Genetic analysis of a patient with familial hypercholesterolemia due to variant of LDLR gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze variant of LDLR gene in a patient with familial hypercholesterolemia (FH) in order to provide a basis for the clinical diagnosis and genetic counseling.@*METHODS@#A patient who had visited the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University in June 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was applied to the patient. Candidate variant was verified by Sanger sequencing. Conservation of the variant site was analyzed by searching the UCSC database.@*RESULTS@#The total cholesterol level of the patient was increased, especially low density lipoprotein cholesterol. A heterozygous c.2344A>T (p.Lys782*) variant was detected in the LDLR gene. Sanger sequencing confirmed that the variant was inherited from the father.@*CONCLUSION@#The heterozygous c.2344A>T (p.Lys782*) variant of the LDLR gene probably underlay the FH in this patient. Above finding has provided a basis for genetic counseling and prenatal diagnosis for this family.

Clinical feature analysis of chronic nasal sinusitis in patients with immunoglobulin G4-related disease / 中华风湿病学杂志

Objective To analyze the clinical features of chronic rhino-sinusitis (CRS) in patients with immunoglobulin G4-related disease (IgG4-RD).Methods A retrospective analysis of the data from March 2013 to July 2015 in our Department of Rheumatology was conducted in patients who were diagnosed as IgG4-RD and were follow-up for over half a year.The clinical features and the results of laboratory tests were compared between of the case group and the control group.The t test,Mann-Whitney U test and Fisher'Exact Test (n ＜40) were used to analyze the data.Results Twenty-four cases in 44 cases of IgG4-RD were complicated with CRS (54％).The mean age was (49±13) years old,with the ratio of male:female was 2∶1;With the longer disease duration [4.0 (1.0,6.3) year vs 0.5 (0.2,4.3) year,U=-2.182,P=0.041],the more the number of organs involved [4.0 (3.8,5.3) vs 3.0 (1.0,4.0),U=-2.827,P=0.005],the higher the ratio of ocular involvement (89％ vs 42％,P=0.013).The higher the percentage of eosinophils in peripheral blood [8.5％(4.0,13.8) vs 3.3％(0.8,8.5),P=0.043],the more common the allergic manifestations (61％ vs 20％,P=0.026),the higher the operation times [1.5(1.0,3.0) vs1.0(0,10),U=2.096,P=0.048] before making the definitive diagnosis than the control group A.The level of ESR/CRP (56％ vs 0,P=0.004) and the number of IgG4 positive plasma cells [57.5(50.0,66.3)/HP vs 10.0(1.8,20.0)/HP,U=4.358,P＜0.01] and the percentage of IgG4/IgG positive plasma cell (40％ vs 10％,P＜0.01) in the nasal mucosal tissues of the IgG4-related chronic rhino-sinusitis were higher than patients with ordinary CRS (the control group B),but there was no difference in the severity of sinusitis manifestations between patients with IgG4-related chronic rhino-sinusitis and the regular CRS.Conclusion IgG4-related chronic rhino-sinusitis is different from regular CRS,and is closely associated with IgG4-related ocular lesion.IgG4-related chronic rhino-sinusitis has some clinical features which are different from other phenotypes of IgG4-related diseases.

CT and MR findings of the respiratory epithelial adenomatoid hamartoma in the nasal olfactory clefts / 中华放射学杂志

Objective To study the CT and MR characteristic features of the respiratory epithelial adenomatoid hamartoma of olfactory clefts. Methods (1)The CT and MRI findings of 29 patients with histologically proved respiratory epithelial adenomatoid hamartoma in the olfactory clefts were retrospectively reviewed.All patients underwent CT and 8 of them underwent MRI. Location, CT and MRI features, and associated findings of the disease were reviewed;(2)The CT findings, olfactory clefts width, total nasal distance, and the ratio of OC to the total nasal distance of the case patients (29 cases) and the control patients (33 patients with sinusitis) were compared to investigate the correlation of the olfactory clefts distance and the incidence of respiratory epithelial adenomatoid hamartoma in olfactory clefts. Results All patients were associated with sinusitis, and 23 had sinonasal polyps, 1 had papilloma. On nonenhanced CT, the OC lesions with the OC widening were isodense to gray matter in all cases, and the lesions caused the adjacent bony expansion and absorption rather than erosion; 15 cases were bilateral diseases and 14 were unilateral;The olfactory clefts width of the case patients and the control patients were (1.03±0.24) cm, (0.71± 0.17) cm, respectively. There was statistically significant difference (t=4.963, P0.05) for the total nasal distance, and was significant difference(t=6.029,P<0.01)in the ratio of OC to the total nasal distance between the two groups. On T1WI, the disease appeared isointense in 6 patients and slightly hypointense in 2 patients compared with gray matter. On T2WI, the lesions revealed heterogeneous isointense in all patients. Regular cribriform pattern was found on MR T2WI and enhanced TlWI. Conclusions The unilateral or bilateral olfactory cleft opacification in chronic sinusitis patients with or without sinonasal polyposis, with involved OC widening and the adjacent bony walls compressed and remodeled may highly suggests the presence of REAH in the OC. The lesions showed inhomogeneous isointense signal on T2WI images, regular cribriform pattern enhancement are typical imaging feature of this entity.

Clinicopathologic characteristics of IgG4-related disease in orbital and periorbital tissue / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the clinicopathologic characteristics of IgG4-related disease in the orbital and periorbital tissue.</p><p><b>METHODS</b>The clinical manifestations and pathologic features of 17 cases of IgG4-related disease affecting the orbital and periorbital tissue encountered during the period from 2012 to 2013 were studied.</p><p><b>RESULTS</b>There were 9 male patients and 8 female patients. The age of patients ranged from 11 to 71 years (mean = 48.5 years). The main clinical manifestation was swelling of the eyelids: bilateral in 11 patients and unilateral in 6 patients. The duration of disease ranged from 5 months to 7 years (more than 2 years in 13 cases). Six patients had history of allergic disorders. In addition to orbital/periorbital involvement, the disease also affected salivary gland, lymph node, lung and kidney. The disease relapsed in 9 patients. Amongst the 8 patients treated with steroids, 5 of them achieved complete remission and the remaining 3 patients had partial remission. The IgG4 level of the 17 cases ranged from 1.49 to 14.88 g/L. Histologic examination showed pseudolymphoma pattern in 8 cases, mixed pattern in 8 cases and sclerotic pattern in 1 case. There were various degrees of lymphoplasmacytic infiltrates (with lymphoid follicle formation) and stromal fibrosis. Classical obliterative phlebitis was absent. Tissue eosinophilia was demonstrated in the 17 cases studied. Immunohistochemical study showed the presence of more than 50 IgG4-positive plasma cells per high-power field, with IgG4/IgG plasma cells ratio more than 40%.</p><p><b>CONCLUSION</b>There are characteristic clinical manifestations, pathologic features and laboratory findings in orbital and periorbital IgG4-related disease. Thorough understanding is important in arriving at a correct diagnosis.</p>

Effect of double activation on the development of frozen-thawed oocytes after intracytoplasmic sperm injection / 中华妇产科杂志

Objective To investigate the influence on developmental potential of frozen-thawed rabbit oocytes with double assisted activation followed by intracytoplasmic sperm injection (ICSI). Methods A total of rabbit oocytes were collected and thawed after vitrification cryopreservation. Among all oocytes were cultured for 1 hour followed by ICSI. 156 Survived oocytes were divided into 5 groups randomly. I0634 single activation: 30 oocytes were added with calcium ionomycin ( I0634 ) at 5 μmol/L for 5 minutes;SrCl2single activation: 26 oocytes were added with strontium chloride at 10 mmol/L for 10 minutes;10634 double activation: 33 oocytes were activated by I0634 twice;SrCl2 double activation: 28 oocytes were activated by strontium chloride twice. Control group: 39 oocytes were not added with any activators. The rate of fertilization, cleavage and blastocysts formation were observed and compared between various groups. Result The rates of fertilization, cleavage and blastocysts formation were in group of SrCl2 single activation were higher than those of I0634 single activation group without statistical difference (54% vs. 33%, 27% vs. 17%, 8% vs. 3%, P <0.05 ). However, those above rates in double activation by I0634 were higher significantly than those of single I0634 activation (82% vs. 33%, 55% vs. 17%, 15% vs. 3%, P < 0.05). The rates of fertilization (61%) was higher and the rate of cleavage (21%) and blastocysts formation (7%) were lower in group of SrCl2 double activation in comparison with group of SrCl2 single activation without reaching statistical difference (P<0.05 ). Notably, the rates of fertilization, cleavage and blastocysts formation in I0634 double activation group were higher than those in group of SrCl2 double activation with statistical difference (82% vs. 61%, 55% vs. 21%, 15% vs. 7%, P<0.05). Conclusion It might enhance the potential of fertilization of oocytes and early embryo development treated by double activation following ICSI, however, those activated oocytes demonstrate rapid cleavage.

Analysis on clinicopathologic characteristics of 216 primary extranodular non-Hodgkin's lymphoma in head and neck / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the clinicopathologic characteristic of the primary extranodular non Hodgkin's lymphoma in head and neck.@*METHOD@#Clinical manifestation and the characteristic of clinicopathology of 216 extranodular non-Hodgkin's lymphoma patients in head and neck were analyzed retrospectively.@*RESULT@#The age of thirty-one to sixty and seventy-one to eighty years old were more common age range in the group of patients. Nasal cavity was the most commonly primary involved site (95 cases, 44.0%), secondly was tonsil (47 cases, 21.8%). The most common histologic subtype was NK/T cell lymphoma, which accounted for 49.5% (107 cases) of cases, secondly was diffuse large B cell lymphoma (DLBCL, 58 cases, 26.7%). The most common histologic subtype in different stach groups respectively is: NK/T cell lymphoma in nasal cavity (74 cases,77.9%), DLBCL in paranasal sinus (6 cases, 50.0%), DLBCL in tonsil (27 cases, 57.4%), NK/T cell lymphoma in nasopharynx (17 cases, 44.7%), and DLBCL in lingual root (5 cases, 45.4%).@*CONCLUSION@#We conclude that primary extranodular non-Hodgkin's lymphoma is common in head and neck patients. There is characteristic in age, primary involved site and histologic subtype, which is helpful to understand these characteristic for pathologic diagnosis.

Effect of Xiange Granule on osteoporosis in ovariectomized rat model / 中国生化药物杂志

Purpose To observe the effect of Xiange Granule on osteoporosis in ovariectomized rat model and explore the mechanism of prevention and treatment of osteoporosis.Methods 60 female rats were randomly divided into blank control group, model group, Xiange Granule low, middle and high-dose group, CEE3 group of 6 groups. The method used ovariectomy made animal model of postmenopausal osteoporosis. Gavage after 3 months measured femur bone mineral density, calcitonin, bone gla protein and estradiol concentration, observed cancellous bone of femur with electron microscope.Results Xiange Granule could significantly increase the bone mineral density, calcitonin, bone gla protein and estradiol levels of the ovariectomized rat model and improve the microstructure of cancellous bone.Conclusion Xiange Granule is effective for prevention and treatment on osteoporosis.

Analysis on clinicopathologic characteristics of 216 primary extranodular non-Hodgkin's lymphoma in head and neck / 临床耳鼻咽喉头颈外科杂志

Objective:To study the clinicopathologic characteristic of the primary extranodular non-Hodgkin's lymphoma in head and neck.Method:Clinical manifestation and the characteristic of clinicopathology of 216 extranodular non-Hodgkin's lymphoma patients in head and neck were analyzed retrospectively.Result:The age of thirty-one to sixty and seventy-one to eighty years old were more common age range in the group of patients. Nasal cavity was the most commonly primary involved site(95 cases, 44.0% ) , secondly was tonsil ( 47 cases, 21.8%). The most common histologic subtype was NK/T cell lymphoma, which accounted for 49.5%(107 cases)of cases, secondly was diffuse large B cell lymphoma (DLBCL, 58 cases, 26.7%). The most common histologic subtype in different swtach groups respectively is: NK/T cell lymphoma in nasal cavity(74 cases,77.9%), DLBCL in paranasal sinus(6 cases,50.0%), DLBCL in tonsil(27 cases,57.4%),NK/T cell lymphoma in nasopharynx(17 cases,44.7%), and DLBCL in lingual root(5 cases,45.4%).Conclusion:We conclude that primary extranodular non-Hodgkin's lymphoma is common in head and neck patients. There is characteristic in age, primary involved site and histologic subtype, which is helpful to understand these characteristic for pathologic diagnosis.

Effect of Tongbi Prescription on the Pathomorphological Changes of Ankles in Adjuvant Arthritis Rats / 中国中医药信息杂志

Objective To observe the effect of Tongbi Prescription on pathomorphological changes of ankles in adjuvant arthritis rats. Methods Rats were randomly divided into six groups: normal control group,model control group,three Tongbi Prescription treated group (respectively with high-,mid-and low-dosages),Tripterygium glycosides treated group (each n=10). Except for the rats of normal control group,the others were injected with Freund’s complete adjuvant. The pathomorphological changes of ankles of each group were measured. Results The pathomorphological changes of high-and mid-dosages Tongbi Prescription treated group and Tripterygium glycosides treated group were lightened than those of model control group obviously (P

Clinicopathologic features of mantle cell lymphoma and the significance of cyclin D1 in diagnosis / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathologic features of mantle cell lymphoma (MCL) and the significance of immunostaining for cyclin D1 in diagnosis.</p><p><b>METHODS</b>Clinicopathologic observation and immunohistochemical staining for CD20, CD45RO, cyclin D1, bcl-2, Ki-67, CD5 for 8 cases of mantle cell lymphoma were performed.</p><p><b>RESULTS</b>The 8 cases of mantle cell lymphoma consisted of 6 males and 2 females, aged from 43 to 78 years (mean 57 years). Histopathologically, MCL demonstrated architectural destruction by a vaguely nodular monomorphic lymphoid proliferation with vaguely nodular, diffuse or mantle zone growth patterns. Analogous to centrocytes, the lymphoma cells with slightly to markedly irregular nuclear contours showed moderately dispersed chromatin and a low mitotic figure. Three cases were transformed into highly aggressive blastoid variants. The tumor cells were positive for CD20, CD5, bcl-2 and cyclinD1 in all 8 cases and negative for CD45RO.</p><p><b>CONCLUSIONS</b>The clinicopathological features and special immunophenotypes were present in mantle cell lymphoma. This tumor can be differentiated from other small B-cell lymphomas on the basis of histopathologic features and positive cyclin D1 immunophenotype. The blastoid variant should also be differentiated from other variants.</p>

Clinical observation of the Aiyishu injection combined with chemotherapy for middle and advanced cancer patients / 肿瘤研究与临床

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