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Background: The current treatment therapies for chyluria are often invasive and recurrent. Here, we investigated a novel noninvasive treatment of chyluria with high-intensity focused ultrasound (HIFU) and evaluated its clinical efficacy.Methods: 155 patients with chyluria were treated with HIFU ablation and followed up over a period of 15 years from May 2000 to December 2015. Routine examinations including urine color observation, color Doppler ultrasound examination, blood serum test of Cr, BUN, and albumin, and detection of urinary chyle were performed before and after the treatment, 1 week, 1 and 6 months post-treatment, and followed up via telephone and other forms. We lost contact with 54 patients during the course of the study.Results: In the 101 complete cases, the serum levels of Cr and BUN and the color Doppler ultrasound examination did not reveal significant differences before and after the treatment. However, there was a significant increase in the hemoglobin and albumin levels, as well as the body weight after the HIFU treatment. The other 54 patients also showed an improvement of the symptoms after the HIFU treatment before losing contact.Conclusions: Our results suggest that the HIFU ablation therapy is a feasible, effective, and noninvasive method for the treatment of chyluria. [ABSTRACT FROM AUTHOR]

Even though mutations in LMNA have been reported in patients with typical dilated cardiomyopathy (DCM) and atrioventricular block (AVB) previously, the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval. Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2, where the LMNA gene was located. Direct DNA sequence analysis revealed a heterozygous G to A transition at nucleotide 244 in exon 1 of LMNA, which resulted in an E82K mutation. The E82K mutation co-segregated with all affected individuals in the family, and was not present in 200 normal controls. Further clinical evaluation of mutation carriers showed that 5 of 6 AVB patients exhibited mild DCM with a late onset of age in the fourth and fifth decades. Ejection fractions were documented in 5 patients with DCM, but 4 showed a normal value of ⩾50%. Echocardiography showed that atrial dilatation occurred earlier than ventricular dilatation in the patients. This study suggests that progressive AVB with normal QRS interval and accompanying DCM at later stages may represent a distinct type of DCM. The molecular mechanism by which the E82K mutation causes AVB as the prominent phenotype in DCM may be a focus of future studies. [ABSTRACT FROM AUTHOR]

Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel a-subunit geneCACNA1Sis a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified inCACNA1Sto date. In this study, we studied a four-generation Chinese family with HypoPP with 43 living members and 19 affected individuals. Linkage analysis showed that the causative mutation in the family is linked to theCACNA1Sgene with a LOD score of 6.7. DNA sequence analysis revealed a heterozygous C to G transition at nucleotide 1,582, resulting in a novel 1,582C?G (Arg528Gly) mutation. The Arg528Gly mutation co-segregated with all affected individuals in the family, and was not present in 200 matched normal controls. The penetrance of the Arg528Gly mutation was complete in male mutation carriers, however, a reduced penetrance of 83% (10/12) was observed in female carriers. No differences were detected for age-at-onset and severity of the disease (frequency of symptomatic attacks per year) between male and female patients. Oral intake of KCl is effective in blocking the symptomatic attacks. This study identifies a novel Arg528Gly mutation in theCACNA1Sgene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease. [ABSTRACT FROM AUTHOR]