Results 61 to 70 of about 4,104 (164)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Posttraumatic both loop ileal prolapse through patent vitello-intestinal duct in a neonate: A rare occurrence

Muller Journal of Medical Sciences and Research, 2016
Umbilical cord hernia (UCH) is consisting of 20% of all congenital abdominal wall defects. Vitello-intestinal duct (VID) is the communicating embryonic structure which disappears between the 5 th and 9 th weeks of intrauterine life.
Md Hadiuzzaman Zaman, Shibsankar Barman, Sumitra Kumar Biswas, Kalyani Saha Basu   +3 more
doaj   +1 more source

Umbilical hernia repair post umbilical cord graft closure of gastroschisis: A cohort study

International Journal of Surgery Case Reports, 2022
Gastroschisis a common congenital anomaly in the anterior abdominal wall, the bowel is present outside the abdominal cavity, completely devoid of any coverings, management of gastroschisis involves umbilical cord graft coverage of the defect after bowel reduction when there are concerns about compartmental syndrome, this is a widely used technique but ...
Taher, Heba, Khalil, Hajar, Ahmed, Saad, Gad, Mostafa, Elezaby, Belal, Magdy, Abdelazez, Abdullateef, Khaled S   +6 more
openaire   +2 more sources

Engineering Intervertebral Disc Regeneration: Biomaterials, Cell Sources and Animal Models

Cell Proliferation, EarlyView.
This review highlights the current tissue engineering approaches utilising biomaterials, animal models and cell sources for intervertebral disc regeneration and discusses future opportunities. ABSTRACT Intervertebral disc (IVD) degeneration is an age‐related problem triggering chronic spinal issues, such as low back pain and IVD herniation.
Sidong Yang, Farhad Soheilmoghaddam, Peter Pivonka, Joan Li, Samuel Rudd, Trifanny Yeo, Ji Tu, Yibo Zhu, Justin J. Cooper‐White   +8 more
wiley   +1 more source

Hernia of the umbilical cord associated with a patent omphalomesenteric duct

Journal of Postgraduate Medicine, 2017
Congenital hernia of the cord is a different type of ventral abdominal wall defect in which the bowel usually herniates into the base of normally inserted umbilical cord through a patent umbilical ring. It is rare congenital anomaly with incidence of 1 in 5000.
S Sindjic-Antunovic, M Raicevic, I Filipovic   +2 more
openaire   +3 more sources

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Vitamin D improves pulmonary function in a rat model for congenital diaphragmatic hernia [PDF]

, 2021
doctoral ...
Ito, Yumiko, 伊藤, 由美子
core   +1 more source

OUTPATIENT MANAGEMENT OF A PATIENT WITH BECKWITHWIEDEMANN SYNDROME (CASE REPORT)

Медицинский совет, 2017
Beckwith - Wiedemann syndrome (ICD-10 code: Q 87.3) is a congenital disease characterized by macrosomia, macroglossia, hernia umbilical cord, overgrowth in the first few years of life, asymmetry of the body and a predisposition to embryonal tumor ...
E. A. Kashirina, A. A. Rubtsova, N. M. Yugai, O. B. Karabanova, O. V. Chernokozheva, S. G. Zagidullina   +5 more
doaj   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Hernia of umbilical cord containing an accessory liver lobe and the gallbladder: A case report

Journal of Pediatric Surgery Case Reports, 2023
Introduction: Distinguishing an omphalocele from a hernia of the umbilical cord (HUC) can be a significant clinical challenge. Abdominal organ incarceration is an extremely uncommon complication of HUC.
Takwa Mili, Yosra Ben Ahmed, Ahmed Ben Younes, Awatef charieg, Maryem Marzouki, Intissar Chibani, Faouzi Nouira, Said Jlidi   +7 more
doaj