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Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes., Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data., Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies., Conclusion: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

Objective: To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature., Methods: Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses. The cases were identified as part of a study of neural tube defects during that period. A literature search was conducted using MEDLINE., Results: During the 22-year study period, the total number of deliveries was 124,933 out of whom, 4 patients with sirenomelia, and 2 patients with severe forms of CRS were identified. All the patients with sirenomelia had single umbilical artery, and none were the infant of a diabetic mother. One patient was a twin, and another was one of triplets. The 2 patients with CRS were sisters, their mother suffered from type II diabetes mellitus and morbid obesity on insulin, and neither of them had a single umbilical artery. Other associated anomalies with sirenomelia included an absent radius, thumb, and index finger in one patient, Potter's syndrome, abnormal ribs, microphthalmia, congenital heart disease, hypoplastic lungs, and diaphragmatic hernia., Conclusion: The prevalence of sirenomelia (3.2 per 100,000) is high compared with the international prevalence of one per 100,000. Both cases of CRS were infants of type II diabetic mother with poor control, supporting the strong correlation of CRS and maternal diabetes.

Objective: To examine the pattern of thyroid cancer, assess the magnitude of the problem, and evolve a management plan for such malignancies., Methods: This is a retrospective cohort study of all thyroid cases operated at Aseer Central Hospital, Abha, Kingdom of Saudi Arabia, between January 1998 and December 2007. Clinical presentations, management regimens, and recurrence were reviewed., Results: Five hundred and sixteen patients were operated for different thyroid lesions. Ninety-two (17.8%) were malignant (20 males and 72 females). Mean age for males was 41.35 +/- 15.52 years compared to 36.59 +/- 13.28 years for females. Papillary carcinoma constituted 50%, while follicular carcinoma formed only 4.3% of malignant cases. Lymphoma ranked third with only 1.1% of all malignant thyroid lesions. No cases of medullary carcinoma were found. Of 92 patients, 75 reported for follow-up. The recurrence rate for follow-up patients was 29 (31.5%)., Conclusion: High resolution neck ultrasonography and image-guided fine needle aspiration cytology should be considered as routine investigative tools in patients with suspicious thyroid swelling. Total thyroidectomy and removal of all lymph nodes in the central compartment of the neck seem to be the ideal management plan, until such trials emerge. Residual thyroid tissues, following surgery, should be ablated using radioiodine I131 isotope.

Objective: To develop and validate an Arabic allergic rhinitis quality of life questionnaire (AAQQ)., Methods: The study was conducted at the Ear, Nose, and Throat Clinic at the University of Jordan Hospital, Amman, Jordan, from February 2006 to June 2007. A questionnaire was developed from data obtained from 90 patients, and the validation study was conducted on 140 patients. The study was a 5-week observational study. We evaluated the measurement properties necessary for use of the AAQQ in clinical practice, clinical trials, and cross-sectional surveys., Results: The intraclass correlation coefficient for the repeated AAQQ measurements was excellent (0.93), indicating a very high reliability and repeatability of the instrument. Cross-sectional correlations and longitudinal construct validity between the AAQQ and the other measures of health status was close to the priori predictions, and similar to those obtained in the literature for similar scales. The responsiveness index for the AAQQ was high (1.04), and higher than that reported for similar instruments., Conclusion: The results from the validation study provide evidence that the AAQQ has strong discriminative and evaluative measurement properties, and can be used in patient monitoring, cross-sectional surveys, and clinical trials. The AAQQ has the combined advantage of being short, and contains the most important items and domains.

This case report describes a 21-year-old female patient with a complex medical condition of end-stage chronic renal failure and secondary hyperparathyroidism presenting with a history of gradual enlargement of the facial bones over a period of one year. The facial enlargement primarily involves the maxilla causing a bizarre facial and dental deformity. Based on the clinical, radiographic, and laboratory investigations the facial deformity was confirmed as a rare manifestation of renal osteodystrophy presenting as maxillary hyperplasia and hyperostosis cranialis.

Objective: To assess the outcome of patients with hematological malignancies (HM) admitted to medical intensive care unit (MICU) and to identify prognostic factors that may affect patients' outcome., Methods: Data were collected in 44 patients with HM admitted to the MICU at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia within a 9-year period from 1993 to 2004. Demographic, physiological, clinical, laboratory and therapeutic data were collected on admission to MICU., Results: Thirty-four percent of the patients had acute lymphocytic leukemia; 25% had acute myelocytic leukemia (AML) followed by non-Hodgkin's lymphoma in 20%, only 13.6% of these patients were in remission. The reasons for admission of these patients into MICU were shock (34.15%), respiratory failure (31.8%), cardiac arrest (20.4%), neurological causes (9.1%) and for other causes like small bowel perforation, hepatic failure, acute renal failure and metabolic disorders (4.5%). The overall in-hospital mortality was 72.7%, intensive care unit (ICU) mortality 61%, and the mean length of stay in the MICU was 5.4 +/- 4.8 days. A statistically significant association was demonstrated between both remission status and aspartate aminotransferase values on one side and patient's outcome on the other side. Patients with AML had poorer prognosis with mortality rate of 90.9%., Conclusion: Although mortality in patients with HM requiring ICU care is high, our results indicate that critical care support may be lifesaving. Apart from remission status and AML disease, no other prognostic factor could be identified.

A heterotopic pregnancy is the coexistence of one or more ectopic pregnancies and a single or multiple eutopic pregnancies. This potentially fatal condition rarely occurs in spontaneous conception cycles. We report a case of spontaneous triplet heterotopic pregnancy in a multigravida with no known risk factors. Ultrasound imaging was the diagnostic tool used and left salpingectomy via laparotomy was performed in this case report.

Whole lung lavage is still the most effective treatment for pulmonary alveolar proteinosis. We report a 21-year-old male diagnosed with pulmonary alveolar proteinosis by open lung biopsy and who underwent whole lung lavage with a modified technique. He showed significant improvement in clinical and functional parameters. The technique of intermittent double lung ventilation during lavage procedure keeps the oxygen saturation in acceptable limits in patients at risk for severe hypoxemia and allows the procedure to be completed in a single setting.

Objective: Organ transplantation is successful. The main challenge in the Kingdom of Saudi Arabia (KSA) and elsewhere continues to be organ shortage. This shortage was not resolved by utilization of living donors. Previous studies indicate that there is underreporting of brain death cases, lack of completion of documentation process, poor medical care in some instances and finally high refusal rate for consent. In order to put this problem in perspective and find a solution, we initiated a collaborative project between 4 hospitals in Riyadh, KSA and The Saudi Center for Organ Transplantation. The initial result of this project is presented in this article., Methods: A donor team was formed to deal and facilitate the logistical aspect of donation in the 3 main Ministry of Health hospitals in Riyadh. Data with regard to the number of donors reported, documentation and success rate were recorded over 3-months (October 2003 to December 2003) and compared with the preceding 9 months., Results: During the period from January 2003 to September 2003, the total number of case reported to the Saudi Center for Organ Transplantation in Riyadh region, was 94. Only 53% were fully documented. Families were approached in 45 of these 50 cases in terms of donation and consent was obtained in 15. However, the number harvested was only 10 (11% yield from total number reported). During the period from October 2003 until the end of December 2003, the total number of cases reported from 3 hospitals was 19. Seventeen (90%) of them were documented. The families were approached in 16 cases and consent was obtained in 6. All 6 (32%) donors were harvested., Conclusion: The above result clearly indicates that a donor team supporting the intensive care unit (ICU) can improve the donation. It is expected that application of a similar project to more ICUs in KSA will have a substantial positive impact on the rate of organ donation.

Objective: Laparoscopic cholecystectomy is now widely applied in hospitals throughout the Kingdom of Saudi Arabia (KSA). Iatrogenic bile duct injury occurs rarely. It is a serious complication with long term consequences on patients. This paper describes our experience in dealing with this complication and the eventual outcome of the patients., Methods: Between July 1993 and December 1999, 17 patients with high bile duct injury were referred to the Hepatobiliary Unit of King Khalid University Hospital and King Fahad National Guard Hospital, Riyadh, KSA. Their charts were reviewed retrospectively. Once a patient was referred, a clinical evaluation with particular attention to the presence of sepsis was made. The anatomy of biliary duct was then delineated. Corrective surgery was attempted through hepaticojejunostomy. Follow up was at least 3 years in all cases., Results: There were 15 females and 2 males with an average age of 37 years. Eleven patients presented with bile duct injury and 6 had a stricture following an attempted repair. Five patients had Bismuth type E2 injury and the rest were higher (E3, E4, E5). Re-stricture occurred in 7 patients, 3 of them had concomitant arterial injury. All responded to radiological manipulati, Conclusion: High bile duct injury following laparoscopic cholecystectomy is a devastating complication, with a high rate of recurrence after repair. Care of such patient should be carried out in a specialized unit with a strict follow up to try to avoid end stage liver failure requiring liver transplantation.

Objective: Organ transplantation programs have been successful in the Kingdom of Saudi Arabia. This success is limited by organ shortage. The aim of this study is to find out the percentage of actual donors out of all potential donors in intensive care units (ICU), and to look at problems related to the donation process, particularly from the logistical point of view., Methods: The study was conducted prospectively for a one year period, June 2001 through to May 2002, in 4 main Riyadh hospitals. Mortality data was collected by a medical professional in each ICU and analyzed on a weekly basis. Final analysis was made at the end of the year., Results: Five hundred and forty-two deaths occurred in these ICUs. Fifty-four percent occurred in one hospital. The number of brain death cases in all hospitals was 114 cases. Thirty-eight cases were reported to the Saudi Center for Organ Transplantation (33%). Documentation was completed in only 23 cases (60%). In these, there was a significant delay in documentation (second test was carried out in 6-12 hours in 4 cases only)., Conclusion: We have found that the reporting of brain death cases was low (33%). Dealing with the reported cases is inefficient since only 4 cases were able to become the actual donor out of 38 cases. We found also that there is a gross difference in the number of brain death cases among different hospitals. To improve the efficiency of ICUs in dealing with brain death cases (reporting, documentation, maintenance and consent) will require solving several problems at the medical, administrative, and religious and mass media levels.

Objective: Over the past 2 decades, liver transplantation has became the standard treatment of end stage liver disease. Organ shortage has been the main hindrance against the progress of liver transplantation in the Kingdom of Saudi Arabia. This paper reports the status of organ donation for liver transplantation in the Kingdom of Saudi Arabia and highlights the problems and the suggested solutions in relation to organ shortage., Methods: All donors reported to the liver transplant program at the King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from the Saudi Center of Organ Transplantation from January 1994 through to June 1998 was retrospectively analyzed. Clinical and laboratory data were evaluated to decide on the suitability of organs for liver transplantation., Results: Out of 216 donor offers only 100 were harvested and utilized (46%). Out of the remaining 116, 8 donors were declined based on bad clinical and laboratory data and the remaining 36 donors' livers were harvested but not used based on abnormal liver histology. This resulted in discarding more than 50% of the offered donors. The main reasons were related to poor donor maintenance and logistical delay., Conclusion: The number and quality of organs offered for liver transplantation in the Kingdom of Saudi Arabia over the past 6 years has been deteriorating with a negative impact on the liver transplant programs. Adopting new strategies is required to support the donor program in the Kingdom of Saudi Arabia. It is proposed that establishment of donor promotion offices in major hospitals can change the dismal picture of organ donation in the Kingdom of Saudi Arabia even at the current consent rate by better utilization of the available donors.

Objective: The risk of transmitting hepatitis B virus from donors who are positive for hepatitis B core antibody but negative for hepatitis B surface antigen has been a major concern in liver transplantation. In the Kingdom of Saudi Arabia the overall prevalence of hepatitis B core antibody among the general population was reported to be very high indeed. The purpose of this study is to establish the prevalence of hepatitis B core antibody positivity among liver donors who are negative for hepatitis B surface antigen and offered for liver transplantation in the Kingdom of Saudi Arabia., Methods: Hepatitis B serological markers were studied in 145 of 209 donors offered for organ transplantation over a 4-year period in King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia., Results: Out of 145 donors, 51 donors tested positive for hepatitis B core antibody but negative for hepatitis B surface antigen with an over all prevalence of 35.2%. The majority of donors were non-Saudi (75.2%), and predominantly from the Indian subcontinent and Far East. The prevalence of hepatitis B core antibody positive donor was significantly higher in non-Saudi (41.3%) compared with Saudi nationals (16.7%)., Conclusion: In the view of this high prevalence, we believe that all donors considered for liver transplantation in the Kingdom of Saudi Arabia should be tested for hepatitis B core antibody. Furthermore, an algorithmic approach should be developed to minimize the risk of transmitting hepatitis B virus from donors to liver recipients, at the same time not to affect the existing small pool of available donor organs in the Kingdom of Saudi Arabia.

Objective: This study aims to retrospectively analyze the pattern of patients with colorectal cancer seen in King Abdul Aziz Hospital and Oncology Center, Jeddah, Kingdom of Saudi Arabia from January 1992 through to December 1997, with a view to determine various epidemiological and clinopathological features of the disease., Methods: All cases of colorectal cancer presented to King Abdul Aziz Hospital, Jeddah between January 1992 and December 1997 were retrospectively reviewed and the data was analysed to determine age, gender, ethnicity, subsite distribution, clinical presentation, histological type and staging of disease., Results: A total of 160 patients were included in the study, with 78% of them being Saudi Nationals. The male to female ratio was 1:0.8. The mean age was 56.3 + 14.98 years. The peak age of onset was in the 6th and 7th decade. The duration of symptoms varied from one to 24 months with the majority of patients having symptoms for more than 6 months. Sixty-eight point two percent of these patients had primary disease originating from rectum or sigmoid colon, whereas 22.5% of patients had primary disease involving ascending and transverse colon, Anemia was present in 55% of patients. Among the 160 patients, 82.5% of them were histologicaly found to have adenocarcinoma. A total of 38.8% of patients were in stage B and 38.1% of patients were in stage C of Aster-Coller classification. No patients was found to be in stage A., Conclusion: In general, we share many epidemiological features of developing countries for colorectal carcinoma. These included left sided subsite distribution and delayed presentation of the disease in an advanced stage. We stress the significance of public health education and a national screening program regarding colorectal cancer to improve the outcome.