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Left Upper Extremity Pain, Right Coronary Artery Culprit: A Puzzling Path to Aneurysm Discovery
We report a case of an adult harboring a GCA involving the right coronary artery.PMID:38618608 | PMC:PMC11011955 | DOI:10.14797/mdcvj.1287 (Source: Methodist DeBakey Cardiovascular Journal)
Source: Methodist DeBakey Cardiovascular Journal - April 15, 2024 Category: Cardiology Authors: Moath Said Alfawara Vivek Modi Min-Fang Chao Malek Nayfeh Fares Alahdab Mahmoud Alrifai Mouaz Al-Mallah Source Type: research

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
ConclusionsCPTII deficiency may be suspected in newborns showing cardiac arrhythmias, associated or not with hypertrophic cardiomyopathy, polycystic kidneys, brain malformations, hepatomegaly. Its diagnosis should be even more suspected and investigated in cases of increased plasmatic levels of creatine phosphokinase and acylcarnitines in addition to kidney, heart and liver dysfunctions, as occurred in the present patient. Accurate family history, extended metabolic screening, and multidisciplinary approach are necessary for diagnosis and adequate management of affected subjects. Next generation sequencing (NGS) techniques...
Source: Italian Journal of Pediatrics - April 14, 2024 Category: Pediatrics Source Type: research

Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review
ConclusionsThe results highlighted issues around a considerable paucity of evidence for economic evaluations and few cost-effectiveness analyses, supporting the notion that a paucity of evidence makes economic evaluations of rare diseases more challenging compared with more prevalent diseases. Furthermore, we provide recommendations for more sustainable approaches in economic evaluations of rare diseases. (Source: PharmacoEconomics)
Source: PharmacoEconomics - April 14, 2024 Category: Health Management Source Type: research

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 13, 2024 Category: Internal Medicine Authors: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo and Ruth Pulikottil-Jacob Tags: Research Source Type: research

Anesthesia management for a child with the Koolen-de Vries syndrome: a case report
The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmenta... (Source: BMC Anesthesiology)
Source: BMC Anesthesiology - April 13, 2024 Category: Anesthesiology Authors: Yuyi Zhao and Yunxia Zuo Tags: Case Report Source Type: research

Lessons from prospective longitudinal follow-up of a French APECED cohort
CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.PMID:38605470 | DOI:10.1210/clinem/dgae211 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 12, 2024 Category: Endocrinology Authors: Linda Humbert Emmanuelle Proust-Lemoine Sylvain Dubucquoi Elisabeth Helen Kemp Pascale Saugier-Veber Nicole Fabien Isabelle Raymond-Top Catherine Cardot-Bauters Jean-Claude Carel Maryse Cartigny Olivier Chabre Philippe Chanson Brigitte Delemer Christine D Source Type: research

Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report
CONCLUSION: The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.PMID:38605931 | PMC:PMC11007090 | DOI:10.3389/pore.2024.1611705 (Source: Pathology Oncology Research)
Source: Pathology Oncology Research - April 12, 2024 Category: Pathology Authors: Yuqing Liu Zhenwei Chen Lu Wang Baizhou Li Source Type: research