ABSTRACT
We present a rare case of steatohepatitis due to neutral lipid storage disorder in a 1.5-year-old male presenting with intermittent fever, hepatomegaly and dark-coloured urine. On examination, there was ichthyosis involving both the limbs. Liver biopsy showed steatohepatitis. The peripheral blood smear revealed fat vacuoles in the cytoplasm of leucocytes, characteristic of the Dorfman-Chanarin syndrome. Awareness of this condition helps in prompt diagnosis and avoids unnecessary further investigations.
Subject(s)
Fatty Liver/etiology , Hepatitis/etiology , Humans , Infant , Lipid Metabolism, Inborn Errors/complications , Male , SyndromeABSTRACT
The chief limitation of Ultra Fast Papanicolaou (UFP) stain, suggested by Yang and Alvarez (1995), is that, Richard Allan Haematoxylin (RA-H) and Richard Allan Cytostain (RA-C), used in the staining procedure are not universally available. It has not been established so far, whether, changes in the reagents and their proportions depending on the local availability, influence the performance of the stain. The objective of this study was to assess the feasibility and applicability of a modified UFP stain to suit our local laboratory supplies of chemical dyes, as applied to the permanent smears prepared from Fine Needle Aspiration (FNA) of breast lumps. In the present study, smears from FNA from 100 breast lumps were stained by the modified UFP stain. The modification consisted of following two changes: use of Gill's Haematoxylin instead of RAH and omission of Orange G from cytostain. Eighty Six breast aspirates were adequate for interpretation. Smears showed transparent cells with crisp nuclear features, equal to and even better than the conventional Papanicolaou stain, in a blood free background. There was an increase in total staining time by 40 seconds. We recommend the use of this modified UFP stain, only if similar reagents are being used in other laboratories. Otherwise situation specific modifications may be needed. If the UFP stain is to be used for tissues where the chances of cytoplasmic keratinization are negligible, then the use of Orange G component of the stain may become redundant.
Subject(s)
Biopsy, Needle , Breast/pathology , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/pathology , Female , Hematoxylin , Humans , Staining and Labeling/methods , Time Factors , Vaginal SmearsABSTRACT
OBJECTIVES: Since epidemiologic trends of hepatitis A are changing worldwide, we studied its seroprevalence in Mumbai, which is thought to be a high-endemicity area. The immunogenicity and safety of a hepatitis A vaccine were also studied. METHODS: Six hundred and seventy subjects (456 men; age range 6 mo-60 y) answered a questionnaire on social and medical history. Qualitative analysis of total anti-HAV was performed in all subjects by ELISA. One hundred and seven of 147 anti-HAV negative subjects received hepatitis A vaccine at months 0, 1 and 6. Subjects were followed up (months 1, 2, 6, 7) to look for side-effects and seroconversion. RESULTS: The seroprevalence of HAV was 523/670 (78%); 38% of children < 5 years were anti-HAV negative. Seroprevalence rates of 80% were reached by 15 years. Prevalence was lower in the higher socio-economic group (151/234; 64.5%) compared with the lower socio-economic group (372/436; 85%) (p < 0.001). One month after doses 1, 2 and 3 of the hepatitis A vaccine, seropositivity was 92%, 99% and 100%, respectively. Minor self-limited side-effects occurred in 19.5% of subjects; there were no major side-effects. CONCLUSIONS: The seroprevalence of anti-HAV is high in Mumbai. Seroprevalence is lower in the higher socio-economic groups. The hepatitis A vaccine is safe and immunogenic.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Hepatitis A/epidemiology , Hepatitis A Virus, Human/immunology , Hepatitis Antibodies/analysis , Humans , India/epidemiology , Infant , Male , Middle Aged , Safety , Socioeconomic Factors , Viral Hepatitis Vaccines/adverse effectsABSTRACT
Serum ferritin (SF) and lactate dehydrogenase (LDH) was estimated in 117 patients presenting with a breast lump and in 40 controls. Both pre and post treatment values were determined. Both the values were significantly higher in breast malignancies (p = 0.00) and also corresponded with the clinical stage and bulk of the tumour. The fall in post treatment values was proportional to the response to therapy. Persistent rise in values in the post treatment period was indicative of local recurrence of metastasis.
Subject(s)
Adult , Aged , Breast Diseases/blood , Breast Neoplasms/blood , Case-Control Studies , Female , Ferritins/blood , Humans , L-Lactate Dehydrogenase/blood , Middle Aged , Prognosis , Biomarkers, Tumor/bloodABSTRACT
OBJECTIVE: To study the clinical and biochemical spectrum of Gaucher disease. DESIGN: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING: Hospital-based. SUBJECTS: Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS: The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION: In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.
Subject(s)
Child , Child, Preschool , Clinical Enzyme Tests , Female , Gaucher Disease/diagnosis , Humans , Infant , Splenomegaly , beta-Glucosidase/bloodABSTRACT
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 5 , Cri-du-Chat Syndrome/diagnosis , Disease Progression , Humans , Infant , Infant, Newborn , Karyotyping , Phenotype , Time FactorsABSTRACT
A comprehensive prospective and retrospective study of 130 cases was carried out to evaluate the safety, adequacy and diagnostic accuracy of Transthoracic Needle Aspiration (TTNA) in various pulmonary lesions. Using both guided and unguided TTNA diagnostic material was procured in 86.15% cases. Rotex II, Chiba, lumber puncture and ordinary needles were used depending upon the type of lesion. Overall diagnostic accuracy of the procedure was 79.46 percent. Complication after the procedure were transient and self limiting. Haemoptysis was noted in 3.84 percent cases and pneumothorax in a single case. Thus TTNA can be safely included in the investigative protocol of lung lesions.
Subject(s)
Adolescent , Adult , Aged , Biopsy, Needle/adverse effects , Child , Cytodiagnosis/adverse effects , Diagnostic Errors , Female , Humans , Lung Diseases/diagnosis , Lung Neoplasms/diagnosis , Male , Middle Aged , Prospective Studies , Retrospective Studies , SafetyABSTRACT
Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.
Subject(s)
Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Recessive/genetics , Humans , Infant , Male , Mucolipidoses/diagnosis , PhenotypeABSTRACT
A 15 month old boy with typical features of congenital nephrotic syndrome (CNS) is reported, who in addition to the renal pathology had an associated clinical hypothyroidism with low levels of total and free thyroxine and triiodothyronine and an elevated serum TSH. Improvement in the physical parameters and mental status from thyroid hormone replacement therapy is documented.
Subject(s)
Enalapril/therapeutic use , Humans , Hypothyroidism/diagnosis , Infant , Male , Nephrotic Syndrome/complications , Prognosis , Proteinuria/drug therapy , Thyroxine/therapeutic useABSTRACT
A total of 132 healthy children between the ages one month and 12 yr were surveyed to determine the prevalence of antibodies to the three poliovirus serotypes. Among infants up to six months of age, 73.2, 85.4 and 56.1 per cent had antibodies to poliovirus types 1, 2 and 3, respectively. In children of age groups 7 months to 3 yr and above 3 yr, antibody prevalence to the three poliovirus serotypes was 90.2, 86.9 and 57.4, and 83.3, 96.7 and 76.7 per cent, respectively. Immunization coverage with three doses of OPV exceeded 85 per cent in children above 7 months of age. Low seroprevalence to type 3 poliovirus in the children was conspicuous. Of the 80 faecal samples studied from these children, 24 (30%) were positive for virus. Among these isolates, 16 were poliovirus type 1 and three type 2. Intratypic differentiation revealed that 15 of the 16 poliovirus type 1 isolates were of wild origin. Two out of the three poliovirus type 2 isolates were of oral poliovaccine origin. Our data indicate that in spite of good vaccination coverage wild poliovirus type 1 circulation was endemic in Bombay and; that a large number of children were susceptible to poliovirus type 3 infections.