Results 41 to 50 of about 10,726 (214)

Periventricular leukomalacia is common after neonatal cardiac surgery

, 2004
ObjectivesPeriventricular leukomalacia is necrosis of the cerebral white matter adjacent to the lateral ventricles and results from injury to immature oligodendroglia.
Newman, Mark F, Gaynor, J.William, Mahle, William T, Kuypers, Marijn K, Zimmerman, Robert A, Wernovsky, Gil, Galli, Kristen K, Spray, Thomas L, Montenegro, Lisa M, Jarvik, Gail P, Clancy, Robert R, Saunders, Ann M, Nicolson, Susan C   +12 more
core   +1 more source

Motor Pathway Injury with Periventricular Leukomalacia and Spastic Diplegia

Pediatric Neurology Briefs, 2011
The relationship between motor pathway injury and motor impairment was investigated by voxelwise correlation analysis in 43 patients (median age 12 years) with periventricular leucomalacia and spastic diplegia at Yonsei University College of Medicine ...
J Gordon Millichap
doaj   +1 more source

Mouse Models of Periventricular Leukomalacia [PDF]

, 2010
We describe a protocol for establishing mouse models of periventricular leukomalacia (PVL). PVL is the predominant form of brain injury in premature infants and the most common antecedent of cerebral palsy.
Plane, Jennifer M, Deng, Wenbin, Shen, Yan   +2 more
core   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age

, 2018
To determine the outcome of preterm infants whose cystic periventricular leukomalacia "disappeared" on serial screening cranial imaging studies. Infants ≤26 weeks of gestation born between 2002 and 2012 who had cranial imaging studies at least twice, the
Wyckoff, Myra H, Carlo, Waldemar A, Hintz, Susan R, Sanchez, Pablo J, Das, Abhik, Barks, John, Shankaran, Seetha, Laptook, Abbot R, Van Meurs, Krisa P, Bell, Edward F, Sarkar, Subrata, Stoll, Barbara J, Do, Barbara T, Ambalavanan, Namasivayam   +13 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

''Intraventricular'' hemorrhage and cystic periventricular leukomalacia in preterm infants: how are they related?

, 2009
Contains fulltext : 76138.pdf (Publisher’s version ) (Closed access)Intraventricular hemorrhage and cystic periventricular leukomalacia are often co-occurring characteristics of brain damage in preterm infants.
Chen, M.L., Follett, P.L., Kusters, C.D.J., Dammann, O.   +3 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Animal Models of Periventricular Leukomalacia [PDF]

Laboratory Animal Research, 2011
Periventricular leukomalacia, specifically characterized as white matter injury, in neonates is strongly associated with the damage of pre-myelinating oligodendrocytes. Clinical data suggest that hypoxia-ischemia during delivery and intrauterine or neonatal infection-inflammation are important factors in the etiology of periventricular leukomalacia ...
Choi, Ehn-Kyoung, Park, Dongsun, Kim, Tae Kyun, Lee, Sun Hee, Bae, Dae-Kwon, Yang, Goeun, Yang, Yun-Hui, Kyung, Jangbeen, Kim, Dajeong, Lee, Woo Ryoung, Suh, Jun-Gyo, Jeong, Eun-Suk, Kim, Seung U., Kim, Yun-Bae   +13 more
openaire   +2 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source