Sensory deafness is a disorder with a broad spectrum of phenotypes. It is associated with genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnosis. Mutations in the gene encoding Protocadherin 15 (PCDH15) are known to cause non-syndromic deafness (DFNB23) or either dual sensory impairments of deafness and blindness (Usher Syndrome type 1F; USH1F). PCDH15 gene also contributes to neuronal development and function, therefore the PCDH15 gene is a promising candidate risk gene for neuropsychiatric symptoms. PCDH15 gene mutations have been described in patients with schizophrenia, autism, and severe intellectual disability. We reported a case of sensory deafness in a 10-years-old girl with presented with walking and developmental delay, and bilateral sensorineural deafness. NGS syndromic and non-syndromic deafness gene panel showed a variant c.5414C>T in the PCDH15 gene, which appears to be pathogenic.

In chronic stroke, transcranial magnetic stimulation is used to investigate if the primary motor cortex (M1) of the unlesioned hemisphere (UH) optimizes or hampers the functional gains. Continuous and intermittent theta-burst stimulation (cTBS, iTBS) were used to decrease and increase UH-M1 excitability, respectively. However, the effects of these protocols were never compared in the same patients and studies remain controversial. Therefore, the present study first compared the two protocols in the same patient, a 60-yo male at a chronic stage post-stroke, then tested in the long-term the protocol with the largest after-effects. To this end, experiment 1 compared the after-effects of iTBS, cTBS, and sham over UH-M1 (one session each, one week apart): data showed that the paretic hand motricity and M1 excitability of the lesioned hemisphere (LH) were improved after cTBS only. cTBS was then administrated over 10 sessions in experiment 2 and the outcomes were tested at different timepoints: M1 excitability was improved in both hemispheres and the functional gains obtained during cTBS sessions were still present three months after the end of stimulation. In conclusion, our chronic case study showed that UH inhibition, and not activation, promoted the function in a patient with spared corticospinal control from LH. Group studies in chronic stroke should reproduce our experiments and determine if, to optimize the gains, UH should be inhibited in patients with spared LH function (our case) or activated in patients with lost LH function, as already hypothesized. This is of major interest in neurorehabilitation using TMS protocols.

Chronic kidney disease causes a myriad of changes in the normal physiology of the body. Inflammation, atherosclerosis, vascular calcification, the effect of uremic toxins, cerebral blood flow dysautoregulation, dialysis techniques, vascular access, prothrombotic tendency, and anticoagulation are just some of the changes which form a part of the cascade. Stroke is intimately associated with this disease process and it is difficult to manage both simultaneously. In this review, we have narrated to outline the pathophysiological cascade behind each of the two disease processes that how they interact with each other. In this review we have focused on possible therapeutic options exist to manage both with special emphasis on antiplatelets, miRNA, and pre and probiotics. This review exist all the possible pathological pathways and therapeutic targets in such dual cascade that will be very useful for the clinicians while dealing in this complex interplay.