BackgroundEndothelial dysfunction is a complication of both obesity and obstructive sleep apnea syndrome (OSAS), the latter being highly prevalent among obese children. It is unknown whether obesity causes endothelial dysfunction in children in the absence of OSAS. This study examines endothelial function in obese and non-obese children without OSAS.MethodsPre-pubertal non-hypertensive children were recruited. Endothelial function was assessed in a morning fasted state, using a modified hyperemic test involving cuff-induced occlusion of the radial and ulnar arteries. The absence of OSAS was confirmed by overnight polysomnography. Anthropometry was also performed.Results55 obese children (mean age 8.6 ± 1.4 years, mean BMI z-score: 2.3 ± 0.3) were compared to 50 non-obese children (mean age 8.0 ± 1.6 years, mean BMI z-score 0.3 ± 0.9). Significant delays to peak capillary reperfusion after occlusion release occurred in obese compared to non-obese children (45.3 ± 21.9 sec vs. 31.5 ± 14.1 sec, p < 0.01), but no differences in the magnitude of hyperemia emerged. Time to peak reperfusion and percentage of body fat were positively correlated (r = 0.365, p < 0.01).ConclusionsOur findings confirm that endothelial dysfunction occurs early in life in obese children, even in the absence of OSAS. Thus, mechanisms underlying endothelial dysfunction in pediatric obesity are operational in the absence of sleep-disordered breathing.
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.
BackgroundThe congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene.Case presentationA 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage.ConclusionsThis case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.
Tobacco cigarette smoking is assumed to be a key reason of death all over the world. Smoking had both severe as well long-lasting effects on hematological constraints. As per the data available from World Health Organization, every year nearly 5 million individuals die around the world due to the diseases triggered by smoking. Cigarette smoking is linked with an elevated risk of cardiovascular diseases. To examine the association between shisha or cigarette smoking and the severity of polycythemia, present study is a cross-sectional organized at King Saud University Medical City during the period from October 2017 to April 2018. Participants were patients who have hemoglobin level above 160 g/L on multiple reading in KSUMC between May 2015-February 2018. The sample size (227 patients) was computed on single proportion formula, Data were collected through questionnaires and from medical record of the patients. A pilot study was conducted to evaluate the validity of the questionnaire. A statistical analysis was performed using SPSS 21.0 version. A p-value of ≤ 0.05 considered as statistically significant. Out of 227 study subjects, 86 (37.8%) were smokers, (61.6%) were cigarette smokers while (29%), shisha smokers. Total (9.3%) were smoking both cigarette and Shisha. 29% patients had high normal hemoglobin between the ranges of (160–168 g/L), 17.6% patients had pre-polycythemic hemoglobin between the range of (169–171 g/L) and 53% patients were having polycythemic hemoglobin (>172 g/L). The hemoglobin level in non-smokers was 168.74 g/L, hemoglobin level in cigarette smokers was170.7 g/L, hemoglobin level in shisha smokers was 171.4 g/L while hemoglobin level in those who smokes both cigarette and shisha was 175 g/L. Smoking has adverse effects on hemoglobin. Shisha or cigarette Smoking is associated with increase in the hemoglobin levels and the severity of polycythemia. The findings may help in raising the awareness of tobacco smokers.
The present study aimed to investigate the effectiveness of blended teaching, based on the e-learning management system "Blackboard", in the development of academic achievement, study skills and self-confidence among the students of Princess Nourah bint Abdulrahman University (PNU). The study sample consisted of (38) female students who were specialized in primary classroom at the University. The participants were randomly selected, where the experimental group was (21) female students who were taught the course of "Science Teaching Strategies" by blended teaching based on the e-learning management system "Blackboard", and the control group was (17) ones who studied the course by the traditional method of teaching. Pre and post tests for academic achievement, the scale of study skills and the scale of self-confidence were applied to the participants. The results showed statistically significant differences at the level of (α ≤ 0.05) between the average scores of the students of the two groups in the academic achievement test in favor of the experimental group. Eta squared (η2) was (0.75) rated very high effect. There were no statistically significant differences in both the degree of university study skills and self-confidence.
Robotic technology has a promising future in surgical field. Robotic-assisted laparoscopy is a newly advance technology which is highly accepted by most of surgeons in various surgical procedures. As the pediatric surgeons adopt and master robotic technique, anesthesiologists familiarized themselves with this technique as well. Robotic surgery required a high-quality of perioperative anesthesia care that is essential for optimizing surgical outcome and patient safety. A retrospective analysis of robotic-assisted surgery for all children under age of 18 years from June 2004 to November 2013 at King Khalid University Hospital was conducted. Data of demographic (age, sex, and weight), type of procedures, operative time, intraoperative and postoperative complications were noted. Seventy robot assisted laparoscopy procedures were performed using the da Vinci surgical system. All procedures except three cases were successfully completed using robot with mean operative time of 110 min. Nissen fundoplication (34 cases) was the commonest robotic surgical procedure performed followed by cholecystectomy, anal-pull through and gastric banding. There were no intraoperative and postoperative complications related to anesthesia. Robotic-assisted laparoscopy is a safe and feasible technique for a variety of pediatric procedures. Our findings suggest that, perioperative anesthesia care should be considered in advance with high anesthetic precautions to maximize patient safety and improve surgical outcome. It is worth to have more studies measuring clinical anesthesia outcome of pediatric robotic surgery.
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.
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