Analysis of clinical features and genetic variants in an infant with Bloom syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.@*METHODS@#Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.@*CONCLUSION@#Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.

Effect of 1, 25-dihydroxy vitamin D3 on food allergy in mice / 中华实用儿科临床杂志

Objective@#To investigate the effects of 1, 25-dihydroxy vitamin D3[1, 25(OH)2D3] on food allergy(FA) in mice and its mechanism.@*Methods@#A total of 40 BALB/c mice were randomly divided into 5 groups, 8 in each group, including control group (group C) and FA model group (FA group), according to the dose of 1, 25(OH)2D3 intervention, the mice of the FA group were divided into FA0 group (0), FAl group [10 μg/(kg·d)], FAm group [50 μg/(kg·d)] and FAh group[100 μg/(kg·d)]. Egg albumin was used to establish a food allergy model, with different doses of 1, 25(OH)2D3 for gastric intervention, and the control group was replaced by 9 g/L saline.The serum levels of ovalbumin-immunoglobulin E(OVA-IgE), interleukin(IL)-9 and IL-17 of mice were measured by using enzyme linked immunosorbent assay after the last excitation, and HE staining and histopathological examination were carried out in the small intestine of mice.@*Results@#Compared with group C, FA0 group and FAh group small intestinal mucosa in mice had different degrees of damage, partial peeling off, structure disorder, villi epithelial cell focal falls peeling off, necrosis, lamina propria edema, congestion, a large number of inflammatory cells infiltration, low but the FAl group and FAm group had light mucosa damage, intestinal epithelial basically intact, with integrity, no congestion, edema, and inflammatory cells infiltration to a lesser degree.The mean concentrations of serum IgE, IL-9 and IL-17 in different groups were statistically significant (F=40.770, 9.530, 5.624, all P<0.05). Compared with the FA0 group [(41.87±3.19) ng/L], the OVA-IgE of the FAl group [(22.71±4.77) ng/L] and the FAm group [(16.34±2.81) ng/L] were significantly reduced (t=5.533, 11.835, all P<0.01), but there was no significant difference between the FAh group [(36.29±6.52) ng/L] (t=1.673, P>0.05). Compared with the FA0 group [(161.77±50.44) ng/L], the IL-9 levels of the FAl group [(94.29±18.79) ng/L] and the FAm group[(84.45±30.88) ng/L] were significantly lower (t=3.267, 3.366, all P<0.01), while that of the FAh group [(36.29±6.52) ng/L] was not significantly lower (t=0.777, P>0.05). Compared with FA0 group [(81.55±29.37) ng/L], IL-17 levels of FAh group [(133.58±47.05) ng/L] was significantly increased (t=2.653, P<0.05), while IL-17 level of FAl group [(79.41±25.15) ng/L] and FAm group [(58.81±26.00) ng/L] were lower than that of FA0 group [(81.55±29.37) ng/L], but the difference was not statistically significant (t=0.154, 1.640, all P>0.05).@*Conclusions@#Low, medium dose of 1, 25(OH)2D3 supplements can inhibit mice food allergies, but high doses of 1, 25(OH)2D3 improve performance in mice food allergies, and 1, 25(OH)2D3′s influence on the secretion of IL-9 is one that influences mechanism of food allergy.

Effect of 1,25-dihydroxy vitamin D3 on food allergy in mice / 中华实用儿科临床杂志

Objective To investigate the effects of 1,25-dihydroxy vitamin D3 [1,25 (OH)2D3] on food allergy(FA) in mice and its mechanism.Methods A total of 40 BALB/c mice were randomly divided into 5 groups,8 in each group,including control group (group C) and FA model group (FA group),according to the dose of 1,25 (OH)2 D3 intervention,the mice of the FA group were divided into FA0 group (0),FA1 group [10 μg/(kg · d)],FAm group [50 μg/(kg · d)] and FAh group[100 μg/(kg · d)].Egg albumin was used to establish a food allergy model,with different doses of 1,25 (OH)2D3 for gastric intervention,and the control group was replaced by 9 g/L saline.The serum levels of ovalbumin-immunoglobulin E(OVA-IgE),interleukin (IL)-9 and IL-17 of mice were measured by using enzyme linked immunosorbent assay after the last excitation,and HE staining and histopathological examination were carried out in the small intestine of mice.Results Compared with group C,FAo group and FAh group small intestinal mucosa in mice had different degrees of damage,partial peeling off,structure disorder,villi epithelial cell focal falls peeling off,necrosis,lamina propria edema,congestion,a large number of inflammatory cells infiltration,low but the FA1 group and FAm group had light mucosa damage,intestinal epithelial basically intact,with integrity,no congestion,edema,and inflammatory cells infiltration to a lesser degree.The mean concentrations of serum IgE,IL-9 and IL-17 in different groups were statistically significant (F =40.770,9.530,5.624,all P ＜ 0.05).Compared with the FA0 group [(41.87 ±3.19) ng/L],the OVA-IgE of the FA1 group [(22.71 ±4.77) ng/L] and the FAm group [(16.34 ±2.81) ng/L] were significantly reduced (t =5.533,1 1.835,all P ＜ 0.01),but there was no significant difference between the FAh group [(36.29 ± 6.52) ng/L] (t =1.673,P ＞ 0.05).Compared with the FA0 group [(161.77 ±50.44) ng/L],the IL-9 levels of the FA1 group [(94.29 ± 18.79) ng/L] and the FAm group [(84.45 ± 30.88) ng/L] were significantly lower (t =3.267,3.366,all P ＜ 0.01),while that of the FAh group [(36.29 ±6.52) ng/L] was not significantly lower (t =0.777,P ＞0.05).Compared with FA0 group [(81.55 ±29.37) ng/L],IL-17 levels of FAh group [(133.58 ± 47.05) ng/L] was significantly increased (t =2.653,P ＜0.05),while IL-17 level of FA1 group [(79.41 ± 25.15) ng/L] and FAm group [(58.81 ± 26.00) ng/L] were lower than that of FAo group [(81.55 ±29.37) ng/L],but the difference was not statistically significant (t =0.154,1.640,all P ＞ 0.05).Conclusions Low,medium dose of 1,25 (OH) 2 D3 supplements can inhibit mice food allergies,but high doses of 1,25 (OH)2 D3 improve performance in mice food allergies,and 1,25 (OH)2 D3's influence on the secretion of IL-9 is one that influences mechanism of food allergy.

Study about eye complication of nasopharyngeal carcinoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the eye complication of nasopharyngeal carcinoma (NPC), to analysis the clinical manifestation, CT characteristics and pathological diagnosis of eye complications of NPC and to provide the base for early diagnosis of NPC.@*METHOD@#To retrospectively study of 82 cases eye complications in 562 cases NPC, to study their clinical manifestation, CT characteristics and pathological diagnosis.@*RESULT@#The clinical studies showed that eye complication cases were occurred in 82 cases of 562 NPC cases (14.6%). Thirty-six cases in left and 37 cases in right eye, 9 cases in bilateral eyes. Sixty-five cases came from Guangdong, while the others 17 cases come from 5 provinces. There were 9 kinds of eye manifestation. CT appearances: 40 cases suffered from skull base distracted, 6 cases with orbit involved, 2 cases ( in left eyes) with orbit metastasis, 12 cases with nose-sinus involved, 68 case with parapharyngeal space involved, 49 cases with soft issue in wall of styloid process involved (there were many kind of shows in the same case, so the data were repeated in these cases).@*CONCLUSION@#There were multiplicity and complexity in eye complication of NPC. Ophthalmologists should think highly of these cases.

The significance of the expression of Col IV and LN in nasal and paranasal sinus malignant tumor / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the pathological relationship between the expression of Col IV and LN in nasal and paranasal sinus malignant tumor (NPMT).@*METHOD@#The immunohistochemical technique was used to detected the expression of Col IV and LN in NPMT, para-cancer tissues and non-cancer tissues.@*RESULT@#There was a significance on the expression of the Col IV and LN in NPMT, para-cancer tissues and non-cancer tissues (P0.05).@*CONCLUSION@#The Col IV and LN perhaps participate in tumorigenesis of NPMT, and may play the homoioplastic role in different pathological types of the NPMT.

Clinical significance of the expression of p53, p63 and p73 in nasal and paranasal sinus carcinoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the clinical significance of the expression of p53, p63 and p73 protein and the correlation of p53 and p63 in nasal and paranasal sinus carcinoma (NPSC).@*METHOD@#The immunohistochemical technique was used to detect the expression of p53, p63 and p73 in 67 cases of NPSC, para-cancer tissues and non-cancer tissues.@*RESULT@#The positive rate of p53 and p63 protein in NPSC was significantly higher than that in park cancer tissues and non-cancer tissues (P0.05).@*CONCLUSION@#There are positive correlation between p53 and p63 protein in NPSC, and they may play an important role in the tumorgenesis of NPSC. The p73 may not be associated with tumorgenesis of NPSC.

Inhibition of growth and proliferation of Hep-2 cells by targeting c-myc gene using small interference RNA technology / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the effect of small interfering RNA (siRNA) targeting c-myc gene in Hep-2 cells.@*METHOD@#siRNA targeting c-myc mRNA was designed and synthesized. In vitro cultured Hep-2 cells were transfected with lipofectamine 2000 and the inhibitory effect was detected by MTT, morphology, real time PCR assay.@*RESULT@#1) The MTT result showed the c-myc siRNA to be able effectively to suppress the Hep-2 cell multiplication; 2) The real time PCR result showed c-myc at mRNA level inhibition ratio at 94% in group S3; 3) The morphology result showed the c-myc siRNA to be able effectively to suppress the Hep-2 cell multiplication, the cell heteromorphism was diminished.@*CONCLUSION@#siRNA targeting c-myc can remarkably suppress the Hep-2 cell growth and multiplication.

The relationship between the expression of p185 、 CD44v6 and the metastasis of cervical lymphnode in laryngeal squamous cell carcinomas / 中国耳鼻咽喉头颈外科

OBJECTIVE To investigate the rela-tionship between the expression of the proto-oncogene cerbB-2 proteins p185, level of adhesion molecules CD44v6, and lymphoid metastasis of laryngeal squa-mous cell carcinomas (LSCC). METHODS The expres-sion of p185 and CD44v6 in 63 specimen of LSCC tissues were examined by immunohistochemical method. RESULTS There was a significant difference in the expression of p185 between patient groups with and without lymphoid metastasis(P

The impact of lateral rhinotomy on nasal airway / 临床耳鼻咽喉头颈外科杂志

Objective:In order to ascertain the lateral operation and medial maxillectomy affect on nasal airway.Method:Report 16 cases of nasal cavity or nasal sinus neoplasm who were therapied by lateral rhinotomy and medial maxillectomy.They were observed by acoustic rhinometer (AR) and CT examination in 1～2.5 years after the surgery. Result:The feeling of nasal obstruct were disappeared in 3 months after the surgery. The nasal airway resistance(NAR) of the ill nasal cavity was markedly decreased after the surgery, and the total NAR were decreasing unmarkably. The mucous proliferation was notable only in the first year after surgery, and especially on remains of the inferior turbinate or extra wall of nasal cavity.Conclusion:Lateral rhinotomy operation and medial maxillectomy have less impact on nasal airway and the functions.

Preliminary Observation of Apoptotic Feature of T Lymphocyte in Preterm Neonates / 中华围产医学杂志

Objective To study the features and its effect factors of T lymphocyte apoptosis in preterm neonates. Methods The susceptibility to apoptosis of T lymphocytes were determined in 30 full-term neonates and 19 preterm neonates by percentage calculation of apoptosis cell and DNA fragmentation analysis. The expression of CD 25 and CD 38 in peripheral blood mononuclear cells and the volume of IL-2 and IL-6 produced by lymphocytes incubated for 48 h was determined by immunofluorescence procedure and ELISA. Results T lymphocyte apoptosis was easier in preterm(27.2?2.7)%,(34.8?3.9)% than in full-term neonates(21.1?1.4)%,(27.9?2.3)% at incubating 24 h, 48 h(t=10.547,7.789;P

Role of ureaplasma urealyticum infection and maternal-fetal vertical transmission pathway in diseases in neonates / 中国病理生理杂志

AIM: To assess the relationship between ureaplasma urealyticum (UU) infection, vertical transmission pathway and diseases in neonates.METHODS: Specimens of amniotic fluid and cervical swabs from 30 women at delivery, and nasopharynx and urinary mouth secretions from 161 neonates were cultured for UU. RESULTS: The UU positive rate of 30 women at delivery and 8 neonates from puerperas with UU infection were 26.67% and 62.7%, respectively. The detective rate of UU in normal neonates (26 of 130, 20%) was significantly lower than that in sick neonates (14 of 31, 46%) ( P

Significance of CK19 expression in detecting lymph node micrometastases in patients with laryngeal carcinoma / 中国病理生理杂志

AIM: To evaluate the significance of cytokeratin19 (CK19) expression in diagnosing micrometastases in lymph nodes in patients with laryngeal carcinoma. METHODS: Forty cases of laryngeal carcinoma together with 163 lymph nodes were studied by the staining with hematoxylin and eosin(HE)and immunostaining with antibody against cytokeratin 19 (CK19) on histological sections of the primary tumor and regional lymph nodes. RESULTS: In all cases, CK19 was positively expressed in the primary tumor. Among 163 lymph nodes, metastases were confirmed by HE in 23 lymph nodes, and in 42 lymph nodes staining with immunohistochemistry, micrometastases were found in 19 lymph nodes. Micrometastases in the lymphonodes were significantly related to the T staging. CONCLUSION: Immunohistochemical staining is a valuable method for the detection of node micrometastases in patients with laryngeal carcinoma.

Effect of indomethacin on tumor invasion in human laryngeal cancer Hep-2 cells / 中国病理生理杂志

AIM: To assess the effect of indomethacin on tumor invasion in a human laryngeal cancer Hep-2 cell line in vitro. METHODS: Hep-2 cells were exposed to indomethacin at different concentrations for 48 h. Then cell growth rate, the colony formation in soft agar medium and cell mobility were examined, and monolayer invasion assay was performed to assess cell invasion index. RESULTS: Preteatment with indomethacin inhibited the colony formation of Hep-2 cells and the cell mobility, and decreased the invasion index. CONCLUSION: Indomethacin can inhibit the invasion of Hep-2 cells.

Expression of vascular endothelial growth factor in chronic inflammatory mucosa of lacrimal sac / 中国病理生理杂志

AIM: To study the expression of vascular endothelial growth factor (VEGF) in inflammatory mucosa of lacrimal sac. METHODS: Immunohistochemical S-P method was used to examine the expression of VEGF in the mocusa from 12 patients with chronic dacryocystitis and 8 volunteers. RESULTS: The positive rates of VEGF expression in different parts of the mocusa were: basal lamina: 44.3%+7.6%; surface epithelium: 16.9%?4.6%; connective tissue: 15.2%?4.9%, all normal mocusa of 8 cases were negative. There was a significant difference between the two groups (P

EFFECT OF ZINC DEFICIENCY ON THE APOPTOSIS OF IMMUNOCYTES IN THREE WEEKS OLD RATS / 营养学报

Objective: To observe the effects of dietary zinc deficiency on the apoptosis of immunocytes in 3 weeks old rats and study the underlying mechanism. Methods: A zinc-deficient growing rat model was developed. Using TUNEL(terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling) method, the apoptosis of thymocytes and spleen lymphocytes was checked. The expression of bcl-2, bax mRNA in thymus and spleen was detected by RT-PCR. Results: Compared with zinc adequate(ZA) and paired-fed(PF) groups, the percentage of apoptosis cells in thymus and spleen of zinc-deficient(ZD) rats was obviously higher, and the thymus and spleen of ZD rats had a higher expression of bax mRNA. Zinc supplementation could reverse these changes. Conclusion: Dietary zinc deficiency leads to the increase of apoptosis of lymphocytes in thymus and spleen. One important mechanism is that the thymus and spleen have higher expression of bax mRNA, which causes the decrease of bcl-2/bax ratio.

THE EFFECT OF ZINC DEFICIENCY ON THE PHENOTYPES AND SUBSETS OF PERIPHERAL BLOOD LYMPHOCYTES IN GROWING RATS / 营养学报

Objective: To observe the effects of zinc deficiency on peripheral blood lymphocyte phenotypic distribution and the balance between Th1 and Th2 cells in growing rats. Methods: Two-color cytofluorometric analysis was used. Results: Compared with zinc adequate (ZA) and paired-fed (PF) groups, peripheral blood lymphocytes in zinc deficient (ZD) rats had higher percentage of CD8+ cells (cytolytic T cells), lower percentage of CD4+ cells (T helper cells) and lower percentage of CD45RA+ cells (pure B lymphocytes).In addition, zinc deficiency selectively caused reduction of Th1-like CD45RC+CD4+ cells , but Th2-like CD45RC-CD4+cells had no significant changes in weanling rats. Zinc supplementation could reverse these changes. Conclusion: Dietary zinc deficiency leads to changes of lymphocyte phenotypic distribution and the imbalance of Th1 and Th2 subsets. These changes are reversible.