Effects of dance-based movement therapy on balance, gait, and psychological functions in severe cerebellar ataxia: A case study.

Purpose: Individuals in the later stages of cerebellar ataxia usually experience serious balance and immobility problems. Currently, there is a lack of adequate rehabilitative programs for individuals with severe cerebellar ataxia that can help improve ataxia-related motor impairment. The purpose of the present study was to explore the potential physiotherapeutic benefits of partnered dance on balance, motor functions, and psychological well-being in an individual demonstrating severe cerebellar ataxia symptoms. Methods: The individual was a 39-year-old male diagnosed with cerebellar atrophy. He had the disease for more than 15 years prior to the study. The individual attended 24 intervention sessions over an 8-week period of dance-based movement training that aimed to improve his balance and postural stability by facilitating the perception and control of static and dynamic balance movements and body alignment. Results: The individual demonstrated improvements in independent standing balance, gait characteristics, and functional mobility. In addition, improvements in self-reported depression and quality of life scores were observed after completion of the intervention. Conclusion: Although interpreting the findings of this study is limited to a single participant, partnered dance could be a suitable alternative physiotherapeutic intervention method for people with severely impaired mobility due to cerebellar dysfunction.

The corrected QT (QTc) prolongation in hyperthyroidism and the association of thyroid hormone with the QTc interval.

PURPOSE: Ventricular repolarization is assessed using the QT interval corrected by the heart rate (QTc) via an electrocardiogram (ECG). Prolonged QTc is associated with an increased risk of arrhythmias and cardiac mortality. As there have been few reports regarding the effects of hyperthyroidism on ventricular repolarization, we studied the association between serum free thyroxine (free T4 [fT4]) and thyroid stimulating hormone (TSH) levels and the QTc interval. METHODS: Thirty-eight patients with hyperthyroidism (<30 years old) were included, and we used their clinical records and available ECGs (between August 2003 and August 2011) to evaluate the association between their fT4 and TSH levels and their QTc interval. In addition, we studied the ECGs of 72 age-matched patients with no hyperthyroidism (control group) and compared their data with that from the patients group. RESULTS: The QTc duration in patients with hyperthyroidism was significantly prolonged compared to that in the control subjects (P<0.001). In addition, the number of hyperthyroid patients with abnormal prolonged QTc was significantly higher than that in the control group (P<0.001). Among the patients with hyperthyroidism, patients with prolonged QTc and borderline QTc had higher fT4 levels and there was positive correlation between their fT4 levels and their QTc interval (P<0.05). However, no correlation was observed between their TSH levels and their QTc interval. CONCLUSION: We report that hyperthyroidism is associated with QTc prolongation. The correlation between the fT4 levels and the QTc interval suggests that thyroid status is associated with QTc values and the risk of cardiac mortality.

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213(*)). To our knowledge, this is a novel mutation in GNAS.

[The proportional mortality ratios of specific-cause mortality by occupation and education among men aged 20-64 in Korea (1993-2004)].

OBJECTIVES: This study investigated the relationship of occupational class and educational background with proportional mortality ratios in Korea. METHODS: Mortality was investigated using the entire registered death data from 1993 to 2004, obtained from the Korean National Statistics Office. Proportional mortality ratios (PMRs) for specific diseases were calculated according to the occupational class and educational background of men aged 20-64. RESULTS: Manual workers were found to have higher PMRs for liver disease and traffic accidents, as did the lower educated group. Especially, this study showed trends of an increasing of the wide gap between lower and higher socioeconomic stati for liver disease, traffic accidents, diabetes mellitus and cerebral vascular disease. The mortality for cerebrovascular disease, diabetes mellitus, heart disease, traffic accident and liver disease showed increasing trends according to the calendar year for the lower than the higher social class. CONCLUSIONS: The specific conditions that had higher PMRs in the Korean lower social class were liver disease and traffic accidents. Especially, there was an increasing trend for a widening of the gap between manual and non-manual groups in relation to mortality from liver disease, diabetes mellitus and traffic accidents.