Results 211 to 220 of about 238,784 (309)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Emicizumab prophylaxis in a preterm infant with severe hemophilia A: a case report on the feasibility of early use. [PDF]

Res Pract Thromb Haemost
Hassan E, Percy C, Ahmed A, Lowe G, Lester W, Morgan NV, Motwani J.   +6 more
europepmc   +1 more source

Appendiceal torsion in a premature infant

Asian Journal of Surgery
Chao Zheng, Yu Lin, Yifan Fang
doaj   +1 more source

Evaluating Neurodevelopmental Sequelae of Propranolol Use in Infantile Hemangioma: A Large‐Scale Population‐Based Study

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Propranolol is widely adopted as the first‐line treatment for problematic infantile hemangioma (IH). Despite its efficacy and widespread use, concerns persist about potential long‐term neurodevelopmental risks, given propranolol′s ability to cross the blood‐brain barrier during early development. Objectives To evaluate the long‐term
Khalaf Kridin, Samer Kridin, Wisal Sawaed, Ralf J. Ludwig   +3 more
wiley   +1 more source

Application of Field's massage therapy in an extremely premature infant: Case report. [PDF]

Rev Cuid
Parra Reyes H, Rincón Ascanio AC, Peña Vargas ER, Galvis Pinto VT.   +3 more
europepmc   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Successful Use of Recombinant Tissue Plasminogen Activator in an Extremely Low Birth Weight Premature Infant for the Resolution of Multiple Thrombi. [PDF]

AJP Rep
Mody K, Wade C, Micetic B, Vernon M, Wade N.   +4 more
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Phenomenological research in the field of Infant Mental Health and Early Childhood (IECMH) -A mapping review. [PDF]

Infant Ment Health J
Sorsa M, Dahl B, Røseth I.
europepmc   +1 more source