The Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive immunodeficiency disorder characterized by thrombocytopenia and small platelets,eczema,recurrent infections,and increased risk for autoimmunity and malignancy.The gene responsible for this syndrome is WAS protein(WASP)gene.Six mutational hotspots have been identified now.Flow cytometric analysis of the WASP expression in lymphocytes is simple,rapid,and applicable for screening of WAS.WASP gene sequencing analysis can confirm the diagnosis.Hemato-poietic stem cell transplantation(HSCT)is the mainstay of treatment for WAS.So far more than 40 WAS patients have been diagnosed in China.Due to the few reports and varied clinical manifestations,WAS is often misdiagnosed as idiopathic thrombocytopenic purpura.This review will focus on recent progress in understanding the clinical presentations associated with mutations of the WASP gene,the genotype-phenotype correlation and management of this lethal disease.

Objective To investigate the clinical effect of phacoemulsification and individualized intraocular lens implantation in senile cataract patients with super high myopia.Methods Thirty-six cases of senile cataract patients with super high myopia with 49 eyes underwent phacoemulsification and individualized intraocular lens implantation,postoperative uncorrected distance visual acuity,best corrected visual acuity,diopter and surgical complications were observed.Results All surgical eyes visual acuity had improved to varying degrees,the postoperative far visual acuity in 0.05-0.30,the near visual acuity in 0.02-0.50,best corrected visual acuity 0.31-0.40 in 22 eyes (44.9％,22/49),≥ 0.5 in 14 eyes (28.6％,14/49).The postoperative diopter ＜-1.00 D in 3 eyes,-1.00 to-2.00 D in 16 eyes,-2.01 to-3.00 D in 27 eyes,and ＞-3.00 D in 3 eyes.Diopter difference with the goal ＜ ± 0.50 D in 21 eyes,± 0.50 D to ± 1.00 D in 18 eyes,＞ ± 1.00 D in 10 eyes.Postoperative corneal edema in 28 eyes,were completely disappeared within 1 week to 3 months,no retinal detachment and corneal decompensation and other serious complications.Conclusion Senile cataract patients with super high myopia are treated with phacoemulsification and individualized intraocular lens implantation,visions improve ideal and have good clinical efficacy.

Thyroid hormone is an important hormone for regulating cell differentiation,growth and metabolism.Many studies have shown that thyroid hormone can induce turmor angiogenesis after binding with the integrin ανβ3 receptor at cell surface.Tetraiodothyroacetic acid is the analogue of thyroid hormone,and can inhibit tumor angiogenesis by inhibiting the binding of thyroid hormone with integrin ανβ3.Studying the role of thyroid hormone in promoting tumor angiogenesis may provide a new approach for molecular targeted therapy of tumor.

OBJECTIVETo explore the effect of Qingfei Huoxue Recipe (QHR) combined azithromycin in treatment of intractable pediatric mycoplasma pneumonia.

METHODSTotally 124 intractable pediatric mycoplasma pneumonia patients at our hospital were recruited in this study, and randomly assigned to the treatment group and the control group, 62 in each group. Patients in the control group took azithromycin, while those in the treatment group additionally took QHR. All patients received omnibearing systematic nursing. Therapeutic efficacy, clinical indices (such as disappearance time of cough and rales, recovery time of body temperature) , and the incidence of adverse reactions were observed.

RESULTSAfter treatment the total effective rate was 91.94% (57/62 cases) in the treatment group and 77. 42% (48/62 cases) in the control group with statistical difference (P < 0.05). Compared with the control group, disappearance time of cough and rales, recovery time of body temperature were obviously shortened in the treatment group with statistical difference (P < 0.01). There was statistical difference in the incidence of adverse reactions between the two groups [3.23% (2/62 cases) vs 38.71% (24/62 cases) , P < 0.01].

CONCLUSIONIn clinical treatment for intractable pediatric mycoplasma pneumonia, Chinese medicine combined Western medicine plus scientific and systematic nursing showed more obvious advantages with significant efficacy, which was worth spreading.

Azithromycin ; Biomedical Research ; Child ; Cough ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Medicine, East Asian Traditional ; Phytotherapy ; Pneumonia, Mycoplasma ; drug therapy

Objective To study the effect of the Aiyishu injection combined with chemotherapy for middle and advanced cancer patients in the near future curative effect and survival quality.Methods 127 middle and advanced cancer patients were randomly divided into two groups,71 cases in therapeutic group and 56 cases in control group.The therapeutic group and control group both choose the same sickness plants and combined chemotherapy plan of pathology,therapeutic group added the Aiyishu injection 40 ml to drip. The treatment course lasted 14 days,with 3～4 courses,Simple chemotherapy was used in the control group. Results In the therapeutic group,there were 3 cases of complete response(CR),23 cases,of partial response (PR),the rate of response is 36.62 %(26/71).In the control group,there was 1 case of complete response(CR), 10 cases of partial response(PR),the rate of response is 19.64 %(11/56).There was significant difference be- tween the two groups(P0.05),whereas it declined significantly in the control group after chemotherapy(P

Objective To study the effects of environmental exposure to rare earth elements REEs on intelligence of children. Methods Intelligence quotient IQ were examined with Drawing a Man Test in 464 children aged 7-10 years living in RE ore containing area and the control area in Xunwu country Jiangxi province China. Fifteen kinds of REEs in 112 blood samples 69 samples from RE ore area and 43 samples from the control area  were detected by inductively coupled plasma source mass spectrometry ICP-MS. Results All 15 kinds of REEs were detected in each sample the content of blood REEs of the children in the rare earth area 2.18?1.08 ng/g was 1.73 times of that of the children in the control area 1.26?0.35 ng/g the difference was significant P

Objective To improve clinicians'understanding of nephrotic syndrome and myasthenia gravis as adverse events of penicillamine(D-PA).Methods Two patients were reported to develope adverse reaction after taking D-PA.The related literature were reviewed.Result The first case was a systemic sclero- sis(SSc)patient treated with D-PA who developed nephrotic syndrome and blepharoptosis.The second case was a rheumatoid arthritis patient treated with D-PA who developed dysphagia and drinking bucking.The clinical symptoms were improved after disconting D-PA.Their conditions were stable up to now.Conclusion D-PA is used widely for various of autoimmune diseases.Clinicians should pay attention to these special and rare adverse effects.

Objective To explore the relationship between dipeptidyl peptidaseⅡ(DPPⅡ) and the pathogenesis of congenital cataract.Methods Eighty SCR rats with congenital cataract were randomly divided into four groups:8,10,12 and 14 weeks groups(n=20).Normal Wistar rats at each age were used as control groups.Immunohistochemical experiments using the streptavidin-biotin immunoper-oxidase method were used to observe the immunoreactivity changes of DPPⅡ in lens in SCR rats at different time(8,10,12,14 weeks).Results The immunoreactivities of DPPⅡ in the lens epithelial cells and fibres of cataractous lenses of all ages were higher than those in control groups.At the 12th and 14th week,immunoreactive staining of DPPⅡwas found to extend into the perinuclear region.Conclusion The immunoreactivity of DPPⅡ is enhanced in cataractous rat lenses.DPPⅡ may be participated in the proteolytic modification of lens proteins during cataractogenesis.

Aim To investigate whether melatonin ( MT) can alleviate endoplasmic reticulum( ER) stress at an early stage of bleomycin( BLM)-induced lung fi-brosis in mice. Methods Adult healthy male ICR mice were divided randomly into control group, MT group, BLM group and MT + BLM group. In MT group, mice had saline treatment 30 minutes after hav-ing the intraperitoneal injection of MT (10 mg·kg-1 ) and had been intraperitoneally injected with MT once in the following every 24 hours. In BLM group, mice were intratracheally injected with a single dose of BLM (5 mg·kg-1). In MT+BLM group, mice had been intraperitoneally injected with BLM 30 minutes after having MT and had been injected with MT once in the following every 24 hours. In control group, mice re-ceived the same level of saline treatment in the same manner. All mice were dissected for collecting the tis-sue of lungs at different time points (24h, 72h) after BLM treatment. Inflammatory cell infiltration of lungs was determined by HE staining. The level of ER stress related proteins ( GRP78 , p-eIF2α, p-IRE1α) in lungs was determined using Western blot. The distribu-tion of ER stress related proteins ( GRP78 , p-IRE1α, ATF6α, p-PERK) in lungs was detected by immuno-histochemistry. Results The model of BLM-induced acute inflammation of lung fibrosis in mice had been successfully constructed. After BLM treatment, lung weight, lung weight ratio and inflammatory cell infiltra-tion were significantly increased with a significant cor-relation between time and effectiveness. After MT treatment, lung weight, lung weight ratio and inflam-matory cell infiltration were significantly reduced. The results of Western blot showed that MT pretreatment not only prevented the increase of BLM-induced GRP78 protein significantly, but also restrained the phosphorylation of eIF2α and IRE1α in mouse lungs. Immunohistochemistry also showed that MT pretreat-ment reduced the expression of GRP78 , p-IRE1α, ATF6α and p-PERK. Conclusion MT alleviates ER stress effectively at an early stage of BLM-induced lung fibrosis in mice.

Adult ; Carcinoma, Endometrioid ; diagnosis ; pathology ; Cervix Uteri ; pathology ; Diagnosis, Differential ; Endometrial Neoplasms ; diagnosis ; pathology ; Endometrial Stromal Tumors ; diagnosis ; pathology ; Female ; Humans ; Middle Aged