Mammographic Density – a Risk Factor for Breast Cancer

Fait T., Žižka Z.

Department of Gynaecology and Obstetrics, Charles University in Prague, First Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic

Key words: Mammographic density – Breast cancer risk – Tibolone – Hormone replacement therapy

Abstract: The mammographic density belongs to risk factors for breast cancer. The increased density enhances the risk of interval breast cancers and it also increases the number of false negative as well as false positive results of the mammography. The increase in the mammographic density during the hormone replacement therapy is not identical with the enhanced mammographic density, which is a risk factor for the breast cancer. The mammographic density associated with the hormonal treatment recedes within 14 days after its withdrawal. The high mammographic density is not contraindication of the hormonal treatment, but it results in a preference of tibolone and estrogen replacement therapy over the estrogen-gestagen treatment.

Mailing Address: Tomáš Fait, MD., Department of Gynaecology and Obstetric, General Teaching Hospital, Apolinářská 18, 128 51 Prague 2, Czech Republic; Phone: +420 603 910 473; e-mail: tfait(zavináč)seznam.cz

Genetic Polymorphisms as a Risk Factor for Anorexia Nervosa

Sulek S.¹, Lacinová Z.², Dolinková M.², Haluzík M.²

¹Department of Paediatrics and Adolescent Medicine, Charles University in Prague, First Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic;

²Third Medical Department, Charles University in Prague, First Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic

Key words: Anorexia nervosa – Polymorphism – Serotonine – COMT – Adipokines

Abstract: Anorexia nervosa (AN) is an eating disorder affecting mostly young people which could lead to serious complications and consequences. There are ethnical and gender differences in the incidence and prevalence of AN, but the influence of urbanization has not yet been proved. The relationship of genetic background to the risk of AN is still being investigated. In this review we summarize current knowledge about the relationship between AN and polymorphism of substances known to be regulating eating behaviour or metabolic pathways e.g. serotonin, ghrelin, catechol-O-methyl transferase, neuropeptide Y, brain-derived neurotrophic factor and adipokines.

Mailing address: Stepan Sulek, MD, Department of Paediatrics and Adolescent Medicine of the First Faculty of Medicine and General Teaching Hospital, Ke Karlovu 2, 121 09 Prague 2, Czech Republic, Phone: +420 224 967 798; e-mail: stepan.sulek(zavináč)gmail.com

Weight, Body Composition and Fat Distribution Changes of Czech Women in the Different Reproductive Phases: a Longitudinal Study

Kosková I.¹, Petrásek R.², Vondra K.³, Skibová J.²

¹Department of Anthropology, Charles University in Prague,Faculty of Science, Czech Republic;

²Institute of Clinical and Experimental Medicine, Prague, Czech Republic;

³Institute of Endocrinology, Prague, Czech Republic

Key words: Anthropometric measurement – Body composition – Fat distribution – Skinfolds – Waist circumference – WHR

Abstract: Women tend to gain weight with age, especially fat mass which shows also regional changes. A cross-sectional study was done on 213 Czech women with the conclusion that there is a progressive weight increase up to the menopause, an increase in absolute and relative fat contribution and fat centralisation up to the postmenopause and these changes seemed to occur even before the weight increase occurs. The same cohort was examined the same way after 3 years for further analysis. The aim was the assessment of weight gain, body composition and fat distribution changes in four age groups representing the reproductive phases in Czech women in 3-year period. 146 healthy Czech women aged 20–65 were classified according to four reproductive phases: fully reproductive women (n=34, mean age 26.96, SD 4.47), pre-menopausal women (n=34, mean age 42.23, SD 2.78), menopausal women (n=45, mean age 51.56, SD 2.61) and postmenopausal women (n=33, mean age 59.55, SD 2.82). Body weight, body composition and fat distribution were determined using classical anthropometric methods in 2000 and 2003. BMI increased significantly in all the groups except for the premenopausal group and was the greatest in the menopausal group. Increase in fat percentage was significant in the fully reproductive (p<0.001) and menopausal women (p<0.001), there was no change in the postmenopausal group. Waist, WHR, hip and subgluteal thigh circumference increase significantly in the menopausal group (p<0.01, p<0.05, p<0.05, p<0.001 respectively). The highest mean values of waist, WHR and even abdominal circumference remain in the postmenopausal group. Changes of all 14 skinfolds and the sum of the peripheral and central

skinfolds are shown; the sum of peripheral skinfolds shows the same values at the end of the study while the sum of central skinfolds increases from the fully reproductive to the postmenopausal women. These results permit us to state the following conclusions: the greatest weight gain in the menopausal group suggests weight gain acceleration around menopause. Body fat mass increase terminates in the early postmenopause. Fat centralisation was proved in the menopausal women with still preserved fat deposition in the gluteofemoral area, which was also

apparent in the postmenopausal group, however, the postmenopausal women show the highest values of central fat indicators.

Mailing Address: Irena Kosková, MD., Jihovýchodní VII 13, 141 00 Prague 4, Czech Republic, Phone:+420 272 762 983; Fax: +420 272 762 983; e-mail: irenako(zavináč)quick.cz

Sensitivity and Specificity of Combined Perimetric and Volumetric Evaluations in the Diagnosis of Arm Lymphedema

Godoy J. M. P.¹, Silva S. H.², Godoy M. F. G.¹

¹Graduation and Postgraduation Courses of the Medicine School, São José do Rio Preto (FAMERP), São Paulo, Brazil;

²Medicine School São José do Rio Preto, (FAMERP), São Paulo, and the Municipal Further Education College of Catanduva, Brazil;

Key words: Lymphedema – Upper limbs – Perimetry – Volumetry – Diagnosis

Abstract: The objective of the current study was to evaluate the sensitivity and the specificity of perimetry combined with volumetry in the treatment of lymphedema. Ninety women, who had been submitted to breast cancer surgery, were randomly selected in the Government Healthcare Clinic for this study. Only patients who underwent surgical treatment of breast cancer with some degree of lymphadenectomy were included in the study cohort. Individuals with active disease, whether local or otherwise, functional alterations of the upper limbs before breast cancer surgery were not included. The following possibilities were considered: 1 – the perimetry evaluation was considered positive when the difference between the affected and unaffected sides was ł 2 cm for any one of the seven measurements and volumetry was ł 100 mL; 2 – perimetry ł 2 cm and

volumetry ł 200 mL; 3 – a difference > 10% between the two limbs in volumetry and perimetry. Prevalence, sensitivity, specificity, positive predictive value, negative predictive value and accuracy were evaluated statistically with an alpha error of  5% considered acceptable (p-value < 0.05). The mean age of the women was 54.8 ± 11.7 years. The sensitivity, negative predictive value and accuracy were higher using perimetry when a volume ł 2 cm were considered. The specificity and positive predictive values were better when the difference was greater than 10% between the two limbs by both perimetry and volumetry. Perimetry is a reliable method in the diagnosis of lymphedema when differences > 2 cm between the two limbs should be considered.

Mailing Address: Associated Professor José Maria Pereira de Godoy, MD., PhD., Medicine School, Rua Floriano Peixoto, São José do Rio Preto, SP – Brazil; Zip code: 15010-02; e-mail: godoyjmp(zavináč)riopreto.com.br

Frequency of Micronuclei in Mexicans with Type 2 Diabetes Mellitus

Martínez-Pérez L. M.^1,2, Cerda-Flores R. M.^1,2,C. Gallegos-Cabriales E. C.², Dávila-Rodríguez M. I.¹, Ibarra-Costilla E.¹, Cortés-Gutiérrez E. I.¹

¹División de Genética, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, Mexico;

²Facultad de Enfermería, Universidad Autónoma de Nuevo León, Monterrey, Mexico

Key words: Diabetes mellitus type 2 – Chromosomal damage – Micronuclei – Cancer

Abstract: A case–control study was carried out on a sample of 15 Mexican patients (40–56 years old) with type 2 diabetes mellitus (DM2) that had developed five years and been treated with oral hypoglycemic drugs (sulfonylurea and/or metformin), with no microvascular or macrovascular complications. The aim of this study was to assess whether Mexican patients with DM2 differed from a control group in the frequency of micronuclei (MN). A control group of 10 individuals without DM2 (38–54 years old) was included. The frequency of MN in binucleated lymphocytes was analyzed according to the Fenech criteria. At time being this investigation should be considered as a preliminary study in which the influence of potential confounders cannot be adequately assessed. However, our result showed a MN frequency significant increase in DM2 patients (6.53 ± 2.03 per 1000 cells) relative to that of the control group (3.10 ± 1.79 per 1000 cells). MN may constitute a possible component of a panel of biomarkers for the risk of DM2. This cytogenetic damage also indicates an enhanced risk of cancer, as has been found in previous studies. These results should be validated by other researchers.

Mailing Address: Elva I. Cortés-Gutiérrez, MD., Centro de investigación Biomédica del Noreste, IMSS, Administración de Correos No 4. Apartado postal 20, C. P. 64720 Monterrey, N. L. México; Phone/Fax: +52 81 81 904035; e-mail:elvacortes(zavináč)cibinmty.net

Complicated Decisionmaking in Indications for Auditory Brainstem Implant (ABI) in a Patient with Neurofibromatosis 2

Skřivan J.1, Betka J.1, Zvěřina E.1, Vrabec P.1, Chovanec M.1, Borský I.2

1Department of Otorhinolaryngology, Head and Neck Surgery, Charles University in Prague, First Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic;

2Magnetic Resonance Imaging Dr. Magnet, Bratislava, Slovak Republic

Key words: Vestibular schwannoma – Neurosurgery – Auditory – Brainstem – Implant – Haring

Abstract: A case of an accidental finding of neurofibromatosis 2 in a practically asymptomatic patient is described. Various therapeutic modalities, including restoration of hearing after vestibular schwannoma surgery with an auditory brainstem implant (ABI), are considered.

Mailing Address: Jiří Skřivan, MD., PhD., Department of Otorhinolaryngology, Head and Neck Surgery, The First Faculty of Medicine and Faculty Hospital Motol, V Úvalu 84, 150 06, Prague 5, Czech Republic; Phone: +420 224 434 300; Fax: +420 224 434 319; e-mail: Jiri.Skrivan(zavináč)fnmotol.cz

X-linked Dominant Chondrodysplasia Punctata (CDPX2): Multisystemic Impact of the Defect in Cholesterol Biosynthesis

Martanová H.¹, Křepelová A^.4, Baxová A⁴, Hansíková H.⁵, Čánský Z.⁶, Kvapil M.², Gregor V.³, Magner M.⁵, Zeman J.^5,6

¹Department of Neonatology, Thomayer’s Hospital, Prague Czech Republic;

²Department of Gynaecology, Thomayer’s Hospital, Prague Czech Republic;

³Department of Medical Genetics, Thomayer’s Hospital, Prague Czech Republic;

⁴Institute of Biology, Charles University in Prague, Second Faculty of Medicine, Prague, Czech Republic;

⁵Department of Paediatrics, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic;

⁶Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

Key words: X-linked dominant chondrodysplasia punctata – CDPX2 – EBP – Ichthyosis – Hypocholesterolaemia – 8-dehydrocholesterol

Abstract: Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, craniofacial dysmorphy, cataracts, cutaneous anomalies including

ichthyosis, asymmetric rhizomesomelic shortness of the limbs, deformity of the spine, club foot, polydactyly, syndactyly, epiphyseal stippling and low cholesterol (2.29 mmol/l). Spectrophotometric analysis revealed the presence of abnormal pattern of cholesterol precursors in blood. The increased level of 8-dehydrocholesterol (42.2 μmol/l, controls < 1) and 7-dehydrocholesterol (25.5 μmol/l, controls < 1) recognised with GC/MS suggested an endogenous

defect of cholesterol biosynthesis. The diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) was confirmed by the molecular analysis. Sequencing of the EBP gene encoding for 3β-hydroxysteroid-Δ⁸, Δ⁷-isomerase revealed the presence of “de novo” heterozygous mutation c.327C>T (p.Arg110Stop). High cholesterol diet normalized cholesterol level (3.28 mmol/l) but it had no influence on the unfavourable prognosis of the disease. Low level of cholesterol with abnormal sterol profile in a child with congenital development

anomalies represent an important laboratory marker suggesting an inherited defect of cholesterol biosynthesis.

Mailing Address: Professor Jiří Zeman, MD., DSc., Department of Paediatrics,

First Faculty of Medicine, Ke Karlovu 2, 121 09 Prague 2, Czech Republic;

e-mail: jzem(zavináč)lf1.cuni.cz

Multidisciplinary Orofacial Therapy after Suicidal Treatment: Casuistical Report

Charvát J.¹, Roubíčková J.², Janík V.³, Dostálová T.⁴, Pafko P.⁵, Bartoňová M.¹, Seydlová M.⁴

¹Department of Stomatology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic;

²Department of Otorhinolaryngology, Charles University in Prague, Second Faculty of Medicine, Prague, Czech Republic;

³Department of Radiological Techniques, Charles University in Prague, Second Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic;

⁴Department of Paediatric Stomatology Charles University in Prague, Second Faculty of Medicine, Prague, Czech Republic;

⁵Third Surgical Department, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

Key words: Swallow – Oral stimulus – Palatal augmentation prosthesis

Abstract: Cutting wounds and bruises in the area of neck are very specific. The overall rehabilitation of these conditions is difficult and often needs to be combined with special and customised orofacial prostheses. This case-study reports special multidisciplinary treatment. The surgical diagnosis was: a cutting wound on a neck caused by a chain saw and disruption of oropharynx. Due to contusion of the tongue root and contusion of both hypoglossal nerves,

a complete paralysis of tongue occurred. The tongue was immobile and the patient has problems with swallowing fluids. A special palatal prosthesis was made to reduce the space between the tongue and the palate. The fluoroscopically monitored swallowing action helps to receive optimal patient’s rehabilitation.

Mailing Address: Professor Tatjana Dostálová, MD., DSc., MBA, Second Faculty of Medicine, Department of Paediatric Stomatology, V Úvalu 84, 150 06 Prague 5, Czech Republic; Phone: +420 224 433 200; e-mail: tatjana.dostalova(zavináč)fnmotol.cz

My Years with Professor Jiří Duchoň, MD., DSc.

Borovanský J.

Institute of Biochemistry and Experimental Oncology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

Mailing address: Professor Jan Borovanský, MD., PhD., Institute of Biochemistry and Experimental Oncology, U Nemocnice 5, 128 53 Prague 2, Czech Republic; e-mail: jan.borovansky(zavináč)lf1.cuni.cz

Professor Jozef Maršala MD., DSc. has gone

Staff of the Institute of Neurobiology of the SAS1, Bureš J.2, Mourek J.3, Hach J.4

1Institute of Neurobiology, Slovak Academy of Science, Košice, Slovak Republic;

2Institute of Physiology, Academy of Sciences of the Czech Republic, v.v.i., Prague, Czech Republic;

3Institute of Physiology, Charles University in Prague, First Faculty of Medicine, Prague, and Department of Clinical Subjects , University of South Bohemia in České Budějovice, Faculty of Health and Social Studies, České Budějovice, Czech Republic;

4Institute of Histology and Embryology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

Mailing Addresses: Institute of Neurobiology, Slovak Academy of Science, Šoltésovej 4, 04 001 Košice, Slovak Republic;

Jan Bureš, MD., DSc., Institute of Physiology, Academy of Sciences of the Czech Republic, v.v.i., Vídeňská 1083, 142 20 Prague 4, Czech Republic; Phone: +420 296 442 539; e-mail: bures(zavináč)biomed.cas.cz

Professor Jindřich Mourek, MD., DSc., First Faculty of Medicine, Institute of Physiology, Albertov 5, 128 00 Prague 2, Czech Republic, and University of South Bohemia in České Budějovice, Faculty of Health and Social Studies, Department of Clinical Subjects, B. Němcové 54, 370 87 České Budějovice, Czech Republic;

Assoc. Professor Petr Hach, MD., PhD., Institute of Histology and Embryology, First Faculty of Medicine, Albertov 4, 128 00 Prague 2, Czech Republic; Phone: +420 224 918 786; e-mail: petr.hach(zavináč)lf1.cuni.cz