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1.
Mol Vis ; 27: 17-25, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33633436

RESUMO

Purpose: Progressive inherited retinal dystrophies, characterized by degeneration of rod photoreceptors and then cone photoreceptors, are known as retinitis pigmentosa (RP), for which 89 genes have been identified. Today, only five Moroccan families with RP with a genetic diagnosis have been reported, justifying our investment in providing further clinical and genetic investigations of families with RP in Morocco. Methods: The clinical diagnosis based on a combination of a history of night blindness, abnormal rod or rod-cone responses in electroretinography (ERG), and constricted visual field or difficulty perceiving side objects identified three Moroccan families with an RP phenotype. Probands of these families underwent whole exome sequencing (WES), and candidate variants were evaluated for their segregation within family members. Results: All patients had a history of night blindness and unrecordable rod and cone ERG traces. In addition, one patient had cystoid macular edema, and another had discrete autofluorescence abnormalities, in addition to ellipsoid zone disorganization and narrowed retinal vessels. WES sequencing revealed heterozygous compound mutations in CRB1:c.1690G>T//c.1913C>T and in ABCA4:c.5908C>T//c.6148G>C and a homozygous PDE6B splice mutation c.1920+2T>C. Conclusions: We provide the first description of Moroccan patients with the RP phenotype harboring pathogenic mutations in the CRB1 and ABCA4 genes and the second description of an individual with RP with a PDE6B mutation, associated with cystoid macular edema. These data contribute to expand the genetic diagnosis of RP phenotypes in Morocco.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , População Negra/genética , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Proteínas do Olho/genética , Proteínas de Membrana/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Retinite Pigmentosa/genética , Adolescente , Consanguinidade , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Humanos , Masculino , Marrocos/epidemiologia , Cegueira Noturna/diagnóstico por imagem , Cegueira Noturna/epidemiologia , Cegueira Noturna/genética , Cegueira Noturna/fisiopatologia , Linhagem , Fenótipo , Retinite Pigmentosa/diagnóstico por imagem , Retinite Pigmentosa/epidemiologia , Retinite Pigmentosa/fisiopatologia , Interação Cone-Bastonete/genética , Tomografia de Coerência Óptica , Campos Visuais , Sequenciamento do Exoma , Adulto Jovem
2.
Acta Ophthalmol ; 99(6): 581-591, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33369259

RESUMO

Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone-rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.


Assuntos
Proteínas de Ligação ao Cálcio/genética , DNA/genética , Oftalmopatias Hereditárias/epidemiologia , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Mutação , Miopia/epidemiologia , Cegueira Noturna/epidemiologia , Retina/fisiopatologia , Canais de Cátion TRPM/genética , Proteínas de Ligação ao Cálcio/metabolismo , Análise Mutacional de DNA , Eletrorretinografia , Oftalmopatias Hereditárias/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Incidência , Miopia/congênito , Miopia/genética , Cegueira Noturna/congênito , Cegueira Noturna/genética , Linhagem , Fenótipo , Arábia Saudita/epidemiologia , Canais de Cátion TRPM/metabolismo
3.
Middle East Afr J Ophthalmol ; 27(2): 86-90, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32874040

RESUMO

PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio ≤1 in the scotopic flash ERG response, indicates relative inner retinal dysfunction. Causes vary depending upon the study population. In the Arabian Gulf, where inherited retinal disease is relatively prevalent, common diagnoses associated with electronegative ERGs have not been described. In this study, we report the frequency and causes of electronegative ERGs in a cohort of Emirati patients with inherited retinal disease. METHODS: A retrospective review was performed of all full-field ERGs done for Emirati patients in the Ocular Genetics Service of Cleveland Clinic Abu Dhabi from January 2017 to December 2019. Those who had an electronegative ERG in at least one eye were included in the study. RESULTS: Out of 137 patients, 9 probands (6.6%) had an electronegative ERG. The mean age at presentation was 24 years (range 5-48 years), and five patients (55.6%) were male. The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related and one Oguchi disease), X-linked retinoschisis (XLRS) (one genetically confirmed and two not genetically tested), cone-rod dystrophy (one CRX-related and one not genetically tested), and enhanced S-cone syndrome (ESCS) (one NRL-related). The one patient who did not have bilateral electronegative ERGs was a male with XLRS whose fellow eye had an unrecordable ERG. CONCLUSIONS: In this series of Emirati patients, an electronegative ERG was most commonly associated with the inherited retinal diseases recessive CSNB and XLRS. An electronegative ERG was noted in a case of NRL-related ESCS.


Assuntos
Distrofias de Cones e Bastonetes/fisiopatologia , Eletrorretinografia , Oftalmopatias Hereditárias/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Miopia/fisiopatologia , Cegueira Noturna/fisiopatologia , Retina/fisiopatologia , Degeneração Retiniana/fisiopatologia , Retinosquise/fisiopatologia , Transtornos da Visão/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Distrofias de Cones e Bastonetes/epidemiologia , Oftalmopatias Hereditárias/epidemiologia , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Miopia/epidemiologia , Cegueira Noturna/epidemiologia , Degeneração Retiniana/epidemiologia , Retinosquise/epidemiologia , Estudos Retrospectivos , Emirados Árabes Unidos/epidemiologia , Transtornos da Visão/epidemiologia , Adulto Jovem
4.
Neurology ; 94(6): e564-e574, 2020 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-31941797

RESUMO

OBJECTIVE: To validate the current criteria of visual snow and to describe its common phenotype using a substantial clinical database. METHODS: We performed a web-based survey of patients with self-assessed visual snow (n = 1,104), with either the complete visual snow syndrome (n = 1,061) or visual snow without the syndrome (n = 43). We also describe a population of patients (n = 70) with possible hallucinogen persisting perception disorder who presented clinically with visual snow syndrome. RESULTS: The visual snow population had an average age of 29 years and had no sex prevalence. The disorder usually started in early life, and ≈40% of patients had symptoms for as long as they could remember. The most commonly experienced static was black and white. Floaters, afterimages, and photophobia were the most reported additional visual symptoms. A latent class analysis showed that visual snow does not present with specific clinical endophenotypes. Severity can be classified by the amount of visual symptoms experienced. Migraine and tinnitus had a very high prevalence and were independently associated with a more severe presentation of the syndrome. CONCLUSIONS: Clinical characteristics of visual snow did not differ from the previous cohort in the literature, supporting validity of the current criteria. Visual snow likely represents a clinical continuum, with different degrees of severity. On the severe end of the spectrum, it is more likely to present with its common comorbid conditions, migraine and tinnitus. Visual snow does not depend on the effect of psychotropic substances on the brain.


Assuntos
Transtornos da Percepção/fisiopatologia , Transtornos da Visão/fisiopatologia , Adulto , Pós-Imagem , Comorbidade , Endofenótipos , Feminino , Alucinógenos/efeitos adversos , Humanos , Análise de Classes Latentes , Masculino , Transtornos de Enxaqueca/epidemiologia , Enxaqueca com Aura/epidemiologia , Cegueira Noturna/epidemiologia , Cegueira Noturna/fisiopatologia , Transtornos da Percepção/induzido quimicamente , Transtornos da Percepção/epidemiologia , Fotofobia/epidemiologia , Fotofobia/fisiopatologia , Prevalência , Índice de Gravidade de Doença , Síndrome , Zumbido/epidemiologia , Transtornos da Visão/induzido quimicamente , Transtornos da Visão/epidemiologia , Visão Intraocular , Adulto Jovem
5.
PLoS One ; 14(7): e0219203, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31269067

RESUMO

Nutrition during pregnancy is one of the key elements to good maternal and child health, as well as to lifetime landmarks. However, many pregnant women go undernourished in less developed settings. The purpose of this study was to estimate the prevalence and factors associated with gestational night blindness (GXN) and maternal anemia in a cross-sectional population-based study in Cruzeiro do Sul, Acre State, Western Brazilian Amazon. All women living in the municipality admitted at the only maternity-hospital in the city to delivery of a singleton infant were eligible to this study (n = 1,525). Recruitment of participants took place between July 2015 to June 2016. GXN was assessed in the postpartum period by WHO standardized interview. Maternal anemia was defined as hemoglobin at delivery < 110.0 g/L. We estimated prevalence rates and adjusted prevalence ratios (aPR), alongside 95% confidence intervals (95% CI), of the factors associated with the outcomes through multiple Poisson regression models with robust variance. Alarming prevalence of GXN (11.5%; 95% CI, 9.97-13.25) and maternal anemia (39.4%; 95% CI, 36.84-41.95) were found. Factors associated with GXN were (aPR; 95% CI): ≥ 5 residents in the household (2.06; 1.24-3.41), smoking during pregnancy (1.78; 1.15-2.78), and attending < 6 antenatal care visits (1.61; 1.08-2.40). Factors associated with maternal anemia were (aPR; 95% CI): maternal age < 19 years (1.18; 1.01-1.38), gestational malaria (1.22; 1.01-1.49), not taking micronutrient supplements during pregnancy (1.27; 1.01-1.62), and attending < 6 antenatal care visits (1.40; 1.15-1.70). High prevalence rates of GXN and maternal anemia in these postpartum women may reflect poor assistance during antenatal care, underlying the importance of rethinking current protocols related to nutrition in pregnancy.


Assuntos
Anemia/epidemiologia , Cegueira Noturna/epidemiologia , Período Pós-Parto , Complicações na Gravidez/epidemiologia , Inquéritos e Questionários , Adulto , Biomarcadores/metabolismo , Brasil/epidemiologia , Feminino , Humanos , Gravidez , Resultado da Gravidez , Prevalência
6.
Cochrane Database Syst Rev ; 3: CD008524, 2017 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-28282701

RESUMO

BACKGROUND: Vitamin A deficiency (VAD) is a major public health problem in low- and middle-income countries, affecting 190 million children under five years of age and leading to many adverse health consequences, including death. Based on prior evidence and a previous version of this review, the World Health Organization has continued to recommend vitamin A supplementation for children aged 6 to 59 months. There are new data available from recently published randomised trials since the previous publication of this review in 2010, and this update incorporates this information and reviews the evidence. OBJECTIVES: To assess the effects of vitamin A supplementation (VAS) for preventing morbidity and mortality in children aged six months to five years. SEARCH METHODS: In March 2016 we searched CENTRAL, Ovid MEDLINE, Embase, six other databases, and two trials registers. We also checked reference lists and contacted relevant organisations and researchers to identify additional studies. SELECTION CRITERIA: Randomised controlled trials (RCTs) and cluster-RCTs evaluating the effect of synthetic VAS in children aged six months to five years living in the community. We excluded studies involving children in hospital and children with disease or infection. We also excluded studies evaluating the effects of food fortification, consumption of vitamin A rich foods, or beta-carotene supplementation. DATA COLLECTION AND ANALYSIS: For this update, two reviewers independently assessed studies for inclusion and abstracted data, resolving discrepancies by discussion. We performed meta-analyses for outcomes, including all-cause and cause-specific mortality, disease, vision, and side effects. We used the GRADE approach to assess the quality of the evidence. MAIN RESULTS: We identified 47 studies (4 of which are new to this review), involving approximately 1,223,856 children. Studies took place in 19 countries: 30 (63%) in Asia, 16 of these in India; 8 (17%) in Africa; 7 (15%) in Latin America, and 2 (4%) in Australia. About one-third of the studies were in urban/periurban settings, and half were in rural settings; the remaining studies did not clearly report settings. Most of the studies included equal numbers of girls and boys and lasted about a year. The included studies were at variable overall risk of bias; however, evidence for the primary outcome was at low risk of bias. A meta-analysis for all-cause mortality included 19 trials (1,202,382 children). At longest follow-up, there was a 12% observed reduction in the risk of all-cause mortality for vitamin A compared with control using a fixed-effect model (risk ratio (RR) 0.88, 95% confidence interval (CI) 0.83 to 0.93; high-quality evidence). This result was sensitive to choice of model, and a random-effects meta-analysis showed a different summary estimate (24% reduction: RR 0.76, 95% CI 0.66 to 0.88); however, the confidence intervals overlapped with that of the fixed-effect model. Nine trials reported mortality due to diarrhoea and showed a 12% overall reduction for VAS (RR 0.88, 95% CI 0.79 to 0.98; 1,098,538 participants; high-quality evidence). There was no significant effect for VAS on mortality due to measles, respiratory disease, and meningitis. VAS reduced incidence of diarrhoea (RR 0.85, 95% CI 0.82 to 0.87; 15 studies; 77,946 participants; low-quality evidence) and measles (RR 0.50, 95% CI 0.37 to 0.67; 6 studies; 19,566 participants; moderate-quality evidence). However, there was no significant effect on incidence of respiratory disease or hospitalisations due to diarrhoea or pneumonia. There was an increased risk of vomiting within the first 48 hours of VAS (RR 1.97, 95% CI 1.44 to 2.69; 4 studies; 10,541 participants; moderate-quality evidence). AUTHORS' CONCLUSIONS: Vitamin A supplementation is associated with a clinically meaningful reduction in morbidity and mortality in children. Therefore, we suggest maintaining the policy of universal supplementation for children under five years of age in populations at risk of VAD. Further placebo-controlled trials of VAS in children between six months and five years of age would not change the conclusions of this review, although studies that compare different doses and delivery mechanisms are needed. In populations with documented vitamin A deficiency, it would be unethical to conduct placebo-controlled trials.


Assuntos
Deficiência de Vitamina A/tratamento farmacológico , Vitamina A/administração & dosagem , Vitaminas/administração & dosagem , Causas de Morte , Pré-Escolar , Diarreia/mortalidade , Humanos , Lactente , Sarampo/mortalidade , Meningite/mortalidade , Cegueira Noturna/epidemiologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Transtornos Respiratórios/mortalidade , Infecções Respiratórias/mortalidade , Vitamina A/efeitos adversos , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/mortalidade , Vitaminas/efeitos adversos , Vômito/epidemiologia
7.
Invest Ophthalmol Vis Sci ; 57(15): 6861-6869, 2016 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-28002560

RESUMO

Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography. Results: Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males. Conclusions: Our data support the viewpoint that AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity.


Assuntos
Canais de Cálcio Tipo L/genética , Proteínas de Ligação ao Cálcio/genética , DNA/genética , Oftalmopatias Hereditárias/genética , Previsões , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação , Miopia/genética , Cegueira Noturna/genética , Adolescente , Adulto , Idoso , Canais de Cálcio Tipo L/metabolismo , Proteínas de Ligação ao Cálcio/metabolismo , Criança , Pré-Escolar , Análise Mutacional de DNA , Dinamarca/epidemiologia , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/epidemiologia , Seguimentos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/diagnóstico , Miopia/epidemiologia , Cegueira Noturna/diagnóstico , Cegueira Noturna/epidemiologia , Fenótipo , Reação em Cadeia da Polimerase , Prevalência , Estudos Retrospectivos , Tomografia de Coerência Óptica , Adulto Jovem
8.
Mol Med Rep ; 14(4): 3129-33, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27511724

RESUMO

Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S­antigen (SAG) and G­protein­dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to have characteristic clinical features of Oguchi disease. Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. Homozygosity at position 308, which resides in the catalytic domain of the GRK1 gene, is the cause of Oguchi disease in this Turkish family.


Assuntos
Receptor Quinase 1 Acoplada a Proteína G/genética , Mutação de Sentido Incorreto , Cegueira Noturna/genética , Adolescente , Adulto , Sequência de Aminoácidos , Animais , Criança , Oftalmopatias Hereditárias , Feminino , Receptor Quinase 1 Acoplada a Proteína G/química , Humanos , Masculino , Pessoa de Meia-Idade , Cegueira Noturna/epidemiologia , Linhagem , Filogenia , Alinhamento de Sequência , Turquia/epidemiologia , Adulto Jovem
9.
Int J Gynaecol Obstet ; 133(1): 94-7, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26868066

RESUMO

OBJECTIVE: To evaluate vitamin A status and its relationship with serum zinc concentrations among pregnant women who had previously undergone Roux-en-Y gastric bypass (RYGB), correlating these measures with anthropometric maternal characteristics and perinatal outcomes. METHODS: An analytical prospective longitudinal study was conducted at a clinic in Rio de Janeiro, Brazil, between March 3, 2008, and March 30, 2012, among women with singleton pregnancies who had previously undergone RYGB. Participants received daily oral supplementation with 5000 IU retinol and 15 mg zinc. Variables assessed included vitamin A status (serum retinol and ß-carotene; gestational night blindness), serum zinc concentration, maternal anthropometry, complications during pregnancy, and perinatal outcomes. RESULTS: Overall, 30 women participated. In all trimesters, more than 60% had inadequate serum levels of retinol or ß-carotene. Night blindness was reported by 17 (57%) women in each trimester. Only 6 (20%) women had zinc inadequacy in the first and third trimesters. No significant association was observed between serum retinol or zinc and maternal anthropometry and birth weight. Vitamin A deficiency was associated with urinary tract infection (first trimester, P=0.020) and dumping syndrome (third trimester, P=0.013). CONCLUSION: Despite RYGB and nutritional deficiencies (especially of vitamin A and zinc) increasing risks during pregnancy, there was no apparent fetal compromise when considering the analysis of birth weight and length of pregnancy at birth.


Assuntos
Derivação Gástrica , Complicações na Gravidez/epidemiologia , Vitamina A/sangue , Zinco/sangue , Adulto , Antropometria , Peso ao Nascer , Brasil , Feminino , Humanos , Recém-Nascido , Estudos Longitudinais , Cegueira Noturna/epidemiologia , Cegueira Noturna/etiologia , Gravidez , Resultado da Gravidez , Trimestres da Gravidez , Estudos Prospectivos , Vitamina A/administração & dosagem , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/epidemiologia , Deficiência de Vitamina A/etiologia , Zinco/administração & dosagem , Zinco/deficiência , beta Caroteno/sangue
10.
Public Health Nutr ; 19(5): 851-60, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26055085

RESUMO

OBJECTIVE: To describe the prevalence and determinants of gestational night blindness in pregnant women receiving care in a hospital in Rio de Janeiro, Brazil. DESIGN: Cross-sectional study of pregnant and postpartum women receiving care in a public hospital in Rio de Janeiro from 1999 to 2001 (group I; n 225) or from 2005 to 2008 (group II; n 381). Night blindness was identified through a standardized and validated interview (WHO, 1996). The determinants of gestational night blindness were identified through a hierarchical logistic regression model. SETTING: Public maternity hospital in Rio de Janeiro, RJ, Brazil. SUBJECTS: Adult pregnant and postpartum women (n 606), aged ≥20 years. RESULTS: The prevalence of gestational night blindness was 9·9 %. The final model revealed that not living in the South Zone of Rio de Janeiro (distal level: adjusted OR=1·846; 95 % CI 1·002, 3·401), belonging to group I (intermediate level: adjusted OR=2·183; 95 % CI 1·066, 4·471) and for the proximal level, having a history of abortion (adjusted OR=2·840; 95 % CI 1·134, 7·115) and having anaemia during the first and second trimesters of pregnancy (adjusted OR=3·776; 95 % CI 1·579, 9·029) were determinants of gestational night blindness. CONCLUSION: Gestational night blindness should be assessed for during the prenatal care of all pregnant women, especially those living in deprived areas of the city and/or who have a history of abortion or anaemia. Nutritional monitoring is recommended during pregnancy to control gestational night blindness.


Assuntos
Ácido Ascórbico/administração & dosagem , Ácido Fólico/administração & dosagem , Alimentos Fortificados , Ferro da Dieta/administração & dosagem , Cegueira Noturna/epidemiologia , Vitamina A/administração & dosagem , Aborto Induzido , Adulto , Anemia Ferropriva/complicações , Anemia Ferropriva/tratamento farmacológico , Brasil/epidemiologia , Estudos Transversais , Suplementos Nutricionais , Feminino , Humanos , Modelos Logísticos , Cegueira Noturna/etiologia , Cegueira Noturna/prevenção & controle , Período Pós-Parto , Gravidez , Cuidado Pré-Natal , Prevalência , Fatores Socioeconômicos , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/tratamento farmacológico , Adulto Jovem
11.
Mil Med ; 180(7): 774-9, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26126247

RESUMO

During the U.S. Civil War, nutritional night blindness was a common problem among soldiers forced to subsist of nutritionally inadequate diets, but medical officers typically attributed this complaint to malingering and did not suspect or appreciate a dietary basis. More than 8,000 cases of night blindness were recorded among Union troops, but many cases were not tabulated because of incomplete data for black soldiers and prisoners of war. From 1864 to 1865, during which comparable data were available for both whites and blacks, the average annual cumulative incidence of night blindness was 4.3 per 1,000 troops for whites, compared with 11.0 per 1,000 troops for blacks. Affected patients had dilated pupils that were poorly responsive to candle light. Approximately 30 cases of keratomalacia were also reported among severely malnourished and emaciated soldiers with chronic diarrhea, generally within 2 weeks before death. The reported clinical manifestations are characteristic of the full range of vitamin A deficiency eye disease from night blindness to corneal ulceration and perforation. Although medical officers typically accused affected soldiers of malingering, malingering cannot account for either the observed abnormalities of pupillary reflexes, or the corneal epithelial pathology and mortality recorded in severe cases.


Assuntos
Guerra Civil Norte-Americana , Militares/história , Cegueira Noturna/história , Deficiência de Vitamina A/história , História do Século XIX , Humanos , Incidência , Cegueira Noturna/epidemiologia , Cegueira Noturna/etiologia , Estados Unidos/epidemiologia , Vitamina A/sangue , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/epidemiologia
12.
Neurology ; 83(11): 1025-8, 2014 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-25200714

RESUMO

BACKGROUND: During the US Civil War, medical officers typically attributed night blindness among soldiers to malingering. A dietary basis was not generally suspected or appreciated. DESIGN/METHODS: Incident cases of night blindness, scurvy, and diarrheal diseases, as well as mean troop strength among Union troops, were abstracted by month and race from tabulations of the US Surgeon General for the period from July 1861 through June 1866. Monthly incidence rates and annual incidence rates are presented as time series by race. RESULTS: Night blindness incidence was seasonal. Seasonal patterns of night blindness incidence were similar for white and black soldiers, although the peak incidence rates were approximately 2-3 times higher in black soldiers. The seasonal effect for white Union soldiers increased progressively to 1864. The seasonal pattern for night blindness roughly parallels that for scurvy and for diarrheal diseases. The peak season for night blindness incidence was summer, and the next highest season was spring. The mode of monthly incidence rates for diarrheal diseases slightly anticipated that for night blindness and scurvy. In addition, there was greater relative variation in monthly incidence for night blindness and scurvy than for diarrheal diseases. CONCLUSIONS: Nutritional night blindness occurred in a seasonal pattern among soldiers forced to subsist on nutritionally inadequate diets. The seasonal pattern is consistent with seasonal variations in the availability of foodstuffs with high vitamin A or provitamin A content, superimposed on marginal vitamin A reserves, and possibly exacerbated by co-occurring seasonal patterns of diarrheal disease.


Assuntos
Guerra Civil Norte-Americana , Militares , Cegueira Noturna/história , Estações do Ano , Negro ou Afro-Americano/história , Diarreia/epidemiologia , Diarreia/etnologia , Diarreia/história , Dieta/efeitos adversos , História do Século XIX , Humanos , Incidência , Cegueira Noturna/epidemiologia , Cegueira Noturna/etnologia , Cegueira Noturna/etiologia , Escorbuto/epidemiologia , Escorbuto/etnologia , Escorbuto/história , Fatores de Tempo , População Branca/história
13.
Ethiop J Health Sci ; 24(3): 219-26, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25183928

RESUMO

BACKGROUND: More than 7.2 million pregnant women in developing countries suffer from vitamin A deficiency. The objective of this study was to assess dark adaptation threshold of pregnant women and related socio-demographic factors in Damot Sore District, Wolayita Zone, Southern Ethiopia. METHODS: A cross-sectional study design was employed to collect data from 104 pregnant women selected by a two stage cluster sampling. A Dietary Diversity Score was calculated by counting the number of food groups consumed by the women in 24 hour period prior to the study. Scotopic Sensitivity Tester-1 was used to test participant's pupillary response to graded amounts of light in a dark tent. RESULTS: Half of the pregnant women in this study had dietary diversity score less than three. The majority of participants (87.5%) had consumed either animal or plant source vitamin A rich foods less than three times a week. For a unit increase in individual dietary diversity score, there was a decrease in dark adaptation measurement by 0.29 log cd/m(2) (p=0.001). For a unit increase in gestational week of pregnancy, there was an increase in dark adaptation measurement by 0.19 log cd/m(2) (P=0.027). CONCLUSIONS: Results from this study indicated that the pregnant women had low consumption of vitamin A rich foods, and their dark adaptation threshold increases with gestational age indicating that their vitamin A status is getting worse. There is a need to design appropriate intervention and target this group of population.


Assuntos
Adaptação à Escuridão/fisiologia , Dieta/normas , Complicações na Gravidez/fisiopatologia , Deficiência de Vitamina A/fisiopatologia , Vitamina A/administração & dosagem , Adulto , Estudos Transversais , Etiópia/epidemiologia , Feminino , Humanos , Cegueira Noturna/epidemiologia , Estado Nutricional , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Prevalência , Limiar Sensorial/fisiologia , Fatores Socioeconômicos , Deficiência de Vitamina A/epidemiologia
14.
Nutr Hosp ; 29(5): 1132-40, 2014 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-24951995

RESUMO

INTRODUCTION: In developing countries, night blindness is a very common public health problem among pregnant women. OBJECTIVE: Evaluate the effect of the changes occurred on prenatal care concerning prenatal nutritional care on the occurrence of night blindness (XN) in adult pregnant women in public maternity hospital in Rio de Janeiro between 1999-2001 and between 2007-2008. METHODS: Two cross-sectional studies were conducted, been the first one conducted between 1999-2001 and the second one between 2007-2008. Were studied 402 puerperal women, 225 between 1999-2001 (GI) and 177 between 2007-2008 (GII). The gestational XN was investigated during the immediate puerperium (GI) and during the prenatal/puerperium (GII), diagnosed by the World Health Organization. The study collected sociodemographic, clinical, obstetric, anthropometric and prenatal care information. RESULTS: It verified significant reduce of prevalence of gestational XN (GI = 18.7% e GII = 0.6%, p < 0.001). The occurrence of gestational XN was associated to sanitary conditions, education level, more than six prenatal consultations, miscarriage at last pregnancy, higher average number of deliveries, average number of prenatal care consultations and prenatal nutritional (p < 0.05). There was no association between gestational XN and marital status, skin color, pre-gestational nutritional status, adequacy of gain of total gestational weight, gestational anaemia and average number of pregnancies (p > 0.05). CONCLUSION: The inclusion of nutritional care in routine prenatal care may have contributed to the reduction of gestational XN. Studies to assess the nutritional intervention in the prevention and treatment of gestational XN at regions at greatest risk are suggested.


Introducción: En los países en desarrollo, la ceguera nocturna (CN) es un problema muy común de la salud pública entre las mujeres embarazadas. Objetivo: Evaluar el efecto de los cambios ocurridos en la atención prenatal sobre el cuidado nutricional prenatal sobre la aparición de CN en mujeres adultas embarazadas en una maternidad pública en Rio de Janeiro entre 1999-2001 y entre 2007-2008. Métodos: Se realizaron dos estudios transversales, el primero entre 1999-2001 y el segundo entre 2007-2008. Se estudiaron 402 mujeres puérperas, 225 entre 1999-2001 (GI) y 177 entre 2007-2008 (GII). La CN gestacional fue investigada durante el puerperio inmediato (GI) y durante el prenatal/puerperio (GII), diagnosticada por la Organización Mundial de La Salud. El estudio incluió informaciones sociodemográficas, clínicas, obstétricas, antropométricas y del cuidado prenatal. Resultados: Se verificó reducción significativa de la prevalencia de CN gestacional (GI = 18,7% e GII = 0,6%, p < 0,001). La ocurrencia de CN gestacional se asoció con las condiciones sanitarias, el nivel de educación, más de seis consultas prenatales, abortos espontáneos en el último embarazo, mayor número promedio de partos, el número promedio de consultas de atención prenatal y de nutrición prenatal (p < 0,05). No hubo asociación entre CN gestacional y el estado civil, color de piel, estado nutricional pregestacional, adecuación de la ganancia de peso durante la gestación, incluyendo anemia gestacional y el número medio de embarazos (p > 0,05). Conclusión: La inclusión de la atención nutricional en el cuidado prenatal de rutina puede haber contribuido para la reducción de CN gestacional. Se sugiere más estudios para evaluar la intervención nutricional en la prevención y el tratamiento de CN gestacional en las regiones de mayor riesgo.


Assuntos
Cegueira Noturna/epidemiologia , Cegueira Noturna/prevenção & controle , Cuidado Pré-Natal/estatística & dados numéricos , Fenômenos Fisiológicos da Nutrição Pré-Natal , Adulto , Antropometria , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Período Pós-Parto , Gravidez , Prevalência , Adulto Jovem
15.
Nutr. hosp ; 29(5): 1132-1140, mayo 2014. tab
Artigo em Inglês | IBECS | ID: ibc-143854

RESUMO

Introduction: In developing countries, night blindness is a very common public health problem among pregnant women. Objective: Evaluate the effect of the changes occurred on prenatal care concerning prenatal nutritional care on the occurrence of night blindness (XN) in adult pregnant women in public maternity hospital in Rio de Janeiro between 1999-2001 and between 2007-2008. Methods: Two cross-sectional studies were conducted, been the first one conducted between 1999-2001 and the second one between 2007-2008. Were studied 402 puerperal women, 225 between 1999-2001 (GI) and 177 between 2007-2008 (GII). The gestational XN was investigated during the immediate puerperium (GI) and during the prenatal/puerperium (GII), diagnosed by the World Health Organization. The study collected sociodemographic, clinical, obstetric, anthropometric and prenatal care information. Results: It verified significant reduce of prevalence of gestational XN (GI = 18.7% e GII = 0.6%, p < 0.001). The occurrence of gestational XN was associated to sanitary conditions, education level, more than six prenatal consultations, miscarriage at last pregnancy, higher average number of deliveries, average number of prenatal care consultations and prenatal nutritional (p < 0.05). There was no association between gestational XN and marital status, skin color, pre-gestational nutritional status, adequacy of gain of total gestational weight, gestational anaemia and average number of pregnancies (p > 0.05). Conclusion: The inclusion of nutritional care in routine prenatal care may have contributed to the reduction of gestational XN. Studies to assess the nutritional intervention in the prevention and treatment of gestational XN at regions at greatest risk are suggested (AU)


Introducción: En los países en desarrollo, la ceguera nocturna (CN) es un problema muy común de la salud pública entre las mujeres embarazadas. Objetivo: Evaluar el efecto de los cambios ocurridos en la atención prenatal sobre el cuidado nutricional prenatal sobre la aparición de CN en mujeres adultas embarazadas en una maternidad pública en Rio de Janeiro entre 1999-2001 y entre 2007-2008. Métodos: Se realizaron dos estudios transversales, el primero entre 1999-2001 y el segundo entre 2007-2008. Se estudiaron 402 mujeres puérperas, 225 entre 1999-2001 (GI) y 177 entre 2007-2008 (GII). La CN gestacional fue investigada durante el puerperio inmediato (GI) y durante el prenatal/puerperio (GII), diagnosticada por la Organización Mundial de La Salud. El estudio incluyó informaciones sociodemográficas, clínicas, obstétricas, antropométricas y del cuidado prenatal. Resultados: Se verificó reducción significativa de la prevalencia de CN gestacional (GI = 18,7% e GII = 0,6%, p < 0,001). La ocurrencia de CN gestacional se asoció con las condiciones sanitarias, el nivel de educación, más de seis consultas prenatales, abortos espontáneos en el último embarazo, mayor número promedio de partos, el número promedio de consultas de atención prenatal y de nutrición prenatal (p < 0,05). No hubo asociación entre CN gestacional y el estado civil, color de piel, estado nutricional pregestacional, adecuación de la ganancia de peso durante la gestación, incluyendo anemia gestacional y el número medio de embarazos (p > 0,05). Conclusión: La inclusión de la atención nutricional en el cuidado prenatal de rutina puede haber contribuido para la reducción de CN gestacional. Se sugiere más estudios para evaluar la intervención nutricional en la prevención y el tratamiento de CN gestacional en las regiones de mayor riesgo (AU)


Assuntos
Feminino , Humanos , Gravidez , Cegueira Noturna/epidemiologia , Nutrição da Gestante , Terapia Nutricional/métodos , Deficiência de Vitamina A/epidemiologia , Complicações na Gravidez/prevenção & controle , Fatores de Risco , Estudos Transversais
16.
Am J Ophthalmol ; 157(1): 135-141.e1, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24182745

RESUMO

PURPOSE: To investigate the incidence and severity of night vision disturbances after implantable collamer lens surgery and to analyze the risk factors. DESIGN: Retrospective, noncomparative study. METHODS: Medical charts from 50 eyes of 25 patients who underwent implantable collamer lens implantation were retrospectively reviewed. The incidence and severity of night vision disturbances were evaluated using questionnaires administered 6 months after surgery. Univariate simple and multiple logistic regression analyses were used to detect risk factors associated with postoperative night vision disturbances. Potential risk factors included in the analysis were keratometric value, anterior chamber depth, postoperative residual refractive error, higher-order aberrations, preoperative and postoperative mesopic pupil size, the difference between preoperative and postoperative mesopic pupil size, the difference between mesopic pupil size and implantable collamer lens optic zone diameter, white-to-white diameter, sulcus-to-sulcus diameter, and postoperative implantable collamer lens vaulting. The power, size, optic zone diameter, and toricity of the implantable collamer lens were also included as variables. RESULTS: The incidence of night vision disturbances was 34.0% for halos and 26.0% for glare. Halos were found to be significantly related to the difference between mesopic pupil size and implantable collamer lens optic zone diameter (P = .013), white-to-white diameter of the cornea (P = .028), and implantable collamer lens optic zone diameter (P = .030). For glare, toricity of the implantable collamer lens was revealed as a significant risk factor (P = .047). CONCLUSIONS: Although not severe, the incidence of night vision disturbances after implantable collamer lens implantation was not negligible. Possible risk factors for night vision disturbances include implantable collamer lens optic zone diameter, the difference between mesopic pupil size and implantable collamer lens optic zone diameter, and white-to-white diameter of the cornea for causing halos, and the toricity of the implantable collamer lens for causing glare.


Assuntos
Implante de Lente Intraocular , Cegueira Noturna/epidemiologia , Lentes Intraoculares Fácicas , Complicações Pós-Operatórias , Adulto , Astigmatismo/cirurgia , Feminino , Ofuscação , Humanos , Incidência , Masculino , Microscopia Acústica , Pessoa de Meia-Idade , Miopia/cirurgia , Cegueira Noturna/diagnóstico , Cegueira Noturna/etiologia , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Inquéritos e Questionários , Resultado do Tratamento , Acuidade Visual/fisiologia , Adulto Jovem
17.
J Health Popul Nutr ; 31(4): 413-23, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24592582

RESUMO

Vitamin A deficiency (VAD) has been recognized as a public-health issue in developing countries. Economic constraints, sociocultural limitations, insufficient dietary intake, and poor absorption leading to depleted vitamin A stores in the body have been regarded as potential determinants of the prevalence of VAD in South Asian developing countries. VAD is exacerbated by lack of education, poor sanitation, absence of new legislation and enforcement of existing food laws, and week monitoring and surveillance system. Several recent estimates confirmed higher morbidly and mortality rate among children and pregnant and non-pregnant women of childbearing age. Xerophthalmia is the leading cause of preventable childhood blindness with its earliest manifestations as night blindness and Bitot's spots, followed by blinding keratomalacia, all of which are the ocular manifestations of VAD. Children need additional vitamin A because they do not consume enough in their normal diet. There are three general ways for improving vitamin A status: supplementation, fortification, and dietary diversification. These approaches have not solved the problem in South Asian countries to the desired extent because of poor governmental support and supervision of vitamin A supplementation twice a year. An extensive review of the extant literature was carried out, and the data under various sections were identified by using a computerized bibliographic search via PubMed, Web of Science, and Google Scholar. All abstracts and full-text articles were examined, and the most relevant articles were selected for screening and inclusion in this review. Conclusively, high prevalence of VAD in South Asian developing countries leads to increased morbidity and mortality among infants, children, and pregnant women. Therefore, stem efforts are needed to address this issue of public-health significance at local and international level in lower- and middle-income countries of South Asia.


Assuntos
Dieta/métodos , Deficiência de Vitamina A/dietoterapia , Deficiência de Vitamina A/epidemiologia , Vitamina A/uso terapêutico , Vitaminas/uso terapêutico , Adulto , Ásia Ocidental/epidemiologia , Causalidade , Criança , Comorbidade , Países em Desenvolvimento/estatística & dados numéricos , Suplementos Nutricionais , Feminino , Alimentos Fortificados , Humanos , Lactente , Cegueira Noturna/dietoterapia , Cegueira Noturna/epidemiologia , Gravidez , Prevalência , Xeroftalmia/dietoterapia , Xeroftalmia/epidemiologia
18.
Health Soc Work ; 37(3): 157-69, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23193731

RESUMO

Approximately 10 million pregnant women around the world develop night blindness annually. In India, one in 11 pregnant women suffers from night blindness. This study used a nationally representative sample of 35,248 women from India between the ages of 15 and 49 who had given birth in the past five years to understand the effect of women's empowerment on developing blindness during pregnancy. Findings from logistic regression showed that several empowerment-related factors, including women's increased age at the birth of their first child, high school education, and participation in their own health care decisions, significantly reduced the odds of developing blindness, whereas their experience of spousal control, humiliation, and physical abuse significantly increased the odds of developing blindness during pregnancy. Interestingly, antenatal care visits that included nutritional advice and iron supplements during pregnancy had no effect on blindness after controlling for other factors. To reduce blindness during pregnancy in India, more attention should be given to delaying age at marriage and first birth; improving women and girl's education and autonomy; and implementing strategies to reduce spousal control, humiliation, and abuse.


Assuntos
Cegueira/etiologia , Idade Materna , Cegueira Noturna/etiologia , Complicações na Gravidez/etiologia , Direitos da Mulher , Adolescente , Adulto , Cegueira/epidemiologia , Tomada de Decisões , Feminino , Inquéritos Epidemiológicos , Humanos , Índia/epidemiologia , Modelos Logísticos , Pessoa de Meia-Idade , Cegueira Noturna/epidemiologia , Poder Psicológico , Gravidez , Complicações na Gravidez/epidemiologia , Cuidado Pré-Natal , Fenômenos Fisiológicos da Nutrição Pré-Natal , Fatores Socioeconômicos , Maus-Tratos Conjugais , Adulto Jovem
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