Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.

Characteristics of children and adolescents with multidrug-resistant and rifampicin-resistant tuberculosis and their association with treatment outcomes: a systematic review and individual participant data meta-analysis.

Background: There are few data on the treatment of children and adolescents with multidrug-resistant (MDR) or rifampicin-resistant (RR) tuberculosis, especially with more recently available drugs and regimens. We aimed to describe the clinical and treatment characteristics and their associations with treatment outcomes in this susceptible population.

Methods: We conducted a systematic review and individual participant data meta-analysis.

Dynamics of Salmonella Dublin infection and antimicrobial resistance in a dairy herd endemic to salmonellosis.

Salmonella Dublin is a serovar that causes severe infections and cattle. Despite the importance of this agent, research on achieving its elimination from dairy farms is limited, which complicates risk mitigation and control efforts. This study thus aimed to assess the prevalence of S.

A 4-year follow-up of the need for orthodontic treatment using the Dental Aesthetic Index-DAI: an exploratory analysis.

This study aim was to evaluate the need for orthodontic treatment of mixed to permanent dentition using the Dental Aesthetic Index (DAI) in a 4-year follow-up. A longitudinal study was conducted with 353 children in the stages from mixed (T1) to permanent (T2) dentition. The need for orthodontic treatment was assessed using the DAI categorized into: DAI 1 (absence of malocclusion and orthodontic treatment need; DAI ≤ 25); DAI 2 (malocclusion is defined and elective orthodontic treatment is needed; DAI = 26 to 30); DAI 3 (severe malocclusion and a desirable orthodontic treatment need; DAI = 31 to 35) and DAI 4 (severe malocclusion and a mandatory orthodontic treatment need; DAI ≥ 36).

A Case of Severe Lupus and Refractory Anemia.

Systemic lupus erythematosus (SLE) is a multisystemic connective tissue disease with a wide range of clinical and laboratory manifestations. The diagnosis of SLE is often challenging due to the great variability in its presentation, and treatment should be individualized according to the patient's manifestations and affected organs. We present the clinical case of a 25-year-old female who developed SLE with severe hematological and renal involvement as first manifestations, including hemolytic anemia, thrombocytopenia, and nephrotic syndrome.