http://hdl.handle.net/123456789/2245 Search the Channel search http://repository.ksu.edu.sa/jspui/simple-search http://hdl.handle.net/123456789/7221 Title: Congenital adrenal hyperplasia Due to 21-hydroxylase deficiency: consequences of delayed diagnosis - can it be prevented?<br/><br/>Authors: AI-Herbish, Abdullah S.; Al-Jurayyan, Nasir A.; Abu Rakr, Abdullah M.; Abdullah, Muhammad A.<br/><br/>Abstract: Abstract Objective: To determine consequences of delayed diagnosis in children with congenital adrenalhyperplasia due to 21 -hydyroxylasc deficiency.Design: Paiicnis arc. drawn from s retrospective cohort study conducted on all patients with congenital adrenalhyperplasia.Setting: Pediatric Endocliine ' 'nit. King Khaliri University Hospital. Riyadh, Saudi Arabia.Results: Sixty-two children wiih 21-hydroxylase deficiency were involved. Twenty-one (33.9%) were males and41 (66.1%) females. Consanguinity was documented in 30 (62.5%), similar disorders in the same family in IS(37.5%). more than one affected child in 12(25%) and neonatal and infant deaths in 22 (45.8%) families. The meanage ut diagnosis was U 6 year (range: 0-8.5) for males and 0.4 year (range; 0-6} for females. Of the total. 57 (92%)were salt losers. All male* except one presented initially with salt-losing crises Ambiguity of Uie genitalia ofvariable degrees was present in all females. This led to wiong sex assignment in 20 i4B.%%). Sexreassignment was rejected for socio-cultural reasons in 7 (35%) precocious puberty and ultimate short stanire werepresent in 5 patients (8.1%).Conclusion: These results indicate mat in the absence of clinical awareness and newborn screening, diagnosis isoften delayed. Physicians* awareness and active measures towards establishing neonatal screening programs areurgently required. Prenatal diagnosis and deAamethasone therapy arc also highly recommended for families at riskto prevent severe virilization in females with this disorder.<br/><br/>Description: Authors: AI-Herbish, Abdullah S., Al-Jurayyan, Nasir A., and Abu Rakr, Abdullah M. From the Endocrine Division, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia http://hdl.handle.net/123456789/3429 Title: Maximal oxygen uptake and daily physical activity in 7- to 12-year- old boys<br/><br/>Authors: Al-Hazzaa, Hazzaa M.; Sulaiman, Mohammed A.<br/><br/>Abstract: The present study examined the relationship between maximal oxygen uptake(V02max) and daily physical activity in a group of 7 to 12-year-old boys.VO:max was assessed through (he incremental treadmill test using an opencircuit system. Physical activity level was obtained from heart rate telemetryoutside of school time for 8 hrs during weekdays and during 40 min -ofphysical educarion classes. The findings indicated that the absolute value ofVO->rnax increased with age, while relative to l>ody weight it Tcmaincd almostthe same across age, with a mean of 48.4 ml • kg 1 • min Moreover, heartrale telemetry showed that the boys spent a limited amount of time onactivities that raise the heart rate to a level above 160 bptn <au average of1.9%). In addition. V(>max was found to be significantly related to thepercentage of time spent at activity levels at or above a heart rate of 140bptn. but not with activity levels at or above a heart rate of 160 bpm. http://hdl.handle.net/123456789/2581 Title: Minimal access surgery in neonates and infants<br/><br/>Authors: Al-Qahtani, Aayed R.; Almaramhi, Hamdi<br/><br/>Abstract: Background: Minimal access surgery (MAS) in small infants carries an important consideration. The tolerance of these small babies and the assumed physiological effect of MAS, in addition to the requiredanesthetic and surgical skills, havemade it difficult to performthese types of procedures inmany internationalcenters. The present article reviews our experience withMAS in neonates and infants in the first year of life. Methods: The medical records of all neonates and infants (b1 year) who underwent MAS over a period of3 years were retrospectively reviewed for demographic information, procedures, operative time, complications, outcomes, and follow-up. Most of the operations were performed with 3-mm instrumentsand scopes and mean insufflation pressure of 10 mm Hg (range, 4-15 mm Hg). Result: Seventy neonates and infants were included in this study: 19 females and 51 males. The weight ranged from 1.3 to 8.2 kg (mean, 4.3 kg). The mean age was 93 days (range, 1 day to 12 months). Twentyfour (34%) were neonates (first 30 days of life). Procedures performed included repair of racheoesophageal fistula, lobectomy, repair of diaphragmatic or hiatus hernias, pull-through for imperforated anus andHirschsprung’s disease, plication of the diaphragm, Kasai procedure, excision of choledochal cyst, pyloromyotomy, Ladd’s procedure, and reduction of intussusceptions. There were 2 conversions, both in neonates with tracheoesophageal fistula. All patients tolerated the procedure very well, with lesser degrees inneonates undergoing thoracoscopic procedures. Two neonates had postoperative hypothermia (b358C) and 1 neonate had high Pco2 postoperatively. There was 1 mortality and no morbidities. The follow-up rangedfrom 1 month to 3 years (mean, 19 months).Conclusion: Minimal access surgery in neonates and infants is safe and well tolerated. Intraoperativemonitoring of end-tidal CO2 and core temperature is essential in avoiding unwanted effects of performingthese procedures, especially in neonates.