We present a 60-year-old female with a 23-year history of anhidrosis with concomitant heat intolerance. At examination, we found a right-sided tonic pupil, absent tendon reflexes, and a segmental patch of compensatory hyperhidrosis in the left lower quadrant of her trunk. To further confirm this finding, a minor test (a starch-iodine test, which is used to evaluate the sudomotor function, sweating) was performed. Nerve conduction studies revealed evidence of a mild distal sensory polyneuropathy of the axonal type. Tilt-table testing showed signs of orthostatic hypotension with evidence of reduced sympathetic function. Skin biopsy excluded pathology in the sweat glands. Our patient met the criteria for a diagnosis of Ross syndrome. This case describes the long-term outcome of this rare entity and highlights how careful examination and bedside autonomic testing can confirm the diagnosis of autonomic neurological disorders.
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http://dx.doi.org/10.1159/000507186 | DOI Listing |
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Genet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
J Dev Behav Pediatr
January 2025
Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA.
Objective: Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY).
View Article and Find Full Text PDFLancet Reg Health West Pac
December 2024
Avian Pathol
January 2025
Department of Animal Husbandry, Autonomous University of Chapingo, Chapingo, State of Mexico 56230, Mexico.
Ascites syndrome (AS) is a deadly condition in fast-growing chickens, preceded by pulmonary arterial hypertension (PAH), where the angiotensin II type 1 receptor (ATR1) plays a role. We investigated whether allicin (ALLI), a garlic derivative, could (a) interact with broiler ATR1, (b) affect ascites-related traits [haematocrit content (Hct%), blood oxygen saturation (SaO), and the right-to-total ventricular weight ratio (RV:TV)], (c) modify ATR1 expression in the lung, heart, and liver, alongside ascites mortality and growth performance in Ross 308 broilers raised at high altitude and under cold temperatures promoting PAH/AS. Three groups (n = 70 each) were studied: 0-ALLI (untreated), 1-ALLI (allicin 1 mg/kg body weight/daily at 14-27 days of age by oral-oesophageal route), and 2.
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