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Background: Since its localization to the NKX2‐1 gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea. Methods: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2‐1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years. Results: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2‐1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies. Conclusions: The phenotype associated with pathogenic variants in NKX2‐1 frequently includes disabling and often medically refractory neurological and non‐neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2‐1–related disorder. View Supplementary Video 1 View Supplementary Video 2 View Supplementary Video 3 View Supplementary Video 4 View Supplementary Video 5 [ABSTRACT FROM AUTHOR]

Background: Body weight and its perception play an important role in the physical and mental well-being of a person. Weight perception is found to be a better predictor of weight management behaviour as compared to actual weight. In Pakistan, studies have been done on the prevalence of weight status but weight perception is still unexplored. The study was done to examine relationships between body weight perception, actual weight status, and weight control behaviour among the female university students of Karachi. Methods: A cross sectional study was carried out during Sep-Nov 2009 on female students in four universities of Karachi, Pakistan. Our final sample size included 338 female university students. Height and weight were measured on calibrated scales. A modified BMI criterion for Asian populations was used. Results: Based on measured BMI; the prevalence of underweight, normal weight and overweight females was 27.2%, 51.5% and 21.3% respectively. As a whole, just over one third (33.73%) of the sample misclassified their weight status. Among underweight (n=92), 45.70% thought they were of normal weight. No one who was truly underweight perceived them self as overweight. Among the normal weight (n= 174), 9.8% thought they were underweight and 23.6% considered themselves overweight. Among the overweight (n=72); 18.3% considered themselves normal. Only one female student thought she was underweight despite being truly overweight. Conclusions: Our study shows that among female university students in Karachi, the prevalence of being underweight is comparatively high. There is a significant misperception of weight, with one third of students misclassifying themselves. Underweight females are likely to perceive themselves as normal and be most satisfied with their weight. Health policy makers should implement these findings in future development of health interventions and prevention of depression, social anxiety and eating disorders associated with incorrect weight perception among young females. Studies that employ a longitudinal approach are needed to validate our findings. [ABSTRACT FROM AUTHOR]

Background: Since its localization to the NKX2-1 gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea., Methods: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years., Results: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies., Conclusions: The phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1 -related disorder.