Results 161 to 170 of about 131,510 (260)

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

Dual tachycardia in a premature infant: a rare case report and literature review. [PDF]

Front Cardiovasc Med
Xu M, Qiu Q, Yan C, Yan Z, Hou C, Xiao T, Zhang L.   +6 more
europepmc   +1 more source

Zone 3 Aggressive Retinopathy of Prematurity in a Near-Term Delivered Big Baby With a Birth Weight of 3,200 g. [PDF]

Cureus
Jain KS, Takkar B, Belenje A.
europepmc   +1 more source

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

Using administrative data to predict the outcomes of prematurity (EB-POC): a protocol for a linkage study from an Australian Neonatal Network. [PDF]

BMJ Open
Abdel-Latif M, Nanda P, Ovalles G, Dyson A.   +3 more
europepmc   +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

New Insights: P.I.G in Preterm Infants With Isolated PDA and Severe Pulmonary Hypertension. [PDF]

Case Rep Pediatr
Fadel NB, Almoli E, de Nanassy J, Mashally S.   +3 more
europepmc   +1 more source

Socio-Economic status, nutrition and health [PDF]

, 2003
De Backer, Gui, De Henauw, Stefaan, Matthys, Christophe   +2 more
core  

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

Epidemiological trends of infant mortality related to premature rupture of membranes: U.S. 1999-2023. [PDF]

Front Public Health
Eason L, Zent I, Brown M, Tauseef A, Murugan V.   +4 more
europepmc   +1 more source