Thermoregulatory Dysfunction in Parkinson’s Disease: Mechanisms, Implications, and Therapeutic Perspectives [PDF]
CellsThermoregulatory dysfunction—temperature intolerance and/or inappropriate compensation—is an underrecognized feature of Parkinson’s disease (PD) and is linked to poor quality of life.
Zechariah S. Pressnell +4 more
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Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study [PDF]
Acta Dermato-VenereologicaThis nationwide population-based study investigated the risk of death, infections, and hyperthermia in Danish patients with ectodermal dysplasia (ED). A validated cohort of ED patients (n = 396) and matched population comparators (n = 3960) was compared ...
Laura Krogh Herlin +3 more
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Bilateral avascular necrosis: A rare complication of Fabry disease [PDF]
Molecular Genetics and Metabolism ReportsFabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano +3 more
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Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report [PDF]
Case Reports in DentistryHereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Sana Lala, Ammar Almustafa
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Oral minoxidil treatment for hypotrichosis in Lelis syndrome [PDF]
JAAD Case ReportsIshan Bhanot, BS, BA +6 more
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Chest Discomfort, Left Ventricular Hypertrophy, Global T‐Wave Inversion, and Short PR Interval Points to a Particular Cardiac Condition. What Could Be the Diagnosis? [PDF]
Annals of Noninvasive ElectrocardiologyThis article describes a 44‐year‐old female with Fabry disease presenting with a 7‐year history of chest discomfort, extremity pain, and hypohidrosis.
Jing‐Xiu Li +5 more
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Clinical and histological characterization of transient dermal pain triggered by sweating stimuli
Allergology International, 2022 Background: Tingling dermal pain triggered by sweating impairs the lives of patients with cholinergic urticaria and generalized anhidrosis. However, dermal pain evoked by sweating stimuli has been under investigated.
Shunsuke Takahagi +7 more
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Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs +3 more
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European Journal of Medical Research, 2023 Background Drug repurposing refers to the application of existing drugs to new therapeutic indications. As phenotypic indicators of human drug response, drug side effects may provide direct signals and unique opportunities for drug repurposing ...
Yi Liu +6 more
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Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
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