Results 31 to 40 of about 101,113 (293)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Cesarean section still needs attention: prevalence and causes of cesarean section in Jahrom, 2008 [PDF]

فصلنامه دانشگاه علوم پزشکی جهرم, 2011
Introduction:Cesarean section is on one side one of the essential actions taken to protect the life and health of the fetus and mother, however, it is not without complications either for the mother or the baby.
Keramatollah Rahmanian, Mitra Ghasvari, Vajiheh Rahmanian   +2 more
doaj  

"Early rupture of membranes" during induced labor as a risk factor for cesarean delivery in term nulliparas. [PDF]

PLoS ONE, 2012
OBJECTIVE: To determine if "early rupture of membranes" (early ROM) during induction of labor is associated with an increased risk of cesarean section in term nulliparas.
Seung Mi Lee, Jeong Woo Park, Chan-Wook Park, Bo Hyun Yoon   +3 more
doaj   +1 more source

Parameters in Canines After Cesarean Sections

Frontiers in Veterinary Science, 2022
This study evaluated fertility in canines after cesarean section and compared it with natural parturition. Parameters, such as the time of the next heat after the first parturition or cesarean section, the heat which was used for another breeding attempt,
Theresa Conze, Kathrin Büttner, Axel Wehrend   +2 more
doaj   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Evaluation of Ultrasonographic Anatomy of Transversus Abdominis Plane before and after Cesarean Section

Acta Clinica Croatica, 2022
Transversus abdominis plane (TAP) block is used to provide analgesia after lower abdominal surgery operations. TAP block has been shown to reduce postoperative pain scores and side effects of opioids after cesarean section.
Fatma Özdemir, Ayça Sultan Şahin, Ziya Salihoğlu   +2 more
doaj   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Repeat Cesarean Section among Pregnant Women in a Tertiary Center of Nepal: A Descriptive Cross-sectional Study

Journal of Nepal Medical Association, 2022
Introduction: Cesarean Section is the most common obstetrics surgery done for both maternal and fetal indications. There is a rising trend of cesarean section rates which is associated with increased maternal morbidities.
Dharma Raj Regmi, Ganesh Dangal, Ashmita Silwal, Dhan Bahadur Shrestha, Prakash Raj Oli, Pravash Budhathoki   +5 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

May the indication for a previous cesarean section affect the outcome at trial of labor in women with induction of labor? A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica
Introduction Cesarean sections are increasing worldwide and are associated with altered risks of complications for both mother and child. Vaginal birth after cesarean section is associated with lower maternal and neonatal morbidity than in repeat ...
Joanna Frykman, Emelie Nilsson, Eva Wiberg‐Itzel, Tove Wallstrom   +3 more
doaj   +1 more source