EFFECTS OF SIX WEEKS OF TRAINING ON INTERSEGMENTAL COORDINATION IN THE ROWING STROKE OF NOVICE INTERCOLLEGIATE ROWERS

The purpose of the study was to examine changes in coordination during the rowing stroke after 1 and 6 weeks of practice. Initially 11 healthy, females who had elected to join a college rowing program volunteered to participate in both testing sessions: Only 3 participants were still on the novice team at wk 6, thus N=3. Participants were video taped on a land ergometer in 2D using the Peak Motion Measurement System. SPC was assessed between adjacent 2-segment combinations of the T-S (trunk-shoulder), K-T (knee-trunk), and S-E (shoulder-elbow) to quantify intersegmental coordination. Mean changes in T-S (78.7% v 74.6 %), K-T (66.5% v 102.9%) and S-E (88.2% v 71.3%) showed that the rowing stroke is primarily a simultaneous pattern. However. individual SPC (shared positive contribution) changes varied indicating that 6 wks is not a long enough for coordination to develop in novice rowers

Skunk River Fall 1998

https://openspace.dmacc.edu/skunkriver/1019/thumbnail.jp

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

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

Lischka A, Eggermann K, Record CJ, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain. 2023;146(12):4880-4890.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