Analysis of mutations of 14 genes among 87 patients with myelodysplastic syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R).@*METHODS@#Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared.@*RESULTS@#Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, 0.05).@*CONCLUSION@#Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.

Analysis of mutations of 14 genes among 87 patients with myelodysplastic syndrome / 中华医学遗传学杂志

Objective@#To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R).@*Methods@#Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared.@*Results@#Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, <0.01, <0.01, 0.046, respectively). The IPSS-R scores of MDS patients with mutations were significantly higher than the wild types (P<0.01). The IPSS-R scores of the TP53 mutation groups were 7.82±1.83, which was significantly higher than the control group (3.77±1.66, P<0.01). No difference was found between the IPSS-R between patients carrying TET2, ASXL1, RUNX1, and SF3B1 mutations or the wild types (P>0.05).@*Conclusion@#Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.

Cervical human papillomavirus infection and cervical lesions in postmenopausal women / 中华全科医师杂志

The status of human papillomavirus (HPV) infection and cervical lesions was analyzed among 20 420 postmenopausal women who participated in gynecological disease screening in Shanghai Minhang district 2017.The infection rate of HPV in postmenopausal women was 8.37％(1 710/20 420),and the infection of high-risk HPV 52,58,16,18 accounted for 95.26％(2 029/2 130).The HPV infection rate was 7.37％ in women aged ≥65 years,and that was 8.62％ in women aged＜65 years(x2=6.640,P=0.010).Among 552 cases with pathological results there were 133 cases of cervical lesions.The top 4 HPV infections in patients with cervical lesions were HPV16,52,58 and 33.The rate of cervical lesions was 22.35％ in ≥65 age group,and 24.93％ in ＜65 age group (P＞0.05).The study suggests that HPV genotyping should be taken into account in gynecological disease screening,and the subjects with high-risk HPV infection should be closely followed up;meanwhile,the age limits of screening population should be appropriately extended.

Clinical analysis of 30 cases of cutaneous adverse reactions to tyrosine kinase inhibitors / 中华皮肤科杂志

Objective To investigate the clinical features of cutaneous adverse reactions to tyrosine kinase inhibitors.Methods Thirty patients with cutaneous adverse reactions to tyrosine kinase inhibitors were enrolled from the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2016,and their laboratory test results,histopathological findings and treatment response data were collected and analyzed retrospectively.Results Of the 30 patients,15 presented with acneiform eruptions,10 with eczematoid eruptions,2 with morbilliform rashes,1 with telangiectasia,1 with hand-foot skin reaction,9 with xerosis,7 with nail changes and 4 with hair changes.A patient with grade 4 acneiform eruptions showed a markedly elevated alanine transaminase (ALT) level (315 U/L).Mild ALT abnormalities (48.5-88.1 U/L) were found in 3 patients with grade 3 acneiform eruptions,1 with grade 2 acneiform eruptions,1 with grade 1 acneiform eruptions and 1 with eczematoid eruptions complicated by fever.Two patients with eczematoid eruptions and 1 with morbilliform rashes showed elevated proportions of peripheral blood eosinophils (0.057-0.303).Pathological changes of the acneiform eruptions included hyperkeratosis and dilation of hair follicles and neutrophilic infiltration.Pathological manifestations of eczematoid eruptions included different degrees of spongiosis,thickened spinous layer,irregular elongation of rete ridges and liquefaction degeneration of basal cells in the epidermis,and perivascular infiltration of lymphocytes and eosinophils in the superficial dermis.Patients with grade 1-3 acneiform eruptions received oral minocycline for 6 weeks,skin lesions gradually regressed,but relapse occurred after the withdrawal.After withdrawal of targeted antineoplastic agents and 2-week treatment with systemic glucocorticoids,skin lesions gradually regressed in patients with grade 4 acneiform eruptions,those with eczematoid eruptions complicated by fever,and those with morbilliform rashes.Skin rashes also resolved in patients with mild morbilliform rashes and those with mild eczematoid eruptions after 2 weeks of treatment with antianaphylactic agents and topical glucocorticoids.Oral antibiotics were effective for the treatment of periungual erythematous swelling or granulomas.Conclusion Tyrosine kinase inhibitor-related cutaneous adverse reactions include a constellation of disorders,and hepatic function can be impaired.

Clinical observation of levamlodipine combined with comprehensive psychological intervention in the treatment of hypertension with perimenopausal syndrome / 中国生化药物杂志

Objective To investigate the clinical effect of combined therapy of left and right amlodipine in the treatment of hypertension complicated with perimenopausal syndrome. Methods 50 patients with hypertension associated with peri menopausal syndrome in our hospital from January 2015 to January 2016 were selected,and according to the different treatment and nursing intervention divided into observation group and control group,25 cases in each groups. The control group with routine nursing intervention and benazepril treatment, observation group with amlodipine and comprehensive psychological nursing intervention treatment before and after treatment in two; blood pressure, luteinizing hormone (LH), serum follicle stimulating hormone (FSH), estrogen (E2) level and the changes of anxiety and depression (SAS) (SDS) were recorded in detail, and the relevant data for comparative analysis. Results Amlodipine+comprehensive psychological nursing intervention (observation group) of peri menopausal comprehensive clinical effect is better than that of benazepril+routine nursing intervention patients with hypertension treatment (control group) clinical efficacy, clinical symptoms improved better than the control group, the difference was statistically significant (P<0.05). Conclusion Hypertension patients with perimenopausal syndrome patients choose amlodipine + comprehensive psychological nursing intervention treatment effect significantly, can effectively improve the clinical symptoms and psychological state, and is worthy of clinical application.

Clinical study of high dose hCG combined with psychological intervention in treatment of threatened abortion / 中国生化药物杂志

Objective To investigate and analyze the clinical efficacy of high dose hCG combined with psychological intervention in threatened abortion. Methods 50 patients with threatened abortion in our hospital from February 2015 to October 2016 were selected,and divided into study group and control group,25 cases in each groups. The study group for the first time the dosage of 10000U, after the dose to 5000U, use drug 2 times every week, and at the same time, the implementation of the corresponding psychological nursing intervention; patients in the control group for the first time the dosage was 2000U, after every day of medication 1 time, each time the dosage is still 2000U, to observe and compare the therapeutic effect. Results The patients in the study group, the success rate of pregnancy was significantly higher than the control group, while the patients in the study group, β -hCG and progesterone levels were significantly higher than those in the control group, while the study group after the nursing care of patients with anxiety and depression scores were significantly lower than the control group, the differences between the groups was obvious (P<0.05). Conclusion High dose hCG combined with psychological intervention in threatened abortion is more effective and effective in treatment of threatened abortion.

Differences in Rab protein expressions in McCoy cells with acute versus persistent Chlamydia trachomatis infection / 中华皮肤科杂志

Objective To investigate differences in Rab protein expressions in McCoy cells with acute versus persistent Chlamydia trachomatis (Ct) infection.Methods Cultured McCoy cells were infected with different amounts (400,500,550 μl/well) of Ct strain D suspensions,then cultured with the medium containing 100 U/ml penicillin G (persistent Ct infection groups) or that without penicillin G (acute Ct infection groups).Ct-uninfected McCoy cells receiving no penicillin G treatment served as the blank control group,and those receiving penicillin G treatment as the penicillin group.Mter 48-hour culture,McCoy cells were lysed,proteins were collected,and total RNA was extracted from the cells.Enzyme-linked immunosorbent assay (ELISA) was conducted to measure protein levels of Rab4A,Rab6A,Rab10,Rab11A and Rab14,and fluorescence-based quantitative PCR to quantify mRNA expressions of Rab4A and Rab14 (expressed as 2-ΔΔα).Results Protein levels of Rab4A,Rab6A,Rab10,Rab11A and Rab14 were all significantly lower in the acute than in the persistent Ct infection groups (all Z =3.621,P ＜ 0.001),and lower in the persistent and acute Ct infection groups than in the blank control group (all P ＜ 0.008 3),but insignificantly different between the blank control group and penicillin group (all P ＞ 0.05).In addition,the expressions of Rab4A and Rab14 mRNAs were consistent with those of their proteins in these groups.Conclusion The transcriptional and expression levels of Rab proteins are higher in McCoy cells persistently infected with Ct than in those acutely infected with Ct.

Clinical analysis of pseudoepitheliomatous keratotic and micaceous balanitis: five case reports / 中华皮肤科杂志

Objective To investigate clinical and pathological features of pseudoepitheliomatous keratotic and micaceous balanitis (PKMB).Methods The clinical and pathological features as well as treatment of PKMB were retrospectively analyzed in 5 male patients collected from Janumy 2008 to December 2013.Results The age at onset of PKMB varied from 56 to 67 years in these 5 patients,and none of the patients had received prepucectomy.Indurated keratotic plaques were observed in the glans of penis and inner lamina of the prepuce with no tenderness on palpation,whose surfaces were covered with grayish yellow,adherent and hard micaceous crusts.Histopathological study revealed obvious hyperkeratosis complicated by parakeratosis,epidermal pseudoepitheliomatous hyperplasia,thickened spinous layer,and normal cell polarity in the epidermis,as well as telangiectasis and mild to moderate lymphocytic infiltration in the upper dermis.Immunohistochemical examination showed positive nuclear staining of epidermal cells for human papillomavirus (HPV) in 2 cases.Two patients took small doses of prednisone,but achieved no obvious improvement.Oral isotretinoin had resulted in a favorable outcome in another two cases,but relapse occurred after dose reduction,and thick crusts still appeared after topical application of glucocorticoid cream and tacrolimus cream,or carbon dioxide laser treatment and photodynamic therapy.Conclusions PKMB is a chronic and obstinate disease,and should be diagnosed based on pathological findings.Its treatment is difficult,and tretinoin has some effects,but relapse often occurs after drug withdrawal and maintenance treatment is needed.