Clinical and genetic analysis of two cases of Prader-Willi syndrome / 中国综合临床

Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report

@#We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.

Déficit de hormona del crecimiento como causa de baja talla / Loss growth hormone as cause of short stature

RESUMEN Fundamento: la talla baja supone un motivo de preocupación para los padres y es una causa muy frecuente de consulta en Pediatría y en Endocrinología Pediátrica. Objetivo: presentar el caso de un adolescente con baja talla por déficit de hormona del crecimiento. Presentación del caso: paciente adolescente de 12 años de edad que acude a consulta de Endocrinología por baja talla con examen físico normal y dosificaciones de hormona del crecimiento bajas en dos estudios de estimulación (test de clonidina e hipoglucemia inducida por insulina). Conclusiones: la baja talla por déficit de hormona del crecimiento es una de las causas corregibles de este trastorno.

ABSTRACT Background: short stature is a common cause of preoccupation in parents and it's a frequent shift complaint at Pediatric Endocrinology. Objective: to show the case of a teenager who had short stature due to loss growth hormone. Case report: a 12 years-old male teenager who came to Endocrinologist because of a short stature. Physical exam was normal meanwhile hormonal lab test shown loss growth hormone on two stimulated test (clonidine test and insulin-induced hypoglycemia). Conclusions: short stature due to loss growth hormone is a latent corrigible cause of that disorder.

Síndrome de Ellis Van Creveld / Ellis Van Creveld syndrome

Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.

Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.

Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Alteraciones estomatognáticas del síndrome 3M: reporte de dos casos / Stomatognathic alterations of 3m syndrome: two cases report

Resumen El síndrome 3M es un desorden autosómico recesivo, heterogéneo, poco común, llamado así por los tres investigadores que lo describieron por primera vez, Miller, Mckusck y Malvaux. Las características principales son retraso en el crecimiento prenatal y postnatal severo, dismorfias faciales y anomalías radiológicas. En sus manifestaciones estomatológicas presentan dolicocefalia, abombamiento frontal, cara triangular, labios gruesos, cejas pobladas, hipoplasia maxilar severa, facies melancólicas, retraso en la erupción dental severa y falta de crecimiento del macizo facial. El objetivo del artículo es la descripción de casos gemelares de 8 años y 6 meses de edad, que acuden a la Clínica de Atención Dental Avanzada de la Universidad de Monterrey, con confirmación del síndrome 3M por prueba sanguínea a los 4 años de edad por parte del Servicio de Genética del Hospital Universitario. Se realiza rehabilitación bucal de ambas niñas, y, posteriormente, son referidas a interconsulta con ortodoncia interceptiva. MÉD.UIS.2019;32(2): 59-65

Abstract 3M syndrome is very rare, it's a heterogeneous autosomal recessive disorder named after 3 researches who described it for the first time, Miller, Mckusck and Malvaux. Whose main characteristic are; delayed prenatal growth, severe postnatal growth, facial dysmorphia, radiological abnormalities, presence of dolichocephaly, frontal bulging, triangular face, thick lips, raised eyebrows, severe maxillary hypoplasia, melancholic facies, delayed severe dental eruption, lack of facial mass growth. The objective of the article is the description of twin cases that come to the Advanced Dental Care Clinic of the University of Monterrey; 8 years 6 months old, with confirmation of the 3M syndrome, with a blood test at 4 years of age by the Genetics Service of the University Hospital. MÉD.UIS.2019;32(2): 59-65

Hormona de crecimiento en sangre de papel filtro para el diagnóstico de deficiencia de hormona de crecimiento / Growth hormone of dried blood spot for the diagnosis of growth hormone deficiency

INTRODUCCIÓN: El diagnóstico de deficiencia de hormona de crecimiento (DHC) es difícil de establecer, y se puede asociar a serias complicaciones, especialmente en el período neonatal. La prueba de estímulo de secreción de hormona de crecimiento (HC) se considera de elección para el diagnóstico, pero presenta complicaciones metodológicas y se asocia a efectos adversos. Los neonatos presentan aumento de la secreción de HC de forma fisiológica, siendo una ventana diagnóstica. OBJETIVO: Evaluar si la muestra de sangre en papel filtro tomada en el período neonatal, en contexto del tamizaje neonatal de hipotiroidismo congénito y fenilcetonuria, permite diferenciar pacientes con DHC, de los que no la presentan. PACIENTES Y MÉTODO: Estudio de casos y controles mediante determinación de concentración de HC en sangre de papel filtro extraída en período neonatal, comparando controles con DHC con casos con deficiencia descartada. Se realizó extracción de la muestra del papel filtro, obteniendo dos discos de 0,125 pulgada por cada uno de los pacientes desde el centro de la mancha de sangre del papel, para un ELISA de HC humana altamente sensible basado en el uso de anticuerpos policlonales dirigidos contra la HC humana recombinante de 22kDa de peso molecular. RESULTADOS: Se obtuvo un total de 7 casos de DHC y 10 controles. La mediana de concentración de HC de papel filtro en los casos es 2,0 ng/ml (Rango intercuartil 3,6 ng/ml) y controles 2,05 ng/mL (RIC 2,0 ng/ml), U de Mann-Withney 30,5 (p = 0,68). Los dos casos con deficiencia de hormonas hipofisarias múltiples (DHHM) presentan concentraciones menores a 1 ng/ml. CONCLUSIÓN: La muestra de papel filtro no permitió diferenciar a los pacientes con DHC de los casos controles, aunque los casos con DHHM presentaron concentraciones mucho menores, en comparación a la deficiencia de hormona de crecimiento aislada (DHCA).

INTRODUCTION: The diagnosis of growth hormone deficiency (GHD) is difficult to determine, and could be associated with severe complications, especially in the neonatal period. The stimulation test of growth hormone (GH) secretion is considered the gold standard for diagnosis, but it has methodological complications and is associated with adverse effects. Neonates present physiological increased secretion of GH, representing a diagnostic window. OBJECTIVE: To evaluate if the dried blood spot on filter paper obtained in the neonatal period, as part of a neonatal screening for con genital hypothyroidism and phenylketonuria, allows differentiating patients with GHD from those who do not have it. PATIENTS AND METHOD: Study of cases and controls by measuring the GH concen tration in dried blood spot on filter paper obtained in the neonatal period, comparing controls with GHD with cases with discarded deficiency. The sample was extracted from the filter paper, obtaining two 0.125 inch discs per each patient from the center of the blood spot on the paper, for a highly sen sitive ELISA assay for human GH based on the use of polyclonal antibodies against 22 kDa recom binant human GH. RESULTS: Seven cases of GHD and ten controls were obtained. The median GH concentration of the dried blood spot in the cases is 2.0 ng/ml (Interquartile range 3.6 ng/ml) and 2.05 ng/ml (Interquartile range 2.0 ng/ml) in the controls, Mann-Whitney U test 30.5 (p = 0.68). The two cases with multiple pituitary-hormone deficiency (MPHD) present concentrations lower than 1 ng/ml. CONCLUSION: The dried blood spot sample did not differentiate GHD patients from control cases, although MPHD cases present much lower concentrations compared to isolated growth hor mone deficiency (IGHD).

Perfil epidemiológico dos pacientes atendidos por baixa estatura no ambulatório de endocrinologia pediátrica da UNIVALE (Itajaí-SC) / Epidemiological profile of pacients treated for short stature at the pediatric endocrinology outpatient of UNIVALE (Itajaí-SC).

A baixa estatura é a condição em que o paciente encontra-se abaixo de ­ 2 desvios-padrão da altura de crianças da mesma idade e sexo. Sua investigação, diagnóstico e tratamento, quando necessários e adequados, auxiliarão o paciente a atingir seu potencial de altura. O objetivo do presente estudo consiste na avaliação do perfil dos pacientes atendidos por baixa estatura no Ambulatório de Endocrinologia Pediátrica, e verificar sua resposta ao uso de hormônio de crescimento (GH), quando indicado. Para tanto, foi realizada análise de prontuários de 192 pacientes atendidos por baixa estatura, entre janeiro de 2000 a junho de 2014. Como resultado da análise, 55% dos pacientes apresentavam-se com estatura abaixo do normal para a idade e o sexo, e 43% abaixo do canal familiar de altura. A deficiência de hormônio de crescimento (DGH) foi encontrada em 27,6% dos pacientes, a baixa estatura familiar em 6,5% e a Síndrome de Turner (ST) em 3,9%. O tratamento com GH foi realizado em 30 pacientes, com média de idade de inicio de tratamento para os pacientes com DGH de 11,5 anos e de 9,5 anos para ST. A média do escore Z dos pacientes com DGH antes e depois do tratamento foi ­ 2,64 e ­ 2,15 (p<0,01); para a ST, não houve diferença estatisticamente significativa (p=0,79) após o uso de GH. Concluímos então que a deficiência de GH foi o diagnóstico mais encontrado, sendo o ganho de estatura com uso de GH estatisticamente significante nas pacientes com DGH, mas não nos pacientes com ST.

Short stature is a condition in which the patient lies down -2 standard-deviations of the hight of children of the same age and gender. The investigation, diagnosis and treatment when necessary, assist the patient to reach its full potential height. The objective of the study is to evaluate the profile of patients treated by short stature and verify the response to treatment with growth hormone (GH) when indicated. We analyzed medical records analysis of 192 patients treated by short stature, from January 2000 to June 2014. The results showed 55% of the patients presented with height below the minimum normal for age and sex and 43% were below the family hight zone. Growth hormone deficiency (GHD) was found in 27,6% of patients, low family stature by 6,5% and the Turner Syndrome (TS) at 3.9%. GH treatment was performed in 30 patients, with a average age of initiation of treatment for patients with GHD 11.5 years and 9.5 years for TS. The average Z-score of GHD patients before and after treatment was - 2.64 and - 2.15 (p <0.01); for TS, there was no statistically significant difference (p = 0.79) after the treatment with GH. We concluded that GH deficiency was the most common diagnosis; the gain in height with the use of GH was statistically significant in patients with GHD, but not in patients with TS.

JcZFP8, a C2H2 zinc finger protein gene from Jatropha curcas, influences plant development in transgenic tobacco

Background: Jatropha curcas L., as an important strategic biofuel resource with considerable economic potential, has attracted worldwide attention. However, J. curcas has yet to be domesticated. Plant height, an important agronomic trait of J. curcas, has not been sufficiently improved, and the genetic regulation of this trait in J. curcas is not fully understood. Zinc finger proteins (ZFPs), a class of transcription factors, have previously been shown to play critical roles in regulating multiple aspects of plant growth and development and may accordingly be implicated in the genetic regulation of plant height in J. curcas. Results: In this study, we cloned JcZFP8, a C2H2 ZFP gene in J. curcas. We found that the JcZFP8 protein was localized in the nucleus and contained a conserved QALGGH motif in its C2H2 structure. Furthermore, ectopic expression of JcZFP8 under the control of the 35S promoter in transgenic tobacco resulted in dwarf plants with malformed leaves. However, when JcZFP8 was knocked out, the transgenic tobacco did not show the dwarf phenotype. After treatment with the gibberellic acid (GA) biosynthesis inhibitor paclobutrazol (PAC), the dwarf phenotype was more severe than plants that did not receive the PAC treatment, whereas application of exogenous gibberellin3 (GA3) reduced the dwarf phenotype in transgenic plants. Conclusions: The results of this study indicate that JcZFP8 may play a role in J. curcas plant phenotype through GA-related pathways. Our findings may help us to understand the genetic regulation of plant development in J. curcas and to accelerate breeding progress through engineering of the GA metabolic pathway in this plant. How to cite: Shi X,Wu Y, Dai T, et al. JcZFP8, a C2H2 zinc-finger protein gene from Jatropha curcas, influences plant development in transgenic tobacco.

Desempenho cognitivo de pré-escolares com baixa estatura em tratamento de recuperação nutricional / Cognitive performance of stunted pre-school children undergoing nutritional recovery treatment

RESUMO Objetivo: Determinar se o tratamento de crianças com baixa estatura, ofertado em um centro especializado, influencia seu desempenho cognitivo. Métodos: Foram analisados dois grupos de crianças advindas de famílias vulneráveis, um com crianças com baixa estatura em tratamento no Centro de Recuperação e Educação Nutricional (CREN) e outro de crianças eutróficas de uma creche municipal localizada na mesma região do CREN. No CREN, as crianças são tratadas em semi-internato (9 horas/dia, 5 dias/semana), recebendo suporte médico, nutricional e psicopedagógico. Todas foram submetidas ao Teste de Triagem do Desenvolvimento de Denver-II e avaliadas quanto ao índice de estatura-para-idade em 3 momentos distintos: no início do acompanhamento e após 6 e 12 meses. A classificação socioeconômica das crianças, de acordo com os Critérios de Classificação Econômica Brasil, foi feita no início do acompanhamento. Calcularam-se razões de prevalência para a análise transversal da linha de base, por meio de uma regressão de Poisson, e razões de prevalência agrupadas para a análise longitudinal, por meio de um modelo de estimativas de equações generalizadas, ambas ajustadas por idade, sexo e classe socioeconômica. Resultados: Ao todo, 74 crianças foram analisadas, 37 em cada grupo. Não houve diferenças de idade, sexo e classe socioeconômica entre os grupos. Na análise longitudinal, o grupo CREN apresentou melhor desempenho no domínio pessoal-social (razão de prevalência agrupada: 0,89; intervalo de confiança de 95% - IC95%: 0,82-0,95), sem diferenças significativas para os demais domínios. Conclusão: O tratamento ofertado pelo CREN melhorou satisfatoriamente as habilidades sociais das crianças tratadas, sem alterar os demais domínios.

ABSTRACT Objective: To determine if the treatment of stunted children offered at a specialized center influences their cognitive performance. Methods: Two groups of children from vulnerable families were selected, one consisting of stunted children being treated at the Nutrition Education and Recovery Center (CREN), and the other group of eutrophic children from a local, public day care center. At CREN, children are treated in a day-hospital system (9 hours/day, 5 days/week), receiving medical, nutritional and psycho-pedagogical support. All children were submitted to the Denver-II Development Screening Test and had their development and the height-for-age index assessed at 3 moments: at the beginning of the follow-up, and after 6 and 12 months. The socioeconomic status, according to the Brazilian Economic Classification Criteria, was assessed at the beginning of the follow-up. Data were treated by prevalence ratios for cross-sectional baseline analysis, using the Poisson regression, and by pooled prevalence ratios for longitudinal analysis, using a generalized equation estimation model, both adjusted by age, sex and economic status. Results: Seventy-four children were included, 37 for each group. There were no differences in age, sex and socioeconomic status between groups. In the longitudinal analysis, the CREN group showed better performance in the personal-social domain (pooled prevalence ratio: 0.89; 95% confidence interval - 95%IC 0.82-0.95), with no differences in the other domains. Conclusions: The treatment offered at CREN satisfactorily improved the social skills of the treated children, without changing other domains.

Influence of growth hormone replacement on neurological and psychomotor development. Case report / Influência da reposição do hormônio do crescimento no desenvolvimento neuropsicomotor. Relato de caso

ABSTRACT The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a patient with excellent weight-height recovery and, even more surprisingly, neurological and psychomotor development in response to use of growth hormone. The result strengthens the correlation between experimental and clinical findings related to cerebral plasticity response to growth hormone in children. A preterm male patient with multiple health problems during the neonatal and young infancy period, who for six years presented with a relevant deficit in growth, bone maturation, and neurological and psychomotor development. At six years of age, he had low stature (z-score −6.89), low growth rate, and low weight (z-score −7.91). He was incapable of sustaining his axial weight, had not developed fine motor skills or sphincter control, and presented with dysfunctional swallowing and language. Supplementary tests showed low IGF-11 levels, with no changes on the image of the hypothalamus-pituitary region, and bone age consistent with three-year-old children — for a chronological age of six years and one month. Growth hormone replacement therapy had a strong impact on the weight-height recovery as well as on the neurological and psychomotor development of this child.

RESUMO A resposta estatural ao uso de hormônio do crescimento na baixa estatura já está comprovada na literatura. A influência dos componentes do eixo fator de crescimento semelhante à insulina tipo 1 (GH-IGF1) sobre desenvolvimento, função, regeneração, neuroproteção, cognição e funções motoras tem sido avaliada em estudos experimentais e em adultos com lesão de sistema nervoso central. No entanto, ainda são poucas as pesquisas sobre o impacto clínico da reposição hormonal no desenvolvimento neuropsicomotor. Este relato apresenta o caso de um paciente com excelente recuperação pôndero-estatural e, de forma ainda mais surpreendente, de desenvolvimento neuropsicomotor, em resposta ao uso de hormônio do crescimento. O resultado observado fortalece a correlação entre achados experimentais e clínicos, no que diz respeito à resposta da plasticidade cerebral ao hormônio do crescimento em crianças. Paciente do sexo masculino nasceu pré-termo com múltiplos agravos no período neonatal e de lactente jovem, e que, por 6 anos, apresentou deficit relevante do crescimento, na maturação óssea e do desenvolvimento neuropsicomotor. Aos 6 anos de idade, apresentava baixa estatura (escore Z de −6,89), baixa velocidade de crescimento e baixo peso (escore Z de −7,91). Era incapaz de sustentar o peso axial, não tinha desenvolvido habilidade motora fina e nem controle esfincteriano, e apresentava também disfunção na deglutição e na linguagem. Exames complementares mostraram IGF1 baixo, sem alterações na imagem da região hipotálamo-hipofisária e idade óssea compatível com 3 anos — para a idade cronológica de 6 anos e 1 mês. A terapia de reposição com hormônio do crescimento promoveu forte impacto na recuperação pôndero-estatural e também do desenvolvimento neuropsicomotor desta criança.

Agronomic performance of mini-tomato hybrids from dwarf lines / Desempenho agronômico de híbridos de minitomate provenientes de linhagens anãs

ABSTRACT Little is known about the commercial potential of mini-tomato hybrids obtained from one dwarf parent. Thus, our objective was to evaluate the agronomic performance of mini-tomato hybrids obtained by crossing a dwarf line (A) with normal lines with indeterminate (I), determinate (D) and semi-determinate (SD) growth habits. The experiment was conducted in a greenhouse at the Estação Experimental de Hortaliças at the Universidade Federal de Uberlândia-UFU in Monte Carmelo, Brazil. The experiment was completely randomized with 17 treatments and four repetitions. The genetic material consisted of 16 experimental mini-tomato hybrids from the tomato germplasm bank at UFU, and a commercial hybrid (Mascot) as a control. The following variables were used to evaluate agronomic performance: fruit weight (g); number of fruits plant-1; productivity (kg plant-1); number of bunches plant-1; number of fruits bunch-1; stem diameter (mm); distance between first bunch and soil (cm); internode length (cm) and total soluble solids (°Brix). The growth habit of the parents influenced the performance of the hybrids. In general, the mini-tomato hybrids from dwarf lines differed from the control with respect to all variables except number of fruits plant-1, number of fruits bunch-1 and stem diameter. On average, hybrids from dwarf lines showed higher productivity (20%), shorter internodes (11%) and a shorter distance between the first bunch and the ground (30%), relative to the control. Using dwarf lines to obtain mini-tomato hybrids was shown to be viable since the hybrids demonstrated better agronomic performance.

RESUMO Pouco se sabe a respeito do potencial comercial de híbridos de minitomate obtidos a partir de um genitor anão. Assim, o objetivo deste trabalho foi avaliar o desempenho agronômico de híbridos de minitomate obtidos pelo cruzamento entre linhagens anãs (A) versus linhagens normais de crescimento indeterminado (I), determinado (D) e semideterminado (SD). O experimento foi conduzido em casa de vegetação, na Estação Experimental de Hortaliças da Universidade Federal de Uberlândia (UFU), Monte Carmelo. Utilizou-se o delineamento inteiramente casualizado com 17 tratamentos e quatro repetições. O material genético consistiu de 16 híbridos experimentais de minitomate pertencentes ao Banco de germoplasma de tomateiro da UFU, e um híbrido comercial Mascot (testemunha). As variáveis utilizadas para analisar o desempenho agronômico foram: peso do fruto (g); número de frutos planta-1; produtividade (kg planta-1); número de pencas planta-1; número de frutos penca-1; diâmetro do caule (mm); distância do primeiro cacho ao solo (cm); comprimento de internódios (cm) e sólidos solúveis totais (ºBrix). O hábito de crescimento dos genitores influenciou o desempenho dos híbridos provenientes de linhagens anãs. De maneira geral, os híbridos de minitomate provenientes de linhagens anãs e a testemunha se diferenciaram em todas as variáveis, exceto no número de frutos planta-1, número de frutos penca-1 e no diâmetro do caule. Em média, os híbridos provenientes de linhagens anãs apresentaram maior produtividade (20%), internódios mais curtos (11%) e menor distância da primeira penca ao solo (30%) em relação à testemunha. A exploração de linhagens anãs demonstra ser viável na obtenção de híbridos de minitomate, uma vez que estes apresentam potencial comercial.

Growth habit in mini tomato hybrids from a dwarf line / Herança do hábito de crescimento de híbridos de minitomate obtidos por uma linhagem anã

The growth habit directly influences the tomato architecture, impacting on agronomic performance of mini-tomato hybrids. However, little is known about the growth habit of mini-tomatoes hybrids obtained by the crossing of dwarf lines versus normal lines with different growth habits. The objective of this study was to determine the type of growth that occurs when crossing a mini-tomato dwarf line versus normal phenotype lines with indeterminate, determined and semi-determinate growth habit. The methodology consisted of biparental crosses [determined from a cross between a dwarf line with normal lines of different growth habits (determinate, semi-determinate and indeterminate)] and reciprocal backcrosses of the F1 to the parents [normal lines (P1) and dwarf line (P2)], and obtained the F2 generation. Was evaluated phenotypically the growth habit in each generation. The growth habit proportions of F1 (P1xP2), F1 (P2xP1), F2, F1RC1 (P1) and F1RC1 (P2), were classified after checking the expected and observed frequencies using the ² test (F= 0.05). Was concluded that, when the determined and semi-determined growth habits are used as parents to produce hybrids, in F2 population growth habits shows 3:1 type segregation. Futhermore, regardless of the normal parent growth habit, the hybrids (F1) always will show indeterminate growth when they are crossed with the mini-tomato dwarf line of this study.

O hábito de crescimento influencia diretamente o desempenho agronômico de híbridos de minitomate. No entanto, pouco se sabe sobre o hábito de crescimento de híbridos de minitomate obtidos pelo cruzamento de linhagens anãs versus linhagens de fenótipos normais com diferentes hábitos de crescimento. O objetivo deste trabalho foi determinar o tipo de crescimento que ocorre entre o cruzamento de uma linhagem anã de minitomate versus linhagens de fenótipos normais com hábito de crescimento indeterminado, determinado e semi-determinado. A metodologia constou de cruzamentos biparentais recíprocos (determinados pelo cruzamento entre uma linhagem anã e linhagens normais com hábito de crescimento determinado, semi-determinado e indeterminado) e retrocruzamentos da geração F1 com os genitores [linhagens normais (P1) e linhagem anã (P2)] e obtenção de geração F2. O hábito de crescimento foi avaliado fenotipicamente em cada geração. As proporções do hábito de crescimento em F1(P1xP2), F1 (P2xP1), F2, F1RC1 (P1) e F1RC1 (P2), foram realizadas após verificação das frequências observadas e esperadas, utilizando o teste ² (F = 0,05). Foi concluído que, na obtenção de híbridos quando os genitores possuem hábito de crescimento determinado e semideterminado, na população F2 ocorre uma segregação do hábito de crescimento do tipo 3:1. Além disso, independentemente do hábito de crescimento dos parentais, os híbridos sempre irão possuir crescimento indeterminado quando forem obtidos pela linhagem anã de minitomate deste estudo.

Professor YE’s Clinical Experiences for Dwarfism Treatment Based on Spleen-insufficiency Constitution Related Theory / 浙江中医药大学学报

Objective]To explore Professor YE Jin’s clinical experiences for dwarfism treatment based on spleen-insufficiency constitution related theory. [Methods]From the concept of dwarfism based on TCM, etiology and pathogenesis, key symptoms of spleen-insufficiency constitution and features medication to analyse the academic perspective and clinical experience of Professor YE Jin in the treatment of dwarfism, and list 1 proven case.[Results]Professor YE Jin thinks there’re 5 types constitutions of dwarfism, and attaches importance to adjust the unbalanced constitution of the patients. She thinks spleen-insufficiency constitution is basis of the other four types. She does well in enlivening and invigorating the spleen and activating spleen-energy.[Conclusion] Professor YE Jin has unique clinical experience for dwarfism treatment based on spleen-insufficiency constitution related theory, with significant effect.

Novel compound heterozygous mutations of the PCNT gene in one Chinese boy with microcephalic osteodysplastic primordial dwarfism typeⅡ:case report and literature review / 中华内分泌代谢杂志

[Summary] Microcephalic or Majewski's osteodysplastic primordial dwarfism type Ⅱ ( MOPD Ⅱ) is an extremely rare genetic disease mainly caused by pericentrin ( PCNT) gene mutations. This paper reported one 13-year-old boy, who was admitted because of the slow growth for more than 13 years and deepened skin color over six months. He was diagnosed as MOPD Ⅱ associated with a combination of growth hormone deficiency, type 2 diabetes, hypertension, acanthosis nigricans, multiple café-au-lait spots. On magnetic resonance imaging of brain, no vascular malformations such as aneurysms were shown. There were novel compound heterozygous mutations of PCNT gene in the patient, with the nonsense mutations of c. 502C > T ( p. Gln168 * heterozygous variation) and c. 3103C > T (p. Arg1035* heterozygous variation). His father carried a nonsense mutation c. 3103C > T ( p. Arg1035 *heterozygous variation ) and his mother had a nonsense mutation c. 502C > T ( p. Gln168 * heterozygous variation). After treatment with metformin for three months, his blood glucose returned to normal, and acanthosis nigricans was improved. It seems critical to evaluate the abnormal condition of blood vessels regularly for MOPD Ⅱpatients with PCNT gene mutations.

Perceval S aortic valve implantation in an achondroplastic Dwarf.

Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58‑year‑old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography.

Displasia cefaloesquelética (Síndrome de Taybi-Linder): Presentación de un caso y consideraciones anestésicas / Cephaloskeletal dysplasia (Taybi-Linder syndrome): Case report and anesthetic considerations

Introduction: Microcephalic osteodysplastic primordial dwarfism (or Taybi-Linder syndrome) is a rare disease characterized by bone and central nervous system malformations, in addition to intrauterine retardation. Case presentation: 20-year-old patient operated on for adhesiolysis and enteropexy due to bowel obstruction from post surgical adhesions. Conclusion: The anesthetic considerations in these patients include the potential airway impairment secondary to facial malformations and neurological complications, primarily seizures.

Introducción: El enanismo microcefálico osteodisplásico primario (o síndrome de Taybi- Linder) es una infrecuente enfermedad caracterizada por malformaciones óseas, del sistema nervioso central y crecimiento intrauterino retardado. Presentación del caso: Paciente de 20 años intervenida de adhesiolisis y pexia intestinal por un cuadro de obstrucción intestinal por bridas postquirúrgicas. Conclusión: Como consideraciones anestésicas de estos pacientes destacamos las posibles alteraciones de la vía aérea secundarias a las malformaciones faciales y las complicaciones neurológicas, principalmente crisis convulsivas.

A Rare Case of Cockayne Syndrome.

Background: Cockayne syndrome is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Case: In this report we present a 24 year old male with decreased height, weight & reduced head circumference measuring 124 cm, 20 kg and 20 cm respectively. Cachectic dwarfism, ataxic gait, mental retardation, sunken eyes, hypoplastic maxilla, and parrot beak shaped nose giving “bird like facies” were other key features observed in our patient. Oral examination revealed congenital missing teeth and multiple dental caries teeth are also seen. Magnetic resonance imaging and computed tomography findings were also contributory to our diagnosis. Conclusion: This case report aims to rekindle and emphasis the diagnostic features of Cockayne syndrome & highlights the role of various investigations done by both medical & dental professionals to diagnose and manage the patient.

A diagnosis of hypochondroplasia by next generation sequencing

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.