Nabeel S. Bondagji

First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene.

GalNAc-T1, a key candidate of GalNac-transferases genes family that is involved in mucin-type O-linked glycosylation pathway, is expressed in most biological tissues and cell types. Despite the reported association of GalNAc-T1 gene mutations with human disease susceptibility, the comprehensive computational analysis of coding, noncoding and regulatory SNPs, and their functional impacts on protein level, still remains unknown. Therefore, sequence- and structure-based computational tools were employed to screen the entire listed coding SNPs of GalNAc-T1 gene in order to identify and characterize them. Our concordant in silico analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants) from 18 nsSNPs of GalNAc-T1. Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568) were also identified in GalNAc-T1 by using FastSNP tool. Using multiple computational approaches, we have systematically classified the functional mutations in regulatory and coding regions that can modify expression and function of GalNAc-T1 enzyme. These genetic variants can further assist in better understanding the wide range of disease susceptibility associated with the mucin-based cell signalling and pathogenic binding, and may help to develop novel therapeutic elements for associated diseases.

Histopathological patterns of testicular biopsy in male infertility: A retrospective study from a tertiary care center in the western part of Saudi Arabia

Objective: To identify and categorize various pathological changes seen in testicular biopsies of males with infertility and to compare the results with data from other local and international studies. Materials and Methods: All testicular biopsies from males with infertility received by the Pathology Department of King AbdulAziz University Hospital, Jeddah, in the period from January 2004 until May 2010 are reviewed and histopathologically classified into seven categories as follows : Normal spermatogenesis, hypospermatogenesis, germ cell maturation arrest (GCMA), Sertoli cell only syndrome, seminiferous tubule hyalinization, mixed and discordant patterns. Results: One hundred testicular biopsies were identified in the computerized records of the Department of Pathology of King AbdulAziz University Hospital in the studied period. The age ranged from 22 to 70 years with a mean age of 24.5 years. The histopathological patterns were as follows: 14 (14%) cases were reported as normal spermatogenesis;(29, 29%) cases as hypospermatogesis; and 12 (12%) cases were reported as GCMA, mostly at the level of primary spermatocytes. The Sertoli cell only syndrome and the seminiferous tubule hyalinization categories were each reported in 16 cases (16%). Nine cases (9%) showed a mixed pattern. Discordant pattern was seen in 5 (5%) cases. Conclusion: Our study showed that hypospermatogenesis is the commonest pattern in testicular biopsies taken from males with infertility in our region. This study supports the recommendation of bilateral testicular biopsies when investigating male infertility.

Antenatal diagnosis, prevalence and outcome of congenital anomalies of the kidney and urinary tract in Saudi Arabia.

Objective: To study the prevalence, pattern of distribution, and the outcome of different types of kidney and urinary tract anomalies (CAKUT) diagnosed during the antenatal period. The second objective is to test the accuracy of antenatal diagnosis of CAKUT. Materials and Methods: In a cross-sectional hospital-based study, all cases diagnosed antenatally with urinary tract anomalies at King Abdulaziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia, were studied. The prevalence, pattern of distribution, and immediate postnatal outcomes, in addition to the accuracy of antenatal diagnosis, of those cases are reported. Results: One hundred and forty-one cases of urinary tract anomalies were antenatally diagnosed; postnatal diagnosis was confirmed in 128 cases (90.1%). The prevalence of CAKUT in our population is 3.26 per 1000 births. The most common abnormalities detected were hydronephrosis, polycystic kidney disease, multicystic dysplastic kidney, and renal agenesis, in descending order of frequency. The perinatal mortality rate among fetuses with CAKUT is 310 per 1000, the majority of these cases (90%) occurred in cases with renal parenchyma involvement. Conclusions: The prevalence of different types of CAKUT is higher than that reported in developed countries. Urinary tract anomalies can be accurately diagnosed and classified in the antenatal period using ultrasonography imaging. Antenatal diagnosis is a helpful tool in planning immediate postnatal care and deciding the place for delivery. This might prevent or slow renal function deterioration and help in early identification of patients who need early surgical intervention.

Replication of GWAS loci revealed the moderate effect of TNRC6B locus on susceptibility of Saudi women to develop uterine leiomyomas

Uterine leiomyomas (UL) are smooth muscular nodes, whose growth is dependant up on the complex interplay of hormones with genes and uterine physiology. Global statistics indicate the role of ethnic and racial background as contributory factors for UL development. Owing to the lack of data, this study aimed to examine the association between genetic polymorphisms and susceptibility of Arab women of developing UL.

Health rights knowledge among medical school students at King Abdulaziz University, Jeddah, Saudi Arabia

Background Health care is a basic human right, and Saudi Arabia affirms these rights for all its citizens. Objectives To assess the knowledge of medical students regarding health rights in Saudi Arabia. Methods This cross-sectional study was conducted at King Abdulaziz University (KAU) from September 2015 through November 2015. A questionnaire written in English collected demographic data and included questions about reproductive health care and health rights of women and patients with cancer, senility, or special needs. Results Of the 267 participants, 184 (68.9%) were female, and 252 (94.4%) were Saudi. Regarding consent, 87 (32.6%) and 113 (42.3%) participants believed a female patient required the consent of a male guardian to receive medical treatment or surgery, respectively, in Saudi Arabia, and only 106 (39.7%) knew that a female patient could provide consent for a caesarean section. Sixty-six (24.7%) believed that abortion is never allowed in Islam. Only 93 (34.8%) were aware that acquired immunodeficiency syndrome (AIDS) and human immunodeficiency virus (HIV) patients had health rights, about half (144, 53.9%) knew that cancer patients have a right to full information, and most (181, 67.8%) believed that a patient had the right to withhold health information from his/her family. Approximately half were aware that cancer patients have the right to free medical treatment (138, 51.7%) or that health rights applied to special needs patients (137, 51.3%) and senile patients (122, 45.7%). Conclusions The knowledge of KAU medical students regarding health rights of certain patient populations highlights the importance of health rights education in medical school.

Conservative Management of Massive Intraperitoneal Hemorrhage from Corpus Luteum Cyst in a Patient on Anticoagulant Therapy Post Fontan Procedure@@@العلاج التحفظي لنزيف شديد داخل التجويف البريتوني ناتج عن مضاعفات في كيس الجسم الأصفر في المبيض ، لمريضة قد أجريت لها عملية فونتان في القلب

The management of massive hemorrhage from corpus luteum cysts in patients on anticoagulant therapy was practically always surgical with significant morbidity. A case of a massive intraperitoneal hemorrhage from a ruptured corpus luteum cyst that was satisfactorily managed conservatively is reported. A 15-year old girl was diagnosed as having intraperitoneal hemorrhage. She was on anticoagulant therapy for atrial fibrillation that developed after having a Fontan procedure. The decision was made for surgical intervention. During the preoperative assessment the patient became hemodynamically stable, and thus, it was decided to continue conservative management. This is the first case report where a conservative management approach was utilized successfully in a patient who had a Fontan operation. This case illustrates that conservative management may represent a reasonable option in patients who are hemodynamically stable.