Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple different onset forms of frequent recurrent attacks: A case report and literature review.

INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one kind of monogenic hereditary small-vessel disease in the brain caused by mutations in the NOTCH3 gene. However, it is rare for CADASIL to recur with different clinical manifestations in 1 patient, and some atypical clinical manifestations can easily lead to misdiagnosis by clinical physicians. CASE CONCERN: A 34-year-old male presented with transient speech disorder accompanied by weakness in the left side of the body for 1 day in June 2020. Magnetic resonance imaging showed acute ischemic infarction in right centrum semiovale, along with multiple abnormal white matter hyperintensities in the brain. Genetic sequencing identified a heterozygous mutation in the NOTCH3 gene. The patient experienced recurrent episodes in 2021 and 2023, with varying clinical symptoms including visual blurring, abnormal limb sensation, and sudden cognitive dysfunction. DIAGNOSIS: The diagnoses of CADASIL is based on clinical manifestations, imaging results, and genetic reports. INTERVISION AND OUTCOMES: The patient was received symptomatic treatment including antiplatelet aggregation therapy, lipid regulation, and plaque stabilization, resulting in improved symptoms. OUTCOMES: During the course of the disease, after medication treatment and rehabilitation exercise, the patient clinical symptoms have significantly improved. Currently, the patient is closely following up and regularly undergoing relevant examinations. LESSONS: In this rare case, we found that CADASIL can recur multiple times in a patient with different clinical symptoms, which can easily lead to clinical misdiagnosis. Clinicians should consider the possibility of CADASIL in young patients with sudden typical neurological dysfunction.

Low Expression Levels of CXCL12, CXCR4, and CXCR 7 in Peripheral Blood and Decidual Tissues are Associated with Miscarriage in Women.

Miscarriage can cause significant physical and psychological harm to women. The stromal cell-derived factor 1 (SDF-1, also known as CXCL12)/C-X-C motif chemokine receptor 4 (CXCR4) and C-X-C motif chemokine receptor 7 (CXCR7) axis can promote the proliferation and invasion of trophoblast cells in early pregnancy, and maintain immune tolerance at the maternal-fetal interface to aid with pregnancy success. From our findings, the serum CXCL12 level of women who have miscarried (n = 25) was significantly lower than that of healthy early pregnancy women (n = 20) by ELISA (P < .001). Additionally, CXCL12 levels in normal non-pregnant women (n = 20) were significantly lower than those in early pregnancy women (P < .001) and women who have miscarried (P < .001). Quantitative real-time PCR detected no significant difference in the mRNA transcription levels of CXCR4 and CXCR7 in the decidua tissues of women with early pregnancy (n = 20) and miscarriage (n = 20) (P = .724, P = .281, respectively). However, Western blot and immunohistochemistry of CXCR4 and CXCR7 in decidual tissue of women who have miscarried (n = 20) were significantly lower than those in early pregnancy women (n = 20) (P < .05 for both). Therefore, we believe that the increased serum CXCL12 levels in pregnant offspring may benefit normal pregnancy maintenance. The low level of CXCL12 in peripheral blood and the low expression of CXCR4 and CXCR7 proteins in decidua may be associated with the occurrence of early spontaneous abortion, and the clinical application value of serum CXCL12 in predicting adverse pregnancy outcomes is worth further exploring.

Response of Bacterial Community to the Occurrence of Clubroot Disease in Chinese Cabbage.

Clubroot disease is a common soilborne disease caused by Plasmodiophora brassicas Wor. and widely occurs in Chinese cabbage. Soil microorganisms play vital roles in the occurrence and development of plant diseases. The changes in the soil bacterial community could indicate the severity of plant disease and provide the basis for its control. This study focused on the bacterial community of the clubroot disease-infected soil-root system with different severity aiming to reveal the composition and structure of soil bacteria and identified potential biomarker bacteria of the clubroot disease. In the clubroot disease-infected soil, the bacterial community is mainly composed of Actinobacteria, Gammaproteobacteria, Alphaproteobacteria, Bacilli, Thermolrophilia, Bacteroidia, Gemmatimonadetes, Subgroup_6, Deltaproteobacteria, KD4-96, and some other classes, while the major bacterial classes in the infected roots were Oxyphotobacteria, Gammaproteobacteria, Alphaproteobacteria, Actinobacteria, Bacilli, Bacteroidia, Saccharimonadia, Thermoleophilia, Clostridia, Chloroflexia, and some other classes. The severe clubroot disease soil-root system was found to possess a poorer bacterial richness, evenness, and better coverage. Additionally, a significant difference was observed in the structure of the bacterial community between the high-severity (HR) and healthy (LR) soil-root system. Bacillus asahii and Noccaea caerulescens were identified as the differential bacteria between the LR and HR soil and roots, respectively. pH was demonstrated as a vital factor that was significantly associated with the abundance of B. asahii and N. caerulescens. This study provides novel insight into the relationship between soil bacteria and the pathogen of clubroot disease in Chinese cabbage. The identification of resistant species provides candidates for the monitoring and biocontrol of the clubroot disease.

Research on antibody changes and nucleic acid clearance in COVID-19 patients treated with convalescent plasma.

PURPOSE: To investigate changes in the production of IgM and IgG antibodies and the negative transformation of viral nucleic acids in COVID-19 patients after convalescent plasma therapy, and also to discuss the clinical therapeutic effect, so as to provide a basis for the treatment of COVID-19 using specific antibodies. METHODS: The convalescent plasma of recovered patients from COVID-19 was used to treat other patients, and the levels of antibodies IgM and IgG and the nucleic acid genes ORF1ab and N in the patients were tested regularly for statistical comparison and analysis. RESULTS: In general, the Ct value and concentration of IgM and IgG antibodies in the plasma infusion group were significantly higher (1-3 times higher) than those in the non-plasma infusion group, respectively, but these differences were not significant (P>0.05). However, the content of antibodies in severe patients in the plasma transfusion group was significantly higher than those in the non-plasma transfusion group at discharge, the results being statistically significant (P<0.05). CONCLUSIONS: The application of convalescent plasma significantly increases the antibody content in severe and critical inpatients, effectively enhances immune function, accelerates the clearance of virus and the nucleic acid negative conversion rate, and significantly promotes early improvement in COVID-19 patients.

STX2 Promotes Trophoblast Growth, Migration, and Invasion Through Activation of the PI3K-AKT Pathway in Preeclampsia.

OBJECTIVES: Abnormal trophoblast behaviors during pregnancy contribute to the development of preeclampsia (PE). Syntaxin2 (STX2) has been shown to be a crucial epithelial mediator in numerous diseases. However, the functions of STX2 and the mechanisms underlying its role in PE remain largely unknown. The aim of this study was to explore the role of STX2 on trophoblast biology and unravel the molecular mechanisms that contribute to the development and progression of PE. MATERIALS AND METHODS: We first compared the expression of STX2 in placental tissues from women with PE and women with normal pregnancies. Then, we investigated the role of STX2 on trophoblast proliferation, migration and invasion in HTR-8/SVneo and primary human trophoblast cells by loss or gain of function experiments. In addition, co-immunoprecipitation, pulldown and immunofluorescence assays were performed to investigate the co-localization of STX2 with other proteins, and to help clarify the mechanisms underlying STX2-mediated functions on trophoblasts. RESULTS: We demonstrated that STX2 expression was downregulated in placental tissues of women with PE compared with those from normal pregnancies. Loss and gain of function experiments further confirmed a role for STX2 in cell proliferation, migration and invasion in trophoblasts. By co-immunoprecipitation, pulldown and immunofluorescence co-localization assays, we revealed that STX2 selectively interacted with p85, a subunit of PI3K, and directly recruited p85 to the cytomembrane, thereby activating the AKT signaling pathway. We further demonstrated that the AKT activation was abolished by the use of a PI3K inhibitor (LY294002), which negatively affected STX2-mediated functions on trophoblasts. CONCLUSION: All together, our findings point to a crucial role for STX2 in PE progression. Our new insights also suggest that STX2 may be a potential diagnostic tool and a novel therapeutic target for treating PE.

A novel alternate feeding mode for semi-continuous anaerobic co-digestion of food waste with chicken manure.

A novel alternate feeding mode was introduced to study the possibilities of improving methane yield from anaerobic co-digestion of food waste (FW) with chicken manure (CM). Two kinds of feeding sequence (a day FW and next day CM (FM/CM), two days FM and the third day CM (FW/FM/CM)) were investigated in semi-continuous anaerobic digestion and lasted 225 days, and the mono-digestions of FW and CM were used as control group, respectively. The feeding sequence of FW/CM and mono-digestion of CM were observed to fail to produce gas at hydraulic retention time (HRT) of 70 days due to the ammonia inhibition, however, the mode of FW/FM/CM was proved to successfully run at HRT of 35 days with a higher OLR of 2.50 kg L(-1)d(-1) and obtain a higher methane production rate of 507.58 ml g(-1) VS and volumetric biogas production rate of 2.1 L L(-1)d(-1).

Epithelial tumors of the lacrimal gland in the Chinese: a clinicopathologic study of 298 patients.

OBJECTIVE: To examine the clinicopathologic characteristics and clinical features of epithelial tumors of lacrimal gland in China. METHODS: The retrospective case series study included all 298 patients of epithelial lacrimal gland tumors which had been collected in the ophthalmic pathologic laboratory of the Tongren Hospital Beijing in the study period from 1961 to 2005. RESULTS: Pleomorphic adenomas were the most common tumors (n = 213 (72%)), followed by adenoid cystic carcinoma (n = 58 (20%)), pleomorphic adenocarcinoma (n = 13 (4%)), primary adenocarcinoma (n = 8 (3%)) and other tumors (n = 6 (2%)). The most frequent symptoms and clinical signs were restrictions of the lid or eye motility (121 patients; 41%), any other kind of lid involvement (71 patients; 24%), swelling (57 patients; 19%), pain (57 patients; 8%), and decrease in vision (15 patients; 5%). A restriction of the eye motility was noted for 61 patients (21%), due to an involvement of the extraocular muscles with the tumor and due to a tumor-induced displacement of the globe. Apart from the duration of symptoms, the tumor types did not vary significantly in age, gender, and laterality. CONCLUSIONS: Based on the archives of the Beijing Tongren ophthalmo-pathological laboratory, the most common epithelial tumors of the lacrimal gland in mainland China were pleomorphic adenomas, followed by adenoid cystic carcinoma. The spectrum and clinical signs of epithelial lacrimal gland tumors did not differ markedly between Chinese patients and Caucasian patients.

[Clinical and pathological analysis of 2639 cases of eyelid tumors].

OBJECTIVE: To describe the histopathologic spectrum and patient characteristics of eyelid tumors in Beijing Tongren Hospital. METHODS: It was a claims database analysis. A total of 2639 eyelid tumors verified histopathologically from January 1997 to December 2006 were included in the study. RESULTS: Of the 2639 eyelid tumors, the 5 most common eyelid benign lesions were inflammatory lesion, melanocytic nevus, papilloma, dermoid cyst and epidermoid cyst, and epithelial cyst. The 5 leading eyelid malignant tumors were basal cell carcinoma, sebaceous gland carcinoma, lymphoma, squamous cell carcinoma and melanoma. The mean age at diagnosis was 61 years for basal cell carcinoma and sebaceous gland carcinoma, 57 years and 52 years for squamous cell carcinoma and melanoma, respectively, and 48 years for lymphoma. There was no significant sex predilection in basal cell carcinoma and sebaceous gland carcinoma. Melanoma and lymphoma occurred more commonly in women, whereas squamous cell carcinoma occurred more commonly in men. CONCLUSIONS: Basal cell carcinoma and sebaceous gland carcinoma were the most common malignant eyelid tumors, and lymphoma ranked third and had an increasing trend. The malignant tumors occurred predominantly in the elderly of 60 years and above.

[Recognize the value of the individually combined therapy for children with retinoblastoma].

Retinoblastoma is the most common intraocular malignant tumor in children. With the introduction of the new therapeutic methods, the aim and the procedures of traditional therapy on retinoblastoma have been changed to the new combined therapeutic procedures, which are based on the preservation of the eyeball and visual function. Compared with the developed countries, there still exist some gaps in the acceptance of new therapeutic conceptions in China. At present, enucleation is still used commonly in China, whereas external beam radiation therapy is a main supplementary treatment. The therapeutic procedures of RB in China are relatively limited and simplistic. Therefore, the authors suggest that we should learn the experience from the developed countries, considering the status in our country, to change the traditional therapeutic idea and to establish a suitable system of individually combined therapy for patients with retinoblastoma in China.

[Study on the risk factors for optic nerve invasion in 381 cases of retinoblastoma].

OBJECTIVE: To investigate the clinical and pathologic outcomes of a large group of retinoblastoma (RB) cases to ascertain the risk factors of RB optic nerve invasion. METHODS: In this paper, we summarized the clinical and pathologic data of 381 retinoblastoma cases in Beijing Tongren Hospital observed from 1990 to 2002. Statistical analyses were performed on the sex, age, unilateral or bilateral cases, length of symptoms, clinical situation, stage, histological type and the degree of optic nerve invasion. RESULTS: The degree of RB optic nerve invasion was closely correlated to clinical stage and tumor differentiation. CONCLUSION: Avoiding the risk factors of RB optic nerve invasion is very important for the prognosis of RB.

Correlation of the expression of telomerase RNA with risk factors for recurrence of sebaceous gland carcinoma.

AIMS: To investigate the expression of human telomerase gene RNA (hTR) and human telomerase reverse transcriptase (hTRT) in eyelid sebaceous gland carcinoma and to evaluate risk factors for sebaceous carcinoma recurrence. METHODS: The expression patterns of hTR and hTRT were detected by in situ hybridization (ISH) in paraffin-embedded samples of 55 eyelid sebaceous gland carcinoma, 12 chalazia, and four sebaceous adenoma. The proliferation index (PI) of sebaceous gland carcinoma was determined by Ki-67 immunolabeling and the results were compared with the expression of hTR and hTRT. Several factors for recurrence of sebaceous gland carcinoma were evaluated by statistical analysis. RESULTS: Expression of hTR and hTRT was present mainly in the sebaceous gland carcinoma tissues and not in adjacent tissues of carcinoma, chalazia, and sebaceous adenoma. The prevalence of hTR, hTRT, and Ki-67 expression in 55 sebaceous carcinoma samples were 84.45%, 58.1%, and 78.18%, respectively. hTR expression was highly associated with the degree of carcinoma differentiation (P<0.001) and hTRT expression was correlated with the proliferation index as determined by Ki-67 staining (P<0.005). There was a correlation between the recurrence of sebaceous gland carcinoma and the patient's onset age (OR=0.914, P<0.05), as well as the time to first treatment (OR=1.163, P<0.01). CONCLUSIONS: Telomerase may play an important role in the carcinogenesis of sebaceous gland carcinoma, and expression of hTR and hTRT combined with other features of sebaceous gland carcinoma may be helpful for the diagnosis and evaluation of clinical prognosis. Risk factors for recurrence of sebaceous gland carcinoma are patients' onset age and the time to first treatment.

[Clinical and pathological features of 112 cases with ocular adnexal lymphoproliferative lesions].

OBJECTIVE: To investigate the histopathological classification and clinical features of ocular adnexal lymphoproliferative lesions. METHODS: The clinical, histomorphological and immuno-histochemical features of 112 cases of ocular adnexal lymphoproliferative lesions (116 paraffin specimens) were studied retrospectively. The lesions were classified according to the World Health Organization classification of tumors of haematopoietic and lymphoid tissues (2001). RESULTS: This group of patients' ages averaged at 49. The mean duration between the onset of the symptoms and the time of presentation was 22 months. Sixteen patients (14.3%) had bilateral lesions. Proptosis or local orbital mass was presented in 69 cases (61.6%). Reactive lymphoid hyperplasia was diagnosed in 11 cases (9.8%) and atypical lymphoid hyperplasia in 10 cases (8.9%). The rest 91 cases (81.3%) were diagnosed as lymphoma, among which 74 cases (81.3%) were extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-EMZL). CONCLUSIONS: MALT-EMZL is the most frequent type of ocular lymphoproliferative lesions in ocular adnexa. The ocular adnexal lymphoproliferative lesions show an indolent course clinically, tending to affect the old. Bilateral case is not uncommon.

[Clinical use of quantitative DNA pathologic examination in eye neoplasms].

Quantitative DNA pathologic examination is an important content of quantitative pathology, which is to use cytochemistry quantitative analytical technique for quantitative analysis of patho-histological structure and intra-cellular DNA level. Quantitative determination of DNA in tumor cells as an objective quantitative index reflecting biological behavior of tumor cells and has an important significance for distinguishing precancerous lesions, borderline tumors, benign and malignant tumors; and for estimating the malignant degree and prognosis. This review introduces the study about DNA quantitative analysis used in clinical pathology of eye neoplasms.

[A five-year overview of basic and clinical research of ophthalmic pathology in China].

This paper briefly reviews the growth and development over the past five years in relation to the work of Pathology Division of Chinese Society of Ophthalmology. In connection with major constitute member organizations of the Division, it depicts their key research areas, major projects undertaken and outcome of achievement, the progress in their research team building and talent nurture programs, as well as their publication status. It also summarily reports the important basic and clinical research carried out on ophthalmic pathology, ophthalmic tumors, ophthalmic orbital diseases, and in other various relevant fields. Finally, the paper contains recommendations as regards the mission and direction to be steered by the Division for future development of the work of ophthalmic pathology in China.

[Clinical and pathological features of 273 cases of lacrimal epithelial tumors].

OBJECTIVE: A retrospective study of histopathological and clinical aspects of 261 cases of lacrimal tumors (273 paraffin specimens) from Ophthalmic Pathology Laboratory, Beijing Tongren Hospital (Dec. 1961 to Jun. 2002) was performed to investigate the pathological classification and clinical features of these tumors. METHODS: Clinical features were analyzed from 261 patients of lacrimal tumors, including patient's history, age, gender, laterality, visual acuity, ultrasound B scan, X-ray, CT, MRI, pre- and post-operation condition, follow-up data and others. These data were compared with the pathological features. RESULTS: Pleomorphic adenoma was the most common tumor in epithelial tumors of lacrimal gland, followed by adenoid cystic carcinoma, pleomorphic adenocarcinoma and adenocarcinoma. Recurrence was observed in 12 cases. The recurrence rate is 4.6%. Four cases was dead, the mortality was 1.5%. CONCLUSION: Pleomorphic adenoma shows a low mortality and a relatively high recurrence rate. The main treatment for pleomorphic adenoma is surgical treatment. It is important to have a correct clinical diagnosis, to select the proper surgical method, drug treatment and postoperative management based on the pathological diagnosis, which can result in a decrease of recurrence rate.

[The study on the correlation between telomerase and histopathologic features of retinoblastoma].

OBJECTIVE: To investigate the correlation between the expression of human telomerase RNA (hTR), human telomerase reverse transcriptase (hTRT) and the proliferation and differentiation of retinoblastoma (RB). METHODS: In 37 RB specimens, the expression of hTR and hTRT was investigated with the methods of in situ hybridization (ISH). Immunohistochemical method was performed to detect the expression of proliferating cell nuclear antigen (PCNA) in RB. All data were analyzed statistically with SPSS. RESULTS: Of 37 RB specimens, positive expression of hTR and hTRT was 83.8% and 89.2%, respectively, while negative results were observed in 2 normal retina tissues. The expressions of hTR and hTRT showed a close correlation to the proliferation and differentiation of RB. Furthermore, there was a close correlation among the expression of hTR and hTRT. CONCLUSIONS: These results suggest that higher expression of hTRT and hTR may be used as new parameters for evaluating the degree of malignancy of RB. The close correlation between the expression of hTR and hTRT and proliferation and differentiation degrees of RB indicats that the expression of telomerase can influence the proliferation and differentiation of RB. Because the telomerase is presented in the Rb, therefore, modulating the telomerase activity may be used as a novel treatment for the RB.

Telomerase expression in sebaceous carcinoma of the eyelid.

BACKGROUND: In humans telomerase is expressed in most cancers and immortal cell lines, and activation of telomerase may play important roles in tumorigenesis and immortalization. This study was to investigate the roles of telomerase activity (TA) and human telomerase RNA (hTR) in sebaceous carcinoma of the eyelid. METHODS: The telomerase repeated amplification protocol (TRAP) was used to demonstrate telomerase activity in 12 cases of sebaceous carcinoma of the eyelid. In situ hybridization (ISH) was used to demonstrate the expression of hTR in 55 cases of paraffin-embedded sebaceous carcinoma of the eyelid, and the results were compared with the proliferative index determined by Mib-1 immuno-labeling, histological patterns and recurrence of the tumor. RESULTS: Different telomerase activity was shown in the 12 cases of sebaceous carcinoma of the eyelid. The positive expression of hTR was 85.5% (47/55) in tumor cells, but not in the adjacent tissues. The positive expression of hTR was correlated with the proliferative activity (as assessed by Mib-1 immunolabelling, r = 0.942, P < 0.001) and the differentiation of sebaceous carcinoma of the eyelid (chi(2) = 17.621, P < 0.001), but not significantly related to tumor recurrence. The level of hTR expression increased with the decrease of differentiation of sebaceous carcinoma of the eyelid. CONCLUSIONS: The results suggest that the up-regulation of telomerase expression plays some roles in tarsal gland carcinogenesis, and the expression of hTR is a useful marker for malignant degree of sebaceous carcinoma of the eyelid.