Mohamed J.Y.,King Faisal Specialist Hospital And Research Center |
Faqeih E.,King Fahad Medical City |
Alsiddiky A.,King Khalid University |
Alshammari M.J.,King Faisal Specialist Hospital And Research Center |
And 3 more authors.
American Journal of Human Genetics | Year: 2013
Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present with other associated anomalies, but the genetics of isolated KFS have been difficult to study because of the syndrome's mostly sporadic occurrence. We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript. Direct sequencing of this gene in two siblings from another consanguineous family affected by isolated KFS uncovered another homozygous truncating (nonsense) MEOX1 mutation that also leads to complete degradation of the transcript. This gene encodes a transcription factor with a well-established and nonredundant role in somite development, and homozygous null alleles of Meox1 in mice have a cervical skeletal defect that is remarkably similar to the one we observe in human individuals with MEOX1 mutations. Our data strongly suggest that KFS is the human phenotypic equivalent of the sclerotome polarity defect that results from Meox1 deficiency in mice. © 2013 The American Society of Human Genetics.
Al-Badr A.,King Fahad Medical City |
Al-Shaikh G.,King Khalid University
Sultan Qaboos University Medical Journal | Year: 2013
Urinary tract infections (UTIs) are one of the most frequent clinical bacterial infections in women, accounting for nearly 25% of all infections. Around 50-60% of women will develop UTIs in their lifetimes. Escherichia coli is the organism that causes UTIs in most patients. Recurrent UTIs (RUTI) are mainly caused by reinfection by the same pathogen. Having frequent sexual intercourse is one of the greatest risk factors for RUTIs. In a subgroup of individuals with coexisting morbid conditions, complicated RUTIs can lead to upper tract infections or urosepsis. Although the initial treatment is antimicrobial therapy, use of different prophylactic regimens and alternative strategies are available to reduce exposure to antibiotics.
Effects of STZ-induced diabetes on the relative weights of kidney, liver and pancreas in albino rats: A comparative study [Efectos de la Diabetes Inducida por STZ en los Pesos Relativos de Riñón, Hígado y Páncreas en Ratas Albinas: Un Estudio Comparativo]
Zafar M.,Baqai Medical University |
Naeem-ul-Hassan Naqvi S.,King Fahad Medical City
International Journal of Morphology | Year: 2010
We studied the effects of streptozotocin (STZ)-induced diabetes on the body weights of animals and the relative weights of kidney, liver and pancreas in albino rats. The aim of the study was to find an association between the reduction in the body weights of diabetic animals and the relative weights of kidney, liver and pancreas in proportion to the body weight of animals in albino rats. This study was performed in the Department of Anatomy and Institute of Pharmaceutical Sciences, Baqai Medical University, Karachi and Pathology department of College of Physicians & Surgeons (CPSP) Pakistan in 2007-08. Diabetes was induced by a single dose of STZ (45 mg/kg, b.w.) given intraperitoneally in sodium citrate buffer at pH 4.5. Eighty albino rats were divided into five groups: control (A) and STZ treated (B, C, D, and E) which were sacrificed 2, 4, 6 and 8 weeks post treatment respectively. All the animals were weighed prior to the administration of streptozotocin and at sacrificial time. Kidney, liver and pancreas were removed, dried and weighed on Sartorius balance. The body weights of animals in different groups changed at variable time intervals. The Kidney weight was significantly increased, liver weight was slightly increased while the weight of pancreas was unaffected when compared with the weight of diabetic animals. It seems that the STZ-induced diabetes causes a significant reduction in the body weight of diabetic animals while the relative weights of kidney and liver were increased and the weight of pancreas was unaffected.
Terkawi A.,University of Virginia |
Romdhane K.,King Fahad Medical City
Saudi Journal of Anaesthesia | Year: 2014
Chronic orchalgia is a frustrating clinical problem for both the patient and the physician. We present a 17-year-old boy with a bilateral idiopathic chronic intractable orchalgia with failed conservative treatment. For 2 years, he suffered from severe attacks of scrotal pain that affected his daily activities and caused frequent absence from school. Ultrasound-guided pulsed radiofrequency ablation (PRF) of the genital branches of the genitofemoral nerve performed after local anesthetic nerve block confirmed the diagnosis and yielded 6 weeks of symptom relief. Seven-month follow-up revealed complete satisfactory analgesia. The use of PRF is an effective and non-invasive approach to treat intractable chronic orchalgia.
Masoodi I.,King Fahad Medical City
BMJ case reports | Year: 2012
Treating a pyogenic liver abscess is a therapeutic challenge when a patient presents with atypical symptoms. One of the rare causes of treatment failure of these abscesses is the unrecognised migration of a foreign body from the gastrointestinal tract. The authors describe a pyogenic liver abscess in a 45-year-old male who presented with a 10 day history of fever, and abdominal pain. A CT scan of the abdomen revealed a needle-like foreign body in the liver. At operation a 2.5 cm fish bone was extracted from the liver. Subsequently, his feverish symptoms disappeared, and he has remained well in the ensuing 3 month postoperative period. Fish bone-induced liver abscess is discussed in this brief report.
Altamimi S.,King Fahad Medical City
Cochrane database of systematic reviews (Online) | Year: 2012
The standard duration of treatment for children with acute group A beta hemolytic streptococcus (GABHS) pharyngitis with oral penicillin is 10 days. Shorter duration antibiotics may have comparable efficacy. To summarize the evidence regarding the efficacy of two to six days of newer oral antibiotics (short duration) compared to 10 days of oral penicillin (standard duration) in treating children with acute GABHS pharyngitis. We searched the Cochrane Central Register of Controlled Trials (CENTRAL 2012, Issue 3) which contains the Cochrane Acute Respiratory Infections Group's Specialized Register, MEDLINE (January 1966 to March week 3, 2012) and EMBASE (January 1990 to April 2012). Randomized controlled trials (RCTs) comparing short duration oral antibiotics to standard duration oral penicillin in children aged 1 to 18 years with acute GABHS pharyngitis. Two review authors scanned the titles and abstracts of retrieved citations and applied the inclusion criteria. We retrieved included studies in full, and extracted data. Two review authors independently assessed trial quality. We included 20 studies with 13,102 cases of acute GABHS pharyngitis. The updated search did not identify any new eligible studies; the majority of studies were at high risk of bias. However, the majority of the results were consistent. Compared to standard duration treatment, the short duration treatment studies had shorter periods of fever (mean difference (MD) -0.30 days, 95% confidence interval (CI) -0.45 to -0.14) and throat soreness (MD -0.50 days, 95% CI -0.78 to -0.22); lower risk of early clinical treatment failure (odds ratio (OR) 0.80, 95% CI 0.67 to 0.94); no significant difference in early bacteriological treatment failure (OR 1.08, 95% CI 0.97 to 1.20) or late clinical recurrence (OR 0.95, 95% CI 0.83 to 1.08). However, the overall risk of late bacteriological recurrence was worse in the short duration treatment studies (OR 1.31, 95% CI 1.16 to 1.48), although no significant differences were found when studies of low dose azithromycin (10 mg/kg) were eliminated (OR 1.06, 95% CI 0.92 to 1.22). Three studies reported long duration complications. Out of 8135 cases of acute GABHS pharyngitis, only six cases in the short duration treatment versus eight in the standard duration treatment developed long-term complications in the form of glomerulonephritis and acute rheumatic fever, with no statistically significant difference (OR 0.53, 95% CI 0.17 to 1.64). Three to six days of oral antibiotics had comparable efficacy compared to the standard duration 10-day course of oral penicillin in treating children with acute GABHS pharyngitis. . In areas where the prevalence of rheumatic heart disease is still high, our results must be interpreted with caution.
Saeed L.H.,King Fahad Medical City |
Mayet A.Y.,King Saud University
International Journal of Medical Sciences | Year: 2013
CYP2C19 is a cytochrome P450 enzyme, which is involved in the metabolism of some clinically important medications and is encoded by a highly polymorphic gene. There is no available data on the distribution of the CYP2C19 *4 and *17 mutant alleles in the Saudi Arabian population. The aim of the study was to determine different CYP2C19 mutant allele (*2, *4 and *17) frequencies in healthy Saudi subjects and to determine genotype frequencies for these mutations. The CYP2C19 genotypes were then classified into phenotypes. Result: In 201 adults of Saudi ethnicity, the allele frequencies were CYP2C19*1 (62.9%), *17 (25.7%), *2 (11.2%) and *4 (0.2%). The most prevalent genotype combinations were CYP2C19 *1/*1 (40.3%) and *1/*17 (30.4%). The distribution of CYP2C19 phenotypes was divided into extensive metabolizers (EM) 77.6%, intermediate metabolizers (IM) 14.9%, ultra-rapid metabolizers (UM) 7% and poor metabolizers (PM) 0.4%. This finding has important clinical implications for the use of CYP2C19 metabolized medications in the Saudi population and further studies are needed. © Ivyspring International Publisher.
Alsayari K.,King Fahad Medical City
Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria | Year: 2011
Gastrocolonic fistula after percutaneous endoscopic gastrostomy (PEG tube) placement is an uncommon but a serious complication of the procedure. These fistulous tracts are often fibrotic and require surgical intervention if the spontaneous closure fails. We describe development of gastroclonic fistula in an old man who presented with history of post feeding diarrhea of 2 weeks duration three months after placement of PEG tube. Successful closure of fistulous tract was documented after local glue injection and hemostatic clips without any complication obviating need of surgery. The patient is on our follow-up for last 8 months now.
Al-Hussaini A.,King Fahad Medical City |
Butzner D.,University of Calgary
Saudi Journal of Gastroenterology | Year: 2012
Background/Aim: We report our experience with the use of octreotide as primary or adjunctive therapy in children with various gastrointestinal disorders. Patients and Methods: A pharmacy database identified patients who received octreotide for gastrointestinal diseases. Indications for octreotide use, dosing, effectiveness, and adverse events were evaluated by chart review. Results: A total of 21 patients (12 males), aged 1 month to 13 years, were evaluated. Eleven received octreotide for massive gastrointestinal bleeding caused by portal hypertension-induced lesions (n=7), typhlitis (1), Meckel's diverticulum (1), and indefinite source (2). Blood transfusion requirements were reduced from 23±9 mL/kg (mean±SD) to 8±15 mL/kg (P<0.01). Four patients with pancreatic pseudocyst and/or ascites received octreotide over 14.0±5.7 days in 2 patients. In 3 children, pancreatic pseudocyst resolved in 12±2 days and pancreatic ascites resolved in 7 days in 2. Three patients with chylothorax received octreotide for 14±7 days with complete resolution in each. Two infants with chronic diarrhea received octreotide over 11±4.2 months. Stool output decreased from 85±21 mL/kg/day to 28±18 mL/kg/day, 3 months after initiation of octreotide. The child with dumping syndrome responded to octreotide in a week. Adverse events developed in 4 patients: Q-T interval prolongation and ventricular fibrillation, hyperglycemia, growth hormone deficiency, and hypertension. Conclusion: Octreotide provides a valuable addition to the therapeutic armamentum of the pediatric gastroenterologist for a wide variety of disorders. Serious adverse events may occur and patients must be closely monitored.
Masoodi I.,King Fahad Medical City
German medical science : GMS e-journal | Year: 2011
Several attempts have been made in the last two decades to investigate ulcerative colitis (UC) patients during the natural course of the disease so as to identify appropriate surrogate markers of disease activity. Most patients with quiescent inflammatory bowel disease have low grade inflammation and it is possible that relapse occurs only once the inflammatory process crosses a critical intensity. Since inflammation is a continuous process, its direct assessment may provide us a quantitative pre-symptomatic measure of imminent relapse. If substantial, it may allow targeted treatment early, to avert relapse or formulate newer therapeutic strategies to maintain symptomatic remission. It is clinically very important to identify these patients at a subclinical stage, noninvasively, by various biomarkers. Biomarkers help to gain an objective measurement of disease activity as symptoms are often subjective. Biomarkers also help to avoid invasive procedures which are often a burden to the patient and the health care system. If an ideal biomarker existed for UC, it would greatly facilitate the work of the gastroenterologist treating these patients. Both "classical" and "emerging" biomarkers of relevance for UC have been studied, but the quest for an ideal biomarker still continues. In this brief review we describe various biomarkers of clinical importance.