Pustular psoriasis is not a rare inflammatory skin disease, and is characterized by sudden onset of generalized erythema and sterile pustules complicated by chills, high fever, neutrophilia and elevated levels of C?reactive protein. Due to frequent recurrence, it greatly impacts the quality of life in patients. Recently, it has been gradually found that IL36RN, CARD14 and AP1S3 mutations are associated with the occurrence of pustular psoriasis, and accordingly some new therapeutic approaches have emerged. This review summarizes recent advances in genetics of pustular psoriasis.

Agriculture ; Female ; Humans ; Male ; Occupational Exposure ; Occupational Health ; Risk Factors

Objective To investigate changes in serum bilirubin and internal environment,etc.of neonatal hyperbilirubinemia that before and after the treatment of peripherally arteriovenous synchronous exchange transfusion. Methods In the strict monitoring of vital signs,hyperbilirubinemia peripheral vessels exchange transfusion was applied in five cases of neonatal,and the serum bilirubin,routine blood test,electrolytes before and after the exchange transfusion were detected.Results By comparing the data before and after the exchange transfusion,the total bilirubin and indirect bilirubin decreased obviously,respectively[(414.02 ±56.04)μmol/L,(225.72 ±53.54)μmol/L,t =5.433 P =0.01,(381.82 ±44.68)μmol/L,(199.22 ±57.37 )μmol/L,t =5.615 P =0.01 ],the difference was statistically significant,and also the platelet count were decreased obviously,respectively [(199.00 ± 42.01)×109 /L,(102.00 ±17.72)×109 /L,t =4.758,P =0.001],the difference was statistically significant.After the exchange transfusion,white blood cells,hemoglobin,potassium,sodium,chloride,calcium,glucose,blood pressure, heart rate and blood PH value had decreased or increased slightly,there was no significant difference P >0.05.Cere-bral palsy and other complications did not occur after 12 months of follow -up of the five cases.Conclusion The outer peripheral arteriovenous synchronous exchange transfusion therapy for neonatal severe hyperbilirubinemia can quickly reduce serum bilirubin,and has less impact on the body environment,it is an important and effective salvage treatment of neonatal hyperbilirubinemia,thereby reducing damage to the nervous system of bilirubin.

Cause of Death ; Humans ; Life Expectancy ; Mathematics ; Quality of Life ; Value of Life

Adolescent ; Adult ; China ; epidemiology ; Emergency Service, Hospital ; Female ; Hand Injuries ; epidemiology ; Humans ; Male ; Surveys and Questionnaires

Age-related macular degeneration(AMD)is a kind of degenerative diseases with complex pathogenesis and stimulation of multiple factors.It has become one of the major diseases causing-blindness in the elderly population in China.Recently,some epidemiological findings demonstrated that diabetes mellitus possibly is one of risk factors for AMD,and this will offers a new approach for the prevention and treatment of AMD.Thus,it is very important for US to strengthen the research of mechanism of AMD impacted by diabetes mellitus,pay more attention to the progress of AMD,search for a scientific and rational therapeutic way of improving the prognosis and elevate the quality of life in the patients with diabetes mellitus.

Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE svudrome (HIES) mainly manifesting as multiple cold abscesses.Methods Clinical data were collected and blood samples were obtained from a 17-year-old male patient with HIES and his parents.Genomic DNA was extracted and subjected to PCR for the amplification of the entire coding region and splice sites of the STAT3 gene followed by bidirectional sequencing.Results A heterozygous missense mutation C1427T,which caused a codon change from TCC to TTC and resulted in the substitution of serine by phenylalanine at amino acid residue 476 (p.S476F), was found in exon 16 encoding the DNA-binding domain in the STAT3 gene in the patient, but not in either of his parents.The results of amplified ribosomal DNA restriction analysis were consistent with the findings mentioned above.Conclusion A novel missense mutation S426F was found in the STAT3 gene in the HIES patient with generalized cold abscesses as the prominent clinical manifestation.

China ; Data Collection ; Safety ; Wounds and Injuries ; prevention & control

The specificity of circulating tumor cell (CTC) such as epithelial-mesenchymal transition,fusion of bone marrow-derived cells,resistance anoikis determines the necessity of cell cultivating.The produced cell lines can provide good material basis for further research of malignant tumor metastasis,also provide individualized targeted therapy for patients with a new direction.

The treatment of hereditary retinal disease is still one of the contemporary scientific problems.Leber congenital amaurosis (LCA) is one type of congenital retinal diseases.Desirable results have been achieved in ongoing clinical trials of gene therapy for LCA,and the efficacy and safety in the intraocular injection of a gene inserted in an adeno-associated virus (AAV) have been verified abroad.These results bring hope and opportunity to LCA patients.China has more hereditary retinal disease patients,but gene therapy for hereditary retinal disease and LCA is lacking.Rightly interpreting and objectively evaluating the clinical trials of gene therapy of LCA will provide us with many important references and useful clues to further help us organize and implement clinical trials of gene therapy for hereditary retinal disease in the future.