Tuberculosis of temporomandibular joint

Tuberculosis of the temporomandibular joint is a very rare disease. Its close relation to the parotid can cause diagnostic confusion. This case is being reported keeping this point in view.     

Idiopathic extensive spontaneous venous thrombosis (a case report)

Two patients with extensive spontaneous venous thrombosis are reported. Both had documented evidence of polyserositis, transient abnormalities of liver function tests along with normal coagulograms. Although one patient had a short, self-limiting illness, the other required treatment with coumarin derivatives. The relevant literature is discussed.     

Outbreak of kala-azar in Bombay

A chance diagnosis of kala-azar in a patient referred from Acworth Leprosy Home in Bombay was followed up, resulting in an investigation of a total of 25 patients (inpatients and residents) for the presence of the disease. 30.3% of the patients investigated were found to be suffering from the disease. This confirms the earlier suspicion that Bombay and especially the Acworth Leprosy Home is an endemic area for kala-azar.     

Validated chiral liquid chromatographic method for the enantiomeric separation of Pramipexole dihydrochloride monohydrate

A chiral liquid chromatographic method was developed for the enantiomeric resolution of Pramipexole dihydrochloride monohydrate, (S)-2-amino-4,5,6,7-tetra-hydro-6-(propylamino) benzothiazole dihydrochloride monohydrate, a dopamine agonist in bulk drugs. The enantiomers of Pramipexole dihydrochloride monohydrate were resolved on a Chiralpak AD (250 mm x 4.6 mm, 10 microm) column using a mobile phase system containing n-hexane:ethanol:diethylamine (70:30:0.1, v/v/v). The resolution between the enantiomers was found not less than eight. The presence of diethylamine in the mobile phase has played an important role in enhancing chromatographic efficiency and resolution between the enantiomers. The developed method was extensively validated and proved to be robust. The limit of detection and limit of quantification of (R)-enantiomer were found to be 300 and 900 ng/ml, respectively for 20 microl injection volume. The percentage recovery of (R)-enantiomer was ranged from 97.3 to 102.0 in bulk drug samples of Pramipexole dihydrochloride monohydrate. Pramipexole dihydrochloride monohydrate sample solution and mobile phase were found to be stable for at least 48 h. The proposed method was found to be suitable and accurate for the quantitative determination of (R)-enantiomer in bulk drugs.     

Factor VIII and IX gene polymorphisms and carrier analysis in Indian population

The efficacy of the three common intra- and extragenic polymorphic sites of the factor VIII and IX genes has been examined in the Indian population, with an aim to develop a strategy that would be accurate and informative, yet economical. The approach for hemophilia A carrier detection includes tests for Bcll, Xbal, and Taql polymorphic sites for introns 18 and 22 and the extragenic locus St 14, respectively, whereas for hemophilia B, tests include detection of Taql, Ddel, and Hhal polymorphic sites for introns 4 and 1, and the 3′ flanking region of the factor IX gene, respectively. In hemophilia A, the cumulative efficiency of these three polymorphisms has been found to be 100%, since all 37 tested families were informative for at least one of these three polymorphisms. It is of interest to note that a case of recombination between St 14 and the factor VIII gene was also observed. Of the 47 unrelated X chromosomes examined (normal = 10, factor VIII:C deficiency = 37), heterozygosity for Bcll, Xbal, and St 14 was found to be 47%, 36%, and 86%, respectively, in the factor VIII gene. However, when 37 unrelated X chromosomes (normal = 10, factor IX:C = 27) were analyzed for polymorphism with Taql, Ddel, and Hhal, it was found that the polymorphism detection rate was only 18% for the Taql site but 45% each for the Ddel and Hhal sites, in the factor IX gene. This indicates a low effectiveness of the Taql restriction site in carrier analysis of hemophilia B families in our population. Am. J. Hematol. 54:271–275, 1997 © 1997 Wiley-Liss, Inc.     

Aneurysms of an aberrant right subclavian artery: report of two cases

Aneurysm of the aberrant right subclavian artery is rare. We report two patients who underwent successful repair using hypothermic circulatory arrest and retrograde cerebral perfusion. One patient presented with progressive dysphagia to solids and hoarseness of voice due to pressure exerted by the expanding aneurysm, and the second patient, with a dissected subclavian aneurysm, presented with transient ischaemic attacks and a previous cerebral infarct secondary to embolism. Repair in both patients was done through a median sternotomy with femoral arterial and right atrial venous cannulation. Under hypothermic circulatory arrest, the origin of the subclavian aneurysm was divided off the aorta and closed with a Dacron patch from outside the aorta in one patient, and from within the aorta in the other patient. Concomitant revascularisation of the right upper limb was achieved using a 12-mm Hemishield Dacron graft from the ascending aorta to the distal right subclavian artery. The graft to subclavian anastomosis was done under hypothermic circulatory arrest as distal control was not possible. The graft to the aortic anastomosis was done over a side-biting clamp during rewarming. Both patients were successfully treated without major morbidity.     

Spontaneous isolated lesser sac hematoma in a patient with hemophilia.

In patients with hemophilia, hematomas in the mesentery and bowel wall have been described uncommonly. The lesser sac is a rare site of spontaneous hemorrhage even in patients with bleeding diathesis; only a single case of isolated lesser sac hemorrhage has been reported in a hemophiliac patient. We report a similar case with no history of trauma. He recovered with administration of factor VIII concentrate.     

Cytokine profile of sickle cell disease in Oman

The aim of our study was to assess the cytokine profile of sickle cell disease (SCD) patients in steady state and in vaso-occlusive crisis (VOC). VOC has a complex nature, involving interactions between sickle red blood cells (RBC), the endothelium, and leucocytes. Endothelial damage due to recurrent adhesion of sickle RBCs may disrupt endothelial function, leading to altered cytokine release. It is therefore pertinent to study the cytokine profile of SCD patients in steady state and in crisis prior to exploring its contribution to vaso-occlusive manifestations, since it is believed that an altered balance of proinflammatory and anti-inflammatory cytokines plays an important role in painful crisis. Cytokines including IL-1beta, IL-2, IL-4, IL-6, IL-8, TNF-alpha, and IFN-gamma were measured by commercially available ELISA kits in SCD patients (n = 60); in steady state (n = 26) and in painful crisis (n = 34) and compared with nonanemic age- and sex-matched normal Omani controls (n = 20). SCD patients in crisis showed elevated levels of TNF-alpha (P < 0.092) and IL-6 (P < 0.024) when compared with steady state. It was also observed that SCD patients in steady state showed a significant elevation in IL-1beta (P < 0.04), IL-6 (P < 0.0001), and IFN-gamma (P < 0.02) as compared to normal subjects. It is thus evident that both type I and type II cytokines are significantly altered in SCD patients. In steady state, type II proinflammatory cytokines are elevated, whereas in crisis, an additional augmentation of type I cytokines occurs, with persistent elevation of type II cytokines, emphasizing the role of perturbed endothelium and activated monocytes in the pathophysiology of vaso-occlusion in sickle cell crisis.     

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies

Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate‐oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life‐threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR‐1,2,3 assay), revealed that only one patient had X‐linked CGD, with a large deletion involving both the gp91‐phox gene (CYBB) and the McLeod gene (XK). The remaining 13 patients were all homozygotes from a previously described c.579G>A (p.Trp193X) mutation in the NCF1 gene on chromosome 7, responsible for autosomal recessive CGD (AR‐CGD). Although X‐linked CGD is the most common type of CGD disorder in most population groups, AR‐CGD is the most prevalent type in Oman.     

Epsilon-aminocaproic acid inhibits the activity of factor VIII inhibitors in patients with severe haemophilia A in vivo and in vitro

Haemophilia patients with inhibitors pose a formidable challenge for patient management. This is particularly problematic in developing countries, where porcine factor VIII, FEIBA, factor VIIa or immunoadsorption column are generally unavailable or unaffordable. Under these circumstances, any effective modality of affordable treatment is welcome. We investigated, both in vivo and in vitro, the effect of epsilon-aminocaproic acid (EACA) on the inhibitory activity of factor VIII inhibitor. It was found that in vitro EACA (final concentration 1.25-5 mg/ml) substantially inhibited the activity of the inhibitors, while the same concentration of EACA had no effect on other immunological reactions like red cell agglutination and immunofluorescence. The inhibitory action of EACA on factor VIII inhibitor was also confirmed in an improvised antigen-binding ELISA system. Further, the inhibitory activity of EACA was confirmed in 2 patients, in whom the inhibitory activity persisted for 15 min following infusion of EACA (100 mg/kg over 10 min). EACA was found to be even more effective in local wound application in patients of haemophilia A with inhibitors. EACA at the concentration cited did not act as an inhibitor of factor VIII inhibitor through occupancy of lysine binding sites. The inhibitory activity of EACA on factor VIII inhibitor was equally seen with recombinant factor VIII also; hence this action cannot be explained by its antifibrinolytic activity.