Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).@*METHODS@#A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.@*RESULTS@#WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother.@*CONCLUSION@#The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.

Clinical characteristics of four children with 3M syndrome and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features of 3M syndrome and effect of growth hormone therapy.@*METHODS@#Clinical data of four children diagnosed with 3M syndrome by whole exome sequencing at Hunan Children's Hospital from January 2014 to February 2022 were retrospectively analyzed, which included clinical manifestation, results of genetic testing and recombinant human growth hormone (rhGH) therapy. A literature review was also carried our for Chinese patients with 3M syndrome.@*RESULTS@#The clinical manifestations of the 4 patients included severe growth retardation, facial dysmorphism and skeletal malformations. Two patients were found to harbor homozygous variants of CUL7 gene, namely c.4717C>T (p.R1573*) and c.967_993delinsCAGCTGG (p.S323Qfs*33). Two patients were found to harbor 3 heterozygous variants of the OBSL1 gene including c.1118G>A (p.W373*), c.458dupG (p.L154Pfs*1002) and c.690dupC (p.E231Rfs*23), among which c.967_993delinsCAGCTGG and c.1118G>A were unreported previously. Eighteen Chinese patients with 3M syndrome were identified through the literature review, including 11 cases (11/18, 61.1%) carrying CUL7 gene variants and 7 cases (7/18, 38.9%) carrying OBSL1 gene variants. The main clinical manifestations were in keeping with previously reported. Four patients were treated with growth hormone, 3 showed obvious growth acceleration, and no adverse reaction was noted.@*CONCLUSION@#3M syndrome has a typical appearance and obvious short stature. To attain accurate diagnosis, genetic testing should be recommended for children with a stature of less than -3 SD and facial dysmorphism. The long-term efficacy of growth hormone therapy for patients with 3M syndrome remains to be observed.

Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genetic etiology of a Chinese pedigree affected with short stature.@*METHODS@#A child with familial short stature (FSS) who had presented at the Ningbo Women and Children's Hospital in July 2020 and his parents and paternal and maternal grandparents were selected as the study subject. Clinical data of the pedigree was collected, and the proband was subjected to routine growth and development assessment. Peripheral blood samples were collected. The proband was subjected to whole exome sequencing (WES), and the proband, his parents and grandparents were subjected to chromosomal microarray analysis (CMA).@*RESULTS@#The height of the proband and his father was 87.7cm (-3 s) and 152 cm (-3.39 s) respectively. Both of them were found to harbor a 15q25.3-q26.1 microdeletion, which has encompassed the whole of the ACAN gene which is closely associated with short stature. The CMA results of his mother and grandparents were all negative, and above deletion has not been included in population database and related literature, and was rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). After 14 months of rhGH treatment, the height of the proband has increased to 98.5 cm (-2.07 s).@*CONCLUSION@#The 15q25.3-q26.1 microdeletion probably underlay the FSS, in this pedigree. Short-term rhGH treatment can effectively improve the height of the affected individuals.

Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical and genetic characteristics of a patient with STISS syndrome due to variant of PSMD12 gene.@*METHODS@#Clinical data and result of genetic testing of a patient who was admitted to Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine on October 4, 2020 were analyzed, together with a review of relevant literature.@*RESULTS@#The patient was found to harbor a heterozygous c.601C>T (p.Arg201*) nonsense variant of the PSMD12 gene, which was unreported previously. Clinically, the height of the patient has differed significantly from reported in the literature. An extremely rare case of STISS syndrome due to variant of the PSMD12 gene has been diagnosed.@*CONCLUSION@#Whether the severely short stature is part of the clinical spectrum for PSMD12 gene variants needs to be further explored, and the efficacy and safety of growth hormone therapy has yet to be determined.

Dynamic Self-Determination of Self-Care and Positive Deviance Model for Stunting Prevention in Indonesia

ABSTRACT Objective: To describe the dynamic self-determination of self-care (DSDoSC) and positive deviance (PD) models in changing stunting prevention behavior. Material and Methods: This research is a quasi-experimental study with a sample of 90 mothers taken by purposive sampling. Thirty mothers were given the DSDoSC intervention, 30 were given the PD intervention, and another 30 were in the control group. This research was conducted in July - October 2019. The variables studied were feeding behavior, nurturing behavior, personal hygiene behavior, environmental cleanliness and air sanitation, and behavior seeking health services. To analyze the difference in mother behaviour before and after test, we used Paired t-test. Analysis of Variance (MANOVA) was used to analyze the difference of mother behaviour among groups. The level of significance was p<0.05. Results: The PWD group showed that eating behavior, parenting behavior, personal hygiene behavior, environmental hygiene and water sanitation, and behavior seeking health services had significant numbers. In the DSDoSC group, eating behavior, parenting behavior, environmental hygiene, water sanitation and health service-seeking behavior were significantly (p<0.05). The results of the Manova test showed that there was an effect of PD and DSDoSC on stunting prevention behavior. Conclusion: Self-dynamic for self-care model and the positive deviance model both can change a mother's behavior for the better in feeding, parenting, environmental hygiene, and water sanitation, seeking health services, but not changing behavior about personal hygiene behavior.

Hipocondroplasia en pediatría: reporte de un caso / Hypocondroplasya in pediatrics: case study / Hipocondroplasia em pediatia: relato de caso

La hipocondroplasia es una displasia esquelética caracterizada por baja estatura, constitución robusta, brazos y piernas desproporcionadamente cortos, manos y pies anchos y cortos, leve laxitud articular y macrocefalia. Los niños generalmente se presentan como pequeños, con velocidad de crecimiento disminuida, que conduce a una baja estatura y desproporción de las extremidades. La hipocondroplasia en la mayoría de los casos se hereda con carácter autosómico dominante, aunque se detectan numerosos casos esporádicos. El diagnóstico requiere una exhaustiva anamnesis y adecuada exploración física. Es importante valorar algunos indicadores de crecimiento como: peso para la edad, longitud/talla para la edad, relación entre peso y longitud/talla, velocidad de crecimiento, talla diana genética, medidas de segmentos corporales, entre otros. Las radiografías esqueléticas permiten diagnosticar la mayoría de las displasias óseas. Los estudios moleculares suelen ser la prueba de confirmación y se solicitan ante una sospecha diagnóstica. Es importante incluir las displasias óseas en el diagnóstico diferencial de la talla baja y tenerlas en cuenta ante cualquier caso de talla baja disarmónica con alteraciones fenotípicas. La hipocondroplasia en la actualidad, no es una indicación aprobada para tratamiento con hormona del crecimiento. Se presenta un caso clínico de una niña de 14 meses, con talla baja severa, desproporcionada, que presentó dificultades para llegar al diagnóstico definitivo de hipocondroplasia.

Hypochondroplasia is a skeletal dysplasia characterized by short height, robust build, disproportionately short arms and legs, short and broad hands and feet, mild joint laxity, and macrocephaly. Children generally show slow growth rate, which leads to short stature and limb disproportion. Hypochondroplasia is mostly inherited with an autosomal dominant character, although many sporadic cases have been detected. Diagnosis requires a thorough history and adequate physical examination. It is important to assess some growth indicators such as: weight for age, length/height for age, relationship between weight and length/height, growth speed, genetic target height, measurements of body segments, among others. Skeletal XRs can diagnose most bone dysplasias. Molecular studies are usually the confirmatory test and are requested when a diagnosis is suspected. It is important to include bone dysplasias in the differential diagnosis of short stature and to take them into account for any disharmonious short stature with phenotypic alterations. Hypochondroplasia is currently not an approved indication for growth hormone therapy. We present a clinical case of a 14-month-old girl, with a severe, disproportionate short stature, who presented difficulties in her definitive hypochondroplasia diagnosis.

A hipocondroplasia é uma displasia esquelética caracterizada por baixa estatura, constituição robusta, braços e pernas desproporcionalmente curtos, mãos e pés largos e curtos, frouxidão articular leve e macrocefalia. As crianças geralmente são pequenas, com diminuição da velocidade de crescimento, o que leva à baixa estatura e desproporção dos membros. A hipocondroplasia na maioria dos casos é herdada com caráter autossômico dominante, embora sejam detectados numerosos casos esporádicos. O diagnóstico requer uma história completa e um exame físico adequado. É importante avaliar alguns indicadores de crescimento como: peso para idade, comprimento/altura para idade, relação entre peso e comprimento/altura, taxa de crescimento, estatura alvo genético, medidas de segmentos corporais, entre outros. As radiografias esqueléticas permitem o diagnóstico da maioria das displasias ósseas. Os estudos moleculares são geralmente o teste de confirmação e são solicitados quando há suspeita de diagnóstico. É importante incluir as displasias ósseas no diagnóstico diferencial da baixa estatura e considerá-las em qualquer caso de baixa estatura desarmônica com alterações fenotípicas. A hipocondroplasia não é atualmente uma indicação aprovada para o tratamento com hormônio de crescimento. Apresenta-se o caso clínico de uma menina de 14 meses, com baixa estatura grave e desproporcional, que apresentou dificuldades em chegar ao diagnóstico definitivo de hipocondroplasia.

Prevalence and determinants of stunting among preschool and school-going children in the flood-affected areas of Pakistan / Prevalência e determinantes da baixa estatura entre crianças em idade pré escolar e em idade escolar nas áreas afetadas pelas enchentes do Paquistão

Stunting is a significant public health problem in low- and middle-income countries. This study assessed the prevalence of stunting and associated risk factors of stunting among preschool and school-going children in flood-affected areas of Pakistan. A cross-sectional study was conducted by visiting 656 households through multi-stage sampling. Respondent's anthropometric measurements, socio-demographic information and sanitation facilities were explored. A logistic regression model was used to determine determinants of stunting, controlling for all possible confounders. The overall prevalence of stunting in children was 40.5%, among children 36.1% boys and 46.3% of girls were stunted. The prevalence of stunting in under-five children was 50.7%. Female children (OR=1.35, 95% CI:0.94-2.0), children aged 13-24 months (OR=6.5, 95% CI: 3.0-13.9), mothers aged 15-24 years (OR=4.4, 95% CI: 2.6-7.2), joint family (OR=2.1, 95% CI: 1.4-3.0) did not have access to improved drinking water (OR=3.3, 95% CI: 1.9-5.9), and the toilet facility (OR=2.8, 95% CI, 1.9-4.3), while the children from district Nowshera (OR=1.7, 95% CI: 0.9-3.2) were significantly (P<0.05) associated in univariate analysis. The regression model revealed that child age, maternal age, family type, quality of water, and toilet facility, were the significant (P<0.05) factors contributing to child stunting in the flood-hit areas. Identification of key factors might be helpful for policymakers in designing comprehensive community-based programs for the reduction of stunting in flood-affected areas. In disasters such as flood, the detrimental consequences of the stunting problem could be even more on children. Evidence-based education and care must be provided to the families in the flood-affected regions to reduce the stunting problem. The determinants of stunting should [...].

A baixa estatura é um problema significativo de saúde pública em países de baixa e média renda. Este estudo avaliou a prevalência de nanismo e os fatores de risco associados de nanismo entre crianças em idade pré-escolar e em idade escolar em áreas afetadas por inundações do Paquistão. Foi realizado um estudo transversal visitando 656 domicílios por meio de amostragem em múltiplos estágios. As medidas antropométricas do entrevistado, informações sociodemográficas e instalações de saneamento foram exploradas. Um modelo de regressão logística foi usado para determinar os determinantes do nanismo, controlando todos os possíveis fatores de confusão. A prevalência geral de baixa estatura em crianças foi de 40,5%, entre as crianças 36,1% dos meninos e 46,3% das meninas com baixa estatura. A prevalência de baixa estatura em crianças menores de 5 anos foi de 50,7%. Crianças do sexo feminino (OR = 1,35, IC de 95%: 0,94-2,0), crianças de 13-24 meses (OR = 6,5, IC de 95%: 3,0-13,9), mães de 15-24 anos (OR = 4,4, IC de 95%: 2,6-7,2), família conjunta (OR = 2,1, IC 95%: 1,4-3,0) não tiveram acesso a água potável de qualidade (OR = 3,3, IC 95%: 1,9-5,9) e a banheiro (OR = 2,8, IC de 95%, 1,9-4,3), enquanto as crianças do distrito de Nowshera (OR = 1,7, IC de 95%: 0,9-3,2) foram significativamente (P < 0,05) associadas na análise univariada. O modelo de regressão revelou que a idade da criança, idade materna, tipo de família, qualidade da água e banheiro foram os fatores significativos (P < 0,05) que contribuíram para a baixa estatura infantil nas áreas afetadas pelas enchentes. A identificação de fatores-chave pode ser útil para os formuladores de políticas no planejamento de programas comunitários abrangentes para a redução da baixa estatura em áreas afetadas pelas enchentes. Em desastres como enchentes, as consequências prejudiciais do problema de baixa estatura podem [...].

Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting.@*RESULTS@#A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant.@*CONCLUSION@#The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family.

Anthropometric and dietary assessment of patients with glycogenosis type i / Avaliação antropométrica e dietética de pacientes com glicogenose tipo i

ABSTRACT Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the classification of glycogenosis (type Ia=5 and type Ib=6), aged between 4 and 20 years. The analyzed anthropometric variables were weight, height, body mass index, and measures of lean and fat body mass, which were compared with reference values. For dietary assessment, a food frequency questionnaire was used to calculate energy and macronutrients intake as well as the amount of raw cornstarch consumed. Mann-Whitney U test and Fisher's exact test were performed, considering a significance level of 5%. Results: Patients ingested raw cornstarch in the amount of 0.49 to 1.34 g/kg/dose at a frequency of six times a day, which is lower than recommended (1.75-2.50 g/kg/dose, four times a day). The amount of energy intake was, on average, 50% higher than energy requirements; however, carbohydrate intake was below the adequacy percentage in 5/11 patients. Short stature was found in 4/10 patients; obesity, in 3/11; and muscle mass deficit, in 7/11. There were no statistical differences between the subgroups. Conclusions: In patients with glycogenosis type I, there was deficit in growth and muscle mass, but no differences were found between the subgroups (Ia and Ib). Although the diet did not exceed the adequacy of carbohydrates, about 1/3 of the patients presented obesity, probably due to higher energy intake.

RESUMO Objetivo: Realizar avaliação antropométrica e dietética de pacientes com glicogenose tipos Ia e Ib. Métodos: Estudo transversal composto de uma amostra de 11 pacientes com glicogenose divididos em dois subgrupos de acordo com a classificação da glicogenose (tipo Ia=5; tipo Ib=6), com idades entre 4 e 20 anos. As variáveis antropométricas analisadas foram peso, estatura, índice de massa corporal e medidas de massa magra e gorda, que foram comparadas com valores de referência. Para avaliação dietética, foi utilizado um questionário de frequência alimentar para cálculo de ingestão de energia e macronutrientes, além da quantidade de amido cru ingerida. Realizaram-se testes U de Mann-Whitney e exato de Fisher, com nível de significância de 5%. Resultados: Os pacientes ingeriram amido cru na quantidade de 0,49 a 1,34 g/kg/dose na frequência de seis vezes ao dia, inferior à dosagem preconizada (1,75-2,50 g/kg/dose quatro vezes ao dia). A quantidade de energia consumida foi, em média, 50% a mais que as necessidades, contudo o consumo de carboidratos foi abaixo da porcentagem de adequação em 5/11 pacientes. Baixa estatura ocorreu em 4/10 pacientes, obesidade em 3/11 e déficit de massa muscular em 7/11. Não houve diferença estatística entre os subgrupos. Conclusões: Em pacientes com glicogenose tipo I, houve déficit de crescimento e de massa muscular, mas não diferença significante entre os subgrupos (Ia e Ib). Embora a dieta não tenha ultrapassado a adequação de carboidratos, 1/3 dos pacientes apresentou obesidade, provavelmente pela maior ingestão de energia.

Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.

Clinical and molecular genetic analysis of a patient with 3-M syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.@*METHODS@#After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.@*RESULTS@#A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously.@*CONCLUSION@#Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.

Siblings Seckel's syndrome 1 caused by ATR gene variants in a sibpair / 中华医学遗传学杂志

OBJECTIVE@#Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease.@*METHODS@#Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed.@*RESULTS@#The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children.@*CONCLUSION@#Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.

Differences in Quality of Life of Stunting Children based on Caries Status in Indonesia / Diferenças na qualidade de vida de crianças com nanismo baseado no status de cárie na Indonésia / Differences in Quality of Life of Stunting Children based on Caries Status in Indonesia

Objective: The aim of this study was to determine the difference in quality of life of stunting children in Enrekang District based on their caries status. Material and Methods: This study was an observational analitic study with a cross sectional design, conducted in Buntu Batu, Baraka, and Malua Sub-district of Enrekang District on April 29-May 3, 2019. Height measurements, def-t/DMF-T, pufa/PUFA assessment of stunting children 6-12 years old, and assessment of quality of life related to oral health of children 8-12 years using the CPQ questionnaire. Data were collected, 123 children suffered from stunting. Results: Based on the Mann Whitney Test, p value < 0.05 showed that there were differences that statistically significant on def-t and pufa to quality of life of 8-10 years. The p value > 0.05 indicates that there are no significant differences in def-t/ DMF-T and pufa/PUFA to quality of life of 11-12 years stunting children. Conclusion: There are differences in caries of primary teeth between stunting children aged 8 -10 years to their quality of life. At the age of 11-12 years there is no difference in caries to quality of life in Enrekang District.(AU)

Objetivo: O objetivo deste estudo foi determinar a diferença na qualidade de vida de crianças com nanismo no Distrito de Enrekang, com base no status de cárie. Material e métodos: Este estudo foi um estudo analítico observacional com um desenho transversal, realizado no Subdistrito de Buntu Batu, Baraka e Malua, no Distrito de Enrekang, de 29 de abril a 3 de maio de 2019. Medidas de altura, def-t/DMF-T, pufa/PUFA de crianças com nanismo de 6 a 12 anos, e avaliação da qualidade de vida relacionada à saúde bucal de crianças de 8 a 12 anos usando o questionário CPQ. Os dados foram coletados e 123 crianças sofriam de nanismo. Resultados: Com base no teste de Mann Whitney, o valor de p < 0,05 mostrou que houve diferenças estatisticamente significantes em def-t e pufa entre a qualidade de vida de 8 a 10 anos com nanismo em crianças com impacto e aquelas sem impacto, enquanto os valores de p = 0,05 e 0,295 apresentaram diferenças não significativas no DMF-T e no PUFA. O valor de p> 0,05 indica que não há diferenças significativas em def-t / DMF-T e pufa / PUFA entre a qualidade de vida de 11 a 12 anos com nanismo em crianças com impacto e aquelas que não têm impacto. Conclusão: Existem diferenças na cárie de dentes decíduos entre crianças com nanismo entre 8 e 10 anos que causam impacto e aquelas que não têm impacto na qualidade de vida. No entanto, não há diferença nos dentes permanentes. Na idade de 11 a 12 anos, não há diferença na cárie entre dentes decíduos e dentes permanentes entre aqueles que causam impacto e aqueles que não causam impacto.(AU)

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

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS).@*METHODS@#Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene, among which c.494T>C (p.Met165Thr) was inherited from her father and reported to be pathogenic by HGMD. c.848A>G (p.His283Arg) was inherited from her mother and was predicted to be likely pathogenic according to the ACMG 2015 guidelines.@*CONCLUSION@#The compound heterozygous variants of c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene probably underlie the disease in the proband.

Clinical effect of letrozole in treatment of idiopathic short stature in adolescent boys / 中国当代儿科杂志

OBJECTIVE@#To evaluate the therapeutic effect and safety of letrozole in the treatment of adolescent boys with idiopathic short stature (ISS).@*METHODS@#A retrospective analysis was performed for the clinical data of 16 adolescent boys with ISS who had a bone age of ≥14 years. Among these boys, 8 were initially treated with recombinant human growth hormone (rhGH), followed by rhGH combined with letrozole during a bone age of 14-15.5 years. The other 8 boys were initially treated with rhGH combined with letrozole since their bone age was ≥14 years at diagnosis. Of the 16 boys, 16 were treated for not less than 6 months, 12 were treated for not less than 1 year, and 5 were treated for not less than 1.5 years. The increase in bone age, predicted adult height (PAH), final adult height, sex hormones, and adverse reactions after treatment were analyzed.@*RESULTS@#After 6 months, 1 year, and 1.5 years of treatment, median bone age was increased by 0 year, 0.5 year, and 0.5 year respectively, which was significantly lower than the increase in age (P0.05).@*CONCLUSIONS@#In adolescent boys with ISS and a high bone age, rhGH combined with letrozole can safely and effectively delay the increase in bone age and improve PAH and final adult height, with little adverse effect.

Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome.@*METHODS@#Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father.@*CONCLUSION@#The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.

Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report

BACKGROUND: Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant disease. The patients with achondroplasia suffer from various complications such as craniofacial, central nervous system, spinal, respiratory and cardiac anomalies.CASE DESCRIPTION: We report a case of a 35-year-old man with achondroplasia who visited the emergency room with right hemiplegia and aphasia within 6 hours after onset. An Initial CT angiography showed the total occlusion of a left internal cerebral artery due to the thrombus. We treated the patient with endovascular thrombectomy using “Solumbra technique” with balloon guiding catheter. The procedure was successful and result was completely recanalized with Thrombolysis in Cerebral Infarction (TICI) scale 3 and the weakness also improved from grade II to grade IV.CONCLUSION: Acute ischemic stroke patients with achondroplasia could be treated with mechanical thrombectomy.

Niño con síndrome tricorrinofalángico tipo II acompañado de baja estatura / Triehorhinophalangeal syndrome type II presenting with short stature in a child

El síndrome tricorrinofalángico (STRF) tipo II (sinónimo: síndrome de Langer-Giedion) es un síndrome autosómico dominante raro que afecta genes adyacentes y que se produce como resultado de una microdeleción que abarca los genes EXTl y TRPSl en la banda 8q24 (OMIM 150230). En este síndrome se combinan características de dos trastornos autosómicos dominantes: el síndrome tricorrinofalángico tipo I (OMIM 190350) y la osteocondromatosis múltiple hereditaria tipo I (OMIM 133700). El STRF tipo II se caracteriza por escaso cabello, nariz prominente y de extremo bulboso, surco nasolabial plano y alargado, epífisis de las falanges en forma de cono, retraso de la edad ósea durante la infancia y osteocondromas cartilaginosos múltiples. En este artículo presentamos el caso de un paciente de Turquía con las características clínicas y los signos óseos del STRF tipo II en el que se detectó una deleción de 13,8 Mb en las bandas 8q23.1-8q24.13.

Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas. We report a Turkish patient who had the clinical features and skeletal signs of TRPSII in whom a 13.8Mb deletion in 8q23.1- 8q24.13 was detected.

La deficiencia de zinc: un problema global que afecta la salud y el desarrollo cognitivo / Zinc deficiency: a global problem that affect the health and cognitive development

La deficiencia de zinc afecta aproximadamente un tercio de la población mundial, principalmente en los países en vía de desarrollo, en las áreas rurales y en las comunidades más pobres, donde constituye un importante factor de riesgo asociado a enfermedad. En este trabajo se realiza una revisión de los avances científicos que han permitido conocer el papel fundamental del zinc en el control de la neurogénesis, el funcionamiento del cerebro y el desarrollo cognitivo. Con el fin de generar en los profesionales de salud, interés por la investigación de los efectos de la deficiencia de zinc en el desarrollo neurológico y cognitivo y su impacto negativo en el desarrollo cultural, social y económico de los pueblos(AU)

The zinc deficiency affects approximately a third of the world population, principally in the developing countries, the rural areas and in the poorest communities, where this micronutrient deficiency is one of the most prevalent risk factor for nutrientrelated diseases. This paper compiles scientific advances about the key role of the essential trace element zinc in the neurogenesis control, brain function and cognitive development. The aim of this work is to generate in health professionals, interest about the zinc deficiency effects in neuro-intellectual development and its negative impact in the cultural, economic and social development of the countries(AU)