Objective To explore the clinical characteristics and treatment of methylmalonic acidemia(MMA) in order to improve our understanding of it.Methods We analyzed the clinical manifestations,laboratory examinations and treatments of 26 cases of methylmalonic acidemia in children.Results Twenty-four cases were involved in nervous system.Nine patients were involved in renal system.Eight cases of hematological involved.Liver enzyme elevated in 2 cases as well as the cardiac system were involved in 3 cases.One case was with pneumonia onset.The laboratory findings showed metabolic acidosis in 12 cases,hyperhomocysteinemia in 8 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases.Some abnormalities in globus pallidus and cerebral white matter as well as diffuse cerebral atrophy were noted by the brain CT and MRI in 15 cases.Sixteen children have received therapy of vitamin B12,and supplementation of L-carnitine with restricted-protein diet.The follow-up for a period ranging from 3 months to 1.5 years( mean 8.5 months) of 15 cases with medical therapy showed a favorable outcome of nervous system improvement in 12 cases,however,2 patients died from severe metabolic acidosis.8 patients with renal involvement were normal in urine routine and renal function.Conclusion Methylmalonic acidemia has different clinical features,so early urine organic acids analysis by GC/MS method is essential Long-term and reasonable treatment after diagnosis is an effective way to improve the prognosis.

Objective To observe the food intolerance of irritable bowel syndrome with diarrhoea(IBS-D) patients and healthy physical examinees and the clinical effect of the treatment of IBS-D food rejectingtrend.Methods Sixty-eight cases IBS-D patients meeting the diagnostic criteria of RomeⅢ were selected and 40 cases of healthy as control group,tested 14 kinds of food specific IgG antibody by enzyme-linked immunosorbent assay,treated the IBS-D patients with food intolerance for 12 weeks by the application of food rejectingtrend and observed the change of main symptoms.Results Among the 68 cases of IBS-D patients,55 cases had at least one of food intolerance,the positive rate was 80.88%;the control group had 13 cases of food intolerance,the positive rate was 32.50%,the difference between the two groups was statistically significant(χ2=25.28,P<0.01).The food with the highest positive rates of two groups were both wheat,egg white/egg yolk,milk and soybean.After 12 weeks of diet treatment,the total score of the symptoms of IBS-D patients decreased from (8.25±2.97) points to (3.13±3.52) points(t=11.107,P<0.01),self scores of the degree 0and frequency of abdominal pain,frequency of diarrhea,degree of abdominal distension,stool shape and general feelings of distress were significantly improved compared with that before treatment(t=12.429,11.016,5.685,5.558,7.681,11.065,P<0.01).Among 54 cases IBS-D patients(1 patient lost to follow-up),61.11%(33/54) significantly improved,24.07%(13/54) improved,14.81%(8/54) invalid,the total effective rate was 85.19%(46/54).Conclusion There is correlation between food intolerance and IBS-D.According to the Results of the detection of food specific IgG antibody,food rejectingtrend treatment can effectively improve the symptoms of IBS-D.

Angiotensin-Ⅱ-induced apoptosis was widely involved in the pathogenesis of diabetes mellitus, cardiovascular diseases, etc. The mechanism of angiotensin-Ⅱ-induced apoptosis is complicated, including the receptor (AT1R and AT2R) level regulation, Fas/FasL pathway, and the regulation by p53 family, Bcl-2 family, Caspase family, Ang-(1-7), etc. Mitochondria damage and oxidative damage play important roles in the apoptosis process. This article reviews the previous researches on angiotensin-Ⅱ-induced apoptosis.

Child ; Child Health Services ; trends ; Delivery of Health Care ; organization & administration ; Education, Medical ; Hospitals, Pediatric ; economics ; organization & administration ; Humans ; Pediatrics ; trends ; Specialization ; Urban Population

BACKGROUND: Each kind of human cell has its own characteristic morphological and functional property. In the skin, epidermal cells, including keratinocyte and melanocyte, also have their own functional characteristics. Thus, it is expected that there are some different responses to external stimuli, such as ionizing radiatio,, free radicals, and cytokines between these cells. OBJECTIVE AND METHODS: To im estigate whether there are different effects of UV light on the viability of cultured human ker tinocytes and rnelanocytes. Cultured human keratinocytes and melanocytes are irradiated by UVB at 5, 25, 50, and 100mJ/cm, and examined by Methylthiazole tetrazollium assay at 0, 1, 3, 6, 24, 48, and 72 hours after UVB exposure. RESULTS: 1. The effects on viability according to the doses of UVB are as follows: 1) In the keratinocytes, the viability was increased in most of the UVB exposure groups within 24 hours after UVB exposure, and was significantly increased at 25, 50, and 100mJ/cm of UVB at 3 hours after UVB exposur.(p<0.05). However, the viability was significantly decreased at relatively high doses of UVB (50, 100mJ/cm) from 48 hours after UVB exposure (p<0.05). 2) In the melanocytes, the viability was decreased in all of the UVB exposure groups within 3 hours, and was significantly decreased in all of the UVB exposure groups at, 1 hour after UVB exposure (p<0.05). The viability was increased from 6 to 24 hours, which was significantly decreased at 100mJ/cm of UVB from 48 hours after UVB exposure (p<0.05). 2. The effects on viability according to the time after UVB exposure at the same dose of UUB In both cells, the viability was increased as time went by. The slopes of the viability curve gradually decreased according to the increment of UVB doses. CONCLUSION: The viability of keratinocyte was decreased at 50mJ/cm of UVB which melanocyte did not show decrease. Melanocyte was more easily damaged than keratinocyte in relatively earlier time period after UVB exposure. These results suggest that the change of viability in cultured keratinocyte and melanocyte after UVB exposure at the dose of less than 100mJ/cm is related to the time course after UVB exposure as well as to the UVB dose.
Cytokines ; Free Radicals ; Humans* ; Keratinocytes* ; Melanocytes* ; Skin ; Ultraviolet Rays

Vitiligo is an acquired systemic disease of the skin characterized by circumscribed patches of complete pigment loss due to destruction of melanocytes. A 28-year old male patient presented with generalized depigmented patchs. We performed microscopic studies of cultured melanocytes from this patient and compared them with those of normal neonatal foreskin. Phase contrast microscopic findings revealed no difference between the two groups of melanocytes, but transmission electron microscopic findings showed dilated circular rough endoplasmic reticulum in cultured melanocytes from our vitiligo patient. We could observe the innate cellular structural aberration of melanocytes from the vitiligo subject.
Adult ; Endoplasmic Reticulum, Rough ; Foreskin ; Humans* ; Male ; Melanocytes* ; Skin ; Vitiligo*

Objective To construct the uItrasound microbubbIes co-carrying recombinant adenovirus containing stromal cell derived factor 1 (SDF-1α) and bone morphogenetic protein 2 (BMP2),and to study the maximum efficiency of carrying adenovirus and the optimum proportion of double gene combined with ultrasound contrast agents.Methods Microbubbles were combined separately with recombinant adenovirus co-expression of enhanced green fluorescent protein and SDF-1α(pAd-EGFP/SDF-1α) as well as red fluorescence protein and BMP2 (pAd-RFP/BMP2) via biotin-streptavidin method,and the maximum efficiency of carrying DNA in microbubbles was detected.Three microbubbles with binary vectors were prepared by blending the two above-mentioned pAd at different ratio (1 ∶1,1 ∶ 2,2 ∶ 1) into the microbubbles.The microbubbles with binary vectors were evaluated though physiochemical properties,fluorescence microscope and flow cytometry to test the carrying rate of DNA in microbubbles.Results There was no significant difference in PH,average diameter and concentrations between targeted microbubbles and control group (P ＞0.05).The carrying efficiency of DNA increased with virus loads in microbubbles,but lowered if further increasing virus amount after reaching saturation.When the proportion of binary vectors and microbubbles was 1 ∶ 1,its efficiency of carrying SDF-1α gene and BMP-2 was approximately equal,and flow cytometry demonstrated that the positive rate of microbubbles labeled by both fluorescein isothiocyanate(FITC) and rhodamine was (65.6 ± 0.5)％.However,it was (59.0 ± 2.3)％ when their proportion was the 2 ∶ 1,which was significantly lower than those when other two proportions (1 ∶ 1 and 1 ∶ 2).Under the fluorescence microscope,the targeted microbubbles were equally surrounded by bright green or red fluorescence.Conclusions Ultrasound microbubbles of double genes carrying EGFP/SDF-1a and RFP/BMP2 is made successfully via biotin-streptavidin method.The optimal proportion of combining microbubbles with double gene is 1 ∶1,which can reveal the optimum load rate and stable combination.

Objective To evaluate the clinical value and safety of hysteroscopy in diagnosis of abnormal uterine bleeding.Methods The clinical characters and histopathological data of 272 cases of abnormal uterine bleeding were retrospectively analyzed.They received hysteroscopy in our hospital from Jan.2010 to Jan.2015.Results Histopathological diagnosis showed 75 cases were with endometrial polyps,including 5 cases misdiagnosed as submucosal fibroids,and the correct diagnostic rate was 93.3％ (70/75).50 cases were with submucosal fibroids,and the diagnostic rate was 90.9％ (50/55).97 cases were endometrial hyperplasia,including 7 cases misdiagnosed as atypical hyperplasia or cancer by hysteroscopy,and the correct diagnostic rate was 92.8％ (90/97).19 cases were atypical hyperplasia or endometrial carcinoma,and the diagnostic rate was 73.1％(19/26).Atrophic endometrium were 23 cases.8 cases had intrauterine device remained.Conclusions Premenopausal women are more likely to present with endometrial hyperplasia,submucosal fibroids,endometrial polyps,while endometrial cancer and precancerous lesions are rare.But in postmenopausal women endometrial polyps,atrophic endometrium,cancer and precancerous lesions are mainly included.Hysteroscopic has a good diagnostic value in endometrial diseases which should be combined with histopathological examination.

Participating in the international conferences helps to get the latest progress in cer-tain areas. It provides important channels of communication and platform for cooperation. The article summarized the categories of international conferences, access to it, way to apply for it, how to apply for financial support, visa and passport, as wellas preparations before. The author's experience attend-ing the seventh Asia-Pacific conference neurochemistry(APSN) held in Singapore, may offer some help for reference.

Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome (PJS).Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother,as well as from 100 unrelated healthy human controls.PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing.Results A novel heterozygous missense mutation (G-to-T transition) was identified at position 1251 in the exon 9 of the STK-11 gene in the patient,but not in his mother or the unrelated healthy human controls.Conclusions The missense mutation A417S,which may affect gene transcription and translation,is a specific novel mutation of STK-11 gene.