A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene (PTCH), considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study.</p><p><b>METHODS</b>Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing.</p><p><b>RESULTS</b>A new mutation of 3 bp (GAT deletion) was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain (SSD). This deletion was not found in any unaffected members of this family nor in 200 control samples.</p><p><b>CONCLUSIONS</b>Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.</p>

Occult cervical lymph node metastases in 100 consecutive patients with cN0 tongue cancer / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Squamous cell carcinoma (SCC) of the tongue is one of the most common cancers in the oral and maxillofacial region. To provide clinical evidence for selective neck dissection in management of cN0 patients by analyzing the characteristics and correlation of factors of occult cervical lymph node metastases (OCLNM) in patients with SCC of the tongue.</p><p><b>METHODS</b>From 2002 to 2006, 100 consecutive patients with SCC of the tongue were reviewed by analyzing the characteristics of OCLNM, diameter of the tumor, T classifications, depth of invasion, forms of growth, pathological grade and degree of differentiation.</p><p><b>RESULTS</b>The rate of OCLNM in 100 patients with SCC of the tongue was 22%. The most common region with OCLNM was level II in the ipsilateral neck, followed by levels I and III. There were 51.61% (16/31) of OCLNM in level II and 87.10% (27/31) of OCLNM in levels I - III. There was no significant correlation between the diameter of tumor and OCLNM (P > 0.05). OCLNM was statistically significantly correlated with the depth of invasion, forms of growth, pathological grade and degree of differentiation (P < 0.05). The rate of occult metastases increased with the increased pathological grade, the decreased degree of differentiation and the increased depth of invasion.</p><p><b>CONCLUSIONS</b>The most common regions with OCLNM in cN0 patients with SCC of the tongue were levels I - III in the ipsilateral neck. Supraomohyoid neck dissection should be the elective treatment to the neck in patients with cN0 SCC of the tongue by consideration of the clinical and pathological factors for the depth of invasion, forms of growth, pathological grade, and degree of differentiation.</p>

Carotid body tumor: a retrospective study of 26 consecutive cases / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To study the clinical features, diagnoses and operative intervention of carotid body tumors.</p><p><b>METHODS</b>The medical records of 26 patients with carotid body paragangliomas between 1993 and 2004 were retrospectively reviewed.</p><p><b>RESULTS</b>Two of twenty-six patients had bilateral tumors. One patient had malignant tumors with cervical lymph nodes metastases. Twenty-one patients were evaluated with a preoperative angiography. No preoperative embolization was performed. Eleven patients underwent ultrasonography, nine had CT scan of the neck, five had magnetic resonance imaging. Twenty-six patients were all operated. Vascular reconstruction was performed in five cases. The ligation of carotid artery was carried out in four cases and another patient had vagus nerve resection. No death and recurrence occurred in all cases.</p><p><b>CONCLUSION</b>Angiography and ultrasonography are valuable in the diagnosis of carotid body tumor. Surgical removal should be made early to avoid the possibility of eventual metastasis and progressive local invasion. The pattern of operation should be chosed according to the relation of tumor and carotid.</p>

Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To determine the relationship between polymorphisms in the genes encoding IL-1, IL-6, and IL-10 with primary biliary cirrhosis (PBC) in Chinese population.</p><p><b>METHODS</b>Whole-blood samples were taken from 77 patients with PBC and 160 healthy controls. DNA was extracted and the polymorphisms at positions IL-1 +3953, IL-1RN intron 2, IL-6 -174, and IL-10 -1082, -819, and -592 were determined by using sequence-specific polymerase chain reaction (SSP) or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>The frequency of IL-1RN1,1 allele in PBC group was significantly higher than in control group (90.9% vs 79.4%, P=0.026), and the frequency of IL-1RN1,2 in PBC group was significantly lower than in control group (6.5% vs 18.8%, P=0.013). There was no significant difference in the frequence of IL-1RN*2 allele between PBC group and control group (P=0.06). Of the 77 patients with PBC, 4 patients were IL-6 -174GC, 73 were IL-6 174GG. All the 160 health controls are IL-6 -174GG (P=0.0036). The frequence of IL-6 -174C allele in PBC group was significantly higher than that in control group (P=0.0038). No significant differences of polymorphisms for IL-1 +3953 and IL-10 (-1082, -819 and -592) were found between PBC group and control group.</p><p><b>CONCLUSION</b>The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC, and the polymorphisms of IL-1 +3953 and IL-10 promoter gene are not associated with PBC in a Chinese population.</p>

A study on the relationship between interleukin-10 promoter polymorphism and autoimmune liver disease / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To investigate whether three biallelic polymorphisms at the position -592, -819 and -1082 in the promoter region of the IL-10 gene were associated with the incidence of autoimmune liver disease.</p><p><b>METHODS</b>The IL-10 -592 and IL-10-1082 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphisms analysis (PCR-RFLP), while polymerase chain reaction- sequence specific primer (PCR-SSP) assay was used to detect IL-10 -819 polymorphisms.</p><p><b>RESULTS</b>Among 54 Chinese patients with AIH or 77 Chinese patients with PBC versus healthy controls, the frequency of AA, GA genotypes at IL-10 gene promoter -1082 position was 87.0% or 83.1% versus 90.0%, 13.0% or 16.9% versus 10.0%, respectively (P > 0.05), the GG genotype in Chinese populations is absent; the frequency of CC, CT, TT genotypes at IL-10 gene promoter -819 position was 11.11% or 9.1% versus 8.1%, 44.4% or 53.3% versus 45.0%, 44.4% or 37.7% versus 46.9%, respectively (P > 0.05); the frequency of CC, CA, AA genotypes at IL-10 gene promoter -592 position was 4.9% or 14.3% versus 10.0%, 51.2% or 53.3% versus 51.9%, 43.9% or 32.5% versus 38.1%, respectively (P > 0.05). No alleles differed significantly in each groups.</p><p><b>CONCLUSION</b>There were no association between IL-10 gene polymorphisms and autoimmune liver disease</p>

Chemosensitivity testing of oral squamous cell carcinomas with teniposide / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the antitumor effectiveness of teniposide in oral squamous cell carcinomas (OSCC) and to find evidence for using teniposide for treatment of patients with OSCC.</p><p><b>METHODS</b>Seventy-five patients with OSCC from the School of Stomatology, Shanghai Second medical University during 1999 to 2001 were evaluated. Tumors were diagnosed pathologically, and drug sensitivity tested. The antitumor drugs tested were cisplatin (CDDP) and teniposide (VM-26). Fresh drug was diluted in complete medium at fold of five times of peak plasma concentration (PPC x 5) achieved by intravenous administration of clinical doses. The concentrations were VM-26 60 mg/L, CDDP 15 mg/L.</p><p><b>RESULTS</b>The MTT assay was performed in 75 of 81 patients (success rate 92.6%). The clinical stages of the 75 patients according to the UICC TNM classification of malignant tumors were 28 with stage IV, 34 with stage III, 11 with stage II and 2 with stage I. The pathological grades of the 75 patients according to three step classification were 18 with Grade I, 37 with Grade I approximately II and 20 with Grade III. At a drug concentration of PPC x 5, the inhibition rates of tumor cells for VM-26 and CDDP were 63.34% and 24.08%, respectively. The inhibition rates of tumor cells for VM-26 were significantly higher than those for CDDP (P < 0.01).</p><p><b>CONCLUSIONS</b>The inhibition rates of OSCC cells for VM-26 are significantly higher than for CDDP. VM-26 may be the first selected drug for treating patients with OSCC.</p>