Results 221 to 230 of about 557,287 (304)

Ethical, Legal, and Social Implications of Newborn Screening in Africa: A Scoping Review. [PDF]

Int J Neonatal Screen
Samuel VO, Adejare AA, Useh U.
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Social Capital in the Newborn Period and Household Food Insecurity at Child Age Two Years. [PDF]

Acad Pediatr
Lambert JO, Wallace SE, Schildcrout JS, Heerman WJ, Wood CT, Flower KB, Yin HS, Sanders LM, Delamater AM, Rothman RL, Kay MC, Perrin EM.   +11 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Early essential newborn care: a decade of scaling up quality, life-saving interventions across East Asia and the Pacific (2013-2023). [PDF]

BMJ Glob Health
Sobel HL, Murray JCS, Mannava P, Delgermaa V, Pham HV, Li Z, Tran H, Chhour YM, Im S, Rathavy T, Kim R, Krang S, Cheang K, Phal S, Xu T, Rattana S, Singharaj V, Phrasithdeth B, Kounnavongsa O, Baldan T, Roland B, Waramin E, Salva M, Yaipupu J, Calibo AP, Constantino R, Bello M, Kitong J, Jatobatu A, Dinh TA, Tran KD, Tuan HA, Pham TQN, Orelly T, Bayandorj T, Ko E, Silvestre MA, Mason E, Obara H, Putney P, Kubota S.   +40 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Effect of zero-separation in mother-newborn care unit on preterm infant's stress and growth. [PDF]

Indian J Med Res
Kaushik L, Nehra K, Arya S, Anand P, Maiti TK, Wadhwa N, Chellani H.   +6 more
europepmc   +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

Geographical inequalities in skin-to-skin contact after birth among women in Somaliland: a multilevel and spatial analysis of the 2020 survey. [PDF]

Front Pediatr
Omer AA, Yousuf HJ, Egeh MH, Farah AA, Hussein AA, Ismail FN, Mohamoud BM.   +6 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source