Results 91 to 100 of about 54,392 (259)

Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza, Kette D. Valente   +1 more
wiley   +1 more source

result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

, 2023
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053).
Zhu, Ying, Kimberly Glaser, Wentzensen, Ingrid MM, Santos, Francis Jeshira Reynoso, Thomas-Wilson, Amanda, Vink, Rebecca, Alesky Caffo, Lindsay B. Henderson, Alkhunaizi, Ebba, Chitayat, David, David Chitayat, Ying Zhu, Susan Blaser, Ebba Alkhunaizi, Costa, Fabricio da Silva, Blaser, Susan, Fabricio da Silva Costa, Laura Russell, Henderson, Lindsay BB, Elaine Maria Pereira, Glaser, Kimberly, Di Corleto, Ellen, John P. Schacht, Rebecca Vink, Schacht, John PP, Tony Roscioli, Francis Jeshira Reynoso Santos, Ingrid M. Wentzensen, Michael F. Buckley, Mythily Ganapathi, Ellen Di Corleto, Caffo, Alesky, Zhang, Futao, Amanda Thomas‐Wilson, Futao Zhang, et al.   +35 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Pyridostigmine-Induced Microcephaly

Pediatric Neurology Briefs, 2000
The association of high-dose pyridostigmine (PYD) during pregnancy with microcephaly and CNS injury in an infant is reported from the Children’s Hospital Los Angeles, CA.
J Gordon Millichap
doaj   +1 more source

Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series

JPGN Reports, EarlyView.
Abstract Objectives Gestational alloimmune liver disease is the leading cause of neonatal acute liver failure, hypothesized to emerge from maternal exposure to an antigen that is expressed on fetal hepatocytes, resulting in maternal‐fetal alloimmune attack and activation of the complement cascade.
Naseem Ravanbakhsh, Ashley M. Upton, Chun‐Sing Huang, Nhu Thao N. Galván, John Goss, Sanjiv Harpavat, Jose A. Hernandez   +6 more
wiley   +1 more source

Zika Virus Potentiates the Development of Neurological Defects and Microcephaly: Challenges and Control Strategies

Frontiers in Neurology, 2019
Since the beginning of the Zika Virus (ZIKV) epidemic, thousands of cases presenting ZIKV symptoms were recorded in Brazil, Colombia (South America), French Polynesia and other countries of Central and North America.
Rabeea Siddique, Rabeea Siddique, Yang Liu, Yang Liu, Ghulam Nabi, Ghulam Nabi, Wasim Sajjad, Wasim Sajjad, Mengzhou Xue, Mengzhou Xue, Suliman Khan, Suliman Khan, Suliman Khan   +12 more
doaj   +1 more source

Zika Virus Infection and Microcephaly

, 2016
A Task Force established by the Brazil Ministry of Health investigated the possible association of microcephaly with Zika virus infection during pregnancy and a registry for microcephaly cases among women suspected to have had Zika virus infection during
J. Gordon Millichap
core   +1 more source

Treatment of Congenital Cytomegalovirus Beyond the Neonatal Period: A Single‐Arm Meta‐Analysis

The Laryngoscope, EarlyView.
This systematic review and single‐arm meta‐analysis evaluated hearing outcomes following antiviral therapy initiated after the neonatal period in children with congenital cytomegalovirus infection. Across eight studies including 192 patients, post‐neonatal treatment was associated with meaningful hearing improvement and low rates of hearing ...
Thamiris D. D. Cabral, Marcela Mafra, Jaime Plane, Matheus Sewastjanow‐Silva, Isadora Martins Nascimento, Asitha D. L. Jayawardena, Abby Meyer, Andrew Redmann, Luke Jakubowski   +8 more
wiley   +1 more source

Misclassification in defining and diagnosing microcephaly [PDF]

, 2019
Background: Several health agencies define microcephaly for surveillance purposes using a single criterion, a percentile or Z-score cut-off for newborn head circumference.
Stringer, E.M., Daniel Westreich, Elizabeth M. Stringer, Kalmin, M.M., Westreich, D., Natalie M. Bowman, Elizabeth T. Rogawski McQuade, Gower, E.W., Bowman, N.M., Rogawski McQuade, E.T., Mariah M. Kalmin, Emily W. Gower   +11 more
core   +1 more source