Results 131 to 140 of about 23,044 (252)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Febrile Seizures: Clinical Insights From Decades of the National Institutes of Neurological Diseases and Stroke (NINDS) Support. [PDF]

Epilepsy Curr
Stafstrom CE.
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Study on the correlation between Interleukin 4 and febrile seizures. [PDF]

Cytojournal
Xiang X, Wang S, Tang C, Jin H, Lei L, Mao G, Huang X, Huang B.   +7 more
europepmc   +1 more source

Getting It Right the Second Time: How Can we Optimize First‐Generation Cephalosporin Dosing for Skin and Soft Tissue Infections in the 21st Century?

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 46, Issue 7, July 2026.
ABSTRACT Optimal cephalexin and cefadroxil dosing for skin and soft tissue infections (SSTIs) is unclear. We summarize clinical and pharmacokinetic/pharmacodynamic (PK/PD) data that compare dosing strategies for SSTIs. Additionally, we conduct population PK target attainment simulations for varying doses of cephalexin and cefadroxil for Staphylococcus ...
Jonathan H. Ryder, Shawnalyn W. Sunagawa, Nathaniel J. Rhodes, Trevor C. Van Schooneveld, Jeremy E. Tigh, Sean N. Avedissian, Nicolas Cortes‐Penfield   +6 more
wiley   +1 more source

Diagnostic utility of circulating interleukin-1 beta and microRNA-146a in differentiating febrile seizures from other pediatric conditions. [PDF]

World J Exp Med
Mohammadi S, Abbood Hameed Ati M, Seyedhosseini FS, Zare Ebrahimabad M, Saeidi M, Hosseini SA, Darweesh M, Al-Harrasi A, Yazdani Y.   +8 more
europepmc   +1 more source

Improved Detection and Sequencing of Rickettsia spp. DNA in South African Wildlife

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
Nested gltA PCR detected Rickettsia spp. DNA in 44% of South African wildlife samples previously negative by RLB, revealing spotted fever, typhus and transitional group lineages, novel host records, co‐infection and multi‐organ dissemination in impala, highlighting complex wildlife involvement and zoonotic risk within a One Health framework.
Carlo Andrea Cossu, Maria Luisa Menandro, Alessandra Mondin, Giorgia Dotto, Raksha Vasantrai Bhoora, Henriette van Heerden   +5 more
wiley   +1 more source

Levels of IL-1β and IL-1 receptor antagonist (IL-1Ra) in Moroccan children admitted to the pediatric emergency department for febrile seizures. [PDF]

BMC Pediatr
Abbari I, Missaoui S, Kholaiq H, Benbouziane N, Aadam Z, Abderrahmane E, El Bakkouri J, Bousfiha AA, Gueddari W.   +8 more
europepmc   +1 more source

Prevalence and Risk Factors of Q Fever in Smallholder Dairy Farms in Kenya

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
Serological and molecular screening revealed widespread exposure to Coxiella burnetii in dairy cattle, linked to reproductive and herd management risk factors. Strengthened surveillance and herd‐level biosecurity are critical to reducing Q fever transmission. ABSTRACT Background Q fever is a neglected zoonotic disease of global concern.
Joseph Samuel Kimatu, Jackson Nyarongi Ombui, Timothy Muthui Wachira, Joseph Wasonga, Sylvia Cheptoo, Benson Rukwaro, Susan Migeni, Christine Mutisya, Getrude Nangekhe, Benedict Karani, Gideon Ndambuki, Erhan Yalcindag, Barend Mark de Clare Bronsvoort, Lina González Gordon, Elizabeth Anne Jessie Cook   +14 more
wiley   +1 more source