[Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome].

OBJECTIVE: To explore the method for early diagnosis and pathogenesis of MYH9-related syndrome through analysis of the clinical manifestation and gene mutation of a Chinese family with MYH9-related syndrome. METHODS: Peripheral blood samples were collected from a three-generation Chinese family with MYH9-related syndrome (11 individuals, including 3 patients) and 100 healthy individuals. Polymerase chain reaction (PCR) amplification and direct sequencing of DNA were performed to analyze mutations of MYH9 gene. RESULTS: Thrombocytopenia, increased volume of platelet, and granulocyte inclusion bodies were found in the patients with MYH9-related syndrome via a peripheral blood test. A missense mutation of a base pair (G-A) in exon 30 was revealed by PCR amplification and direct sequencing of MYH9 of the proband. That lead to Asp-Asn substitution at position 1424 (D1424N mutation). The mutation was the same as in other patients with MYH9-related syndrome. It was not found in healthy people from the Chinese family or in the other 100 healthy individuals. CONCLUSIONS: Patients with MYH9-related syndrome show diverse symptoms. Mutation of MYH9 gene may be the molecular mechanism of MYH9-related syndrome, and D1424N mutation of MYH9 has not been reported in Chinese people. Early diagnosis of MYH9-related syndrome can be carried out by investigating family history and making early examinations.

In vitro photothermal study of gold nanoshells functionalized with small targeting peptides to liver cancer cells.

Gold nanoshells functionalized with a small peptide as a targeting agent were designed and synthesized for photothermal therapy of hepatocarcinoma. The nanoshells exhibited high absorption in the near-infrared (NIR) range, 800-1,100 nm, and were functionalized with 12-amino acid sequence peptides for targeting liver cancer cells. The nanoshells were characterized by Dynamic Light Scattering (DLS), Transmission Electron Microscope (TEM) and IR spectra. The functionalized gold nanoshells showed good targeting ability to liver cancer cells BEL-7404 and BEL-7402 while not to the normal healthy liver cell HL-7702, and also had a low cytotoxic activity. The fluorescence images showed that the gold nanoshells caused death to the liver cancer cells efficiently after being treated with a NIR light in vitro. These simple, stable, low cytotoxic, cancer-cell targeting gold nanoshells present a great promise as delivery agents for the selective photothermal treatment of liver cancer cells.

Alteration of the tongue manifestation reflects clinical outcomes of peptic ulcer disease.

OBJECTIVES: This study investigated whether the tongue inspection technique in Traditional Chinese Medicine (TCM) can be used as a noninvasive auxiliary diagnostic tool to differentiate the subtypes of peptic ulcer disease (PUD) and as an indicator of therapeutic efficacy. SUBJECTS AND METHODS: A total of 198 outpatients from the China Medical University Hospital were recruited. The control group comprised 50 healthy adults. The remaining 148 patients were diagnosed with gastric ulcer, duodenal ulcer, or Helicobacter pylori (Hp) infection using upper gastrointestinal (GI) endoscopy, biopsy, and Campylobacter-like organism test. Tongue appearance was evaluated by a physician experienced in clinical Chinese medicine. Images of the tongue were immediately recorded using a high-resolution digital camera system. RESULTS: The affected group of 148 patients received an 8-week course of ulcer therapy. Of these, 108 patients infected with Hp were subjected to triple therapy in the first week. Forty-nine of these 108 cases infected with Hp completed secondary examination of upper GI endoscopy and tongue inspection. Forty-one of 49 cases (83.7%) were fully cured of Hp infection. These results showed that the color of the tongue body did not change in the cured patients; however, tongue fur was markedly thinner with a color change to white (p<0.05), while sublingual veins with engorgement (p<0.05) and blood stasis (p<0.01) improved after the ulcer healed and Hp was eradicated. CONCLUSIONS: TCM tongue inspection can be potentially used as a noninvasive auxiliary diagnostic method and as an indicator for clinical outcomes for patients with PUD.