Results 201 to 210 of about 237,948 (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

The Premature Infants' Gut Microbiota Assembly and Neurodevelopment (PIGMAN) Cohort Study: Protocol for a Prospective, Longitudinal Cohort Study. [PDF]

Children (Basel)
Li T, Fang L, Chen X, He Y, Pang X, Lin L, Chen H, Su Y, Huang Y, Guo Y, Xiao T, Liu A, Wang Y, Yang H, Nie C, Zhou W, Yang G, Cai C, Zhou X, Zeng S, Yu Y, Li L, Zhang H, Yu L, Cheng G, Zhou W, Chen C, Yu Z, Wang M, Xie Y.   +29 more
europepmc   +1 more source

Just be the parent

Journal of Hospital Medicine, EarlyView.
Andrew S. Kern‐Goldberger
wiley   +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

Correction: Stimulating the motor development of very premature infants: effects of early crawling training on a mini-skateboard. [PDF]

Front Pediatr
Dumuids-Vernet MV, Forma V, Provasi J, Anderson DI, Hinnekens E, Soyez E, Strassel M, Guéret L, Hym C, Huet V, Granjon L, Calamy L, Dassieu G, Boujenah L, Dollat C, Biran V, Barbu-Roth M.   +16 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

Comparison of the Effect of Milk Booster Drops and Acupressure on the Milk Volume of Mothers with Premature Infants: A Randomized Clinical Trial. [PDF]

Iran J Nurs Midwifery Res
Pouresmaeili N, Shoorab NJ, Sezavar M, Bahrami-Taghanaki H, Shakeri M, Boskabadi H, Ahmadinejad G.   +6 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

"Effect of a support program on fathers' stress and anxiety during initial NICU encounter with premature infants: a randomized clinical trial". [PDF]

Reprod Health
Hasanpoor-Azghady SB, Mousavi SS, Jafari SP, Razavinia F, Haghani S.   +4 more
europepmc   +1 more source