Results 151 to 160 of about 132,089 (282)

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

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

Respiratory Syncytial Virus (RSV): A Comprehensive Overview From Basic Biology to Clinical Prevention and Control

Medicinal Research Reviews, EarlyView.
ABSTRACT Respiratory syncytial virus (RSV) is a common virus that causes respiratory infections, posing a serious threat, particularly to infants, the elderly, and individuals with compromised immune systems. As the leading cause of lower respiratory tract infections (LRTIs) in infants, RSV is responsible for millions of cases worldwide each year.
Jie Shi, Xiya Huang, Chunjun Ye, Yishan Lu, Yanyan Liu, Yuquan Wei, Xiawei Wei   +6 more
wiley   +1 more source

Purpura Fulminans and Group B Streptococcal Sepsis in an Extremely Low Birth Weight Premature Infant. [PDF]

Case Rep Infect Dis
Puvabanditsin S, Sandouk A, Lee I, Shah M, Halari A, Park SY, Mehta R.   +6 more
europepmc   +1 more source

More than meets the eye: The hidden burden of temporary feeding tubes on children and their families

Nutrition in Clinical Practice, EarlyView.
Abstract Background Although pediatric temporary (e.g., nasogastric) feeding tubes are widely used for short‐term nutrition support, family impacts remain poorly defined. Research from long‐term (e.g., gastrostomy) feeding tubes does not generalize because management and burdens differ. This study aimed to explore the financial, time and family burdens
Claire Reilly, Jasmine Foley, Rebecca Packer, Nikhil Thapar, Syed Afroz Keramat, Jeanne Marshall   +5 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

Patterns of parenteral nutrition use in the inpatient setting: A retrospective cohort study

Nutrition in Clinical Practice, EarlyView.
Abstract Background Parenteral nutrition (PN) supports patients unable to absorb sufficient nutrients from their gastrointestinal tracts. Yet, information about the patterns and extent of PN's in‐hospital use is lacking. Data on this topic should provide comparison points for nutrition support teams and hospital administrators examining PN use in their
Marc Romain, Charles Weissman, Khuloud Abu‐Tair, Abdallah Alla Aldin, Rivki Harari, Orit Bitner, Alexander Furmanov, Shaul Yaari   +7 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

Bilateral Transcranial Doppler Monitoring During Neonatal Cardiac Surgery; Guidance for Clinical and Scientific Use

Pediatric Anesthesia, EarlyView.
ABSTRACT Introduction Neonates undergoing cardiac surgery face a high risk of neurological injury and neurodevelopmental complications. Transcranial Doppler monitoring is used and validated in adults to measure cerebral blood flow and can provide valuable insights into cerebral perfusion in neonates.
B. V. Martherus, T. Alderliesten, E. M. R. Fonteyn, I. Ceelie, D. J. van Vriesland, J. Nijman, H. Talacua, R. A. J. Nievelstein, J. Dudink, M. J. N. L. Benders, W. F. F. A. Buhre, K. van Loon   +11 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