Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.

Hb F modulates sickle cell disease. Five major haplotypes of the ß-globin gene cluster are associated with sickle cell disease. In the Eastern Province of Saudi Arabia, the Arab-Indian (AI) is most common. Single nucleotide polymorphism (SNP) genotyping (rs3834466, rs28440105, rs10128556, and rs968857) was carried out by nuclease allelic discrimination assay with target-specific forward and reverse primers, TaqMan probes, labeled with VIC and FAM. In 778 patients with sickle cell disease from the Eastern Province, a haplotype was assigned to 90.9% of all samples; 9.1% were classified as compound heterozygotes for the AI and an atypical haplotype. The distribution of haplotypes for 746 Hb S (HBB: c.20A > T) homozygotes was: 614 AI/AI, nine SEN/SEN (Senegal), 42 SEN/AI, nine CAM/CAM (Cameroon), one CAR (Central African Republic)/BEN (Benin), 71 AI/atypical. In Hb S/ß-thalassemia (Hb S/ß-thal), the distribution of Hb S haplotypes was: 22 AI/AI, one CAM/CAM, four AI/SEN, five AI/atypical. Mean Hb F in the haplotypes was: AI/AI 16.6 ± 7.5%, CAM/CAM 8.0 ± 4.1%, SEN/SEN 11.0 ± 5.1%, SEN/AI 15.1 ± 4.6%, AI/atypical 16.2 ± 6.5%. The presence of the SEN and CAM haplotypes was unexpected due to the apparent homogeneity of the population of the Eastern Province. We have successfully classified sickle cell disease haplotypes using the relatively inexpensive TaqMan assay for the first time. In addition, we have previously shown that children with AI haplotype have Hb F of 30.0% and mild disease, while in our cohort of adult AI patients, which might be the largest yet reported, Hb F was about 16.6%.

The attitudes and knowledge of medical students towards surrogacy.

We aimed to evaluate the attitudes and knowledge of medical students' towards surrogacy as a means of assisted reproduction. An online survey was sent to medical students from UK universities, 185 anonymous replies were received. A total of 72.2% agreed with surrogacy as a means of assisted reproduction; 43.9% thought the intended mother was the legal mother at birth; 28.7% correctly identified the surrogate mother as the legal mother; 76.0%felt that the intended mother should be the legal mother at birth; 15.2% thought surrogacy arrangements were enforceable by law; 29.2% correctly knew they were not. There was no difference in knowledge of surrogacy among students who had studied obstetrics and gynaecology compared with those who had not. Medical students were generally tolerant in their attitudes to surrogacy. There were discrepancies between the position of UK law governing surrogacy and the personal views of medical students.

Clinical and genetic aspects of juvenile absence epilepsy.

Fifteen patients aged 11-25 years (mean 15.37, SD 3.89) suffering from juvenile absence epilepsy are presented. Only 3 (20%) had absences (AS) as the only seizure type, 12 (80%) had associated generalized tonic-clinic seizures (GTCS) and in the remaining 3 with absences and GTCS there was also sporadic myoclonus. We found a higher frequency of AS in our patients by clinical history and video-EEG than has been previously reported. In our patients the mean age of onset in years was 11.4, SD 1.24 for AS, 13.12, SD 2.31 for GTCS and 12.5, SD 2.18 for myoclonus. The correct diagnosis was not made on referrals for any of the patients. It took an average of 3-5.5 years from the onset of the AS (range: 6-120 months) and 2 years from the occurrence of GTCS (average: 1-72 months) to make the correct diagnosis and institute proper treatment, which was valproic acid (VPA). The GTCS were controlled in all patients whereas AS continued in 6 (40%), but to a significantly lesser degree. The frequency and the duration of the GTCS before the start of VPA treatment seemed to have an adverse effect on AS control. We documented no circadian rhythm in either AS or the GTCS, except in 2 patients who had AS and GTCS mainly when they awoke in the morning. The sample size was too small to perform a proper genetic study, though a positive history of epilepsies of mixed types was obtained in 35.7% of the parents and the siblings of the probands.

Angiographic patterns of carotid ischemic cerebrovascular disease in Saudi Arabia.

The angiographic findings in 100 Saudi patients with carotid ischemic cerebrovascular disease (CVD) (transient ischemic attacks (TIA) or strokes) were retrospectively reviewed. These patients were representative of all patients with similar disorders in the terms of sex, frequency of diabetes mellitus and ischemic heart disease. They were, however, significantly younger, smoked more, had more cervical bruits and less atrial fibrillation. Analysis of the data showed that a significant stenosis (> 70%) of the carotid artery origin was found only in 12% of TIA cases, 4% in the lacunar infarction cases and 6% of the large infarction cases on the symptomatic side and only in one case of TIA in the asymptomatic side. These frequencies were significantly lower than those found in similar studies performed in western countries. This study suggests that stenoses and occlusions of extracranial carotid artery plays a smaller role in the pathogenesis of ischemic CVD in Saudis than in Caucasians. The low consumption of cigarettes among elderly and females may be one of the explanations.

Bickerstaff brainstem encephalitis. A grave non-demyelinating disease with benign prognosis.

We describe 6 patients with ophthalmoplegia, ataxia and normal or exaggerated deep tendon reflexes. All had been preceded by a febrile illness and had a full recovery without sequelae. The brainstem auditory evoked potentials showed a localised lesion in the upper brainstem while the pattern shift visual evoked potentials were normal and did not show any additional silent lesions. CSF IgG oligoclonal bands were not detected in any of the patients. MRI in 2 patients showed a confluent high intensity lesion in the upper mesencephalon and thalamus involving white and gray matter. Follow-up ranged from 6 to 24 months and showed no relapse.

Pseudotumor cerebri in renal transplant recipients: a diagnostic challenge.

We describe two patients with renal transplants who developed pseudotumor cerebri (PTC) in the course of their follow-up. They illustrate the diagnostic challenge in such situations. Patients with renal transplants usually have many other associated conditions which may lead to headache, visual disturbances or papilledema. A high index of suspicion is necessary for prompt diagnosis and management of this rare and serious but treatable combination.

Absence status: an overlooked cause of acute confusion in hemodialysis patients.

Epileptic seizures are a known complication of uremia, but non-convulsive seizures appear to be rare. We describe a patient with absence status presenting with acute confusion who responded well to intravenous diazepam. Attention is drawn to this rare cause of acute confusional state in the hemodialysis population.

Unusual presentation of tuberculous meningitis.

We present 4 cases of tuberculous meningitis with atypical clinical features and CSF findings. Two patients had initially normal CSF examination, one developed internuclear ophthalmoplegia, while the other had deterioration of consciousness. The third patient presented with paranoid psychosis, and the fourth had a picture mimicking acute bacterial meningitis and he developed right hemianopia due to a tuberculoma detected by MRI. All recovered completely with anti-tuberculous treatment.

The role of seizures in reversible posterior leukoencephalopathy.

We report two hypertensive females, one suffering from chronic renal failure and on regular dialysis, the other with eclampsia. Both developed new onset seizures. The patients' MRI of brain showed signals consistent with the reversible posterior leukoencephalopathy syndrome (RPLES), but with the signals seen only in the hemisphere where the seizures predominated. The anatomic correlation of the clinical and imaging findings supports the notion that seizures have a major role in the genesis and evolution of RPLES.

A unique effect of clonazepam on frontal lobe seizure control.

In a 16-year-old female, clonazepam (CZP) changed randomly occurring intractable tonic seizures of frontal lobe origin to a few sleep seizures when used as an adjunctive therapy. The significance of this change in the seizure pattern is discussed with an explanation of possible pathophysiologic mechanism.

Extraanatomic lateral reconstruction to the popliteal vessels.

OBJECTIVES: To describe the lateral approach to the popliteal artery in reconstructions after soft tissue sarcoma resection in the thigh. DESIGN: Case reports. Subjects Four patients with soft tissue sarcoma. METHODS: Extraanatomic reconstruction of the resected artery and vein in the medial part of the thigh was performed. Vessel reconstruction was performed before tumor resection to avoid leg ischemia. RESULTS: In all four patients the artery was replaced by using the contralateral saphenous vein, while the femoral vein was replaced in two cases using e-PTFE. Post-operative complications included one large lymphatic collection and a deep wound infection. Arterial primary graft patency was 100% after 1-7 years. Patency of the e-PTFE-venous graft was 0% without further consequences. CONCLUSIONS: The extraanatomic lateral replacement of the vessels in the thigh is an elegant method in difficult vascular reconstructions after soft tissue sarcoma resection or debridement for deep vascular infections.

Aminoterminal propeptide of type III procollagen and matrix metalloproteinases-2 and -9 failed to serve as serum markers for abdominal aortic aneurysm.

OBJECTIVES: Matrix-metalloproteinase (MMP)-2 and -9 and aminoterminal propeptide of type III collagen (NIIINP) have been reported to be elevated in patients with abdominal aortic aneurysm (AAA). The aim of our study was to test NIIINP, MMP-2 and -9 as potential serum markers for AAA in a large population group at risk for AAA. METHODS: Fifty-five to 70 year old men were screened for AAA by abdominal ultrasound. Simultaneously, blood samples were taken and the patients were interviewed for known risk factors for AAA. Patients with a dilatation of the infrarenal aorta of > or =25mm (Group 1, n=76) were compared to randomly assigned patients with normal aortic diameters (Group 2, n=83). A third group consisted of patients scheduled for operation of AAA (n=19). RESULTS: A total of 987 men were investigated with ultrasound. Seventy-six (7.7%) had an aortic dilatation > or =25mm. Aortic dilatation was correlated with age (P=0.0001). However, serum levels of NIIINP and MMP 2 were not different between the three groups of patients. For MMP-9 there was a weak inverse correlation with lower serum levels in patients with aortic dilatation (P=0.043). CONCLUSIONS: Both MMP-2 and -9 and NIIINP failed to show relevance as serum markers for aortic dilatation. Our results are, therefore, in contradiction to previous published results. AAAs cannot be diagnosed with a simple blood test.