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Treatment-adherence in bipolar disorder: A patient-centred approach

World Journal of Psychiatry 2016年第4期6卷 399-409页

作者： Subho Chakrabarti Department of Psychiatry Postgraduate Institute of Medical Education and Research (PGIMER)

About half of the patients diagnosed with bipolar disorder(BD) become non-adherent during longterm treatment, a rate largely similar to other chronic illnesses and one that has remained unchanged over the years. Non-adherence in BD is a complex phenomenon determined by a multitude of influences. However, thereis considerable uncertainty about the key determinants of non-adherence in BD. Initial research on nonadherence in BD mostly limited itself to examining demographic, clinical and medication-related factors impacting adherence. However, because of inconsistent results and failure of these studies to address the complexities of adherence behaviour, demographic and illness-related factors were alone unable to explain or predict non-adherence in BD. This prompted a shift to a more patient-centred approach of viewing nonadherence. The central element of this approach includes an emphasis on patients' decisions regarding their own treatment based on their personal beliefs, life circumstances and their perceptions of benefits and disadvantages of treatment. Patients' decisionmaking processes are influenced by the nature of their relationship with clinicians and the health-care system and by people in their immediate environment. The primacy of the patient's perspective on non-adherence is in keeping with the current theoretical models and concordance-based approaches to adherence behaviour in BD. Research over the past two decades has further endorsed the critical role of patients' attitudes and beliefs regarding medications, the importance of a collaborative treatment-alliance, the influence of the family, and the significance of other patient-related factors such as knowledge, stigma, patient satisfaction and access to treatment in determining non-adherence in BD. Though simply moving from an illness-centred to a patientcentred approach is unlikely to solve the problem of nonadherence in BD, such an approach is more likely to lead to a better understanding of non-ad

关键词： Non-adherence Bipolar disorder Attitudes Health-beliefs Treatment-alliance familial influences Knowledge Stigma

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与家庭 adenomatous polyposis coli 联系的 Hepatocellular 腺瘤

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World Journal of Hepatology 2012年第11期4卷 322-326页

作者： Keisuke Inaba Takanori Sakaguchi Kiyotaka Kurachi Hiroki Mori Toshio Nakamura Yasuo Takehara Satoshi Baba Masato Maekawa Haruhiko Sugimura Hiroyuki Konno Second Department of Surgery Hamamatsu University School of Medicine Hama-matsu 431-3192 Japan Department of Surgery Iwata City Hospital Iwata 438-8500 Japan Department of Pathology Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan Department of Radiology Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan Department of Laboratory Medicine Hamamatsu University School of Medicine Hamamatsu 431-3192 Japan

Hepatocellular adenoma (HCA) is a benign liver tumor that most frequently occurs in young women using oral contraceptives. We report a rare case of HCA in a 29 years old female with familial adenomatous polyposis (FAP). The first proband was her sister, who under-went a total colectomy and was genetically diagnosed as FAP. A tumor, 3.0 cm in diameter, was detected in the right lobe of the liver during a screening study for FAP. A colonoscopy and gastroendoscopy revealed numerous adenomatous polyps without carcinoma. The patient underwent a total colectomy and ileoanal anastomosis and hepatic posterior sectoriectomy. The pathological findings of the liver tumor were compatible with HCA. The resected specimen of the colon revealed multiple colonic adenomatous polyps. Examination of genetic alteration revealed a germ-line mutation of the adenomatous polyposis coli (APC) gene. Inactivation of the second APC allele was not found. Other genetic alterations in the hepatocyte nuclear factor 1 alpha and β-catenin gene, which are reported to be associated with HCA, were not detected. Although FAP is reported to be complicated with various neoplasias in extracolic organs, only six cases of HCA associated with FAP, including the present case, have been reported. Additional reports will establish the precise mechanisms of HCA development in FAP patients.

关键词： Hepatic adenoma familial adenomatous polyposis coli Extrahepatic manifestation Adenomatous polyposis coli gene Hepatocyte nuclear factor 1 alpha

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Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

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Open Journal of Genetics 2013年第2期3卷 50-58页

作者： Marina De Rosa Francesca Duraturo Raffaella Liccardo Paola Izzo Dipartimento di Medicina Molecolare e Biotecnologie Mediche and CEINGE Biotecnologie Avanzate Università di Napoli Federico II Naples Italy

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2%-5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, SMAD4, BMPR1A, and PTEN) and specific mutations have been identified. Molecular caracterization of inherited CRCs allows pre-symptomatic diagnosis identifying at-risk individuals and improving cancer surveillance. Adenomatous polyposis includes familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP). Hamartomatous polyposis comprises Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS) and “PTEN hamartoma tumour syndrome” (PHTS). MAP is an autosomal recessive condition, while all other disorders are inherited in an autosomal dominant manner. Differential dyagnosis could be very difficult between syndromes because of their phenotypic variability. Attenuated FAP, MAP and Lynch syndrome could be all associated with fewer numbers of adenomas (3-10 polyps), nevertheless, each syndrome has distinct cancer risks, characteristic clinical features, and separate genetic etiologies. Thus, differential diagnosis is essential for correct management of the specific disease. In our laboratory we set up a methodology for genetic tests of the colorectal polyposis syndrome. In these reviews we summarize the literature data and our experience about diagnosis, genetic tests and cancer risk assesment associated with colorectal polyposis. According to literature data, in our experience, there is a portion of analyzing patients that remain without identified mutation, after molecular screening of the specific gene involved in the pathogenesis of the disease. Since the sensibility of used techniques, such as DHPLC, MLPA and sequencing, is now very h

关键词： familial Adenomatous Polyposis (FAP) MUTYH-Associated Polyposis (MAP) Peutz-Jeghers Syndrome (PJS) PTEN Hamartoma Tumour Syndrome (PHTS)

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Cu,Zn SOD in Shandong families with amyotrophic lateral sclerosis

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泰山医学院学报 2004年第4期25卷 339-340页

作者： GUHong-yan ZHANGFeng-zhen JLANGHan-Ming SUNLing-yun ZAIJing ZHANGYuang-ying Dept.ofBiochemistry TaishanMedicalCollegeTaian271000China

Objective: To understand the relationship between Cu,Zn SOD and amyotrophic lateral sclerosis. Methods: The patients were clinically examined and classified according to the E1 Escorial Criteria, then we obtained blood samples from the patients for Cu,Zn SOD analysis and SOD assay. Amino acid analysis of Cu,Zn SOD were fully automated in instruments called amino acid analyzers. SOD assay was determined by cytochrome c method Results: Amino acid analysis of Cu,Zn SOD from patients with familial ALS was normal. The activity of Cu,Zn SOD was normal both in familial and sporadic form of ALS compared with normal person. Conclusion: Amyotrophic lateral sclerosis is not related to Cu,Zn SOD.

关键词： Cu, Zn SOD Sporadic amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis Enzyme activi-ty

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*** nephropathy

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外科研究与新技术 1992年第1期 47-53页

920150 Observation of effects of CordycepsSinensis in isolated perfused kidney of gen-tamicin nephrotoxic *** Jin (田劲),et *** Nephrol,Beijing 301st *** J Nephrol1991; 7(5): *** of energy metabolism and iontransporta... 详细信息

关键词： metabolism tubular Observation ANLL familial Qingdao interleukin regeneration staining stimulating

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A linkage study of schizophrenia candidate regions in a Chinese multiplex pedigree

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China Medical Abstracts(Internal Medicine) 2006年第4期23卷 230-231页

作者：唐劲松 Ment Health Instit 2nd Xiangya Hosp Centr South UnivChangsha 410011

Objective This study is to explore the molecular ge- netic relationship between chromosome regions and susceptibility genes for familial schizophrenia in Chinese Hah population. Methods A multiplex schizophrenia family including 5 schizophrenia patients and their 21 relatives was included. The patients fulfilled the Diagnostic and Statistical Manual of Mental Disorders 4th Edi-

关键词： schizophrenia multiplex familial linkage relatives chromosome candidate Manual susceptibility allele

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ENDOCRINOLOGY

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China Medical Abstracts(Internal Medicine) 1999年第3期16卷 142-146页

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Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13:A family report

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World Journal of Radiology 2017年第9期9卷 365-370页

作者： Gulgun Engin Serpil Eraslan Hülya Kayserili Yersu Kapran Haluk Akman Ali Akyuz Nuri Faruk Aykan Oncology Institute Istanbul University Medical Genetics Department Koc UniversitySchool of Medicine(KUSoM) Pathology Department Koc UniversitySchool of Medicine(KUSoM) International Hospital Acibadem University Acibadem International Hospital Istinye University Liv Hospital

familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.

关键词： Gastrointestinal stromal tumor familial Germline mutation Imatinib Response

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LIVER AND BILIARY SYSTEM

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China Medical Abstracts(Internal Medicine) 2000年第4期17卷 213-218页

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Desmoid Tumor of the Breast as a Manifestation of Gardner’s Syndrome in an Elderly Woman: A Case Report and Review of Literature

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Case Reports in Clinical Medicine 2018年第11期7卷 533-540页

作者： Olfa Zoukar Amel Khaskhoussy Sonia Hammami Sandra Zribi Awatef Hajjajji Anis Haddad Raja Faleh Maternity and Neonatology Center Monastir University Monastir Tunisia Department of Internal Medicine F Bourguiba University Hospital Monastir Tunisia

Desmoid tumor of the breast is an extremely rare entity. Histologically, it corresponds to a benign fibroblastic proliferation of a local evolution, with a high recurrence potential. We report the first case of elderly woman presented with desmoid-tumor of the breast as a manifestation of Gardner’s syndrome. A brief literature review was provided. We report the case of a 72-year-old woman who presented with five months history of painful and an exophytic mass of her left breast. She is known to have familial polyposis and had a total colectomy with Gardner’s syndrome. She had a history of osteomas of the maxilla. On clinical examination, there was an exophytic painless mass, on the upper medial quadrant of the breast. She had also lipoma in the left leg and pigmented skin lesions in legs. Her mammograms showed a suspicious stellar image. A computed tomography scan showed an ovoid lesion. Excision of the lesion was performed. Histopathology confirms a desmoid-tumor of the breast. Evolution was marked by lesion recurrence. In conclusion, desmoid tumor of the breast is rare, non-metastatic but locally aggressive. Clinical expression is often nonspecific. Treatment remains controversial;surgical excision is the treatment of choice.

关键词： Desmoid-Tumor Gardner’s Syndrome Elderly Breast familial Polyposis

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