Results 41 to 50 of about 62,571 (247)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Laparoscopic identification of a direct inguinal hernia with bladder involvement in an infant

Journal of Pediatric Surgery Case Reports, 2023
Inguinal hernias are a common problem in premature infants, with incidence increasing as the gestational age decreases. Direct inguinal hernias are rare in infants with minimal documentation in the medical literature.
Juhye Kang, Nicole J. Kus, James T. Moore, Eric D. Strauch, Brian R. Englum   +4 more
doaj   +1 more source

Histological findings in direct inguinal hernia : Investigating the histological changes of the herniated groin looking forward to ascertain the pathogenesis of hernia disease. [PDF]

, 2013
BACKGROUND: The study is focused on recognizing the histological changes of the structures close to and around the hernia opening in patients having direct inguinal hernia.
AGRUSA, Antonino, AMATO, Giuseppe, COCORULLO, Gianfranco, GULOTTA, Gaspare, MARASA', Salvatore, MULARO, Salvatore, ROMANO, Giorgio, SALAMONE, Giuseppe   +7 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Emergency repair of inguinal hernia in the premature infant is associated with high direct medical costs [PDF]

, 2015
_Purpose:_ Inguinal hernia repair is frequently performed in premature infants. Evidence on optimal management and timing of repair, as well as related medical costs is still lacking.
Goede, B. (Barry) de, Jeekel, J. (Hans), Kazemier, G. (Geert), Kempen, B.J.H. (Bob) van, Lange, J.F. (Johan), Langeveld-Benders, H.R. (Hester), Poley, M.J. (Marten), Verhelst, J. (Joost), Wijnen, R.M.H. (René)   +8 more
core   +3 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Study of feasibility of laparoscopic inguinal hernia surgery in taiping hospital [PDF]

, 2010
The history of inguinal hernia repair (IHR) has gone through many stages of development from the ancient era until today. Inguinal hernia repair is one of the commonest surgical procedure worldwide, irrespective of socioeconomic status or country. Today,
Abu Hassan, Hasslinda
core  

Patient awareness and symptoms from an incisional hernia [PDF]

, 2014
Incisional hernia is a common postoperative complication following open abdominal surgery with incidence varying between 3% and 20%.1 Approximately half of all incisional hernias are diagnosed within 1 year following surgery. In the United Kingdom alone,
Bansal, Burger, Fitzgibbons, Fitzgibbons, Helgstrand, Heniford, Hesselink, Itani, Itani, Lauscher, Muysoms, Nieuwenhuizen, Nieuwenhuizen, O'Dwyer, Pollock, Rogmark, Sanders, van Ramshorst   +17 more
core   +2 more sources

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Sliding inguinal hernias

International Journal of Surgery, 2012
To evaluate the frequency and anatomic presentation of sliding inguinal hernias as well as to analyze the technical difficulties during surgery and recurrence rate.During 18 months we have recorded in a prospective manner data on all patients operated in one hospital for non-complicated inguinal hernia.
Komorowski, Andrzej L., Moran-Rodriguez, Jorge, Kazi, Rehan, Wysocki, Wojciech M.   +3 more
openaire   +2 more sources