Charcot-Marie-Tooth Disease: Seventeen Causative Genes

Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they have an X-linked inheritance pattern and CMT4 if the inheritance pattern is autosomal recessive. A large amount of new information on the genetic causes of CMT has become available, and mutations causing it have been associated with more than 17 different genes and 25 chromosomal loci. Advances in our understanding of the molecular basis of CMT have revealed an enormous diversity in genetic mechanisms, despite a clinical entity that is relatively uniform in presentation. In addition, recent encouraging studies - shown in CMT1A animal models - concerning the therapeutic effects of certain chemicals have been published; these suggest potential therapies for the most common form of CMT, CMT1A. This review focuses on the inherited motor and sensory neuropathy subgroup for which there has been an explosion of new molecular genetic information over the past decade

Observations on the inconsistency of dermatome maps and its effect on knowledge and confidence in clinical students.

Dermatomes are an important component of medical curricula and clinical practice. In addition to the intrinsic complexity of dermatome maps, their discrepancies in the literature make their learning among students even more difficult. These discrepancies are particularly evident in the lower deltoid ("regimental badge" area) and upper back. The aims of our study were firstly to identify and compare published versions of the dermatome map focusing on depictions of the "regimental badge" area and upper back, secondly to assess the perceived confidence and knowledge of dermatomes among medical students, and finally to create and introduce a simplified dermatome map. For the first part of the study, depictions of dermatome maps that included the "regimental badge" area and upper back in webpages and books were compared. For the second part, a dermatome exercise was given to 177 medical students who were asked to draw and label the dermatomes on blank figures. A total of 45 sources depicting dermatomes of the "regimental badge" area and upper back were included in the study and showed significant discrepancies in both areas. In the dermatome exercise, the mean perceived confidence was 3.64 ± 1.58 (scale 1-10). Based on our pre-set assessment criteria, upper limb, lower limb, nipple, umbilicus, and perineum dermatomes were labeled correctly by 57.1%, 43.5%, 52.6%, 60%, and 75.7% students, respectively. In light of our results, we propose a map of autonomous regions of clinically relevant dermatomes that can be used instead of whole dermatome maps for teaching purposes. Clin. Anat. 31:293-300, 2018. © 2017 Wiley Periodicals, Inc

Medical Men in Parliament : Sir Wilmot Herringham's Candidature.

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