Mseleni joint disease: A potential model of epigenetic chondrodysplasia

ObjectiveIn this paper past research on the natural history of Mseleni joint disease, a crippling endemic osteoarthritis, its socio-economic impacts, the demographics, diet, geology and the genetic background of affected people are reviewed. In addition, some new research ideas are suggested to continue the search for etiological avenues for this disease such as stable isotope analysis and epigenetic mechanisms.ResultsMseleni joint disease is a chondrodysplasia first described in 1970. It is geographically confined to a remote area in the Maputaland region in northern Kwazulu Natal, South Africa. This disease affects most joints but primarily those of the hip; it is a progressive condition beginning with pain and stiffness until the patient's ability to walk becomes compromised. Mseleni joint disease is characterized by two distinct abnormalities, protrusio acetabuli that mainly affects females and increases in frequency with age, and hip dysplasia that is more frequent with age. Much research has been conducted on the people with the disease and their surrounding environment.ConclusionDespite intensive investigations into the etiology of Mseleni joint disease, it remains unknown. As a result the examination of epigenetic mechanisms and stable isotope analysis of teeth are suggested as a means of providing information on the etiology of the disease. These methods can also be applied to other chondroplasias of unknown etiology.     

Association between inflammatory gene polymorphisms and coronary artery disease in an Indian population

Background Inflammation is one of the major components of atherosclerosis which is the underlying disorder that leads to various diseases including coronary artery disease (CAD). Genes that are involved in the inflammatory processes are therefore good candidates for the risk of CAD. Variations in the genes involved in various molecular pathways of inflammation have been implicated to exaggerated atherosclerosis and the risk of cardiovascular diseases. In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs) present in the genes CD14 (−159 C/T), TNFα (−308 G/A), IL-1α (−889 C/T), IL-6 (−174 G/C), PSMA6 (−8 C/G), and PDE4D (SNP83 T/C, respectively) in order to discern their possible role in the susceptibility to CAD in a North Indian population. Methods Angiographically proven CAD patients (n = 210) and age, sex and ethnically matched normal healthy controls (n = 232) were recruited for this case-control study. Genotypes were determined by PCR–RFLP method. Chi-square and logistic regression analyses were performed to compare the genotype and allele frequencies between the patient and the control groups. Results None of the SNPs showed significant association with CAD in the study population before and after adjustment for the confounding risk factors like age, sex, hypertension, smoking habit, and diabetes. Conclusion This study was unable to demonstrate any association between the six gene variants tested and CAD in the North Indian population.     

An Unusual Case of Bilateral Multifocal Retinal Pigment Epithelial Detachment with Methanol-Induced Optic Neuritis

Purpose

To describe an unusual case of methanol-induced optic neuritis with bilateral multifocal extrafoveal serous retinal pigment epithelial (RPE) detachment.

Methods

Single case report.

Case Report

A 40-year-old male presented with acute bilateral loss of vision and history of consumption of adulterated alcohol. On examination, his vision was perception of light in the right eye and finger counting at 1-ft distance in the left eye. Pupillary reactions were sluggish. The optic discs were normal. An elevated lesion with subretinal serous fluid was present over macula adjacent to superior major vessel arcade in the right eye, which was confirmed as a large extrafoveal RPE detachment on fluorescein angiography. There were two more small RPE detachments in the right eye as well as in the left eye. All RPE detachments were extrafoveal in location. The patient was managed medically with intravenous methylprednisolone (1 g) in 500 ml of ringer lactate for three consecutive days. After three doses, visual acuity of both eyes was recorded as 20/20.

Conclusion

We herein report an unusual case of bilateral multifocal extrafoveal serous RPE detachment in a patient of methanol-induced optic neuritis. RPE detachments may be due to the toxic effect of methanol metabolites.     

Randomized study of intravenous valproate and phenytoin in status epilepticus.

INTRODUCTION: The evidence based data to guide management in patients of benzodiazepine refractory status epilepticus (SE) is still lacking. We conducted a randomized study to evaluate the comparative effect of intravenous (IV) phenytoin and intravenous valproate (IV VA) in patients of benzodiazepine refractory SE. BACKGROUND AND METHODS: Hundred, age and sex matched, patients of benzodiazepine refractory SE were randomly divided into Group A (50 patients), treated with IV VA and Group B (50 patients) treated with IV phenytoin. Twelve patients, in whom SE was not controlled with a single drug, were switched over to the other group. Treatment was considered successful when all motor or EEG seizure activity ceased within 20 min after the beginning of the drug infusion and no return of seizure activity during the next 12h. Secondary study end points were adverse events to treatment, in-hospital complications and the neurological outcome at discharge. RESULTS: In this study, IV VA was successful in 88% and IV phenytoin in 84% (p>0.05) of patients of SE with a significantly better response in patients of SE <2h (p<0.05). The total number of adverse events did not differ significantly between the two groups (p>0.05). There were no differences among the treatments with respect to recurrence after 12-h study period or the outcome at 7 days. CONCLUSION: IV VA is as effective as IV phenytoin. It is easy to use, better tolerated and can be used as an alternative to IV phenytoin in patients of benzodiazepine refractory SE, especially in patients of cardio-respiratory disease. The better outcome in patients having shorter duration of SE (<2h) suggests need of immediate treatment.     

Lactation failure.

Seventy five mothers with lactation failure were studied, whose less than 4-month-old babies were admitted to the hospital. Partial lactational failure (94.7%) was noted more often than complete lactational failure (5.3%). Initiation of breastfeeding was delayed for 2 to 5 days usually for traditional reasons (77.3%) and because the mothers felt that the milk output was inadequate (92%). The various causes of lactation failure were determined and the relationship to various factors was analyzed. The commonest cause of lactation failure was insufficient milk or no milk (80%). The age, parity, education, socio-economic status, religion, family structure and urban vs rural status of mother--all had a bearing on the occurrence of lactation failure. An attempt was made to relactate all these mothers. The outcome was successful in 69.3 cases and failed in only 4% cases. In 26.7% cases, we cannot predict the outcome as the mothers hospital stay was very brief with no follow up.     

Circulating immune complexes in pre-eclampsia.

Serum samples from 20 non-pregnant women, 30 women with normal pregnancy and 50 women with pregnancy associated with pre-eclampsia were tested for circulating immune complexes using the polyethyleneglycol precipitation method. A highly significant positive correlation was found between circulating immune complexes and severe pre-eclampsia (BP greater than 140/90 mm Hg, albuminuria greater than 0.25 g/l). In contrast to this the difference in immune complex levels between non-pregnant subject, normal pregnancy cases and patients with mild pre-eclampsia was not statistically significant. A significant positive correlation was found between the level of circulating immune complexes and the severity of albuminuria. These findings suggest that circulating immune complexes, though not seeming to play an aetiological role in pre-eclampsia may very well be involved in its pathogenesis.     

Internal fixation and muscle pedicle bone grafting in femoral neck fractures

Background:

The treatment of displaced intracapsular femoral neck fracture is still an unsolved problem. Non-union and avascular necrosis are the two main complications of this fracture, especially if patient presents late. Muscle pedicle bone grafting has been advocated to provide additional blood supply. We present analysis of our 32 cases of displaced femoral neck fracture treated by internal fixation and quadratus femoris based muscle pedicle bone grafting.

Materials and Methods:

Open reduction and internal fixation with muscle pedicle grafting was done in 32 patients. The age of patients varied from 14-62 years (average age 45 years) with male to female ratio of 13:3. Twenty-nine fractures were more than three weeks old. All the cases were treated by Meyers'' procedure. The fracture was internally fixed after open reduction and then a muscle pedicle graft was applied. It was supplemented by cancellous bone graft in seven cases. Fixation was done by parallel cancellous lag screws (n = 19), crossed Garden''s screws (n = 7), parallel Asnis screws (n = 5) and Moore''s pin (n = 1).Quadratus femoris muscle pedicle graft was used in 32 cases. In the initial 12 cases the graft was fixed with circumferential proline sutures, but later, to provide a secure fixation, the graft was fixed with a cancellous screw (n = 20). Postoperative full weight bearing was deferred to an average of 10 weeks.

Results:

Union was achieved in 26/29 (89.65%) cases which could be followed for an average period of 3.4 years, (2-8.5 years) with good functional results and had the ability to squat and sit cross-legged. Results were based on hip rating system given by Salvatti and Wilson. The results were excellent in 15 cases, good in four cases, fair in four cases and poor in six cases. Complications were avascular necrosis (n = 2), transient foot drop (n = 2), coxa-vara (n = 1) and temporary loss of scrotal sensation (n = 1).

Conclusion:

Muscle pedicle bone grafting with internal fixation is a viable treatment option in displaced femoral neck fractures with late presentation.