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Clinical data and genetic mutation characteristics of a patient with Coffin-Siris syndrome by 6q25.3 deletion were summarized. The child was a 7-year and 6-month old girl who had feeding difficulties, repeated infection, language and motor retardation, low intelligence, laryngeal cartilage dysplasia, thick eyebrows, sparse teeth, hairy back, hyperactivity and aggressive behavior, seizures and ataxia. There was no abnormality in chromosomal karyotype analysis by proband; genomic copy number variant sequencing (CNV-seq) indicated approximately 4.27 Mb heterozygous deletion in chromosome 6q25.3 region, with 17 genes including ARID1B gene, father maternal CNV-seq showing no abnormalities. Trio-whole-exome sequencing showed the proband missed all exons 1-20 of the ARID1B gene, with wild-type parents. The proband had severe clinical symptoms and haplodose insufficiency which was the genetic etiology.
ABSTRACT
Objective:To improve understanding of autosomal dominant Coffin-Siris syndrome(CSS) caused by ARID2 variant via analyzing the clinical manifestations and genetic characteristics of this rare disease. Methods:Whole-exome sequencing was performed in a patient with CSS and her parents in Children′s Hospital of Chongqing Medical University, and genotype and phenotype were further analyzed.Results:The 2-month-old girl was admitted to hospital due to repeated vomiting for more than a month and one-time vaginal bleeding. She presented with severe malnutrition, special facial features, premature development of bilateral breasts, hymen protrusion, and vaginal bleeding. Gene sequencing revealed a de novo heterozygous frameshift mutation(c.1919delC, p. P640Lfs*7) in ARID2 gene, and no variant identified with her parents. It has been reported that the clinical manifestations of CSS caused by ARID2 variant are heterogeneous varing, mainly characterized by growth retardation, mental retardation, and feeding difficulties, accompanied by skeletal deformities, behavioral abnormalities, and visual impairment. Endocrine abnormalities are seldomly reported.Conclusion:For patients presenting growth retardation, special facial features, feeding difficulties, and unexplained vaginal bleeding, rare genetic syndrome should be considered and genetic testing be carried out. This is a novel variant(c.1919delC, p.P640Lfs*7) in ARID2.
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El presente estudio describe un caso de un niño de 6 años 9 meses de edad, atendido en el Centro de De-sarrollo Infantil de la Universidad de Cuenca (CEDIUC), con las características del Síndrome de Coffin Siris. El cariotipo 46xy, inv9 (p12q13), determinó por rasgos clíni-cos, el diagnóstico de Síndrome de Coffin Siris.Niño producto de cuarta gesta; antecedentes prena-tales: amenaza de aborto; antecedentes natales: nace a las 38.4 semanas de gestación con un diagnóstico de distrés respiratorio, por lo cual estuvo internado durante 15 días en la Unidad de Cuidados intensivos de la clínica Humanitaria; antecedentes post-natales: presentó retraso global en el desarrollo, además de otras afec-taciones como cardiopatía congénita, comunicación interventricular. Recibe tratamiento en varios Centros.El síndrome de Coffin-Siris es una enfermedad genética rara, con baja incidencia por lo que es poco estudiada, caracterizada por retardo mental, retraso en el desarro-llo psicomotor, facies toscas, pelo ralo e hipoplasia de la uña del quinto dedo.Se realizó una exhaustiva revisión bibliográfica, encon-trándose que el síndrome de Coffin-Siris es una enfer-medad genética poco frecuente; existen alrededor de 10 casos publicados en Latinoamérica; la etiología aún está en controversia, no ha podido definirse su localización cromosómica, pero algunos autores han plantea-do una posible herencia autosómica recesiva.
This study describes a case of a 6-years and 9-months-old child, who was attended at the Child Develop-ment Center of the University of Cuenca (CEDIUC), with the characteristics of the Coffin-Syndrome. The karyoty-pe 46xy, inv9 (p12q13), determined by clinical features the diagnosis of Coffin-Syndrome.Child product of the fourth pregnancy, prenatal history: threatened abortion; natal history: he born at 38.4 wee-ks of gestation with a diagnosis of respiratory distress, for this reason he was hospitalized for 15 days in the In-tensive Care unit of the Humanitarian clinic; post-natal history: he presented global developmental delay, in addition to other affections such as congenital heart di-sease and ventricular septal defect. He receives treat-ment in several centers.The Coffin-Siris syndrome is a rare genetic disease, with a low incidence and for this reason it is not studied enou-gh, it is characterized by mental retardation, delayed psychomotor development, coarse facies, thinning hair and hypoplasia of the fifth finger nail.A comprehensive bibliographic review was performed, and Coffin-Siris syndrome is a rare genetic disease with about 10 cases published in Latin America; the etiolo-gy is still controversial, its chromosomal location has not been defined, but some authors have raised a possible autosomal recessive inheritance.
Subject(s)
Humans , Male , Child , Syndrome , Rare Diseases , Genetic Diseases, Inborn , Congenital Abnormalities , Failure to Thrive , Heart Defects, Congenital , Intellectual DisabilityABSTRACT
Background: Acute pancreatitis refers to an acute inflammatory process of the pancreas, usually accompanied by abdominal pain and elevations of serum pancreatic enzymes. This syndrome is usually a discrete episode, which may cause varying degrees of injury to the pancreas, and adjacent and distant organs. Acute pancreatitis is a serious disease with high morbidity and mortality rates some 80% were mid attack which recovers rapidly with conservative management. The rest of 20 % were severe, with protracted course that needs intensive care and specialized management. Materials and methods: It was a prospective study. First 50 patients attending the surgical emergency ward with clinical features of Acute Pancreatitis were evaluated clinically and subjected to laboratory and radiological investigations as per the designed Performa. Data pertinent to the scoring systems were recorded within 24 hours of admission to the hospital. For each of 50 patients included in the study, BISAP and MCTSI scores were calculated by the manner described by Knaus, et al. and Cardinal Health Database system. Results: BISAP and MCTSI was correlated well for mortality with high positive value of 0.904 which was highly significant (0.01). The ROC analysis for Mortality showed BISAP score had AUC of 0.904, P value (0.001) which was more than MCTSI score which had AUC of 0.845, P value (0.007). So BISAP was highly accurate with P value (0.001) and confidence interval of 0.873. BISAP score was highly sensitive (100%), specificity (60%) at score more than 3.5. MCTSI score sensitivity was 85%, specificity was 77% at score more than 7. Conclusions: BISAP score was found to have more sensitivity, specificity and Diagnostic accuracy than MCTSI score in prediction of assessing the severity of acute pancreatitis. Hence, BISAP score G.V. Manoharan, C. Balamurugan, S. Shanmugam. A comparative evaluation of radiologic and clinical scoring system in the early prediction of severity in acute pancreatitis. IAIM, 2016; 3(7): 159-165. Page 160 found to predict more number of patients and likelihood of progressing to severe disease. Larven, et al. stated the same in their study 42. Hence, BISAP is considered as better available score for assessing the severity than MCTSI score.
ABSTRACT
O objetivo deste estudo foi avaliar o grau de contaminação mercurial em alguns representantes da biota aquática desteecossistema. Foram analisados 24 exemplares de acará (Geophagus brasiliensis), 18 de tainha (Mugil sp.), 18 de robalo(Centropomus sp.), 10 de siris (Callinectes sp.) e 10 pools de cracas (Balanus sp.). Para a determinação da concentração demercúrio total, utilizou-se o analisador Bacharach Coleman, modelo MAS-50 B, baseado na técnica de espectrofotometria deabsorção atômica por arraste de vapor a frio. O tratamento constou de uma análise descritiva simples e comparação dasmédias de concentração de Hg Total obtidos em cada porção estudada por análise de variância e pelo teste não-paramétricode Friedman, com objetivo de comparar a magnitude das variações. Outra análise estatística utilizada para interpretação dosresultados foi o Coeficiente de Correlação de Pearson, onde foi medido o grau de correlação entre duas variáveis. Os teoresmédios encontrados foram 0,015 mg.g-1 (0,001-0,105) nos exemplares de acará; 0,011 mg.g-1 (0,002-0,063) nas tainhas; 0,025mg.g-1 (0,015-0,041) nos robalos; 0,023 mg.g-1 (0,012-0,056) nos siris; e 0,057 mg.g-1 (0,042-0,075) nas cracas. Não foi encontradacorrelação entre o teor de Hg e tamanho e/ou peso das amostras em nenhum organismo estudado. Embora os valoresobtidos estejam abaixo do limite máximo permitido pela legislação brasileira, de 0,5 ppm e 1,0 ppm para predadores, é deextrema importância a monitorização dos teores de Hg na lagoa. Desta forma, os resultados servem de subsídios para umaação dos órgãos da saúde pública quanto à liberação ou não do consumo de pescado deste ecossistema.
The objective of this study was to evaluate the degree of mercury contamination in some organisms from this ecosystem. Assampling, it had been used 24 units of acará (Geophagus brasiliensis), 18 of tainha (Mugil sp.), 18 of robalo (Centropomussp.), 10 of crabs (Callinectes sp.) and 10 pools of barnacles (Balanus sp.). The analytical methodology for the determination ofthe total mercury concentration was using Bacharach Coleman Model MAS-50B employing cold vapor atomic absorptionspectrometry, which results are presented in micrograms of mercury per grams of sample (µg.g-1). The statistical treatment ofthe results consisted of a simple descriptive analysis and comparison of concentration of Total Hg in each portion studied byanalysis of variance and by Friedman test with objective of compare the magnitude of the variations. The coefficient of correlationbetween the variables was measured as well. The mean values obtained were 0.015mg.g-1 (0.001-0.105) in acará; 0.011mg.g-1(0.002-0.063) in tainha; 0.025 mg.g-1 (0.015-0.041) in robalo; 0.023 mg.g-1 (0.012-0.056) in crabs; and 0.057 mg.g-1 (0.042-0.075) in barnacle. There was not correlation between size/weight and the mercury concentration in neither studied organisms.Although the total mercury determined was bellow the allowed limit for human consumption established by Brazilian legislation,of 0,5 mg.g-1and 1,0 mg.g-1 to predators fish it is so much important to monitoring mercury values in the studied lagoon.Consequently, the results can supply an action of the public health agencies related to eating or not fishes from this ecosystem.