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Anaplastic thyroid cancer (ATC) is the most malignant thyroid cancer with a low incidence but high mortality. ATC is highly aggressive, rapidly progressing, and has poor prognosis. Current treatment options is not efficacious, so there is an urgent need to investigate its pathogenesis to update the treatment and improve the survival rate. Previous studies have found that most ATC can develop from well-differentiated thyroid cancer, and BRAF and RAS mutations are the key driving factors of ATC. TP53, PI3K pathway, PTEN, TERT, SWI/SNF complex Subunit, NF2 and other mutations also play an important role in the occurrence of ATC. Recent studies have found that single gene mutation is often not sufficient to drive the occurrence of ATC, and ATC is usually developed from the accumulation of multiple mutations in well-differentiated thyroid cancer. Therefore, this paper reviews the role of common combined mutations in ATC, deepens the understanding of the pathogenesis, and provides a basis for finding effective therapeutic targets.
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Hashimoto thyroiditis(HT) is a classic autoimmune thyroiditis (AIT), characterized by diffuse lymphocytic infiltration, destruction of thyroid structure, and positive autoantibodies. The pathogenesis of HT is complex and related to genetic susceptibility, immune system disorders, and environmental factors. The imbalance of T helper cell 1 (Th1)/ T helper cell 2 (Th2) is traditionally believed to be the main mechanism of HT. However, recent studies have shown that T helper cell 17 (Th17) plays an important role in the occurrence and development of HT through non-coding RNA regulation, autophagy-related pathway regulation, the balance with regulatory T cell (Treg). These mechanisms can enhance the release of inflammatory factors and aggravate HT by stimulating the differentiation of Th17, the inflammatory environment of HT also further stimulates the differentiation of Th17 and amplifies the inflammatory response. The regulatory mechanisms of Th17 are complex and have not yet been fully studied. Therefore, this article reviews the related mechanism of Th17 in HT to provide insights for novel therapeutic targets.
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Duodenal cancer is a clinically rare gastrointestinal malignant tumor. Its early symptoms lack specificity, making it difficult to diagnose clinically and easy to be misdiagnosed and missed. The treatment of duodenal cancer is mainly surgery, supplemented by radiotherapy and chemotherapy. Most patients have already experienced local invasion or distant metastasis at the time of first diagnosis, and lack of effective treatment, the prognosis is extremely poor. In recent years, a series of studies have pointed out that targeted therapy and immunotherapy can improve the prognosis of patients with duodenal cancer. This article reviews the progress of diagnosis and treatment of duodenal cancer, hoping to help guide clinical diagnosis and treatment and develop new treatment options.
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Objective To analyze mutations in the GJB2 gene in a Chinese patient with keratitis-ichthyosis-deafness (KID)syndrome complicated by cutaneous squamous cell carcinoma. Methods Clinical data were collected from a patient with KID syndrome complicated by cutaneous squamous cell carcinoma. Peripheral blood samples were obtained from the patient and her parents, and DNA was extracted from these blood samples. PCR was performed to amplify the exon 2 of the GJB2 gene followed by direct DNA sequencing. Results A mutation (c.148G > A)was identified at position 148 in exon 2 of the GJB2 gene, which caused a codon change from GAC to AAC and resulted in the substitution of aspartate by asparagine at position 50 in the connexin26 (Cx26)protein (p.Asp50Asn). Inaddition,anothermutation(c. 79G > A), which led to the substitution of valine by isoleucine at codon 27 in Cx26 (p.Val27Ile), was found at position 79 in exon 2 of the GJB2 gene. Neither of the two mutations was detected in the patient′s parents. Literature review revealed that 13 cases of KID syndrome complicated by cutaneous squamous cell carcinoma had been reported in abroad, and the mutation c.148G > A was detected in the GJB2 gene in all the 7 cases finally diagnosed by gene sequencing. Conclusion GJB2 gene mutations may be responsible for the clinical phenotype of KID syndrome in this Chinese patient, and the mutation c.148G > A may be related to the development of cutaneous squamous cell carcinoma.
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Objective To analyze mutations in the cathepsin C (CTSC) gene in a patient with Papillon-Lefèvre syndrome (PLS).Methods Clinical data were collected from a patient with PLS.Two milliliters of venous blood samples were obtained from the patient,his parents and 100 unrelated healthy controls separately.DNA was extracted from these blood samples,and PCR was performed to amplify all the 7 exons of the CTSC gene followed by direct DNA sequencing.Results Two heterozygous mutations were observed in the CTSC gene of the patient.One was a novel mutation c.824C ＞ T at position 824 in the exon 6,which resulted in a substitution of ACC (threonine) by ATC (isoleucine) at codon 275 (p.T275I).The other one was the mutation c.1040A ＞ G at position 1040 in the exon 7,causing the substitution of TAT (tyrosine) by TGT (cysteine) at codon 347 (p.Y347C).His father and mother carried the heterozygous mutation c.824C ＞ T and c.1040A ＞ G respectively.Neither of the two mutations was observed in the 100 healthy controls.Conclusions CTSC mutations are responsible for the clinical phenotype of PLS.Identification of the c.824C ＞ T mutation extends the spectrum of mutations in the CTSC gene and provides a basis for genetic diagnosis of PLS.
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Objective To investigate the level change and the significance of serum homocysteine(Hcy),endothelial nitric oxide synthase(NOS)and soluble thrombomodulin(STM)in the patients with acute cerebral infarction(ACI).Methods The values of serum Hcy,NOS and STM were detected in the 150 patients with ACI and the 50 healthy individuals and the detection results were performed the significance testing and the correlation analysis.Results Compared with the normal control group,the levels of ser-um Hcy,NOS and STM in the ACI patients were significantly increased with statistical differences(P <0.05).The increased level of NOS and HCY in the ACI patients was positively correlated with the increased Hcy level.Conclusion Hcy,NOS and STM are the markers of endothelial injury occurrence and their detection has certain significance for judging the disease condition and guiding treatment.
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Objective To investigate the correlation between plasma homocysteine (Hcy) and high sensitivity C-reactive protein (hs-CRP) ,Hcy and von Willebrand factor(vWF) in patients with acute cerebral infarction ,and to analyze their clinical significance . Methods 150 patients with acute cerebral infarction were enrolled in the study ,and were divided into 3 groups according to their plasma Hcy concentrations .Meanwhile 50 healthy people were recruited as control group .Plasma hs-CRP ,vWF and Hcy concentra-tions were determined and compared between groups .Then data correlation analysis was performed .Results In patients with acute cerebral infarction plasma hs-CRP ,vWF and Hcy concentrations were significantly higher than those in healthy control group (P<0 .05) .Plasma Hcy concentrations in patients with acute cerebral infarction were positively correlated with plasma hs-CRP and vWF concentrations .Conclusion Hs-CRP ,vWF and Hcy are biomarkers of endothelial injury ,the combined detection of the three indica-tors might contribute to the early diagnosis and treatment of acute cerebral infarction .
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Objective To report a Chinese pedigree with benign familial chronic pemphigus (BFCP),and to screen mutations of ATP2C 1 gene in this family.Methods A 39-year-old male patient with BFCP andhis family members underwent a clinical investigation.Blood samples were collected from all the members in this family and from 50 unrelated healthy controls.Genomic DNA was extracted from the blood samples,and PCR was performed to amplify all the 28 exons and flanking sequences of the ATP2C1 gene followed by DNA direct sequencing.The resulted DNA sequences were compared with the reported sequences of APT2C1 gene in Genbank (Number:NM_014382.2 and NC_000003.9).Results There were 24 family members in the four-generation pedigree,with 8 members affected by BFCP.A single-nucleotide substitution,c(1696C→T),in exon 17 of the ATP2C1 gene was identified in all of the members with BFCP,but not in unaffected third-or second-generation members or unrelated healthy controls.This substitution was also found in 1 out of 4 family members of fourth-generation.Conclusions The nonsense mutation c(1696C→T) in the ATP2C1 gene,is likely to be responsible for BFCP in this Chinese four-generation pedigree.The underage family member of fourth-generation who carried the mutation c(1696C→T) but had no clinical symptoms of BFCP,should be closely followed.
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ObjectiveTo investigate the adjuvant effect of heatshock protein 110(HSP110) on the immune responses induced by an altered peptide ligand of human papilloma virus type 16 E711-20 peptide (HPV16E711-20).Methods The complex of HSP110 and an altered peptide ligand of HPV16E711-20 was constructed in vitro.Fifteen 6-week-old C57BL/6 female mice were randonly and equally divided into 3 groups,including complex group,ligand group,and phosphate buffered solution (PBS) group,to receive intraperitoneal immunization with the complex (100 μg),peptide (10 μg),and PBS (100 μl) respectively.Immunization was carried out with an interval of 2 weeks for 2 times.Two weeks after the last immunization,the mice were sacrificed followed by the isolation of splenocytes.MTT assay was performed to evaluate the proliferation activity of splenocytes,intracellular staining for interferon(INF)-γ to detect cytotoxic T lymphocytes (CTLs),standard chromium-51 (51Cr) release assay to estimate the lethal effect of specific CTLs on target cells.Statistical analysis was performed by using t test with SPSS 10.0 software.Differences were considered as statistically significant when the P value was less than 0.05.ResultsA significant increase was observed in the proliferation index ( 1.87 ± 0.122 vs.0.32 ± 0.071,t =4.01,P ＜ 0.01 ) of,and percentage of CD8+IFN-γ+ T lymphocytes(3.9％ vs.0.4％,t =3.88,P ＜ 0.01 ) among splenocytes from the complex group compared with the ligand group.At the effector-to-target ratio of 100 ∶ 1,50 ∶ 1,25∶ 1 and 12.5 ∶ 1,the death rate of target cells was 54.7％,72.2％,61.5％ and 39.8％ respectively after incubation with CTLs from the compleximmunized mice,higher than that from the ligand-immunized mice (35.2％,49.3％,28.1％,17.4％,respectively).ConclusionHSP110 could enhance the immunological effect of the altered peptide ligand of HPV16E711-20,and can serve as an immunological adjuvant.
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Objective To explore if it is essential to excise ipsilateral adrenal gland in radical nephrectomy.Methods Two hundred and sixty-three patients underwent radical nephrectomy were analyzed retrospectively.The duration of operation,bleeding volumn,complications and survival rates were compared between the adrenalectomy and adrenal preserved groups.The clinical data of the patients with adrenal gland involvement were analyzed as well.Results There were 214 clinical localized(T_(1-2)N_0M_0 )renal cell carcinoma (RCC) patients,26 local advanced RCC(T_(3-4)N_(0-2)M_0 ) patients and 23 metastatic RCC(T_(1-4)N_(0-2)M_1) patients in this study.In the 263 patients,146 cases received ipsilateral adrenal gland excisions,while 117 cases had the ipsilateral adrenal glands preserved.The duration of operation,estimated blood loss and the complications did not differ significantly between these two groups.Only 8 patients had adrenal gland involvement.The mean size of the 8 tumors was 9.7 cm and 5 of them had a diameter ≥8 cm.In the 8 patients,6 had the tumor in the upper pole and 2 had the whole kidney involved.One hundred and twenty-nine clinical stage Ⅰ and Ⅱ patients had ipsilateral adrenal excised,while only 4 (3.1%) had adrenal gland involvement.Seventeen clinical stage Ⅲ and Ⅳ patients had ipsilateral adrenal excised,and 4 (23.5%) had adrenal gland involvements.The clinical stages of these 8 patients were stage Ⅲand Ⅳ.The patients were followed up for 28 months (3-102 months).There was no significant difference of 5-year survival rates between the ipsilateral adrenal gland excised and preserved patients categorized according to pathological stage.Conclusion For patients with renal cancer larger than or equal to 8 cm,localized in upper pole of kidney or with the whole kidney involve and with a clinical stage higher or equal to Ⅲ,it is essential to excise ipsilateral adrenal gland in radical nephrectomy,otherwise the ipsilateral adrenal can be preserved.
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Objective To analyze the clinic features and hereditary characteristics of three subtypes of porokeratosis, namely disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata(PPPD) and porokeratosis of Mibelli (PM) in five pedigrees with porokeratosis. Meth-ods After clinical and pathological diagnosis, every living family member of the five pedigrees with poro-kerotosis was undergoing medical examination and genetics analysis. These five pedigrees consisted of three DSAP pedigrees (totally 266 family members including 100 patients), and one PPPD pedigree (composing of 90 members including 26 patients), one PM pedigree (cornposing of 34 members including 17 patients). Results While diagnosed as porokeratosis, the five pedigrees included three distinctive variants, each with its own clinic characteristics. The lesions was initiated on the face in DSAP subtype, on palms and the flex-ion side of fingers in PPPD subtype; or involving sun-covered areas in PM subtype. Of the three subtypes of porokeratosis, the onset age in DSAP subtype was earliest, usually about 8-20 years old, about 14-20 years old in PPPD subtype, but PM subtype about 20-30 years old. Conclusions As a group of autosomal dominant genodermatosis, porokeratosis presented various clinic variants with different genetic basis. And, different subtype could be seen in a same patient or same pedigree.
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Objective To summarize the technical measures in achieving the elimination of lymphatic filariasis in Tengzhou city. . Methods. To collect and analyze the materials on research and control of lymphatic filariasis in Tengzhou city during the disease elimination program over the 40 years.. Results . Following to the national criteria for the control and elimination of filariasis, efforts were made for epidemiological investigation, mass blood examination, and mass drug administration by taking diethylcarbamazine (DEC) medicated salt for the whole population. After the criteria of transmission interruption (basic elimination) of filariasis were met in 1974, re-examination and treatment for the cases with microfilaremia, and parasitological and entomological surveillance were conducted. In 1995, filariasis elimination in the whole city was declared. . Conclusion . Comprehensive measures focusing on the elimination of source of infection were proved effective for interrupting the transmission of filariasis. Unremitting surveillance was necessary for achieving the goal of elimination of filariasis.