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Abstract Background Rifampicin-resistant tuberculosis (RR-TB) remains a major challenge for TB control in Malawi, particularly in densely populated districts such as Blantyre. Most rifampicin resistance is caused by muta...

Abstract Human Immunodeficiency Virus / Acquired Immunodeficiency Syndrome (HIV/AIDS) is a major public health problem affecting an estimated 38.4 million people globally, with 54% of them being from the Eastern and Sou...

The population of early-onset Alzheimer’s disease (EOAD) accounts for 1%–2% of the total population of Alzheimer’s disease, and genetic mutations are more common in EOAD. The first symptom of the patient in the pre...

Abstract Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of prematu...

Background Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English S...

ABSTRACT Background Familial narcolepsy in dogs has been associated with mutations in the HCRTR2 gene in Labrador retrievers, dachshunds, and Doberman pinschers, with the causal mutation differing between breeds. Objecti...

Abstract Background Holter electrocardiographic monitoring is a cornerstone of diagnostic testing for arrhythmogenic cardiomyopathy (ACM) in Boxer dogs, but physical activity during monitoring is not controlled. In human...

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to fu...

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who...

"In this paper, we analyze the effect of reducing object redundancy in random testing, by comparing the Randoop random testing tool with a version of the tool that disregards tests that only produce objects that have bee...

Abstract Background Lynch syndrome (LS) is a common hereditary cancer predisposition syndrome caused by pathogenic germline mutations in MMR genes. This study aimed to conduct LS screening in a South Chinese Endometrial ...

Abstract Background High-throughput sequencing (HTS) enables the detection of low-frequency HIV-1 drug resistance mutations (DRMs) that are often missed by conventional Sanger sequencing. However, the clinical implementa...

Resumen: Las mutaciones germinales en genes de predisposición al cáncer han dejado de ser una información sólo asociada al riesgo de cáncer hereditario, en la actualidad se han convertido en un verdadero motor de ca...

Abstract Background Growing evidence from dogs and humans supports the abundance of mutation‐based biomarkers in tumors of dogs. Increasing the use of clinical genomic diagnostic testing now provides another powerful d...

ABSTRACT Background Major genetic risk loci and causative mutations classified as LPN1 (Leonberger polyneuropathy type 1), LPN2 (Leonberger polyneuropathy type 2), and LPPN3 (Laryngeal paralysis polyneuropathy type 3) ha...

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...

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...

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...

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...

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...