Results 211 to 220 of about 1,325,675 (292)

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Experiences and Perceptions of Hospital to Home Transitional Care for Parents of Premature Infants in Neonatal Intensive Care Unit: A Qualitative Meta-Synthesis. [PDF]

Nurs Open
Lu Q, Liu X, Shen Q, Wang S, Liu Z.
europepmc   +1 more source

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

SCAI Position Statement on Transcatheter Occlusion of Patent Ductus Arteriosus in Premature Infants. [PDF]

J Soc Cardiovasc Angiogr Interv
Batlivala SP, Boucek D, Downing T, Head T, Herbert C, Levy P, Ligon RA, Mitra S, Salavitabar A, Sathanandam S, Taggart N, Zablah J, Zahn E, Gordon BM.   +13 more
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

Correlation analysis between patent ductus arteriosus and bronchopulmonary dysplasia in premature infants. [PDF]

Ital J Pediatr
Luo H, Liu Y, Yan C, Weng B, Zhao L, Cai C.   +5 more
europepmc   +1 more source

Interventions for premature infants

The Journal of Pediatrics, 1986
openaire   +2 more sources

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

Pulmonary Hemorrhage in Premature Infants: Pathophysiology, Risk Factors and Clinical Management. [PDF]

Biomedicines
Sahussarungsi S, Lapointe A, Villeneuve A, Hebert A, Nouraeyan N, Lakshminrusimha S, Singh Y, Sabapathy C, Cavallé-Garrido T, Sant'Anna G, Altit G.   +10 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