Results 171 to 180 of about 148,938 (327)

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher   +3 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman   +23 more
wiley   +1 more source

Neonatal Anaesthetic Management of a Patient with Goldenhar's Syndrome with Hydrocephalus [PDF]

open access: bronze, 1987
Jean-Louis Scholtès   +4 more
openalex   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

open access: yesExperimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu   +5 more
wiley   +1 more source

Fresh frozen plasma therapy in type I plasminogen deficiency: a case of ligneous conjunctivitis with hydrocephalus. [PDF]

open access: yesOxf Med Case Reports
AboGhayyada I   +5 more
europepmc   +1 more source

Lack of formation of Reissner fiber leads to hydrocephalus [PDF]

open access: gold, 2007
Sara Rodrı́guez   +13 more
openalex   +1 more source

An eye on long‐duration spaceflight: Controversies, countermeasures and challenges

open access: yesExperimental Physiology, EarlyView.
Abstract Space flight‐associated neuroocular syndrome (SANS) is a consequence of long‐duration space flight and is detected in two‐thirds of astronauts. In‐flight, this can cause a change in the refraction of the eyes, requiring graded hypermetropic ‘superfocus adjustable’ glasses, optic nerve head oedema and choroidal folds.
Vincent Wing Sum Ng   +1 more
wiley   +1 more source

Comparison of various predictive tools in predicting risk of cerebrospinal fluid diversion post-resection of posterior fossa tumors: A systematic review. [PDF]

open access: yesPak J Med Sci
Irshad S   +10 more
europepmc   +1 more source

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