Distinct gene expression profiles underlie morphological and etiological differences in pediatric cataracts

Purpose: Pediatric cataract is a major cause of preventable childhood blindness worldwide. Although genetic mutations or infections have been described in patients, the mechanistic basis of human cataract development remains poorly understood. Therefore, gene expression of structural, developmental, profibrotic, and transcription factors in phenotypically and etiologically distinct forms of pediatric cataracts were evaluated. Methods: This cross?sectional study included 89 pediatric cataract subjects subtyped into 1) prenatal infectious (cytomegalovirus, rubella, and combined cytomegalovirus with rubella infection), 2) prenatal non?infectious, 3) posterior capsular anomalies, 4) postnatal, 5) traumatic, and 6) secondary, and compared to clear, non?cataractous material of eyes with the subluxated lenses. Expression of lens structure?related genes (Aqp-0, HspA4/Hsp70, CrygC), transcription factors (Tdrd7, FoxE3, Maf, Pitx 3) and profibrotic genes (Tgf?, Bmp7, ?SmA, vimentin) in surgically extracted cataract lens material were studied and correlated clinically. Results: In cataract material, the lens?related gene expression profiles were uniquely associated with phenotype/etiology of different cataracts. Postnatal cataracts showed a significantly altered FoxE3 expression. Low levels of Tdrd7 expression correlated with posterior subcapsular opacity, whereas CrygC correlated significantly with anterior capsular ruptures. The expression of Aqp0 and Maf was elevated

Molecular characterization of the severe falciparum malaria with typhoid co-infection A case report

Malaria and typhoid co-infections can be a serious public health issue in tropical countries leading to incorrect diagnosis due to overlapping clinical presentations of malaria and typhoid and hence, causing a delay in implementing the appropriate treatment regimen for these concurrent infections. This study reports a case of six-year-old female child co-infected with severe malaria (Plasmodium falciparum) and typhoid (Salmonella typhi) diagnosed by rapid malaria antigen test (RMAT) and blood culture respectively. Further, analysis of the chloroquine resistance gene Pfcrt for the falciparum demonstrated the presence of K76T mutant allele in pfcrt gene with high IC50 (150nM) for chloroquine (CQ) drug. The present case highlights the significance of timely identification and treatment of co-infections and also provides information about the circulating P. falciparum clinical strains.

Indian Guidelines for Indications and Timing of Intervention for Common Congenital Heart Diseases: Revised and Updated Consensus Statement of the Working Group on Management of Congenital Heart Diseases. Abridged Secondary Publication

ustification: A number of guidelines are available for management of congenital heart diseases from infancy to adult life. However,these guidelines are for patients living in high income countries. Separate guidelines, applicable to Indian children, are required whenrecommending an intervention for congenital heart diseases, as often these patients present late in the course of the disease and mayhave co-existing morbidities and malnutrition. Process: Guidelines emerged following expert deliberations at the National ConsensusMeeting on Management of Congenital Heart Diseases in India, held on 10th and 11th of August 2018 at the All India Institute of MedicalSciences, New Delhi. The meeting was supported by Children’s HeartLink, a non-governmental organization based in Minnesota, USA.Objectives: To frame evidence based guidelines for (i) indications and optimal timing of intervention in common congenital heartdiseases; (ii) follow-up protocols for patients who have undergone cardiac surgery/catheter interventions for congenital heart diseases.Recommendations: Evidence based recommendations are provided for indications and timing of intervention in common congenitalheart diseases, including left-to-right shunts (atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductusarteriosus and others), obstructive lesions (pulmonary stenosis, aortic stenosis and coarctation of aorta) and cyanotic congenital heartdiseases (tetralogy of Fallot, transposition of great arteries, univentricular hearts, total anomalous pulmonary venous connection, Ebsteinanomaly and others). In addition, protocols for follow-up of post surgical patients are also described, disease wise.

Effect of Probiotic Microbial Cell Preparation (MCP) on Fasting Blood Glucose, Body Weight, Waist Circumference, and Faecal Short Chain Fatty Acids among Overweight Malaysian Adults: A Pilot Randomised Controlled Trial of 4 Weeks

Introduction: Probiotic microbial cell preparation (MCP) supplementation is one of the approaches to modulate alterations in gut microbiota (GM). This double-blind randomised controlled trial investigated the effect of 4 weeks of MCP supplementation on fasting blood glucose levels (FBG), body weight (BW), waist circumference (WC), and faecal short chain fatty acids (SCFA) among 24 healthy and overweight (with BMI = 23 kg/m2) Malaysian adults. Methods: Twenty-six subjects were randomised to receive either MCP (n= 12) or placebo (n=14), twice daily, for 4 weeks. The probiotic powder contained a mix of six strains namely, Lactobacillus acidophilus, Lactobacillus lactis, Lactobacillus casei,Bifidobacterium longum, Bifidobacterium bifidum and Bifidobacterium infantis (3.0 x 1010 cfu). FBG, BW, WC, WHR, faecal SCFA, physical activity levels and dietary intake were measured and changes were determined using repeated measures ANOVA. Results: Twenty-four subjects successfully completed the 4-week study period. Changes in FBG, BW, WC and SCFA were not significantly different between the groups. Only subjects in the MCP group significantly reduced their energy intake compared to baseline (1671?±476 vs 1386?±447 kcal, P=0.045). Conclusion: A 4-week supplementation of the MCP mix powder did not have significant effects on the variables studied. However, the significant reduction in dietary energy intake in the MCP group suggests the potential of probiotics as an adjuvant to dietary therapy for weight los

Spectrum of glomerular diseases – clinico-pathologic observations from a state run tertiary care centre.

Background: Renal biopsy is an accurate tool for the diagnosis of glomerular disorders. This study was done to evaluate the histo-pathological spectrum of GDs at our centre and analyze its clinico-pathological correlation. Methods: All renal biopsies performed for suspected glomerular diseases at our institute over a period of 2 years from Jan 2013 to Jan 2015 were analyzed (n= 597). Biopsies were performed under ultrasound guidance and processed for light microscopy and immunofluorescence. Results: Among the total biopsies done, 597 (69.49%) had biopsy proven GD .The mean age of the patients included was 37.96 ± 15.58 years. M:F ratio was 2.3 : 1. The most common clinical syndrome was nephrotic syndrome (44.38%). PGDs were more common than SGDs The most common GD presenting as NS was FSGS (29.8%). Among patients with nephrotic syndrome, FSGS, MCD, and MGN predominated. DN was the commonest SGD, followed by Lupus nephritis. NDRD was reported in 33 patients (5.52%).Crescentic GN was seen in 11.89% cases majority presenting as RPGN. IgAN comprised 40.42% of the immune complex crescentic GNs. Amyloidosis was diagnosed in 1.84% of biopsies. Conclusion: Histo-pathological examination with LM and IF techniques and correlation with clinical, biochemical and serological markers as done in this study, have proved useful for the accurate diagnosis of glomerular diseases. It also provides important epidemiological information towards setting up a renal biopsy registry.

A multicentre pharmacoepidemiological study of dermatological disorders in Wardha district.

Background: Skin diseases are common among the general population and account for a high percentage of all diseases. For considering the increase in the prevalence of specific skin diseases, prevalence data are needed. Appropriate treatment of common diseases and provision of essential drugs are two essential components of the primary health care. The aim in dermatological therapy is to use the safest and least number of drugs in order to obtain the best possible effect in the shortest period at reasonable cost. For that important step is taken to monitor, evaluate and therapeutically analyze the prescribing pattern of dermatological drugs. Methods: 12210 cases were screened for dermatological disorders in the Primary Health Care Centers and Rural Hospital of Wardha district during the time frame 1st January 2006 to 30th September 2010, out of which 1000 patients experienced different variety of dermatological disorders were analyzed. In prescription analysis 800 prescriptions with 1946 drugs were analyzed. Results: The prevalence of dermatological disorders in our study was found 8.19%. Out of 1000 patients, there were 567 females (56.7%) and 433 male (43.3%).1000 cases were divided into five age groups viz. 1-20 yrs, 21-40 yrs, 41-60 yrs, 61-80 yrs and more than 80 yrs. Percentage distribution for the various age ranges were 21%, 48%, 20%, 8% and 3% respectively. In spectrum of dermatological disorders, Acne vulgaris (14.8%) was the most common disorder followed by Tinea infection (13.6%) , Eczema (13.2%), scabies (12.4%) and pyoderma (11.6%), Acute urticaria (6.6%), Melasma (5.8%), Psoriasis (3.8%), Polymorphous light eruption (3.6%), Phytophotodermatitis (2.6%), Leprosy (2%) and other disorders (10%). The total number of drugs prescribed in 800 prescriptions was 1946 i.e. on average 2.43 drugs were prescribed per patient. Out of 1946 drugs, 1054 were topical and 892 were oral preparations. Antifungal was most common topically prescribed drug. Conclusions: The prevalence of dermatological disorders is 8.19 %. Younger age group (21-40 yrs) and Females is most affected by dermatological disorders. The commonest dermatological disorder is Acne and in prescription analysis, antifungals are most commonly prescribed.

Epicotyl morphophysiological dormancy in seeds of Lilium polyphyllum (Liliaceae).

Dormancy-breaking and seed germination studies in genus Lilium reveal that the majority of Lilium spp. studied have an underdeveloped embryo at maturity, which grows inside the seed before the radicle emerges. Additionally, the embryo, radicle or cotyledon has a physiological component of dormancy; thus, Lilium seeds have morphophysiological dormancy (MPD). A previous study suggested that seeds of Lilium polyphyllum have MPD but the study did not investigate the development of the embryo, which is one of the main criteria to determine MPD in seeds. To test this hypothesis, we investigated embryo growth and emergence of radicles and epicotyls in seeds over a range of temperatures. At maturity, seeds had underdeveloped embryos which developed fully at warm temperature within 6 weeks. Immediately after embryo growth, radicles also emerged at warm temperatures. However, epicotyls failed to emerge soon after radicle emergence. Epicotyls emerged from >90% seeds with an emerged radicle only after they were subjected to 2 weeks of cold moist stratification. The overall temperature requirements for dormancy-breaking and seed germination indicate a non-deep simple epicotyl MPD in L. polyphyllum.

Lymphangioma circumscriptum of buttock mimicking lupus vulgaris and responding with anti-tubercular chemotherapy

Lymphangioma circumscriptum [LC] is a form of lymphangioma involving skin and subcutaneous tissue. Circumscriptum as its name suggests, is a well-circumscribed small lesion but it has a rare extensive variety also. LC may resemble other entities such as metastatic carcinoma of skin, lymphangiectasis, syringocystadenoma papilliferum, lupus vulgaris, actinomycosis etc. It is a difficult condition to treat. Different modalities of treatment such as surgical excision, laser, sclerotherapy, radiofrequency coagulation are used to treat this condition. We report here clinical presentation mimicking lupus vulgaris and responding with anti-tubercular [ATT] chemotherapy

Generalized eruptive syringoma

Syringoma is a benign adnexal neoplasm formed by well-differentiated ductal elements. The name syringoma is derived from Greek word Syrinx which means pipe or tube. Most commonly, syringomas are skin-colored or yellowish, small dermal rounded or flat papules ranging from 1- 3mm in diameter in the lower lid and upper part of the cheek. Eruptive syringoma is clinically distinct, uncommon variant of syringomas. Since the initial description by Darier and Jaquet in 1887, less than 100 cases have been reported to date. A case of 18 year old female with a 5 year history of eruptive syringoma is presented

Promoter region polymorphism & expression profile of toll like receptor-3 (TLR-3) gene in chronic hepatitis C virus (HCV) patients from India.

Background & objectives: Hepatitis C virus (HCV) induces an immune response of the host, manifested by the formation of anti-HCV antibodies mediated by adaptive and innate immunity. Toll-like receptors (TLRs) play a pivotal role in innate immunity system. This study was aimed to investigate the promoter region polymorphism and expression of TLR3 gene in patients with chronic HCV infection. Methods: Patients with chronic HCV infection (N=180) and an equal number of age-sex matched controls were included in the study. Patients positive for HCV-RNA were subjected to analysis of TLR3 polymorphism by direct sequencing of PCR products verified by comparing with the sequences reported in the National Centre for Biotechnology Information (NCBI) database (accession number: NT 022792). Expression of TLR3 gene was analyzed by semiquantitative RT-PCR using housekeeping β-actin gene as the internal control. Results: Polymorphisms at position -288G/A and -705A/G were identified. The results were significant in -705 allele (P=0.004) OR 2.79(1.46-5.42) and were associated with high risk of HCV infection. In silico sequence analysis showed the presence of ectropic viral integration site 1 encoded factor, in which G at -705 results in the loss of this site. The -7C/A polymorphism was not seen in our study cohort. The expression of TLR3 was upregulated in chronic HCV patients compared to healthy controls. Interpretation & conclusions: Polymorphism in the -705A/G allele at the promoter region of the TLR3 gene may predispose individual to HCV infection. However association of TLR3 expression with polymorphism of TLR3 promoter was not found.

Evaluation of anticataract potential of Triphala in selenite-induced cataract: In vitro and in vivo studies.

Triphala (TP) is composed of Emblica officinalis, Terminalia chebula, and Terminalia belerica. The present study was undertaken to evaluate its anticataract potential in vitro and in vivo in a selenite-induced experimental model of cataract. In vitro enucleated rat lenses were maintained in organ culture containing Dulbecco’s Modified Eagles Medium alone or with the addition of 100μM selenite. These served as the normal and control groups, respectively. In the test group, the medium was supplemented with selenite and different concentrations of TP aqueous extract. The lenses were incubated for 24 h at 37°C. After incubation, the lenses were processed to estimate reduced glutathione (GSH), lipid peroxidation product, and antioxidant enzymes. In vivo selenite cataract was induced in 9-day-old rat pups by subcutaneous injection of sodium selenite (25 μmole/kg body weight). The test groups received 25, 50, and 75 mg/kg of TP intraperitoneally 4 h before the selenite challenge. At the end of the study period, the rats' eyes were examined by slit-lamp. TP significantly (P < 0.01) restored GSH and decreased malondialdehyde levels. A significant restoration in the activities of antioxidant enzymes such as superoxide dismutase (P < 0.05), catalase (P < 0.05), glutathione peroxidase (P < 0.05), and glutathione-s-transferase (P < 0.005) was observed in the TP-supplemented group compared to controls. In vivo TF 25mg/kg developed only 20% nuclear cataract as compared to 100% in control. TP prevents or retards experimental selenite-induced cataract. This effect may be due to antioxidant activity. Further studies are warranted to explore its role in human cataract.

diagnostic yield of thyroid function tests and their cost-effectiveness in the student clinic at Sultan Qaboos University: retrospective chart review

To assess the significance of requesting thyroid function tests [TFT] and their cost effectiveness for specific and non-specific symptoms of thyroid disease in a specific population in Oman. A retrospective chart review study was conducted in the student clinic at Sultan Qaboos University in Oman in the year 2007-2008. It included all patients [N=319] of both sexes for whom TFTs were requested. The patients' main complaints and the final diagnoses were collected from their medical records. The most common presentations for which TFTs were requested were irregular periods [n=82]; fatiguability [n=49], palpitations [n=39]; weight changes [n=22]; hair changes [n=20]; sensation of heat and cold [n=18]; diarrhoea and constipation [n=13], and neck swelling [n=13].The most common diagnoses reached in relation to these complaints were polycystic ovarian syndrome [n=51]; iron deficiency anaemia [n=42]; anxiety and depression [n=11]; thyroid disease [n=18], and no specific diagnosis [n=193]. The percentage of thyroid diseases among females [7.1%] compared to males [1.2%] was statistically significant [P <0.05]. Thyroid disease accounted for 61.5% of those patient with neck swelling, 7.7% of those with palpitations, 4.1% of those with fatigue, 3% of those with other complaints, and 1.2% of those with irregular periods. The cost of the tests was around 20,000 US dollars. TFT is necessary for those presenting with neck swelling, but restraint should be used in administering the test for those complaining of palpitations or fatigue. Additionally, irregular periods have little link with TFT abnormality

importance of HIV antenatal screening programs for pregnant women

To investigate retrospectively the prevalence of human immunodeficiency virus [HIV]-1 and among pregnant women during a 10-year period. The total number of pregnant women attending the Sultan Qaboos University Hospital [SQUH]. Muscat, Oman between January 1995 and December 2005 was 11553 women. Their age range was 16-45 years [average of 28.6 +/- 7.6 years]. The women were tested for HIV- 1 and 2 using the standard enzyme-linked immunosorbent assay [ELISA]. Positive samples were further tested by Western Blot. The data were statistically analyzed using the Statistical Package for Social Sciences Version 10.0. By ELISA testing, 21 women were positive for HIV-1 [prevalence rate: 0.2%] and 3 women were weakly positive for HIV-1 [24 women; 0.2% prevalence rate]. However, 15 women were confirmed HIV- 1 positive using the Western Blot method [prevalence rate: 0.13%] with an average of 1.5 positive women per year. None of the women were found positive for HIV-2. This relatively high prevalence of HIV-1 among pregnant women attending SQUH, highlights the need for screening all pregnant women attending different hospitals and antenatal clinics in Oman. This is essential for preventing the transmission of HIV-1 and 2 to the infants and to the community, and for the appropriate medical treatment and counseling of affected women

Current concepts in the pathophysiology of glaucoma.

Glaucoma, the second leading cause of blindness, is characterized by changes in the optic disc and visual field defects. The elevated intraocular pressure was considered the prime factor responsible for the glaucomatous optic neuropathy involving death of retinal ganglion cells and their axons. Extensive investigations into the pathophysiology of glaucoma now reveal the role of multiple factors in the development of retinal ganglion cell death. A better understanding of the pathophysiological mechanisms involved in the onset and progression of glaucomatous optic neuropathy is crucial in the development of better therapeutic options. This review is an effort to summarize the current concepts in the pathophysiology of glaucoma so that newer therapeutic targets can be recognized.The literature available in the National Medical Library and online Pubmed search engine was used for literature review.

Inhibition of sodium current by carbamazepine in dorsal root ganglion neurons in vitro.

Carbamazepine (CBZ), one of the most commonly prescribed antiepileptic drug, is proposed to inhibit Na+ channel. In this study, we have investigated the effects of CBZ on Na+ current, evoked in cultured dorsal root ganglion (DRG) neurons from neonatal rats using whole cell patch clamp technique. In small DRG neurons (20–25 μm), Na+ current was obtained by blocking K+ and Ca2+ currents with appropriate ion replacement and channel blockers. Separation of the Na+ current components was achieved on the basis of response to the conditioning voltage. The CBZ depressed Na+ current in a dose-dependent manner. The maximal Na+ current was depressed at 300 μM of CBZ, where 94±5.1% of depression was observed. The depression of normalized current amplitude was found to be 72±13.2%, 84±10%, 85±7.1% and 95±5.2% at 10, 30, 100 and 300 μM of CBZ concentrations, respectively, at –20 mV test pulse, when compared with control. The depression of current amplitude was observed as 48±12.3%, 42±15.2%, 71±17.7% and 90±5.8% at 10, 30, 100 and 300 μM of CBZ concentration, respectively, at 0 mV voltage pulse. The depression of Na+ currents was found to be dose-dependant at –20 and –10 mV but not at 0 mV. It is concluded that the depression of Na+ currents by CBZ may be responsible for inhibiting the neurotransmitter release.

Prevalence of rheumatic heart disease: Has it declined in India.

Rheumatic heart disease continues to be a major health problem in many parts of the world. The epidemiology of rheumatic heart disease in India is of special interest as it may help to understand the effects of economic transition on this enigmatic disease. Critical appraisal of the published literature suggests the possibility of a real decline in the occurrence of the disease in some parts of the country, but a continuing onslaught in several other regions. The rate of decline seems to correlate more with improved public health facilities than with economic development alone. However, the cumulative burden of the disease remains high, and sustained efforts for the prevention of rheumatic heart disease are warranted.

Patients' views of interpersonal continuity of care in four primary health care centres of Urban Oman

Interpersonal continuity of care [consulting the same physician] is widely regarded as a core value of primary care and a crucial component of quality of care. Nonetheless, interpersonal continuity as experienced by patients remains a neglected topic in Arab countries including Oman. The aim of this study was to explore how patients view interpersonal continuity of care in the primary care setting in Oman. Four primary health centres [PHCs] were selected from two urban cities in Oman. In the period June to August 2008, adult patients were surveyed by questionnaire at their PHC while waiting to see their primary care physicians [PCPs]. Results: We interviewed 319 [71%] of enrolled participants. Their ages ranged from 18-70 years. The majority of patients [223 - 70%] thought interpersonal continuity was very important for them; 232 [73%] patients felt that they obtained better care with interpersonal continuity. 225 [71%] patients preferred interpersonal continuity if they had personal, family or social problems. Nonetheless, compared to male patients, female patients had less chance to maintain interpersonal continuity [p=0.018]. Interpersonal continuity increased as the number of consultations increased [p=0.030]. Preference for interpersonal continuity was associated with increasing age [p=0.020] and with the presence of chronic illnesses [p=0.001]. Patients with chronic illnesses, who reported more preference for interpersonal continuity, were also found to be more compliant with medications and committed to carrying out recommended advice compared to patients without such illnesses [p=0.027]. Omani patients perceived interpersonal continuity as an important aspect of primary care. Health planners should note patients' preference for interpersonal continuity and take visible measures to support it. A larger study is needed to survey more of the PHCs of Oman