GM2 gangliosidoses: A review of cases confirmed by β-N-acetylhexosaminidase assay

The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve celis. The majority of the patients are infants with the Tay-Sachs from of the disease associated with a severe deficiency of β-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease. The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.     

Lipoprotein lipase deficiency

A rare case of a 3 month old child with lipoprotein lipase deficiency who presented with bronchopneumonia is reported. After noticing lipaemic serum and lipaemia retinalis, a diagnosis of hyperlipoproteinaemia was considered. Lipoprotein lipase deficiency was confirmed with post heparin lipoprotein lipase enzyme activity estimation.     

Type Ib glycogenosis

Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lacticacidemia which decreased sharply on glucose administration.     

Influence of maternal and socioeconomic factors on breast milk fatty acid composition in urban,low‐income families

The lipid composition of breast milk may have a significant impact on early infant growth and cognitive development. Comprehensive breast milk data is lacking from low‐income populations in the Indian subcontinent impeding assessment of deficiencies and limiting development of maternal nutritional interventions. A single breast milk specimen was collected within 6 weeks postpartum from two low‐income maternal cohorts of exclusively breastfed infants, from Dhaka, Bangladesh (n = 683) and Kolkata, India (n = 372) and assayed for percentage composition of 26 fatty acids. Mature milk (>15 days) in Dhaka (n = 99) compared to Kolkata (n = 372) was higher in total saturated fatty acid (SFA; mean 48% vs. 44%) and disproportionately lower in ω3‐polyunsaturated fatty acid (PUFA), hence the ω6‐ and ω3‐PUFA ratio in Dhaka were almost double the value in Kolkata. In both sites, after adjusting for days of lactation, increased maternal education was associated with decreased SFA and PUFA, and increasing birth order or total pregnancies was associated with decreasing ω6‐PUFA or ω3‐PUFA by a factor of 0.95 for each birth and pregnancy. In Dhaka, household prosperity was associated with decreased SFA and PUFA and increased ω6‐ and ω3‐PUFA. Maternal height was associated with increased SFA and PUFA in Kolkata (1% increase per 1 cm), but body mass index showed no independent association with either ratio in either cohort. In summary, the socioeconomic factors of maternal education and household prosperity were associated with breast milk composition, although prosperity may only be important in higher cost of living communities. Associated maternal biological factors were height and infant birth order, but not adiposity. Further study is needed to elucidate the underlying mechanisms of these effects.     

Evaluation of the significance of “redistribution” in I-123 IMP SPECT in cerebrovascular disorders—a comparative study with PET

We evaluated the significance of redistribution in¹²³I-IMP SPECT study using PET. Twelve lesions in ten patients were selected. These lesions were classified into the following three groups; ischemia, infarction of subacute phase and infarction of chronic phase. All lesions with ischemia or subacute infarction showed good or moderate redistribution. Three of four lesions with chronic infarction showed no redistribution. The mean values of rCBF and rCMRO₂ were highest in the lesions with good redistribution, but there was no differences in rOEF with the degree of redistribution. In conclusion, the tissue with good redistribution is not always viable and it was impossible to predict a region with increased rOEF by redistribution alone.This article was presented at the 1st EEC workshop on accuracy determination in PET, January 19–20th. 1989 Pisa, Italy (COMAC-BME Concerted Project Characterization and Standardization of PET Instrumentation)     

Differentiation between benign and malignant disease of the breast using digital subtraction angiography of the breast

The authors have investigated digital subtraction angiography (DSA) for the differential diagnosis of breast lesions detected initially by mammography. Eighteen patients scheduled for biopsy first underwent digital subtraction angiography of the breast (DSAB). Criteria for malignancy included the presence of abnormal vessels and a "blush" in the area of the lesion. A total of 17 lesions are currently available for histopathologic correlation. Although this is a small series, the initial results of DSAB suggest its potential utility for differentiating between benign and malignant lesions.     

Streptococcus pneumoniae Acquisition and Carriage in Vaccine Naïve Indian Children with HIV and their Parents: A Longitudinal Household Study

Indian Journal of Pediatrics - To investigate the difference in pneumococcal carriage, acquisition, antibiotic resistance profiles and serotype distribution, in human immunodeficiency virus (HIV)...     

Risk factors for thirty-day morbidity and mortality after spinal trauma

Background

Traumatic Spinal Injuries (TSI) often follow high velocity injuries and frequently accompanied by polytrauma. While most studies have focussed on outcomes of spinal cord injuries, the incidence and risk factors that predict morbidity and mortality after TSI has not been well-defined.

Methods

Data of consecutive patients of TSI (n = 2065) treated over a 5-year-period were evaluated for demographics, injury mechanisms, neurological status, associated injuries, timing of surgery and co-morbidities. The thirty-day incidence and risk factors for complications, length of stay and mortality were analysed.

Results

The incidence of spinal trauma was 6.2%. Associated injuries were seen in 49.7% (n = 1028), and 33.5% (n = 692) patients had comorbidities. The 30-day mortality was 0.73% (n = 15). Associated chest injuries (p = 0.0001), cervical spine injury (p = 0.0001), ASIA-A neurology (p < 0.01) and ankylosing spondylitis (p = 0.01) correlated with higher mortality. Peri-operative morbidity was noted in 571 patients (27.7%) and were significantly associated with age > 60 (p = 0.043), ASIA-A neurology (p < 0.05), chest injuries (p = 0.042), cervical and thoracic spine injury (p < 0.0001). The mean length of stay in hospital was 8.87 days. Cervical spine injury (p < 0.0001), delay in surgery > 48 h (p = 0.011), Diabetes mellitus (p = 0.01), Ankylosing spondylitis (p = 0.009), associated injuries of chest, head, pelvis and face (p < 0.05) were independent risk factors for longer hospital stay.

Conclusion

Key predictors of mortality after spinal trauma were cervical spine injury, complete neurological deficit, chest injuries and ankylosing spondylitis, while additionally higher age and thoracic injuries contributed to higher morbidity and prolonged hospitalisation. Notably multi-level injuries, higher age, co-morbidities and timing of surgery did not influence the mortality.