 more source