Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.

Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern is also reported. Here we described 2 families with members affected by ODDD.

Nonalcoholic fatty liver disease in adolescents with phenylketonuria.

Objective: This study aimed to investigate non-alcoholic fatty liver disease (NAFLD) occurrence and factors associated with the disease in phenylketonuria (PKU) patients undergoing exclusive dietary treatment.

Method: This cross-sectional study included 101 adolescents 10 to < 20 years of age with PKU, who were undergoing exclusive dietary treatment and monitored since early diagnosis at a single reference service. Anthropometric and biochemical assessments were performed and food intake was documented, and an ultrasound diagnosis of NAFLD was established.

High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature.

Monosomy 21 is an exceedingly rare and fatal chromosomal anomaly. Mosaic monosomy 21, however, can be observed in living patients. There have been discussions on whether there are liveborn cases with true mosaic full monosomy 21.

Overweight/obesity in adolescents with phenylketonuria: protective and predisposing factors.

Objective: To estimate the prevalence and factors associated with overweight/obesity development in adolescents with early diagnosed phenylketonuria treated exclusively by diet.

Methodology: In this cross-sectional study anthropometric measurements, serum phenylalanine levels, and 10 metabolites associated with lipid and carbohydrate metabolism were analyzed in 101 adolescents aged 10-20 years. Adolescents were categorized into overweight/obesity and eutrophic/low body mass index groups.

Body fat percentage in adolescents with phenylketonuria and associated factors.

Objective: To evaluate the percentage of body fat (% BF) in adolescents with PKU and to relate it to protein consumption, physical activity level, body mass index (BMI), sexual maturity and metabolic control.

Method: This is a cross-sectional study conducted with 94 adolescents between 10 and 20 years of age, with early diagnosis and continuous treatment. Bioimpedance, weight measurements, height and BMI calculation were performed.

BH deficiency identified in a neonatal screening program for hyperphenylalaninemia.

Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais.

Methods: Descriptive study of patients with BH deficiency identified by the Neonatal Screening Program of the State of Minas Gerais.

Results: The prevalence found was 2.

Nutritional management and postoperative prognosis of newborns submitted to primary surgical repair of gastroschisis.

Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration and requiring neonatal intensive care, early surgical correction, and parenteral nutrition. This study evaluated newborns with gastroschisis, seeking to associate nutritional characteristics with time of hospital stay.

Methods: This was a retrospective cohort study of 49 newborns undergoing primary repair of gastroschisis between January 1995 and December 2010.

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.

Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil.

Methods: A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method.

Uncommon oral cleft in Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed.

Metabolic syndrome in children and adolescents with phenylketonuria.

Objective: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU).

Methods: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin.

Are 22q11.2 distal deletions associated with math difficulties?

Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS.

Pre and perinatal aspects of congenital cystic adenomatoid malformation of the lung.

Objective: To identify the incidence of congenital cystic adenomatoid malformation of the lung (CCAM) at birth; to evaluate prenatal and perinatal history, association with clinical and sociodemographic variables and concordance between CT scan results and anatomopathology studies.

Method: Descriptive study based on the registry of malformed newborns, deliveries and patients records between August 1990 and November 2010. Ultrasonic, clinical, imaging and anatomopathologic information were studied.

A new case of keratoconus associated with Williams-Beuren syndrome.

Background: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified.

Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil.

Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria.

Methods: The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture.

Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria.

Objectives: To assess intelligence and its relationship with blood phenylalanine concentrations and socioeconomic status in patients with phenylketonuria after 6 to 12 years of treatment.

Methods: Sixty-three children were classified according to phenylalanine levels and socioeconomic status and assessed using the Wechsler Intelligence Scale for Children. The Statistical Package for the Social Sciences (SPSS) was used to analyze phenylalanine; ANOVA was used to analyze intelligence quotients (IQ) and phenylalanine levels; and ordinal logistic regression was used to analyze the likelihood of higher IQ.

Inbreeding and PKU allele frequency: Estimating by microsatellite approaches.

Unlabelled: Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q(2)). However, these estimates can be strongly biased due to inbreeding in the population.

Objectives: The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites.

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes.

Newborn screening: what pediatricians should know.

Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs.

Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001.

Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants.

Objective: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil.

Methods: A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy.

Breastfeeding in the treatment of children with phenylketonuria.

Objective: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants.

Methods: The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding.

The time has come: a new scene for PKU treatment.

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids.