Results 131 to 140 of about 76,999 (251)

Splenomegaly and Hydrocephalus [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Brain strain: Blood flow and metabolism in environmental extremes

open access: yesExperimental Physiology, EarlyView.
Abstract This narrative review compares and contrasts the most commonly encountered environmental stressors on human cerebrovascular functioning. From high altitude and space, extreme apnoea, heat and cold stress, the impact of these stressors on the regulation of cerebral blood flow (CBF) and oxygen metabolism (CMRO2${\mathrm{CM}}{{\mathrm{R}}_ ...
Dario Vrdoljak   +3 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

PITCH (pediatric infratentorial tumors - hydrocephalus-related complications) registry study design: observational, prospective, multicenter study evaluating the number of surgeries associated with the treatment of hydrocephalus secondary to infratentorial tumors in childhood and adolescence. [PDF]

open access: yesChilds Nerv Syst
da Costa MDS   +35 more
europepmc   +1 more source

Hydrocephalus with Syringomyelia [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1937
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

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