Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome
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
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]
Jean-Louis Scholtès +4 more
openalex +1 more source
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]
AboGhayyada I +5 more
europepmc +1 more source
Lack of formation of Reissner fiber leads to hydrocephalus [PDF]
Sara Rodrı́guez +13 more
openalex +1 more source
An eye on long‐duration spaceflight: Controversies, countermeasures and challenges
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]
Irshad S +10 more
europepmc +1 more source
Imaging Characteristics of Colloid Cysts: A Case Series Correlating Cyst Size and Location With Associated Acute Hydrocephalus. [PDF]
Varma S R, Suresh R, Ujjappa J.
europepmc +1 more source

