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IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

Abstract Background Variants in OTUD5 are associated with neurodevelopmental disorders (NDDs), yet the underlying molecular mechanisms remain unclear. This study aimed to investigate the pathogenicity of a novel OTUD5 va...

BackgroundThis study aimed to evaluate whether Mycoplasma pneumoniae resistance gene detection can independently guide antibiotic therapy for Mycoplasma pneumoniae pneumonia in children and to identify key predictors for...

BackgroundX-Linked agammaglobulinemia (XLA) is characterized by absent B cell development due to defects in the BTK gene. Patients with this condition have B cell aplasia as well as agammaglobulinemia and impaired vaccin...

ObjectiveTo evaluate the antimicrobial resistance characteristics and molecular epidemiological features of Escherichia coli in retail whole chickens in Beijing， including resistance rates， resistance profiles， ser...

BackgroundCampylobacter is the most common cause of bacterial food infections worldwide. In Algeria, data regarding the epidemiology, antimicrobial resistance and virulence of Campylobacter remain limited. This study aim...

IntroductionSTING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe type I interferonopathy caused by gain-of-function mutations in STING1, leading to early-onset systemic inflammation, cutaneous vas...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the productio...

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

Abstract Mixed gangliocytoma-pituitary neuroendocrine tumors (PitNETs) occurring in the sellar region are extremely rare neoplasms. To improve the understanding of these tumors and guide clinical diagnosis, a comprehensi...

Abstract With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal d...

Dermoscopy is currently the standard method for clinical differential diagnosis of cutaneous melanoma and for qualifying a lesion for excisional biopsy. Full thickness excisional biopsy of suspicious melanomatous skin le...

Abstract Background Antemortem diagnosis of degenerative myelopathy (DM) in dogs is presumptive and there are no accepted guidelines for the management of this condition. Hypothesis/Objectives Describe current practices ...

Malignant melanoma (MM) represents one of the most aggressive neoplasmsand its frequency is rapidly increasing. Familial aggregations ofthis malignancy are present in around 3-15% of all cases. CDKN2A isthe major “high...

Children with epilepsy frequently experience a range of significant comorbidities beyond seizures, such as motor dysfunction, cognitive impairment, and neurodevelopmental delays. In some cases, these comorbidities contri...

Abstract Objective: To describe the epidemiological data of women with breast cancer at a referral center in oncology in the northern region of Brazil. Methods: This is a retrospective cohort study. The study populatio...

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

Esraa Basalem,1 Nooran Badeeb1,2 1Department of Ophthalmology, King Fahad Armed Forces Hospital, Ministry of Defense Health Services, Jeddah, Saudi Arabia; 2Department of Surgery, Ophthalmology Division, College of Medic...

Background and aims Mutations in myelin protein zero (MPZ) gene are a known cause of Charcot-Marie-Tooth disease. We describe three relatives carrying a likely pathogenic MPZ variant, exhibiting acute or subacute inflamm...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

IntroductionLung adenocarcinoma remains the most common subtype of non–small cell lung cancer (NSCLC), yet molecular epidemiology and real-world outcomes in Caribbean populations are poorly documented.MethodsWe conduct...