Familial Monosomy 7 Syndrome Associated with Myelodysplasia

Indian Journal of Pediatrics -     

The role of Tenonplasty in the management of limbal and scleral ischemia due to acute ocular chemical burns

Of the various manifestations of ocular chemical burns (OCBs), ischemia of the limbus and the peri-limbal sclera indicates poor prognosis and in severe cases threaten the integrity of the globe. Tenonplasty is a surgical procedure which involves advancing the Tenon’s capsule over the ischemic areas to provide a vascular supply and to enable migration of the conjunctival epithelium. This review aims to provide an overview of the diagnosis of limbal ischemia and its management with Tenonplasty. A literature review was conducted using the keywords “Tenonplasty,” “Tenon’s capsule,” “ocular chemical injury,” “ocular thermal injury,” “Tenon advancement,” “scleral ischemia,” and “limbal ischemia,” and outcomes were studied from seven selected articles. In addition to clinical evaluation, in vivo imaging techniques such as anterior segment optical coherence tomography angiography can provide an objective method of measuring and monitoring the ischemia and re-perfusion of the peri-limbal vasculature. Tenonplasty can be performed in eyes with acute OCBs with scleral or limbal ischemia by dissecting the Tenon’s layer from the orbit and securing it to the limbus. The indications, mechanism of action, peri-operative considerations, surgical technique, and post-operative care of Tenonplasty are discussed in detail. The average time for post-operative re-epithelization ranges from 1 to 6 months with the formation of a symblepharon being the most common complication. In conclusion, Tenonplasty is a globe-salvaging procedure in cases with severe limbal and scleral ischemia because of OCBs and has good anatomical outcomes priming the globe for subsequent re-constructive and vision-restoring surgeries.     

Glycosylated hemoglobin-defined prediabetes and cardiovascular risk markers in rural India: the Nallampatti noncommunicable disease study

The aim of this study is to assess the associations between glycosylated hemoglobin in the prediabetes range and cardiovascular risk markers in a rural South Indian population. Local Ethics Committee approval and informed consent was obtained from all participants. Inclusion criteria were participants, aged ≥20 and ≤85 years, from Nallampatti, a classical farming village from Tamil Nadu State, India. Those with known history of diabetes were excluded from this analysis. All participants were administered a detailed questionnaire, had anthropometric measurements including height, weight, and waist circumference. Bloods were drawn for random blood glucose, glycosylated hemoglobin, nonfasting lipid profile, cystatin C, uric acid, and hemoglobin. All participants had carotid intima thickness done by high-resolution B-mode carotid ultrasound. Progressive hyperglycemia across the glucose tolerance continuum based on glycosylated hemoglobin levels in a rural South Indian population seems to be associated with worsening cardiovascular risk markers. A cut-off value of ≥6% (42 mmol/mol) seems to herald a much more significant increase in such markers. Long-term follow-up of this cohort for incident cardiovascular disease will help to substantiate the associations between glycosylated hemoglobin levels within the prediabetes range and cardiovascular disease in an Indian population. Evidence-based race-specific criteria for diagnosis of prediabetes and diabetes are the need of the hour for risk stratification and appropriate management.     

Risk conferred by tagged SNPs of AGT gene in causing susceptibility to essential hypertension

Introduction: AGT gene harbors several variants of which 21 are found to be in high linkage disequilibrium as per Hapmap database. Studies delineating the importance of these tagged SNPs are very limited and lacking from Indian population. In the present study, we evaluated the contribution of four tagged SNPs namely, g.6635G?>?A, g.6506G?>?A, g.12840G?>?A, and g.13828T?>?C at AGT locus along with the analyses of haplotype and epistatic interactions in causing susceptibility to essential hypertension (EHT).

Methods: About 215 hypertensives and 230 normotensives were genotyped for selected tagged SNPs using PCR-RFLP method.

Results: Significant association was obtained for g.6635G?>?A and g.6506G?>?A polymorphisms wherein GG homozygotes for both the markers were at risk for developing the condition. g.13828T?>?C polymorphism specially, female heterozygotes (TC) were found to be at increased risk for EHT. Haplotype GGGC was found to have a significant protective effect (p?=?0.0059). Markers g.6506G?>?A and g.12840G?>?A resulted in the creation of new enhancer sites thereby affecting splicing process.

Conclusion: The present report is the first one in the literature showing general- and gender-specific association of g.6506G?>?A and g.13828T?>?C polymorphisms, respectively, with EHT. However, further studies for replication of present observations are warranted from other populations and other parts of India.     

Influence of cigarette smoking on blood and salivary super oxide dismutase levels among smokers and non‐smokers

Aim: To determine the influence of smoking on the blood and salivary superoxide dismutase levels among smokers, and to demonstrate the significance in alterations in the levels of superoxide dismutase in association with patient age, periodontal disease status, and duration and smoking frequency. Methods: Sixty healthy male patients (aged 20–60 years) constituted the target population. Blood and saliva samples were collected, and the periodontal index was measured using a Community Periodontal Index probe. Blood and salivary superoxide dismutase levels were calculated with the reagents prepared, and values were measured in a UV spectrophotometer. Results: There was a significant decrease in mean superoxide dismutase levels with an increase in age and smoking duration and frequency (0.23–0.05 U/mL). There was a range of 0.31–0.06 U/mL variation in the mean superoxide dismutase levels as the periodontal disease condition deteriorated. Conclusions: There was a significant reduction in the superoxide dismutase levels in the blood and saliva of smokers with increased duration and frequency of smoking, and as the periodontal disease condition worsened. Thus, this study emphasizes the importance of saliva as an easy, non‐invasive procedure in the diagnosis of patients who are more prone to precancerous lesions and conditions, and its importance in patient education and motivation programs for smoking cessation.     

Pattern of missing probes in rifampicin resistant TB by Xpert MTB/RIF assay at a tertiary care centre in Mumbai

Setting

Department of Microbiology.

Thyroid hormone action on skin: diverging effects of topical versus intraperitoneal administration.

Previously, we demonstrated stimulation of epidermal proliferation and hair growth in triiodothyronine (T(3)) treated mice. To distinguish skin effects of directly applied T(3) from those of systemic hyperthyroidism, we treated CD-1 mice with either intraperitoneally (IP) or topically administered T(3). Relative to controls, mice receiving T(3) IP had 10% thinner epidermis (p < 0.01) and 48% fewer hairs (p < 0.001). By contrast, mice receiving T(3) topically had 78% thicker epidermis (p < 0.01) and 160% more hairs (p < 0.01). To gain insight into factors responsible for the diverging effects, we contrasted T(3) effect on proliferation of isolated keratinocyte cultures versus keratinocytes cocultured with dermal fibroblasts. For keratinocytes grown in the absence of fibroblasts, T(3) stimulated proliferation in a dose-dependent, biphasic pattern with the peak at 0.5 nM T(3) (84 +/- 30%, p < 0.05). Paradoxically, T(3) inhibited proliferation of keratinocytes cocultured with fibroblasts, the nadir at 0.1 nM T(3) (34% +/- 4%, p < 0.001). These studies are the first describing divergent effects of IP and topically administered thyroid hormone. The data suggest that while T(3) stimulated keratinocyte proliferation, T(3) also stimulated proliferation inhibitory factor(s) from skin fibroblasts. Insight into the interplay among the competing factors will be important in understanding thyroid hormone regulation of skin physiology.     

A novel site-II directed glycoprotein estimation ELISA to aid rabies vaccine manufacture for veterinary and human use

Although the World Health Organization recommends the use of in vitro techniques to qualify rabies vaccine lot release, very limited proposals have been made to arrive at a harmonized approach for wide scale usage. The present study proposed and evaluated the use of a novel avidin–biotin ELISA as an alternative to these in vivo tests in rabies vaccine manufacture. This assay utilized a neutralizing pan reactive monoclonal antibody (mAb) reactive with the conserved site-II of the natively folded rabies glycoprotein. Linear regression analysis of the in vitro glycoprotein estimates with the in vivo potency values, showed a good correlation (r² = 0.8) with veterinary vaccines, but a poor correlation (r² = 0.2) with human vaccines. However, we could qualitatively arrive at cut-off glycoprotein estimates from the ELISA, above which all the vaccines were declared to be protective by mouse challenge studies (>2.5 IU/dose).