Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.     

Smaller cerebral aneurysms producing more extensive subarachnoid hemorrhage following rupture: a radiological investigation and discussion of theoretical determinants

OBJECT: The goal of this study was to determine the relationship between aneurysm size and the volume of subarachnoid hemorrhage (SAH). METHODS: One hundred consecutive patients who presented with acute SAH, which was diagnosed on the basis of a computerized tomography (CT) scan within 24 hours postictus and, subsequently, confirmed to be aneurysmal in origin by catheter angiography, were included in this study. The data were collected prospectively in 32 patients and retrospectively in 68. The volume of SAH on the admission CT scan was scored in a semiquantitative manner from 0 to 30, according to a previously published method. The mean aneurysm size was 8.3 mm (range 1-25 mm). The mean SAH volume score was 15 (range 0-30). Regression analysis revealed that a smaller aneurysm size correlated with a more extensive SAH (r(2) = 0.23, p < 0.0001). Other variables including patient sex and age, intraparenchymal or intraventricular hemorrhage, multiple aneurysms, history of hypertension, and aneurysm location were not statistically associated with a larger volume of SAH. CONCLUSIONS: Smaller cerebral aneurysm size is associated with a larger volume of SAH. The pathophysiological basis for this correlation remains speculative.     

Treatment of giant intracranial aneurysms with saphenous vein extracranial-to-intracranial bypass grafting: indications,operative technique,and results in 29 patients

OBJECTIVE: The treatment of giant intracranial aneurysms is a challenge because of the limitations and difficulty of direct surgical clipping and endovascular coiling. We describe the indications, surgical technique, and complications of saphenous vein extracranial-to-intracranial bypass grafting followed by acute parent vessel occlusion in the management of these difficult lesions. METHODS: Between January 1990 and December 1999, 29 patients with giant intracranial aneurysms underwent 30 saphenous vein bypass grafts followed by immediate parent vessel occlusion. There were 11 men and 18 women with a mean follow-up period of 62 months. Twenty-five patients harbored aneurysms involving the internal carotid artery, 2 had middle cerebral artery aneurysms, and 2 had aneurysms in the basilar artery. Serial cerebral or magnetic resonance angiograms were obtained to assess graft patency and aneurysm obliteration. RESULTS: All 30 aneurysms were excluded from the cerebral circulation, with 28 vein grafts remaining patent. Two patients had graft occlusions: one because of poor runoff and the other because of misplacement of a cranial pin during a bypass procedure on the contralateral side. Other surgical complications included one death from a large cerebral infarction, homonymous hemianopsia from thrombosis of an anterior choroidal artery after internal carotid artery occlusion, and temporary hemiparesis from a presumed perforator thrombosis adjacent to a basilar aneurysm. CONCLUSION: With appropriate attention to surgical technique, a saphenous vein extracranial-to-intracranial bypass followed by acute parent vessel occlusion is a safe and effective method of treating giant intracranial aneurysms. A high rate of graft patency and adequate cerebral blood flow can be achieved. Thrombosis of perforating arteries caused by altered blood flow hemodynamics after parent vessel occlusion may be a continuing source of complications.     

Allopurinol plus pentoxifilline in hepatic ischaemia/reperfusion injury

OBJECTIVES: Ischaemia/reperfusion injury of the liver is the major cause of liver dysfunction and cellular death in transplantation and in liver resection with hepatic pedicle clamping. Many agents are used to prevent this phenomenon, which occurs following interaction of different mediators during both ischaemia and reperfusion. In this study, we aimed to assess the effects of allopurinol, a xanthine oxidase inhibitor, and pentoxifilline, on liver ischaemia/reperfusion injury when used together and to compare these with the effects of using these agents singly. METHODS: Thirty-two rats were divided into four groups consisting of eight rats: Group C, control; Group P, pentoxifilline; Group A, allopurinol; and Group PA, pentoxifilline + allopurinol. Alanine aminotransferase (ALT), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) levels were measured before hepatic pedicle clamping, on the 45th minute of ischaemia and 15 and 45 minutes after reperfusion. Group P rats were injected with 50 mg/kg pentoxifilline, Group A rats 50 mg/kg allopurinol and Group PA rats were injected with both agents 15 minutes before hepatic pedicle clamping. RESULTS: Ischaemia/reperfusion injury was produced by hepatic pedicle clamping, as demonstrated by AST, ALT and LDH increase. Injury prevention occurred in Groups P, A and PA. No significantly different (better) prevention was provided by giving allopurinol plus pentoxifilline to the rats. Furthermore, no difference was observed between the allopurinol and pentoxifilline injected groups in terms of preventing ischaemia/reperfusion injury. CONCLUSIONS: Pretreatment with allopurinol or pentoxifilline resulted in significantly lower hepatic enzyme elevation than that in controls in the rat liver ischaemia/reperfusion model. Using both agents does not provide better protection than using either agent alone.     

Long-term outcome following stent reconstruction of the aortic bifurcation and the role of geometric determinants

We assessed the long-term patency of kissing stent reconstruction of the aortoiliac bifurcation and identified variables that may influence it. We retrospectively reviewed our experience with stent-reconstruction procedures of the aortoiliac bifurcation from January 1998 through June 2005. The impact of demographic variables, vascular risk factors, disease location and characteristics, stent material and design, and stenting configuration on stent patency was assessed using univariate and multivariate analysis. In particular, we evaluated the effect of geometric mismatch between the protruding segment of the stents and the distal aortic lumen. Sixty-six patients underwent aortobi-iliac stent reconstruction. Indications were bifurcation or bilateral proximal iliac disease in 52 patients and unilateral ostial disease requiring contralateral protection in 14 patients. Limited disease (TASC A and B) was present in 40 limbs in 19 patients; extensive/diffuse disease (TASC C and D) was present in 78 limbs in 47 patients. Complete occlusions were present in 37 limbs in 28 patients (bilateral in nine patients). Self-expanding stents were used in 56 procedures and balloon-expandable stents in 10. Crossing configuration was used in 43 procedures, while abutting configuration was used in 23 procedures. Technical success was achieved in 62 patients (94%), with all four failures due to inability to cross a chronically occluded limb. Three of these patients underwent aortomono-iliac stenting with a crossover femoral-femoral bypass graft, with the remaining one opting for no further interventions. Median combined follow-up was 37 +/- 27 months (range 0-102). Hemodynamically significant restenosis developed in nine patients (14%). The management of restenosis was endovascular in eight patients and was successful in all (balloon dilation in four, restenting in three, thrombolysis and stenting in one) and operative in one patient who developed aortic occlusion and underwent aortobifemoral grafting. Survival table analysis showed primary and assisted patency rates at 4 years of 81% and 94%, respectively. The mortality rate during follow-up was 19 (cardiac cause in eight, pulmonary cause in three, and malignancy in five). Univariate analysis showed radial mismatch (aortic lumen dead space around the protruding segment of the stents), female gender, prior occlusion, and residual stenosis to be significant predictors of restenosis. Multivariate logistic regression analysis showed radial mismatch to be the only significant determinant of restenosis, although the statistical power of the model was limited by the small number of restenoses. Stent reconstruction of the aortoiliac bifurcation for occlusive disease is effective and durable, even with complex aortoiliac disease and long segment occlusions. Most restenoses are amenable to endovascular treatment, with excellent long-term assisted patency. Geometric variables related to individual aortic anatomy and disease pattern (patient-dependent) and stenting configuration (operator-dependent) may have an impact on long-term patency.     

Sexual function in women with urinary incontinence

To date limited data exists that addresses the impact of urinary incontinence on sexual function. In the present study, we assessed sexual functions in patients with urinary incontinence and compared with healthy continent subjects by means of Female Sexual Function Index (FSFI) questionnaire. A total of 21 premenopausal incontinent women (three stress incontinence, nine overactive bladder and nine mixed incontinence) were enrolled in the study, and 18 healthy continent subjects served as controls. All subjects were asked to complete FSFI questionnaire and each FSFI domain scores including desire, arousal, lubrication, orgasm, satisfaction and pain were calculated. The mean scores in each domain were compared between the groups. Mean age of subjects with urinary incontinence and controls were 39.5+/-6.6 and 32.6+/-9.1 y, respectively. All domain scores were significantly lower in incontinent women except for pain. Among the incontinence types, no significant difference was determined in all domains of FSFI. Urinary incontinence significantly reduces sexual functions in premenopausal sexually active women.     

Burden, features, and outcome of neurological involvement in acute falciparum malaria in Kenyan children

Context  Plasmodium falciparum appears to have a particular propensity to involve the brain but the burden, risk factors, and full extent of neurological involvement have not been systematically described. Objectives  To determine the incidence and describe the clinical phenotypes and outcomes of neurological involvement in African children with acute falciparum malaria. Design, Setting, and Patients  A review of records of all children younger than 14 years admitted to a Kenyan district hospital with malaria from January 1992 through December 2004. Neurological involvement was defined as convulsive seizures, agitation, prostration, or impaired consciousness or coma. Main Outcome Measures  The incidence, pattern, and outcome of neurological involvement. Results  Of 58 239 children admitted, 19 560 (33.6%) had malaria as the primary clinical diagnosis. Neurological involvement was observed in 9313 children (47.6%) and manifested as seizures (6563/17 517 [37.5%]), agitation (316/11 193 [2.8%]), prostration (3223/15 643 [20.6%]), and impaired consciousness or coma (2129/16 080 [13.2%]). In children younger than 5 years, the mean annual incidence of admissions with malaria was 2694 per 100 000 persons and the incidence of malaria with neurological involvement was 1156 per 100 000 persons. However, readmissions may have led to a 10% overestimate in incidence. Children with neurological involvement were older (median, 26 [interquartile range {IQR}, 15-41] vs 21 [IQR, 10-40] months; P<.001), had a shorter duration of illness (median, 2 [IQR, 1-3] vs 3 [IQR, 2-3] days; P<.001), and a higher geometric mean parasite density (42.0 [95% confidence interval {CI}, 40.0-44.1] vs 30.4 [95% CI, 29.0-31.8] x 10³/µL; P<.001). Factors independently associated with neurological involvement included past history of seizures (adjusted odds ratio [AOR], 3.50; 95% CI, 2.78-4.42), fever lasting 2 days or less (AOR, 2.02; 95% CI, 1.64-2.49), delayed capillary refill time (AOR, 3.66; 95% CI, 2.40-5.56), metabolic acidosis (AOR, 1.55; 95% CI, 1.29-1.87), and hypoglycemia (AOR, 2.11; 95% CI, 1.31-3.37). Mortality was higher in patients with neurological involvement (4.4% [95% CI, 4.2%-5.1%] vs 1.3% [95% CI, 1.1%-1.5%]; P<.001). At discharge, 159 (2.2%) of 7281 patients had neurological deficits. Conclusions  Neurological involvement is common in children in Kenya with acute falciparum malaria, and is associated with metabolic derangements, impaired perfusion, parasitemia, and increased mortality and neurological sequelae. This study suggests that falciparum malaria exposes many African children to brain insults.      

Heterogeneity in amount of growth factors secreted by platelets in platelet-rich plasma samples from alopecia patients

Platelet α-granules release growth factors (GFs) that promote healing and tissue regeneration. Platelet-rich plasma (PRP) is shown to be beneficial in treating alopecia, and however, clinical response can be inconsistent. Due to several fold enrichment of platelets secreting large quantities of GFs following PRP injections, heterogeneity in amounts of GFs secreted by platelets may contribute to inconsistent clinical responses. Herein, we evaluated factors that could potentially contribute to heterogeneous secretion of GFs by platelets. We measured platelet secretion of transforming growth factor beta1 (TGFβ1), platelet-derived growth factor (PDGF-BB), epidermal growth factor (EGF), vascular endothelial growth factor (VEGF) and fibroblast growth factor (FGF2) in aliquots of de-identified PRP samples from female patients undergoing therapy in the hair disease clinic. Although secretion of GFs by platelets was comparable in PRP samples of patients with non-cicatricial and cicatricial alopecia, a Shapiro-Wilk test for normal distribution indicated significant variability across all patient samples. The amount of GF secreted by platelets was comparable when PRP prepared from two FDA-cleared devices with distinct techniques were compared. We provide evidence of platelets secreting heterogeneous amounts of GFs within each sample as high and low secretion of random factors could be simultaneously detected. These results suggest inherent heterogeneity in secretion of GFs by platelets in patient samples that are not influenced by the device used to prepare PRP. Since some GFs could have antagonistic effects on hair growth, a balance between amounts of growth promoting and inhibiting factors may be crucial in determining clinical response to PRP therapy.