Magister Scientiae (Medical Bioscience) - MSc(MBS) / The present study describes molecular aspects of inherited congenital cataract in captive-bred Vervet monkeys. Congenital cataracts are lens opacities that are present at birth or soon after birth and include hereditary cataracts or cataracts caused by infectious agents. The MRC Primate Unit is housing a colony of captive-bred Vervet monkeys in which 7.5% is suffering from congenital cataract. However, the parents of the affected individuals were asymptomatic. Six families within the colony have been identified to be affected by two types of morphologies (Y-sutural and total cataract). Based on the evidence provided above, it was speculated that the colony was affected with autosomal recessive cataract. The main aim of this study was to facilitate a strategy for managing breeding programs by minimizing cataract occurrences in captive-bred Vervet monkeys. Integrated combination of clinical, molecular and bioinformatic strategies were used to identify and assess reciprocal candidate susceptibility genes for cataracts. The genes that are known to be responsible for most human congenital cataract cases were prioritized. The genes include Heat shock transcription factor 4 (HSF4), Crystalline Alpha A (CRYAA), glucosaminyl (N-acetyl) transferase 2 (GCNT2) and Lens intrinsic membrane protein 2 (LIM2). Twenty two subjects were selected based on their morphology (5 carriers, 5 controls and 12 cataracts). 2ml of blood was collected for Deoxyribonucleic acid (DNA) extraction. Coding exons and flanking regions were screened by polymerase chain reaction (PCR) amplification and sequenced. The CLC DNA workbench was used for results analysis. The screening of four genes revealed 20 sequence variants which were not present in the control individuals. Sequencing of HSF4 revealed three mutations: R116R, L245>L and P421>L in exon 5, 10 and 14, respectively. The coding exons for CRYAA showed two sequence variants: S134W and K166N in exon 3. Twelve mutations were identified in exon one of all three GCNT2 transcripts (A, B and C). These mutations include: G212G, H256>H, M258>V, N275>N, V16>I, Y122>F, S15>S, S24>N, S38>S, I118>I, D194>D and Y373>Y which was found in exon three of all transcripts. There were no mutations in LIM2, however, three single nucleotide polymorphisms (SNPs) were identified in exon 2 (P66>P) and 3 (I118>T and A127>T). The above mutations were conserved when aligned with other species. The sequence variations vary among the families and those individuals with the same or different cataract phenotype. Based on these findings, it can be concluded that the four candidate genes harbour mutations that are responsible for both phenotypes. The effect of these mutations in Vervet monkeys is not yet understood, however, their impact will be further investigated. For future studies, it will be of absolute importance to screen the entire family to verify that indeed cataract formation in this colony is inherited in an autosomal recessive manner.

>Magister Scientiae - MSc / Molecular genetics: strategies to indentify congenital cataract genes in captive-bred Vervet monkeys Zandisiwe Emilia Magwebu MSc thesis, Department of Medical Biosciences, University of the Western Cape The present study describes molecular aspects of inherited congenital cataract in captive-bred Vervet monkeys. Congenital cataracts are lens opacities that are present at birth or soon after birth and include hereditary cataracts or cataracts caused by infectious agents. The MRC Primate Unit is housing a colony of captive-bred Vervet monkeys in which 7.5% is suffering from congenital cataract. However, the parents of the affected individuals were asymptomatic. Six families within the colony have been identified to be affected by two types of morphologies (Ysutural and total cataract). Based on the evidence provided above, it was speculated that the colony was affected with autosomal recessive cataract. The main aim of this study was to facilitate a strategy for managing breeding programs by minimizing cataract occurrences in captive-bred Vervet monkeys. Integrated combination of clinical, molecular and bioinformatic strategies were used to identify and assess reciprocal candidate susceptibility genes for cataracts. The genes that are known to be responsible for most human congenital cataract cases were prioritized. The genes include Heat shock transcription factor 4 (HSF4), Crystalline Alpha A (CRYAA), glucosaminyl (N-acetyl) transferase 2 (GCNT2) and Lens intrinsic membrane protein 2 (LIM2). Twenty two subjects were selected based on their morphology (5 carriers, 5 controls and 12 cataracts). 2ml of blood was collected for Deoxyribonucleic acid (DNA) extraction. Coding exons and flanking regions were screened by polymerase chain reaction (PCR) amplification and sequenced. The CLC DNA workbench was used for results analysis. The screening of four genes revealed 20 sequence variants which were not present in the control individuals. Sequencing of HSF4 revealed three mutations: R116R, L245>L and P421>L in exon 5, 10 and 14, respectively. The coding exons for CRYAA showed two sequence variants: S134W and K166N in exon 3. Twelve mutations were identified in exon one of all three GCNT2 transcripts (A, B and C). These mutations include: G212G, H256>H, M258>V, N275>N, V16>I, Y122>F, S15>S, S24>N, S38>S, I118>I, D194>D and Y373>Y which was found in exon three of all transcripts. There were no mutations in LIM2, however, three single nucleotide polymorphisms (SNPs) were identified in exon 2 (P66>P) and 3 (I118>T and A127>T). The above mutations were conserved when aligned with other species. The sequence variations vary among the families and those individuals with the same or different cataract phenotype. Based on these findings, it can be concluded that the four candidate genes harbour mutations that are responsible for both phenotypes. The effect of these mutations in Vervet monkeys is not yet understood, however, their impact will be further investigated. For future studies, it will be of absolute importance to screen the entire family to verify that indeed cataract formation in this colony is inherited in an autosomal recessive manner.

A Catarata Congênita (CC) é definida como a opacidade do cristalino, que está presente no nascimento ou surge logo após. Pode ser classificada de acordo com sua morfologia, posição, densidade e seu prognóstico varia conforme a morfologia e precocidade do diagnóstico e tratamento. Devido à privação visual na Catarata Congênita, ocorre o impedimento da evolução orgânica e funcional de maneira adequada do sistema visual, levando a alterações que resultam na baixa visão, além afetar componentes da retina e áreas do cérebro relacionados com o processamento de cores. O objetivo deste trabalho foi verificar o impacto da no desenvolvimento da visão de cores e acuidade visual entre crianças tratadas da catarata congênita. Foram avaliados 2 grupos: 16 crianças do grupo controle e 16 crianças do grupo CC. Foi utilizado os Cartões de Acuidade de Teller para avaliar a acuidade visual e uma versão adaptada para avaliação de crianças do Cambridge Colour Test (CCT) para a avaliação dos três eixos de visão de cores (protan, deutan e tritan). Houve redução de Acuidade visual de todas as crianças do grupo CC além de redução nos eixos deutan e protan quando comparados com o grupo controle, principalmente o eixo protan. Foi encontrada correlação entre o eixo protan e acuidade visual, inferindo assim que há uma alteração na retina central e na via parvocelular em crianças com CC / Congenital Cataracts (CC) is defined as lens opacity, present at birth or appearing soon after. This condition can be classified according to morphology, position and density, and the prognosis varies according to morphology and early diagnosis and treatment. Due to visual deprivation in Congenital Cataracts, the organic and functional evolution of the visual system is impaired, leading to changes that result in poor vision, while also affecting retina components and brain areas related to color processing. The aim of this study was to verify the impact on the development of color vision and visual acuity among children who underwent congenital cataracts treatment. Two groups were evaluated: 16 children in the control group and 16 in the CC group. Teller\'s Acuity Cards were used to evaluate visual acuity, and an adapted version of the Cambridge Color Test (CCT) was applied to evaluate the three color vision axes (protan, deutan and tritan). Decreased visual acuity was observed for all children in the CC group, as well as in the deutan and protan axes when compared to the control group, primarily the protan axis. A correlation was detected between the protan axis and visual acuity, thus inferring that changes in the central retina and the parvocellular pathway in children with CC do indeed occur

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No. of bitstreams: 1 fachinelli_rl_me_bot.pdf: 1066915 bytes, checksum: 93987ac1254ae543ed84ff519a438005 (MD5) Previous issue date: 2018-02-22 / Objetivo: Comparar a ceratometria média aferida (KA) sob narcose em crianças submetidas à facectomia, por catarata congênita ou do desenvolvimento, com a ceratometria média obtida por cálculo teórico (KC), utilizando o poder dióptrico da lente intraocular (LIO) implantada e dados refracionais e biométricos pós-operatórios, a fim de evidenciar possíveis erros de aferição da KA devido a narcose. Métodos: Estudo retrospectivo realizado a partir da análise de dados coletados de prontuários de pacientes com catarata bilateral, congênita ou do desenvolvimento, que receberam tratamento cirúrgico no HC-FMB. Foram analisados 73 olhos de crianças que possuíam pelo menos um exame pós-operatório completo, cada momento em que determinado olho foi examinado foi considerado um elemento do conjunto amostral, totalizando 165 momentos. KC foi obtida a partir de fórmula teórica para cálculo de LIO, utilizando os dados biométricos pós-operatórios (AL e ACD), refratometria automatizada pós-operatória e poder dióptrico da LIO implantada. Foi calculada a diferença entre KA e KC (Desvio = KA – KC). Para análise estatística dos desvios encontrados e comparação entre KA e KC, foi realizado o teste de associação de Goodman e o teste não paramétrico de Kruskal-Wallis. Resultados: A média de idade no momento da cirurgia do primeiro olho foi 954,62 dias, com desvio padrão de ±794,14 dias, mediana de 953 dias, sendo a idade mínima de 44 dias e a máxima de 2659 dias. Vinte e três eram do sexo masculino (62,16%) e 14 eram do sexo feminino (37,84%). KA variou de 40,62D a 51,50D, com mediana de 45,25D, média de 45,32D e desvio padrão de ±2,37D. KC variou de 39,40D a 52,26D, com mediana de 44,49D, média de 44,54D e desvio padrão de ±2,41D. Os desvios (Desvio = KA – KC) variaram de -2,28D a 3,81D, com mediana de 0,83D, média de 0,79D e desvio padrão de ±1,18D. A relação entre KC e KA pode ser representada pela equação KA = 1,0172 Kc. Conclusão: A comparação entre KC e KA em crianças sob narcose evidenciou que há superestimação do valor aferido em relação ao calculado. A análise dos desvios encontrados mostrou tendência para maior superestimação quanto maior a KA com diferença significativa (p<0,05) nas aferições acima de 44,0D. / Purpose: To compare the mean keratometry measured (KA) in children under anesthesia to receive surgical treatment for congenital or developmental cataract with a mean keratometry obtaeined by a theoretical formula (KC), using the implanted intraocular lens (IOL) power value and postoperative refractional and biometric data, in order to check possible observational erros of KA due to general anesthesia. Methods: A retrospective study analysing records of patients with congenital or developmental bilateral cataract who underwent surgical treatment at HC-FMB. Seventy-three children’s eyes that had at least one full postoperative exam were analyzed, each time one eye was assessed was considered one element of the sample group, and the total amount was 165 elements. KC was determined by a theoretical formula for calculating IOL power using postoperative biometric data (AL e ACD), postoperative automatic refractometery and refractive power of the implanted IOL. The KA observational error value was obtained by subtracting KC from KA (Error = KA - KC). Statistical analysis of the observational erros and the comparison between KA and KC were made by Goodman’s test and Kruskal-Wallis’ non-parametric test. Results: the mean age at the moment of the first surgery was of 954,62 days, the standard deviation was ±794,14 days, the median was 953 days, the minimum age was 44 days and the maximum age was 2659 days. Twenty-three (62,16%) patients were male and 14 (37,84%) female. KA ranged from 40,62D to 51,50D, the median was 45,25D, the mean was 45,32D and the standard deviation was ±2,37D. KC ranged from 39,40D to 52,26D, the median was 44,49D, the mean was 44,54D and the standard deviation was ±2,41D. Observational errors ranged from -2,28D to 3,81D, the median was 0,83D, the mean was 0,79D and the standard deviation was ±1,18D. The rate between KC and KA can be represented by the equation KA = 1.0172 KC. Conclusion: The comparison between KC and KA in children under general anesthesia showed that there is an overestimation of the value measured when compared to the calculated one. The analysis of the observational errors showed there is a tendency to greater overestimation the higher the KA, with significant difference (p <0.05) in the measurements over 44.0D.

Orientador: Antonio Carlos Lottelli Rodrigues / Resumo: Objetivo: Comparar a ceratometria média aferida (KA) sob narcose em crianças submetidas à facectomia, por catarata congênita ou do desenvolvimento, com a ceratometria média obtida por cálculo teórico (KC), utilizando o poder dióptrico da lente intraocular (LIO) implantada e dados refracionais e biométricos pós-operatórios, a fim de evidenciar possíveis erros de aferição da KA devido a narcose. Métodos: Estudo retrospectivo realizado a partir da análise de dados coletados de prontuários de pacientes com catarata bilateral, congênita ou do desenvolvimento, que receberam tratamento cirúrgico no HC-FMB. Foram analisados 73 olhos de crianças que possuíam pelo menos um exame pós-operatório completo, cada momento em que determinado olho foi examinado foi considerado um elemento do conjunto amostral, totalizando 165 momentos. KC foi obtida a partir de fórmula teórica para cálculo de LIO, utilizando os dados biométricos pós-operatórios (AL e ACD), refratometria automatizada pós-operatória e poder dióptrico da LIO implantada. Foi calculada a diferença entre KA e KC (Desvio = KA – KC). Para análise estatística dos desvios encontrados e comparação entre KA e KC, foi realizado o teste de associação de Goodman e o teste não paramétrico de Kruskal-Wallis. Resultados: A média de idade no momento da cirurgia do primeiro olho foi 954,62 dias, com desvio padrão de ±794,14 dias, mediana de 953 dias, sendo a idade mínima de 44 dias e a máxima de 2659 dias. Vinte e três eram do sexo masculino (62,... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Purpose: To compare the mean keratometry measured (KA) in children under anesthesia to receive surgical treatment for congenital or developmental cataract with a mean keratometry obtaeined by a theoretical formula (KC), using the implanted intraocular lens (IOL) power value and postoperative refractional and biometric data, in order to check possible observational erros of KA due to general anesthesia. Methods: A retrospective study analysing records of patients with congenital or developmental bilateral cataract who underwent surgical treatment at HC-FMB. Seventy-three children’s eyes that had at least one full postoperative exam were analyzed, each time one eye was assessed was considered one element of the sample group, and the total amount was 165 elements. KC was determined by a theoretical formula for calculating IOL power using postoperative biometric data (AL e ACD), postoperative automatic refractometery and refractive power of the implanted IOL. The KA observational error value was obtained by subtracting KC from KA (Error = KA - KC). Statistical analysis of the observational erros and the comparison between KA and KC were made by Goodman’s test and Kruskal-Wallis’ non-parametric test. Results: the mean age at the moment of the first surgery was of 954,62 days, the standard deviation was ±794,14 days, the median was 953 days, the minimum age was 44 days and the maximum age was 2659 days. Twenty-three (62,16%) patients were male and 14 (37,84%) female. KA ranged from... (Complete abstract click electronic access below) / Mestre

Current state: Congenital cataract is an ophthalmic disorder where the clouding of the lens causes defect in its transparency and light dispersion. The child experiences a visual impairment that can be examinated depending on the age and mental state of the child. The treatment is removal of the clouded lens, subsequent correction of dioptric defects and subsequent training and monitoring of amblyopia. Purpose: of this study was to describe the roles of paediatric nurse in nursing care of children with congenital cataract and the specifics in nursing care in this condition, based on reviewed material. The following research problems were explored: What are the roles of paediatric nurse in nursing care of children with congenital cataract? What are the specifics in nursing care of children with congenital cataract? Methods: In order to reach the goal set by this study we used qualitative data and study analysis. This study implements data sources from National Medical Library in Prague, the Academic Library of University of South Bohemia in České Budějovice, the library of 2. LF UK and FN Motol in Prague and the library of National center of nursing and non-medical health providers in Brno. Moreover the study reviewed the material from bibliographic databases (Cochrane Library, Ebscohost, Medscape, ProQuest, PubMed, ScienceDirect, Scopus) and online databases of medical associations of ophthalmology (The American Academy of Ophthalmology, The Royal College of Ophthalmologists). Results: The goal of this study is to provide a comprehensive view on nursing care of children with congenital cataract. Conclusion: Even though the role of paediatric nurse in nursing care of children with congenital cataract is rather neglected in current literature, it is crucial in all forms of healthcare. In conclusion we define the role of paediatric nurse in nursing care of children with congenital cataract and description of the specifics of this care.