The eleventh reported case of Mulvihill-Smith syndrome in the literature

Background

The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.

Case presentation

This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.

Conclusions

Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.     

Generation of “LYmph Node Derived Antibody Libraries” (LYNDAL) for selecting fully human antibody fragments with therapeutic potential

The development of efficient strategies for generating fully human monoclonal antibodies with unique functional properties that are exploitable for tailored therapeutic interventions remains a major challenge in the antibody technology field. Here, we present a methodology for recovering such antibodies from antigen-encountered human B cell repertoires. As the source for variable antibody genes, we cloned immunoglobulin G (IgG)-derived B cell repertoires from lymph nodes of 20 individuals undergoing surgery for head and neck cancer. Sequence analysis of unselected “LYmph Node Derived Antibody Libraries” (LYNDAL) revealed a naturally occurring distribution pattern of rearranged antibody sequences, representing all known variable gene families and most functional germline sequences. To demonstrate the feasibility for selecting antibodies with therapeutic potential from these repertoires, seven LYNDAL from donors with high serum titers against herpes simplex virus (HSV) were panned on recombinant glycoprotein B of HSV-1. Screening for specific binders delivered 34 single-chain variable fragments (scFvs) with unique sequences. Sequence analysis revealed extensive somatic hypermutation of enriched clones as a result of affinity maturation. Binding of scFvs to common glycoprotein B variants from HSV-1 and HSV-2 strains was highly specific, and the majority of analyzed antibody fragments bound to the target antigen with nanomolar affinity. From eight scFvs with HSV-neutralizing capacity in vitro, the most potent antibody neutralized 50% HSV-2 at 4.5 nM as a dimeric (scFv)₂. We anticipate our approach to be useful for recovering fully human antibodies with therapeutic potential.     

Patterns of MADS-box gene expression mark flower-type development in Gerbera hybrida (Asteraceae)

Background  

The inflorescence of the cut-flower crop Gerbera hybrida (Asteraceae) consists of two principal flower types, ray and disc, which form a tightly packed head, or capitulum. Despite great interest in plant morphological evolution and the tractability of the gerbera system, very little is known regarding genetic mechanisms involved in flower type specification. Here, we provide comparative staging of ray and disc flower development and microarray screening for differentially expressed genes, accomplished via microdissection of hundreds of coordinately developing flower primordia.     

Neonate orientation towards human voice differs with type of feeding

Within the first day after birth, infants develop the tendency to respond to human voices with enhanced asymmetrical mouthing. Breast-fed infants generally mouthed in the same direction as the voice while bottle-fed infants usually mouthed towards the left, wherever the voice came from. In both groups, this response thus reflects the orientation of anticipatory mouthing in the feeding situation.     

The effect of minority status and social context on the development of depression and anxiety: a longitudinal study of Puerto Rican descent youth

Few longitudinal studies have explored to date whether minority status in disadvantaged neighborhoods conveys risk for negative mental health outcomes, and the mechanisms possibly leading to such risk. We investigated how minority status influences four developmental mental health outcomes in an ethnically homogeneous sample of Puerto Rican youth. We tested models of risk for major depressive disorder (MDD) and generalized anxiety disorder (GAD), depressive and anxiety symptoms (DAS), and psychological distress, as Puerto Rican youth (aged 5‐13 years) transitioned to early adulthood (15‐29 years) in two sites, one where they grew up as a majority (the island of Puerto Rico), and another where they were part of a minority group (South Bronx, New York). At baseline, a stratified sample of 2,491 Puerto Rican youth participated from the two sites. After baseline assessment (Wave 1), each youth participant and one caregiver were assessed annually for two years, for a total of three time points (Waves 1‐3). From April 2013 to August 2017, participants were contacted for a Wave 4 interview, and a total of 2,004 young people aged 15 to 29 years participated in the assessment (response rate adjusted for eligibility = 82.8%). Using a quasi‐experimental design, we assessed impacts of minority status on MDD, GAD, DAS and psychological distress. Via mediation analyses, we explored potential mechanisms underlying the observed relationships. Data from 1,863 Puerto Rican youth (after exclusion of those with MDD or GAD during Waves 1‐3) indicated links between minority status and higher rates of lifetime and past‐year GAD, DAS and past 30‐day psychological distress at Wave 4, and a marginal trend for MDD, even after adjustments. Childhood social support and peer relationships partially explained the differences, as did intercultural conflict, neighborhood discrimination, and unfair treatment in young adulthood. The experience of growing up as a minority, as defined by context, seemingly elevates psychiatric risks, with differences in social relationships and increased social stress as mediators of this relationship. Our findings suggest that interventions at the neighborhood context rather than at the individual level might be important levers to reduce risks for the development of mood disorders in minority youth.     

Ecophysiological analysis reveals distinct environmental preferences in closely related Baltic Sea picocyanobacteria

Cluster 5 picocyanobacteria significantly contribute to primary productivity in aquatic ecosystems. Estuarine populations are highly diverse and consist of many co-occurring strains, but their physiology remains largely understudied. In this study, we characterized 17 novel estuarine picocyanobacterial strains. Phylogenetic analysis of the 16S rRNA and pigment genes (cpcB and cpeBA) uncovered multiple estuarine and freshwater-related clusters and pigment types. Assays with five representative strains (three phycocyanin rich and two phycoerythrin rich) under temperature (10–30°C), light (10–190 μmol photons m⁻² s⁻¹), and salinity (2–14 PSU) gradients revealed distinct growth optima and tolerance, indicating that genetic variability was accompanied by physiological diversity. Adaptability to environmental conditions was associated with differential pigment content and photosynthetic performance. Amplicon sequence variants at a coastal and an offshore station linked population dynamics with phylogenetic clusters, supporting that strains isolated in this study represent key ecotypes within the Baltic Sea picocyanobacterial community. The functional diversity found within strains with the same pigment type suggests that understanding estuarine picocyanobacterial ecology requires analysis beyond the phycocyanin and phycoerythrin divide. This new knowledge of the environmental preferences in estuarine picocyanobacteria is important for understanding and evaluating productivity in current and future ecosystems.