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1.
Orv Hetil ; 163(27): 1074-1081, 2022 Jul 03.
Article in Hungarian | MEDLINE | ID: mdl-35895468

ABSTRACT

Introduction: According to the recommendation of the American Thyroid Association 2015 guideline, the treatment of 1-4 cm (T1b-2) low-risk differentiated thyroid cancer (DTC) is lobectomy without radioiodine therapy. Objective: Retrospective analysis of multifocality in surgical and histological data of T1-2 patients living on moderate iodine intake. Methods: Analysis of the pathological characterisation of 81 low-risk (T1-2) DTC patients who underwent total thy-roidectomy. Patients were treated at Flor Ferenc Hospital, Kistarcsa, Hungary, between 2013 and 2019. Results: 64 patients had T1, while 17 patients had T2 status. 65/81 (80.2%) patients had papillary, and 16/81 (19.8%) had follicular subtype. Lymph node metastasis was detected up to 18.4% in papillary and 18% in follicular patients. Multifocal tumours were detected in 25% (16/64) of T1 patients, of these 10.9% (7/64) was unilateral and 14.1% (9/64) was bilateral. Multifocal tumours were detected in 11.7% (2/17) of T2 patients; both were bilateral. Distribution of T1-2 bilateral multifocal patients (11/81; 13.5%) was n = 3 T1a-, n = 6 T1b and n = 2 T2 stadium, from these 10 patients received radioiodine treatment. The sizes of contralateral tumours were <5 mm in 9 patients, and >5 mm in 2 patients. Conclusions: Due to the frequent (13.5%) bilateral multifocality in T1-2 DTC patients, we suggest total thyroidec-tomy instead of lobectomy. After lobectomy, the follow-up of the contralateral tumours is almost impossible by ul-trasonography due to the small tumour size (on average 2.8 mm) and frequently detected benign nodules; therefore the multifocality might remain undetected, which can distort the plan for adjuvant treatment.


Subject(s)
Adenocarcinoma , Thyroid Neoplasms , Adenocarcinoma/surgery , Humans , Iodine Radioisotopes/therapeutic use , Lymphatic Metastasis , Retrospective Studies , Thyroid Neoplasms/pathology , Thyroidectomy
2.
J Obstet Gynaecol Res ; 38(11): 1328-30, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22564030

ABSTRACT

Epignathus is a rare congenital orofacial teratoma. We present a case of a fast-growing tumor, where early prenatal diagnosis was made and where fetopathological examination revealed the reason of the remarkable ultrasonographic signs and underlined the expected poor prognosis. Ultrasonographic examination at 18 weeks' gestation showed that there was a growing tumor protruding from the fetus's mouth. The fetal stomach could not be seen and extreme polyhydramnios was also detected. After counseling, the couple opted for a termination of pregnancy. Fetopathological examination showed that the tumorosus mass was not only protruding from the mouth, but also inexplicably grew downwards, was connected to the hard palate and the periosteum of the vertebral corpus, making an airway and esophageal obstruction, causing the ultrasonographic findings. Postnatal treatment and surgical removal of this tumor seemed to be impossible. In case of an early detection of a fast-growing fetal epignathus, pregnancy termination should be considered.


Subject(s)
Mouth Neoplasms/diagnostic imaging , Teratoma/diagnostic imaging , Ultrasonography, Prenatal , Disease Progression , Female , Humans , Male , Mouth Neoplasms/pathology , Pregnancy , Teratoma/pathology , Young Adult
4.
Orv Hetil ; 150(45): 2068-73, 2009 Nov 08.
Article in Hungarian | MEDLINE | ID: mdl-19861294

ABSTRACT

UNLABELLED: Cantrell's pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation. AIMS AND METHODS: Prenatal ultrasound findings and malformations described during autopsy of the Cantrell's pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell's pentalogy cases. RESULTS: Six cases of Cantrell's pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell's pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively). CONCLUSION: Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell's pentalogy from malformations part of the syndrome but occurring as isolated defects.


Subject(s)
Abnormalities, Multiple/diagnosis , Abortion, Legal , Prenatal Diagnosis , Abnormalities, Multiple/diagnostic imaging , Autopsy , Ectopia Cordis/diagnosis , Female , Gastroschisis/diagnosis , Heart Defects, Congenital/diagnosis , Hernia, Diaphragmatic/diagnosis , Humans , Male , Ultrasonography, Prenatal
5.
Pathol Res Pract ; 205(7): 490-3, 2009.
Article in English | MEDLINE | ID: mdl-19185430

ABSTRACT

Sacral and lumbosacral spine agenesis, as characteristic signs of a rare congenital malformation--caudal regression syndrome--has been well described. However, dorsolumbosacral agenesis involving the lower thoracic, lumbar, and sacral vertebrae has rarely been reported, and prenatal diagnosis of this severe form has not been published yet. A 37-year-old woman (gravida 2, para 0) who had diabetes mellitus asked for termination of her pregnancy, because second-trimester ultrasound screening showed dorsolumbosacral agenesis of the fetus. Fetopathological examination confirmed the prenatal diagnosis and showed that the lower seven thoracic and all lumbosacral segments were absent. The noticed small "bony" structure in the lumbar region supported the idea that caudal regression syndrome can be regarded as a "multisegmental" spinal dysgenesis that involves the caudal part of the spine. Reliable prenatal diagnosis of dorsolumbosacral agenesis is possible by second-trimester ultrasound. The prenatal sonologist should always try to look for and assess abnormalities during examinations. Emphasis should be placed especially on those types that have a higher risk of being present in the fetus because of the known risk factors in the particular pregnancy. Fetopathological examination emphasized the suggestion that segmental spinal dysgenesis and caudal regression syndrome may represent two faces of a single spectrum of segmental malformations of the spine and spinal cord.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Diabetes Mellitus, Type 2 , Lumbar Vertebrae/diagnostic imaging , Pregnancy in Diabetics , Sacrum/diagnostic imaging , Thoracic Vertebrae/diagnostic imaging , Ultrasonography, Prenatal , Abortion, Induced , Adult , Diabetes Mellitus, Type 2/drug therapy , Female , Gestational Age , Humans , Hypoglycemic Agents/therapeutic use , Insulin/therapeutic use , Lumbar Vertebrae/abnormalities , Pregnancy , Pregnancy Trimester, Second , Sacrum/abnormalities , Syndrome , Thoracic Vertebrae/abnormalities
6.
Am J Reprod Immunol ; 59(2): 99-104, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18211535

ABSTRACT

PROBLEM: This prospective study was aimed to evaluate whether non-invasive clinical and serologic parameters of tubal disease are predictive for subsequent spontaneous conception and pregnancy outcome after first episode of ectopic pregnancy (EP). METHOD OF STUDY: Overall, 144 women aged <35 years were enrolled. Outcome of subsequent spontaneous conception was analyzed after 3 years and compared with clinical parameters and antibody responses to Chlamydia trachomatis and epitopes of the 60-kDa chlamydial heat shock protein (CHSP-60). RESULTS: Antibody response to a conserved epitope of CHSP-60 (amino acids, aa 260-277) was independently correlated with both decreased spontaneous conception and term delivery rates (adjusted odds ratios, OR: 3.6 and 5.4, respectively). CONCLUSION: Presence of circulating antibodies to a conserved epitope of the CHSP-60 is associated with a lower spontaneous conception rate, and increased likelihood of adverse pregnancy outcome in women treated by salpingectomy for first episode of EP.


Subject(s)
Antibodies, Bacterial/blood , Bacterial Outer Membrane Proteins/immunology , Chlamydia Infections/immunology , Chlamydia trachomatis/immunology , Infertility/immunology , Pregnancy, Ectopic/immunology , Enzyme-Linked Immunosorbent Assay , Epitopes/immunology , Female , Humans , Infertility/microbiology , Pregnancy , Pregnancy, Ectopic/microbiology , Pregnancy, Ectopic/surgery , Prospective Studies
7.
Fetal Diagn Ther ; 23(1): 18-22, 2008.
Article in English | MEDLINE | ID: mdl-17934293

ABSTRACT

Periventricular leukomalacia of pre- or postnatal onset is responsible for severe neurological and intellectual impairment and cerebral palsy later in life. The etiology is multifactorial, involving hypoxic-ischemic insults of various origin. The disorder is characterized by multiple necrotic foci of the white matter found most frequently adjacent to the lateral ventricles. In the past, intrapartum factors were thought to be the major cause of neonatal brain damage, but recent investigations highlighted the role of antenatal risk factors. We present 4 cases of antenatally diagnosed brain injury with known and unusual etiology.


Subject(s)
Brain Injuries/diagnosis , Brain Injuries/etiology , Pregnancy Complications/diagnosis , Ultrasonography, Prenatal , Adult , Brain Injuries/diagnostic imaging , Fatal Outcome , Female , Fetal Diseases/diagnosis , Fetal Diseases/etiology , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Complications/diagnostic imaging , Risk Factors , Ultrasonography, Prenatal/methods
8.
Pathol Oncol Res ; 13(4): 351-9, 2007.
Article in English | MEDLINE | ID: mdl-18158572

ABSTRACT

The aim of the study was to determine the effect of postmenopausal hormone replacement therapy (HRT) (treatment using estrogen only and sequential and continuous combined estrogen-progestogen treatment) on endometrial bleeding and histological changes of the endometrium. In a six-year period (2000-2005), 5893 patients were given care and the incidence of postmenopausal uterine bleeding was detected in groups of patients having and not having received hormonal treatment at the Menopause Outpatient Unit of the authors' department. In the case of bleeding, fractioned abrasion was performed and the samples were analyzed histologically. Among the postmenopausal patients who had not been given hormonal treatment, the incidence of bleeding episodes was significantly higher as among those having received hormonal treatment. In the samples, findings of proliferative endometrium occurred significantly more often in case of non-treated patients and those treated with sequential combined hormone therapy compared to patients receiving continuous combined hormone therapy. Although it was statistically not significant, hyperplasia simplex and complex together showed a tendency of reduced incidence in patients medicated by continuous combined treatment. These findings suggest that continuous combined hormonal treatment started at the right time (even before the menopause) may reduce the chances of the development of hyperplasia. A significantly higher incidence of hyperplasia was noted in patients using estrogen treatment only. It is possible that unopposed estrogen treatment further engraves an already diagnosed endometrial hyperplasia. In the group having received hormonal treatment, no complex hyperplasia accompanied by atypia occurred, only hyperplasia simplex was diagnosed in these cases. As a result of continuous reliance on combined preparations, the endometrium had become atrophied, therefore the chance of hyperplasia-related changes and of bleeding as a side effect decreased significantly. According to the authors' experience, hormonal treatment does not pose a risk to the development of endometrial carcinoma; on the contrary, continuous combined preparations appear to reduce the risk of hyperplasia and, indirectly, the chances of the development of adenocarcinoma.


Subject(s)
Endometrium/pathology , Hormone Replacement Therapy/adverse effects , Postmenopause , Uterine Hemorrhage/pathology , Adult , Endometrial Hyperplasia/epidemiology , Female , Humans , Middle Aged , Uterine Hemorrhage/epidemiology
9.
Neuropsychopharmacol Hung ; 9(1): 11-8, 2007 Mar.
Article in Hungarian | MEDLINE | ID: mdl-17879560

ABSTRACT

The human dopamine D4 receptor (DRD4) gene has been extensively studied as a candidate gene for attention deficit hyperactivity disorder (ADHD). Both the 5' regulatory region and the coding sequence contain a number of polymorphisms. The most widely investigated polymorphism of the DRD4 gene is the 48 bp VNTR (Variable Number of Tandem Repeats) in the third exon. The promoter variants have received particular attention in the past few years due to their possible role in the regulation of gene expression. In this study we describe an association analysis of the 120 bp duplication and three sequence variations (SNPs, Single Nucleotide Polymorphism; -616 C/G, -615 A/G, -521 C/T) in the 5' region of the DRD4 gene is presented among children with ADHD. In case-control approach, the 1-repeat form of the 120 bp duplication had a significantly higher frequency among ADHD children than controls, both in allele-(p=0.047), and genotype (p=0.019) distributions. There was no significant difference between the ADHD and control groups in the allele or genotype frequencies of the investigated SNPs. The transcriptional effect of the 120 bp duplication was analysed in luciferase reporter system. The different 120 bp duplication alleles (1-repeat, 2-repeat and the newly identified 4-repeat allele) was found to have an effect on transcriptional activity of the DRD4 gene in both neuroblastoma and retinoblastoma cell lines in a dose-dependent manner. The higher was the repeat number of the 120 bp sequence in the promoter, the stronger was the decrease of the gene transcription (1-repeat > 2-repeat > 4-repeat; p<0.01). These results of association and functional analyses suggest that the 1-repeat form of the 120 bp duplication might be a risk factor of ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Polymorphism, Single Nucleotide , Receptors, Dopamine D4/genetics , Case-Control Studies , Cell Line, Tumor , Child , Female , Genotype , Humans , Male , Minisatellite Repeats , Plasmids , Retinoblastoma/genetics , Risk Factors , Transcription, Genetic
10.
Orv Hetil ; 148(31): 1451-9, 2007 Aug 05.
Article in Hungarian | MEDLINE | ID: mdl-17656335

ABSTRACT

OBJECTIVE: The aim of this study was to determine the effect of postmenopausal hormone replacement therapy (exclusively oestrogen or sequential/continuous combined oestrogen-progestogen treatment) on endometrial bleeding, including the histological alteration of the endometrium. PATIENTS: From January 2000 to December 2005, 5893 women were treated by the authors in the menopause unit of their department. They examined the frequency of menopausal bleeding in treated and control groups. In case of bleeding, dilatation and fractional curettage was always carried out and the tissues were histologically evaluated. RESULTS: In menopausal patients who did not obtain hormone replacement therapy, bleeding occurred twice as frequently as in the treated group. Proliferating or hyperplastic endometrium was observed mainly among the treated patients, suggesting that in due time, even before the age of menopause, hormonal treatment might decrease hyperplasia and indirectly the chance of occurrence of adenocarcinoma. Hyperplasia was found more frequently in patients obtaining only oestrogen. According to the authors' view, unbalanced oestrogen treatment might further aggravate the existing hyperplasia of the endometrium. In the group treated with hormonal therapy, only simplex hyperplasia was observed. No case of complex hyperplasia with atypia was found among these patients. In the majority of patients on continuous balanced hormonal therapy, the myometrium underwent atrophy and the frequency of hyperplasia, including the chance of bleeding, mostly decreased. Endometrial polyps most frequently were found under hormonal therapy, but no acceptable explanation can be provided. The rate of cervical polyps was also higher in this group. CONCLUSIONS: According to the observations of the authors, hormone replacement therapy does not increase the risk of endometrial carcinoma. Combined preparations decrease the frequency of hyperplasia and consequently the chance of occurrence of adenocarcinoma.


Subject(s)
Hormone Replacement Therapy , Postmenopause , Uterine Hemorrhage/drug therapy , Adult , Aged , Aged, 80 and over , Case-Control Studies , Endometrial Hyperplasia/prevention & control , Estrogens/administration & dosage , Female , Humans , Middle Aged , Polyps/prevention & control , Progesterone/administration & dosage
11.
Magy Seb ; 60(2): 90-4, 2007 Apr.
Article in Hungarian | MEDLINE | ID: mdl-17649850

ABSTRACT

The patients number on the transplant waiting lists are continuously increasing. The number of donors and transplantations can not reach this acceleration. To increase the number of organs we can use living donor organs or carefully selected extended criteria organs. To achieve appropriate function with marginal donor kidneys we need to transplant both kidneys into the same recipient. At the Transplant Division of University of Texas during a two years period we performed 5 double kidney transplantations with organs refused by the local transplant services. We placed both kidneys to the same side, retroperitoneally. The recipients mean age was 44.4 years and two of them belonged to the immunological risk ethnic group. After the transplantation all kidneys showed immediate function. During the patients mean hospital stay (6.25 days) the serum creatinine level decreased from 1000 micromol/l to 350 micromol/l. The Glomerular Filtration Rate (GFR) increased from 7 ml/min to 41 ml/min. Two patients suffered acute rejection which influenced their kidney function. During our two year follow up all patients avoided haemodyalsis. Double kidney transplantation is an acceptable solution for expanding the donor pool. After consistent and cautious selection previously rejected kidneys can be used.


Subject(s)
Cadaver , Creatinine/blood , Glomerular Filtration Rate , Kidney Failure, Chronic/surgery , Kidney Transplantation/methods , Adult , Aged , Humans , Hypertension, Renovascular/complications , Immunosuppressive Agents/therapeutic use , Kidney Failure, Chronic/blood , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/physiopathology , Length of Stay , Male , Middle Aged , Retrospective Studies , Texas , Treatment Outcome , Waiting Lists
12.
Orv Hetil ; 148(13): 609-12, 2007 Apr 01.
Article in Hungarian | MEDLINE | ID: mdl-17383955

ABSTRACT

UNLABELLED: A rare case, when radical vulvectomy had to be done to treat a benign skin disorder is presented. PATIENT AND METHOD: A 56-year-old white woman suffered from severe vulvar acne inversa. The systemic treatments, the incisions and drainages were not successful. The only solution was the radical excision of the seriously damaged vulva, with a satisfactory cosmetic and functional result. The pathology, the diagnosis and the treatment of the disease are also discussed. CONCLUSION: The authors put emphasis on the importance of the interdisciplinary collaboration.


Subject(s)
Acne Vulgaris/diagnosis , Acne Vulgaris/surgery , Gynecologic Surgical Procedures/methods , Vulva/pathology , Vulva/surgery , Acne Vulgaris/pathology , Drainage , Female , Humans , Interdisciplinary Communication , Middle Aged , Severity of Illness Index , Treatment Outcome
13.
Early Hum Dev ; 83(8): 505-9, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17074451

ABSTRACT

AIMS: This study was designed to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 18. STUDY DESIGN: Of 22,150 fetal chromosome analyses, 70 fetuses with trisomy 18 were diagnosed between 1990 and 2004. Sonographic and perinatal autopsy findings were compared by organ system and their correlation was assigned to 1 of 3 categories. RESULTS: There were 164 separate major structural abnormalities found on autopsy. Of them, sonography detected 72 (43.9%). Among major defects the agreement was more than 75% of all abnormalities of these systems: central nervous system (80%), abdominal abnormalities (87.5%) and cystic hygroma (100%). Whereas, the sensitivity of sonography was lower in these organ systems: cardiac system (66.6%), facial abnormalities (26.3%), urinary system (27.3%) and extremities (8.7%). The rate of additional findings at autopsy was 56.1% and involved mainly 2 organ systems: face (including ear) and extremities (including hands and feet). Some ultrasound findings (n=15) were not confirmed at autopsy in our series. CONCLUSIONS: This study confirms that perinatal autopsy provides additional information in many fetuses with trisomy 18. Besides obstetricians, pediatricians and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations. In addition, examining the correlation between sonography and pathologic findings may indicate potential markers for sonographic screening of trisomy 18.


Subject(s)
Chromosomes, Human, Pair 18 , Trisomy/diagnosis , Trisomy/pathology , Ultrasonography, Prenatal , Adolescent , Adult , Autopsy , Female , Humans , Infant, Newborn , Pregnancy , Quality Control
14.
Am J Med Genet B Neuropsychiatr Genet ; 144B(2): 231-6, 2007 Mar 05.
Article in English | MEDLINE | ID: mdl-17171658

ABSTRACT

Abnormalities of the dopamine neurotransmission have been hypothesized to play an important role in the pathophysiology of attention deficit hyperactivity disorder (ADHD). Promoter variants of the dopamine D4 receptor gene (DRD4) have attracted particular interest due to their possible role in regulation of gene transcription. Here we describe the haplotype analysis of the 120 base pair duplication (120-bp dup) and three SNPs (-616C/G, -615A/G, -521C/T) in the 5' region of the DRD4 gene among children with ADHD. We observed a trend (chi(2) = 14.905, df = 9, P = 0.093) in the four-locus haplotype distribution between ADHD probands (N = 173) and controls (N = 284). The homozygote genotype of the 1-repeat form of the 120-bp dup (1-1) had a significantly higher frequency among ADHD children than in controls (8.1% vs. 3.2%, chi(2) = 5.526, df = 1, P = 0.019, Odds Ratio = 2.71). In addition, a novel, 4-repeat allele was identified among ADHD patients. This particular allele has been cloned to the luciferase expression vector and its transcriptional activity has been compared to the 1- and 2-repeat allele. The number of repeats of the 120-bp dup was found to have an effect on transcriptional activity in both neuroblastoma and retinoblastoma cell lines in a dose-dependent manner (1-repeat > 2-repeat > 4-repeat). These results suggest that the 1-repeat form of the 120-bp dup might be a risk factor of ADHD, especially in the homozygous form and/or in the context of certain haplotypes.


Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Base Pairing/genetics , Gene Duplication , Genetic Predisposition to Disease , Receptors, Dopamine D4/genetics , Alleles , Case-Control Studies , Child , Female , Gene Frequency , Haplotypes , HeLa Cells , Humans , Male , Polymorphism, Single Nucleotide/genetics , Promoter Regions, Genetic/genetics , Repetitive Sequences, Nucleic Acid/genetics , Transcriptional Activation/genetics
15.
Orv Hetil ; 147(39): 1901-3, 2006 Oct 01.
Article in Hungarian | MEDLINE | ID: mdl-17117510

ABSTRACT

Congenital absence of the ductus venosus is a rare anomaly. The authors have found 57 cases in the literature. Their case was associated with a complex congenital heart disease, what occurs only in 10% of absent ductus venosus cases. In cases, where the umbilical vein connects directly to the right atrium, the volume overloading causes dilatation of the right atrium and ventricle, development of polyhydramnios and fetal hydrops. The diagnosed an umbilical vein directly connected to the right atrium, extreme systemic congestion, but no hydrops. In some fetuses this condition did not result hydrops, because there is compensation by the rich compliance of intrahepatic vascular beds. This case is an illustration that mild sonographic signs such a transient bradycardia in the early second trimester could be a sign of a heart malformation and can draw attention of the sonographer to other associated severe congenital heart disease.


Subject(s)
Fetus/blood supply , Heart Defects, Congenital/etiology , Umbilical Veins/abnormalities , Female , Gestational Age , Humans , Pregnancy , Ultrasonography, Prenatal
16.
Prenat Diagn ; 26(13): 1262-6, 2006 Dec.
Article in English | MEDLINE | ID: mdl-17099926

ABSTRACT

OBJECTIVES: This study was conducted to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 13. METHODS: Of 22 150 fetal chromosome analyses, 28 fetuses with trisomy 13 were diagnosed between 1990 and 2004. Findings of second-trimester sonography and subsequent fetal autopsy were compared by organ system, and their correlation was assigned to one of three categories based on the degree of agreement. RESULTS: Of the total of 79 abnormalities that were found on autopsy, prenatal sonography showed 48 (60.8%). The agreement was more than 75% of all abnormalities of these systems: central nervous system (CNS) (76.5%), facial abnormalities (76.5%), urinary system (81.8%) and fetal hydrops (100%), whereas the sensitivity of sonography was lower in these organ systems: heart (53.3%), extremities (12.5%) and abdominal abnormalities (33.3%). In 39.2% of the cases, autopsy findings were not detected by sonography. These additional findings at autopsy involved mainly three organ systems: heart, face and extremities. Some ultrasound findings (n = 17) were not verified at autopsy; most of them were quantitative markers (mild ventriculomegaly, mild pyelectasis). CONCLUSION: Our results indicate that thorough sonographic examination of the fetal face (including ears) and extremities (including hands and feet) with an extensive use of fetal echocardiography may increase the sensitivity of prenatal sonography in detecting trisomy 13.


Subject(s)
Abnormalities, Multiple/diagnosis , Autopsy/methods , Trisomy/diagnosis , Ultrasonography, Prenatal , Adult , Chromosomes, Human, Pair 13 , Female , Humans , Pregnancy , Reproducibility of Results
17.
Clin Transplant ; 20(4): 423-6, 2006.
Article in English | MEDLINE | ID: mdl-16842516

ABSTRACT

AIM: To compare the outcomes of single paediatric vs. adult kidneys transplanted into adult recipients. METHODS: A retrospective single-centre review of 38 single cadaver kidney transplants from donors less than five yr of age to wait-listed patients of low body mass index (BMI). Survival of grafts and quality of renal function were compared with 121 similarly low BMI recipients of grafts from donors 18-45 yr of age that were transplanted during the same period. Immunosuppression consisted of sirolimus, minimal-dose cyclosporine and prednisone. The mean age of the paediatric vs. adult donors was 2.8+/-1.0 and 31.1+/-9.2 yr, respectively (p<0.01) and of the recipients, 42.0+/-12.4 and 45.7+/-14.8 yr, respectively (p=NS). The mean BMI of paediatric vs. adult donor kidney recipients was 21.8+/-2.9 and 22.4+/-2.0 kg/m2 (p=NS). Sixty-six per cent of paediatric donor recipients were women compared with 44% of adult donor recipients (p=0.03). RESULTS: Death censored actuarial graft survivals at one and five yr for recipients of paediatric vs. adult donor grafts were 93 and 84% compared with 93 and 85% (p=NS). There were no graft losses because of technical complications in the paediatric kidney donor group. At one and five yr post-transplantation, the mean estimated creatinine clearances of the paediatric donor graft recipients were 52.9+/-19.6 and 54.0+/-17.8 mL/min, respectively, compared with 56.4+/-19.8 and 49.1+/-21.7 mL/min for recipients of adult donor grafts at the same times (p=NS). CONCLUSION: Transplantation of single paediatric donor kidneys into low BMI adult recipients provided equivalent outcomes to those of grafts from adult donors between the ages of 18 and 45 yr.


Subject(s)
Kidney Transplantation/physiology , Adolescent , Adult , Child, Preschool , Creatinine/metabolism , Female , Graft Survival , Humans , Male , Middle Aged , Quality of Life , Retrospective Studies , Transplantation, Homologous , Treatment Outcome
18.
Orv Hetil ; 147(12): 537-45, 2006 Mar 26.
Article in Hungarian | MEDLINE | ID: mdl-16696377

ABSTRACT

OBJECTIVE: The purpose of this study was to assess the 5-year survival and morbidity when radical hysterectomy and pelvic lymphadenectomy with pre- and postoperative radiation have been performed for IA2-IIB stage cervical cancer. STUDY DESIGN: During a 10 and a half year period between July, 1990 and December, 2000, 501 consecutive radical hysterectomies with bilateral pelvic lymphadenectomies were performed by the same gynecological surgeon for stage IA2, IB, IIA and IIB carcinoma of the cervix at the I. Department of Obstetrics and Gynecology, Semmelweis University Budapest. The patients were treated by pre- and postoperative irradiation as well. RESULTS: Perioperative complications apart from recurrence were minimal with no long-term morbidity. The absolute 5-year survival rates for the patients in stage IA2, IB1, IB2, IIA and IIB were 94,4%, 90,7%, 84,1%, 71,1% and 55,4%, respectively. The respective 5-year survival rates for patients without or with lymph node metastasis, were 94,5% and 33,3% in stage IB2, 81,7% and 48,7% in stage IIA and 70,2% and 36,5% in stage IIB, respectively. CONCLUSION: Nerve-sparing radical abdominal hysterectomy with pelvic lymph node dissection and pre- and postoperative irradiation remains the treatment of choice for most patients with early-stage and even in IIB-stage cervical cancer. The radicality and extent of lymph node dissection and parametrial resection should be individualized and tailored to tumor- and patient-related risk factors.


Subject(s)
Carcinoma/mortality , Carcinoma/surgery , Hysterectomy/adverse effects , Hysterectomy/methods , Lymph Node Excision , Uterine Cervical Neoplasms/mortality , Uterine Cervical Neoplasms/surgery , Adult , Aged , Carcinoma/radiotherapy , Carcinoma/secondary , Female , Humans , Hungary/epidemiology , Lymphatic Metastasis , Middle Aged , Neoadjuvant Therapy/methods , Neoplasm Staging , Radiotherapy, Adjuvant , Survival Analysis , Treatment Outcome , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/radiotherapy
19.
BMC Mol Biol ; 7: 18, 2006 May 24.
Article in English | MEDLINE | ID: mdl-16723017

ABSTRACT

BACKGROUND: The human dopamine D4 receptor (DRD4) gene has been studied extensively as a candidate gene for certain psychological traits and several behavioural and psychiatric disorders. Both the 5' regulatory region and the coding sequence contain a number of polymorphisms. The promoter variants have received particular attention in the past few years due to their possible role in the regulation of gene transcription. Previously, the -521C/T SNP was shown to influence promoter activity. The aim of this study is to perform an in-depth analysis of this effect in the context of various neural cell lines. RESULTS: Endogenous mRNA expression of the DRD4 gene was demonstrated in two neuroblastoma (SK-N-F1, IMR32) and one retinoblastoma cell line (Y79) by RT-PCR. In addition, very low DRD4 mRNA levels were also detected in HeLa cells. The transcriptional activity of a series of 5' promoter deletion mutants was determined by transient transfection of luciferase reporter constructs. The activity profile of these promoter fragments was similar in each of the cell lines tested. The highest luciferase reporter activity was obtained with a construct containing promoter sequences between nucleotides -668 to -389, while a putative silencer region was localised spanning from nucleotide -1571 to -800. Surprisingly, the -521 C/T polymorphism had no significant effect on transcriptional activity of the reporter construct with the highest activity (-668 to -389) in any of the three cell lines tested. CONCLUSION: Our results do not confirm previous data assigning different transcriptional activities to the -521 C/T alleles of the human DRD4 promoter. Furthermore, these findings highlight the need for further characterization of the 5' regulatory region of the DRD4 gene and identification of additional functional promoter polymorphic sites, especially in the context of haplotype.


Subject(s)
Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Receptors, Dopamine D4/genetics , Cell Line, Tumor , DNA Mutational Analysis , Humans , Neurons/metabolism , Receptors, Dopamine D4/metabolism , Transcription, Genetic
20.
Virology ; 348(2): 289-96, 2006 May 10.
Article in English | MEDLINE | ID: mdl-16499942

ABSTRACT

Human papillomavirus (HPV) is known as a strictly epitheliotropic pathogen. Our results raised the possibility that HPV 16 is present in neural cells and in the vascular endothelium. By in situ hybridization, we have detected HPV 16 E6 ORF sequence in small blood vessels and peripheral nerves adjacent to oral and cervical cancers. The same structures have clearly shown immunohistochemical reactivity for the E6 oncoprotein. These results were verified by PCR applied to E6 and L1 ORFs following microscopic laser dissection of the immunohistochemically positive nerves and vessels. These observations suggest that HPV 16 DNA and protein are present in neurons and endothelial cells in the vicinity of HPV-associated tumors. The HPV 16 genome presumably exists in a non-replicating form in the neurons and constitutively produces high levels of E6 and E7 proteins with an unknown neuropathological outcome.


Subject(s)
Endothelium, Vascular/virology , Human papillomavirus 16/isolation & purification , Human papillomavirus 16/pathogenicity , Neurons/virology , Base Sequence , DNA, Viral/genetics , DNA, Viral/isolation & purification , Female , Head and Neck Neoplasms/blood supply , Head and Neck Neoplasms/virology , Human papillomavirus 16/genetics , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Oncogene Proteins, Viral/genetics , Oncogene Proteins, Viral/metabolism , Papillomavirus E7 Proteins , Papillomavirus Infections/virology , Peripheral Nerves/virology , Repressor Proteins/genetics , Repressor Proteins/metabolism , Uterine Cervical Neoplasms/blood supply , Uterine Cervical Neoplasms/virology
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