Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.

Non-syndromic Hirschsprung's disease as a result of a RET gene variant.

Introduction: Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene.

Case Reports: We present the case of two siblings with total colon HD where a potentially pathogenic variant of the RET gene was found.

Cervical Spondylotic Myelopathy: From the World Federation of Neurosurgical Societies (WFNS) to the Italian Neurosurgical Society (SINch) Recommendations.

Cervical spondylotic myelopathy (CSM) is a progressively growing pathology to afford by a spinal surgeon due to the aging of the population, associated with better treatment management and the best diagnosis and treatment solutions are greatly discussed. Nowadays that scientific literature is progressively increasing to identify the gold standard in diagnosis and treatment can be very challenging. This is particularly evident in spinal surgery with many different indications not only in different countries but also in the same local reality.

Key role of PIN1 in telomere maintenance and oncogenic behavior in a human glioblastoma model.

PIN1 is the only known enzyme capable of recognizing and isomerizing the phosphorylated Serine/Threonine‑Proline motif. Through this mechanism, PIN1 controls diverse cellular functions, including telomere maintenance. Both PIN1 overexpression and its involvement in oncogenic pathways are involved in several cancer types, including glioblastoma (GBM), a lethal disease with poor therapeutic resources.

[Late diagnosis of spinal muscular atrophy in a patient with Down syndrome].

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome.