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BACKGROUND: In 2020, almost 100 million people were blind or visually impaired from cataract. Cataract surgery is a cost-effective treatment for cataracts. In Nigeria, twice as many women are cataract blind as men. Cataract surgical rate (CSR, the number of cataract operations per million population per year in a defined geographical location) is an output indicator of cataract surgical services. The recommended target CSR for sub-Saharan Africa is 1000/year. The aim of this study was to assess the CSR in men and women in Imo state, Nigeria. METHODS: A retrospective review of cataract surgery undertaken in all eye health facilities in Imo State in 2019. Data collected included the type and location of facilities, patient demographics and the number and type of cataract operations performed in each facility. The CSR was calculated overall, in men and women, and in younger and older women. RESULTS: The CSR overall was 330/million and was slightly higher in women (347/million) than in men (315/million) (p<0.001). More elderly women (≥65 years) accessed cataract surgery through outreach than men and younger women (OR 1.5 (95% CI 1.03 to 2.22, p=0.03) and 1.6 (95% CI 1.07 to 2.44, p=0.02)), respectively. CONCLUSION: The overall CSR in Imo state was approximately one-third of that recommended for sub-Saharan Africa. Although the CSR was higher in women than in men, considerably higher CSRs are needed in women to address their higher burden of cataract blindness. Operational and intervention science research are needed, to identify and evaluate interventions which address demand and supply barriers to accessing cataract surgery, particularly for elderly women.
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Extração de Catarata , Catarata , Humanos , Extração de Catarata/estatística & dados numéricos , Nigéria/epidemiologia , Feminino , Masculino , Estudos Retrospectivos , Idoso , Pessoa de Meia-Idade , Catarata/epidemiologia , Equidade de Gênero , Adulto , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Distribuição por Sexo , Idoso de 80 Anos ou mais , Cegueira/epidemiologia , Cegueira/etiologiaRESUMO
OBJECTIVE: Transient hyperinsulinism (THI) is the most common form of recurrent hypoglycaemia in neonates beyond the first week of life. Although self-resolving, treatment can be required. Consensus guidelines recommend the lower end of the diazoxide 5-15 mg/kg/day range in THI to reduce the risk of adverse events. We sought to determine if doses <5 mg/kg/day of diazoxide can be effective in THI. DESIGN, PATIENTS, MEASURMENTS: Infants with THI (duration <6 months) were treated with low-dose diazoxide from October 2015 to February 2021. Dosing was based on weight at diazoxide start: 2 mg/kg/day in infants 1000-2000 g (cohort 1), 3 mg/kg/day in those 2000-3500 g (cohort 2) and 5 mg/kg/day in those >3500 g. RESULTS: A total of 73 infants with THI (77% male, 33% preterm, 52% small-for-gestational age) were commenced on diazoxide at a median age of 11 days (range 3-43) for a median duration of 4 months (0.3-6.8), with no difference between cohorts. The mean effective diazoxide dose was 3 mg/kg/day (range 1.5-10); 35% (26/73) required an increase from their starting dose, including 60% (9/15) of cohort 1. There was no association between perinatal stress risk factors or treatment-related characteristics and dose increase. Adverse events occurred in 13 patients (18%); oedema (12%) and hyponatraemia (5%) were the most common. Two infants developed suspected necrotising enterocolitis (NEC); none had pulmonary hypertension. CONCLUSION: Diazoxide doses <5 mg/kg/day are effective in THI. While the nature of the association between diazoxide and NEC was unclear, other adverse events were mild. We suggest considering starting doses as low as 2-3 mg/kg/day in THI to balance the side effect risk while maintaining euglycaemia.
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Hiperinsulinismo Congênito , Hiperinsulinismo , Hipoglicemia , Lactente , Feminino , Recém-Nascido , Humanos , Masculino , Diazóxido/efeitos adversos , Hipoglicemia/tratamento farmacológico , Recém-Nascido Pequeno para a Idade Gestacional , Fatores de Risco , Hiperinsulinismo/tratamento farmacológico , Hiperinsulinismo Congênito/tratamento farmacológicoRESUMO
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic component and is often unresponsive to standard medical therapy options. The treatment of CHI can be multifaceted and complex, requiring multidisciplinary input. It is important to manage hypoglycaemia in CHI promptly as the risk of long-term neurodisability arising from neuroglycopaenia is high. The UK CHI consensus on the practice and management of CHI was developed to optimise and harmonise clinical management of patients in centres specialising in CHI as well as in non-specialist centres engaged in collaborative, networked models of care. Using current best practice and a consensus approach, it provides guidance and practical advice in the domains of diagnosis, clinical assessment and treatment to mitigate hypoglycaemia risk and improve long term outcomes for health and well-being.
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Hiperinsulinismo Congênito , Criança , Lactente , Humanos , Pré-Escolar , Consenso , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/terapia , Pancreatectomia , Reino UnidoRESUMO
BACKGROUND AND OBJECTIVES: Retinopathy of prematurity is an increasingly important cause of blindness in children in low- and middle-income countries. Timely screening and treatment greatly reduce blindness. This study assessed the impact of the COVID-19 pandemic on ROP services in low- and middle-income countries. METHODS: An online survey with closed and open-ended questions in Microsoft Teams was sent to 304 ophthalmologists providing screening, treatment and/or vitreoretinal services (January 15 to March 12 2021). Categories were used to report impact on services. 28 participants were purposively selected for interview. RESULTS: 184/201 completed forms from 32 countries were received. Two thirds of participants worked in government facilities and 45.6% were paediatric ophthalmologists. A moderate to severe impact was reported by 13% for screening, 9% for treatment and 16% for vitreoretinal surgery with some variation between government, private and not-for-profit sectors. 22% thought services would take a year to recover. Fifteen ophthalmologists from 12 countries were interviewed. Many reported fewer neonatal admissions, and several reported more ROP blind infants once restrictions lifted. Themes associated with services continuing included limited lockdown, autonomy and flexibility, commitment, advocacy and technology. Themes associated with a negative impact include fear and panic, closure of facilities, COVID infection or quarantining of health workers and parents, lack of transport and exacerbation of poverty. CONCLUSIONS: The COVID pandemic had a very variable impact on the provision of ROP services. In some countries where the impact was great, more infants may have become blind from ROP. Lessons can be learnt for planning pandemic preparedness.
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Objective: Continuous glucose monitoring (CGM) is the standard of care for glucose monitoring in children with diabetes, however there are limited data reporting their use in hyperinsulinaemic hypoglycaemia (HH). Here, we evaluate CGM accuracy and its impact on quality of life in children with HH. Methods: Real-time CGM (Dexcom G5 and G6) was used in children with HH aged 0-16years. Data from self-monitoring capillary blood glucose (CBG) and CGM were collected over a period of up to 28days and analysed. Quality of life was assessed by the PedsQL4.0 general module and PedsQL2.0 family impact module, completed by children and their parents/carers before and after CGM insertion. Analysis of accuracy metrics included mean absolute relative difference (MARD) and proportion of CGM values within 15, 20, and 30% or 15, 20, and 30 mg/dL of reference glucose values >100 mg/dL or ≤100 mg/dL, respectively (% 15/15, % 20/20, % 30/30). Clinical reliability was assessed with Clarke error grid (CEG) analyses. Results: Prospective longitudinal study with data analysed from 40 children. The overall MARD between reference glucose and paired CGM values (n=4,928) was 13.0% (Dexcom G5 12.8%, Dexcom G6 13.1%). The proportion of readings meeting %15/15 and %20/20 were 77.3% and 86.4%, respectively, with CEG analysis demonstrating 97.4% of all values in zones A and B. Within the hypoglycaemia range (<70 mg/dL), the median ARD was 11.4% with a sensitivity and specificity of 64.2% and 91.3%, respectively. Overall PedsQL child report at baseline and endpoint were 57.6 (50.5 - 75.8) and 87.0 (82.9 - 91.2), and for parents were 60.3 (44.8 - 66.0) and 85.3 (83.7 - 91.3), respectively (both p<0.001). Conclusion: Use of CGM for children with HH is feasible, with clinically acceptable accuracy, particularly in the hypoglycaemic range. Quality of life measures demonstrate significant improvement after CGM use. These data are important to explore use of CGM in disease indications, including neonatal and paediatric diabetes, cystic fibrosis and glycogen storage disorders.
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Diabetes Mellitus Tipo 1 , Hiperinsulinismo , Hipoglicemia , Recém-Nascido , Humanos , Criança , Glicemia , Automonitorização da Glicemia , Reprodutibilidade dos Testes , Qualidade de Vida , Estudos Longitudinais , Estudos Prospectivos , Hipoglicemia/diagnósticoRESUMO
Vision loss from cataract is unequally distributed, and there is very little evidence on how to overcome this inequity. This project aimed to engage multiple stakeholder groups to identify and prioritise (1) delivery strategies that improve access to cataract services for under-served groups and (2) population groups to target with these strategies across world regions. We recruited panellists knowledgeable about cataract services from eight world regions to complete a two-round online modified Delphi process. In Round 1, panellists answered open-ended questions about strategies to improve access to screening and surgery for cataract, and which population groups to target with these strategies. In Round 2, panellists ranked the strategies and groups to arrive at the final lists regionally and globally. 183 people completed both rounds (46% women). In total, 22 distinct population groups were identified. At the global level the priority groups for improving access to cataract services were people in rural/remote areas, with low socioeconomic status and low social support. South Asia and Sub-Saharan Africa were the only regions in which panellists ranked women in the top 5 priority groups. Panellists identified 16 and 19 discreet strategies to improve access to screening and surgical services, respectively. These mostly addressed health system/supply side factors, including policy, human resources, financing and service delivery. We believe these results can serve eye health decision-makers, researchers and funders as a starting point for coordinated action to improve access to cataract services, particularly among population groups who have historically been left behind.
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Background: This systematic review assessed the effectiveness of universal screening for newborn eye abnormalities compared with no screening in improving infant vision and health outcomes. Methods: We searched CENTRAL (Cochrane Library), MEDLINE, Embase, Global Health, Global Index Medicus, clinical trials databases, and bibliographies of relevant articles. We included randomized and observational studies of all newborns, regardless of illness or risk factors, that compared universal screening for any eye abnormality by eight weeks of age with no universal screening. Two authors independently selected studies, extracted data, and evaluated the risk of bias. We used GRADE to assess the certainty of evidence. We also reviewed available recommendations on newborn eye screening. Results: Fourteen studies were identified but only three compared universal red reflex screening with no screening. Findings suggest that universal red reflex testing in maternity wards (MWs) may increase the number of newborns with congenital cataracts referred for eye care from MWs or well-baby clinics (WBCs) in the first year of life (risk ratio (RR) = 9.83, 95% confidence interval (CI) = 1.36-71.20; low certainty evidence). However, the effect of screening in WBC is uncertain (RR = 6.62, 95% CI = 0.87-50.09). The effect of MW or WBC screening on referral from any health care facility (MWs, WBCs, paediatrician clinic, other) in the first year is uncertain (MW screening: RR = 1.22, 95% CI = 0.63-2.39; WBC screening: RR = 0.97, 95% CI = 0.46-2.05). However, referral or surgery by 6 weeks of age may be higher with universal MW screening (early referral: RR = 4.61, 95% CI = 1.12-19.01; early surgery: RR = 8.23, 95% CI = 1.13-59.80; low certainty evidence). The effect of WBC screening on early referral and surgery is uncertain (early referral: RR = 1.98, 95% CI = 0.43-9.19; early surgery: RR = 3.97, 95% CI = 0.50-31.33; very low certainty evidence). Universal red reflex testing may increase clinical conjunctivitis (OR = 1.22, 95% CI = 1.01-1.47; low certainty evidence) but the effect on confirmed bacterial conjunctivitis is uncertain (OR = 1.20, 95% CI = 0.76-1.90; very low-certainty evidence). Nine guidelines recommended universal newborn eye screening using red reflex testing. Conclusions: Evidence supports the role of red reflex testing shortly after birth to increase early identification, referral, and surgery for congenital cataracts.
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Catarata , Lactente , Humanos , Recém-Nascido , Feminino , GravidezRESUMO
Context: In focal congenital hyperinsulinism (CHI), localized clonal expansion of pancreatic ß-cells causes excess insulin secretion and severe hypoglycemia. Surgery is curative, but not all lesions are amenable to surgery. Objective: We describe surgical and nonsurgical outcomes of focal CHI in a national cohort. Methods: Patients with focal CHI were retrospectively reviewed at 2 specialist centers, 2003-2018. Results: Of 59 patients with focal CHI, 57 had heterozygous mutations in ABCC8/KCNJ11 (51 paternally inherited, 6 de novo). Fluorine-18 L-3,4 dihydroxyphenylalanine positron emission tomography computed tomography scan identified focal lesions in 51 patients. In 5 patients, imaging was inconclusive; the diagnosis was established by frozen section histopathology in 3 patients, a lesion was not identified in 1 patient, and 1 declined surgery. Most patients (n = 56) were unresponsive to diazoxide, of whom 33 were unresponsive or partially responsive to somatostatin receptor analog (SSRA) therapy. Fifty-five patients underwent surgery: 40 had immediate resolution of CHI, 10 had persistent hypoglycemia and a focus was not identified on biopsy in 5. In the 10 patients with persistent hypoglycemia, 7 underwent further surgery with resolution in 4 and ongoing hypoglycemia requiring SSRA in 3. Nine (15% of cohort) patients (1 complex surgical access; 4 biopsy negative; 4 declined surgery) were managed conservatively; medication was discontinued in 8 children at a median (range) age 2.4 (1.5-7.7) years and 1 remains on SSRA at 16 years with improved fasting tolerance and reduction in SSRA dose. Conclusion: Despite a unifying genetic basis of disease, we report inherent heterogeneity in focal CHI patients impacting outcomes of both surgical and medical management.
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PURPOSE: Owing to the paucity of literature on Indian children with periventricular leukomalacia (PVL), this retrospective study aimed to describe the visual and associated developmental abnormalities in a series of affected children attending a tertiary level eye care facility. METHODS: Children with radiologically confirmed PVL who attended the Pediatric Department of a tertiary eye hospital were included and underwent a detailed ocular and general developmental assessment. RESULTS: Of the 75 children, the mean age was 2.3 years, the mean follow-up was 3.1 years, 68% were males and 43% were born preterm. Grade I PVL was identified in 13 children (17%), Grade 2 PVL in 39 (52%), and Grade 3 PVL in 23 (31%). Premies with ≤2 kg (72.5%) and term babies with >2 kg (75%) had a greater association of PVL occurrence with a preponderance to severe PVL; 46% of the children were visually impaired which was significantly higher in the children with Grade 3 PVL (74%) than those with Grade 2 PVL (15%). Strabismus was common (80%) with a change in deviation over time. Seventy-one percent of the children had a refractive error, frequently myopic astigmatism. All the children except two had a delay in one or more general developmental milestones. CONCLUSION: PVL occurrence is observed both in the babies born at term and premies, resulting in significant ocular and systemic morbidities. We recommend a system in place for early identification and referral to initiate an early intervention program which goes a long way toward improving the quality of life in these children.
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Leucomalácia Periventricular , Estrabismo , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Leucomalácia Periventricular/complicações , Leucomalácia Periventricular/diagnóstico , Leucomalácia Periventricular/epidemiologia , Masculino , Qualidade de Vida , Estudos Retrospectivos , Estrabismo/complicaçõesRESUMO
Diazoxide is the first-line treatment in children with hyperinsulinaemic hypoglycaemia (HH); however, limited information is available on the duration of diazoxide treatment in children who require over 2 years of it. Hence, we retrospectively reviewed the clinical and biochemical aspects, as well as the duration of therapy and neurodevelopmental assessment, in genetically uncharacterised diazoxide-responsive HH patients admitted to a tertiary hospital over the last 16 years, who had successfully discontinued diazoxide and remained euglycaemic. To exclude transient HH forms, only patients that required diazoxide for over 2 years were studied. We identified a total of 17 patients (70% males), in whom HH was diagnosed between 1 day and 18 months of age, and 88% were born at term with a median birth weight of 3.79 kg. All children responded to diazoxide at a median dose of 11.5 mg/kg/day, and it was stopped at a median age of 8.5 years, with a median duration of therapy of 7.25 years. The cases that required diazoxide the longest manifested no specific biochemical or clinical characteristics. Fasting tests performed after diazoxide discontinuation showed no longer requirement of diazoxide in all the cases. A total of 64.7% of the children showed mild to moderate developmental delay. Therefore, it seems that long-term resolution of HH in children with negative genetics for KATP channel genes who required diazoxide for over 2 years will ensue, and thus regular evaluation is crucial. The possible molecular mechanisms involved are unclear.
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Hiperinsulinismo Congênito , Diazóxido , Trifosfato de Adenosina , Criança , Hiperinsulinismo Congênito/tratamento farmacológico , Hiperinsulinismo Congênito/genética , Diazóxido/uso terapêutico , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Bilateral cataract is a significant cause of blindness in children in Ethiopia. This study aimed to identify the resources available for cataract surgery in children, and to assess current surgical practices, surgical output and factors affecting the outcome of surgery in Ethiopia. METHODS: A Google Forms mobile phone questionnaire was emailed to nine ophthalmologists known to perform cataract surgery in young children (0-5 years). RESULTS: All nine responded. All but one had received either 12- or 3-5-month's training in pediatric ophthalmology with hands-on surgical training. The other surgeon had received informal training from an experienced colleague and visiting ophthalmologists. The surgeons were based in seven health facilities: five in the capital (Addis Ababa) and eight in six public referral hospitals and one private center. Over 12 months (2017-2018) 508 children (592 eyes) aged 0-18 years (most < 15 years) were operated by these surgeons. 84 (17%) had bilateral cataract, and 424 (83%) had unilateral cataract mainly following trauma. A mean of 66 (range 18-145) eyes were operated per surgeon. Seventy-one additional children aged > 5 years were operated by other surgeons. There were substantially fewer surgeons per million population (nine for 115 million population) than recommended by the World Health Organization and they were unevenly distributed across the country. Methylcellulose and rigid intraocular lenses were generally available but less than 50% of facilities had a sharp vitrectomy cutter and cohesive viscoelastic. Mean travel time outside Addis Ababa to a facility offering pediatric cataract surgery was 10 h. CONCLUSION: Despite the high number of cases per surgeon, the output for bilateral cataracts was far lower than required. More well-equipped pediatric ophthalmology teams are urgently required, with deployment to under-served areas.
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Extração de Catarata , Catarata , Cirurgiões , Catarata/epidemiologia , Criança , Pré-Escolar , Etiópia/epidemiologia , Humanos , Inquéritos e QuestionáriosRESUMO
PURPOSE: To study the zonal variations in diabetic retinopathy (DR) and associated factors in people with known type 2 diabetes mellitus (T2DM) attending large eye care facilities in different regions of India. METHODS: In this cross-sectional eye-care facility-based study, India was divided into five zones; large eye care facilities with a good referral base and offering an entire range of care for patients with DR were invited. First-time T2DM attendees aged ≥18 years were recruited. All subjects received a comprehensive systemic and ophthalmic examination. DR and systemic diseases were classified as per the international/national standards. Findings were compared between the zones and with the national average. RESULTS: Fourteen eye-care facilities (15% public) from five zones participated. In the cohort of 11,173 people, there were more males (59%); the average age was above 45 years, and in 57%, DM had been diagnosed more than 5 years earlier. Compared with the overall study population, the proportion of people with any DR, sight-threatening DR, and blind were higher in the east zone (42.5%, 95% confidence interval [CI]: 40.2-44.8; 24.3%, 95% CI 22.3-26.3, and 11.5%, respectively); diabetic macular edema was more frequent in the south zone (12.2%, 95% CI 11.2-13.2); people with moderate-to-severe visual impairment were more in the west zone (32.1%) and higher proportion of people in the south-central zone had systemic hypertension (56.8%, 95% CI 54.8-58.9). CONCLUSION: The zonal variation in DR and related vision loss could be related to variable health-seeking behavior, availability, and confidence in the available services.
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Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Edema Macular , Adolescente , Adulto , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Recent reports have suggested a significant change in the causes of blindness in children in low-income countries cataract becoming the leading cause. We aimed to investigate the presentations and surgical outcomes in children with cataract operated at different ages in Tanzania. METHODS: We conducted a prospective study of 228 children aged ≤192 months at three tertiary centres, 177 with bilateral cataracts and prospectively followed them for 1-year postsurgery. We collected demographic, surgical, preoperative and postoperative clinical characteristics using the standard childhood cataract surgical assessment questionnaire. Families were encouraged to return for follow-up by phone with travel reimbursement where necessary. RESULTS: Preoperatively, 76% bilateral children were blind in the better eye. 86% of children were followed up at 1 year and 54% bilateral children achieved visual acuity of 0.48 logMAR or better in the better eye and 5% were blind. 33% of unilateral children achieved visual acuity of 0.48 logMAR or better and 17% were blind. Preoperative blindness (adjusted OR (AOR) 14.65; 95% CI 2.21 to 97.20), preoperative nystagmus/strabismus (AOR 9.22; 95% CI 2.66 to 31.97) and aphakia (AOR, 5.32; 95% CI 1.05 to 26.97) predicted poor visual outcome in bilateral cases. 9% of 342 refracted eyes had initial postoperative cylinder of 1.5 D or more, as did a similar proportion (11%) of 315 eyes refracted 1 year after surgery. Acute fibrinous uveitis occurred in 41 (12%) eyes. CONCLUSION: Three-quarters of children were blind preoperatively whereas over half had good vision 1-year postoperatively. Preoperative blindness, nystagmus/strabismus and aphakia predicted poor visual outcome, suggesting that cataract density determines density of amblyopia.
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Extração de Catarata/métodos , Catarata/epidemiologia , Refração Ocular/fisiologia , Acuidade Visual , Catarata/fisiopatologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Masculino , Estudos Prospectivos , Tanzânia/epidemiologia , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND/OBJECTIVES: Late presentation of congenital cataract in the developing world has led to poor outcomes such that cataract is the leading cause of childhood blindness. Our hypothesis was that, sensitivity of red-reflex testing is greater than sensitivity of torchlight examination. We aimed to compare sensitivity of new red reflex screening tools and assess the feasibility of Arclight red reflex screening in the community. SUBJECT/METHODS: We compared the diagnostic accuracy of four different screening tools for cataract and retinoblastoma performed by ophthalmic nurses, using a clinic based enriched sample of 41 positives and 60 negatives. We then conducted a separate feasibility study, training non-specialist community nurses. Following the training, community nurses examined 2827 children <5 years with Arclight who were attending their clinics for growth monitoring and immunisation. FINDINGS: Diagnostic accuracy study: estimated sensitivities were 97.6% for Catcam, 92.7% for Arclight, 90.2% for PEEK retina and 7.3% for torchlight. Estimated specificities were above 90% for Catcam, Arclight and torchlight and 87% for PEEK retina. Feasibility study: twenty-four out of 2728 children screened failed community screening, seven were true positive (six cataract, one retinoblastoma). Prevalence of bilateral cataract was 1.5/1000 (95% CI: 0.40-3.75 per 1000). CONCLUSIONS: Arclight and CatCam have higher sensitivity than torchlight, are easy to learn and use by primary health care nurses. Red reflex testing should be recommended in the WHO guidelines instead of torchlight examination to help early detection of potential blinding causes including congenital cataract and retinoblastoma.
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Catarata , Saúde da Criança , Catarata/diagnóstico , Catarata/epidemiologia , Criança , Estudos Transversais , Estudos de Viabilidade , Humanos , Reflexo , Tanzânia/epidemiologiaRESUMO
OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith-Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a tertiary centre aims at estimating the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. METHODS: We performed a retrospective study of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. RESULTS: Biochemical investigations confirmed HH in all the cases and several genetic diagnoses were established. Responsiveness to medications and the final outcome following medical treatment or surgery were studied. CONCLUSIONS: This study highlights the association of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH-associated syndromes should be monitored for hypoglycaemia. If hypoglycaemia is documented, they should also be screened for possible HH. Our data indicate that most syndromic forms of HH are diazoxide-responsive and that HH resolves over time; however, a significant percentage continues to require medications years after the onset of the disease. Early diagnosis of hyperinsulinism and initiation of treatment is important for preventing hypoglycaemic brain injury and intellectual disability.
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Hiperinsulinismo Congênito , Criança , Hiperinsulinismo Congênito/tratamento farmacológico , Hiperinsulinismo Congênito/genética , Diazóxido/uso terapêutico , Seguimentos , Humanos , Lactente , Estudos Retrospectivos , SíndromeRESUMO
OBJECTIVES: Two hundred thousand children worldwide are blind from cataract. Late presentation for surgery resulting in poor visual outcomes is a problem globally. We aimed to explore the reasons why children are not brought earlier for surgery in Nepal. METHODS AND ANALYSIS: Mixed-method study of carers of children with bilateral cataract attending a large non-government eye hospital were administered a proforma. A random sample took part in semistructured interviews and focus group discussions. RESULTS: Carers of 102 children completed proformas; 10 interviews and 2 focus group discussions were held. 80.4% were Indian, 35.3% of children were female, and their mean age was 58 months (range 4 months to 10 years). Median delay in time between the carer first noticing a problem to presentation was 182 days IQR (60.8-364.8). This was significantly longer for girls (median 304 IQR (91.2-1094.4)) than boys (median 121.6 IQR (30.4-364.8); p=0.02). Cost to access care was a problem for 42 (41.2%) carers. 13 (12.8%) participants were not aware of treatment and 12 (11.8%) were aware but did not seek treatment. The community influenced carer's health-seeking behaviour. Cataract was sometimes described as 'phula', meaning something white seen on the eye. CONCLUSION: Fewer girls presented for surgery, and they also had a significantly longer delay to presentation than boys. Carers are influenced by factors at family, community and socio-organisational levels. Approaches to increase timely access, particularly by girls, are required, such as health education using the term phula, which is widely understood.
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Purpose: Diabetes is a public health concern in India and diabetic retinopathy (DR) is an emerging cause of visual impairment and blindness. Approximately 3.35-4.55 million people with diabetes mellitus (PwDM) are at risk of vision-threatening DR (VTDR) in India. More than 2/3 of India's population resides in rural areas where penetration of modern medicine is mostly limited to the government public health system. Despite the increasing magnitude, there is no systematic screening for the complications of diabetes, including DR in the public health system. Therefore, a pilot project was initiated with the major objectives of management of DR at all levels of the government health system, initiating a comprehensive program for the detection of eye complications among PwDM at public health noncommunicable disease (NCD) clinics, augmenting the capacity of physicians, ophthalmologists and health support personnel and empowering carers/PwDM to control the risk of DR through increased awareness and self-management. Methods: A national task force (NTF) was constituted to oversee policy formulation and provide strategic direction. 10 districts were identified for implementation across 10 states. Protocols were developed to help implement training and service delivery. Results: Overall, 66,455 PwDM were screened and DR was detected in 16.2% (10,765) while VTDR was detected in 7.5%. 10.1% of those initially screened returned for the next annual assessment. There was a 7-fold increase in the number of PwDM screened and a 7.6-fold increase in the number of PwDM treated between 2016 and 2018. Conclusion: Services for detecting and managing DR can be successfully integrated into the existing public health system.
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Retinopatia Diabética/diagnóstico , Conhecimentos, Atitudes e Prática em Saúde , Programas de Rastreamento/métodos , Vigilância da População , Saúde Pública , Retinopatia Diabética/epidemiologia , Feminino , Humanos , Índia/epidemiologia , Masculino , Morbidade/tendências , Projetos Piloto , Estudos Retrospectivos , Fatores de RiscoRESUMO
Purpose: A community-based intervention to compare the effectiveness of pamphlets and videos as education material to promote diabetic retinopathy (DR) screening in urban slums of Hyderabad and to identify barriers/facilitators for compliance with DR screening. Methods: A cross-sectional survey among people with diabetes (sample of 267) was followed by a health education intervention where patients were allocated into two groups (121 received pamphlets and 102 attended video sessions). The effectiveness of the intervention was assessed based on the uptake of DR screening. The facilitating factors and barriers to DR screening were explored through semi-structured interviews and focus group discussions with participants and health workers. Data analysis included Chi-square test for quantitative data and thematic analysis for qualitative data. Results: Among the 235 people in the health education intervention study, 131 (55.7%) received the pamphlet and 104 (44.3%) watched the educational videos. The uptake of DR screening within 2 months was higher in the group shown the educational video than who received the pamphlet (32.7% vs 11.45%; P < 0.05). Absence of an accompanying person and good vision were barriers that prevented patients from screening. Realization of consequences of DR and proximity of the screening facility were identified as motivators. The major results we found in the initial survey of 267 people were that 74.5% had never had HbA1c test and locals underwent health check-ups more regularly than migrants (62.2% versus 34%; P < 0.05). Conclusion: Educational videos led to greater behavior change than pamphlets in motivating diabetics for DR screening.