Biomedical subjects

T Hlavatý

Publications and source records attributed to T Hlavatý.

5 recordsLinked to original sources

PubMed2006

Assay design and optimization of mutant-enriched PCR based method for detection of K-ras gene mutations in pancreatic carcinoma.

The aim of our work was to develop a fast, reliable and sensitive PCR method to detect K-ras mutations in various clinical samples. There is a need for an unimpeachable method for early diagnosis and/or screening of pancreatic cancer (PC). We optimized and subsequently analyzed four methods based on mutant-enriched PCR for the sensitivity, cost and time expense. Using the selected optimal method we examined codon 12 K- ras mutations in a study population of 59 patients with upper GIT malignancies. Reliability of the genotyping was confirmed by sequencing. By using the best of our modified mutant-enriched PCR methods we achieved sensitivity of 1:1 x 10(5). Further studies are necessary to determine the optimal biological material sampling in PC.

Adenocarcinoma↗

PubMed2004

[Families at risk of colon cancer I. Familial adenomatous polyposis].

Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant inherited disease characterised by a diffuse polyposis of the colon and rectum leading to inevitable colorectal cancer by 50 years. The purpose of this review is to summarize the current knowledge regarding this entity with the focus on recent knowledge on genetic testing, surveillance guidelines and therapy of FAP. Available medical databases were searched from 1998 to May 2003 using keywords "familial adenomatous polyposis", followed by further search for particular issues. Additional articles were identified through the reference sections of retrieved articles and from personal archives of authors. Approximately 300 papers on FAP are published yearly. There has been a large progress in our understanding of the genetics of FAP leading to the development of genetic counselling, reliable genetic tests and screening strategies. There is accumulating evidence about genotype-phenotype associations with direct clinical implications. Our knowledge about the extracolonic manifestations is also expanding resulting in new surveillance and treatment strategies for FAP patients after proctocolectomy. Although still representing a serious burden for affected patients and their families, the research of last decades together with national registers improved the life expectancy and the quality of life of FAP patients dramatically. Further research in the area of molecular genetics, genetic testing and emerging gene therapy for FAP patients is to be expected in the near future.

Adenomatous Polyposis Coli↗

PubMed2004

[Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma].

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterised by almost inevitable development of colorectal carcinoma and/or endometrium and other defined malignancies in affected individuals. HNPCC is caused by a germline mutation in a mismatch repair genes (MMR). The purpose of this review is to summarize current knowledge regarding HNPCC with the focus on recent data on genetic testing, surveillance guidelines and therapy. Available medical databases were searched from 1998 to May 2003 using the keywords "hereditary nonpolyposis colorectal cancer", followed by further search for particular issues. Additional articles were identified through the reference sections of retrieved articles and from personal archive of authors. Approximately 200 papers on HNPCC are published yearly. The major progress in recent research of HNPCC has been made in the area of genetic testing and clinical surveillance. Current guidelines recommend identification of microsatelite instability in a tumour of affected family member followed by germline testing in this person. Once mutation in particular MMR gene is found, screening of all at risk members is recommended. Alternative approach suggests direct germline testing in unaffected family member provided that the testing in affected member is not possible. Annual colonoscopy examinations starting at 20-25 years and gyneacological examination starting at 30-35 years are recommended in all family members at risk. Recent advances in genetic tests and surveillance strategies result in decreased mortality of HNPCC patient.

Colorectal Neoplasms, Hereditary Nonpolyposis↗

PubMed2002

[Detection, identification and visualization of the recurrent laryngeal nerve during thyroidectomy--still a surgical dilemma].

OBJECTIVE: Based on their on experience the authors express their opinion on routine detection and visualization of the NLR during radical surgery of the thyroid gland. They describe standard and alternative steps of surgery leading to protection of the recurrent nerve. MATERIAL AND METHODS: The authors evaluated a group of 735 patients operated during the last thirty nine months which comprised 87% total thyroidectomies, 11.6% total lobectomies, the remainder were almost total operations. The number of visualized nerves was 1367. RESULTS: Unilateral temporary damage of the NLR leading to temporary pareses of the vocal cords was recorded in 19 patients, i.e. 1.39%, bilateral transient paresis in one case, i.e. 0.07%. Permanent damage of one vocal cord after severing of the NLR occurred in 11 patients, i.e. 0.8%, bilateral lesions of the vocal cords were not recorded. CONCLUSION: There are no extensive statistics of thyroid operations without reports on damage of the NLR. With the increasing number of radical operations of the gland also the number of departments increased which recommend unequivocally to seek and visualize the NLR. The authors results support this point of view. They use most frequently a modification of Wang's method and consider as the smallest extent of visualization of the NLR the distance between the branching of the inferior thyroid artery and the entry of the NLR into the larynx.

Humans↗

PubMed2001

[Primary retroperitoneal seminoma].

The case-history presents a case of a rare retroperitoneal tumour--primary retroperitoneal classical seminoma. This type of tumour accounts for half the extragonadal germinal tumours. From the clinical aspect this group is important as in addition to surgery it can be successfully treated by chemotherapy and radiation. The clinical findings in the authors' patient led to the diagnosis of a retroperitoneal tumour and after repeated examinations the authors concluded on the presence of some form of malignant mesenchymal tumour. A more aggressive surgical procedure implies radical removal of the tumour, and treatment was, based on the final histological diagnosis, supplemented by chemotherapy. Despite the favourable diagnosis of seminomas, we have to foresee in case of a primary tumour in the retroperitoneum a poorer prognosis (sometimes by as much as 50%) and despite all conclusions attention should be devoted to a possible late development a testicular tumour.

Humans↗