Evaluation of Epidemiological and Clinical Properties of Kawasaki Disease: A Single Center Experience

WOS: 000436738000003BACKGROUND Kawasaki disease (KD) is a self-limiting vasculitis with unknown etiology. The most feared complication is coronary artery aneurysm. This study aimed to evaluate the epidemiological, laboratory, and clinical properties of Turkish patients with Kawasaki disease. MATERIAL and METHODS This retrospective study included the patients with KD who were diagnosed according to the American Heart Association guidelines. The demographic, clinical, and laboratory results of patients were obtained from the recordings. RESULTS The study included 72 patients with KD. The male/female ratio was 1.4. The mean age of diagnose was 35 +/- 26 months. The most frequent clinical finding was oropharyngeal inflammatory changes (n=64, 89%), and the most rare clinical finding was desquamation in the distal parts of the extremities (n=44, 61%). Coronary artery involvement was detected in 33 (46%) patients, which was higher than the other Asian countries but similar to other studies conducted in Turkey. The most frequently affected vessel was the left coronary artery (n=26, 79%). Coronary artery involvement was higher in males than in females (p<0.05). The clinical type was incomplete KD in 26 (36%) patients. During the study period, the number of the patients per year increased with every passing year. Throughout the study duration of 14 years, the number of newly diagnosed incomplete KD patients increased year by year, (17 patients (65%) were diagnosed in the last 5 years). CONCLUSION The number of patients diagnosed with typical and incomplete KD has been increasing in recent years. Clinicians' awareness regarding KD may be the reason of this increment. Coronary artery disturbances are frequently observed in Turkish population

Bioimpedance for assessing volume status in children with nephrotic syndrome

WOS: 000352482000014PubMed ID: 26084125Background/aim: The effectiveness of assessing volume load via bioimpedance in pediatric patients with nephrotic syndrome (NS) was investigated. Materials and methods: Patients with NS (n = 34) were compared with healthy controls (n = 20). The inferior vena cava index and inferior vena cava collapsibility index (IVCCI) scores were determined for all subjects. Bioimpedance measurements were used to directly determine volume load. Clinical findings, relative fluid load, and echocardiographic measurements were determined and compared with bioimpedance in calculating volume load. Results: The sensitivity and specificity of bioimpedance in determining volume load were found to be 65% and 90%, respectively. IVCCI was lower in NS patients than in controls. There were also significant differences in IVCCI values between patients with localized and generalized edema. Relative fluid load was higher in NS patients with generalized edema as opposed to patients with localized edema. For calculating volume load, the sensitivity of bioimpedance, clinical findings, and echocardiographic measurements was 87%, 95%, and 83%, respectively, whereas the specificity of determining volume load by bioimpedance, clinical findings, and echocardiographic measurements was 50%, 10%, and 80%, respectively. Conclusion: Our data suggest that bioimpedance may be superior to echocardiography in determining volume load in children with NS, because it is cost-effective, reliable, and relatively simple to perform

Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients

WOS: 000309218400024PubMed ID: 22983416Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1 base deletion (148delA) in 2 cases were detected. This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes

Background: To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program. Methods: It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value Results: In 4888 newborns, the mean screening time was 31.5 +/- 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 +/- 1.8%, PI 2.8 +/- 2.0, versus saturation 97.7 +/- 1.8%, PI 2.3 +/- 1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 +/- 6.3) and foot saturations (92.1 +/- 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively. Conclusion: This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country