Among 276 paediatric cases of brucellosis seen over a 7-year period, 16 patients (5.8%) with pancytopenia were identified. The most frequent presentations were fever, malaise, anorexia, weight loss, arthralgia, and hepatosplenomegaly. Fourteen patients (87.5%) had positive blood and/or bone marrow cultures for Brucella melitensis. Bone marrow aspiration specimens showed hypercellular-ity in 14 patients and normocellularity in 2. Histiocytes, eosinophils and plasma cells were increased in every marrow aspirate, and haemophagocytosis was observed in 14 patients (87.5%). Non-caseating granulomas were present in the bone marrow biopsy of 11 patients (68.8%). The pancytopenia was transient, and resolved on treatment of the Brucella infection.

BackgroundMutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.Case presentationHere, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.ConclusionsOur data support previous reports in the literature that associate FLNA gene mutation and lung disease.

The occurrence of respiratory syncytial virus (RSV) infection among young children hospitalized with lower respiratory tract illness, at King Khalid University Hospital in Riyadh, was examined during the autumn-winter season between September 1991 and February 1992. Sixty-nine cases were diagnosed by immunofluorescent antibody staining of viral antigen in nasopharyngeal aspirates from 127 children, constituting 54 per cent of these patients. Virus culture was attempted only in a few cases, yielding two isolates. Most children were < 1 year of age (median 2 months). Bronchiolitis and bronchopneumonia were the major diagnoses on admission. Hospitalization was for an average of 5 days (range 1-36 days). Treatment was supportive but most children received antibiotic therapy. There was no mortality. Few other bacterial or viral pathogens could be identified from RSV-positive or -negative patients. These results indicate that, during the season of infection, RSV may be the main pathogen of lower respiratory tract illness in hospitalized young children in this region.

The relationships between cardiorespiratory fitness, daily physical activity, and selected coronary artery disease (CAD) risk factors were evaluated in a sample of 91 preadolescent boys. Cardiorespiratory fitness was assessed (VO2max). Physical activity level was assessed using daytime heart rate telemetry. CAD risk factors included total cholesterol, fasting triglycerides, HDL-cholesterol, LDL-cholesterol, fasting blood glucose, systolic and diastolic blood pressures, and body fat content. The mean value of VO2max exhibited significant negative relationship with body fat percent (r = -0.55). Controlling the effects of age, body mass index and body fat percent resulted in a significant inverse relationship between physical activity and systolic (r = -0.29) and diastolic (r = -0.28) blood pressures. Analysis of data by quartiles revealed significant differences only in body fat percent across fitness categories, while no significant differences were detected in the other CAD risk factors. However, higher HDL-cholesterol and lower triglycerides levels were observed in those boys with higher levels of physical activity. It was concluded that except with body fatness, cardiorespiratory fitness is not strongly associated with lower CAD risk factors, while physical activity level was significantly associated with lower blood pressure level but not with the other CAD risk factors.

Background Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. Methods This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. Results In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m 2 , with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. Conclusion We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.