Results 221 to 230 of about 372,911 (292)

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

Comparative Effects of Zinc and Probiotics on Neonatal Indirect Hyperbilirubinemia Undergoing Phototherapy. [PDF]

Cureus
Fazal MMU, Anwar M, Umar Shafiq M, Yousaf R, Shahid M, Abbasi S.   +5 more
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +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

Impact of Blood Herpes Simplex Virus Polymerase Chain Reaction Testing in Neonatal Management of Herpes Simplex Virus Infection: An Institutional Experience. [PDF]

Cureus
Alvarez AM, Vega M, Valencia-Shelton F, Rathore MH.   +3 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

External Pharmacokinetic Model Evaluation of Caffeine in Critically Ill Neonates With Heart Disease Using Data Collected From a Pragmatic Platform Trial. [PDF]

J Pediatr Pharmacol Ther
Hallock C, Hawk A, Castro C, DiCello J, Storer AL, Sielaty R, Foote HP, Benjamin DK, Helfer VE, Gonzalez D, Zimmerman KO, Hornik CP, Thompson EJ.   +12 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Incidence and Associated Factors of Cord Infection Among Neonates at Fort Portal and Hoima Regional Referral Hospitals. [PDF]

Infect Drug Resist
Hassan MA, Lopez DC, Maren Snr MB, Elfakey WEM, Bule KM, Ahmed AH, Jayte M, Mohamud LH, Farah MM, Abdullahi AA, Agwu E.   +10 more
europepmc   +1 more source