Rationale:Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.Patient concerns:A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period.Diagnoses:The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.Interventions:The patient was administrated low-dose levodopa.Outcomes:The treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years.Lessons:Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance for the subsequent treatment.

Tubular epithelial-myofibroblast transition (TEMT) is an important process in renal tubulointerstitial fibrosis. Interleukin-1α (IL-1α) and transforming growth factor-β1 (TGF-β1) have been demonstrated to be key inducers of TEMT. In mouse embryonic fibroblast cells (NIH3T3), P311 protein induces phenotypic changes that are consistent to myofibroblast transformation. In the present study, we investigated the role of P311 gene and protein as well as potential mechanisms underlying TEMT in normal rat kidney tubular epithelial cells (NRK52E). Morphological and molecular changes were determined in NRK52E cells that were treated with IL-1α and/or P311 antibodies. The results showed that the NRK52E cells triggered by IL-1α became fibroblast-like cells, exhibiting hypertrophy of elongated and fusiform-shaped cells. IL-1α induced a time-dependent increase in P311 gene expression in NRK52E cells, with a peak time at 4 days. The expression levels of P311 gene were positively correlated with α-SMA and TGF-β1 gene expression levels. Anti-P311 antibody inhibited P311 and α-SMA expression in the presence of IL-1α. In contrast, anti-P311 antibody increased the expression of TGF-β1 gene in cells cultured with IL-1α. Therefore, P311 gene, together with α-SMA and TGF-β1 genes, was induced in the process of TEMT. P311 protein triggered by interleukin-1α may promote TEMT through a TGF-β1-independent pathway.

Abstract. Current treatment modalities for melanoma do not offer satisfactory efficacy. We have developed a new, minimally invasive hyperthermia technology based on radio-frequency hyperthermia. Herein, we investigated the feasibility of using a nickel-copper thermoseed for inductive hyperthermia at a relatively high temperature (46-55˚C). In vitro, the thermoseed showed good thermal effects and effective killing of B16/F10 melanoma cells. Temperatures of 53.1±0.5˚C were achieved for a single thermoseed and 56.5±0.5˚C for two in parallel (spacing 5 mm). No B16/F10 melanoma cells survived with heating time longer than 20 min in the parallel thermoseed group. Magnetic fields or thermoseeds alone did not affect the survival rate of B16/F10 cells (P>0.05). In vivo, B16/F10 melanoma cells were subcutaneously injected into the right axilla of C57BL/6 mice. After the tumors grew to ~11-13 mm, two thermoseeds (spacing 5 mm) were implanted into the tumors and the mice were subjected to an alternating magnetic field (100-250 kHz, 15 kA/m) to induce hyperthermia. The temperature at the center of the tumor reached 46˚C at 5 min and plateaued at 50˚C. Thermoseed treatment produced large necrotic areas, inhibited tumor growth in 60% (6 of 10) of animals and prolonged survival time (P<0.05). Thus, with further optimization and testing, high-temperature thermoseed inductive hyperthermia may have therapeutic potential for melanoma.

We evaluated the efficacy and safety of stir-fried white pepper in the treatment of infant and children diarrhea. This was a randomized trial conducted in the pediatric emergency department of the hospital affiliated to Jining Medical College. One hundred seventy four patients were selected from outpatients from 2011 to 2012. Participants were randomly assigned to treatment with stir-fried white pepper (n = 88) or montmorillonite powder (n = 86). The proportions of chronic diarrhea patients (n = 52) showing success of treatment were similar for both groups. There were great differences between the two groups in acute diarrhea (n = 62) and persistent diarrhea (n = 60), and the cure rate of stir-fried white pepper was higher than montmorillonite powder in both groups. The prescription of stir-fried white pepper significantly decreased the frequency of diarrhea in infants and children under 2.5 years with diarrhea compared to treatment with montmorillonite powder, especially for the patients with acute diarrhea or persistent diarrhea.