Adolescent ; Adult ; Aged ; Aged, 80 and over ; Ascites ; pathology ; Biopsy ; Biopsy, Fine-Needle ; Child ; Cytodiagnosis ; methods ; Diagnosis, Differential ; Female ; Humans ; Leukemia-Lymphoma, Adult T-Cell ; pathology ; Lymphoma, B-Cell ; pathology ; Lymphoma, Large B-Cell, Diffuse ; pathology ; Lymphoma, T-Cell ; pathology ; Male ; Middle Aged ; Pleural Effusion ; pathology ; Young Adult

OBJECTIVETo explore the therapeutic effect of STI571(imatinib mesylate) on advanced gastrointestinal stromal tumors (GISTs).

METHODSClinical data of 5 cases with advanced GISTs were analyzed retrospectively.

RESULTSThe expression of c- kit (CD117) was detected by immunohistochemical method in five patients with advanced GISTs . All patients failed to systematic chemotherapy or radiofrequency and operation because of extensive and multiple metastases (4 cases underwent 1 to 3 times of exploratory surgery). Tumor size was markedly decreased one to six months after STI571 given without serious drug- related side effects.

CONCLUSIONSSTI571 is an effective chemotherapy for advanced unresectable or metastatic GISTs. Inhibitor of the Kit signal- transduction pathway is a promising regimen that is different from conventional chemotherapy for advanced GISTs.

Adult ; Aged, 80 and over ; Benzamides ; Female ; Gastrointestinal Stromal Tumors ; drug therapy ; pathology ; Humans ; Imatinib Mesylate ; Male ; Middle Aged ; Neoplasm Staging ; Piperazines ; therapeutic use ; Proto-Oncogene Proteins c-kit ; metabolism ; Pyrimidines ; therapeutic use ; Retrospective Studies

Acquired Immunodeficiency Syndrome ; complications ; pathology ; Antigens, CD34 ; metabolism ; Gastrectomy ; methods ; Humans ; Male ; Middle Aged ; Sarcoma, Kaposi ; metabolism ; pathology ; surgery ; virology ; Stomach ; pathology ; Stomach Neoplasms ; metabolism ; pathology ; surgery ; virology ; Vimentin ; metabolism

BACKGROUNDLymphangioleiomyomatosis (LAM) is a rare disease that predominantly affects young females. It is considered as an "orphan" life-threatening disease of unknown etiology, with uncertain clinical prognosis, and no effective treatment. LAM can arise sporadically or in association with tuberous sclerosis complex (TSC), an autosomal inherited syndrome characterized by hamartoma-like tumor growth and pathologic features that are distinct from manifestations of pulmonary LAM. The clinical course of LAM is characterized by progressive dyspnea on exertion, recurrent pneumothorax, and chylous fluid collections.

METHODSFourteen cases of LAM from Zhongshan Hospital, Fudan University are reviewed, twelve were confirmed by lung biopsy, one by retroperitoneal lymphangioleiomyoma resection, and one by autopsy.

RESULTSAll 14 patients were women, aged 18 to 69 years (mean 43.3 years, median 46.5 years). Haemoptysis (57.1%) and chylothorax (35.7%) were more frequent than those described in previous case series. Extrapulmonary findings such as renal angiomyolipoma (AML), enlarged abdominal lymph nodes, liver AML and retroperitoneal lymphangioleiomyoma were seen in 21.4%, 14.3%, 7.14% and 7.14% in 14 cases respectively, which is remarkably lower than in the previously reported. Abnormal smooth muscle cells (LAM cells) were found to line the airways, bronchioles, lymphatics and blood vessels leading to airflow obstruction and replacement of the lung parenchyma by cysts. There were some surprises in the autopsy case as several LAM cell emboli were found in the veins of mediastinum lymph nodes; LAM cells were found to be disseminated in soft tissues adjacent to the ilium.

CONCLUSIONSWomen with unexplained recurrent pneumothorax, tuberous sclerosis, or a diagnosis of primary spontaneous pneumothorax or emphysema in the setting of limited or absent tobacco use should undergo high-resolution computed tomography (HRCT) scan screening for LAM. Routine abdominal and pelvic imaging examinations should be performed to detect extrapulmonary involvement. The autopsy studies histologically suggested that LAM could be a multisystemic disease and LAM cells might possess metastatic potential.

Adolescent ; Adult ; Aged ; Contraceptives, Oral, Synthetic ; Female ; Humans ; Immunohistochemistry ; Lymphangioleiomyomatosis ; diagnosis ; drug therapy ; metabolism ; pathology ; surgery ; Medroxyprogesterone ; therapeutic use ; Middle Aged ; Ovariectomy ; Progesterone ; therapeutic use ; Progestins ; therapeutic use ; Young Adult

OBJECTIVETo study the clinicopathologic features of focal nodular hyperplasia (FNH) of liver.

METHODSThe clinical, radiologic, pathologic findings and follow-up data of 238 cases of FNH were retrospectively analyzed.

RESULTSThe patients included 93 females and 145 males. The age of the patients ranged from 11 to 77 years (median = 39.1 years). Amongst the 233 patients who had clinical information available, 188 were asymptomatic, 216 had no history of hepatitis B and/or C infection and 232 had negative serum alpha-fetoprotein level. Amongst the 185 patients who had undergone radiologic examination, 123 (66.5%) were accurately diagnosed as such. Macroscopically, of the 284 lesions from 238 patients, the average diameter was 3.7 cm. Two hundred and fifteen cases (90.3%) were solitary, 172 cases were located in the right lobe and 115(40.5%) had central stellate fibrotic scars or lobulated cut surface. Histologically, 229 lesions belonged to classic type and 9 lesions were of non-classic type. The latter was further classified as the telangiectatic form (6 lesions) and the mixed hyperplastic and adenomatous form (3 lesions). There was no evidence of significant cytologic atypia. Follow-up data were available in 173 patients (72.7%). None of them died of the disease and 2 patients suffered from relapses after 2 and 4 years, respectively.

CONCLUSIONSFNH is a hyperplastic response of normal liver cells to local blood flow anomalies. It has no obvious sex predilection and more than 66% can be diagnosed accurately with radiologic examination. The lesions in the current study show no cytologic atypia.

Adenoma, Liver Cell ; pathology ; Adolescent ; Adult ; Aged ; Biopsy ; Carcinoma, Hepatocellular ; pathology ; Child ; Diagnosis, Differential ; Female ; Focal Nodular Hyperplasia ; diagnosis ; diagnostic imaging ; pathology ; surgery ; Follow-Up Studies ; Humans ; Liver ; pathology ; Liver Neoplasms ; pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Recurrence ; Retrospective Studies ; Tomography, X-Ray Computed ; Ultrasonography ; Young Adult

Objective:To investigate the clinical and genetic features of early-onset Alzheimer's disease(EOAD)and the characteristics of pathogenic mutations in probands and their families.Methods:Clinical and genetic features of three EOAD probands and their family members China were analyzed and summarized.Peripheral blood of three probands and their relatives was collected and the genes were detected by second generation sequencing(Next Generation Sequencing, NGS). Pathogenic mutations carried by the probands were identified by whole exome sequencing and then verified by Sanger sequencing in the probands and their families.Furthermore, the clinical and genetic characteristics of EOAD were discussed.Results:The first case was familial EOAD, with the heterozygous mutation c. 851C>T(p.P284L)in exon 8 of PSEN1.The second was also a case of familial EOAD, involving the heterozygous deletion mutation c. 497_499del(p.Ile167del)in exon 6 of PSEN1.In the third proband, there was no family history and the c. 626G>A(G209E)mutation was found in exon 7 of the PSEN1 gene.All three patients had memory loss as their first symptom, accompanied by clinical manifestations of slow movement, abnormal gait, unclear speech, bladder and bowel incontinence, psychiatric and other symptoms.Conclusions:These mutations represent additional mutation types and clinical manifestations in EOAD patients.Examining the genetic characteristics of PSEN1 in EOAD may contribute to the understanding of the pathogenesis, genetic classification and clinical diagnosis of EOAD.

Primary angle-closure glaucoma (PACG) is a common subtype of glaucoma and one of the leading causes of blindness in Asia.Trabeculectomy has been recognized as an effective filtering surgery for PACG and is widely used in clinical practice, but its high risk of postoperative complications, especially bleb scarring over time can not be ignored.Nowadays, non-bleb-based minimally invasive glaucoma surgeries (MIGS) have attracted much attention.Surgeries opening, restoring, or expanding Schlemm canal to reconstruct aqueous humor outflow pathway is one of the MIGS and able to achieve moderate intraocular pressure (IOP) reduction, which has been widely used in the treatment of primary open-angle glaucoma (POAG) for a long time.However, based on the pathogenesis of PACG and its similar pathological changes in Schlemm canal to POAG, some retrospective studies and prospective single-arm studies discovered that Schlemm canal surgery combined with phacoemulsification and/or goniosynechialysis appears to lower IOP well and safe in PACG eyes in recent years.Whether Schlemm canal surgery is also suitable or effective for PACG is getting some attention and is still controversial up to now, mostly due to some differences in pathogenesis between PACG and POAG, it is necessary to perform randomized controlled trials to confirm the efficacy of Schlemm canal surgery for PACG and upgrade the therapeutic strategy of PACG.

Error related negativity (ERN) is generated in frontal and central cortical regions when individuals perceive errors. Because ERN has low signal-to-noise ratio and large individual difference, it is difficult for single trial ERN recognition. In current study, the optimized electroencephalograph (EEG) channels were selected based on the brain topography of ERN activity and ERN offline recognition rate, and the optimized EEG time segments were selected based on the ERN offline recognition rate, then the low frequency time domain and high frequency time-frequency domain features were analyzed based on wavelet transform, after which the ERN single detection algorithm was proposed based on the above procedures. Finally, we achieved average recognition rate of 72.0% ± 9.6% in 10 subjects by using the sample points feature in 0~3.9 Hz and the power and variance features in 3.9~15.6 Hz from the EEG segments of 200~600 ms on the selected 6 channels. Our work has the potential to help the error command real-time correction technique in the application of online brain-computer interface system.

With high incidence, high disability rate and serious impact on patients' quality of life, advanced primary angle-closure glaucoma (PACG) with cataract is a severe eye disease in China and its main treatment method is surgery.Phacoemulsification cataract extraction and intraocular lens implantation (PEI) combined with trabeculectomy has been used to treat advanced PACG with cataract, but there are many postoperative complications.Recently, combined PEI, goniosynechialysis (GSL) and goniotomy (GT) has been proven to be a safe and effective surgical treatment for advanced PACG with cataract.At present, the combined PEI+ GSL+ GT surgery has been widely applied, but there is still a lack of uniform standards for its clinical application.Therefore, it is necessary to formulate a detailed and complete recommendation of the surgical procedures for PEI+ GSL+ GT, to standardize its application in clinical practice.Based on the analysis of the existing problems, some glaucoma experts in China have formulated detailed and complete operation norms, as well as expert recommendations on surgical indications and contraindications, anesthetic methods, surgical techniques and perioperative medication to standardize the application process of PEI+ GSL+ GT in clinical practice.

Minimally invasive glaucoma surgery (MIGS) has been successfully incorporated in clinical practice in recent years.Increasing evidence shows that MIGS also plays an increasingly important role in the treatment of primary angle-closure glaucoma (PACG). Surgical peripheral iridectomy (SPI) plus goniosynechialysis (GSL) and goniotomy (GT), as a new procedure, has been proven to be safe and effective in the treatment of PACG with no or mild cataracts.However, there is still a lack of uniform standards for indications, surgical procedures, and perioperative medication.Therefore, it is necessary to formulate a detailed and complete expert recommendations on surgical procedures to standardize the application of combined SPI+ GSL+ GT in the treatment.Some experts in glaucoma treatment and management in China have discussed the current problems and developing trend in MIGS for PACG and put forward the expert recommendations of standard process, including indications, anaesthetic methods, surgical site, operating procedure and rational administration of drugs in perioperation, in order to standardize the medical process of clinicians using combined SPI+ GSL+ GT in PACG treatment and lay a foundation for better evaluation of the efficacy of MIGS.