Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.Genetics of disease, diagnosis and treatmen

The impact of percutaneous endoscopic gastrostomy feeding upon daily life in adults.

Background:  The provision of home enteral tube feeding in adults has increased in the UK. This study explored how percutaneous endoscopic gastrostomy (PEG) feeding impacts on daily lives of adult patients, from the patients’ and carers’ perspectives. Methods:  A semi-structured interview approach was developed to obtain participants’ views of the impact of living with a PEG. A cross-sectional qualitative purposive sampling design was employed. Thirty-four semi-structured interviews were conducted (15 adult patients and 19 carers) and data were analysed descriptively and thematically. Results:  Difficulties arising from PEG feeding included vomiting, diarrhoea, infection of the PEG site and leakage. The key issues that emerged included relief of pressure to consume an oral diet, disturbed sleep, restricted ability to go out, restricted choice of clothing, difficulties finding a place to feed, missing being able to eat and drink, social occasions, negative attitudes of others towards feeding and the burden placed on family members. Conclusions:  The key themes that emerged from participants were diverse and highlight a need for increased social support for both patients and their carers, planned on an individual basis

Impacto da farinha de mandioca fortificada com ferro aminoácido quelato no nível de hemoglobina de pré-escolares Impact of cassava flour fortified with iron amino acid chelate on the hemoglobin level in pre-schools

OBJETIVO: Avaliou-se o impacto da farinha de mandioca fortificada com ferro aminoácido quelato em 80 pré-escolares de uma Unidade Filantrópica de Manaus, AM, distribuídos aleatoriamente em quatro grupos de 20 crianças cada, por um período de 120 dias. MÉTODOS: Foram utilizadas farinha de mandioca sem fortificação (Grupo zero) e fortificada com 1, 2 e 3mg de Fe/dia, correspondendo a quantias diárias de 5, 10 e 15g de farinha, respectivamente, as quais foram distribuídas no horário do almoço, sendo ainda entregue às famílias a quantidade destinada ao consumo do final de semana. O estado nutricional das crianças foi avaliado no início e ao final do experimento, adotando-se como limite discriminatório entre eutrofia/desnutrição o ponto de corte <-2 escores-Z, de acordo com os critérios da Organização Mundial da Saúde, e estabelecendo-se como ponto de corte para a ocorrência de anemia ferropriva o teor de hemoglobina inferior a 11g/dL. RESULTADOS: Houve uma recuperação das crianças com desnutrição crônica ao final do estudo, e ocorreu um aumento significativo (p<5%) dos valores de hemoglobina de todos os pré-escolares, independentemente da concentração de ferro, de 11,4 &plusmn; 0,9g/dL para 12,2 &plusmn; 0,8g/dL. As crianças anêmicas que receberam a farinha de mandioca fortificada com 2mg de Fe/dia foram plenamente recuperadas ao final da pesquisa, demonstrando um bom desempenho desse grupo em relação aos demais. CONCLUSÃO: Sugere-se um estudo duplo cego para a consolidação da recomendação da farinha de mandioca fortificada com ferro na prevenção de anemia ferropriva em pré-escolares da região amazônica.<br>OBJECTIVE: The impact of the cassava flour fortified with iron amino acid chelate was evaluated in 80 pre-scholars of a Philanthropic Unit of Manaus, state of Amazonas, randomly distributed in four groups of 20 children each, for a period of 120 days. METHODS: Cassava flour was used without fortification (group zero) or fortified with 1, 2 and 3mg of Fe/day, corresponding respectively to 5, 10 and 15g of flour/day, which were given to the children at lunch time on weekdays. The equivalent amount was previously distributed to their families for flour intake also during the weekends. In the beginning and at the end of the experiment the children's nutritional status was evaluated, being adopted the cutoff point <-2 Z-scores as a discriminating limit between eutrophy/malnutrition, in agreement with the World Health Organization criteria, as well as being established as a cutoff point for the occurrence of iron deficiency anemia a hemoglobin rate of less than 11g/dL. RESULTS: At the end of this study, children recovered from chronic malnutrition, and a significant increase (p <5%) of the hemoglobin rates, independently of iron concentration, from 11.4&plusmn;0.9g/dL to 12.2&plusmn;0.8g/dL, was observed in all individuals. The formerly anemic children who received cassava flour fortified with 2mg of Fe/day were fully recovered at the end of the research, demonstrating a good performance of this group in relation to the others. CONCLUSION: A double-blind study is suggested for the consolidation of the recommendation of cassava flour fortified with iron in the prevention of iron deficiency anemia in pre-scholars of the Amazon region