Results 151 to 160 of about 4,470 (211)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Psychometric properties of ADHD screening and diagnostic tools in patients with severe substance use disorders. [PDF]

Int J Clin Health Psychol
Therribout N, Romo L, Hennequin T, Chrétienneau C, Davost L, Fontaine T, Bellivier F, Vorspan F, Dereux A, Karsinti E, Icick R.   +10 more
europepmc   +1 more source

Plate technique adaptation of the widal test.

Indian journal of pathology & microbiology, 1981
S K, Hamsavadani, R, Vasanthakumari, M, Mallika   +2 more
openaire   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Prevalence and Antimicrobial Resistance of Typhoid Fever in Ghana: A Systematic Review and Meta-Analysis. [PDF]

Diseases
Kungu F, Awere-Duodu A, Donkor ES.
europepmc   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Acute Q Fever Presenting with Severe Cholestatic Jaundice and Acute Kidney Injury in the Absence of Classic Exposure: A Rare Case Report. [PDF]

Clin Med Insights Case Rep
Zodeh K, Youssef T, Attieh P, Othman M.
europepmc   +1 more source

Salmonella-associated endophthalmitis in healthy infants: Two case reports and a review of the literature. [PDF]

Am J Ophthalmol Case Rep
Alhejaili A, Alsaif A, Madani F, Althaqib RN, Semidey V, Babgi R, Alsulaiman HM.   +6 more
europepmc   +1 more source

Materno-fetal impact of scrub typhus in pregnancy: Clinical profiles, laboratory parameters and biomarkers. [PDF]

J Family Med Prim Care
Matlani M, Goel A.
europepmc   +1 more source