Results 71 to 80 of about 21,823 (194)

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Beyond the yellow: Predictors of mother's knowledge and attitude toward neonatal jaundice

Clinical Epidemiology and Global Health
Problem considered: Neonatal jaundice is a common condition among newborns that contributes significantly to global neonatal mortality and morbidity. In Jordan, there is a scarcity of published evidence on maternal knowledge and attitudes toward neonatal
Eman F. Badran, Dima Abu Nasrieh, Rami Masa'deh, Haneen A. Banihani, Yazan Ahmad Dabbah, Mohammad Al-Soudi, Hala Jaberi, Mohammad Tarek Al-Sanouri, Jehad Makhshoum   +8 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One‐Year Follow‐Up on Lipid Profile and Growth Development

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease caused by a biallelic loss‐of‐function mutation in the lipoprotein lipase (LPL) gene or its cofactors. This case report describes the diagnosis, management, and one‐year follow‐up of an infant with FCS.
Jinyi Liu, Xuanyu Meng, Yi Wu, Guosheng Huang, Shuheng Liang   +4 more
wiley   +1 more source

Peritoneal Tuberculosis Presenting as Massive Ascites in Pregnancy: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Abdominal tuberculosis, especially peritoneal tuberculosis, is uncommon in pregnancy. The diagnosis during pregnancy is a challenge due to many signs and symptoms being nonspecific and mimicking the symptoms of pregnancy. The presence of ascites, with anorexia and weight loss in pregnancy from endemic regions, should be addressed with ...
S. Gyamtsho, S. Dechen, S. Choden
wiley   +1 more source

Outcomes for Women With Diabetes at Late Preterm Gestation Who Received Antenatal Corticosteroids: A Population‐Based Cohort Study

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 4, August 2026.
ABSTRACT Background The use of antenatal corticosteroids appears to be increasing despite limited and conflicting evidence about its efficacy among women with diabetes in pregnancy. Aim To separately assess the effects of maternal diabetes and the effects of antenatal corticosteroid administration prior to late preterm birth on adverse maternal and ...
Ibinabo Ibiebele, Kata Kraljevic, Sarah Glastras, Tessa Weir, Deborah Randall, Tanya Nippita   +5 more
wiley   +1 more source

Can universal cervical length screening with vaginal progesterone for a short cervix reduce preterm birth? A systematic review and meta‐analyses

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 8, Page 1420-1434, August 2026.
Preterm birth is associated with substantial neonatal morbidity and mortality. We evaluated whether universal cervical length screening with ultrasound, followed by progesterone therapy for women with a short cervix, has the potential to reduce the incidence of preterm birth.
Mira Zethelius, Lina Bergman, Ann‐Catrin Ekelund, Cecilie Hongslo Vala, Bo Jacobsson, Pihla Kuusela, Ann Liljegren, Björn Lindkvist, Max Petzold, Petteri Sjögren, Ulla‐Britt Wennerholm, Tove Wikström   +11 more
wiley   +1 more source

Magnitude and its associated factors of neonatal jaundice among neonates admitted to the neonatal intensive care unit of Dessie Town public hospitals, Amhara region, Ethiopia, 2020: a multicenter cross-sectional study

Frontiers in Pediatrics
BackgroundNeonatal jaundice is a prevalent illness affecting approximately 60%–80% of newborns. In severe cases, it can result in severe neurological distress.
Mohammed Tessema, Hussen Mekonnen, Tsion Alemu, Yohannes Godie, Wegayehu Zeneb Teklehaimanot, Leweyehu Alemaw Mengstie   +5 more
doaj   +1 more source

Meta‐Analysis: Redefining Liver Disease Risk in Heterozygous Alpha‐1 Antitrypsin Deficiency

Alimentary Pharmacology &Therapeutics, Volume 64, Issue 4, Page 430-440, August 2026.
SERPINA1 MZ/SZ genotypes is a common but under‐recognised liver risk state. Despite modest shifts in liver function tests, it is associated with approximately doubled odds of fibrosis, cirrhosis, and liver transplantation, supporting its inclusion in chronic liver disease risk assessment.
Adam M. Syanda, Dimitra Georgantaki, Riona T. T. Linn, Amara Agbai, Hassan Tahir, Manako Sakai, Richard Thompson, Mariam Molokhia, S. Tamir Rashid   +8 more
wiley   +1 more source

Neonatal jaundice and its association with sepsis, birth trauma, and prolonged labor in Ethiopia: A systematic review and meta-analysis

International Journal of Africa Nursing Sciences
Background: No comprehensive nationwide evidence exists regarding neonatal jaundice in Ethiopia. Hence, this study aimed to determine the pooled prevalence of neonatal jaundice and explore its relationship with sepsis, birth trauma, and prolonged labor ...
Bezawit Adane, Melaku Yalew, Elsabeth Addisu, Mastewal Arefaynie, Kefale Mitiku, Yitbarek Wasihun, Tilahun Degu Tsega, Mahider Awoke, Tezera Asfaw, Bereket Kefale, Yitayish Damtie, Natnael Kebede   +11 more
doaj   +1 more source