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.     

A new genus and species of rattail fish (Macrouridae) from the eastern North Atlantic and eastern Indian Ocean, with notes on its ecology

A new genus, Macrosmia , and species ( M. phalacra ) of benthopelagic macrourid fish is described from single male specimens caught in 1650–1699 m soundings in the northeastern Atlantic and south-eastern Indian Oceans. This elongate macrourine rattail, with 7 branchiostegal and 11–12 pelvic rays, is unique in its massive olfactory organ, the cavity of which almost equals the diameter of the orbit. This cavity is a reverse D-shape, with the posterior margin deforming the orbital rim into a D-shape. Macrosmia has a short deep snout, lacks prominent ridges on the head, has anteriorly placed plevic fins and a weakly serrated second spinuous ray in the first dorsal fin. The anus is contiguous with the anal fin. These characters, among others, show affinity with the Cetonurus group of genera. The distribution and diet of the species is briefly discussed and M. phalacra is shown to be at least partly dependent on benthic food which, from one example, is of crustacean origin.     

The relationship between the dynamics of cardiorespiratory variables and rowing ergometer performance

The relationship between the dynamics of cardiorespiratory parameters of elite rowers determined in ergospirometer testing and their performance in 2000- and 6000-m Concept II rowing ergometer contests was analyzed. The analysis showed a strong correlation between sports results and physiological parameters, such as the maximal oxygen consumption in absolute units, oxygen consumption at the aerobic threshold and respiratory compensation point, fat-free body mass, maximum attainable power of performance, and powers at the aerobic threshold and respiratory compensation point, despite the substantial period of time between the contests and the functional ergospirometer tests.     

The use of the indirect hemagglutination reaction for the serodiagnosis of HIV infection

An assay system, based on the passive hemagglutination test and permitting the serodiagnosis of HIV infection with correct results in more than 99% of cases, has been developed. Three kinds of freeze-dried erythrocyte diagnostica (with shelf life exceeding 6 months), possessing high serological activity and sensitized with recombinant gene-engineering polypeptides, have been obtained. The proposed assay system is highly promising for mass examination of sera for the presence of antibodies to HIV due to the simplicity of assay techniques, the possibility of storing the diagnostica within a wide range of temperatures (4 degrees-30 degrees C) and obtaining results in a short time (3 hours).