Pattern of congenital abnormalities in a tertiary hospital and its impact on neonatal mortality

Background: Congenital abnormalities are major contributors of neonatal mortality and stillbirths. However, there is not sufficient data in our country on the prevalence of various congenital malformations and their impact on neonatal mortality. Objectives: To study the prevalence and pattern of congenital anomalies among neonates delivered in a tertiary hospital setting in 3 years and its impact on perinatal and neonatal mortality. Materials and Methods: This hospital based prospective descriptive study was undertaken at tertiary care hospital in Kerala. All babies born in the hospital from January 2013 to December 2015 (3 years) were included in the study. The baby was examined by a pediatrician during the first 24 h to identify any birth defects. A detailed history including familial and gestational factors was taken in babies with birth defects. Photographs, radiographs, ultrasound examination, echocardiography, and chromosomal studies were undertaken as required. The details were entered in a pro forma. The anomalies are classified as per ICD-10 criteria. Results were analyzed by simple statistical techniques recording number and percentage of cases. Results: The prevalence of birth defects in live born newborn was 1.9% whereas, in stillbirths, it was 15.3%. Congenital anomalies also contributed a major risk factor for neonatal death as 22% of the newborns, died in the immediate neonatal period, had some form of congenital anomaly. The major maternal risk factor found to be associated with congenital anomalies was gestational diabetes (21.3%). The patterns of congenital anomalies were musculoskeletal anomalies (25%), central nervous system (18%), genitourinary system (14%), congenital diaphragmatic hernia (12%), cardiovascular system (10%), gastrointestinal (7%), syndromes (6%), non-immune hydrops (5%), and others (3%). Conclusion: Prevalence of birth defects in this birth cohort was 1.9% comparable to other Indian data. In Kerala, one of the major causes of perinatal and neonatal mortality is congenital malformations

DIAbetic macular oedema aNd diode subthreshold micropulse laser (DIAMONDS) : Ppotocol for a randomised clinical trial

Background In the UK, macular laser is the treatment of choice for people with diabetic macular oedema with central retinal subfield thickness (CST) < 400 μm, as per National Institute for Health and Care Excellence guidelines. It remains unclear whether subthreshold micropulse laser is superior and should replace standard threshold laser for the treatment of eligible patients. Methods DIAMONDS is a pragmatic, multicentre, allocation-concealed, randomised, equivalence, double-masked clinical trial that aims to determine the clinical effectiveness and cost-effectiveness of subthreshold micropulse laser compared with standard threshold laser, for the treatment of diabetic macular oedema with CST < 400 μm. The primary outcome is the mean change in best-corrected visual acuity in the study eye from baseline to month 24 post treatment. Secondary outcomes (at 24 months) include change in binocular best corrected visual acuity; CST; mean deviation of the Humphrey 10–2 visual field; change in percentage of people meeting driving standards; European Quality of Life-5 Dimensions, National Eye Institute Visual Functioning Questionnaire-25 and VisQoL scores; incremental cost per quality-adjusted life year gained; side effects; number of laser treatments and use of additional therapies. The primary statistical analysis will be per protocol rather than intention-to-treat analysis because the latter increases type I error in non-inferiority or equivalence trials. The difference between lasers for change in best-corrected visual acuity (using 95% CI) will be compared to the permitted maximum difference of five Early Treatment Diabetic Retinopathy Study (ETDRS) letters. Linear and logistic regression models will be used to compare outcomes between treatment groups. A Markov-model-based cost-utility analysis will extend beyond the trial period to estimate longer-term cost-effectiveness. Discussion This trial will determine the clinical effectiveness and cost-effectiveness of subthreshold micropulse laser, when compared with standard threshold laser, for the treatment of diabetic macular oedema, the main cause of sight loss in people with diabetes mellitus

The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK

To validate and update the 2013 James Lind Alliance (JLA) Sight Loss and Vision Priority Setting Partnership (PSP)'s research priorities for Ophthalmology, as part of the UK Clinical Eye Research Strategy. Twelve ophthalmology research themes were identified from the JLA report. They were allocated to five Clinical Study Groups of diverse stakeholders who reviewed the top 10 research priorities for each theme. Using an online survey (April 2021-February 2023), respondents were invited to complete one or more of nine subspecialty surveys. Respondents indicated which of the research questions they considered important and subsequently ranked them. In total, 2240 people responded to the survey (mean age, 59.3 years), from across the UK. 68.1% were female. 68.2% were patients, 22.3% healthcare professionals or vision researchers, 7.1% carers, and 2.1% were charity support workers. Highest ranked questions by subspecialty: Cataract (prevention), Cornea (improving microbial keratitis treatment), Optometric (impact of integration of ophthalmic primary and secondary care via community optometric care pathways), Refractive (factors influencing development and/or progression of refractive error), Childhood onset (improving early detection of visual disorders), Glaucoma (effective and improved treatments), Neuro-ophthalmology (improvements in prevention, diagnosis and treatment of neurodegeneration affecting vision), Retina (improving prevention, diagnosis and treatment of dry age-related macular degeneration), Uveitis (effective treatments for ocular and orbital inflammatory diseases). A decade after the initial PSP, the results refocus the most important research questions for each subspecialty, and prime targeted research proposals within Ophthalmology, a chronically underfunded specialty given the substantial burden of disability caused by eye disease. [Abstract copyright: © 2024. The Author(s).

Standard threshold laser versus subthreshold micropulse laser for adults with diabetic macular oedema : the DIAMONDS non-inferiority RCT

Background: The National Institute for Health and Care Excellence recommends macular laser to treat diabetic macular oedema with a central retinal subfield thickness of < 400 µm on optical coherence tomography. The DIAMONDS (DIAbetic Macular Oedema aNd Diode Subthreshold micropulse laser) trial compared standard threshold macular laser with subthreshold micropulse laser to treat diabetic macular oedema suitable for macular laser. Objectives: Determining the clinical effectiveness, safety and cost-effectiveness of subthreshold micropulse laser compared with standard threshold macular laser to treat diabetic macular oedema with a central retinal subfield thickness of < 400 µm. Design: A pragmatic, multicentre, allocation-concealed, double-masked, randomised, non-inferiority, clinical trial. Setting: Hospital eye services in the UK. Participants: Adults with diabetes and centre-involving diabetic macular oedema with a central retinal subfield thickness of  24 Early Treatment Diabetic Retinopathy Study letters (Snellen equivalent > 20/320) in one/both eyes. Interventions: Participants were randomised 1 : 1 to receive 577 nm subthreshold micropulse laser or standard threshold macular laser (e.g. argon laser, frequency-doubled neodymium-doped yttrium aluminium garnet 532 nm laser); laser treatments could be repeated as needed. Rescue therapy with intravitreal anti-vascular endothelial growth factor therapies or steroids was allowed if a loss of ≥ 10 Early Treatment Diabetic Retinopathy Study letters between visits occurred and/or central retinal subfield thickness increased to > 400 µm. Main outcome measures: The primary outcome was the mean change in best-corrected visual acuity in the study eye at 24 months (non-inferiority margin 5 Early Treatment Diabetic Retinopathy Study letters). Secondary outcomes included the mean change from baseline to 24 months in the following: binocular best-corrected visual acuity; central retinal subfield thickness; the mean deviation of the Humphrey 10–2 visual field in the study eye; the percentage of people meeting driving standards; and the EuroQol-5 Dimensions, five-level version, National Eye Institute Visual Function Questionnaire – 25 and Vision and Quality of Life Index scores. Other secondary outcomes were the cost per quality-adjusted life-years gained, adverse effects, number of laser treatments and additional rescue treatments. Results: The DIAMONDS trial recruited fully (n = 266); 87% of participants in the subthreshold micropulse laser group and 86% of participants in the standard threshold macular laser group had primary outcome data. Groups were balanced regarding baseline characteristics. Mean best-corrected visual acuity change in the study eye from baseline to month 24 was –2.43 letters (standard deviation 8.20 letters) in the subthreshold micropulse laser group and –0.45 letters (standard deviation 6.72 letters) in the standard threshold macular laser group. Subthreshold micropulse laser was deemed to be not only non-inferior but also equivalent to standard threshold macular laser as the 95% confidence interval (–3.9 to –0.04 letters) lay wholly within both the upper and lower margins of the permitted maximum difference (5 Early Treatment Diabetic Retinopathy Study letters). There was no statistically significant difference between groups in any of the secondary outcomes investigated with the exception of the number of laser treatments performed, which was slightly higher in the subthreshold micropulse laser group (mean difference 0.48, 95% confidence interval 0.18 to 0.79; p = 0.002). Base-case analysis indicated no significant difference in the cost per quality-adjusted life-years between groups. Future work: A trial in people with ≥ 400 µm diabetic macular oedema comparing anti-vascular endothelial growth factor therapy alone with anti-vascular endothelial growth factor therapy and macular laser applied at the time when central retinal subfield thickness has decreased to < 400 µm following anti-vascular endothelial growth factor injections would be of value because it could reduce the number of injections and, subsequently, costs and risks and inconvenience to patients. Limitations: The majority of participants enrolled had poorly controlled diabetes. Conclusions: Subthreshold micropulse laser was equivalent to standard threshold macular laser but required a slightly higher number of laser treatments. Trial registration: This trial is registered as EudraCT 2015-001940-12, ISRCTN17742985 and NCT03690050. Funding: This project was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 26, No. 50. See the NIHR Journals Library website for further project information

The genetic architecture of type 2 diabetes

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of heritability. To test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole genome sequencing in 2,657 Europeans with and without diabetes, and exome sequencing in a total of 12,940 subjects from five ancestral groups. To increase statistical power, we expanded sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support a major role for lower-frequency variants in predisposition to type 2 diabetes

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely-imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (Stage 1, n=59,771) and generalized our findings in 9 additional studies (HISLA Stage 2, n=10,538). We conducted a trans-ancestral GWAS with summary statistics from HISLA Stage 1 and existing consortia of European and African ancestries. In our HISLA Stage 1+2 analyses, we discovered one BMI locus, as well as two BMI signals and another height signal each within established anthropometric loci. In our trans-ancestral meta-analysis, we discovered three BMI loci, one height locus, and one WHRadjBMI locus. We also identified three secondary signals for BMI, 28 for height, and two for WHRadjBMI in established loci. We show that 336 known BMI, 1,177 known height, and 143 known WHRadjBMI (combined) SNPs demonstrated suggestive transferability (nominal significance and effect estimate directional consistency) in Hispanic/Latino adults. Of these, 36 BMI, 124 height, and 11 WHRadjBMI SNPs were significant after trait-specific Bonferroni correction. Trans-ancestral meta-analysis of the three ancestries showed a small-to-moderate impact of uncorrected population stratification on the resulting effect size estimates. Our findings demonstrate that future studies may also benefit from leveraging diverse ancestries and differences in linkage disequilibrium patterns to discover novel loci and additional signals with less residual population stratification

Regular paper ANFIS based UPFC supplementary controller for damping low frequency oscillations in power systems

An adaptive neuro-fuzzy inference system (ANFIS) based supplementary Unified Power Flow Controller (UPFC) to superimpose the damping function on the control signal of UPFC is proposed. By using a hybrid learning procedure, the proposed ANFIS construct an input -output mapping based on stipulated input-output data pairs. The linguistic rules, considering the dependence of the plant output on the controlling signal are used to build the initial fuzzy inference structure. On the basis of linearized Philips-Hefron model of power system installed with UPFC, the damping function of the UPFC with various alternative UPFC control signals are investigated. In the simulations under widely varying operating conditions and system parameters, ANFIS based controller yields improved performance when compared with constant gain controller, based on phase compensation technique. To validate the robustness of the proposed technique, the approach is integrated to a multi-machine power system and the nonlinear simulation results are presented

Changing from Snellen to LogMAR:debate or delay?

Visual acuity is the most commonly used test to assess visual function. The Snellen chart is the universally accepted tool for testing visual acuity despite its poor reliability and reproducibility. Newer logMAR charts are now available that have negated the disadvantages of the Snellen chart. However, these charts are not being used regularly in daily practice. This article discusses the reasons for the delayed acceptance of the logMAR chart

Prevalence and risk factors of urinary incontinence among elderly women residing in Kochi corporation: A community-based cross-sectional study

Background: A study was done on the prevalence, risk factors, and treatment-seeking behavior of elderly women with urinary incontinence (UI) residing in Kochi Corporation, Kerala, India. The community-based cross-sectional study was done in Kochi on 525 elderly women aged 60 years and above, selected by cluster random sampling, after getting consent, using a questionnaire. The overall prevalence of UI was found to be 64% (95% confidence interval (CI) 59.5–67.6). The most common type of UI was found to be the urge type of incontinence (38.3%, 95% CI, 34.14–42.45). Chronic cough (odds ratio [OR] 1.754, 95% 1.170–2.631), chronic constipation (OR: 1.563, 95% CI: 1.030–2.373), obesity (OR: 1.591, 95% CI: 1.110–2.280), diabetes (OR: 1.517, 95% CI: 1.036–2.222), and taking medications for diabetes and hypertension (OR: 1.476, 95% 1.008–2.163) were found to be risk factors of UI. Multiparity (OR: 1.757, 95% CI: 1.073–2.876), delivery at home (OR: 1.761, 95% CI: 1.205–2.575), undergoing any pelvic surgery (OR: 1.504, 95% CI: 1.052–2.150) were the gynecological and obstetric factors associated with UI. Context: Very few community-based studies are available on UI among elderly women. Aim: The primary objective of the study was to estimate the prevalence of UI among elderly women residing in the Kochi corporation. The secondary objective was to determine the risk factors of UI. Settings and Design: A community-based cross-sectional study was done in the Kochi Corporation of Ernakulam district. Subjects and Methods: A pilot study was conducted and based on this, the sample size was computed to be 72.41. Data from 525 individuals were collected using cluster random sampling. A questionnaire for urinary incontinence diagnosis questionnaire was used for assessing the type of UI. Statistical Analysis Used: Percentage prevalence, Chi-square test. Results: The overall prevalence of UI was found to be 64%. The most common type of UI was found to be the urge type of incontinence. Chronic cough, chronic constipation, obesity, diabetes, taking medications for diabetes, and hypertension were found to be risk factors of UI. Multiparity, delivery at home, and undergoing any pelvic surgery were the gynecological and obstetric factors associated with UI. Conclusions: The prevalence of UI among elderly women in this study was found to be 63.9%. The most common type of UI was found to be urge type of incontinence 38.3%, followed by mixed incontinence 32.3%, and stress incontinence 29.3%. Chronic cough (OR: 1.754), chronic constipation (OR: 1.563), obesity (OR: 1.591), diabetes (OR: 1.517), and taking medications for diabetes and hypertension (OR: 1.476) were found to be risk factors for UI. Multiparity (OR: 1.757), delivery at home (OR: 1.761) and undergoing any pelvic surgery (OR: 1.504) were the gynecological and obstetric factors associated with UI among elderly women in this study. Chronic cough (adjusted odds ratio [aOR] 1.64, 95% CI: 1.08–2.50), obesity (aOR: 1.64, 95% CI: 1.13–2.39), pelvic surgery (aOR: 1.64, 95% CI: 1.13–2.39), and delivery at home (aOR: 1.89, 95% CI: 1.27–2.82) were found to be independent risk factors for UI among elderly women

Assessment of vaccine coverage and associated factors among children in urban agglomerations of Kochi, Kerala, India

Context: Urban population in India is growing exponentially. The public sector urban health delivery system has so far been limited in its reach and is far from adequate. Aims: This study aims to estimate routine immunization coverage and associated factors among children (12–23 months and 60–84 months) in the urban Kochi Metropolitan Area of Kerala. Settings and Design: A cross-sectional study was conducted in Kochi Metropolitan area. Materials and Methods: A cluster sampling technique was used to collect data on immunization status from 310 children aged between 12 and 23 months and 308 children aged between 60 and 84 months. Statistical Analysis: Crude coverage details for each vaccine were estimated using percentages and confidence intervals. Bivariate and multivariate analysis were conducted to identify factors associated with immunization coverage. Results: Among the children aged 12–23 months, 89% (95% CI 85.5%-92.5%) were fully immunized, 10% were partially immunized, and 1% unimmunized. Less than 10 years of schooling among mothers (OR 2.40, 95% CI 1.20–4.81) and living in a nuclear family (OR 1.72, 95% CI 1.06–3.14) were determinants associated with partial or unimmunization of children as per multivariate analysis. The coverage of individual vaccines was found to decrease after 18 months from 90% to 75% at 4–5 years for Diphtheria Pertussis Tetanus (DPT) booster. Bivariate analysis found lower birth order and belonging to the Muslim religion as significant factors for this decrease. Conclusion: Education of the mother and nuclear families emerged as areas of vulnerability in urban immunization coverage. Inadequate social support and competing priorities with regard to balancing work and home probably lead to delay or forgetfulness in vaccination. Therefore, a locally contextualized comprehensive strategy with strengthening of the primary health system is needed to improve the immunization coverage in urban areas