Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders

Introduction: Lysosomal storage disorders (LSDs) are rare disorders and pose a diagnostic challenge for clinicians owing to their generalized symptomatology. In this study, we aim to classify LSDs into two broad categories, namely, Gaucher disease (GD) and Niemann–Pick/Niemann–Pick-like diseases (NP/NP-like diseases) based on the morphology of the storage cells in the bone marrow (BM) aspiration smears and trephine biopsy sections. Materials and Method: This retrospective study includes 32 BM specimens morphologically diagnosed as LSDs at our institute, in the last 10 years. Subsequently, they were subclassified into GD and NP/NP-like diseases. Further, we have compared and analyzed the clinical, hematological, and biochemical parameters for the two groups of LSDs. Results: Based on BM morphology, 59.4% (n = 19) cases were diagnosed as NP/NP-like diseases and 40.6% (n = 13) cases as GD. Abdominal distension and failure to thrive were the most common clinical manifestations in both groups of LSDs. Anemia and thrombocytopenia were frequently seen in either of the LSDs. On the assessment of metabolic profile, elevated total/direct bilirubin and liver enzymes were more commonly seen in NP/NP-like diseases when compared with GD. Conclusion: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.

Postcraniofacial trauma multidrug resistant Acinetobacter Baumannii infection treated with intravenous colistin: A rare complication.

Nosocomial meningitis is a rare complication of combined craniofacial and neurosurgical procedures. The increase in meningitis caused by multidrug‑resistant (MDR) Acinetobacter baumannii has resulted in a significant reduction in available treatment options. We report a case of 52‑year‑old man who sustained a complex craniofacial trauma, who developed nosocomial MDR infection caused by A. baumannii in the wound. Patient was at significant risk of developing meningitis but, he was successfully treated with intravenous colistin. To conclude, patients with complex maxillofacial trauma are at high risk of MDR A. baumannii meningitis, especially in craniofacial intensive care units, and adequate infection control measures with proper institution of antibiotics, should be used to reduce the risk of this infection.

Rhizobacterial population density and nitrogen fixation in seagrass community of Gulf of Mannar, India.

Seagrass rhizosphere generally supports high bacterial population density which plays a major role in determining the nutrient cycles of the sea. Higher densities of total heterotrophic bacteria (26.3 ?06 CFU g-1), nitrogen fixing (27.3 ?03 CFUg-1), ammonifying (44.66 X 106 MPN g-1) and nitrifying bacteria (42.33 X 106 MPN g-1 ) have been registered in the seagrass areas than the non seagrass area. In particular, all these rhizosphere microbial population was higher in Thalassia hemprichii. The rates of nitrogen fixation was recorded in the different species of seagrasses such as Enhalus acoroides (1.166 n mol g-1d-1), Halophila ovalis (0.166 n mol g-1d-1), Thalassia hemprichii (18.5 n mol g-1d-1), Cymodocea serrulata (10.5 n mol g-1d-1), Halodule uninervis (5.375 n mol g-1d-1) and Syringodium isoetifolium (0.666 n mol g-1d-1) using gas chromatography. The average nitrogen fixation by the seagrasses of Gulf of Mannar alone was estimated to be 7640.58 n mol m-2 d-1 and the contributions from the rhizosphere microbes will increase the quantity to many fold.

Action of acid chlorides on benzaldehyde di-n-butylacetal at low temperature.

The benzaldehyde di-n-butylacetal has been synthesized and its reactions with acid chlorides, viz., acetylchloride, benzoylchloride, benzylchloride, perchloricacid, sodiumperchlorate, zirconiumoxychloride and calciumoxychloride have been studied at -20oC. The acetal generates esters with acetylchloride, benzoylchloride and perchloricacid while produced ether with benzylchloride, but only aldehyde with sodiumperchlorate. Interestingly, acetal yields substituted aldehyde alone with zirconiumoxychloride and calciumoxychloride. Acid chlorides are synthetically very useful reagents and vary widely in their acceptor synthon character and reactivity; hence their application in the present work on the action of acid chlorides on benzaldehyde di-n-butylacetal is a new venture.

Pediatric and neonatal tetanus: a hospital based study at eastern Nepal.

A prospective hospital based study of childhood (<15 yrs) and neonatal tetanus cases from July 2004 - May 2006 was done to study the demography, clinical features and outcome of pediatric and neonatal tetanus cases at BPKIHS. During the study, 24 cases of tetanus were admitted from 9 districts including 5 neonatal tetanus. Among children with tetanus, 31.5% received 3 doses of DPT and 10.5% received TT vaccine as tetanus prophylaxis. In 16.0% children there was no recognizable injury preceding the disease. Otitis media preceded tetanus in 16.0%. All neonatal tetanus cases occurred following umbilical sepsis. Despite their mothers receiving 2 doses of TT during pregnancy, 2 neonates developed tetanus. A neonate delivered in hospital also developed neonatal tetanus. Average incubation period was 7.7 days and average onset time was 16.9 hours. Short onset time predicted the favorable outcome (p=0.005). Generalized tetanus cases were 75.0%, neonatal tetanus 21.0% and cephalic tetanus 4.0%. Generalized spasm was present in all cases. Common autonomic dysfunctions were fever, tachycardia and hypotension. Respiratory failure, aspiration pneumonia, rhabdomyolysis and seizure were common complications. Only one case received Intensive Care Unit (ICU) care. Survival rate was 21.1% for childhood tetanus and 40.0% for neonatal tetanus. Respiratory failure was the cause of death in majority. Study finds tetanus as an important disease in eastern Nepal, with substantial morbidity and mortality, primarily affecting the unvaccinated and inadequately vaccinated individuals. Despite lack of adequate resources, we can still manage tetanus cases with comparable outcome to other case series reported in the literatures.

Clinico-laboratory profile of haemolytic uremic syndrome.

OBJECTIVE: To study the clinical profile, the spectrum of functional abnormalities, prognostic factors and outcome of children with haemolytic uremic syndrome (HUS). MATERIALS AND METHODS: This is a prospective, descriptive, single centre, cohort study, conducted on 42 children during the period of January 2004 to January 2005. RESULTS: The maximum numbers of cases were below 24 months of age with mean age of 26.6 months and male: female ratio of 2.8:1. Most of the cases (79%) occurred in the warmer months (April-September). The common clinical presentations were bloody diarrhoea, pallor, oliguria & anuria, fever, vomiting, abdominal distension and pain, involvement of central nervous system, chest and cardiovascular system and bleeding manifestations. The common haematological abnormalities were leucocytosis, thrombocytopenia, anaemia and features of haemolysis in the peripheral blood. Electrolyte abnormalities observed were in the form of hyponatremia, hypokalemia and hyperkalemia. Arterial blood gas analysis showed metabolic acidosis in 64% cases, where the estimations were done. The mean blood urea and serum creatinine levels were 113.7 mg/dL and 2.5 mg/dL, respectively. Stool examination showed blood in all cases. Urine examination showed microscopic haematuria and significant proteinuria in 74% and 38% cases, respectively. E. coli and Shigella were isolated in stool in three cases each and one case showed mixed growth of E. coli and Salmonella. The mortality rate was 21%. Significantly higher mortality was observed in females, patients presenting with complete anuria, leucocytosis, hyperkalemia and systemic involvement like central nervous system, cardio vascular system and chest. CONCLUSIONS: Female sex, complete anuria, leucocytosis, extra renal involvement and hyperkalemia were associated with poor outcome.

Cardiovascular risk factors in tobacco-chewers: a controlled study.

BACKGROUND : Influence of habitual tobacco chewing on cardiovascular risk has not been well studied. To determine prevalence of major cardiovascular risk factors in subjects who habitually chew tobacco we performed a controlled study. METHODS : A population based case-control study was performed in Bikaner in North-western India where the prevalence of tobacco-chewing is high. Successive 200 subjects who agreed to participate in the evaluation and had a history of isolated tobacco-chewing (range 10-60 years) were enrolled (Group III). The prevalence of major coronary risk factors- obesity, truncal obesity, hypertension, fasting hyperglycemia, and lipid levels were estimated using current guidelines. Electrocardiogram was also performed in all subjects. Chest radiography and treadmill stress test was done in subjects when indicated by symptoms. 200 age- and gender-matched controls who did not use tobacco in any form (Group I) and 200 subjects who had history of smoking bidis or cigarettes for more than 10 years (range 10-55 years) (Group II) were also evaluated. RESULTS: The body-mass index and obesity were lowest in smoker group. Tobacco chewers had a significantly higher (p<0.001) systolic blood pressure (BP), diastolic BP, resting heart rate, total cholesterol, LDL cholesterol and triglycerides as compared to controls and was similar to smoker group. There was a significantly greater (p<0.01) prevalence of hypertension, hypercholesterolemia, hypertriglyceridemia, radiographic cardiomegaly and positive stress test in Group III as compared to controls. Prevalence of these risk factors was similar among Group II and Group III subjects. HDL cholesterol levels were the lowest in tobacco-chewing group (44.3+/-8.1 mg/dl) as compared to the Group I (48.4+/-7.8) and Group II (47.4+/-7.5) (p<0.001). CONCLUSIONS : There is a significantly greater prevalence of multiple cardiovascular risk factors obesity, resting tachycardia, hypertension, high total and LDL cholesterol, and low HDL cholesterol, and electrocardiographic changes in tobacco users, chewing or smoking, as compared-to tobacco non-users. Chewing tobacco is associated with similar cardiovascular risk as smoking.

Prevalence of rheumatic heart disease in school children in Bikaner: an echocardiographic study.

OBJECTIVE: To determine prevalence of rheumatic heart disease (RHD) using clinical and echocardiographic criteria and to study influence of socioeconomic status (SES) we studied school children in a north-western Indian town. METHODS: 3292 school children, age range 5-14 years, in two private schools, ten middle SES government schools and six low SES government schools were invited to participate in the study. 3002 (1837 boys, 1165 girls) were clinically examined (response 91%) of which 1042 were in private schools, 1002 in middle SES schools and 958 in low SES schools. Prevalence of cardiac murmurs and RHD based on clinical diagnosis was determined in school by a trained team of physicians. Those with a murmur were further evaluated by Doppler-echocardiography in the hospital. Group-specific and age-specific rates (prevalence/thousand) of murmurs and cardiac lesions were determined. RESULTS: A significant cardiac murmur was observed in 55 subjects (18.3/1000) with similar prevalence in boys (20.7) and girls (14.6). The prevalence of murmur was significantly greater in children belonging to low SES schools (29.2/1000) as compared to middle SES (18.9) and higher SES schools (7.6). RHD prevalence based on clinical diagnosis was observed in 50 children (16.7/1000) and was similar in boys (19.1) and girls (12.9). Clinical RHD was more in the low SES school children (28.2/1000) as compared to middle (17.0) and high SES schools (5.8). RHD was demonstrated on echocardiography in 2 children (0.67/1000). Other prevalent cardiac lesions were congenital heart disease in 5 (1.66/1000) and mitral valve prolapse in 37 (12.3/1000). CONCLUSIONS: There is a low prevalence of RHD in school children in this region compared to previous Indian studies. Cardiac murmurs are more prevalent among low SES children.