Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature / 소아과

PURPOSE: Short stature affects approximately 2%–3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. METHODS: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. RESULTS: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. CONCLUSION: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

Diagnosis of exudative pleural effusion using ultrasound guided versus medical thoracoscopic pleural biopsy

Introduction: Medical thoracoscopy increases the diagnostic yield in patients with non-diagnosed pleural effusion when thoracocentesis and closed pleural biopsy [CPB] are non-diagnostic. Chest ultrasound [US] is a very useful imaging method for pleural diseases and the technique of ultra sound-guided cutting biopsy with a tru-cut needle has been well described

Aim of the work: The aim of this work was to diagnose exudative pleural effusion using ultrasound guided versus medical thoracoscopic pleural biopsy

Subjects and methods: Forty patients with, non-diagnosed exudative pleural effusion admitted to the chest department, Alexandria university hospital, were enrolled after obtaining informed consents. All patients were subjected to; full history taking, thorough clinical examination, laboratory investigations including prothrombin activity and INR, biochemical, pathological and microbiological evaluation of the pleural aspirate and radiological evaluation. Then the patients were divided [randomly] into 2 groups each containing 20 patients. Pleural biopsies were performed using medical rigid thoracoscopy on group 1 and ultrasound guided tru-cut pleural biopsy on group 2

Results: The mean age in-group I was 55.0 +/- 13.05 years and in-group II was 52.60 +/- 17.77 years. There was no statistically significant difference between the two groups regarding age, sex, smoking, marital status and past medical conditions. There was no statistically significant difference between the two groups regarding radiological findings. There was no statistically significant difference between the two groups regarding the pleural fluid analysis. There was no statistically significant difference between the two groups regarding the gross pleural findings. In group II non- specific pleurisy was found in 5 [25.0%] patients [by thoracoscopy 1 of them was finally diagnosed as metastatic deposits from adenocarcinoma of unknown primary, one was confirmed to be tuberculous pleurisy and the remaining 3 cases were confirmed to be non- specific pleurisy]. As regards complications in-group I, local wound infection occurred in 1 [5.0%] patient, and empyema occurred in 1 [5.0%] patient. In-group II, local wound infection occurred in 1 [5.0%] patient, and empyema occurred in 1 [5.0%] patient

Conclusion: It is better to use thoracoscopy in cases of undiagnosed exudative pleural effusion presented with a sufficient amount of pleural fluid to avoid lung injury while inserting the trocar. Whereas, ultrasound guided tru-cut pleural biopsy may be used in cases of undiagnosed exudative pleural effusion presented with thickened pleura but with an insufficient amount of pleural fluid

MURCS association: a case report

MURCS association is a rare developmental disorder that affects females. The acronym MURCS stands for Mullerian, Renal, Cervicothoracic Somite abnormalities. It appears to occur randomly [sporadic] with a frequency of 1 in 50.000 females. In this paper, we present a two-year-old girl with typical features of this syndrome in association with right deviation of anorectal canal, subglottic stenosis and unilateral oblique inguinal hernia

Physiological response of rosemary plants to some vitamins

The effect of foliar application of nicotineamide, ascorbic acid and thiamine [25, 50 and 75 mg/l] on vegetative growth and chemical constituents of rosemary plants was studied. Most criteria of vegetative growth were significantly affected by application of the vitamins. Foliar application of nicotineamide to rosemary plants significantly promoted plant height, number of branches and fresh and dry weights of herb. Increasing nicotineamide concentration to 75 mg/l caused increase in the growth of the two cuttings. Ascorbic acid treatments significantly increased plant height, number of branches, fresh and dry weights of herb in both cuttings as well as chemical constituents. The highest recorded results were obtained in plants treated with 75 mg/l ascorbic acid. Foliar application of thiamine to rosemary plants significantly promoted plant growth and chemical constituents of the herb. Increasing thiamine concentration to 50 mg/l caused increase in plant growth, while increasing it to 75 mg/l led to a decrease in the growth parameters in the two cuttings. The GC-MS analysis of essential oil extracted from Rosmarinus officinalis L. plants treated with these vitamins revealed that 1,8 cineole, camphor and bornyl acetate are the major constituents [more than 9%] in all treatments, while alpha-pinene and linalool are also dominant in all treatments, respectively, except the essential oil of plants treated with 25 mg/l [NA] that recorded 4.95% alpha-pinene. Plants treated with 25 mg/l [AA] showed that alpha-bisabolol and alpha- humulene recorded the most dramatic changes and reached their maximum values of 11.31% and 4.85%, respectively, which may be at the expense of 1,8-cineole and linalool which decreased dramatically and showed the least value compared with the other treatments