We present a 55-year-old woman with periodic fever and symptoms similar to adult-onset Still's disease (AOSD). She had a heterogeneous mutation of the gene and colchicine was effective. Atypical familial Mediterranean fever (pyrin-associated autoinflammatory disease) should be considered in patients with periodic fever accompanied by symptoms similar to AOSD.
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http://dx.doi.org/10.1002/ccr3.2102 | DOI Listing |
Gac Med Mex
January 2025
Laboratorio de Reprogramación Celular y Enfermedades Crónico-Degenerativas, Department of Physiology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Progressive supranuclear palsy (PSP) is a rare, atypical parkinsonism, characterized by the presence of intracerebral tau protein aggregates and determined by a wide spectrum of clinical features. The definitive diagnosis is postmortem and is identified through the presence of neuronal death, gliosis, and aggregates of the tau protein presented in the form of neurofibrillary tangles (MNF) with a globose appearance in regions such as the subthalamic nucleus, the substantia nigra, and the globus pallidus The findings in ancillary imaging studies, as well as fluids biomarkers, are not sufficient to support diagnosis of PSP but are used to rule out similar pathologies because there are still no specific or validated biomarkers for this disease. The current treatment of PSP is focused on reducing symptoms, although emerging therapies seek to counteract its pathophysiological mechanisms.
View Article and Find Full Text PDFRev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
School of Education, University of Sheffield, Sheffield, UK.
New parenthood in ordinary times can be a vulnerable and unpredictable time. The Covid-19 pandemic brought additional, unprecedented changes to policy and practice that drastically impacted on the experiences of parents. This study aimed to enhance our understanding of the experiences of new parents during the pandemic by qualitatively analysing their experiences.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
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