Adaptive analysis of cortical plasticity with fMRI in full face and arm transplants

The aim of this study is to examine cortical plasticity and to analyze cortical reorganization following hand and facial transplantation, using functional magnetic resonance imaging. Patients who had undergone full-face transplantation, hand transplantation and scapular arm replantation, as well as healthy controls, participated in the study. The perioral area and volar surfaces of the index finger and thumb were stimulated and images were acquired using 3 T functional MRI. The areas of the somatosensory cortex representing the hand and face are different in size and shape due to experience-dependent plasticity. Therefore, a new and more adaptive volume of interest analysis was created whereby the radiuses of the VOI masks were defined by the peak intensity of subsequent clusters. For each control subject, the distribution of activated voxels was observed for various cluster defining thresholds in order to determine the mean number of activated voxels for each stimulation inside the defined region. The determined numbers of voxels per subject were extracted from the defined regions using a binary search algorithm. Subsequently, the distances between the weighted centers of the extracted regions were calculated and compared. In transplant patients, the weighted centers of the hand and face clusters were separated at same-sized volumes. Two of the rehabilitated full-face transplant patients converge to the range of the controls. As a result, the weighted distribution of somatotopy indicated previous and present cortical reorganization. Additionally, referred sensation was assessed in two full-face transplant and one replant patient with activation clusters partially in BA40 in the Inferior Parietal Lobule.

     

Genetic causes of moderate to severe hearing loss point to modifiers

The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families. Variants of the known deafness genes were found in 69% of the participating families with the SLC26A4, GJB2, MYO15A, TMC1, TMPRSS3, OTOF, MYO7A and CLDN14 genes together accounting for hearing loss in 54% of the families. We identified 20 reported and 21 novel variants in 21 known deafness genes; 16 of the 20 reported variants, previously associated with stable, profound deafness were associated with moderate to severe or progressive hearing loss in our families. These data point to a prominent role for genetic background, environmental factors or both as modifiers of human hearing loss severity.     

Postmenopausal frontal fibrosing alopecia

Recently a new entity, postmenopausal frontal fibrosing alopecia, was added to the established subtypes of scarring alopecias affecting postmenopausal women. This condition is characterized by a progressive frontal hairline recession associated with scarring. We studied the clinical and histopathologic features in four women with this disorder. Of note, a history of bilateral oophorectomy in two of them appears to be a new association. All four cases had frontoparietal recession of the hairline and two of them also had loss of their eyebrows. None of our four patients had any mucous membrane or other skin lesions. Histological examination showed perifollicular fibrosis and lymphocytic inflammation around the isthmus and infundibular areas of the follicles. No effective treatments have emerged for this type of postmenopausal alopecia, but progression of the hair loss and scarring appears to be self-limiting. We believe that this condition is a distinct clinicopathological variant of lichen planopilaris.     

Thiomers and their potential applications in drug delivery

Introduction: Thiomers are the product of the immobilization of sulfhydryl-bearing ligands onto the polymer backbone of a conventional polymer, which results in a significant improvement in mucoadhesion; in situ gelation and efflux inhibition compare with unchanged polymers. Because of thiol groups, thiomers have more reactivity and enhanced protection against oxidation. Since the late 1990s, extensive work has been conducted on these promising polymeric excipients in the pharmaceutical field.

Areas covered: This review covers thiomers, their classification and their different properties. Various techniques for the synthesis, purification and characterization of thiomers are described in detail. This review also encompasses their various properties such as mucoadhesion, permeation enhancement, in situ gelation and efflux inhibition, as well as different formulations based on thiomers. In addition to the use of thiomers as multifunctional excipients, this review also encompasses their use as drugs.

Expert opinion: The synthesis is realized by linkage of sulfhydryl-bearing ligands but reported methods give low yields. Higher degrees of modification are not necessary and would probably lead to extreme changes in properties. Nevertheless, an accurate characterization of the final product is important. The scale-up procedure for industrial manufacturing has been adapted to produce GMP materials; Lacrimera® eye drops have already entered the European market.     

Dysembryoplastic neuroepithelial tumors and gangliogliomas: clinical results of 52 patients

Purpose  

Dysembryoplastic neuroepithelial tumors (DNET) and gangliogliomas (GG) are generally associated with epilepsy in young patients. Presurgical work-up and postsurgical results vary from center to center. Seizures are commonly focal with secondary generalization, and surgical treatment is often effective.     

Melatonin modulates wireless (2.45 GHz)-induced oxidative injury through TRPM2 and voltage gated Ca(2+) channels in brain and dorsal root ganglion in rat

We aimed to investigate the protective effects of melatonin and 2.45 GHz electromagnetic radiation (EMR) on brain and dorsal root ganglion (DRG) neuron antioxidant redox system, Ca(2+) influx, cell viability and electroencephalography (EEG) records in the rat. Thirty two rats were equally divided into four different groups namely group A1: Cage control, group A2: Sham control, group B: 2.45 GHz EMR, group C: 2.45 GHz EMR+melatonin. Groups B and C were exposed to 2.45 GHz EMR during 60 min/day for 30 days. End of the experiments, EEG records and the brain cortex and DRG samples were taken. Lipid peroxidation (LP), cell viability and cytosolic Ca(2+) values in DRG neurons were higher in group B than in groups A1 and A2 although their concentrations were increased by melatonin, 2-aminoethyldiphenyl borinate (2-APB), diltiazem and verapamil supplementation. Spike numbers of EEG records in group C were lower than in group B. Brain cortex vitamin E concentration was higher in group C than in group B. In conclusion, Melatonin supplementation in DRG neurons and brain seems to have protective effects on the 2.45 GHz-induced increase Ca(2+) influx, EEG records and cell viability of the hormone through TRPM2 and voltage gated Ca(2+) channels.     

Caffey's disease in an infant

Caffey's disease is a self limited disorder of infantile age group. It is synonymous with 'infantile cortical hyperostosis' and 'Caffey's-Silver syndrome'.It is characterized by fever, irritability, bone pain and characteristic bony changes. It has no definite etiology. This report describes a 4 months old infant presenting with fever, irritability and soft tissue swellings. Investigations led to the diagnosis of Caffey's disease. Symptomatic treatment was given to good clinical response.     

Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families

The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.