Results 71 to 80 of about 309,203 (310)

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

The Abduction of Disorder in Psychiatry [PDF]

, 1999
The evolutionary cornerstone of J. C. Wakefield's (1999) harmful dysfunction thesis is a faulty assumption of comparability between mental and biological processes that overlooks the unique plasticity and openness of the brain?s functioning design.
Hinshaw, Stephen P., Richters, John E.
core   +1 more source

Assessing Cognitive Functioning in Children With Brain Tumors: Interaction of Neighborhood Social Determinants of Health and Neurological Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background This study investigated how neighborhood‐level social determinants of health (SDOH), including redlining and neurological risk, interact to influence cognitive outcomes in children treated for brain tumors (CTBT). Methods A retrospective chart review of 161 CTBT aged 5–17 was conducted.
Alannah R. Srsich, Manali Zope, Peter M. Fantozzi, Cassie N. Kline, Iris Paltin, Matthew C. Hocking   +5 more
wiley   +1 more source

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

International Journal of Neonatal Screening, 2016
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible ...
Barry Wolf
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Inherited disorders of renal hypomagnesaemia [PDF]

Nephrology Dialysis Transplantation, 2014
The kidney plays a key role in the maintenance of normal magnesium balance. The distal tubule of the kidney, namely the thick ascending limb of the loop of Henle and the distal convoluted tubule, is crucial for the regulation of serum magnesium levels and body magnesium content.
Martin, Konrad, Karl Peter, Schlingmann
openaire   +2 more sources

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER

Mediterranean Journal of Hematology and Infectious Diseases
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni   +3 more
doaj   +1 more source

The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Journal of Pediatrics Review, 2021
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific ...
Abdolreza Medghalchi, Afagh Hassanzadeh Rad, Setila Dalili   +2 more
doaj