Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India

Background: Thalassemia and hemoglobinopathies are a group of inherited conditions characterized by abnormalities in the synthesis or structure of hemoglobin (Hb). According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. To reduce the burden of these highly prevalent monogenic disorders, detecting them in the carrier stage is crucial to prevent disease progression. Aim: We aimed to estimate the prevalence and spectrum of hemoglobinopathies in females in the reproductive (20–40 years) age group. Settings and Design: It was a retrospective observational study carried out for 2.5 years (from January 2018 till June 2020). Materials and Methods: All the females in the age group of 20–40 years age whose blood samples were received in the department for High-Performance Liquid Chromatography (HPLC) were included. The cases with abnormal HPLC findings were analyzed for hematological parameters including hemoglobin, RBC count, and RBC indices [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), & red cell distribution width - coefficient of variation (RDW-CV)]. Statistical Analysis: Statistical package for social science (SPSS) statistics 21 version for Microsoft Windows (Chicago, USA) was used for statistical analysis of data. The data were described in terms of range, mean ± standard deviation (SD), frequencies (number of cases), and relative frequencies (percentage) as appropriate. Results: During the study period, 72.2% of the females were affected with ?-thalassemia trait, followed by HbD Punjab trait (17.8%), HbQ India trait (2.9%), ?-thalassemia major (1.8%), and two cases (1.2%) each of HbS trait, HbD Iran trait, and compound heterozygous of HbD Punjab and ?-thalassaemia, whereas HbE trait, compound heterozygous of HbQ and ?-thalassemia, compound heterozygous of HbJ-variant and ?-thalassemia had one case each (0.6%). Conclusion: Preventive strategies are cost-effective and include population screening, premarital screening, screening of spouses, genetic counseling, and prenatal diagnosis. Educating the carrier females about the potential risk and various screening methods may help in controlling the disease.

Salivary gland imaging: A pictorial essay.

The major salivary glands are parotid, submandibular and sublingual glands. Imaging has an important role to play in detection, diagnosis, aiding biopsy and differentiating benign from malignant pathology. The traditional imaging modalities include plain radiography and sialography. With the advent of modern imaging methods like high resolution ultrasound with color doppler, contrast enhanced CT, MRI and MR sialography, the imaging has become increasingly reliable in making a confident diagnosis. A wide variety of conditions including obstructive, infectious, autoimmune and neoplastic pathologies affect the salivary glands, thus resulting in a wide imaging spectrum. This article is aimed at presenting the imaging appearances of common salivary gland diseases.

Granular parakeratosis presenting with facial keratotic papules.

A 27-year-old female presented with pruritic keratotic papules over the left side of the face since one month. The lesions developed a few days after working in a hot humid environment and were preceded by severe uncontrollable pruritus for which she had repeatedly wiped the area with handkerchiefs and towels. A biopsy from one of the keratotic papules revealed granular parakeratosis with a markedly thick stratum corneum that had parakeratosis and also housed keratohyaline granules. Similar changes were seen in keratotic plugs of dilated follicular infundibula.

A clinical trial of the efficacy and safety of montelukast as monotherapy in patients with chronic stable bronchial asthma.

This study is aimed to evaluate the efficacy and safety of montelukast, as monotherapy, in the treatment of chronic stable bronchial asthma in adults. This was a multicentre, open label, non-comparative, prospective, 4-week study. Eligible patients discontinued all anti-inflammatory medication (steroids, chromoglycate sodium) 2 weeks prior to starting therapy with montelukast (10 mg daily). The primary efficacy criteria were improvements in forced expiratory volume in one second (FEV1), peak exploratory flow rate (PEFR) after 4 weeks of therapy. Secondary efficacy criteria were improvement in the patients' symptoms (assessed on an ordinal scale), decrease in discomfort levels (scored on a scale of 0-100), change in peripheral eosinophil counts, decrease in total daily dose of inhaled beta2 agonist (salbutamol). A total of 148 patients, mean age (+/- SD) 40.21 +/- 13.70 years, were enrolled into the study. At the end of the study there were significant improvements in FEV1 and PEFR (29% and 28% increase respectively from baseline values, p<0.000001). The mean total daily dose of inhaled salbutamol decreased significantly from prestudy values of 461 +/- 332 microg/day to 161 +/- 207 microg/day (p<0.000001). The mean eosinophil counts fell from 5.80 +/- 4.90% (+/- SD) to 4.84 +/- 4.42% (+/- SD) (p=0.02). Symptom scores improved significantly as did subjective assessment of discomfort. A total of 29 (19.6%) adverse events were reported, all of which were of mild to moderate intensity. Monotherapy with montelukast significantly improved parameters of asthma control. It was well tolerated with no reports of serious or severe adverse events.

Evaluation of immunogenicity and tolerance of single dose haemophilus influenzae type B (PRP-T) vaccine.

OBJECTIVE: Evaluation of immunogenicity and acceptability of PRP-T vaccine among the Indian children. DESIGN: Multicentric, open, parallel group, comparative study of Haemophilus influenzae type B vaccine, given as single (Group I) or associated (Group II) with DPT vaccine. SETTING: Five different vaccination clinics. SUBJECTS: 125 children between the age group of 18-24 months. PARAMETERS: Measurement of (i) pre and post vaccination antibody titres of Haemophilus influenze type B specific antibody; (ii) Adverse events; and (iii) Tolerance as graded by the physician. RESULTS: Prevaccination antibody levels were > 0.15 mcg/ml in 56.3% in Group I and 35.7% in Group II. Post-seroconversion was seen in 97% in Group II receiving single and all in Group II (P > 0.05). The vaccine was well tolerated. CONCLUSIONS: The probability of subclinical infection or cross immunity is high in India. ACTHIB vaccine has a good immunogenicity and tolerance and association with DPT does not modify the immunogenicity of ACTHIB vaccine.

Fibronectin levels in Indian neonates in health & disease.

Cord blood samples were estimated for serum fibronectin (Fn) by immunoelectrophoresis (IE) and enzyme linked immuno sorbent assay (ELISA) in 250 newborn healthy and sick infants classified into 6 categories: i.e., term appropriate for date (TAFD), preterm appropriate for date (PTAFD), term small for date (TSFD), preterm small for date (PTSFD), birth asphyxia (BA) and septicemia (SEP). TAFD infants were assayed for plasma Fn in addition. Comparison of Fn levels in the different groups by the Wilcoxan rank sum test indicated no significant difference between term and preterm infants, between PTAFD and PTSFD, TAFD and TSFD and in infants with and without birth asphyxia. Babies with septicemia had a significantly (P < 0.01) lower Fn level (29.97 +/- 29.03 mg/l) than those with no septicemia (42.77 +/- 30.20 mg/l). TAFD infants had Fn levels (serum 41.44 +/- 31.08 mg/l, plasma 85.20 +/- 33.38 mg/l) that are less than half the levels reported in the Western literature for newborn term infants. A possible cause could be the associated medical problems in mothers as 41 per cent of mothers of TAFD infants had conditions such as pregnancy induced hypertension, gestational diabetes, rheumatic heart disease, infection etc.

Alloimmunisation to platelet transfusions in the Indian patients.

Twenty nine patients of acute and chronic leukemia undergoing chemotherapy and receiving blood transfusions (BT) and platelet transfusions (PT) from random donors (3-20 PT from 4-56 donors) were followed up for alloimmunisation using the platelet immunofluorescence test. Two women patients aged 65 and 28 yr reacted positive. Both patients had received multiple BT but no PT at the time of testing. Both were parous women. Our results point to the need to test for alloimmunisation prior to starting PT in parous women who have received multiple BT, although a study on larger number of patients is necessary for confirmation.

Extraction & assay of fibronectin from stored plasma.

Fibronectin was extracted from 20 units of 3 days old plasma by the heparin cold precipitation technique using 15 or 30 units of sodium heparin per ml of plasma. Immunoelectrophoresis of the extracted fibronectin showed it to be 131.37 +/- 24.73 times concentrated over fibronectin levels in standard plasma, with a mean recovery of 73.99 +/- 18.40 per cent. Corresponding figures by ELISA were 118.95 +/- 27.99 (concentration) and 73.99 +/- 18.40 (per cent).