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.

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.

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.

Present status of infrainguinal arterial bypass procedures following an all autogenous policy--long-term results of a single center.

OBJECTIVES: The direction of vein grafts for infrainguinal arterial reconstruction is controversial. Long-term results of a single center following an all autogenous tissue policy in infrainguinal arterial reconstruction are reported with special attention to possible advantages for the in situ and non-reversed bypass using angioscopy. METHODS: From 10/88 until 12/00 540 bypasses with autogenous veins were performed on 497 patients. Veins were used in a non-reversed or in-situ direction, valve disruption was performed under angioscopic control. All grafts were prospectively included in our data base and follow-up was scheduled in our vascular lab before discharge and after 3, 6, 9, 12, 24 etc. months. RESULTS: Primary patency of all bypasses after 108 months was 55.2%, primary assisted 76.9% (SE +/- 9.87), survival 58.4% (SE +/- 8.88) and limb salvage 81.3% (SE +/- 9.75). Perioperative mortality was 0.9% (5 pat). Patency rates (primary assisted patency) after 72 months were 81.7% (98.2%) for supragenicular, 61.5% (79.4%) for infragenicular and 56.6% (78.1%) for tibial anastomoses and for pedal reconstructions after 48 months 49.3% (68.6%). CONCLUSION: Reviewing the literature neither the in situ and non-reversed nor the reversed grafts yielded better long-term results. Absence of size mismatch may be an advantage in smaller veins. Angioscopy may detect unsuspected vein disease.

Infrainguinal arterial reconstruction: female gender as risk factor for outcome.

OBJECTIVES: the effect of gender on the long-term results of infrainguinal arterial reconstruction are poorly investigated. METHODS: all patients undergoing infrainguinal arterial reconstruction with an autogenous vein are as 11 years period was prospectively evaluated. RESULTS: four hundred and fifty reconstructions (292 man, 160 women) were performed as on 416 patients. Thirty-day mortality was 1.1% (n=5). Women were on average older (74 vs 68; p<0.001) and disease was more advanced (81 vs 68%,p =0.013 with stage of critical ischaemia). Primary (58 vs 61%) and primary assisted patency rates (82 vs 84%) were comparable. Limb salvage and survival after 60 months were not different. On multivariate analysis age and stage of the disease were independent variables for patency and survival. Diabetes and gender reached statistical significance as predictors of limb salvage only. CONCLUSION: age and stage of the disease were independent predictors for patency and survival, diabetes and gender for limb salvage.

The controversy of birth order as a risk factor for epilepsy: a study from Saudi Arabia.

PURPOSE: To evaluate the relationship between people with epilepsy and birth order. METHODS: A case-control study of 336 epileptics, 15 years and above, and their 1961 full siblings. The data was analysed by birth order and then stratified by sibship size. The 95% confidence interval (CI) for each odds ratio (OR) was obtained. ORs were calculated in the 259 probands in whom the seizure and epileptic syndrome were classifiable against their corresponding 1313 siblings. RESULTS: The OR in birth order 1 is 2.08 (1.6-2.8) on comparing probands to their unaffected siblings. In birth order 3 the OR was 1.64 (1.2-2.2) and ORs declined as birth order increased. The chi-square test for the decline was significant P < 0.05. OR in birth >2 in probands against unaffected sibs was 0.42 (0.2-0.62) in partial seizures and 0.27 (0.17-0.43) in the cryptogenic category, 86% of whom had partial seizures. CONCLUSION: In spite of some limitations in the study it seemed that there is a significant association between low birth order and the risk of epilepsy when all cases were computed together. The cryptogenic type showed the clearest association between low birth order and the likelihood of epilepsy.

Extensive radiculopathy: a manifestation of intracranial hypertension.

We report two patients with severe radiculopathy due to elevated intracranial pressure (ICP) resulting from idiopathic intracranial hypertension (IHH) in one, and cerebral venous sinus thrombosis (CVT) in the other. Our aim is to document this unique association, which escaped diagnosis in both patients.

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.

Late epileptic seizures after cerebral infarction.

OBJECTIVES: To determine the profile of late epileptic seizures following cerebral infarcts and the predictive clinical and radiological factors associated with their development. METHODS: We compared 86 patients who developed late seizures after cerebral infarction with 285 similar patients who did not develop seizures for at least 1 year after their stroke. Patients who had seizures only at the onset of the stroke were excluded. Odds' ratios were used for statistical analysis. RESULTS: Simple partial, and mainly motor seizures, with or without secondary generalization, accounted for 80% of the classifiable seizures but it was not possible to determine the seizure type in half of the cases. Factors that appeared to be predictive of seizure development were the presence of large cortical infarcts and the presence of apparently preserved cerebral tissue within the infarcted area. Seizures were rare in patients with lacunar infarction but the presence of associated leukoaraiosis increased the risk. The risk was also increased in patients with other medical problems known to lower seizure threshold, such as renal failure.

Atypical brachial plexopathy with pseudotumor cerebri.

A 24-year-old woman with previously known pseudotumor cerebri syndrome (PTCS) presented with severe pain in the neck and shoulders followed by the classical symptoms and signs of bilateral brachial neuritis. At the same time, there was a recurrence of the PTCS which had been in remission for more than one-and-a-half years. Despite treatment with high doses of methylprednisolone, intravenous immunoglobulins and repeated cerebrospinal fluid drainage, both brachial plexopathy and the PTCS continued to worsen. Both lumbosacral plexuses became involved and the visual acuity deteriorated to a level such that a lumboperitoneal shunt had to be inserted. The neurological condition started to improve progressively after 8 weeks. This case is, to our knowledge, the first where brachial plexopathy has been described in association with a PTCS. Although the pathogenesis of this association is not clear, there are enough data to suggest the existence of a continuum between extended brachial plexopathy and Guillain Barre syndrome, with which PTCS has been associated in some instances.

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.

Nontraumatic cerebral hemorrhage in the young: a study of 107 cases.

BACKGROUND: Reports on intracerebral hemorrhage (ICH) in the young are rare, and information on the cause and prognosis of ICH in this age-group is sparse. METHODS: All cases of ICH admitted to three major hospitals in Saudi Arabia over a 15-year period were retrospectively reviewed. Patients aged between 6 months and 45 years at stroke onset were studied. Pooling of our data with those published from other centers was used for final analysis. RESULTS: One hundred seven cases (69 male, 38 female), including 12 children younger than 10, were analyzed. The causes of hemorrhage were as follows: arteriovenous malformations (AVMs), 23%; systemic hypertension, 20%; blood dyscrasias, 16%; berry aneurysms, 8%; other causes, 7%. No cause was found in 26%. Sixty-two percent of the ICHs were lobar and 3% multiple. Early death rate was high (27%). Twelve percent of the patients were lost to follow-up, and only 26% returned to a state of complete autonomy. CONCLUSION: The pooling of the causative data from our cases and the 253 others reported in the literature showed that even before 45 years of age systemic hypertension is the leading cause of ICH. It accounts for approximately 30% of the cases, with AVMs (20%) being next. The pooled overall early mortality rate is approximately 20%, and only one third of the patients return to independent living.

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.