Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals harbored a rare heterozygous variant in ZBTB7A which encodes the transcription factor Zinc finger and BTB-domain containing protein 7A, known to play a role in lympho- and hematopoiesis. ID was generally mild.

[Mad pride and metaphors for dissidence: a linguistic and symbolic analysis].

This paper presents a linguistic and interpretative analysis of the use of conceptual metaphors in the field of mental health, taking as a field of observation the use of Twitter in the first edition of Mad Pride Day in Spain, held on May 20, 2018. The objective is to give a first-person account of the attitudes expressed by activists. The results show a questioning of the coercive logics produced by psychiatric care, a problematization of the hegemonic model as a whole, a criticism of the oppression implied by stigma, communication problems with professionals in the field of mental health, as well as demands for greater dialogue with them.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and lymphoid cancers.

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2 to 3 SD above the mean for age and sex. Additional features, such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. Genetic analysis in patients with overlapping clinical features is essential, to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up.

Underwater acoustic wireless sensor networks: advances and future trends in physical, MAC and routing layers.

This survey aims to provide a comprehensive overview of the current research on underwater wireless sensor networks, focusing on the lower layers of the communication stack, and envisions future trends and challenges. It analyzes the current state-of-the-art on the physical, medium access control and routing layers. It summarizes their security threads and surveys the currently proposed studies.