Sarcoglycanopathies: a clinico-pathological study.

BACKGROUND: Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders characterized by limb girdle weakness. There are no clear clinical features that distinguish various types of LGMD. MATERIALS AND METHODS: We studied 26 patients with chronic progressive weakness in limb girdle distribution without early facial involvement with muscle biopsies suggestive of dystrophy/myopathy and positive for dystrophin antibodies. Immunohistochemistry studies of muscle biopsies were done on all patients to classify different types of sarcoglycanopathies. RESULTS: The mean age of presentation was in the third decade. There were 14 male and 12 female patients. The common pattern of inheritance was autosomal recessive, seen in 53.8%. The more frequent type of LGMD was sarcoglycanopathy (SGP) (53.8%). Amongst the SGPs, alpha-SGP (26.9%) was the most common followed by beta-SGP (15.3%), gamma-SGP (3.8%) and delta-SGP (7.6%). Calf hypertrophy was noted in 53.5% of LGMD and 57.1% of SGPs, extensor digitorum brevis hypertrophy in 42% of LGMD and 35.7% of SGPs, winging of scapula in 39.2% of the LGMD group and 35.7% of the SGPs, valley sign in 28.5% of the LGMD group and 21.4% of the SGPs. Hip abductor sign was positive in 71.4% of LGMD and 64.2% of SGPs. Differential weakness of knee flexors was more common in SGP (57.1%). The mean creatine phosphokinase (CK) value was 2519IU/L and was elevated in 92.8% patients. Muscle biopsy showed a dystrophic pattern in 75% of LGMD and a myopathic pattern in the remaining. Symptomatic cardiac involvement was seen in one patient. ECG changes were seen in 44% of LGMD patients and 50% of the SGP. The common changes noted were T wave inversion in V1, V2 (16%), left ventricular hypertrophy LVH (12%) and right bundle branch block (RBBB) in 12% of the LGMD group. CONCLUSION: Sarcoglycanopathy is a more frequent form of LGMD whereas alpha type is the most common among the SGP. The four types of SGP do not differ in the pattern of muscle involvement. A relatively earlier onset, selective weakness of knee flexors and a very high CK may help differentiate SGP from other forms of LGMD. Immunohistochemistry is very useful in classifying the different types of LGMD prior to genetic analysis.

Safety and immunogenicity of indigenous recombinant hepatitis B vaccine (Shanvac-B) in comparison with commercially available vaccine.

AIM: To assess the clinical safety, reactogenicity and immunogenicity of an indigenously developed recombinant hepatitis B vaccine (Shanvac-B; Shantha Biotechnics) and to compare it with another commercially available vaccine (Engerix-B, SmithKline Beecham) in healthy adults. METHODS: 120 healthy adults randomLy received 20 micrograms of either Engerix-B (Group A; n = 61) or Shanvac-B (Group B; n = 59) in 0, 1, 2 months schedule. Anti HBs was assessed using commercially available AUSAB kits (Abbott Laboratories) one month after each dose. RESULTS: Protective seroconversion rates after first, second and third dose were 10%, 62.7% and 91.4%, respectively in Group A and 22.4%, 68.9% and 96.4% in Group B, respectively. The geometric mean titer (GMT) after the third dose was significantly high in Group B (419 mIU/mL) than in Group A (140 mIU/mL; p < 0.001). The GMT was significantly higher in women in both the groups. The indigenous vaccine was found to be clinically safe and well tolerated without significant side effects. CONCLUSION: The recombinant hepatitis B vaccine (Shanvac-B) developed in India is safe, well tolerated, and highly immunogenic, with high seroconversion and GMT response.

Spontaneous hemobilia in a hemophiliac treated by factor VIII replacement and nasobiliary drainage.

We report a case of spontaneous hemobilia in a hemophilia patient presenting with classical Sandblom's triad of symptoms. Endoscopic retrograde cholangiography was helpful in establishing the diagnosis. Hemobilia subsided with factor VIII replacement and endoscopic nasobiliary drainage. Endoscopic nasobiliary drainage resulted in lysis of the clots in the biliary tree and relief of obstructive jaundice.

Clinical safety and efficacy of first indigenous recombinant hepatitis B vaccine.

A pilot study was conducted to assess the clinical safety and immunogenicity of an indigenously developed recombinant hepatitis B vaccine (Shanvac B) in 18 healthy adults. 20 microg of vaccine was administered at 0, 1 and 2 months. Protective anti HBs titres developed in 22%, 77% and 100% one month after 1st, 2nd and 3rd dose of vaccination, respectively. The geometric mean titre after the 3rd dose was 1015.29 mIu/ml. The vaccine was well tolerated with minor local and systemic side effects in 28% and 22%, respectively. The indigenously developed recombinant hepatitis B vaccine is safe, well tolerated and highly immunogenic.

Hepatitis in falciparum malaria.

BACKGROUND: Hepatocellular jaundice occurring in patients with falciparum malaria has been called as malarial hepatitis. METHODS: We studied 95 consecutive patients admitted with falciparum malaria. Of these 20 had evidence of malarial hepatitis. Their clinical presentation, complications and response to treatment was compared with that of patients without evidence of malarial hepatitis. RESULTS: The clinical presentation of these patients was not different from those without hepatitis. However, the incidence of complications such as renal failure (60% vs 25%; X2 = 8.47, p < 0.01), Adult Respiratory Distress Syndrome (35% vs 3%; X2 = 18.13, p < 0.001) and septicemia (20% vs 6%; X2 = 4.01, p < 0.05) was significantly higher. The mortality also was higher in the group of patients with malarial hepatitis (40% vs 17%; X2 = 4.85, p < 0.05). CONCLUSIONS: We conclude that the presence of hepatitis in patients with falciparum malaria indicates a more severe illness with a higher incidence of complications and a poor prognosis.

Urgent bedside endoscopic nasobiliary drainage without fluoroscopic monitoring.

Emergency endoscopic nasobiliary drainage was performed successfully in 2 patients with severe cholangitis and septic shock without the help of fluoroscopy because of technical problems in the fluoroscopy units. Definitive procedure was performed after the recovery. Nasobiliary drainage can be performed without fluoroscopic guidance, but should be attempted in exceptional situations.

Intestinal strongyloidiasis--a rare opportunistic infection.

We describe the features of intestinal strongyloidiasis in six patients; five of them were immunosuppressed (four on corticosteroids, one with chronic renal failure). Vomiting and diarrhea were the predominant symptoms. Duodenal mucosa on endoscopy varied from normal to severe ulceration. Albendazole 400 mg/day for two weeks was effective. This condition should be considered in immunosuppressed individuals with gastrointestinal symptoms, especially since these symptoms may be mistakenly attributed to the underlying disease.

Endoscopic treatment of postoperative biliary leak.

External biliary leak is a rare complication of biliary tract surgery. We report six cases in which postoperative biliary-cutaneous fistulae were treated successfully by endoscopic sphincterotomy and endoprosthesis placement. This procedure is safe, associated with minimum morbidity and appears to be a viable alternative to surgery in the management of biliary leaks.

Factors influencing development of portal hypertensive gastropathy in patients with portal hypertension.

Portal hypertensive gastropathy (PGP) is an important cause of bleeding in portal hypertension patients. Although hyperdynamic congestion seems to be the underlying mechanism, the factors that influence the development of PGP are not understood. To investigate these, 107 patients [cirrhosis, 35; noncirrhotic portal fibrosis (NCPF), 24; extrahepatic portal vein obstruction (EHPVO), 46; Budd-Chiari syndrome, 2] were prospectively studied. Eighty-three patients had Child's A, 17 had Child's B, and 7 had Child's C liver disease. Before sclerotherapy, although intravariceal pressure was similar, 4 cirrhosis patients (3.7%) but no NCPF or EHPVO patients had PGP. After sclerotherapy, 21 additional patients (20.3%) developed PGP during a follow-up of 23.2 +/- 3.4 months (range, 1-52). The incidence of PGP was higher in cirrhotic patients (37.1%) than in NCPF (16.7%; P less than 0.05) or EHPVO (8.7%; P less than 0.01) patients. The probability of developing PGP among all patients at the end of 52 months of follow-up was 30%, more in cirrhosis than in EHPVO (55% vs. 15%; P less than 0.005). Only 2 patients bled from PGP during follow-up. Development of PGP correlated with severity of liver disease, being more common in Child's C than Child's A patients (87% vs. 13%; P less than 0.001). PGP was seen more often in patients with gastroesophageal varices than in patients with esophageal varices alone (42% vs. 11%; P less than 0.01). In conclusion, the results show that development of PGP is significantly influenced by sclerotherapy, severity of liver disease, etiology of portal hypertension, coexisting gastric varices and is not directly correlated with intravariceal pressure.