Hypothyroidism is a frequently diagnosed endocrine disorder that has characteristic clinical signs and symptoms. Myopathy is one of the manifestations of hypothyroidism and relatively common. We report a case of Hoffmann's Syndrome due to hypothyroid myopathy documented by clinical features, laboratory findings and positive response to thyroid hormone replacement therapy. A man, age of 22, was diagnosed as having primary hypothyroidism at the age of five, had been describing progressive weakness in his arms and legs for two months and complained about generalized muscle cramps and pain. He was diagnosed with Hoffmann's syndrome with low levels of thyroid hormones and high levels of muscle enzymes. After six months of thyroid hormone replacement therapy, both the clinical picture and laboratory findings were remarkably improved.
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BMJ Case Rep
January 2025
Internal Medicine, RG Kar Medical College and Hospital, Kolkata, West Bengal, India.
Hoffmann syndrome, a rare manifestation of hypothyroid myopathy in adults, is characterised by muscle weakness, stiffness and pseudohypertrophy. Here, we report the case of a middle-aged man who presented with progressive weakness in proximal muscles (in the form of difficulty in climbing stairs, rising from a seated position, combing hair and lifting objects) and leg swelling for 6 months. Physical examination revealed pseudohypertrophy of calf muscles with pronounced symmetric weakness in proximal upper and lower limbs.
View Article and Find Full Text PDFCell Rep
January 2025
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; The Brain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.
View Article and Find Full Text PDFJ Neurodev Disord
January 2025
Rett Syndrome Research Trust, Trumbull, CT, USA.
Background: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.
Design: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.
Methods: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite treatment.
Sci Rep
January 2025
University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
During the omicron wave of the COVID-19 pandemic and with SARS-CoV-2 vaccines becoming available, seroprevalence rates rose in children and adolescents. This study investigated the impact of both SARS-CoV-2 infections and vaccinations on the incidence of acute and prolonged symptoms in real-world conditions during the transition from the pandemic to the endemic phase. Participants from a pediatric population based seroprevalence study (CorKID study) were followed up at least two and for almost four years by survey of health status features and symptoms suggestive of post-COVID syndrome (PCS).
View Article and Find Full Text PDFHum Brain Mapp
February 2025
Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, Groningen, The Netherlands.
Cognitive impairment is considered to be one of the key features of Parkinson's disease (PD), ultimately resulting in PD-related dementia in approximately 80% of patients over the course of the disease. Several distinct cognitive syndromes of PD have been suggested, driven by different neurotransmitter deficiencies and thus requiring different treatment regimes. In this study, we aimed to identify characteristic brain covariance patterns that reveal how cholinergic denervation is related to PD and to cognitive impairment, focusing on four domains, including attention, executive functioning, memory, and visuospatial cognition.
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