Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.

Identifying core competency areas to assess communication skills among interns at a tertiary teaching hospital in southern India.

BACKGROUND.: We aimed to develop a teaching-learning and evaluation programme on communication skills for interns. Core competency areas for focused communication skills training and assessment were identified to achieve the obective. We then assessed the identified competencies among interns using objective structured clinical examination (OSCE), before the start of internship. METHODS.: Five core areas for focused training and evaluation were identified on the basis of responses of practising physicians in local settings. OSCE stations were developed for evaluation based on the identified competency areas. A pre-test OSCE was administered to 30 interns. RESULTS.: Five core areas selected for training and evaluation were: (i) communicating with a parent resistant to immunization; (ii) interacting with a patient who has psychosomatic complaints; (iii) explaining risks and procedures; (iv) breaking bad news; and (v) communicating with patients and bystanders in a casualty setting. Thirty of 160 interns were selected to participate in the OSCE before the training (pre-test). The lowest score was for breaking bad news. Scores indicated that explaining risks and procedures, communicating in a busy casualty setting and dealing with psychosomatic complaints were areas that required extensive training and practice. CONCLUSIONS.: We were able to identify core competency areas for focused training and evaluation of communication skills suited to the local context and used OSCE to evaluate the skills before the start of internship.

Current practice in the management of tetanus.

Tetanus is still a scourge among the under-privileged populations of the world, and unfortunately remains an important cause of death although a cheap, safe and highly efficacious vaccine is available. The rarity of the disease in some parts of the world results in newly trained physicians being unable to make a clinical diagnosis, and hampers the conduct of adequately powered randomized controlled trials. Several new and experimental pharmacological agents are being used to control the spasms in tetanus, and to combat the autonomic instability that occurs in the disease. New evidence is emerging regarding the use of antibiotics and intrathecal immunoglobulin in tetanus. It is imperative, therefore, that all physicians working in critical care should be aware of the current advances and evidence-based guidelines for management of tetanus in order to achieve the best outcomes, which Rodrigo and colleagues have reviewed in a recent issue of Critical Care.