We report a case of neuroleptic malignant syndrome (NMS) development after the ingestion of 960 mg of haloperidol in 18-year old male on the previous long-term neuroleptic treatment. Beside the severe rigidity and laboratory signs of rhabdomyolysis, firm swelling of gluteal and femoral areas, accompanied by pain and difficulty in the extension of the right leg, was noticed. The ultrasonography of the affected limb revealed partial rupture of quadriceps muscle. Since no signs of trauma or any other causes of muscle rupture were observed, we concluded that it developed due to the severe hypertonia and rhabdomyolysis in NMS. As there were no such cases previously reported, we wished to point out the possibility of muscle rupture development in NMS and propose the adequate diagnostic procedures and treatment.
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Cureus
December 2024
Pulmonology and Critical Care, Marshall University Joan C. Edwards School of Medicine, Huntington, USA.
Malignant hyperthermia is a pharmacogenetic disorder that manifests clinically as a hypermetabolic crisis when a patient with a mutation in the ryanodine or dihydropyridine receptor genes is exposed to neuromuscular blocking agents. Depolarizing neuromuscular agents are known to cause malignant hyperthermia, but cases caused by nondepolarizing agents are rarely reported. We present a case consistent with malignant hyperthermia after receipt of cisatracurium, a nondepolarizing anesthetic agent.
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January 2025
Muhimbili National Hospital, Dar es Salaam, Tanzania.
Hyper immunoglobulin M (IgM) syndromes are a collection of uncommon primary combined immunodeficiency disorders. They are characterized by recurrent bacterial infections due to low levels of IgG, IgA, and IgE, while IgM levels remain normal or high. These conditions stem from a mutation in the CD40 ligand gene or disruptions in the CD40-signaling pathway.
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January 2025
Department of Medicine, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada.
Background: Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. While there have been advancements in standardizing molecular tumor boards, the implementation of tumor profiling for germline-focused assessments has only recently gained momentum. However, this progress remains inconsistent across institutions, largely owing to a lack of systematic approaches for managing these findings.
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January 2025
The Department of Obstetrics, Obstetrics and Gynecology Hospital of Fudan University, 419 Fangxie Road, Huangpu Area, Shanghai, 200011, China.
Background: The objective of this study was to investigate the efficacy of low-dose aspirin (LDA) in preventing preeclampsia among pregnant women with polycystic ovary syndrome (PCOS), given the increased susceptibility of this population to preeclampsia development.
Methods: A retrospective cohort study was conducted on pregnant women with PCOS who delivered between January 1, 2018 and February 10, 2024 at our institution. Clinical characteristics and obstetric data were extracted from medical records.
Blood Cancer J
January 2025
Université de Toulouse 3 Paul Sabatier, Cancer Research Centre of Toulouse, UMR1037 Inserm, UMR5077 CNRS, Equipe Labellisée Ligue Nationale Contre le Cancer 2023, Equipe labélisée Institut Carnot Opale, 31037, Toulouse, France.
GATA2 germline mutations lead to a syndrome characterized by immunodeficiency, vascular disorders and myeloid malignancies. To elucidate how these mutations affect hematopoietic homeostasis, we created a knock-in mouse model expressing the recurrent Gata2 R396Q missense mutation. Employing molecular and functional approaches, we investigated the mutation's impact on hematopoiesis, revealing significant alterations in the hematopoietic stem and progenitor (HSPC) compartment in young age.
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