Background: The occurrence of cancer during pregnancy merges two complex, poorly understood metab... more Background: The occurrence of cancer during pregnancy merges two complex, poorly understood metabolic and hormonal conditions. This association can exacerbate the conditions of both the mother and the foetus. The branched-chain amino acid leucine enhances cellular activity, particularly by increasing protein synthesis. This study aimed to analyse the modulatory effect of a leucine-rich diet on direct and indirect tumour-induced placental damage. This was accomplished by evaluating the expression of genes involved in protein synthesis and degradation and assessing anti-oxidant enzyme activity in placental tissues collected from pregnant, tumour-bearing rats. Results: Pregnant rats were either implanted with Walker 256 tumour cells or injected with ascitic fluid (to study the indirect effects of tumour growth) and then fed a leucine-rich diet. Animals in a control group underwent the same procedures but were fed a normal diet. On the 20 th day of pregnancy, tumour growth was observed. Dams fed a normoprotein diet showed the greatest tumour growth. Injection with ascitic fluid mimicked the effects of tumour growth. Decreased placental protein synthesis and increased protein degradation were observed in both the tumour-bearing and the ascitic fluid-injected groups that were fed a normoprotein diet. These effects resulted in low placental DNA and protein content and high lipid peroxidation (measured by malondialdehyde content). Decreased placental protein synthesis-related gene expression was observed in the tumour group concomitant with increased expression of genes encoding protein degradation-associated proteins and proteolytic subunits. Conclusions: Consumption of a leucine-rich diet counteracted the effects produced by tumour growth and injection with ascitic fluid. The diet enhanced cell signalling, ameliorated deficiencies in DNA and protein content, and balanced protein synthesis and degradation processes in the placenta. The improvements in cell signalling included changes in the mTOR/eIF pathway. In conclusion, consumption of a leucine-rich diet improved placental metabolism and cell signalling in tumour-bearing rats, and these changes reduced the deleterious effects caused by tumour growth.
XXV Congresso de Iniciação Científica da Unicamp, Oct 21, 2017
Psychosocial stress, poor quality of sleep and lack of resilience are some of the biggest challen... more Psychosocial stress, poor quality of sleep and lack of resilience are some of the biggest challenges society have to face nowadays and it is no different for undergraduated students. Those factors can affect their academic performance, health and also their life outside the university. We aimed to correlate the effects of acute psychosocial stress, and its implications on sleep quality, resilience and somnolence in undergraduate pharmacy students.
International Journal of Cardiovascular Sciences, 2018
Background: The importance of scientific validation of supporting techniques to various treatment... more Background: The importance of scientific validation of supporting techniques to various treatments is unquestionable. In this context, the influence of manual lymphatic drainage (MLD) on natriuresis and lipolysis and its interaction with oral contraceptives still need to be investigated. Objectives: To evaluate the acute effect of MLD on natriuresis and lipolysis in young women using or not oral contraceptives. Methods: Twenty-nine non-users of oral contraceptives and 29 oral contraceptive users, self-reported healthy, sedentary, normal weight women were enrolled. Analyses were conducted on two different days-control (C), without therapeutic intervention and MLD day. Four urine samples were collected at 60-minute intervals. MLD was performed in lower limbs and abdomen for 45 min following the Leduc method. Urinary flow rate and urinary sodium, glycerol and atrial natriuretic peptide excretion were analyzed. Data normality was tested by the Shapiro-Wilk test. Data without normal distribution were expressed as median and interquartile range (25%-75%), while normally distributed data were expressed as mean ± standard error. Mann-Whitney test was used for unpaired data and Wilcoxon test for paired data. Data with normal distribution were evaluated by the unpaired t-Student test. Statistical significance was set at 5%. Results: One MLD session had an acute effect on both groups, increasing natriuresis in non-users of oral contraceptives and glycerol and atrial natriuretic peptide excretion in oral contraceptive users. Conclusion: Oral contraceptives influence the effect of MLD on natriuresis.
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
Adiponectin is an anti-inflammatory adipokine produced by adipose tissue and its concentration is... more Adiponectin is an anti-inflammatory adipokine produced by adipose tissue and its concentration is depressed in obesity and systemic arterial hypertension. Studies have established a relationship between the adiponectin plasma concentration and complications such as obesity and renal diseases. Proteinuria indicates renal dysfunction or infection and has a negative correlation with adiponectin plasma concentrations. The Wistar-Kyoto (WKY) and spontaneously hypertensive rats (SHR) exhibited higher urinary protein concentrations when compared to Wistar rats (WIS). Therefore, this study aimed to evaluated the serum concentrations of adiponectin and its relation to proteinuria in these rats. The results indicate that WKY present a reduction in the adiponectin serum concentration when compared to WIS and SHR. The low production of adiponectin is related to proteinuria and to the heavy weight of these animals. SHR exhibit similar serum adiponectin levels to WIS, suggesting the hypertension ...
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
Angiotensin II (AII) produced by Renin-Angiotensin-Aldosterone System (RAAS) through the classica... more Angiotensin II (AII) produced by Renin-Angiotensin-Aldosterone System (RAAS) through the classical pathway have been associated with the regulation of adipocyte glycolytic and lipolytic metabolism. This pathway can be potentiated by the increase of catecholamines. The Wistar-Kyoto (WKY) and Spontaneously Hypertensive Rats (SHR) strains exhibet high catecholamines pattern and have different adipocyte profiles. This work aims to evaluate the influence of AII in the production of glycerol and lactate from these different strains.
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
A disciplina de Fisiologia Animal Comparada, oferecida como eletiva aos estudantes de Ciências Bi... more A disciplina de Fisiologia Animal Comparada, oferecida como eletiva aos estudantes de Ciências Biológicas da Unicamp, possui 4 créditos e relaciona diversos sistemas integrados da fisiologia de diferentes grupos de animais vertebrados e invertebrados. Como proposta de oferecimento da disciplina no segundo semestre de 2016, os alunos tiveram como desafio elaborar seminários do conteúdo programático e criar estudos de casos de acordo com os sistemas que estavam sendo abordados em sala. Estas atividades resultaram em um material complementar personalizado, contendo também questões e glossários ao fim de cada capítulo. Os estudos de casos eram escolhidos e elaborados pelos grupos de alunos dentro do tópico por eles retratado, os quais posteriormente eram debatidos. Nosso objetivo é transformar esse material em um livro, o qual poderá ser consultado por outros alunos tanto da Unicamp, quanto de outras faculdades e escolas, já que visamos também disponibilizar uma versão digital. Para que...
Anais do Congresso de Iniciação Científica da Unicamp, 2015
Cortisol is considered as the stress hormone. BDNF is involved in plasticity, including memory, l... more Cortisol is considered as the stress hormone. BDNF is involved in plasticity, including memory, learning and sleep. The hair cortisol assess chronic stress. Our goals are the standardization of cortisol quantification techniques in hair (chronic), BDNF in saliva and the polymorphism identification in this population.
XXV Congresso de Iniciação Científica da Unicamp, Oct 21, 2017
Uroanalysis reveals information about metabolic, hepatic, and renal function as well as indicatio... more Uroanalysis reveals information about metabolic, hepatic, and renal function as well as indications of the dysfunction etiology. It is a simple, practical and quick method to perform analysis of the biochemical urine constituents by markers in reagent strips. In this study, we evaluated the urine of Wistar, Wistar Kyoto (WKY) and spontaneously hypertensive rats (SHR). Uroanalysis of WKY and SHR rats indicated ketosis and increased protein presence than Wistar. The WKY and SHR urine was more diluted than Wistar. Only the WKY presented haemolysis. The results indicate absence of hepatic dysfunction and infections in the urine of the different strains of rats. Ketonuria corroborates with the fasting rat's state, hematuria is an indicative of the urinary system dysfunction and proteinuria specifically refers to renal dysfunction, these are related to high WKY weight and SHR hypertension. Dilution of urine may be related to hydroelectrolytic imbalance due to changes in the HPA axis presented by WKY and SHR.
T he application to join Brazilian universities is hard and an agent that increases stress reacti... more T he application to join Brazilian universities is hard and an agent that increases stress reaction in adolescents. The main problem is the low vacancy number at public universities, i.e. higher competition. In one state university, which offers 3.320 vacancies, received an increased number of inscriptions: 67.516 in 2014; 77.146 in 2015 and 77.760 in 2016, enhance of almost 16% in three years (1). The federal system is not different, in 2013 received more than 2.712.937 inscriptions to 171,401 vacancies of different universities (2). However, the competition test is only an additional stress agent for students in this age. Of all life-stages adolescence is arguably the one most marked by rapid and potentially tumultuous transition, including biological, social, and psychological changes as well as shifting self-concepts (3).
Abstract The exams periods are commonly reported to be stressful experiences. The relationship be... more Abstract The exams periods are commonly reported to be stressful experiences. The relationship between perceived stress and resilience is well established, however, the relationship with cortisol remains unclear. Considering the stressful environment provided by the university and the lack of studies in the Brazilian context, this study aimed to evaluate and associate perceived stress, resilience and salivary cortisol in pharmacy students during the exams period. Seventy-nine pharmacy undergraduates answered questionnaires related to perceived stress and resilience and collected five saliva samples in an exam and a rest day for cortisol measures at the final exams at the end of the school year. They reported higher scores of perceived stress and intermediate resilience. Women are less resilient and their total cortisol output (AUC) on exams day is significantly higher compared to the rest day, but this difference tends to disappear over the academic year or at the end years. Furthermore, they exhibited cortisol rhythmicity and preserved CAR, with no changes in a short period by the exams, indicating normal, healthy and adaptive HPA-axis reactions to stressors. This study highlighted that students can adapt to stressful situations due to a modulation in the production of cortisol over the time.
Increased adipose tissue mass exhibited greater capacity of glucose transformation in lactate, hi... more Increased adipose tissue mass exhibited greater capacity of glucose transformation in lactate, highlighting lactatogenesis as a crucial factor in body size. Classically, lactate produced by isolated adipocytes are expressed per million of cells and were never correlated with their size. Spontaneously hypertensive rats (SHR) have a lower body weight and smaller adipocytes when compared to Wistar-Kyoto. We evaluated basal lactate by epididymal 15weeks-old isolated adipocytes of SHR, Wistar-Kyoto and Wistar. Basal lactate was similar when expressed by one million cells. However, SHR adipocytes were smaller, so we adjusted the results by cell volume and SHR showed higher basal lactate production which was directly endorsed by hyperlactatemia in the presented conditions. Thereby, we suggest a new perspective on lactatogenesis analysis by adipocytes, which could be linked to the receptors density and associate enzymes. Moreover, we showed that the thin and hypertensive rats can be hyperlactemic in fasting conditions.
RESUMO O uso de animais com objetivos acadêmicos é uma prática comum que vem sendo criticada por ... more RESUMO O uso de animais com objetivos acadêmicos é uma prática comum que vem sendo criticada por diversas instituições e mesmo pela população, há mais de 10 anos. Atualmente, no Brasil, os graduandos podem se recusar a participar de aulas que utilizam de animais em salas de aula. Diversos docentes já utilizam material alternativo em suas aulas de neurociências. São utilizados vídeos ou softwares no lugar do uso de animais. Estas práticas têm tido grande aceitação dos alunos, que veem grande potencial no método, pois diferente do que ocorre com o uso do animal, no vídeo ou com a utilização de um software pode-se rever o experimento com detalhes, mesmo após a realização das aulas. Desse modo, ocorre melhor assimilação do conhecimento transmitido, favorecendo não só o aluno, mas também o docente e os demais envolvidos, pois se torna uma atividade mais dinâmica e menos traumática. Unitermos. Educação, Ensino, Alternativas Citação. Canova F, Silva PC, Grassi-Kassisse DM. Alternativas para a diminuição do uso de animais na educação.
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofac... more Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known si...
Background: The occurrence of cancer during pregnancy merges two complex, poorly understood metab... more Background: The occurrence of cancer during pregnancy merges two complex, poorly understood metabolic and hormonal conditions. This association can exacerbate the conditions of both the mother and the foetus. The branched-chain amino acid leucine enhances cellular activity, particularly by increasing protein synthesis. This study aimed to analyse the modulatory effect of a leucine-rich diet on direct and indirect tumour-induced placental damage. This was accomplished by evaluating the expression of genes involved in protein synthesis and degradation and assessing anti-oxidant enzyme activity in placental tissues collected from pregnant, tumour-bearing rats. Results: Pregnant rats were either implanted with Walker 256 tumour cells or injected with ascitic fluid (to study the indirect effects of tumour growth) and then fed a leucine-rich diet. Animals in a control group underwent the same procedures but were fed a normal diet. On the 20 th day of pregnancy, tumour growth was observed. Dams fed a normoprotein diet showed the greatest tumour growth. Injection with ascitic fluid mimicked the effects of tumour growth. Decreased placental protein synthesis and increased protein degradation were observed in both the tumour-bearing and the ascitic fluid-injected groups that were fed a normoprotein diet. These effects resulted in low placental DNA and protein content and high lipid peroxidation (measured by malondialdehyde content). Decreased placental protein synthesis-related gene expression was observed in the tumour group concomitant with increased expression of genes encoding protein degradation-associated proteins and proteolytic subunits. Conclusions: Consumption of a leucine-rich diet counteracted the effects produced by tumour growth and injection with ascitic fluid. The diet enhanced cell signalling, ameliorated deficiencies in DNA and protein content, and balanced protein synthesis and degradation processes in the placenta. The improvements in cell signalling included changes in the mTOR/eIF pathway. In conclusion, consumption of a leucine-rich diet improved placental metabolism and cell signalling in tumour-bearing rats, and these changes reduced the deleterious effects caused by tumour growth.
XXV Congresso de Iniciação Científica da Unicamp, Oct 21, 2017
Psychosocial stress, poor quality of sleep and lack of resilience are some of the biggest challen... more Psychosocial stress, poor quality of sleep and lack of resilience are some of the biggest challenges society have to face nowadays and it is no different for undergraduated students. Those factors can affect their academic performance, health and also their life outside the university. We aimed to correlate the effects of acute psychosocial stress, and its implications on sleep quality, resilience and somnolence in undergraduate pharmacy students.
International Journal of Cardiovascular Sciences, 2018
Background: The importance of scientific validation of supporting techniques to various treatment... more Background: The importance of scientific validation of supporting techniques to various treatments is unquestionable. In this context, the influence of manual lymphatic drainage (MLD) on natriuresis and lipolysis and its interaction with oral contraceptives still need to be investigated. Objectives: To evaluate the acute effect of MLD on natriuresis and lipolysis in young women using or not oral contraceptives. Methods: Twenty-nine non-users of oral contraceptives and 29 oral contraceptive users, self-reported healthy, sedentary, normal weight women were enrolled. Analyses were conducted on two different days-control (C), without therapeutic intervention and MLD day. Four urine samples were collected at 60-minute intervals. MLD was performed in lower limbs and abdomen for 45 min following the Leduc method. Urinary flow rate and urinary sodium, glycerol and atrial natriuretic peptide excretion were analyzed. Data normality was tested by the Shapiro-Wilk test. Data without normal distribution were expressed as median and interquartile range (25%-75%), while normally distributed data were expressed as mean ± standard error. Mann-Whitney test was used for unpaired data and Wilcoxon test for paired data. Data with normal distribution were evaluated by the unpaired t-Student test. Statistical significance was set at 5%. Results: One MLD session had an acute effect on both groups, increasing natriuresis in non-users of oral contraceptives and glycerol and atrial natriuretic peptide excretion in oral contraceptive users. Conclusion: Oral contraceptives influence the effect of MLD on natriuresis.
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
Adiponectin is an anti-inflammatory adipokine produced by adipose tissue and its concentration is... more Adiponectin is an anti-inflammatory adipokine produced by adipose tissue and its concentration is depressed in obesity and systemic arterial hypertension. Studies have established a relationship between the adiponectin plasma concentration and complications such as obesity and renal diseases. Proteinuria indicates renal dysfunction or infection and has a negative correlation with adiponectin plasma concentrations. The Wistar-Kyoto (WKY) and spontaneously hypertensive rats (SHR) exhibited higher urinary protein concentrations when compared to Wistar rats (WIS). Therefore, this study aimed to evaluated the serum concentrations of adiponectin and its relation to proteinuria in these rats. The results indicate that WKY present a reduction in the adiponectin serum concentration when compared to WIS and SHR. The low production of adiponectin is related to proteinuria and to the heavy weight of these animals. SHR exhibit similar serum adiponectin levels to WIS, suggesting the hypertension ...
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
Angiotensin II (AII) produced by Renin-Angiotensin-Aldosterone System (RAAS) through the classica... more Angiotensin II (AII) produced by Renin-Angiotensin-Aldosterone System (RAAS) through the classical pathway have been associated with the regulation of adipocyte glycolytic and lipolytic metabolism. This pathway can be potentiated by the increase of catecholamines. The Wistar-Kyoto (WKY) and Spontaneously Hypertensive Rats (SHR) strains exhibet high catecholamines pattern and have different adipocyte profiles. This work aims to evaluate the influence of AII in the production of glycerol and lactate from these different strains.
Revista dos Trabalhos de Iniciação Científica da UNICAMP, 2018
A disciplina de Fisiologia Animal Comparada, oferecida como eletiva aos estudantes de Ciências Bi... more A disciplina de Fisiologia Animal Comparada, oferecida como eletiva aos estudantes de Ciências Biológicas da Unicamp, possui 4 créditos e relaciona diversos sistemas integrados da fisiologia de diferentes grupos de animais vertebrados e invertebrados. Como proposta de oferecimento da disciplina no segundo semestre de 2016, os alunos tiveram como desafio elaborar seminários do conteúdo programático e criar estudos de casos de acordo com os sistemas que estavam sendo abordados em sala. Estas atividades resultaram em um material complementar personalizado, contendo também questões e glossários ao fim de cada capítulo. Os estudos de casos eram escolhidos e elaborados pelos grupos de alunos dentro do tópico por eles retratado, os quais posteriormente eram debatidos. Nosso objetivo é transformar esse material em um livro, o qual poderá ser consultado por outros alunos tanto da Unicamp, quanto de outras faculdades e escolas, já que visamos também disponibilizar uma versão digital. Para que...
Anais do Congresso de Iniciação Científica da Unicamp, 2015
Cortisol is considered as the stress hormone. BDNF is involved in plasticity, including memory, l... more Cortisol is considered as the stress hormone. BDNF is involved in plasticity, including memory, learning and sleep. The hair cortisol assess chronic stress. Our goals are the standardization of cortisol quantification techniques in hair (chronic), BDNF in saliva and the polymorphism identification in this population.
XXV Congresso de Iniciação Científica da Unicamp, Oct 21, 2017
Uroanalysis reveals information about metabolic, hepatic, and renal function as well as indicatio... more Uroanalysis reveals information about metabolic, hepatic, and renal function as well as indications of the dysfunction etiology. It is a simple, practical and quick method to perform analysis of the biochemical urine constituents by markers in reagent strips. In this study, we evaluated the urine of Wistar, Wistar Kyoto (WKY) and spontaneously hypertensive rats (SHR). Uroanalysis of WKY and SHR rats indicated ketosis and increased protein presence than Wistar. The WKY and SHR urine was more diluted than Wistar. Only the WKY presented haemolysis. The results indicate absence of hepatic dysfunction and infections in the urine of the different strains of rats. Ketonuria corroborates with the fasting rat's state, hematuria is an indicative of the urinary system dysfunction and proteinuria specifically refers to renal dysfunction, these are related to high WKY weight and SHR hypertension. Dilution of urine may be related to hydroelectrolytic imbalance due to changes in the HPA axis presented by WKY and SHR.
T he application to join Brazilian universities is hard and an agent that increases stress reacti... more T he application to join Brazilian universities is hard and an agent that increases stress reaction in adolescents. The main problem is the low vacancy number at public universities, i.e. higher competition. In one state university, which offers 3.320 vacancies, received an increased number of inscriptions: 67.516 in 2014; 77.146 in 2015 and 77.760 in 2016, enhance of almost 16% in three years (1). The federal system is not different, in 2013 received more than 2.712.937 inscriptions to 171,401 vacancies of different universities (2). However, the competition test is only an additional stress agent for students in this age. Of all life-stages adolescence is arguably the one most marked by rapid and potentially tumultuous transition, including biological, social, and psychological changes as well as shifting self-concepts (3).
Abstract The exams periods are commonly reported to be stressful experiences. The relationship be... more Abstract The exams periods are commonly reported to be stressful experiences. The relationship between perceived stress and resilience is well established, however, the relationship with cortisol remains unclear. Considering the stressful environment provided by the university and the lack of studies in the Brazilian context, this study aimed to evaluate and associate perceived stress, resilience and salivary cortisol in pharmacy students during the exams period. Seventy-nine pharmacy undergraduates answered questionnaires related to perceived stress and resilience and collected five saliva samples in an exam and a rest day for cortisol measures at the final exams at the end of the school year. They reported higher scores of perceived stress and intermediate resilience. Women are less resilient and their total cortisol output (AUC) on exams day is significantly higher compared to the rest day, but this difference tends to disappear over the academic year or at the end years. Furthermore, they exhibited cortisol rhythmicity and preserved CAR, with no changes in a short period by the exams, indicating normal, healthy and adaptive HPA-axis reactions to stressors. This study highlighted that students can adapt to stressful situations due to a modulation in the production of cortisol over the time.
Increased adipose tissue mass exhibited greater capacity of glucose transformation in lactate, hi... more Increased adipose tissue mass exhibited greater capacity of glucose transformation in lactate, highlighting lactatogenesis as a crucial factor in body size. Classically, lactate produced by isolated adipocytes are expressed per million of cells and were never correlated with their size. Spontaneously hypertensive rats (SHR) have a lower body weight and smaller adipocytes when compared to Wistar-Kyoto. We evaluated basal lactate by epididymal 15weeks-old isolated adipocytes of SHR, Wistar-Kyoto and Wistar. Basal lactate was similar when expressed by one million cells. However, SHR adipocytes were smaller, so we adjusted the results by cell volume and SHR showed higher basal lactate production which was directly endorsed by hyperlactatemia in the presented conditions. Thereby, we suggest a new perspective on lactatogenesis analysis by adipocytes, which could be linked to the receptors density and associate enzymes. Moreover, we showed that the thin and hypertensive rats can be hyperlactemic in fasting conditions.
RESUMO O uso de animais com objetivos acadêmicos é uma prática comum que vem sendo criticada por ... more RESUMO O uso de animais com objetivos acadêmicos é uma prática comum que vem sendo criticada por diversas instituições e mesmo pela população, há mais de 10 anos. Atualmente, no Brasil, os graduandos podem se recusar a participar de aulas que utilizam de animais em salas de aula. Diversos docentes já utilizam material alternativo em suas aulas de neurociências. São utilizados vídeos ou softwares no lugar do uso de animais. Estas práticas têm tido grande aceitação dos alunos, que veem grande potencial no método, pois diferente do que ocorre com o uso do animal, no vídeo ou com a utilização de um software pode-se rever o experimento com detalhes, mesmo após a realização das aulas. Desse modo, ocorre melhor assimilação do conhecimento transmitido, favorecendo não só o aluno, mas também o docente e os demais envolvidos, pois se torna uma atividade mais dinâmica e menos traumática. Unitermos. Educação, Ensino, Alternativas Citação. Canova F, Silva PC, Grassi-Kassisse DM. Alternativas para a diminuição do uso de animais na educação.
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofac... more Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known si...
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