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Search Results: 1 - 10 of 550 matches for " HEREDITARY "
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Bioethics and the Law in Familial Cancer, a Practical Approach  [PDF]
Azua-Romeo Javier
Open Journal of Pathology (OJPathology) , 2012, DOI: 10.4236/ojpathology.2012.22009
Abstract: Hereditary cancers are the result of germline mutations in specific genes that increase susceptibility to cancer. This susceptibility is spread among family members according to different patterns of inheritance. Inherited susceptibility to cancer, does not imply the certainty of developing it in all cases. In this sense many questions have come out in recent years, not only in the medical sense but also in the field of bioethics and the law.
The prevalence of cognitive dysfunction in the estonian population of the hereditary spastic paraplegia  [PDF]
Liina Vahter, Mark Braschinsky, Sulev Haldre, Pille Kool, Tiina Talvik, Katrin Gross-Paju
World Journal of Neuroscience (WJNS) , 2012, DOI: 10.4236/wjns.2012.22013
Abstract: The hereditary spastic paraplegias (HSPs) are neu-rodegenerative disorders of the motor system. The information about the prevalence of the cognitive dysfunction in HSP is inconsistent. The aim of the study was to describe the prevalence of cognitive dysfunction and the cognitive profiles of persons with HSP (pwHSP) compared to healthy controls. Subjects. Participating in the cognition study were 48 persons with HSP from the epidemiological study and 48 healthy controls. Of those with HSP, 81% (39/48) had pure and 19% (9/48) had complex forms. Among pwHSP, 20.8% (10/48) had pathogenic and 14.6% (7/48) had non-pathogenic mutations in the SPAST gene. There were no mutations detected in 31 persons with the SPAST gene. Methods. Neuropsychological test battery, MMSE Results. The results of the neuropsychological tests were significantly lower in persons with HSP than in the controls (Bonferroni correction, p < 0.00625). There were statistically significant differences in subtests measuring consistent long term retrieval (p < 0.001), later recall (p = 0.004) in verbal memory and symbol digit modalities (p = 0.0015). Five persons with HSP had an MMSE score of 24 or less. Conclusions. Our results demonstrate that cognitive dysfunction is present in 16.7 to 33.3% of persons with HSP, depending on the criteria applied. There was cognitive dysfunction in 30% of persons with a known pathogenic mutation in the SPAST gene. The most frequently damaged functions in HSP are consistent long term retrieval and later recall in verbal memory and symbol digit modalities tests that discriminate between controls and pwHSP with dysfunction (1.5 SD) in three or more domains. Dementia in HSP is rare.
Hypersensitivity to Aspirin as a Factor for Poor Control in Hereditary Angioedema  [PDF]
Carlos Alberto García-López, María Eugenia Vargas-Cama?o, Emmanuel Alcázar-Casarín, Guillermo Quintana Mexiac, Pablo León Gómez, Mario Alberto Ynga-Durand, Benjamín López-Velázquez, María Isabel Castrejón-Vázquez
Journal of Biosciences and Medicines (JBM) , 2017, DOI: 10.4236/jbm.2017.53005
Abstract: Background: Hereditary angioedema (HAE) is a primary immunodeficiency disorder characterized by C1 complement inhibitor deficiency and unregulated activation of complement. Aspirin hypersensitivity is related to an increase in the amount of leukotrienes with eosinophil and mast cell activation and increased levels of glandular kallikrein with upregulated local conversion of bradykinin. Both conditions can be present in the same patient. Objectives: We present five patients with HAE; they were all being treated in similar ways according to the therapeuthic options available in our institute (danazol). However, three of them had recurrent episodes of angioedema; in these cases, it was identified aspirin hypersensitivity as a cause of poor disease control. A review of the literature is included. Case Presentation: We present the cases of four females and one male (age range 21 - 58 years) with type I HAE. Subjects were all ISSSTE beneficiaries (state workers) treated at the National Medical Center “20 de Noviembre”. Aspirin hypersensitivity was identified in three patients. Elimination of NSAIDs along with dietary elimination of high salicylate-containing foods improved control of angioedema crisis (severe and/ or recurrent episodes). Discussion: Aspirin hypersensitivity was identified as a factor for poor control in our patients with HAE. Such cases improved with dietary elimination of high salicylate-containing foods and avoidance of NSAIDs. Conclusions: This is the first report of patients with HAE and aspirin hypersensitivity as a cause of poor control. We recommend a deliberate search of these comorbidities, especially in cases of poor disease control. Further studies are needed to continue the investigation on this topic.
Hereditary sensory and autonomic neuropathy type I
Mittal R,Shivali
Indian Journal of Dermatology, Venereology and Leprology , 1997,
Abstract: Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.
Is the Coexistence of Hereditary Elliptocytosis with Osler-Weber-Rendu Syndrome Coincidental?
?mer Akyürek,Erdem Akbal,Fahri Güne?,Mustafa ?zbek
Erciyes Medical Journal , 2012,
Abstract: Hereditary haemorrhagic telangiectasia (HHT) and hereditary elliptocytosis (HE) are genetic diseases that may cause anaemia and show hereditary inheritance. Several mutations have been defined which may cause the occurrence of both diseases. However, there is no study that shows if there is or is not a common mutation for these two diseases. In this article, a case in which recurrent spontaneous epistaxis, mucocutaneous telangiectasia and elliptocytosis in the peripheral smear were determined during an evaluation for anaemia. Some family members of this case were found to be positive for elliptocytosis and haemorrhagic telangiectasia. No similar reports have been published in the literature.
Heredity of Lower Separation Axioms on Function Spaces  [PDF]
Njuguna E. Muturi
Advances in Pure Mathematics (APM) , 2014, DOI: 10.4236/apm.2014.43014

The set of continuous functions from topological space Y to topological space Z endowed with a topology forms the function space. For A subset of Y, the set of continuous functions from the space A to the space Z forms the underlying function space with an induced topology. The function space has properties of topological space dependent on the properties of the space Z, such as the T0, T1, T2 and T3 separation axioms. In this paper, we show that the underlying function space inherits the T0, T1, T2 and T3 separation axioms from the function space, and that these separation axioms are hereditary on function spaces.

Evaluation of the Therapeutic Response and Improvement in the Quality of Life of the Patient with Darier Disease to Acitretin through an Analogy between Close Relatives  [PDF]
Thiago Sande Miguel, Mateus de Oliveira Reis, Bruno Fonseca dos Santos, Aline da Silva Rocha, Nayrton Kalys Cruz dos Anjos, Lívia Cristina de Melo Pino, Daniel Almeida da Costa
Journal of Biosciences and Medicines (JBM) , 2017, DOI: 10.4236/jbm.2017.58004
Abstract: Darier disease (DD), also known as follicular keratosis, is a rare autosomal dominant hereditary acantholytic dermatosis caused by a mutation in the ATP2A2 gene. Skin lesions are characterized by persistent confluent papules, preferentially located on the seborrheic areas of the face, chest and back. The hands, feet and nails are also commonly affected. DD has a chronic course with frequent relapses. Their treatment is often difficult and unsatisfactory. We present the case of a 54-year-old male with a history of keratotic papules with a brownish-black color, with a foul-smelling, pruritic and ardent appearance on the back and trunk, since the age of 19, which worsen in the summer. His 27-year-old daughter has a similar picture with her skin lesions started at age of 17 in the region below the breast, back, trunk, feet and hands. After the skin biopsy, the diagnosis was confirmed and acitretin 30 mg/day was instituted. The importance of this case report is to alert health professionals that the diagnosis of DD should be considered in family members of patients, especially those in the first degree, and also in patients with follicular keratolytic dermatoses, being an important differential diagnosis of this group of patients diseases.
Hereditary Colorectal Cancer (CRC) Program in Latvia
Arvids Irmejs, Andris Gardovskis, Viktors Borosenko, Marianna Bitina, Diana Aigare, Grzegorz Kurzawski, Janina Suchy, Bohdan Górski, Janis Gardovskis
Hereditary Cancer in Clinical Practice , 2003, DOI: 10.1186/1897-4287-1-1-49
Abstract: From 02/1999-09/2002 in several hospitals in Latvia cancer family histories were collected from 865 patients with CRC. In families suspected of having a history consistent with a hereditary colorectal cancer syndrome, DNA testing for MLH1, MSH2 and MSH6 genes was performed. In addition immunohistochemical (IH) examination of the normal and cancer tissue from large bowel tumors for MSH2 and MSH6 protein expression was performed prior to DNA analysis.From the 865 CRC cases only 3 (0.35%) pedigrees fulfilled the Amsterdam II criteria of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) and 15 cases (1.73%) were suspected of HNPCC. In 69 cases (8%) with a cancer family aggregation (CFA) were identified. Thus far 27 IH analyses have been performed and in 3 cancers homogenous lack of MSH2 or MSH6 protein expression was found. In one of these cases a mutation in MSH6 was identified. In 18 patients suspected of HNPCC or of matching the Amsterdam II criteria, denaturing high performance liquid chromatography (DHPLC) followed by DNA sequencing of any heteroduplexes of the 35 exons comprising both MLH1 and MSH2 was performed revealing 3 mutations.For all of kindreds diagnosed definitively or with a high probability of being an HNPCC family appropriate recommendations concerning prophylactic measures, surveillance and treatment were provided in written form.Existing pedigree/clinical data suggest that in Latvia the frequency of HNPCC is around 2% of consecutive colorectal cancer patients. It is crucial that genetic counseling is an integral part of cancer family syndrome management.During the last decade dramatic changes have taken place in the diagnosis and management of familial/hereditary colorectal cancer syndromes. New developments are offering possibilities of early cancer detection, improvements in treatment and preventive measures for the affected and persons at risk of disease. Hereditary cancer management has developed as an essential part of modern oncology treatment
Genetic and Preventive Services for Hereditary Breast and Ovarian Cancer in the Czech Republic
Lenka Foretova, Katarina Petrakova, Marketa Palacova, Renata Kalabova, Marie Navratilova, Miroslava Lukesova, Petra Vasickova, Eva Machackova, Zdenek Kleibl, Petr Pohlreich
Hereditary Cancer in Clinical Practice , 2006, DOI: 10.1186/1897-4287-4-1-3
Abstract: The incidence of breast cancer has doubled over the past twenty years in the Czech Republic. In 5-10% of breast cancers, hereditary factors may be a cause of young onset, bilateral breast or ovarian cancer and familial accumulation of the disease. Genetic testing of BRCA1 and BRCA2 predisposition genes has been available in the Czech Republic since 1997 in two major molecular genetic laboratories - one in Brno (Masaryk Memorial Cancer Institute, MMCI) and the other in Prague (Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University).Genetic counselling services for hereditary cancer were started at MMCI in Brno in 1997. Currently the department comprises a genetic clinic and a molecular genetic laboratory. The laboratory provides testing of BRCA1 and BRCA2 genes for about 65% of high-risk patients tested in the Czech Republic. Counselling and genetic testing is covered by health insurance and the laboratory is accredited within the institute and undergoes EMQN quality testing annually. Eighty percent of tested patients are from the Moravian region (eastern) of the Czech Republic and 20% from the Bohemian (western) region. The second major laboratory in Prague is part of the First Faculty of Medicine in Charles University. The testing in this setting is covered by grants and the laboratory undergoes EMQN quality assessment every year. All patients tested are from the Bohemian region (mostly from in and around Prague) of the Czech Republic. Recently, molecular genetic testing of BRCA1 and BRCA2 has begun in two private laboratories where individual cases are analysed.Genetic counselling of high-risk patients or their families is now offered by medical geneticists working in 10 public genetic centres and in several private centres (Fig. 1). For persons wishing to be tested a counselling session prior to testing is provided and each patient who proceeds with testing must sign an informed consent document. Each patient receives
Clinical, Molecular and Geographical Features of Hereditary Breast/Ovarian Cancer in Latvia
Andris Gardovskis, Arvids Irmejs, Edvins Miklasevics, Viktors Borosenko, Marianna Bitina, Inga Melbarde-Gorkusa, Andrejs Vanags, Grzegorz Kurzawski, Janina Suchy, Bohdan Górski, Janis Gardovskis
Hereditary Cancer in Clinical Practice , 2005, DOI: 10.1186/1897-4287-3-2-71
Abstract: In 2002-2004 in two Latvian oncology hospitals (Liep?ja Oncology Hospital and Daugavpils Oncology Hospital) cancer family histories were collected from 287 consecutive patients with breast and ovarian cancer. In all cases, when it was possible to obtain the blood sample, DNA testing for founder mutations in the BRCA1 gene was performed.Among 287 family cancer histories analysed in 8 (2.8%) cases criteria of hereditary breast cancer (HBC) were fulfilled and in 5 (1.7%) cases hereditary breast and ovarian cancer (HBOC) was diagnosed. In 50 (17.4%) cases we have suspicion of hereditary breast cancer (HBC susp.) and in 8 (2.8%) cases - suspicion of hereditary breast and ovarian cancer (HBOC susp.). We have one (0.3%) case with hereditary ovarian cancer (HOC). DNA testing of founder mutations in the BRCA1 gene (exon 20 (5382 insC) exon 5 (300T/G), exon 11, 17 (4153delA)) for 178/287 (62%) patients was performed. In 9/287 (4.9%) cases we found a mutation in the BRCA1 gene. 4 mutations were detected in exon 11, 17 (4153delA) and 4 mutations in exon 20 (5382 insC) and 1 in exon 5.Existing pedigree/clinical data suggest that in Latvia the clinical frequency of hereditary breast and ovarian cancer is around 5% of consecutive breast and ovarian cancer patients and suspicion of the syndrome is observed in another 20% of cases. Frequency of BRCA1 founder mutations is 5% of all consecutive breast and ovarian cancers. Considerable geographical differences in the clinical and molecular frequency of hereditary breast ovarian cancer have been observed in Latvia.The annual worldwide incidence of breast cancer is approximately 1,151,300 cases and its worldwide mortality incidence is approximately 410,700 cases [globocan].The breast cancer is the most frequent cancer among women in Latvia. There are approximately 900 new breast cancer cases diagnosed every year in Latvia and there were 916 new cases detected in 2003. Breast cancer mortality in Latvia was 421 cases in 2002 [Cancer Patien
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