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. Fetal hemoglobin (HbF) fraction was elevated 2.2%-11.2% (reference value <2% in individuals > 6 months) in four of the five individuals for whom results were available. Ten of twelve individuals had undergone surgery at least once for lymphoid hypertrophy limited to the pharynx. In the most severely affected individual (individual 1), airway obstruction resulted in 17 surgical procedures before the age of 13 years. Sleep apnea was present in 8 of 10 individuals. In the nine unrelated individuals, ZBTB7A variants were novel and de novo. The six frameshift/nonsense and four missense variants were spread throughout the gene. This is the first report of a cohort of individuals with this novel syndromic neurodevelopmental disorder.

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. In the present paper, we report five new patients (from four unrelated families) with an X-linked mental retardation syndrome with overgrowth (XMR93 syndrome), also known as XLID-BRWD3-related syndrome. The main features of these patients include ID, macrocephaly and dysmorphic facial features. XMR93 syndrome is a recently described disorder caused by mutations in the Bromodomain and WD-repeat domain-containing protein 3 (BRWD3) gene. This article underscores the importance of genetic screening by exome sequencing for patients with OGS and ID with unclear clinical diagnosis, and expands the number of reported individuals with XMR93 syndrome, highlighting the clinical features of this unusual disease.

A Joining Procedure and Synchronization for TSCH-RPL Wireless Sensor Networks.

Wireless Sensor Networks have become a key enabler for Industrial Internet of Things (IoT) applications; however, to adapt to the derived robust communication requirements, deterministic and scheduled medium access should be used, along with other features, such as channel hopping and frequency diversity. Implementing these mechanisms requires a correct synchronization of all devices in the network, a stage in deployment that can lead to non-operational networks. The present article presents an analysis of such situations and possible solutions, including the common current approaches and recommendations, and proposes a new beacon advertising method based on a specific Trickle Timer for the Medium Access Control (MAC) Time-Slotted Channel Hopping (TSCH) layer, decoupling from the timers in the network and routing layers. With this solution, improvements in connection success, time to join, and energy consumption can be obtained for the widely extended IEEE802.15.4e standard.

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. Current envisioned niches for further advances in underwater networks research range from efficient, low-power algorithms and modulations to intelligent, energy-aware routing and medium access control protocols.

SIVEH: numerical computing simulation of wireless energy-harvesting sensor nodes.

The paper presents a numerical energy harvesting model for sensor nodes, SIVEH (Simulator I-V for EH), based on I-V hardware tracking. I-V tracking is demonstrated to be more accurate than traditional energy modeling techniques when some of the components present different power dissipation at either different operating voltages or drawn currents. SIVEH numerical computing allows fast simulation of long periods of time-days, weeks, months or years-using real solar radiation curves. Moreover, SIVEH modeling has been enhanced with sleep time rate dynamic adjustment, while seeking energy-neutral operation. This paper presents the model description, a functional verification and a critical comparison with the classic energy approach.

A proposal for modeling real hardware, weather and marine conditions for underwater sensor networks.

Network simulators are useful for researching protocol performance, appraising new hardware capabilities and evaluating real application scenarios. However, these tasks can only be achieved when using accurate models and real parameters that enable the extraction of trustworthy results and conclusions. This paper presents an underwater wireless sensor network ecosystem for the ns-3 simulator. This ecosystem is composed of a new energy-harvesting model and a low-cost, low-power underwater wake-up modem model that, alongside existing models, enables the performance of accurate simulations by providing real weather and marine conditions from the location where the real application is to be deployed.

Underwater sensor networks: a new energy efficient and robust architecture.

The specific characteristics of underwater environments introduce new challenges for networking protocols. In this paper, a specialized architecture for underwater sensor networks (UWSNs) is proposed and evaluated. Experiments are conducted in order to analyze the suitability of this protocol for the subaquatic transmission medium. Moreover, different scheduling techniques are applied to the architecture in order to study their performance. In addition, given the harsh conditions of the underwater medium, different retransmission methods are combined with the scheduling techniques. Finally, simulation results illustrate the performance achievements of the proposed protocol in end-to-end delay, packet delivery ratio and energy consumption, showing that this protocol can be very suitable for the underwater medium.

[Mad pride and metaphors for dissidence: a linguistic and symbolic analysis]. / Orgullo loco y metáforas para una disidencia: un análisis lingüístico y simbólico.

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. This analysis has allowed us to understand linguistic modes of resignifying the field of mental health, and also to account for the tensions between subjective perceptions of the people diagnosed and the productions of the hegemonic medical model.

El presente artículo expone un análisis lingüístico e interpretativo sobre el uso de la metáfora conceptual en el campo de la salud mental, tomando como campo de observación el uso de Twitter en la primera edición del Día del Orgullo Loco en España, celebrada el 20 de mayo de 2018. El objetivo es dar cuenta de los posicionamientos expresados por los activistas en primera persona. Los resultados muestran un cuestionamiento a las lógicas coercitivas producidas por la atención psiquiátrica, una problematización del modelo hegemónico en su conjunto, una denuncia a la opresión que implica el estigma, problemas de comunicación y demandas de mayor diálogo con los profesionales del campo de la salud mental. Este análisis nos ha permitido comprender el modo lingüístico de re-semantizar el campo de la salud mental, así como dar cuenta de las tensiones existentes entre las percepciones subjetivas de las personas diagnosticadas y las producciones del modelo médico hegemónico.

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. Germline gain-of-function variants in this gene have been recently implicated in microcephalic dwarfism. Common clinical features of patients with TBRS include tall stature, macrocephaly, intellectual disability (ID), and a distinctive facial appearance. Differential diagnosis of TBRS comprises Sotos, Weaver, and Malan Syndromes. The majority of these disorders present other clinical features with a high clinical overlap, making necessary a molecular confirmation of the clinical diagnosis. We here describe seven new patients with variants in DNMT3A, four of them with neuropsychiatric disorders, including schizophrenia and psychotic behavior. In addition, one of the patients has developed a brain tumor in adulthood. This patient has also cerebral atrophy, aggressive behavior, ID, and abnormal facial features. Clinical evaluation of this group of patients should include a complete neuropsychiatric assessment together with psychological support in order to detect and manage abnormal behaviors such as aggressiveness, impulsivity, and attention deficit-hyperactivity disorder. TBRS should be suspected in patients with overgrowth, ID, tall stature, and macrocephaly, who also have some neuropsychiatric disorders without any genetic defects in the commonest overgrowth disorders. Molecular confirmation in these patients is mandatory.

Horner's syndrome associated with parotid duct obstruction in a sheep.

A 9-year old, Rasa Aragonesa ewe was presented with a left-sided, facial, soft fluctuant swelling. The postmortem examination showed grass awns filling the entire length of the parotid gland duct. The presence of parotid duct obstruction with Horner's syndrome, previously unreported in sheep, is discussed.

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of the syndrome. Here we present a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever. The high-resolution G-banded karyotype was normal. Fluorescence in situ hybridization (FISH) with a set of cosmids from 4p16.3, showed that the deletion in this patient was from the D4S3327 to the telomere, enabling the size of the deletion to be estimated as 1.9 Mb, excluding the accepted WHSCR deletion. This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98-D4S16, and it is called "WHSCR-2" [Zollino et al., 2003].

Changes in number, cell shape and adhesiveness induced by dopamine on chick primordial germ cells.

Dopamine (DA), injected beneath the blastodisc of the chick embryo before the beginning of incubation, induced an approximately 2.5 times increase in the total number of primordial germ cells (PGCs) at the definitive primitive streak stage. It also produced changes in the shape and behaviour of PGCs since more than half of them adhered to one another, forming groups or chains of three or more cells and, in contrast to their characteristic spherical form, most single PGCs displayed a fibroblastic appearance. On the 2nd day of incubation most PGCs remained adherent to each other, which did not hinder them from entering the extra-embryonic blood vessels of the crescent. Ultrastructural analysis showed that PGCs adhered to each other by large areas of cell membrane apposition and specialized adhesive structures, such as tight junctions and desmosomes. PGCs also displayed many lamellipodial and filopodial processes. The effects of DA on PGCs were prevented by either glucose or EDTA. Although it is difficult to account for the effect of glucose, the effect of EDTA suggests that the action of DA may be calcium-dependent.