WorldWideScience

Sample records for human hereditary papillary

  1. Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

    DEFF Research Database (Denmark)

    Wadt, Karin; Gerdes, Anne-Marie; Hansen, Thomas V O;

    2012-01-01

    Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene. HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense...... mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance...... of revised pathology examinations in possible hereditary renal-cell carcinomas especially when described before 1997....

  2. Human hereditary hepatic porphyrias.

    Science.gov (United States)

    Nordmann, Yves; Puy, Hervé

    2002-11-01

    The human hereditary hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or erythroid, depending on the major production site of porphyrins or their precursors. The pathogenesis of inherited hepatic porphyrias has now been defined at the molecular level. Some gene carriers are vulnerable to a range of exogenous and endogenous factors, which may trigger neuropsychiatric and/or cutaneous symptoms. Early diagnosis is of prime importance since it makes way for counselling. In this article we present an overview of recent advances on hepatic porphyrias: 5-aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HC), and variegate porphyria (VP).

  3. Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases

    Directory of Open Access Journals (Sweden)

    Behnes Carl Ludwig

    2013-01-01

    Full Text Available Abstract Background Papillary renal cell carcinoma is a rare cancer. Some cases can be attributed to individuals with hereditary renal cell carcinomas usually consisting of the clear cell subtype. In addition, two syndromes with hereditary papillary renal cell carcinoma have been described. One is the hereditary leiomyomatosis and renal cell carcinoma, which is characterized by cutaneous and uterine leiomyomas and renal cell carcinoma mostly consisting of the papillary renal cell carcinoma type II with a worse prognosis. Case presentation We describe a case of a 30-year-old woman with hereditary leiomyomatosis and renal cell carcinoma syndrome with extensively metastasized papillary renal cell carcinoma, primarily diagnosed in a cervical lymph node lacking leiomyomas at any site. Conclusion Papillary renal cell carcinoma in young patients should be further investigated for a hereditary variant like the hereditary leiomyomatosis and renal cell carcinoma even if leiomyomas could not be detected. A detailed histological examination and search for mutations is essential for the survival of patients and relatives.

  4. One novel transcript of human hereditary multipleexostoses 2 (EXT2)

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The encoding sequence of human hereditary multiple exostoses gene EXT2.1 is 30 bp longer than EXT2, and they differ in a sequence of 90 base pairs. In order to clarify EXT2.1 structure, this 90 bp sequence was analyzed with the Human Sequence Draft, a database provided by Celera Genomics. The result shows that EXT2.1 is a novel transcript of EXT2 gene, suggesting a rare event of alternative splicing.

  5. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  6. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel.

  7. Mouse Model of Human Hereditary Pancreatitis

    Science.gov (United States)

    2016-09-01

    models that recapitulate the human disease . Therefore, we introduced mutations in the endogenous mouse T7 cationic trypsinogen gene and obtained several...ACCOMPLISHMENTS: What were the major goals of the project? Our original proposal had three specific aims. Aim 1. Identify and biochemically characterize...pancreatitis in mutant mice which do not develop spontaneous disease (strains T7-D23del-Cre, T7-D23del-Neo, T7-K24R-Cre and T7- K24R-Neo), will be

  8. Heterogeneity of uroplakin localization in human normal urothelium, papilloma and papillary carcinoma.

    Science.gov (United States)

    Zupancic, Dasa; Romih, Rok

    2013-01-01

    Uroplakins are differentiation-related membrane proteins of urothelium. We compared uroplakin expression and ultrastructural localization in human normal urothelium, papilloma and papillary carcinoma. Because of high recurrence rate of these tumours, treated by transurethral resection, we investigated urothelial tumour, resection border and uninvolved urothelium. Urinary bladder samples were obtained from tumour free control subjects and patients with papilloma and papillary carcinoma. Immunohistochemical and immunoelectron labelling of uroplakins were performed. In normal human urothelium with continuous uroplakin-positive superficial cell layer uroplakins were localized to flattened mature fusiform vesicles and apical plasma membrane of umbrella cells. Diverse uroplakin expression was found in papilloma and papillary carcinoma. Three aberrant differentiation stages of urothelial cells, not found in normal urothelium, were recognized in tumours. Diverse uroplakin expression and aberrant differentiation were occasionally found in resection border and in uninvolved urothelium. We demonstrated here that uroplakin expression and localization in urothelial tumours is altered when compared to normal urothelium. In patients with papilloma and papillary carcinoma immunolabelling of uroplakins at ultrastructural level shows aberrant urothelial differentiation. It is possible that aberrant differentiation stages of urothelial cells in resection border and in uninvolved urothelium contribute to high recurrence rate.

  9. Association of human papilloma virus with atypical and malignant oral papillary lesions.

    Science.gov (United States)

    McCord, Christina; Xu, Jing; Xu, Wei; Qiu, Xin; Muhanna, Nidal; Irish, Jonathan; Leong, Iona; McComb, Richard John; Perez-Ordonez, Bayardo; Bradley, Grace

    2014-06-01

    This study aimed to examine atypical and malignant papillary oral lesions for low- and high-risk human papillomavirus (HPV) infection and to correlate HPV infection with clinical and pathologic features. Sections of 28 atypical papillary lesions (APLs) and 14 malignant papillary lesions (MPLs) were examined for HPV by in situ hybridization and for p16 and MIB-1 by immunohistochemistry; 24 conventional papillomas were studied for comparison. Low-risk HPV was found in 10 of 66 cases, including 9 APLs and 1 papilloma. All low-risk HPV-positive cases showed suprabasilar MIB-1 staining, and the agreement was statistically significant (P < .0001). Diffuse p16 staining combined with high-risk HPV was not seen in any of the cases. A subset of HPV(-) APLs progressed to carcinoma. Oral papillary lesions are a heterogeneous group. Low-risk HPV infection is associated with a subset of APLs with a benign clinical course. Potentially malignant APLs and MPLs are not associated with low- or high-risk HPV. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Expression Patterns of Glucose Transporter-1 Gene and Thyroid Specific Genes in Human Papillary Thyroid Carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sungeun; Chung, Junekey; Min Haesook and others

    2014-06-15

    The expression of glucose transporter-1 (Glut-1) gene and those of major thyroid-specific genes were examined in papillary carcinoma tissues, and the expressions of these genes were compared with cancer differentiation grades. Twenty-four human papillary carcinoma tissues were included in this study. The expressions of Glut-1- and thyroid-specific genes [sodium/iodide symporter (NIS), thyroid peroxidase, thyroglobulin, TSH receptor and pendrin] were analyzed by RT-PCR. Expression levels were expressed as ratios versus the expression of beta-actin. Pathologic differentiation of papillary carcinoma was classified into a relatively well-differentiated group (n=13) and relatively less differentiated group (n=11). Glut-1 gene expression was significantly higher in the less differentiated group (0.66±0.04) than in the well-differentiated group (0.59±0.07). The expression levels of the NIS, PD and TG genes were significantly higher in the well-differentiated group (NIS: 0.67±0.20, PD: 0.65±0.21, TG: 0.74±0.16) than in the less differentiated group (NIS: 0.36±0.05, PD: 0.49±0.08, TG: 0.60±0.11), respectively. A significant negative correlation was found between Glut-1 and NIS expression, and positive correlations were found between NIS and TG, and between NIS and PD. The NIS, PD and TG genes were highly expressed in well-differentiated thyroid carcinomas, whereas the Glut-1 gene was highly expressed in less differentiated thyroid carcinomas. These findings provide a molecular rationale for the management of papillary carcinoma, especially in the selection of FDG PET or radioiodine whole-body scan and I-131-based therapy.

  11. Quercetin-Induced Cell Death in Human Papillary Thyroid Cancer (B-CPAP Cells

    Directory of Open Access Journals (Sweden)

    Ergül Mutlu Altundağ

    2016-01-01

    Full Text Available In this study, we have investigated the antiproliferative effect of quercetin on human papillary thyroid cancer cells and determined the apoptotic mechanisms underlying its actions. We have used different concentrations of quercetin to induce apoptosis and measured cell viability. Apoptosis and cell cycle analysis was determined by flow cytometry using Annexin V and propidium iodide. Finally, we have measured changes in caspase-3 and cleaved poly(ADP-ribose polymerase (PARP protein expression levels as hallmarks of apoptosis and Hsp90 protein expression level as a marker of proteasome activity in treated and control cells. Quercetin treatment of human papillary thyroid cancer cells resulted in decreased cell proliferation and increased rate of apoptosis by caspase activation. Furthermore, it was demonstrated that quercetin induces cancer cell apoptosis by downregulating the levels of Hsp90. In conclusion, we have shown that quercetin induces downregulation of Hsp90 expression that may be involved in the decrease of chymotrypsin-like proteasome activity which, in order, induces inhibition of growth and causes cell death in thyroid cancer cells. Thus, quercetin appears to be a promising candidate drug for Hsp90 downregulation and apoptosis of thyroid cancer cells.

  12. Hereditary hearing loss: from human mutation to mechanism.

    Science.gov (United States)

    Lenz, Danielle R; Avraham, Karen B

    2011-11-01

    The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes encoding a large variety of proteins. Mutations in these genes have been discovered for patients with different modes of inheritance and types of hearing loss, ranging from syndromic to non-syndromic and mild to profound. In many cases, the mechanisms whereby the mutations lead to hearing loss have been partly elucidated using cell culture systems and mouse and other animal models. The discovery of the genes has completely changed the practice of genetic counseling in this area, providing potential diagnosis in many cases that can be coupled with clinical phenotypes and offer predictive information for families. In this review we provide three examples of gene discovery in families with hereditary hearing loss, all associated with elucidation of some of the mechanisms leading to hair cell degeneration and pathology of deafness.

  13. Treatment of type I and II hereditary angioedema with Rhucin, a recombinant human C1 inhibitor.

    Science.gov (United States)

    Varga, Lilian; Farkas, Henriette

    2008-11-01

    Hereditary and acquired angioedema are of outstanding clinical importance, as edematous attacks associated with these conditions can thrust afflicted patients into mortal danger. Currently, C1 inhibitor concentrate - a human blood product - is available as a replacement therapy. In view of the limited number of donors, as well as the risk of transmission of blood-borne infections, it is a reasonable expectation to develop a therapeutic alternative based on recombinant technology, which would eliminate all these shortcomings. Pharming (Leiden, The Netherlands) has developed Rhucin, a recombinant human C1 inhibitor, as a proprietary product, which is currently being evaluated in Phase III clinical trials. Ongoing studies conducted within the framework of the development program are almost complete and their interim findings are reassuring. This should facilitate successful regulatory approval in the near future, which is indispensable in order to make Rhucin available for patients with hereditary angioedema or other disorders amenable to C1 inhibitor replacement.

  14. Expression of PACAP and PAC1 Receptor in Normal Human Thyroid Gland and in Thyroid Papillary Carcinoma.

    Science.gov (United States)

    Bardosi, Sebastian; Bardosi, Attila; Nagy, Zsuzsanna; Reglodi, Dora

    2016-10-01

    Pituitary adenylate cyclase activating polypeptide (PACAP) belongs to the vasoactive intestinal peptide-secretin-glucagon peptide family, isolated first from ovine hypothalamus. The diverse physiological effects of PACAP are known mainly from animal experiments, including several actions in endocrine glands. Alteration of PACAP expression has been shown in several tumors, but changes in expression of PACAP and its specific PAC1 receptor in human thyroid gland pathologies have not yet been investigated. Therefore, the aim of the present study was to investigate expression of PACAP and its PAC1 receptor in human thyroid papillary carcinoma, the most common endocrine malignant tumor. PACAP and PAC1 receptor expressions were investigated from thyroid gland samples of patients with papillary carcinomas. The staining intensity of follicular epithelial cells and thyroid colloid of tumor tissue was compared to that of tumor-free tissue in the same thyroid glands in a semi-quantitative way. Our results reveal that both PACAP(-like) and PAC1 receptor(-like) immunoreactivities are altered in papillary carcinoma. Stronger PACAP immunoreactivity was observed in active follicles. Colloidal PACAP immunostaining was either lacking or very weak, and more tumorous cells displayed strong apical immunoreactivity. Regarding PAC1 receptor, cells of the normal thyroid tissue showed strong granular expression, which was lacking in the tumor cells. The cytoplasm of tumor cells displayed weak, minimal staining, while in a few tumor cells we observed strong PAC1 receptor expression. This pattern was similar to that observed in the PACAP expression, but fewer in number. In summary, we showed alteration of PACAP and PAC1 receptor expression in human thyroid papillary carcinoma, indicating that PACAP regulation is disturbed in tumorous tissue of the thyroid gland. The exact role of PACAP in thyroid tumor growth should be further explored.

  15. [Hereditary neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Calvo, Judith; Ghorab, Karima; Tazir, Meriem

    2008-11-15

    Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.

  16. Advantages of a miniature pig model in research on human hereditary hearing loss

    Institute of Scientific and Technical Information of China (English)

    Weiwei Guo; Shi-ming Yang

    2015-01-01

    In medical laboratory animals, the pig is the closest species to human in evolution, except for primates. As an animal model, the pig is highly concerned by many scientists, including comparative biology, developmental biology, medical genetics. Rodents as animal model for human hearing defects has are poor producibility and reliability, due to differences in anatomical structure, evolutionary rate and metabolic rate, but these happens to be the advantages of the pig model. In this paper, we will summarize the application of miniature pig in the study of human hereditary deafness.

  17. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.

    Science.gov (United States)

    Cross, N C; Tolan, D R; Cox, T M

    1988-06-17

    Hereditary fructose intolerance (HFI) is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. We report here the first identification of a molecular lesion in the aldolase B gene of an affected individual whose defective protein has previously been characterized. The mutation is a G----C transversion in exon 5 that creates a new recognition site for the restriction enzyme Ahall and results in an amino acid substitution (Ala----Pro) at position 149 of the protein within a region critical for substrate binding. Utilizing this novel restriction site and the polymerase chain reaction, the patient was shown to be homozygous for the mutation. Three other HFI patients from pedigrees unrelated to this individual were found to have the same mutation: two were homozygous and one was heterozygous. We suggest that this genetic lesion is a prevailing cause of hereditary fructose intolerance.

  18. Nerve fibre and sensory end organ density in the epidermis and papillary dermis of the human hand.

    Science.gov (United States)

    Kelly, E J; Terenghi, G; Hazari, A; Wiberg, M

    2005-09-01

    Quantification of sensory recovery after peripheral nerve surgery is difficult and no accurate techniques are available at present. Quantification of reinnervated skin has been used experimentally, and in some clinical studies, but the lack of knowledge about the normal sensory distribution has been a problem. The purpose of this study was, therefore, to map the density of sensory end organs, nerve fibres and free nerve endings in the glabrous skin of the human hand. Skin biopsies were taken from patients undergoing acute and elective hand surgery. Nerve fibres were stained in the epidermis and papillary dermis and quantified in five sites on the palm of the hand, using protein gene product 9.5 immunoreactivity-a panneuronal marker. The finger tip skin was found to have more than twice the nerve fibre density in the papillary dermis than the skin of the palm, and the number of Meissner corpuscles in the finger tip was also higher than in the palm. We found a reduction in innervation density with increasing age in the dermis, however, that was not the case for the epidermis. The innervation of the epidermis showed high interindividual variability and unlike the papillary dermis did not display any pattern of distribution in the hand.

  19. Vitamin D receptor expression is linked to potential markers of human thyroid papillary carcinoma.

    Science.gov (United States)

    Izkhakov, Elena; Somjen, Dalia; Sharon, Orli; Knoll, Esther; Aizic, Asaf; Fliss, Dan M; Limor, Rona; Stern, Naftali

    2016-05-01

    Genes regulated cell-cell and cell-matrix adhesion and degradation of the extracellular matrix (ECM) have been screened as potential markers of malignant thyroid nodules. The mRNA expression levels of two of them, the ECM protein-1 (ECM1) and the type II transmembrane serine protease-4 (TMPRSS4), were shown to be an independent predictor of an existing thyroid carcinoma. The vitamin D receptor (VDR) is expressed in epithelial cells of the normal thyroid gland, as well as in malignant dividing cells, which respond to the active metabolite of vitamin D by decreased proliferative activity in vitro. We evaluated the relationship between mRNA gene expressions of TMPRSS4, ECM1 and VDR in 21 papillary thyroid carcinoma samples and compared it to 21 normal thyroid tissues from the same patients. Gene expression was considered as up- or down-regulated if it varied by more or less than 2-fold in the cancer tissue relative to the normal thyroid tissue (Ca/N) from the same patient. We found an overall significant adjusted correlation between the mRNA expression ratio (ExR) of VDR and that of ECM1 in Ca/N thyroid tissue (R=0.648, Pthyroid tissue from the same patient (3.06±2.9), which also exhibited a high Ca/N ExR of ECM1 and/or of TMPRSS4 (>2, P=0.05).The finding that increased VDR expression in human thyroid cancer cells is often linked to increased ECM1 and/or TPMRSS4 expression warrants further investigation into the potential role of vitamin D analogs in thyroid carcinoma.

  20. Expression of prostaglandin E2 and EP receptors in human papillary thyroid carcinoma.

    Science.gov (United States)

    Sun, Liao; Wei, Xiaohong; Liu, Xueting; Zhou, Danli; Hu, Fang; Zeng, Yingjuan; Sun, Ying; Luo, Shunkui; Zhang, Yu; Yi, Xian Ping

    2016-04-01

    The objective of the present study is to determine the role of prostaglandin E2 (PGE2) and downstream EP receptors in the development of human papillary thyroid carcinoma (PTC). A total of 90 thyroid specimens excised from patients undergoing total or subtotal thyroidectomy in the Department of General Surgery, the Fifth Affiliated Hospital of Sun Yat-sen University, China, from August 2013 to September 2014, were analyzed. The quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and immunohistochemical analyses were employed to examine the messenger RNA (mRNA) and protein expression, respectively. The expressions and significances of cyclooxygenase-2 (COX-2), microsomal prostaglandin E synthase-1 (mPGES-1), PGE2, and EP receptors in PTC and nodular goiter were investigated. The COX-2 mRNA and protein expression level significantly increased in the PTC tissues than in the paired noncarcinoma tissues adjacent to the PTC or nodular goiter tissues. The mPGES-1 protein expression was also significantly upregulated in the PTC tissues. All the four subtypes of EP receptors (EP1-4) could express in the thyroid tissues, while only the EP4 mRNA and protein levels significantly increased in the PTC tissues. The local production of PGE2 had a higher-level expression in the PTC tissues than in the noncarcinoma thyroid tissues adjacent to the PTC lesion and the benign nodular goiter tissues. The induction of PGE2 biosynthesis as well as the overexpression of EP4 in PTC suggested that this pathway might play an important role in the carcinogenesis and progression of PTC. These observations raise the possibility that pharmacological inhibition of mPGES-1 and/or EP4 may hold therapeutic promise in this common cancer.

  1. Human keratin diseases: hereditary fragility of specific epithelial tissues.

    Science.gov (United States)

    Corden, L D; McLean, W H

    1996-12-01

    Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (EBS) was the first mechanobullous disease for which the underlying genetic lesion was found, with mutations in both the K5 and K14 genes rendering basal epidermal keratinocytes less resilient to trauma, resulting in skin fragility. The site of mutation in the keratin protein correlates with phenotypic severity in this disorder. Since mutations were identified in the basal cell keratins, the total number of keratin genes associated with diseases has risen to eleven. The rod domains of suprabasal keratins K1 and K10 are mutated in bullous congenital ichthyosiform erythroderma (BCIE; also called epidermolytic hyperkeratosis, EH) and mosaicism for K1/K10 mutations results in a nevoid distribution of EH. An unusual mutation in the VI domain of K1 has also been found to cause diffuse non-epidermolytic palmoplantar keratoderma (DNEPPK). Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS). In the last year or so, mutations were discovered in differentiation specific keratins K6a and K16 causing pachyonychia congenita type 1 and K17 mutations occur in pachyonychia congenita type 2. K16 and K17 mutations have also been reported to produce phenotypes with little or no nail changes: K16 mutations can present as focal non-epidermolytic palmoplantar keratoderma (NEPPK) and K17 mutations can result in a phenotype resembling steatocystoma multiplex. Recently, mutation of mucosal keratin pair K4 and K13 has been shown to underlie white sponge nevus (WSN). This year, the first mutations in a keratin-associated protein, plectin, were shown to

  2. Apigenin induces autophagic cell death in human papillary thyroid carcinoma BCPAP cells.

    Science.gov (United States)

    Zhang, Li; Cheng, Xian; Gao, Yanyan; Zheng, Jie; Xu, Qiang; Sun, Yang; Guan, Haixia; Yu, Huixin; Sun, Zhen

    2015-11-01

    Apigenin, abundantly present in fruits and vegetables, is recognized as a flavonoid with anti-inflammatory, antioxidant and anticancer properties. In this study, we first investigated the anti-neoplastic effects of apigenin on papillary thyroid carcinoma (PTC) cell line BCPAP cells. Our results show that apigenin inhibited the viability of BCPAP cells in a dose-dependent manner. A large body of evidence demonstrates that autophagy contributes to cell death in certain contexts. In the present study, autophagy was induced by apigenin treatment in BCPAP cells, as evidenced by Beclin-1 accumulation, conversion of LC3 protein, p62 degradation as well as the significantly increased formation of acidic vesicular organelles (AVOs) compared to the control group. 3-MA, an autophagy inhibitor, rescued the cells from apigenin-induced cell death. Notably, apigenin enhanced production of reactive oxygen species (ROS), and subsequent induction of significant DNA damage as monitored by the TUNEL assay. In addition, apigenin treatment caused a significant accumulation of cells in the G2/M phase via down-regulation of Cdc25C expression. Our findings reveal that apigenin inhibits papillary thyroid cancer cell viability by the stimulation of reactive oxygen species (ROS) production, induction of DNA damage, leading to G2/M cell cycle arrest followed by autophagic cell death. Thus, our results provide new insights into the molecular mechanisms underlying apigenin-mediated autophagic cell death and suggest apigenin as a potential chemotherapeutic agent which is able to fight against papillary thyroid cancer.

  3. Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family

    Directory of Open Access Journals (Sweden)

    Samin Alavi

    2015-09-01

    Full Text Available Human parvovirus (HPV B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

  4. Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family.

    Science.gov (United States)

    Alavi, Samin; Arabi, Nahid; Yazdi, Mohammad Kaji; Arzanian, Mohammad Taghi; Zohrehbandian, Farahnaz

    2015-09-01

    Human parvovirus (HPV) B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS) is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR) and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

  5. Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2

    NARCIS (Netherlands)

    Suijkerbuijk, R F; Meloni, A M; Sinke, R J; de Leeuw, B; Wilbrink, M; Janssen, H A; Geraghty, M T; Monaco, A P; Sandberg, A A; Geurts van Kessel, A

    1993-01-01

    Recently, a specific chromosome abnormality, t(X;1)(p11;q21), was described for a subgroup of human papillary renal cell carcinomas. The translocation breakpoint in Xp11 is located in the same region as that in t(X;18)(p11;q11)-positive synovial sarcoma. We used fluorescence in situ hybridization (F

  6. Human recombinant anti-thyroperoxidase autoantibodies: in vitro cytotoxic activity on papillary thyroid cancer expressing TPO

    OpenAIRE

    Rebuffat, S A; Morin, M.; Nguyen, B; Castex, F; Robert, B.; Péraldi-Roux, S

    2010-01-01

    Background: Thyroid cancers are difficult to treat due to their limited responsiveness to chemo- and radiotherapy. There is thus a great interest in and a need for alternative therapeutic approaches. Results: We studied the cytotoxic activity of anti-thyroperoxidase autoantibodies (anti-TPO aAbs, expressed in baculovirus/insect cell (B4) and CHO cells (B4′) or purified from patients' sera) against a papillary thyroid cancer (NPA) cell line. Anti-TPO aAbs from patients' sera led to a partial d...

  7. Subcutaneous administration of human C1 inhibitor with recombinant human hyaluronidase in patients with hereditary angioedema.

    Science.gov (United States)

    Riedl, Marc A; Lumry, William R; Li, H Henry; Banerji, Aleena; Bernstein, Jonathan A; Ba, Murat; Bjrkander, Janne; Magerl, Markus; Maurer, Marcus; Rockich, Kevin; Chen, Hongzi; Schranz, Jennifer

    2016-11-01

    The currently approved method of C1 inhibitor (C1 INH) administration for patients with hereditary angioedema with C1 INH deficiency (HAE) is by intravenous injection. A C1 INH subcutaneous formulation may provide an attractive mode of administration for some patients. To evaluate efficacy and safety of two doses of subcutaneous, plasma-derived C1 INH with the dispersing agent, recombinant human hyaluronidase (rHuPH20) to prevent angioedema attacks in patients with HAE. A randomized, double-blind, dose-ranging, crossover study, patients 12 years of age (n = 47) with a confirmed diagnosis of HAE were randomly assigned to receive subcutaneous injections of 1000 U C1 INH with 24,000 U rHuPH20 or 2000 U C1 INH with 48,000 U rHuPH20 every 3 or 4 days for 8 weeks and then crossed-over for another 8-week period. The primary efficacy end point was the number of angioedema attacks during each treatment period. The study was terminated early as a precaution related to non-neutralizing antibodies to rHuPH20 in 45% of patients. The mean standard deviation number of angioedema attacks during the 8-week treatment periods were 1.58 1.59 with 1000 U C1 INH and 0.97 1.26 with 2000 U. The mean (95% confidence interval [CI]) within-patient difference (2000 U-1000 U, respectively) was 0.61 (95% CI, 1.23 to 0.01) attacks per month (p = 0.0523), and 0.56 (95% CI, 1.06 to 0.05) attacks that required acute treatment, (p = 0.0315). No deaths or other serious adverse events were reported. Injection-site reaction was the most common adverse event. Despite early termination, this study demonstrated a clinically and statistically significant difference in burden of disease, which favored 2000 U C1 INH, without associated serious adverse events.

  8. Characterization and vectorization of siRNA targeting RET/PTC1 in human papillary thyroid carcinoma cells

    Directory of Open Access Journals (Sweden)

    Massade L.

    2011-10-01

    Full Text Available RET/PTC1 fusion oncogene is the most common genetic alteration identified to date in thyroid papillary carcinomas (PTC and represents a good target for small interfering RNA (siRNA. Our aim was: i to target the RET/PTC1 oncogene by siRNAs, ii to assess the knockdown effects on cell growth and cell cycle regulation and iii to vectorize it in order to protect it from degradation. Methods. Human cell lines expressing RET/PTC1 were transfected by siRNA RET/PTC1, inhibition of the oncogene expression was assessed by qRT-PCR and by Western blot. Conjugation of siRNA RET/PTC1 to squalene was performed by coupling it to squalene. In vivo studies are performed in nude mice. Conclusion. In this short communication, we report the main published results obtained during last years.

  9. Molecular biology methods in assessing radiation-induced hereditary risks in humans

    Energy Technology Data Exchange (ETDEWEB)

    Kiuru, A. [University of Helsinki, Department of Biosciences, Division of Genetics, Helsinki (Finland)

    2004-12-01

    Effort to predict the genetic consequences for humans of exposure to ionising radiation has been one of the most important issues of human genetics over the past 60 years. To date, there has been little experimental knowledge on the genetic risks of human exposure to ionising radiation. Radiation-induced deleterious hereditary effects have not been detected in human populations - not even among the offspring of atomic bomb survivors in Hiroshima and Nagasaki. This does not mean deleterious hereditary effects do not exist in humans, but rather that they are small and/or difficult to detect because the normal incidence of inherited abnormalities is quite high in the human population. Thus, assessment of radiation-induced hereditary risks in humans has been based on the common knowledge of human heredity and on animal experiments. However, recent data have suggested that hyper-variable tandem repeat minisatellite loci provide a useful and sensitive experimental approach for monitoring radiation-induced germline mutations in humans. In order to investigate the feasibility of the minisatellite mutation screening system in assessing radiation-induced hereditary risks in humans, we examined the amount of hereditary minisatellite mutations among the offspring of Estonian Chernobyl cleanup workers. The men studied received a median radiation dose of 109 mSv while working on the cleanup activities after the Chernobyl accident. We compared the minisatellite mutation rates of 155 children born to 147 Estonian Chernobyl cleanup workers after the accident to those of their 148 siblings born prior to it. In addition, 44 Estonian families, where the father had not been exposed to radiation, composed an additional control group. In all of these families, the paternity of the children was ascertained by using 5 minisatellite loci (APOB, HRAS, MCOB19, MCT118, and YNZ-22) in PCR-based analyses. Other 8 minisatellite loci (B6.7, CEB1, CEB15, CEB25, CEB36, MS1, MS31, and MS32) were used

  10. Hereditary spherocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Weed, R.I.

    1975-10-01

    Studies of the clinical features of hereditary spherocytosis since 1871 and laboratory investigation of the cellular abnormalities since 1940 have led to the characterization of hereditary spherocytosis as a prime example of a Mendelian dominant, genetically determined disorder of the erythrocyte membrane. This review of hereditary spherocytosis emphasizes the contributions of Dr. Lawrence Young and many others to our present understanding of the disease and discusses current studies of the protein abnormality in the membrane of hereditary spherocytes.

  11. Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.

    Science.gov (United States)

    Lux, S E; Tse, W T; Menninger, J C; John, K M; Harris, P; Shalev, O; Chilcote, R R; Marchesi, S L; Watkins, P C; Bennett, V

    1990-06-21

    Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic anaemias. HS red cells from both autosound dominant and recessive variants are spectrin-deficient, which correlates with the severity of the disease. Some patients with recessive HS have a mutation in the spectrin alpha-2 domain (S.L.M. et al., unpublished observations), and a few dominant HS patients have an unstable beta-spectrin that is easily oxidized, which damages the protein 4.1 binding site and weakens spectrin-actin interactions. In most patients, however, the cause of spectrin deficiency is unknown. The alpha- and beta-spectrin loci are on chromosomes 1 and 14 respectively. The only other genetic locus for HS is SPH2, on the short arm of chromosome 8 (8p11). This does not correspond to any of the known loci of genes for red cell membrane proteins including protein 4.1 (1p36.2-p34), the anion exchange protein (AE1, band 3; 17q21-qter), glycophorin C (2q14-q21), and beta-actin (7pter-q22). Human erythrocyte ankyrin, which links beta-spectrin to the anion exchange protein, has recently been cloned. We now show that the ankyrin gene maps to chromosome 8p11.2, and that one copy is missing from DNA of two unrelated children with severe HS and heterozygous deletions of chromosome 8 (del(8)(p11-p21.1)). Affected red cells are also ankyrin-deficient. The data suggest that defects or deficiency or ankyrin are responsible for HS at the SPH2 locus.

  12. Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.

    Science.gov (United States)

    Oppelt, Sarah A; Sennott, Erin M; Tolan, Dean R

    2015-03-01

    The rise in fructose consumption, and its correlation with symptoms of metabolic syndrome (MBS), has highlighted the need for a better understanding of fructose metabolism. To that end, valid rodent models reflecting the same metabolism as in humans, both biochemically and physiologically, are critical. A key to understanding any type of metabolism comes from study of disease states that affect such metabolism. A serious defect of fructose metabolism is the autosomal recessive condition called hereditary fructose intolerance (HFI), caused by mutations in the human aldolase B gene (Aldob). Those afflicted with HFI experience liver and kidney dysfunction after fructose consumption, which can lead to death, particularly during infancy. With very low levels of fructose exposure, HFI patients develop non-alcoholic fatty acid liver disease and fibrosis, sharing liver pathologies also seen in MBS. A major step toward establishing that fructose metabolism in mice mimics that of humans is reported by investigating the consequences of targeting the mouse aldolase-B gene (Aldo2) for deletion in mice (Aldo2(-/-)). The Aldo2(-/-) homozygous mice show similar pathology following exposure to fructose as humans with HFI such as failure to thrive, liver dysfunction, and potential morbidity. Establishing that this mouse reflects the symptoms of HFI in humans is critical for comparison of rodent studies to the human condition, where this food source is increasing, and increasingly controversial. This animal should provide a valuable resource for answering remaining questions about fructose metabolism in HFI, as well as help investigate the biochemical mechanisms leading to liver pathologies seen in MBS from high fructose diets.

  13. Identification of new biomarkers for human papillary thyroid carcinoma employing NanoString analysis.

    Science.gov (United States)

    Chitikova, Zhanna; Pusztaszeri, Marc; Makhlouf, Anne-Marie; Berczy, Margaret; Delucinge-Vivier, Celine; Triponez, Frederic; Meyer, Patrick; Philippe, Jacques; Dibner, Charna

    2015-05-10

    We previously reported an upregulation of the clock transcript BMAL1, correlating with TIMP1 expression in fresh-frozen samples from papillary thyroid carcinoma (PTC). Since frozen postoperative biopsy samples are difficult to obtain, we aimed to validate the application of high-precision NanoString analysis for formalin-fixed paraffin-embedded (FFPE) thyroid nodule samples and to screen for potential biomarkers associated with PTC. No significant differences were detected between fresh-frozen and FFPE samples. NanoString analysis of 51 transcripts in 17 PTC and 17 benign nodule samples obtained from different donors and in 24 pairs of benign and PTC nodules, obtained from the same donor (multinodular goiters), confirmed significant alterations in the levels of BMAL1, c-MET, c-KIT, TIMP1, and other transcripts. Moreover, we identified for the first time alterations in CHEK1 and BCL2 levels in PTC. A predictive score was established for each sample, based on the combined expression levels of BMAL1, CHEK1, c-MET, c-KIT and TIMP1. In combination with BRAF mutation analysis, this predictive score closely correlated with the clinicopathological characteristics of the analyzed thyroid nodules. Our study identified new thyroid transcripts with altered levels in PTC using the NanoString approach. A predictive score correlation coefficient might contribute to improve the preoperative diagnosis of thyroid nodules.

  14. Array CGH demonstrates characteristic aberration signatures in human papillary thyroid carcinomas governed by RET/PTC.

    Science.gov (United States)

    Unger, K; Malisch, E; Thomas, G; Braselmann, H; Walch, A; Jackl, G; Lewis, P; Lengfelder, E; Bogdanova, T; Wienberg, J; Zitzelsberger, H

    2008-07-31

    The aim of this study is to investigate additional genetic alterations in papillary thyroid carcinomas (PTCs) with known RET/PTC rearrangements. We applied array-based comparative genomic hybridization (array CGH) to 33 PTC (20 PTC from adults, 13 post-Chernobyl PTC from children) with known RET/PTC status. Principal component analysis and hierarchical cluster analysis identified cases with similar aberration patterns. Significant deviations between tumour-groups were obtained by statistical testing (Fisher's exact test in combination with Benjamini-Hochberg FDR-controlling procedure). FISH analysis on FFPE sections was applied to validate the array CGH data. Deletions were found more frequently in RET/PTC-positive and RET/PTC-negative tumours than amplifications. Specific aberration signatures were identified that discriminated between RET/PTC-positive and RET/PTC-negative cases (aberrations on chromosomes 1p, 3q, 4p, 7p, 9p/q, 10q, 12q, 13q and 21q). In addition, childhood and adult RET/PTC-positive cases differ significantly for a deletion on the distal part of chromosome 1p. There are additional alterations in RET/PTC-positive tumours, which may act as modifiers of RET activation. In contrast, alterations in RET/PTC-negative tumours indicate alternative routes of tumour development. The data presented serve as a starting point for further studies on gene expression and function of genes identified in this study.

  15. New Treatment of Medullary and Papillary Human Thyroid Cancer: Biological Effects of Hyaluronic Acid Hydrogel Loaded With Quercetin Alone or in Combination to an Inhibitor of Aurora Kinase.

    Science.gov (United States)

    Quagliariello, Vincenzo; Armenia, Emilia; Aurilio, Caterina; Rosso, Francesco; Clemente, Ottavia; de Sena, Gabriele; Barbarisi, Manlio; Barbarisi, Alfonso

    2016-08-01

    The aim of this paper is based on the use of a hyaluronic acid hydrogel of Quercetin tested alone and in combination to an inhibitor of Aurora Kinase type A and B (SNS-314) on human medullary and papillary thyroid cancer cells. Biological investigations were focused on the cellular uptake of the hydrogel, cell viability, antioxidant, and cytokines secretion studies. Quercetin delivered from hydrogel show a time and CD44 dependent interaction with both cell lines with significant anti-inflammatory effects. Combination of Quercetin and SNS-314 leads to a synergistic cytotoxic effect on medullary TT and papillary BCPAP cell lines with a significant reduction of the IC50 value. These results, highlights the importance of synergistic effect of the hyaluronic acid hydrogel of Quercetin with SNS-314 in the regulation of human thyroid cancer cell proliferation and emphasize the anti-tumor activity of these molecules. J. Cell. Physiol. 231: 1784-1795, 2016. © 2015 Wiley Periodicals, Inc.

  16. Dog as a model in studies on human hereditary diseases and their gene therapy.

    Science.gov (United States)

    Switonski, Marek

    2014-03-01

    During the last 15 years spectacular progress has been achieved in knowledge on the dog genome organization and the molecular background of hereditary diseases in this species. A majority of canine genetic diseases have their counterparts in humans and thus dogs are considered as a very important large animal model in human biomedicine. Among canine monogenic diseases with known causative gene mutations there are two large groups classified as retinal dystrophies and lysosomal storage diseases. Specific types of these diseases are usually diagnosed in a single or several breeds. A well known disorder, restricted to a single breed, is congenital stationary night blindness described in Briards. This disease is a counterpart of Leber amaurosis in children. On the other hand, one of the most common monogenic human diseases (Duchenne muscular dystrophy), has its canine counterparts in several breeds (e.g., the Golden retriever, Beagle and German short-haired pointer). For some of the canine diseases gene therapy strategy was successfully applied, e.g., for congenital stationary night blindness, rod-cone dystrophy and muccopolysaccharydoses type I, IIIB and VII. Since phenotypic variability between the breeds is exceptionally high, the dog is an interesting model to study the molecular background of congenital malformations (e.g., dwarfism and osteoporosis imperfecta). Also disorders of sexual development (DSD), especially testicular or ovotesticular DSD (78,XX; SRY-negative), which is widely distributed across dozens of breeds, are of particular interest. Studies on the genetic background of canine cancers, a major health problem in this species, are also quite advanced. On the other hand, genetic studies on canine counterparts of major human complex diseases (e.g., obesity, the metabolic syndrome and diabetes mellitus) are still in their infancy.

  17. Abnormal polyamine metabolism in hereditary muscular dystrophies: effect of human growth hormone.

    Science.gov (United States)

    Rudman, D; Kutner, M H; Chawla, R K; Goldsmith, M A

    1980-01-01

    Previous studies showed hyperre-sponsiveness to human growth hormone (hGH) in men with myotonic or limb girdle dystrophies (MMD or LGD). Because polyamines may mediate some actions of hGH, we have now investigated polyamine metabolism in these and other dystrophies. Under metabolic balance study conditions, serum and urine levels of putrescine (Pu), spermidine (Sd), spermine (Sm), and cadaverine (Cd) were measured in six normal men (36-44 yr), four men with MMD (38-44 yr), and three men with LGD (30-36 yr), before and during treatment with 0.532 U/kg body wt ((3/4)/d) of hGH. Daily balances of N, P, and K were also monitored. In the normal subjects, hGH did not influence elemental balances or serum and urine polyamines. In MMD, hGH caused significant retention of N, P, and K (P muscular dystrophy, age 8-13, did not differ from those in five age-matched normal boys. Skeletal muscle polyamines were measured in five men (31-40 yr) without muscle disease and in three men with LGD (30-38 yr). Average concentrations of Pu, Sd, Sm, and Cd were 46, 306, 548, and 61 nmol/g wet wt in LGD and 1, 121, 245, and 14 in the normal subjects, respectively (P muscular dystrophy and in age- and sex-matched normal controls. Pu, Sd, Sm, and Cd levels were two to three times higher than normal in muscle, but did not differ in liver, kidney, and brain. Similar findings were made in male hamsters with hereditary dystrophy and in their controls. The abnormality in hamster muscle polyamines appeared between 1 and 6 wk of age and persisted or intensified until 30 wk. These data reveal abnormalities of polyamine metabolism in men with MMD, in men with LGD, and in mice or hamsters with hereditary muscular dystrophy. The polyamine disorder could be related to dystrophic patients' hyperresponsiveness to hGH.

  18. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

    Science.gov (United States)

    Tolan, D R

    1995-01-01

    Mutations in the human aldolase B gene that result in hereditary fructose intolerance have been characterized extensively. Although the majority of subjects have been from northern Europe, subjects from other geographical regions and ethnic groups have been identified. At present 21 mutations have been reported; 15 of these are single base substitutions, resulting in nine amino acid replacements, four nonsense codons, and two putative splicing defects. Two large deletions, two four-base deletions, a single-base deletion, and a seven-base deletion/one-base insertion have been found. This last mutation leads to a defect in splicing and it is likely that one of the small deletions does as well. Regions of the enzyme where mutations have been observed recurrently are encoded by exons 5 and 9. Indeed, the three most common mutations are found in these exons. Two of these prevalent HFI mutations arose from a common ancestor and spread throughout the population by genetic drift. This finding was based on linkage to two sequence polymorphisms, which are among very few informative polymorphic markers that have been identified within the aldolase B gene. Because of the prevalence of a few HFI alleles, and the recent advances in molecular methods for identifying and screening for mutation, the diagnosis of HFI by molecular screening methods should become routine. These molecular diagnostic methods will be extremely beneficial for this often difficult to diagnose and sometimes fatal disease.

  19. Thyroid cancer - papillary carcinoma

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000331.htm Thyroid cancer - papillary carcinoma To use the sharing features on ... the lower neck. Causes About 80% of all thyroid cancers diagnosed in the United States are the papillary ...

  20. RET/PTC Translocations and Clinico-Pathological Features in Human Papillary Thyroid Carcinoma.

    Science.gov (United States)

    Romei, Cristina; Elisei, Rossella

    2012-01-01

    Thyroid carcinoma is the most frequent endocrine cancer accounting for 5-10% of thyroid nodules. Papillary histotype (PTC) is the most prevalent form accounting for 80% of all thyroid carcinoma. Although much is known about its epidemiology, pathogenesis, clinical, and biological behavior, the only documented risk factor for PTC is the ionizing radiation exposure. Rearrangements of the Rearranged during Transfection (RET) proto-oncogene are found in PTC and have been shown to play a pathogenic role. The first RET rearrangement, named RET/PTC, was discovered in 1987. This rearrangement constitutively activates the transcription of the RET tyrosine-kinase domain in follicular cell, thus triggering the signaling along the MAPK pathway and an uncontrolled proliferation. Up to now, 13 different types of RET/PTC rearrangements have been reported but the two most common are RET/PTC1 and RET/PTC3. Ionizing radiations are responsible for the generation of RET/PTC rearrangements, as supported by in vitro studies and by the evidence that RET/PTC, and particularly RET/PTC3, are highly prevalent in radiation induced PTC. However, many thyroid tumors without any history of radiation exposure harbor similar RET rearrangements. The overall prevalence of RET/PTC rearrangements varies from 20 to 70% of PTCs and they are more frequent in childhood than in adulthood thyroid cancer. Controversial data have been reported on the relationship between RET/PTC rearrangements and the PTC prognosis. RET/PTC3 is usually associated with a more aggressive phenotype and in particular with a greater tumor size, the solid variant, and a more advanced stage at diagnosis which are all poor prognostic factors. In contrast, RET/PTC1 rearrangement does not correlate with any clinical-pathological characteristics of PTC. Moreover, the RET protein and mRNA expression level did not show any correlation with the outcome of patients with PTC and no correlation between RET/PTC rearrangements and the

  1. A humanized mouse model of hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.

    Science.gov (United States)

    Lee, Seong Min; Goellner, Joseph J; O'Brien, Charles A; Pike, J Wesley

    2014-11-01

    The syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a genetic disease of altered mineral homeostasis due to mutations in the vitamin D receptor (VDR) gene. It is frequently, but not always, accompanied by the presence of alopecia. Mouse models that recapitulate this syndrome have been prepared through genetic deletion of the Vdr gene and are characterized by the presence of rickets and alopecia. Subsequent studies have revealed that VDR expression in hair follicle keratinocytes protects against alopecia and that this activity is independent of the protein's ability to bind 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]. In the present study, we introduced into VDR-null mice a human VDR (hVDR) bacterial artificial chromosome minigene containing a mutation that converts leucine to serine at amino acid 233 in the hVDR protein, which prevents 1,25(OH)2D3 binding. We then assessed whether this transgene recreated features of the HVDRR syndrome without alopecia. RT-PCR and Western blot analysis in one strain showed an appropriate level of mutant hVDR expression in all tissues examined including skin. The hVDR-L233S mutant failed to rescue the aberrant systemic and skeletal phenotype characteristic of the VDR null mouse due to the inability of the mutant receptor to activate transcription after treatment with 1,25(OH)2D3. Importantly, however, neither alopecia nor the dermal cysts characteristic of VDR-null mice were observed in the skin of these hVDR-L233S mutant mice. This study confirms that we have created a humanized mouse model of HVDRR without alopecia that will be useful in defining additional features of this syndrome and in identifying potential novel functions of the unoccupied VDR.

  2. R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.

    Science.gov (United States)

    Henninger, B; Rauch, S; Zoller, H; Plaikner, M; Jaschke, W; Kremser, C

    2017-04-01

    To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry. 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. All underwent 1.5T magnetic resonance imaging (MRI) of the abdomen. A fat-saturated multi-gradient echo sequence with 12 echoes (TR=200ms; TE-initial 0.99ms; Delta-TE 1.41ms; 12 echoes; flip-angle: 20°) was used for the R2* quantification of the liver and the pancreas. Parameter maps were analyzed using regions of interest (3 in the liver and 2 in the pancreas) and R2* values were correlated. 59/81 patients had a liver R2*≥70 1/s of which 10/59 patients had a pancreas R2*≥50 1/s. No patient presented with a liver R2*pancreas R2*≥50 1/s. All patients with pancreas R2* values≥50 1/s had liver R2* values≥70 1/s. ROC analysis resulted in a threshold of 209.4 1/s for liver R2* values to identify HFE positive patients with pancreas R2* values≥50 1/s with a median specificity of 78.87% and a median sensitivity of 90%. In patients with HHC R2* relaxometry of the pancreas should be performed when liver iron overload is present and can be omitted in cases with no sign of hepatic iron. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. [Hereditary hemocromatosis].

    Science.gov (United States)

    Franchini, Massimo; Veneri, Dino

    2004-10-01

    Hereditary hemochromatosis is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for the detection of subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of hereditary hemochromatosis. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.

  4. Hereditary pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Richard M Charnley

    2003-01-01

    Hereditary pancreatitis is an autosomal dominant condition,which results in recurrent attacks of acute pancreatitis,progressing to chronic pancreatitis often at a young age.The majority of patients with hereditary pancreatitis expressone of two mutations (R122H or N29I) in the cationictrypsinogen gene (PRSS1 gene). It has been hypothesisedthat one of these mutations, the R122H mutation causespancreatitis by altering a trypsin recognition site sopreventing deactivation of trypsin within the pancreas andprolonging its action, resulting in autodigestion. Families withthese two mutations have been identified in many countriesand there are also other rarer mutations, which have alsobeen linked to hereditary pancreatitis.Patients with hereditary pancreatitis present in the sameway as those with sporadic pancreatitis but at an earlierage. It is common for patients to remain undiagnosed formany years, particularly ifthey present with non-specificsymptoms. Hereditary pancreatitis should always beconsidered in patients who present with recurrent pancreatitiswith a family history of pancreatic disease. If patients withthe 2 common mutations are compared, those with theR122H mutation are more likely to present at a younger ageand are more likely to require surgical intervention than thosewith N29I. Hereditary pancreatitis carries a 40 % lifetimerisk of pancreatic cancer with those patients aged between50 to 70 being most at risk in whom screening tests maybecome important.

  5. Hereditary Diffuse Gastric Cancer

    Science.gov (United States)

    ... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 11/2015 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is an inherited ...

  6. Recombinant Human C1 Esterase Inhibitor in the Management of Hereditary Angioedema

    OpenAIRE

    Riedl, Marc

    2015-01-01

    Hereditary angioedema (HAE), a rare autosomal dominant genetic disorder, is caused by a deficiency in functional C1 esterase inhibitor (C1-INH). This potentially life-threatening condition manifests as recurrent attacks of subcutaneous and submucosal swelling of the skin, gastrointestinal tract and larynx. The management of HAE includes treatment of acute episodes, short-term prophylaxis in preparation for exposure to known triggers and long-term prophylaxis to decrease the incidence and seve...

  7. Hereditary spherocytosis.

    Science.gov (United States)

    Iolascon, A; Avvisati, R A; Piscopo, C

    2010-09-01

    Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen. Hereditary spherocytosis, including the very mild or subclinical forms, is the most common cause of non-immune hemolytic anemia among people of Northern European ancestry, with a prevalence of approximately 1 in 2000. However very mild forms of the disease may be much more common. Hereditary spherocytosis is inherited in a dominant fashion in 75% of cases, whereas the remaining are truly recessive cases and de novo mutations. This review reports current concepts on red cell membrane structure and it will attempt to clarify molecular defects leading to spherocyte and their consequences.

  8. Hereditary angioedema

    DEFF Research Database (Denmark)

    Peterson, M P; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims...

  9. Hereditary Angioedema

    DEFF Research Database (Denmark)

    Abdel-Karim, Omar; Dizdarevic, Adis; Bygum, Anette

    2014-01-01

    Hereditary angioedema is an inherited disease that causes periodic swelling attacks, which can be life threatening and have a major effect on a patient's life. Studies have shown that home therapy for angioedema reduces disease severity, leads to faster relief of symptoms, and improves quality...

  10. Hereditary hyperbilirubinemias

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2014-01-01

    Full Text Available Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

  11. Renal papillary necrosis

    Directory of Open Access Journals (Sweden)

    Stephen A. Geller

    2013-12-01

    Full Text Available In 1877, Dr. Nikolaus Friedreich (1825-1882; student of Virchow who became Professor of Pathology at Heidelberg and who also described Friedreich’s ataxia first described renal papillary necrosis (RPN in patients with prostatic hypertrophy and secondary hydronephrosis. Thereafter in 1937, Froboese and Günther emphasized the association of this entity with diabetes mellitus. These authors also observed renal papillary necrosis in cases of urinary tract obstruction even in the absence of diabetes mellitus.

  12. Papillary thyroid carcinoma

    DEFF Research Database (Denmark)

    Godballe, C; Asschenfeldt, P; Sørensen, J A;

    1994-01-01

    The age influence on the prognosis of papillary thyroid carcinoma was analyzed in a group of 67 patients. A marked decline in cause-specific survival was found for patients older than 60 years of age at the time of diagnosis. In order to find a tumor-biological explanation of the prognostic...... invasion and distant metastases. The results indicate that 60 years of age the time of diagnosis may be the "prognostic break-point" for papillary thyroid carcinoma....

  13. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animalmodels for the human genetic disorder hereditary tyrosinemia type 1

    Energy Technology Data Exchange (ETDEWEB)

    Aponte, Jennifer [University of Tennessee, Knoxville (UTK); Sega, Gary A [ORNL; Hauser, Loren John [ORNL; Dhar, Madhu [University of Tennessee, Knoxville (UTK); Withrow, Catherine [ORNL; Carpenter, D A [ORNL; Rinchik, Eugene M. [University of Tennessee, Knoxville (UTK) & Oak Ridge National Laboratory (ORNL); Culiat, Cymbeline T [ORNL; Johnson, Dabney K [ORNL

    2001-01-01

    Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that disrupt tyrosine catabolism. An acute form of HT1 results in death during the first months of life because of hepatic failure, whereas a chronic form leads to gradual development of liver disease often accompanied by renal dysfunction, childhood rickets, neurological crisis, and hepatocellular carcinoma. Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney. Here we report that two independent, postnatally lethal mutations induced by N-ethyl-N-nitrosourea and mapped near Tyr are alleles of Fah. The Fah6287SB allele is a missense mutation in exon 6, and Fah5961SB is a splice mutation causing loss of exon 7, a subsequent frameshift in the resulting mRNA, and a severe reduction of Fah mRNA levels. Increased levels of the diagnostic metabolite succinylacetone in the urine of the Fah6287SB and Fah5961SB mutants indicate that these mutations cause a decrease in Fah enzymatic activity. Thus, the neonatal phenotype present in both mutants is due to a deficiency in Fah caused by a point mutation, and we propose Fah5961SB and Fah6287SB as mouse models for acute and chronic forms of human HT1, respectively.

  14. Aging alters functionally human dermal papillary fibroblasts but not reticular fibroblasts: a new view of skin morphogenesis and aging.

    Directory of Open Access Journals (Sweden)

    Solène Mine

    Full Text Available Understanding the contribution of the dermis in skin aging is a key question, since this tissue is particularly important for skin integrity, and because its properties can affect the epidermis. Characteristics of matched pairs of dermal papillary and reticular fibroblasts (Fp and Fr were investigated throughout aging, comparing morphology, secretion of cytokines, MMPs/TIMPs, growth potential, and interaction with epidermal keratinocytes. We observed that Fp populations were characterized by a higher proportion of small cells with low granularity and a higher growth potential than Fr populations. However, these differences became less marked with increasing age of donors. Aging was also associated with changes in the secretion activity of both Fp and Fr. Using a reconstructed skin model, we evidenced that Fp and Fr cells do not possess equivalent capacities to sustain keratinopoiesis. Comparing Fp and Fr from young donors, we noticed that dermal equivalents containing Fp were more potent to promote epidermal morphogenesis than those containing Fr. These data emphasize the complexity of dermal fibroblast biology and document the specific functional properties of Fp and Fr. Our results suggest a new model of skin aging in which marked alterations of Fp may affect the histological characteristics of skin.

  15. Papillary eccrine adenoma

    Directory of Open Access Journals (Sweden)

    Laxmisha Chandrashekar

    2004-01-01

    Full Text Available A 28-year-old man came to us with a solitary skin colored, mildly tender nodule of 6 months duration on the dorsum of the right hand. On histological examination, multiple dilated ducts without apparent continuity with the surface were found in the dermis. These dilated ducts had branching tubules with eosinophilic amorphous material filling most of the lumina. The peripheral cells of the tubules resembled myoepithelial cells, whereas the luminal border cells were cuboidal or low columnar. Papillary projections arising from the inner cells were seen extending into the lumen. These features were diagnostic of a rare tumor, papillary eccrine adenoma.

  16. Hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Meenakshi Kalyan

    2014-01-01

    Full Text Available Hereditary spherocytosis (HS is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. We present a 32-year-old male who presented with anemia, jaundice, splenomegaly, and gallstones. Seven of his family members had similar illness in the past. The Mother died of similar illness at the age of 40. The Blood film showed spherocytosis and reticulocytosis. There was increased osmotic fragility and a negative direct coomb′s test. He was given folic acid supplements and was advised for splenectomy and cholecystectomy. This case is reported due to its rarity in Indian population.

  17. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families

    Energy Technology Data Exchange (ETDEWEB)

    Suchi, Mariko; Mizuno, Haruo; Tsuboi, Takashi [Nagoya City Univ. Medical School (Japan)] [and others

    1997-03-01

    Uridine monophosphate (UMP) synthase is a bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT) and orotidine-5{prime}-monophosphate decarboxylase (ODC). Loss of either enzymatic activity results in hereditary orotic aciduria, a rare autosomal recessive disorder characterized by retarded growth, anemia, and excessive urinary excretion of orotic acid. We have isolated the UMP synthase chromosomal gene from a {lambda}EMBL-3 human genomic library and report a single-copy gene spanning {approximately}15 kb. The UMP synthase genomic structure encodes six exons ranging in size from 115 bp to 672 bp, and all splicing junctions adhere to the canonical GT/AG rule. Cognate promoter elements implicated in glucocorticoid- and cAMP-mediated regulation as well as in liver-, myeloid-, and lymphocyte-specific expression are located within the 5{prime} flanking sequence. Molecular investigation of UMP synthase deficiency in a Japanese orotic aciduria patient revealed mutations R96G (A- to-G transition; nt 286) and G429R (G-to-C transversion; nt 1285) in one allele and V109G (T-to-G transversion; nt 326) in the other allele. Expression of human UMP synthase cDNAs containing these mutations in pyrimidine auxotrophic Escherichia coli and in recombinant baculovirus-infected Sf21 cells demonstrates impaired activity presumably associated with the urinary orotic acid substrate accumulations observed in vivo. We further establish the identity of two polymorphisms, G213A ({nu} = .26) and 440 Gpoly ({nu} = .27) located in exons 3 and 6, respectively, which did not significantly compromise either OPRT or ODC function. 76 refs., 5 figs., 7 tabs.

  18. Treatment of hereditary optic neuropathies.

    Science.gov (United States)

    Newman, Nancy J

    2012-10-01

    The hereditary optic neuropathies are inherited disorders in which optic nerve dysfunction is a prominent feature in the phenotypic expression of disease. Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. The pathophysiological mechanisms underlying the hereditary optic neuropathies involve mitochondrial dysfunction owing to mutations in mitochondrial or nuclear DNA that encodes proteins essential to mitochondrial function. Effective treatments are limited, and current management includes therapies directed at enhancing mitochondrial function and preventing oxidative damage, as well as genetic counselling, and supportive and symptomatic measures. New therapies, including gene therapy, are emerging via animal models and human clinical trials. Leber hereditary optic neuropathy, in particular, provides a unique model for testing promising treatments owing to its characteristic sequential bilateral involvement and the accessibility of target tissue within the eye. Lessons learned from treatment of the hereditary optic neuropathies may have therapeutic implications for other disorders of presumed mitochondrial dysfunction. In this Review, the natural history of the common inherited optic neuropathies, the presumed pathogenesis of several of these disorders, and the literature to date regarding potential therapies are summarized.

  19. Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans

    Directory of Open Access Journals (Sweden)

    Takeshi Nishino

    2012-11-01

    Full Text Available Xanthine oxidoreductase (XOR catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O2. The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR due to genetic defect in the molybdenum cofactor sulfurase. Molybdenum cofactor deficiency is associated with triple deficiency of XOR, AO and sulfite oxidase, due to defective synthesis of molybdopterin, which is a precursor of molybdenum cofactor for all three enzymes. The present review focuses on mutation or chemical modification studies of mammalian XOR, as well as on XOR mutations identified in humans, aimed at understanding the reaction mechanism of XOR and the relevance of mutated XORs as models to estimate the possible side effects of clinical application of XOR inhibitors.

  20. [Hereditary fructose intolerance (author's transl)].

    Science.gov (United States)

    Thanner, F

    1977-07-01

    Hereditary fructose intolerance (HFI) is the most important disturbance in human fructose metabolism. This paper deals with the present knowledge of biochemistry and pathophysiology of this inborn error of metabolism, which is often wrongly diagnosed and gives a detailed description of diagnostic and therapeutic procedures.

  1. A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans.

    Science.gov (United States)

    Goebel, Katie; Merner, Nancy D

    2017-05-01

    Canines are excellent models for cancer studies due to their similar physiology and genomic sequence to humans, companion status and limited intra-breed heterogeneity. Due to their affliction to mammary cancers, canines can serve as powerful genetic models of hereditary breast cancers. Variants within known human breast cancer susceptibility genes only explain a fraction of familial cases. Thus, further discovery is necessary but such efforts have been thwarted by genetic heterogeneity. Reducing heterogeneity is key, and studying isolated human populations have helped in the endeavour. An alternative is to study dog pedigrees, since artificial selection has resulted in extreme homogeneity. Identifying the genetic predisposition to canine mammary tumours can translate to human discoveries - a strategy currently underutilized. To explore this potential, we reviewed published canine mammary tumour genetic studies and proposed benefits of next generation sequencing canine cohorts to facilitate moving beyond incremental advances.

  2. Development of human skin equivalents mimicking skin aging : contrast between papillary and reticular fibroblasts as a lead

    NARCIS (Netherlands)

    Janson, D.

    2017-01-01

    This thesis describes the development of human skin equivalents that show characteristics of skin aging. The type of skin equivalent used was a fibroblast derived matrix equivalent, in which the dermal compartment is generated by fibroblasts and thus is fully of human origin. Two strategies are

  3. Coexistence of Hashimoto's thyroiditis and papillary thyroidal carcinoma with papillary carcinoma of thyreoglossal duct

    Directory of Open Access Journals (Sweden)

    Čizmić Milica

    2007-01-01

    Full Text Available Background. Simultaneous presence of Hashimoto's thyroiditis and papillary thyroidal carcinoma in thyroidal gland with papillary carcinoma association in thyroglossal duct is quite rare. The questions like where the original site of primary process, is where metastasis is, what the cause of coexisting of these diseasesis present a diagnostic dilemma. Case report. We presented a case of a 53-year old female patient, with the diagnosis of Hashimoto's thyroiditis and symptoms of subclinical hypothyreosis and nodal changes in the right lobe of thyroidal gland, according to clinical investigation. Morphological examination of thyroidal gland, ultrasound examination and scintigraphy with technetium (Tc confirmed the existence of nonhomogenic tissue with parenchyma nodular changes in the right lobe of thyroidal gland that weakly bonded Tc. Fine needle biopsy in nodal changes, with cytological analyses showed no evidence of atypical thyreocites. Hashimoto's thyroiditis was confirmed on the basis of the increased values of anti-microsomal antibodies, the high levels of thyreogobulin 117 ng/ml and TSH 6.29 μIU/ml. The operation near by the nodular change in the right lobe of thyroidal gland revealed pyramidal lobe spread in the thyroglossal duct. Total thyroidectomia was done with the elimination of thyroglossal duct. Final patohystological findings showed papillary carcinoma in the nodal changes pT2, N0 and in the thyroglossal duct with the presence of Hashimoto's thyroiditis in the residual parenchyme of the thyroid gland. After the surgery the whole body scintigraphy with iodine 131 (131I did not reveal accumulation of 131I in the body, while the fixation in the neck was 1%. After that, the patient was treated with thyroxin with suppressionsubstitution doses. Conclusion. Abnormality in embrional development of thyroidal tissue might be the source of thyroidal carcinoma or the way of spreading of metastasis of primary thyroidal carcinoma from thyroid

  4. [Diagnosis of hereditary angioedema].

    Science.gov (United States)

    Bouillet, Laurence

    2015-01-01

    Hereditary angioedema is a rare disease, potentially life-threatening. It requires a specific treatment. Angioedema without wheals associated with abdominal attacks are very specific of this disease. Antigenemy and functional C1Inhibitor assays are necessary for the diagnosis. The hereditary angioedema with normal C1Inh (type III) is a diagnostic challenge. Bradykinin, secondary to kallikrein-kinin system activation is the key mediator of hereditary angioedema. Female are more symptomatic. Attacks can be induced by menstruations, pregnancies or contraceptive pills.

  5. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  6. Characterization of novel non-clonal intrachromosomal rearrangements between the H4 and PTEN genes (H4/PTEN) in human thyroid cell lines and papillary thyroid cancer specimens

    Energy Technology Data Exchange (ETDEWEB)

    Puxeddu, Efisio [Division of Endocrinology and Metabolism, University of Cincinnati College of Medicine, PO Box 670547, Cincinnati, OH 45267-0547 (United States); Zhao Guisheng [Division of Endocrinology and Metabolism, University of Cincinnati College of Medicine, PO Box 670547, Cincinnati, OH 45267-0547 (United States); Stringer, James R. [Department of Molecular Genetics, University of Cincinnati College of Medicine, PO Box 670547, Cincinnati, OH 45267-0547 (United States); Medvedovic, Mario [Center for Biostatistic Service, University of Cincinnati College of Medicine, PO Box 670547, Cincinnati, OH 45267-0547 (United States); Moretti, Sonia [Dipartimento di Medicina Interna, Universita degli Studi di Perugia, Via E. dal Pozzo, Perugia 06126, (Italy); Fagin, James A. [Division of Endocrinology and Metabolism, University of Cincinnati College of Medicine, PO Box 670547, Cincinnati, OH 45267-0547 (United States)]. E-mail: james.fagin@uc.edu

    2005-02-15

    The two main forms of RET rearrangement in papillary thyroid carcinomas (PTC) arise from intrachromosomal inversions fusing the tyrosine kinase domain of RET with either the H4 (RET/PTC1) or the ELE1/RFG genes (RET/PTC3). PTEN codes for a dual-specificity phosphatase and maps to chromosome 10q22-23. Germline mutations confer susceptibility to Cowden syndrome whereas somatic mutations or deletions are common in several sporadic human tumors. Decreased PTEN expression has been implicated in thyroid cancer development. We report the characterization of a new chromosome 10 rearrangement involving H4 and PTEN. The initial H4/PTEN rearrangement was discovered as a non-specific product of RT-PCR for RET/PTC1 in irradiated thyroid cell lines. Sequencing revealed a transcript consisting of exon 1 and 2 of H4 fused with exons 3-6 of PTEN. Nested RT-PCR with specific primers bracketing the breakpoints confirmed the H4/PTEN rearrangements in irradiated KAT-1 and KAT-50 cells. Additional H4/PTEN variants, generated by recombination of either exon 1 or exon 2 of H4 with exon 6 of PTEN, were found in non-irradiated KAK-1, KAT-50, ARO and NPA cells. Their origin through chromosomal recombination was confirmed by detection of the reciprocal PTEN/H4 product. H4/PTEN recombination was not a clonal event in any of the cell lines, as Southern blots with appropriate probes failed to demonstrate aberrant bands, and multicolor FISH of KAK1 cells with BAC probes for H4 and PTEN did not show a signal overlap in all cells. Based on PCR of serially diluted samples, the minimal frequency of spontaneous recombination between these loci was estimated to be approximately 1/10{sup 6} cells. H4/PTEN products were found by nested RT-PCR in 4/14 normal thyroid tissues (28%) and 14/18 PTC (78%) (P < 0.01). H4/PTEN is another example of recombination involving the H4 locus, and points to the high susceptibility of thyroid cells to intrachromosomal gene rearrangements. As this also represents a

  7. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

    Science.gov (United States)

    Santamaria, R; Esposito, G; Vitagliano, L; Race, V; Paglionico, I; Zancan, L; Zagari, A; Salvatore, F

    2000-09-15

    We have identified a novel hereditary fructose intolerance mutation in the aldolase B gene (i.e. liver aldolase) that causes an arginine-to-glutamine substitution at residue 303 (Arg(303)-->Gln). We previously described another mutation (Arg(303)-->Trp) at the same residue. We have expressed the wild-type protein and the two mutated proteins and characterized their kinetic properties. The catalytic efficiency of protein Gln(303) is approx. 1/100 that of the wild-type for substrates fructose 1,6-bisphosphate and fructose 1-phosphate. The Trp(303) enzyme has a catalytic efficiency approx. 1/4800 that of the wild-type for fructose 1,6-bisphosphate; no activity was detected with fructose 1-phosphate. The mutation Arg(303)-->Trp thus substitution impairs enzyme activity more than Arg(303)-->Gln. Three-dimensional models of wild-type, Trp(303) and Gln(303) aldolase B generated by homology-modelling techniques suggest that, because of its larger size, tryptophan exerts a greater deranging effect than glutamine on the enzyme's three-dimensional structure. Our results show that the Arg(303)-->Gln substitution is a novel mutation causing hereditary fructose intolerance and provide a functional demonstration that Arg(303), a conserved residue in all vertebrate aldolases, has a dominant role in substrate binding during enzyme catalysis.

  8. Inflammatory papillary hyperplasia: A systematic review

    Science.gov (United States)

    Gual-Vaqués, Patricia; Jané-Salas, Enric; Egido-Moreno, Sonia; Ayuso-Montero, Raúl; Marí-Roig, Antoni

    2017-01-01

    Introduction Inflammatory papillary hyperplasia (IPH) is a benign lesion of the palatal mucosa. It is usually found in denture-wearers but also has been reported in patients without a history of use of a maxillary prosthesis use. Objetives The aim of this study is to review the literature to assess the prevalence of denture stomatitis and inflammatory papillary hyperplasia and the etiological factors associated. Material and Methods A search was carried out in PubMed (January 2005 to October 2015) with the key words “inflammatory papillary hyperplasia”, “denture stomatitis”, “granular stomatitis” and “Newton’s type III” The inclusion criteria were studies including at least a sample of 50 apparently healthy patients, articles published from 2005 to 2015 written in English. The exclusion criteria were reviews and non-human studies. Results Out of the 190 studies obtained initially from the search 16 articles were selected to be included in our systematic review. The prevalence of denture stomatitis was 29.56% and 4.44% for IPH. We found 5 cases of denture stomatitis among non-denture-wearer individuals. All IPH cases were associated with the use of prosthesis. Smoking and continued use of ill-fitting dentures turned out to be the most frequent risk factors for developing IPH. Conclusions IPH is a rare oral lesion and its pathogenesis still remains unclear. Its presentation among non-denture-wearers is extremely unusual. Key words:Inflammatory papillary hyperplasia, denture stomatitis, prevalence, granular stomatitis, Newton’s type III stomatitis. PMID:27918740

  9. [The role of the immune system in hereditary demyelinating neuropathies].

    Science.gov (United States)

    Mäurer, M; Toyka, K V; Martini, R

    2005-06-01

    Hereditary neuropathies, e.g., Charcot-Marie-Tooth (CMT) disease, are inherited diseases of the peripheral nervous system causing chronic progressive motor and sensory dysfunction. Most neuropathies are due to mutations in myelin genes such as PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several forms of hereditary neuropathies and are important neurobiological tools for the evaluation of pathogenetic and therapeutic concepts in hereditary neuropathies. Using these animal models we could recently show that the immune system is involved in the pathogenesis of hereditary neuropathies. Due to the phenotypic similarities we also consider the immune system important for human inherited neuropathies, in particular since several case reports demonstrate a beneficial effect of immune therapies in patients with hereditary neuropathies. In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies.

  10. Hereditary urea cycle abnormality

    Science.gov (United States)

    ... vitro so the specific genetic cause is known. Teamwork between parents, the affected child, and doctors can help prevent severe illness. Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Images Male urinary system Urea cycle References Lichter-Konecki ...

  11. Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age : implications for surveillance

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; Badeloe, Sadhanna; Oosting, Sjoukje F.; Hovenga, Sjoerd; Semmelink, Harry J. F.; van Moorselaar, R. Jeroen A.; van Waesberghe, Jan Hein; Mensenkamp, Arjen R.; Menko, Fred H.

    2012-01-01

    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation

  12. Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

    NARCIS (Netherlands)

    Spaendonck-Zwarts, K.Y. van; Badeloe, S.; Oosting, S.F.; Hovenga, S.; Semmelink, H.J.; Moorselaar, R.J. van; Waesberghe, J.H. van; Mensenkamp, A.R.; Menko, F.H.

    2012-01-01

    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation

  13. Notch-1信号通路与甲状腺乳头状癌的关系%The Relationship of Notch-1 Signaling Pathway with Human Papillary Carcinoma of Thyroid

    Institute of Scientific and Technical Information of China (English)

    杨晶金; 姚军; 沈峰清; 陈佳玉; 杨林军; 张强; 金晓燕; 梁勇

    2012-01-01

    To approach the role of Notch-1 signaling pathway in the pathological development of hu-man papillary carcinoma of thyroid, the expression levels of Notch-1, Hesl and c-Myc mRNA were determined by Real Time PCR in 35 specimen of human papillary carcinoma of thyroid and 35 specimen of normal thyroid tissues around the nodular goiter. The Notch-1, NICD, Hesl and c-Myc protein levels were determined by immu-nohistochemistry and Western blot. The expression of Notch-1 and Hesl was significantly lower in the papillary carcinoma of thyroid than that in the normal thyroid tissues, but the expression of c-Myc was higher in the papillary carcinoma of thyroid. It suggested that Notch-1 and Hesl may play a role in the pathological development of human papillary carcinoma of thyroid, and the expression of oncogene c-Myc may be unconcerned with the Notch-1 signaling pathway.%研究Notch-1信号通路中Notch-1、NICD、Hes1、c-Myc与人甲状腺乳头状癌的关系,探讨Notch-1信号通路在甲状腺乳头状癌中的分子机制.对照人甲状腺乳头状癌及正常甲状腺组织标本各35例,采用Real Time PCR检测Notch-1、Hes1、c-Myc的mRNA表达情况,采用免疫组织化学、Western blot方法检测组织标本中Notch-1、NICD、Hes1、c-Myc蛋白的表达情况.Notch-1、Hes1在甲状腺乳头状癌中的mRNA表达水平明显降低,c-Myc rnRNA的表达在甲状腺乳头状癌中升高,Notch-1、NICD、Hes1蛋白在人甲状腺乳头状癌中的表达低于正常甲状腺组织p<0.05),c-Myc蛋白在甲状腺乳头状癌中的表达高于正常甲状腺组织(P<0.05).甲状腺乳头状癌组织标本中,Notch-1信号通路中Notch-1、NICD、Hes1在基因转录和蛋白质表达水平上均明显下调,而c-Myc的基因转录和蛋白质表达水平均升高,提示Notch-1信号通路在甲状腺乳头状癌的发生发展中起抑癌作用,c-Myc基因表达升高与Notch-1信号通路可能无关.

  14. [Developments in hereditary neuropathies].

    Science.gov (United States)

    Dubourg, O

    2012-12-01

    Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.

  15. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized.

  16. Is Pancreatic Cancer Hereditary?

    Science.gov (United States)

    ... gene testing for hereditary pancreatitis is now available. Ataxia telangiectasia The team at Johns Hopkins discovered that inherited ... are known to cause the clinical syndrome of "ataxia telangiectasia," and 2-3% of people with familial pancreatic ...

  17. Hereditary Gingival Fibromatosis

    Science.gov (United States)

    Nevin, N. C.

    1971-01-01

    Case studies of two siblings suffering from a gum disorder in which enlargement of the gingival mucosa is caused by a fibrosis. The disorder in the two children was felt to be an hereditary recessive trait. (CD)

  18. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    ... and Its Implications Meeting A 1997 ELSI Report Learning About Hereditary Hemochromatosis What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Iron Overload ...

  19. Selumetinib in Treating Patients With Papillary Thyroid Cancer That Did Not Respond to Radioactive Iodine

    Science.gov (United States)

    2016-12-02

    Recurrent Thyroid Gland Carcinoma; Stage I Thyroid Gland Papillary Carcinoma; Stage II Thyroid Gland Papillary Carcinoma; Stage III Thyroid Gland Papillary Carcinoma; Stage IV Thyroid Gland Papillary Carcinoma

  20. Human Plasma-Derived, Nanofiltered, C1-Inhibitor Concentrate (Cinryze®), a Novel Therapeutic Alternative for the Management of Hereditary Angioedema Resulting from C1-Inhibitor Deficiency

    National Research Council Canada - National Science Library

    Farkas, Henriette; Varga, Lilian

    2012-01-01

    Hereditary angioedema resulting from the deficiency of the C1 inhibitor (HAE-C1-INH) is a rare, but potentially life-threatening disorder characterized by paroxysmal episodes of subcutaneous or submucosal edema...

  1. Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.

    Directory of Open Access Journals (Sweden)

    Lydia K Muranova

    Full Text Available Physico-chemical properties of the mutations G34R, P39L and E41K in the N-terminal domain of human heat shock protein B1 (HspB1, which have been associated with hereditary motor neuron neuropathy, were analyzed. Heat-induced aggregation of all mutants started at lower temperatures than for the wild type protein. All mutations decreased susceptibility of the N- and C-terminal parts of HspB1 to chymotrypsinolysis. All mutants formed stable homooligomers with a slightly larger apparent molecular weight compared to the wild type protein. All mutations analyzed decreased or completely prevented phosphorylation-induced dissociation of HspB1 oligomers. When mixed with HspB6 and heated, all mutants yielded heterooligomers with apparent molecular weights close to ~400 kDa. Finally, the three HspB1 mutants possessed lower chaperone-like activity towards model substrates (lysozyme, malate dehydrogenase and insulin compared to the wild type protein, conversely the environmental probe bis-ANS yielded higher fluorescence with the mutants than with the wild type protein. Thus, in vitro the analyzed N-terminal mutations increase stability of large HspB1 homooligomers, prevent their phosphorylation-dependent dissociation, modulate their interaction with HspB6 and decrease their chaperoning capacity, preventing normal functioning of HspB1.

  2. Fast capillary electrophoresis-laser induced fluorescence analysis of ligase chain reaction products: human mitochondrial DNA point mutations causing Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Muth, J; Williams, P M; Williams, S J; Brown, M D; Wallace, D C; Karger, B L

    1996-12-01

    High speed capillary electrophoresis-laser-induced fluorescence (CE-LIF) has been used to separate and detect point mutations using the ligase chain reaction (LCR). The method utilizes short capillary columns (7.5 cm effective length) and fields of 400 V/cm to analyze DNA-ethidium bromide complexes using an He/Ne laser. The method was first demonstrated with a commercially available kit for LCR based on a lacI gene fragment inserted in a Bluescript II phagemid. LCR-CE-LIF was then applied to detect point mutations in human mitochondrial DNA, resulting in Leber's hereditary optic neuropathy (LHON). Three severe mutations were analyzed in which the original base is substituted by a thymidine base at positions 3460, 11778 and 14459. Appropriate primers were designed with polyT tails for length discrimination of pooled samples. Successful detection of mutated samples was achieved, with appropriate correction for small amounts of nonspecific ligated product. The method is rapid, easy to implement, and automatable.

  3. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... InfoSearch: Hereditary angioedema MalaCards: c1 inhibitor deficiency Merck Manual Professional Version Orphanet: Hereditary angioedema Patient Support and Advocacy Resources (2 links) International Patient Organization for C1 Inhibitor Deficiencies National Organization for Rare ...

  4. Papillary thyroid microcarcinoma might progress during pregnancy.

    Science.gov (United States)

    Shindo, Hisakazu; Amino, Nobuyuki; Ito, Yasuhiro; Kihara, Minoru; Kobayashi, Kaoru; Miya, Akihiro; Hirokawa, Mitsuyoshi; Miyauchi, Akira

    2014-05-01

    Papillary thyroid cancer occasionally occurs in women of childbearing age. As papillary thyroid microcarcinoma (PTMC) rarely grows or becomes clinically apparent, observation without surgery is an appropriate strategy for patients with low-risk PTMC. Human chorionic gonadotropin possesses weak thyroid-stimulating activity. The aim of this study was to assess the effect of pregnancy on PTMC. We studied 9 patients with PTMC who became pregnant between 2005 and 2011. Twenty-seven age-matched nonpregnant female PTMC patients from a database we used in our previous report served as controls. Tumor enlargement was defined as an increase in the diameter of the tumor of 3 mm or more. PTMC enlargement occurred in 44.4% (4/9 patients) of the pregnant subjects, whereas it occurred only in 11.1% (3/27 patients) of the controls (p=0.0497). Three of the pregnant patients who exhibited tumor enlargement underwent surgery after delivery. No relationship was detected between the changes in the serum thyroglobulin level, the serum thyrotropin level, and tumor size during pregnancy. Immunohistochemical examinations did not detect the estrogen receptor in the tumors of the three patients who underwent surgery. This study is an initial report indicating that the risk of PTMC enlargement might increase during pregnancy. PTMC should be carefully followed-up for possible disease aggravation during pregnancy. Even if a PTMC enlarges during pregnancy, the patient's prognosis will probably not worsen.

  5. 84 Immuno-Safety of Recombinant Human C1 Inhibitor in Patients With Hereditary Angioedema: An Integrated Analysis

    Science.gov (United States)

    Hack, Erik; Relan, Anurag; Kaufman, Leonard; Pijpstra, Rienk

    2012-01-01

    Background Recombinant C1 inhibitor (rhC1INH) is a novel therapeutic option for the treatment of acute angioedema attacks in patients with hereditary angioedema (HAE). The amino acid sequence of rhC1INH is identical to that of endogenous C1INH. However, any recombinant protein may elicit antibodies against the protein and/or host related impurities (HRI). Clinical consequences of these antibodies can theoretically range from no clinical symptoms to allergic reactions and reduced C1INH activity due to neutralizing antibodies. Objective To analyze the immuno-safety of rhC1INH in symptomatic patients with HAE. Methods Plasma samples were collected pre-treatment and 22 and 90 days post-treatment of an acute angioedema attack. Plasma samples were tested for the presence of antibodies against plasma-derived C1INH and rhC1INH using 6 different, validated enzyme-linked immunosorbent assays (ELISAs), to detect IgM, IgG and IgA antibodies against plasma-derived C1INH or rhC1INH. Antibodies against HRI in plasma samples were measured in an ELISA testing for all antibody classes. Plasma samples from normal healthy controls and HAE patients, never exposed to rhC1INH, were used to estimate cut off levels of the assays. Plasma samples with antibody levels above the cut-off level in the screening assays were tested in confirmatory displacement assay in case of anti-HRI antibodies and in an assay for neutralizing antibodies in case of antibodies against C1INH. Results Data from 155 symptomatic HAE patients having received a total of 424 administrations of rhC1INH were analyzed. The frequency of anti-C1INH antibody levels above the assay cut-off was low and similar in pre- and post-exposure samples (1.7 and 1.8%, respectively). Results above the assay cut-off were sporadic and transient. Occurrence of anti-C1INH antibodies did not correlate with repeated treatment or time since last treatment. No neutralizing antibodies were detected. A total of 5/155 (3%) rhC1INH-treated patients

  6. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  7. Managing hereditary ovarian cancer

    NARCIS (Netherlands)

    Mourits, M. J.; de Bock, G. H.

    2009-01-01

    In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting early-s

  8. Understanding Hereditary Angioedema

    Science.gov (United States)

    ... INH) in their blood or this C1-INH protein does not function appropriately. These forms of hereditary angioedema are different ... In addition to a physical examination and medical history, HAE is diagnosed by measuring the level and function of C1-INH in the blood. Living with ...

  9. Hereditary Angioedema in Childhood

    DEFF Research Database (Denmark)

    Kjaer, Line; Bygum, Anette

    2012-01-01

    Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history...

  10. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  11. Papillary thyroid carcinoma in children and adolescents.

    Science.gov (United States)

    Chung, Bo Mi; Park, Sung Hee; Kim, Soo Jin; Seo, Jae Seung; Kim, Yang Soo; Shim, Hyung Jin; Lee, Jong Beum

    2014-09-01

    Differentiated thyroid carcinoma is uncommon in children and constitutes 0.5% to 3% of all pediatric malignancies. Few studies have reported imaging findings of childhood papillary thyroid carcinomas. We report 3 cases of papillary thyroid carcinomas in children. Among the 3 patients, the youngest was a 7-year-old girl. In the current report, we describe 2 cases of classic papillary thyroid carcinoma and 1 case of pediatric diffuse sclerosing variant of papillary thyroid carcinoma. The ultrasonographic features and diagnostic procedures in these pediatric patients are similar to those in adults.

  12. Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.

    Science.gov (United States)

    Nefedova, Victoria V; Datskevich, Petr N; Sudnitsyna, Maria V; Strelkov, Sergei V; Gusev, Nikolai B

    2013-08-01

    Some physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathy were analyzed. Mutation K141Q did not affect intrinsic Trp fluorescence and interaction with hydrophobic probe bis-ANS, whereas mutation R140G decreased both intrinsic fluorescence and fluorescence of bis-ANS bound to HspB1. Both mutations decreased thermal stability of HspB1. Mutation R140G increased, whereas mutation K141Q decreased the rate of trypsinolysis of the central part (residues 5-188) of HspB1. Both the wild type HspB1 and its K141Q mutant formed large oligomers with apparent molecular weight ∼560 kDa. The R140G mutant formed two types of oligomers, i.e. large oligomers tending to aggregate and small oligomers with apparent molecular weight ∼70 kDa. The wild type HspB1 formed mixed homooligomers with R140G mutant with apparent molecular weight ∼610 kDa. The R140G mutant was unable to form high molecular weight heterooligomers with HspB6, whereas the K141Q mutant formed two types of heterooligomers with HspB6. In vitro measured chaperone-like activity of the wild type HspB1 was comparable with that of K141Q mutant and was much higher than that of R140G mutant. Mutations of homologous hot-spot Arg (R140G of HspB1 and R120G of αB-crystallin) induced similar changes in the properties of two small heat shock proteins, whereas mutations of two neighboring residues (R140 and K141) induced different changes in the properties of HspB1.

  13. The ret/ptc1 oncogene is activated in familial adenomatous polyposis-associated thyroid papillary carcinomas.

    Science.gov (United States)

    Cetta, F; Chiappetta, G; Melillo, R M; Petracci, M; Montalto, G; Santoro, M; Fusco, A

    1998-03-01

    Familial adenomatous polyposis (FAP) is caused by germ-line mutations of the apc gene, and it is associated with an increased risk of developing papillary thyroid carcinomas. We have previously reported that a significant fraction of sporadic human papillary thyroid carcinomas is characterized by gene rearrangements affecting the ret protooncogene. These rearrangements generate chimeric transforming oncogenes designated ret/ptc. By a combined immunohistochemical and RT-PCR approach, we analyzed, for ret/ptc oncogene activation, papillary thyroid carcinomas occurred in two FAP kindreds, both showing typical apc gene mutations. Kindred 1 had seven members affected by FAP, and among these, three patients showed papillary thyroid carcinomas. Kindred 2 had two patients, mother and daughter, affected by colonic polyposis; the 20-yr-old daughter showed also a papillary carcinoma. Here we report that ret/ptc1 oncogene was activated in two of the three papillary carcinomas of FAP kindred 1 and in the papillary carcinoma of FAP kindred 2. These findings document that loss of function of apc coexists with gain of function of ret in some papillary thyroid carcinomas, suggesting that ret/ptc1 oncogene activation could be a progression step in the development of FAP-associated thyroid tumors.

  14. [Hereditary peripheral neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Tazir, Mériem; Calvo, Judith; Funalot, Benoît

    2009-09-01

    Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of these hereditary neuropathies, with a prevalence of 4.7 to 36 per 100 000. In its demyelinating forms (CMT1), approximately 70% of cases are associated with a duplication of the PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North African patients with recessive transmission, a mutation of the LMNA gene must be sought. It is essential to stress the great variability of the phenotype--clinical, electrophysiological, and histologic--between and within families. A detailed analysis of these criteria, together with consideration of ethnic origin, may guide the search for the causal mutation. Whether the case involves certainly hereditary transmission or a sporadic form, it is desirable to be able to examine the maximum number of the patient's kin, both clinically and electrophysiologically. The forms with recessive transmission usually have a very early onset and are more serious than the dominant forms. The early- and very early-onset forms of CMT are increasingly better distinguished: congenital hypomyelination neuropathy (mutations of PMP22, MPZ or EGR2), or more axonal forms, including SMARD1 (Spinal muscle atrophy with respiratory distress; mutations of IGHMBP2) and EOHMSN (Early-onset hereditary motor and sensory neuropathy; mutations of MFN2). The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders.

  15. Papillary microcarcinoma of the thyroid gland

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Godballe, Christian; Krogdahl, Annelise

    2008-01-01

    INTRODUCTION: Papillary microcarcinomas (PMC) of the thyroid gland are defined according to The WHO Committee as papillary carcinomas measuring 10 mm or less in diameter. A large proportion of these tumours are found coincidentally in the treatment of symptomatic goitre and most cases follow...

  16. Coexistence of papillary carcinoma and Hashimoto's thyroiditis.

    Science.gov (United States)

    Matesa-Anić, Dubravka; Matesa, Neven; Dabelić, Nina; Kusić, Zvonko

    2009-03-01

    The aim of the study was to determine the incidence of coexistence of papillary carcinoma and Hashimoto's thyroiditis in cytologic material. Cytologic findings were collected from 10508 patients that underwent ultrasound-guided fine needle aspiration cytology (FNAC) of the thyroid. Hashimoto's thyroiditis was found in 2156 (20.5%) and papillary carcinoma in 269 (2.6%) of 10508 patients with FNAC, whereas both Hashimoto's thyroiditis and papillary carcinoma were present in 42 (0.4%) patients. Among patients with FNAC diagnosis of Hashimoto's thyroiditis, the prevalence of papillary carcinoma was 1.9%. Among patients with FNAC diagnosis of papillary carcinoma, the prevalence of Hashimoto's thyroiditis was 15.6%. There was no statistically significant association between the presence of papillary carcinoma and Hashimoto's thyroiditis in patients undergoing FNAC (p=0.0522). In conclusion, in a large series of patients, the incidence of Hashimoto's thyroiditis and papillary carcinoma coexistence in cytologic material was 0.4%. There was no statistically significant relationship between Hashimoto's thyroiditis and papillary carcinoma in cytologic material.

  17. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight into the t......Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  18. Hereditary neuropathies: An update.

    Science.gov (United States)

    Stojkovic, T

    2016-12-01

    Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Hereditary erythrocytosis, thrombocytosis and neutrophilia.

    Science.gov (United States)

    Hong, Wan-Jen; Gotlib, Jason

    2014-06-01

    Hereditary erythrocytosis, thrombocytosis, and neutrophilia are rare inherited syndromes which exhibit Mendelian inheritance. Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels. Secondary congenital erythrocytosis may be characterized by normal or high serum EPO levels, and is related to high oxygen affinity haemoglobin variants, mutation of the enzyme biphosphoglycerate mutase (BPGM), or defects in components of the oxygen-sensing pathway. Hereditary thrombocytosis was first linked to mutations in genes encoding thrombopoietin (THPO) or the thrombopoietin receptor, MPL. More recently, germline mutations in JAK2, distinct from JAK2 V617F, and mutation of the gelsolin gene, were uncovered in several pedigrees of hereditary thrombocytosis. Hereditary neutrophilia has been described in one family with an activating germline mutation in CSF3R. The mutational basis for most hereditary myeloproliferative disorders has yet to be identified. Copyright © 2014. Published by Elsevier Ltd.

  20. Rearranged anaplastic lymphoma kinase (ALK) gene found for the first time in adult-onset papillary thyroid cancer cases among atomic bomb survivors

    Energy Technology Data Exchange (ETDEWEB)

    Hamatani, K.; Mukai, M.; Takahashi, K.; Nakachi, K.; Kusunoki, Y. [Radiobiology/Molecular Epidemiology, Radiation Effects Research Foundation, Hiroshima (Japan); Hayashi, Y. [Geriatric Health Service Facility Hidamari, Hiroshima (Japan)

    2012-07-01

    Full text of the publication follows: Thyroid cancer is one of the malignancies most strongly associated with ionizing radiation in humans. Epidemiology studies of atomic bomb (A-bomb) survivors have indicated that excess relative risk of papillary thyroid cancer per Gy was remarkably high in the survivors. We therefore aim to clarify mechanisms linking A-bomb radiation exposure and development of papillary thyroid cancer. Toward this end, we intend to clarify characteristics of gene alterations occurring in radiation-associated adult-onset papillary thyroid cancer from the Life Span Study cohort of A-bomb survivors. We have thus far found that with increased radiation dose, papillary thyroid cancer cases with chromosomal rearrangements (mainly RET/PTC rearrangements) significantly increased and papillary thyroid cancer cases with point mutations (mainly BRAF-V600E) significantly decreased. Papillary thyroid cancer cases with non-detected gene alterations that carried no mutations in RET, NTRK1, BRAF or RAS genes tended to increase with increased radiation dose. In addition, we found that relative frequency of these papillary thyroid cancer cases significantly decreased with time elapsed since exposure. Through analysis of papillary thyroid cancer cases with non-detected gene alterations, we recently discovered a new type of rearrangement for the first time in papillary thyroid cancer, i.e., rearranged anaplastic lymphoma kinase (ALK) gene, although identification of any partner gene(s) is needed. Specifically, rearrangement of ALK was found in 10 of 19 exposed papillary thyroid cancer cases with non-detected gene alterations but not in any of the six non-exposed papillary thyroid cancer cases. Furthermore, papillary thyroid cancer with ALK rearrangement was frequently found in the cases with high radiation dose or with short time elapsed since A-bomb exposure. These results suggest that chromosomal rearrangement, typically of RET and ALK, may play an important

  1. Correlation between Urothelial Differentiation and Sensory Proteins P2X3, P2X5, TRPV1, and TRPV4 in Normal Urothelium and Papillary Carcinoma of Human Bladder

    Directory of Open Access Journals (Sweden)

    Igor Sterle

    2014-01-01

    Full Text Available Terminal differentiation of urothelium is a prerequisite for blood-urine barrier formation and enables normal sensory function of the urinary bladder. In this study, urothelial differentiation of normal human urothelium and of low and high grade papillary urothelial carcinomas was correlated with the expression and localization of purinergic receptors (P2X3, and P2X5 and transient receptor potential vanilloid channels (TRPV1, and TRPV4. Western blotting and immunofluorescence of uroplakins together with scanning electron microscopy of urothelial apical surface demonstrated terminal differentiation of normal urothelium, partial differentiation of low grade carcinoma, and poor differentiation of high grade carcinoma. P2X3 was expressed in normal urothelium as well as in low grade carcinoma and in both cases immunolabeling was stronger in the superficial cells. P2X3 expression decreased in high grade carcinoma. P2X5 expression was detected in normal urothelium and in high grade carcinoma, while in low grade carcinoma its expression was diminished. The expression of TRPV1 decreased in low grade and even more in high grade carcinoma when compared with normal urothelium, while TRPV4 expression was unchanged in all samples. Our results suggest that sensory proteins P2X3 and TRPV1 are in correlation with urothelial differentiation, while P2X5 and TRPV4 have unique expression patterns.

  2. 86 The Efficacy and Safety of Human Plasma-derived C1-Inhibitor Concentrate Administered for the Treatment of Attacks in Pediatric Patients with Hereditary Angioedema Due to C1-Inhibitor Deficiency

    OpenAIRE

    Farkas, Henriette; Csuka, Dorottya; Zotter, Zsuzsanna; Szabó, Erika; Kelemen, Zsuzsanna; Varga, Lilian; Fejes, János; Harmat, George

    2012-01-01

    Background Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) is a life-threatening, rare disease characterized by recurrent edematous attacks. In 50% of cases, the initial onset of symptoms occurs between 5 and 11 years of age. There are limited data on the emergency treatment of acute episodes in pediatric patients. Our aim was to analyze the efficacy and safety of human plasma-derived C1-INH concentrate in our pediatric patient population with HAE-C1-INH. Methods 50 pediatri...

  3. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions hereditary diffuse gastric cancer hereditary diffuse gastric cancer Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases ...

  4. The application of dermal papillary rings in dermatology by in vivo confocal laser scanning microscopy

    Science.gov (United States)

    Xiang, W. Z.; Xu, A. E.; Xu, J.; Bi, Z. G.; Shang, Y. B.; Ren, Q. S.

    2010-08-01

    Confocal laser scanning microscopy (CLSM) allows noninvasive visualization of human skin in vivo, without needing to fix or section the tissue. Melanocytes and pigmented keratinocytes at the level of the basal layer form bright dermal papillary rings which are readily amenable to identify in confocal images. Our purpose was to explore the role of dermal papillary rings in assessment of lesion location, the diagnosis, differential diagnosis of lesions and assessment of therapeutic efficacy by in vivo CLSM. Seventy-one patients were imaged with the VivaScope 1500 reflectance confocal microscope provided by Lucid, Inc. The results indicate that dermal papillary rings can assess the location of lesion; the application of dermal papillary rings can provide diagnostic support and differential diagnosis for vitiligo, nevus depigmentosus, tinea versicolor, halo nevus, common nevi, and assess the therapeutic efficacy of NBUVB phototherapy plus topical 0.1 percent tacrolimus ointment for vitiligo. In conclusion, our findings indicate that the dermal papillary rings play an important role in the assessment the location of lesion, diagnosis, differential diagnosis of lesions and assessment of therapeutic efficacy by in vivo CLSM. CLSM may be a promising tool for noninvasive examination in dermatology. However, larger studies are needed to expand the application of dermal papillary rings in dermatology.

  5. Human Plasma-Derived, Nanofiltered, C1-Inhibitor Concentrate (Cinryze®), a Novel Therapeutic Alternative for the Management of Hereditary Angioedema Resulting from C1-Inhibitor Deficiency

    OpenAIRE

    Farkas, Henriette; Varga, Lilian

    2012-01-01

    Hereditary angioedema resulting from the deficiency of the C1 inhibitor (HAE-C1-INH) is a rare, but potentially life-threatening disorder characterized by paroxysmal episodes of subcutaneous or submucosal edema. Early diagnosis is essential. Management is aimed at the prompt elimination of full-fledged attacks, as well as at the prevention of edematous episodes. The most straightforward means for therapy is supplementation with the deficient C1-INH protein. Placebo-controlled and open clinica...

  6. Hereditary angioedema in women

    Directory of Open Access Journals (Sweden)

    Bouillet Laurence

    2010-07-01

    Full Text Available Abstract Women with hereditary angioedema (HAE are more likely to be symptomatic that men. Hormonal factors (puberty, contraception, pregnancy,.... play a significant role in the precipitation or worsening of the condition in women. So, combined contraceptive pills are not indicated and progestogen pill must be preferred. During pregnancy, attack rate can increase (38-48% of women. C1Inhibitor concentrate and tranexamic acid can be used during pregnancy. Attenuated androgens for long term prophylaxis are effective but side effects appear more often in female patients. These side effects are dose dependant and can be attenuated by titrating the dose down the lowest effective level.

  7. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  8. Papillary fibroelastoma of the heart

    Directory of Open Access Journals (Sweden)

    Ahuja Janhvi

    2008-10-01

    Full Text Available Primary intra-cardiac tumors are rare. Most of them are benign. Of the benign tumors, myxomas are the most common. Others are lipoma, rhabdomyoma, hemangioma, and papillary fibroelastoma (PFE. PFE is a relatively rare benign tumor of the heart. It occurs commonly on cardiac valves and is often an incidental finding. They are most commonly discovered during autopsy, but may present with thromboembolism, which is a dreaded complication. It is important to be aware of this entity because even though it is benign it may present with life-threatening complications, which are well documented in literature. Surgery is the treatment of choice for these tumors. We present the case of a 30-year-old male in whom PFE was an incidental finding

  9. Warthin-like papillary thyroid carcinoma: a case report

    Directory of Open Access Journals (Sweden)

    Haeri H

    2013-02-01

    Full Text Available Background: Warthin tumor- like papillary carcinoma of thyroid is a rare variant of papillary thyroid carcinoma. It is characterized by distinct papillary structures lined by oncocytic tumor cells with nuclear features of papillary carcinoma and marked lymphoplasmocytic infiltrate in the papillary stalks. This tumor derives its name from its resemblance to Warthin tumor of major salivary glands.Case presentation: We report a 54- year- old man presented with bilateral thyroid masses. Histopathological study showed papillary structures lined by cells with eosinophilic granular cytoplasm and ground- glass nuclei with lymphoplasmacytic infiltration of the stalks.Conclusion: Warthin tumor-like papillary thyroid carcinoma could be mistaken for benign lymphoepithelial lesions such as Hashimoto thyroiditis, Hurthle cell tumors and tall cell variant of papillary carcinoma. Follow- up information on the previously reported cases has suggested that these tumors behave similarly to usual papillary carcinoma.

  10. Hereditary angioedema: Not an allergy

    Directory of Open Access Journals (Sweden)

    Sanjay Bhivgade

    2012-01-01

    Full Text Available Hereditary angioedema is a genetic disorder due to a deficiency or malfunction of C1 esterase inhibitor. We herein describe a case of 25-year-old male who presented with swelling over face since one day. There was history of similar episodes since two years with gradual subsidence of swelling without any treatment. Investigations revealed grossly reduced complement C4 and C1 esterase inhibitor level. Patient was diagnosed to have hereditary angioedema type 1 and started on stanozolol 2 mg three times a day with no recurrence in one year of follow-up. Hereditary angioedema resembles angioedema of an allergic reaction. However, the cause is different.

  11. Intraductal Papillary Mucinous Neoplasm of the Pancreas: An Update

    Directory of Open Access Journals (Sweden)

    Shu-Yuan Xiao

    2012-01-01

    Full Text Available Intraductal papillary mucinous neoplasm (IPMN is a cystic tumor of the pancreas. The etiology is unknown, but increasing evidence suggests the involvement of several tumorigenesis pathways, including an association with hereditary syndromes. IPMN occurs more commonly in men, with the mean age at diagnosis between 64 and 67 years old. At the time of diagnosis, it may be benign, with or without dysplasia, or frankly malignant with an invasive carcinoma. Tumors arising from the main pancreatic duct are termed main-duct IPMNs, those involving the branch ducts, branch-duct IPMNs. In general, small branch-duct IPMNs are benign, particularly in asymptomatic patients, and can be safely followed. In contrast, main-duct tumors should be surgically resected and examined carefully for an invasive component. In the absence of invasion, patient’s survival is excellent, from 94 to 100%. For patients with an IPMN-associated invasive carcinoma, the prognosis overall is better than those with a de novo pancreatic ductal adenocarcinoma, with a 5-year survival of 40% to 60% in some series. However, no survival advantage can be demonstrated if the invasive component in an IPMN patient is that of the conventional tubular type (versus mucinous carcinoma. Several histomorphologic variants are recognized, although the clinical significance of this “subtyping” is not well defined.

  12. Hereditary colorectal cancer diagnostics

    DEFF Research Database (Denmark)

    Klarskov, Louise; Holck, Susanne; Bernstein, Inge

    2012-01-01

    BackgroundThe hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease......-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid...... in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.Objective and methodsTo perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX...

  13. [Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Leo-Kottler, B; Wissinger, B

    2011-12-01

    Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.

  14. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  15. Hereditary Elliptocytosis with Pyropoikilocytosis

    Directory of Open Access Journals (Sweden)

    Turan Bayhan

    2016-03-01

    Full Text Available A 17-day-old boy was admitted because of jaundice and anemia. He was born weighing 2900 g subsequent to a term gestation as the fourth child of first-degree cousin parents. The previous history revealed the administration of phototherapy for 4 days starting from the first day of life. Complete blood count revealed hemoglobin (Hb of 6.9 g/dL, hematocrit of 19.8%, mean corpuscular volume (MCV of 87.5 fL, red cell distribution width (RDW of 37%, white blood cell count of 11.4x109/L, and platelet count of 263x109/L. Corrected reticulocyte count was 5.3%. Peripheral blood smear revealed polychromasia and pyropoikilocytosis. Direct antibody test was negative. Erythrocyte glucose-6-phosphate dehydrogenase, pyruvate kinase, and pyrimidine 5’ nucleotidase levels were normal. An erythrocyte transfusion was administered with a diagnosis of non-immune hemolytic anemia and the patient was discharged at the 26th day of life with initiation of folic acid. During his outpatient followup, he required erythrocyte transfusions 2 more times and the last transfusion was performed when he was 3 months old. At a visit 3 months after the last transfusion, his blood count was as follows: Hb of 9.5 g/dL, hematocrit of 28.2%, MCV of 68.2 fL, and RDW of 30.5%. Erythrocyte osmotic fragility was found to be normal and Hb electrophoresis revealed Hb F of 6.6% and Hb A2 of 1.7%. Upon physical examination he had mild jaundice and no splenomegaly. The parents’ blood counts were within normal ranges. Peripheral blood smear revealed prominent elliptocytes and occasional microcytic and fragmented erythrocytes with poikilocytosis (Figure 1. The clinical findings and laboratory results were diagnostic for the hereditary pyropoikilocytosis (HPP type of hereditary elliptocytosis (HE, but in vitro fragmentation testing was not performed

  16. Comparative analysis of gene expression profiles of papillary thyroid microcarcinoma and papillary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    Kim Hoon

    2010-01-01

    Full Text Available Purpose: Papillary thyroid carcinomas (PTCs measuring 1.0 cm or less were separately defined as papillary thyroid microcarcinomas (PTMs by the World Health Organization, emphasizing on their benign behavior. However, some reported that PTMs may have aggressive behavior, can cause regional, or even distant metastases. But till now, the characteristics of PTMs were only reviewed and described by the clinicopathological parameters, and no analysis of PTM by the gene level is available. We report on the gene expression profiles of PTMs by the oligonucleotide microarrays and the results of comparative analysis with those of PTCs. Materials and Methods: The gene expression profiles of 25 pairs of PTMs and their normal thyroid tissue counterparts, and 11 pairs of PTCs and their normal counterparts, were analyzed by Affymetrix Human Genome U133A. Data were analyzed by the SAM and the DAVID 2008 program to detect differentially expressed genes in supervised sample classification. Results: Two-hundred thirteen statistically significant up-regulated genes and -183 significant down-regulated genes of PTMs compared with their normal counterpart thyroid tissues, which were mainly cell adhesion-related genes and immune response genes, were detected. Two-hundred sixty-one up-regulated and -157 down-regulated genes of PTCs were also detected. In the comparative analyses of gene expression profiles of PTMs and PTCs, no significant difference was found. Conclusion: PTM should not be considered as the simple occult indolent thyroid cancer, but as the earlier stage of disease which eventually evolves into PTC, because the gene expression profiles of PTMs were not different from those of PTCs.

  17. Mutator gene and hereditary non-polyposis colorectal cancer

    Science.gov (United States)

    de la Chapelle, Albert; Vogelstein, Bert; Kinzler, Kenneth W.

    2008-02-05

    The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

  18. Villoglandular papillary adenocarcinoma of the uterine cervix with immunohistochemical characteristics.

    Science.gov (United States)

    Polat, A; Düsmez, D; Pata, O; Aydin, O; Egilmez, R

    2002-09-01

    Villoglandular papillary adenocarcinoma of uterine cervix has been recently described and to date fewer than a hundred cases have been reported in the world literature. Here we present a 38-year-old woman who underwent radical hysterectomy combined bilateral pelvic lymphoadenectomy and after 28 months postoperatively no lymph node metastasis and no evidence of recurrent disease ocurred. Immunohistochemically Ki-67 overexpression was detected in the tumour, with no immunoreactivity with p53, estrogen and progesteron receptors and broadly-reactive human papilloma virus including types 6, 11, 16, 18, 31, 33, 42, 51, 52, 56, and 58. In this paper, clinical, macroscopical, microscopical and immunohistochemical characteristics of this tumour are reviewed.

  19. Papillary thyroid microcarcinoma in Denmark 1996-2008

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Krogdahl, Annelise; Bastholt, Lars;

    2013-01-01

    With an observed general rise in papillary thyroid carcinoma incidence, papillary microcarcinoma (PMC) is accordingly found more frequently and often incidentally by histological examination of surgical specimens from presumed benign thyroid disease. Only a few studies have specifically addressed...

  20. Papillary thyroid microcarcinoma in Denmark 1996-2008

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Krogdahl, Annelise; Bastholt, Lars

    2013-01-01

    With an observed general rise in papillary thyroid carcinoma incidence, papillary microcarcinoma (PMC) is accordingly found more frequently and often incidentally by histological examination of surgical specimens from presumed benign thyroid disease. Only a few studies have specifically addressed...

  1. Renal Papillary Necrosis: Role of Radiology

    Science.gov (United States)

    Pandya, Vaidehi K.

    2016-01-01

    Renal Papillary Necrosis (RPN) is idefined as Ischemic necrobiosis of the papilla in the medulla of the kidneys. Variety of etiological factors are recognized which cause papillary necrosis, such as analgesic nephropathy, diabetes mellitus, urinary obstruction and sickle cell haemoglobinopathy. The early diagnosis of RPN is important to improve prognosis and reduce morbidity. Radiological Imaging offers early diagnosis and can guide prompt treatment of papillary necrosis and can minimize a decline in renal function. Here we report three cases of RPN with typical imaging findings. One of them was diabetic and hypertensive female with recurrent Urinary tract Infections and other was a male with no known co-morbidity. Both of them were diagnosed to have renal papillary necrosis on CT scan and were managed operatively and conservatively, respectively. Third case was a healthy female being investigated to be renal donor for her son. Here RPN was an incidental finding and was treated conservatively. Thus CT scan could detect it pre-operatively and complications due to transplantation of a kidney with papillary necrosis were avoided. So, we want to emphasize the importance of Radiology, particularly CT scanning in detection of RPN and to guide early and prompt treatment. PMID:26894147

  2. Left Atrium Papillary Fibroelastomas: A Cause of Cerebral Emboli

    Directory of Open Access Journals (Sweden)

    A. G. Ciss

    2012-01-01

    Full Text Available Papillary fibroelastomas are cardiac benign tumours. Among the benign cardiac tumor, papillary fibroelastomas are reported second after myxomas. Most often diagnosed incidentally, papillary fibroelastomas may embolize to cerebral circulation. Valvular locations are predominant; location in left atrium is rare. In this paper, we present a case of papillary fibroelastoma located in left atrium with symptoms of cerebral embolization. Transoesophageal echocardiography diagnosed a mobile mass. The patient was treated with surgical resection without further embolic complication.

  3. Intravascular papillary endothelial hyperplasia of the mandibular lingual mucosa

    Institute of Scientific and Technical Information of China (English)

    Benay Tokman; (S)ebnem (S)im(s)ek; Erkan Erkmen; Tülin Oygur

    2004-01-01

    @@ In 1923, Masson1 described an unusual papillary endothelial proliferation that he named as "hemangioendotheliome vegetant intravasculaire". In 1976, Clearkin and Enzinger2 coined the term intravascular papillary endothelial hyperplasia (IPEH) that is now in use. This term refers to the presence of endothelium lined papillary projections within a vascular space. Characteristically, the papillary structures are composed of a single layer of swollen or plump endothelial cells without cellular pleomorphism, mitotic activity or necrosis.

  4. [Hereditary phaeochromocytoma in twins].

    Science.gov (United States)

    Tóth, Géza; Patócs, Attila; Tóth, Miklós

    2016-08-01

    Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

  5. [Advances in hereditary hemochromatosis].

    Science.gov (United States)

    Nardi, Graciela; Cadiz, Claudia; Lachman, J; Cornelio, Cecilia

    2003-01-01

    Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.

  6. Adult hereditary fructose intolerance

    Institute of Scientific and Technical Information of China (English)

    Mohamed Ismail Yasawy; Ulrich Richard Folsch; Wolfgang Eckhard Schmidt; Michael Schwend

    2009-01-01

    Hereditary fructose intolerance (HFI) is an underrecognized,preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting,abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to Ⅳ fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  7. Adult hereditary fructose intolerance.

    Science.gov (United States)

    Yasawy, Mohamed Ismail; Folsch, Ulrich Richard; Schmidt, Wolfgang Eckhard; Schwend, Michael

    2009-05-21

    Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting, abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to IV fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  8. Bilateral pre-auricular papillary squamous cell carcinomas associated with papillomavirus infection in a domestic cat.

    Science.gov (United States)

    Munday, John S; Gwyther, Stacy; Thomson, Neroli A; Malik, Richard

    2017-04-01

    Cutaneous papillary squamous cell carcinomas (SCCs) are extremely rare in humans and have not been reported in any nonhuman species. In humans, oral papillary SCCs are often caused by papillomavirus infection and have a more favourable prognosis than other SCC subtypes. A 10-year-old ginger and white domestic short hair cat had a 12 month history of symmetrical, roughly circular, exophytic 2 cm diameter masses in both pre-auricular regions. Surgical excision was performed, although with only narrow margins. Histology of both masses revealed a proliferation of neoplastic keratinocytes arranged in numerous filiform projections that were supported by fibrovascular stalks. Although the cells were confined to the epidermis predominantly, nests of neoplastic cells were visible within the superficial dermis. The neoplastic cells demonstrated significant atypia with a variable nuclear:cytoplasmic ratio and a high mitotic index. A papillary subtype SCC was diagnosed. Felis catus papillomavirus type 2 (FcaPV-2) was the only papillomavirus detected in the masses and FcaPV-2 E6/E7 gene expression and p16(CDKN)(2A) protein immunostaining were detected. Six months after surgery neither recurrence nor further masses had developed. This is the first cutaneous papillary SCC reported in a nonhuman species. Papillary SCCs may be a rare manifestation of FcaPV-2 infection in cats. The unusual location of the SCCs suggests that both papillomavirus infection and ultraviolet light exposure could have contributed to neoplasia development. Evidence from this single case suggests that papillary SCCs may have a more favourable prognosis than conventional SCCs in cats. © 2016 ESVD and ACVD.

  9. Intragenic Duplication A Novel Mutational Mechanism in Hereditary Pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, M. T.; Geisz, A.; Brusgaard, K.

    2011-01-01

    OBJECTIVES: In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide...... pancreatitis. The accelerated activation of p.K23_I24insIDK by cathepsin B is a unique biochemical property not found in any other pancreatitis-associated trypsinogen mutant. In contrast, the robust autoactivation of the novel mutant confirms the notion that increased autoactivation is a disease......-relevant mechanism in hereditary pancreatitis....

  10. Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, Maiken T; Geisz, Andrea; Brusgaard, Klaus

    2011-01-01

    In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic...

  11. Hereditary pancreatitis: current perspectives

    Directory of Open Access Journals (Sweden)

    Raphael KL

    2016-07-01

    Full Text Available Kara L Raphael, Field F Willingham Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA Abstract: Hereditary pancreatitis (HP is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing. While the inheritance pathways of these genetic mutations may be variable and complex, sometimes involving coinheritance of other mutations, the clinical presentation of patients tends to be similar. Interactions with environmental triggers often play a role. Patients tend to present at an early age (prior to the second decade of life and have a significantly increased risk for the development of pancreatic adenocarcinoma. Patients with HP may develop sequelae of chronic pancreatitis such as strictures and fluid collections as well as exocrine and endocrine insufficiency. Management of patients with HP involves avoidance of environmental triggers, surveillance for pancreatic adenocarcinoma, medical therapy for endocrine and exocrine insufficiency, pain management, and endoscopic or surgical treatment for complications. Care for affected patients should be individualized, with an emphasis on early diagnosis and multidisciplinary involvement to develop a comprehensive treatment strategy. Keywords: pancreatic cancer, chronic pancreatitis, idiopathic pancreatitis, pancreatitis, familial pancreatitis, genetic mutations

  12. Comparison of Papillary Thyroid Carcinoma and Papillary Microcarcinoma in Terms of Clinical Features and Prognostic Factors

    OpenAIRE

    Hakan Korkmaz; Umut Elboğa; Ersin Akarsu; Mehmet Metin Sevim; Mesut Özkaya; Suzan Tabur; Suna Erkılıç; Avni Gökalp; Mustafa Araz

    2016-01-01

    Purpose: In this study, we compared papillary thyroid carcinoma (PTC) and papillary microcarcinoma (PMC) in terms of the clinical features and prognostic factors. For the choice of appropriate treatment method, we researched differences between PTC and PMC retrospectively. Material and Method: A total 714 patients 486 with PTC (68%) and 228 with PMC (32%) who were followed in our hospital were enrolled into the study. Age, sex, background, tumour variants, pathologic features, surgical pro...

  13. An update on hereditary angioedema.

    Science.gov (United States)

    Verdi, Marylee; Shaker, Marcus

    2011-01-01

    Hereditary angioedema affects approximately 1 in 50,000 individuals without gender or ethnic preference. Hereditary angioedema is caused by a decreased level (type I) or function (type II) of C1 inhibitor. Patients experience repeated episodes of angioedema involving sites that include the face, extremities, gastrointestinal tract, and larynx. Treatment involves measures to increase functioning levels of active C1 inhibitor through stimulation of endogenous pathways or exogenous supplementation. Additional therapies targeted at inhibition of bradykinin can also be used to treat episodes of angioedema. Treatment may be indicated for both acute episodes of angioedema and prevention of future episodes.

  14. [The significance of Goodpasture antigen in hereditary nephritis].

    Science.gov (United States)

    Basta-Jovanović, Gordana; Radojević-Skodrić, Sanja; Jovanović, Milena; Bogdanović, Ljiljana; Bogdanović, Radovan; Lezaić, Visnja; Nesić, Vidosava; Dikman, Steven

    2008-12-01

    Two types of hereditary nephritis, nonprogressive and progressive, clinically present as asymptomatic haematuria, sometimes combined with proteinuria. At the onset, in both types, light microscopic changes are minimal, immunofluorescence findings are negative, and diagnosis can be made only upon electron microscopic findings that are considered to be specific. The aim of this study was to determine the significance of Goodpasture antigen detection in diagnosis of progressive and nonprogressive hereditary nephritis in its early phase. Analysis of renal biopsy specimens was done in patients with hereditary nephritis that were followed from 1990 to 2005. Progression of renal disease was examined in 14 patients with Alport's syndrome, 10 patients with thin basement membrane disease, and 6 patients with unclassified hereditary nephritis diagnosed. For all these cases, indirect immunofluorescence study with serum from a patient with high titer of Goodpasture autoantibodies that recognize the antigenic determinants in human glomerular and tubular basement membrane was performed. In 11 out of 14 cases diagnosed as Alport's syndrome, there was negative staining with Goodpasture serum, and in 3 additional cases with Alport's syndrome, expression of Goodpasture antigen in glomerular basement membrane and thin basement membrane was highly reduced. In all 10 patients with thin basement membrane disease, immunofluorescence showed intensive, bright linear staining with Goodpasture serum along glomerular and tubular basement membrane. In 2 out of 6 patients with unclassified hereditary nephritis, Goodpasture antigen expression was very strong, in one patient it was very reduced, and in 3 patients it was negative. The results of our study show that Goodpasture antigen detection plays a very important role in differential diagnosis of progressive and nonpregressive hereditary nephritis, particularly in early phases of the disease.

  15. Histology of hereditary neuralgic amyotrophy.

    NARCIS (Netherlands)

    Alfen, N. van; Gabreëls-Festen, A.A.W.M.; Laak, H.J. ter; Arts, W.F.M.; Gabreëls, F.J.M.; Engelen, B.G.M. van

    2005-01-01

    We report the findings in five muscle and three sural nerve biopsies, and in one postmortem plexus specimen, from six patients with hereditary neuralgic amyotrophy (HNA). We found that the sensory nerves are definitely involved in HNA despite the mainly motor symptoms, and that lesions in nerves and

  16. Hereditary skin diseases of hemidesmosomes

    NARCIS (Netherlands)

    Jonkman, MF

    1999-01-01

    Studies of hereditary blistering skin diseases (epidermolysis bullosa) and targeted gene mutation experiments in knockout mice have greatly improved our understanding of hemidesmosomes and their associated structures in the cytoskeleton and basement membrane of the skin and mucous membranes. At leas

  17. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  18. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

    Science.gov (United States)

    Sparks, Susan E; Ciccone, Carla; Lalor, Molly; Orvisky, Eduard; Klootwijk, Riko; Savelkoul, Paul J; Dalakas, Marinos C; Krasnewich, Donna M; Gahl, William A; Huizing, Marjan

    2005-11-01

    Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis. We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains. To assess the effects of individual mutations on enzyme activity, normal and mutated GNE/MNK enzymatic domains were synthesized in a cell-free in vitro transcription-translation system and subjected to the GNE and MNK enzymatic assays. This cell-free system was validated for both GNE and MNK activities, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W; in MNK, A631V, M712T) affected not only that domain's enzyme activity, but also the activity of the other domain. Moreover, studies of the residual enzyme activity associated with specific mutations revealed a discrepancy between the fibroblasts and the cell-free systems. Fibroblasts exhibited higher residual activities of both GNE and MNK than the cell-free system. These findings add complexity to the tightly regulated system of sialic acid biosynthesis. This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes.

  19. WARTHIN TUMOR LIKE PAPILLARY CARCINOMA OF THYROID: A RARE OCCURENCE

    Directory of Open Access Journals (Sweden)

    Shikha

    2015-12-01

    Full Text Available INTRODUCTION Among the thyroid cancers, papillary carcinoma is the most common type. Warthin tumor like papillary carcinoma of thyroid is a rare variant of papillary carcinoma. The distinguishing feature of this rare variant is papillary formations lined by tumor cells with oncocytic cytoplasm with nuclear features of papillary carcinoma and lymphoplasmacytic infiltrate in the papillary stalks with striking histological resemblance to Warthin’s tumor of salivary glands. A 46 years old female with complaints of painless swelling of the neck for four years and gradually increasing in size, measuring 3x2.5 cm on the right lobe of the thyroid gland. The swelling moved with deglutition, non-tender and firm to hard in consistency. Thyroid function was within normal limits. FNAC suggested a diagnosis of oxyphilic variant of papillary carcinoma of thyroid. It showed syncytial aggregates, sheets of cells and few papillary structures with focal nuclear crowding. The patient underwent bilateral total thyroidectomy and neck dissection. Microscopic examination showed predominantly follicles and small papillary structures lined by cells having eosinophilic cytoplasm and clear nucleus. There was lymphoid stroma in the core of papillae and interfolllicular areas. Hyalinized collagen, dystrophic calcification and follicles without colloid matter infiltrating the hyalinised area were seen. No lymphovascualr tumour embolization were noted. This tumor is found more commonly in women with Hashimoto’s thyroiditis. The prognosis is favourable as conventional papillary carcinoma. About 8% of Warthin’s tumor are detected in extraparotid locations.

  20. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  1. Sequential treatments in hereditary leiomyomatosis and renal cell carcinoma (HLRCC): Case report and review of the literature

    Science.gov (United States)

    de Velasco, Guillermo; Munoz, Cesar; Sepulveda, Juan M.; Castellano, Daniel

    2015-01-01

    The overall survival for patients with advanced papillary renal carcinoma (RCC) is still limited. Although multikinase inhibitors have recently been developed for clear cell carcinoma, response rates in other histology non-clear cell RCC are poor and patients often face dose-limiting toxicities which lead to a reduction in prognosis and treatment success. We present a patient with hereditary leiomyomatosis and RCC (HLRCC), showing a sustained response for more than 12 months to gemcitabine-bevacizumab therapy after failure tyrosine kinase inhibitors (TKIs) and mammalian target of rapamycin (mTOR) therapies. PMID:26085897

  2. Does Papillary Carcinoma of Thyroglossal Duct Cyst Develop De Novo?

    Directory of Open Access Journals (Sweden)

    Tekin Baglam

    2015-01-01

    Full Text Available Backround. Thyroglossal duct cyst (TDC is a developmental abnormality of the thyroid gland. Due to embryological remnants of thyroid tissue located in the TDC, the same malignant tumors that develop in the thyroid gland can also develop in the TDC. Methods. We present the unique case of a 39-year-old female with simultaneous de novo papillary carcinoma in a TDC and the thyroid gland. Results. With the suspicion of simultaneous papillary carcinoma in the TDC and the thyroid gland, Sistrunk procedure with total thyroidectomy and central neck exploration was performed. Conclusion. The clinician should have a high index of suspicion upon encountering papillary carcinoma of the TDC to differentiate de novo papillary carcinoma in the TDC from those originating from the thyroid gland, because papillary carcinoma in TDC may originate from an occult thyroid papillary carcinoma.

  3. Does Papillary Carcinoma of Thyroglossal Duct Cyst Develop De Novo?

    Science.gov (United States)

    Baglam, Tekin; Binnetoglu, Adem; Yumusakhuylu, Ali Cemal; Demir, Berat; Askan, Gokce; Sari, Murat

    2015-01-01

    Backround. Thyroglossal duct cyst (TDC) is a developmental abnormality of the thyroid gland. Due to embryological remnants of thyroid tissue located in the TDC, the same malignant tumors that develop in the thyroid gland can also develop in the TDC. Methods. We present the unique case of a 39-year-old female with simultaneous de novo papillary carcinoma in a TDC and the thyroid gland. Results. With the suspicion of simultaneous papillary carcinoma in the TDC and the thyroid gland, Sistrunk procedure with total thyroidectomy and central neck exploration was performed. Conclusion. The clinician should have a high index of suspicion upon encountering papillary carcinoma of the TDC to differentiate de novo papillary carcinoma in the TDC from those originating from the thyroid gland, because papillary carcinoma in TDC may originate from an occult thyroid papillary carcinoma.

  4. Intraductal Oncocytic Papillary Neoplasms of the Pancreas.

    Science.gov (United States)

    Kallen, Michael E; Naini, Bita V

    2016-09-01

    Intraductal oncocytic papillary neoplasms (IOPNs) are cystic neoplasms with intraductal growth and complex papillae composed of oncocytic cells. IOPNs have been reported both in the pancreas and biliary tree, and are most likely closely related in these 2 locations. In the pancreas, these rare tumors are now considered 1 of the 4 histologic subtypes of intraductal papillary mucinous neoplasm (IPMN). Significant differences in histology, immunophenotype, and molecular genetics have been reported between IOPNs and other IPMN subtypes. However, there are limited data regarding the clinical behavior and prognosis of IOPNs in comparison to other subtypes of IPMN. We review features of pancreatic IOPNs and discuss the differential diagnosis of other intraductal lesions in the pancreas.

  5. Symptomatic papillary tumour of the pulmonary valve

    OpenAIRE

    Cooper, Linda Carol

    1982-01-01

    Papillary ‘tumours’ are small pedunculated lesions of the valve cusps and result from wear-and-tear. They are therefore frequent post-mortem findings in older patients. The vast majority are clinically silent, though occasionally such lesions when on the aortic valve may produce symptoms of myocardial or cerebral ischaemia. None has been known to cause symptoms when in the right side of the heart.

  6. Determinants of papillary cancer of the thyroid

    Energy Technology Data Exchange (ETDEWEB)

    Wingren, G.; Hatschek, T.; Axelson, O. (University Hospital, Linkoeping (Sweden))

    1993-10-01

    Determinants of papillary thyroid cancer were evaluated in a questionnaire-based case-control study from southeastern Sweden. A total of 104 cases, diagnosed from 1977 to 1987, and 387 randomly selected controls were included in the analyses. Female subjects with papillary cancer reported a work history as dentists/dental assistants, telephone operators, teachers, and day nursery personnel, and an occupational contact with chemicals and video display terminals more often than did controls. The 11 male cases more often reported working as mechanics and metal workers and having occupational contact with solvents. Other factors associated with increased risk for female papillary cancer were having private well water at the birth address; leisure time exposure to combustion smoke; low intake of cruciferous vegetables and seafood; and a family history of goiter, heart disease, biliary disorder, or female genital cancer. Diagnostic radiographic examinations, especially to the head, neck, or upper back/chest area, or repeated dental examinations, were also found to be associated with this form of cancer. With regard to the possible influence from hormonal factors among women less than age 50 years at time of diagnosis, an increased risk was found for a pregnancy soon after puberty. Tendencies toward a decreasing risk with increasing age at first pregnancy as well as an increasing risk with increasing number of pregnancies were found as well. Multiparity seemed to potentiate the effect from prior radiographic examinations.

  7. New treatments of hereditary blindness

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

    2013-01-01

    Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

  8. The Spectrum of Oral Lesions Presenting Clinically With Papillary-Verrucous Features.

    Science.gov (United States)

    Whitefield, Sara; Raiser, Vadim; Shuster, Amir; Kleinman, Shlomi; Shlomi, Benjamin; Kaplan, Ilana

    2017-08-24

    We sought to study the spectrum of oral pathologies presenting clinically with papillary-verrucous features. A 10-year (2007 to 2016) retrospective study of oral papillary lesions was undertaken. All biopsy reports that included a clinical description of papillary or verrucous architecture were retrieved. The data collected included clinical features, size, color, location, histopathologic diagnosis, age, and gender. The study included 137 patients, with a total of 150 lesions. The ages ranged from 10 weeks to 84 years (mean, 49 years). Histopathologically, 60% of cases were human papillomavirus (HPV) related, 19% showed hyperplasia, 11% had hyperplastic candidiasis, 7% were dysplastic or malignant, and 3% were benign of unknown etiology. Among the 7% of lesions diagnosed with dysplasia or malignancy, only 60% were suspected to have malignancy at the time of biopsy. HPV-related lesions and hyperplasia were most frequently found on the tongue (38% and 41%, respectively) and soft palate (21% and 14%, respectively). Hyperplastic candidiasis was most frequently found on the buccal mucosa and tongue (35% and 24%, respectively). Squamous cell carcinoma was found in 1.3% of total lesions and verrucous carcinoma in 1.3%. Of the verrucous or papillary malignant lesions, 50% were found on the gingiva. Most malignant lesions occurred in the 40- to 60-year age group. The results of this study suggest that, because of the wide spectrum of entities presenting clinically with a papillary-verrucous architecture, biopsy is necessary for diagnosis. The clinical presentation allowed for overall accurate diagnosis in only 47% of cases and 60% accuracy in dysplastic or malignant cases. It is of considerable importance to correctly identify those lesions that are HPV related but at the same time to rule out those lesions that are unrelated to HPV to help alleviate a patient's anxiety. Most important, biopsy is mandatory for the recognition of malignant lesions with a papillary

  9. An overview of hereditary pancreatitis.

    Science.gov (United States)

    Rebours, Vinciane; Lévy, Philippe; Ruszniewski, Philippe

    2012-01-01

    Hereditary pancreatitis is a rare cause of chronic pancreatitis. The prevalence was evaluated to 0.3/100000 in Western Countries. Genetic disorders are due to mutations of the PRSS1 gene on the long arm of the chromosome 7, encoding for the cationic trypsinogen. The inheritance pattern is autosomal dominant with an incomplete penetrance (80%). Since 1996, more than 30 mutations were found. The three more common mutations are R122H, N29I and A16V. First symptoms begin since childhood, mainly before 10 years old. Main symptoms are pancreatic pain and acute pancreatitis (>70%). CP morphological changes as pancreatic calcifications are diagnosed at a median age of 22-25 years. Exocrine and endocrine pancreatic insufficiency occurred in 34% and 26% at a median age of 29 and 38 years. No clinical differences exist according to the mutation type. No excess of mortality in hereditary pancreatitis population compared to general population was found, despite a real risk of cancer. The cumulative risks of pancreatic cancer at 50, 60 and, 75 years are 10%, 18.7% and, 53.5%, respectively. The relative risk of cancer increases in smokers and is evaluated to 8.55. Hereditary pancreatitis diagnosis permits to propose an adapted management in expert centres.

  10. An endoscopic and anatomical approach to the septal papillary muscle of the conus.

    Science.gov (United States)

    Loukas, Marios; Tubbs, R Shane; Louis, Robert G; Apaydin, Nihal; Bartczak, Artur; Vefali, Huseng; Huseng, Vefali; Alsaiegh, Nada; Fudalej, Martin

    2009-11-01

    Many authors have questioned the gross anatomy of the septal papillary muscle of the conus known as the papillary muscle complex (PMC) during the past century. An anatomical investigation was conducted to identify the morphology and the topography of the PMC. Our study involved 200 formalin fixed adult human hearts. The PMC was present in 82% of the hearts, while in the remaining 18% of specimens, it was replaced by tendinous chords. The PMC was connected with the septal (59.7%), anterior (20.7%), or both septal and anterior leaflets (19.5%) with single (29.8%) or multiple chordae tendinae (70.1%). The PMC was also found to be present as a single papilla (51.8%), double papilla (32.9%) or triple papilla (15.2%). In addition to the PMC, we observed accessory single septal papillary muscles 42 specimens, double septal papillary muscles 32 specimens and triple septal papillary muscles 26 specimens. In the right ventricular inflow tract, the location of the PMC was consistently found to be in a position below the junction of the anterior and septal leaflets of the tricuspid valve. In the right ventricular outflow tract, we were able to identify 73 specimens in which the PMC was located at the junction formed superiorly by the inferior border of the subpulmonary infundibulum and inferiorly by the superior-lateral border of the septal band, extending into the region of the subpulmonary infundibulum. In the remaining 27%, the PMC was located primarily at the area occupied by the superiolateral border of the septal band without extending to the subpulmonary infundibulum. The present study describes the topography of the PMC according to its surrounding anatomical structures such as the tricuspid valve, subpulmonary infundibulum and septal band of the right ventricle. This anatomical data could have important clinical significance for cardiac surgeons operating in this area.

  11. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    OpenAIRE

    Ozgur Kartal; Sevket Arslan; Mustafa Gulec; Ahmet Zafer Caliskaner; Abdullah Baysan; Nail Ersoz; Ugur Musabak; Osman Sener

    2016-01-01

    Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;ab...

  12. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... Merck Manual Home Edition for Patients and Caregivers: Thrombophilia National Blood Clot Alliance: Antithrombin Deficiency Orphanet: Hereditary thrombophilia due to congenital antithrombin deficiency Patient Support and ...

  13. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does...... however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...... of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting....

  14. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Hereditary Fructose Intolerance Health Topic: Carbohydrate Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  15. Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: /sup 125/I-iododeoxycytidine incorporation as an assay for viral growth. [Human fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Campisi, J.; Hafner, J.; Boorstein, R.; Pardee, A.B.

    1983-01-01

    /sup 125/I-Iododeoxycytidine (/sup 125/IdC) incorporation into acid-insoluble material was a sensitive, rapid, and quantitative assay for the growth of herpes simplex virus type 1 (HSV-1) in human fibroblasts. Cellular utilization of the isotope was 10 to 25% of the incorporation by infected cells and could be 80% inhibited by tetrahydrouridine (THU). Viral utilization was inhibited by acycloguanosine, thioguanine (TG), and cytosine arabinoside. Isotope was incorporated equally well by growing or quiescent infected cells. HSV-1 was used to probe the metabolic capabilities of three mutant human fibroblast strains. /sup 125/IdC incorporation quantitatively measured the ability of the virus to grow in these cells. Viral /sup 125/IdC incorporation was sensitive to TG in normal fibroblasts but showed a 8- to 10-fold greater resistance to TG in fibroblasts derived from patients with Lesch-Nyhan syndrome (LN). Similarly, the growth of ultraviolet irradiated HSV-1 in normal fibroblasts was 5-fold greater than in fibroblasts derived from patients with xeroderma pigmentosum. In fibroblasts derived from patients with hereditary orotic aciduria, viral /sup 125/IdC incorporation was sensitive to adenosine (AD) at concentrations which were slightly stimulatory in normal fibroblasts. This was a 2-fold difference in AD sensitivity, which the radioassay reliably and quantitatively documented. HSV-1 infected cells could be individually identified by their incorporated /sup 125/IdC; such cells had blackened nuclei in autoradiograms prepared 12 hr after infection. Normal cells infected in the presence of TG had many fewer labeled nuclei than LN cells similarly infected in the presence of the drug. (JMT)

  16. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Giordano, Carla; Montopoli, Monica; Perli, Elena; Orlandi, Maurizia; Fantin, Marianna; Ross-Cisneros, Fred N; Caparrotta, Laura; Martinuzzi, Andrea; Ragazzi, Eugenio; Ghelli, Anna; Sadun, Alfredo A; d'Amati, Giulia; Carelli, Valerio

    2011-01-01

    Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion cells, leading to optic atrophy and loss of central vision prevalently in young males. The current study investigated the reasons for the higher prevalence of Leber's hereditary optic neuropathy in males, exploring the potential compensatory effects of oestrogens on mutant cell metabolism. Control and Leber's hereditary optic neuropathy osteosarcoma-derived cybrids (11778/ND4, 3460/ND1 and 14484/ND6) were grown in glucose or glucose-free, galactose-supplemented medium. After having shown the nuclear and mitochondrial localization of oestrogen receptors in cybrids, experiments were carried out by adding 100 nM of 17β-oestradiol. In a set of experiments, cells were pre-incubated with the oestrogen receptor antagonist ICI 182780. Leber's hereditary optic neuropathy cybrids in galactose medium presented overproduction of reactive oxygen species, which led to decrease in mitochondrial membrane potential, increased apoptotic rate, loss of cell viability and hyper-fragmented mitochondrial morphology compared with control cybrids. Treatment with 17β-oestradiol significantly rescued these pathological features and led to the activation of the antioxidant enzyme superoxide dismutase 2. In addition, 17β-oestradiol induced a general activation of mitochondrial biogenesis and a small although significant improvement in energetic competence. All these effects were oestrogen receptor mediated. Finally, we showed that the oestrogen receptor β localizes to the mitochondrial network of human retinal ganglion cells. Our results strongly support a metabolic basis for the unexplained male prevalence in Leber's hereditary optic neuropathy and hold promises for a therapeutic use for oestrogen-like molecules.

  17. Three-dimensional echocardiography of a tricuspid valve papillary fibroelastoma

    Directory of Open Access Journals (Sweden)

    Atooshe Rohani

    2017-01-01

    Full Text Available Papillary fibroelastomas (PFE on tricuspid valve (TV are rare, accounting for fewer than 11% of all PFE. Most often they are asymptomatic, and detect on mitral valve. We report a case of a typical chest pain found to be due to papillary fibroelastoma of the tricuspid valve.

  18. Prognostic factors in papillary and follicular thyroid carcinomas

    DEFF Research Database (Denmark)

    Godballe, C; Asschenfeldt, P; Jørgensen, K E;

    1998-01-01

    carcinomas. The analyses were based on cause-specific and crude survival. In univariate analysis, age at diagnosis, tumor size, presence of distant metastases, histology (papillary contra follicular type), extrathyroidal invasion, necrosis in primary tumor, and p53 expression were significant prognostic...... prognostic indicator, which might be of value in the treatment planning in patients with papillary or follicular thyroid carcinomas....

  19. [Hereditary peroxisomal diseases].

    Science.gov (United States)

    Astudillo, Leonardo; Sabourdy, Frédérique; Touati, Guy; Levade, Thierry

    2016-03-01

    Peroxisomes are small intracellular organelles that catalyse key metabolic reactions such as the beta-oxidation of some straight-chain or branched-chain fatty acids and the alpha-oxidation of phytanic acid. These enzyme reactions produce hydrogen peroxide, which is subsequently neutralized by the peroxisomal catalase. Peroxisomes also metabolize glyoxylate to glycine, and catalyze the first steps of plasmalogen biosynthesis. There are more than a dozen inherited peroxisomal disorders in humans. These metabolic diseases are due to monogenic defects that affect either a single function (such as enzyme or a transporter) or more than two distinct functions because of the impairment of several aspects of peroxisome biogenesis. With the notable exception of X-linked adrenoleucodystrophy, these inborn disorders are transmitted as autosomal recessive traits. Their clinical presentation can be very heterogeneous, and include neonatal, infantile or adult forms. The present review describes the symptomatology of these genetic diseases, the underlying genetic and biochemical alterations, and summarizes their diagnostic approach. Copyright © 2016. Published by Elsevier Masson SAS.

  20. Papillary Cystadenocarcinoma of the Parotid Gland: A Rare Case Report.

    Science.gov (United States)

    Telugu, Ramesh Babu; Job, Anjana Juanita; Manipadam, Marie Therese

    2016-06-01

    Papillary cystadenocarcinoma is a rare malignant neoplasm of the salivary gland, characterized by noticeable cystic and solid areas with papillary endophytic projections. These tumours lack features that characterize cystic variants of several more common salivary gland carcinomas. It was first described in 1991 by World Health Organization as a separate entity and cystadenocarcinoma with or without papillary component in the AFIP classification. Most of these tumours occurred in the major salivary glands followed by minor salivary glands. Cystadenocarcinoma is the malignant counterpart of cystadenoma. We report a case of papillary cystadenocarcinoma of parotid. A 40-year-old lady presented with gradually progressive swelling below the right ear associated with occasional pain. Clinical and radiological features suggested benign neoplasm. Right lobe superficial parotidectomy was performed. The histopathologic diagnosis showed papillary cystadenocarinoma of the parotid gland. Histologic confirmation of stromal invasion is required to differentiate it from the benign lesion. Conservative wide local surgical excision is the treatment of choice.

  1. [Solid and papillary tumor of the pancreas].

    Science.gov (United States)

    Spay, G; Mosnier, J F; Mangnas, D

    A patient who was treated in 1978 by duodenopancreatectomy for a tumour of the second duodenum survived for 15 years before death caused by trauma. The pathology slides were therefore reassessed and led, a posteriori, to the diagnosis of solid papillary tumour of the pancreas according to the new criteria described by Kloppel. The 86 references found in the literature reported 139 cases although many were too vague to be retained. Precise diagnosis can only be obtained on the basis of immunohistochemistry and ultra-structure criteria as described here.

  2. Ultrasonographic imaging of papillary thyroid carcinoma variants

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Jung Hee [Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

  3. MITRAL VALVE PAPILLARY FIBROELASTOMA:CASE REPORT

    Institute of Scientific and Technical Information of China (English)

    HUANG Ying(黄英); JIANG Mier(蒋米尔); Yves GLOCK

    2003-01-01

    Objective To evaluate the transesophageal echocardiography(TEE) and surgical treatment to cardiac papillary fibroelastomas (CPFE). Methods CPFE is a rare benign tumor occuring mainly in valves and often revealed by serious cerebral, coronary and peripheral embolism or even sudden death. We report a case of mitral PFE diagnosed by transesophageal echocardiography (TEE), and surgical resection was performed. Results Surgical intervention is successful, and the follow-up courses are uneventful. Conclusion TEE is helpful to diagnosis and guiding the operation. Operation is recommended to prevent recurrent embolization complications.

  4. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....

  5. Two cases of hereditary fructose intolerance.

    Science.gov (United States)

    Ananth, N; Praveenkumar, G S; Rao, K Aravind; Vasanthi; Kakkilaya, Srinivas

    2003-07-01

    Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.

  6. Papillary thyroid carcinoma: Debate at rest

    Directory of Open Access Journals (Sweden)

    A A Sonkar

    2010-01-01

    Full Text Available Introduction: Papillary thyroid cancer (PTC is the most common well-differentiated cancer of the thyroid and is one of the fastest growing group of cancers probably because of the increased use of ultrasound (HRUSG in the evaluation of the thyroid in recent years. Materials and Methods: A MEDLINE and OVID database search was performed to collect information on papillary thyroid carcinoma. Recently published consensus guidelines were also used as an additional resource. Conclusions: The controversy regarding the extent of thyroidectomy in patients of PTC is relatively settled, with total thyoidectomy being the preferred approach with nodules> 1.5 cm in size. Lymph node (LN metastases do not seem to affect the overall survival, but they do increase the recurrence rate. It is worthwhile to offer LN dissection at initial surgery if LNs are ultrasonologically diagnosed to harbor malignancy. In experts hands, the rate of recurrent laryngeal nerve injury and hypoparathyroidism is negligible in a neck dissection in initial surgery and remains negligible if carried out in a redo or completion scenario.

  7. Enhance the diagnosis of hereditary renal diseases in pediatric field in China%加强我国儿科领域中对遗传性肾脏病的诊断

    Institute of Scientific and Technical Information of China (English)

    丁洁

    2006-01-01

    @@ More and more hereditary diseases, including hereditary renal diseases in particular, have been diagnosed with the achievement of the Human Genome Project in the last decade and the development of biotechnology. The increased diagnosis of hereditary diseases as well as hereditary renal diseases appeared not only in case numbers but also in disease categories. Some hereditary renal diseases that are considered to be rare previously now become relatively common, because there have been much more approaches for diagnosis, such as renal pathology, biochemistry, imaging, and genetic diagnoses.

  8. Down-regulation of miR-181b promotes apoptosis by targeting CYLD in thyroid papillary cancer.

    Science.gov (United States)

    Li, Dengfeng; Jian, Wei; Wei, Chuankui; Song, Hongming; Gu, Yifan; Luo, Yi; Fang, Lin

    2014-01-01

    MicroRNAs (miRNAs) are a small class of non-coding RNAs that are widely deregulated in various cancers. They act as either oncogenes or tumor suppressor genes in human cancer. The purpose of this study was to examine the potential role of miR-181b in human thyroid papillary cancer. The expression levels of different miRNAs were measured by micro array analysis in 10 thyroid papillary cancer specimens and adjacent normal thyroid cancer tissues. MTT assays, colony formation assays, apoptosis assays were used to explore the potential function of miR-181b inhibitor in TPC1 human thyroid papillary cancer cells. Luciferase reporter assays were performed to validate the regulation of a putative target of miR-181b, in corroboration with qPCR and western blot assays. We found that the expression of miR-181b was higher in thyroid papillary cancer specimens compared with adjacent normal tissues (P miR-181b inhibited cellular growth and promoted cellular apoptosis. Luciferase assays indicated that miR-181b can bind with its putative target site in the 3'-untranslated region (3'-UTR) of CYLD, suggesting that CYLD is a direct target of miR-181b. Western blot analysis indicated that downregulation of miR-181b results in the upregulation of CYLD at protein levels. Taken together, downregulation of miR-181b expression causes cellular growth inhibition, promoting cellular apoptosis by targeting CYLD. These findings suggest that downregulation of the expression of miR-181b may be a therapeutic target for the treatment of human thyroid papillary cancer.

  9. Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, S.E.; Van Bakel, I.; Craig, I.W. [Univ. of Oxford (United Kingdom)] [and others

    1995-10-10

    Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3{prime} part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus. 31 refs., 5 figs.

  10. Low VHL mRNA expression is associated with more aggressive tumor features of papillary thyroid carcinoma.

    Directory of Open Access Journals (Sweden)

    Boban Stanojevic

    Full Text Available Alterations of the von Hippel-Lindau (VHL tumor suppressor gene can cause different hereditary tumors associated with VHL syndrome, but the potential role of the VHL gene in papillary thyroid carcinoma (PTC has not been characterized. This study set out to investigate the relationship of VHL expression level with clinicopathological features of PTC in an ethnically and geographically homogenous group of 264 patients from Serbia, for the first time. Multivariate logistic regression analysis showed a strong correlation between low level of VHL expression and advanced clinical stage (OR = 5.78, 95% CI 3.17-10.53, P<0.0001, classical papillary morphology of the tumor (OR = 2.92, 95% CI 1.33-6.44, P = 0.008 and multifocality (OR = 1.96, 95% CI 1.06-3.62, P = 0.031. In disease-free survival analysis, low VHL expression had marginal significance (P = 0.0502 by the log-rank test but did not appear to be an independent predictor of the risk for chance of faster recurrence in a proportion hazards model. No somatic mutations or evidence of VHL downregulation via promoter hypermethylation in PTC were found. The results indicate that the decrease of VHL expression associates with tumor progression but the mechanism of downregulation remains to be elucidated.

  11. Lack of Benefit of Early Intervention with Dietary Flax and Fish Oil and Soy Protein in Orthologous Rodent Models of Human Hereditary Polycystic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Tamio Yamaguchi

    Full Text Available Rationale for dietary advice in polycystic kidney disease (PKD is based in part on animal studies that have examined non-orthologous models with progressive development of cystic disease. Since no model completely mimics human PKD, the purpose of the current studies was to examine the effects of dietary soy protein (compared to casein or oils enriched in omega-3 fatty acids (fish or flax oil compared to soy oil on early disease progression in two orthologous models of PKD. The models studied were Pkd2WS25/- mice as a model of autosomal dominant PKD, and PCK rats as a model of autosomal recessive PKD. After 13 weeks of feeding, dietary fish (but not flax oil resulted in larger kidneys and greater kidney water content in female Pkd2WS25/- compared to control mice. After 12 weeks of feeding male PCK compared to control rats, both fish and flax compared to soy oil resulted in enlarged kidneys and livers, greater kidney water content and higher kidney cyst area in diseased rats. Dietary soy protein compared to casein had no effects in Pkd2WS25/- compared to control mice. In PCK rats, kidney and liver histology were not improved, but lower proteinuria and higher urine pH suggest that soy protein could be beneficial in the long term. Therefore, in contrast to studies in non-orthologous models during the progressive development phase, these studies in orthologous PKD models do not support dietary advice to increase soy protein or oils enriched in omega-3 oils in early PKD.

  12. Cribriform-Morular Variant of Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Bahar AKKAYA

    2009-09-01

    Full Text Available Cribriform-morular variant of papillary thyroid carcinoma is a rare histological subtype of papillary thyroid carcinoma. This subtype is commonly reported in patients with familial adenomatous polyposis. However, cases not associated with polyposis have also been reported. The differential diagnosis of this entity from other aggressive thyroid neoplasms is important. A 29-year old man presented with a solitary mass in the left thyroid lobe underwent total thyroidectomy. Pathologic examination of the specimen revealed cribriform-morular variant of papillary thyroid carcinoma. After diagnosis, colonoscopy revealed a normal colon without polyposis. Herein, we report a case not associated with polyposis and discuss with the literature.

  13. Diffuse sclerosing variant of papillary thyroid carcinoma: case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Chan; Kim, Dong Wook [Masan Samsung Hospital, Sungkyunkwan University, School of Medicine, Masan (Korea, Republic of)

    2006-07-15

    Diffuse sclerosing papillary carcinoma (DSPC) is a variant of papillary thyroid carcinoma (PTC), but it shows more aggressive clinical course and a poorer prognosis than the other types of PTC. Most PTCs show a focal nodular pattern in the thyroid on the imaging modalities, but DSPC reveals a diffuse infiltrating configuration in the thyroid without any focal nodular lesion. To our knowledge, there are scant radiological reports of diffuse sclerosing variant of papillary thyroid carcinoma. In this report, we present the case of a patient with DSPC who showed the characteristic findings on sonography and computed tomography.

  14. [Viscoelastic properties of relaxed papillary muscle at physiological hypertrophy].

    Science.gov (United States)

    Smoliuk, L T; Lisin, R V; Kuznetsov, D A; Protsenko, Iu L

    2012-01-01

    Viscoelastic properties of relaxed rat papillary muscles at physiological hypertrophy (intensive swimming for 5 weeks) have been obtained. It has been ascertained that viscoelastic properties of hypertrophied muscles are not significantly distinguished from those of control papillary muscles. A three-dimensional model of myocardial fascicle has been verified in compliance with experimental data of biomechanical tests of hypertrophied muscles. Elastic and viscous parameters of structural elements of the model negligibly differ from the parameters of the model of a control muscle. It is shown that physiological hypertrophy has a slight influence on viscoelastic properties of papillary muscles.

  15. Malar Bone Metastasis Revealing a Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Ihsen Slim

    2012-01-01

    Full Text Available Papillary thyroid carcinoma is the most common form of differentiated thyroid carcinoma. It is generally confined to the neck with or without spread to regional lymph nodes. Metastatic thyroid carcinomas are uncommon and mainly include lung and bone. Metastases involving oral and maxillofacial region are extremely rare. We described a case of malar metastasis revealing a follicular variant of papillary thyroid carcinoma, presenting with pain and swelling of the left cheek in a 67-years-old female patient with an unspecified histological left lobo-isthmectomy medical history. To our knowledge, this is the first recorded instance of a malar metastasis from a follicular variant of papillary thyroid carcinoma.

  16. Papillary Carcinoma Arising from the Pyramidal Lobe of the Thyroid

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Gi; Lee, Sarah; Kim, Eun Kyung; Moon, Hee Jung; Kwak, Jin Young [Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2012-03-15

    The authors present a rare case of papillary carcinoma arising from the pyramidal lobe of the thyroid in a 54-year-old woman, who presented with a right submental palpable mass. An ultrasound evaluation depicted a 3 cm mixed echoic mass from the thyroid cartilage level without a focal lesion in the thyroid gland. Surgical specimens obtained during bilateral thyroidectomy confirmed papillary carcinoma of the pyramidal lobe. To the authors' knowledge, this is the first case report to describe papillary carcinoma arising from the pyramidal lobe of the thyroid gland

  17. Intracystic papillary breast cancer: a clinical update

    Science.gov (United States)

    Reefy, Sara Al; Kameshki, Rashid; Sada, Dhabya Al; Elewah, Abdullah Al; Awadhi, Arwa Al; Awadhi, Kamil Al

    2013-01-01

    Introduction: Intracystic (encysted) papillary cancer (IPC) is a rare entity of breast cancer accounting for approximately (1–2%) of all breast tumours [1], usually presenting in postmenopausal women and having an elusive natural history. The prediction of the biological behaviour of this rare form of breast cancer and the clinical outcome showed its overall favourable prognosis; however, its consideration as a form of ductal carcinoma in situ with non-invasive nature is to be reconsidered as it has been shown to present histologically with invasion of basement membrane and even metastasis [2]. The objective of this review is to shed some light on this rare, diagnostically challenging form of breast cancer, including its radiological, histological, and molecular characteristics and its pathological classification. The final goal is to optimize the clinical management including the role of sentinel lymph node biopsy (SLNB), general management with adjuvant radiotherapy (RT), mammary ductoscopy, and hormonal treatment. Methods: A literature review, facilitated by Medline, PubMed, and the Cochrane database, was carried out using the terms ‘Intracystic (encysted) papillary breast cancer’. Results: Intracystic papillary breast cancer (IPC) is best managed in the context of a multidisciplinary team. Surgical excision of the lump with margins in excess of 2 mm is considered satisfactory. Sentinel lymph node biopsy (SLNB) is recommended as data have shown the possibility of the presence of invasive cancer in the final histology. RT following IPC alone is of uncertain significance as this form of cancer is usually low grade and rarely recurs. However, if it is associated with DCIS or invasive cancer and found in young women, radiotherapy may be prudent to reduce local recurrence. Large tumours, centrally located or in cases where breast conserving surgery is unable to achieve a favourable aesthetic result, a skin sparing mastectomy with the opportunity for immediate

  18. Hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2013-01-01

    Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.

  19. The distal hereditary motor neuropathies.

    Science.gov (United States)

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.

  20. Basaloid squamous cell carcinoma of the penis with papillary features: a clinicopathologic study of 12 cases.

    Science.gov (United States)

    Cubilla, Antonio L; Lloveras, Belén; Alemany, Laia; Alejo, María; Vidal, August; Kasamatsu, Elena; Clavero, Omar; Alvarado-Cabrero, Isabel; Lynch, Charles; Velasco-Alonso, Julio; Ferrera, Annabelle; Chaux, Alcides; Klaustermeier, Joellen; Quint, Wim; de Sanjosé, Silvia; Muñoz, Nubia; Bosch, Francisco Xavier

    2012-06-01

    There are 3 distinct variants of penile squamous cell carcinoma frequently associated with human papillomavirus (HPV): basaloid, warty-basaloid, and warty carcinomas. Considering the high incidence rates of penile cancer in some countries, a large international study was designed to evaluate the presence of HPV, its genotype distribution, and its association with histologic types of penile cancer. In this international review of >900 cases, we found a group of highly distinct papillary neoplasms composed of basophilic cells resembling urothelial tumors but frequently associated with HPV. Macroscopically, tumors were exophytic or exoendophytic. Microscopically, there was a papillomatous pattern of growth with a central fibrovascular core and small basophilic cells lining the papillae. Positivity for HPV was present in 11 of 12 tumors (92%). Single genotypes found were HPV-16 in 9 tumors and HPV-51 in 1 tumor. Multiple genotypes (HPV-16 and HPV-45) were present in another case. Overexpression of p16 was observed in all cases. Uroplakin-III was negative in all cases. The differential diagnosis was with basaloid, warty-basaloid, warty, and papillary squamous cell carcinoma and with urothelial carcinomas. Local excision (4 cases), circumcision (3 cases), or partial penectomy (5 cases) were preferred treatment choices. Tumor thickness ranged from 1 to 15 mm (average, 7 mm). Two patients with tumors invading 11 and 15 mm into the corpus spongiosum developed inguinal nodal metastasis. Of 11 patients followed up (median 48 mo), 7 were alive with no evidence of metastatic disease, 3 died from causes other than penile cancer, and another died postoperatively. This morphologically distinct tumor probably represents a papillary variant of basaloid carcinomas (papillary-basaloid carcinomas). Unlike typical basaloid carcinomas, the overall prognosis was excellent. However, deeply invasive tumors were associated with regional nodal metastasis indicating a potential for tumor

  1. Papillary endothelial hyperplasia (Masson's tumor) in children.

    Science.gov (United States)

    Liné, A; Sanchez, J; Jayyosi, L; Birembaut, P; Ohl, X; Poli-Mérol, M-L; François, C

    2016-06-23

    The intravascular papillary endothelial hyperplasia (IPEH/Masson's tumor) is a rare benign tumor of the skin and subcutaneous vessels. We report, in four pediatric cases, clinical presentation, care (diagnostic and surgical) of Masson's tumor in children. Two boys (two years) and two girls (four and six years) showed a pain subcutaneous tumor (one to five centimeters). They were in the transverse abdominal muscle, between two metatarsals, at the front of thigh and in the axilla. Imaging performed (MRI, Doppler ultrasound) evoked either a hematoma, a lymphangioma or hemangioma. The indication for removal was selected from pain and/or parental concern. The diagnosis was histologically. A lesion persisted in residual form (incomplete initial resection), and is currently not scalable for eleven years.

  2. Papillary Hemangiomas and Glomeruloid Hemangiomas Are Distinct Clinicopathological Entities

    NARCIS (Netherlands)

    Suurmeijer, Albert J. H.

    2010-01-01

    The author reviews and compares the clinicopathological features of papillary hemangiomas and glomeruloid hemangiomas, 2 rare, cutaneous intravascular capillary-type vascular lesions with overlapping morphological details. Immunostaining for collagen IV highlighted discriminating features in these l

  3. Papillary Hemangiomas and Glomeruloid Hemangiomas Are Distinct Clinicopathological Entities

    NARCIS (Netherlands)

    Suurmeijer, Albert J. H.

    2010-01-01

    The author reviews and compares the clinicopathological features of papillary hemangiomas and glomeruloid hemangiomas, 2 rare, cutaneous intravascular capillary-type vascular lesions with overlapping morphological details. Immunostaining for collagen IV highlighted discriminating features in these l

  4. Renal papillary necrosis and pyelonephritis accompanying fenoprofen therapy.

    Science.gov (United States)

    Husserl, F E; Lange, R K; Kantrow, C M

    1979-10-26

    Renal papillary necrosis occurred after fenoprofen calcium administration in a patient with systemic lupus erythematosus and urinary tract infection. Possible mechanisms of renal damage may be hypersensitivity, decreased blood flow, and decreased production of a prostaglandin E-like substance.

  5. Acute severe mitral regurgitation: consideration of papillary muscle architecture

    Directory of Open Access Journals (Sweden)

    Pascoe Edward

    2008-01-01

    Full Text Available Abstract We present a case of an individual who presented with acute severe mitral regurgitation in the setting of an inferior ST elevation myocardial infarction. Both transthoracic and transesophageal echocardiography demonstrated a posteriorly directed eccentric jet of severe mitral regurgitation with flail anterior mitral valve leaflet attached presumably to the anterior papillary muscle. Intraoperative findings demonstrated rupture of the postero-medial papillary muscle attached via chords to the anterior mitral valve leaflet. This case serves to remind us that both the anterior and posterior leaflets of the mitral valve are attached to both papillary muscle heads. The direction and eccentricity of the mitral regurgitant jet on echocardiography helps to locate the leaflet involved, but not necessarily the coexisting papillary muscle pathology.

  6. Papillary Microcarcinoma in Multinodular Goiter with Lymphocytic Thyroiditis

    Directory of Open Access Journals (Sweden)

    Javalgi A.P

    2015-04-01

    Full Text Available Multi nodular goitre (MNG is one of the common presentations of various thyroid diseases. Hitherto issue is whether MNG is significantly associated with malignancy. Various studies have reported a 7 to 17% incidence of malignancy in MNG; most common documented is papillary carcinoma. Here we present a case of 40 year old woman with complains of neck swelling, since 10 months. No history of hypertension and other endocrine disorders. The laboratory investigation shows subclinical hyperthyroidism. Ultrasonography (USG of anterior neck showed a hypoechoic nodule at right lobe. Cytological diagnosis of colloid goitre was made and hemithyroidectomy was performed and specimen sent for histopathology. The case on histopathology was diagnosed as papillary microcarcinoma in multinodular goiter with lymphocytic thyroiditis which was further confirmed by immunohistochemistry. Recent studies have suggested that the micro-carcinomas classically progress to a clinically evident disease if left untreated. The treatment of papillary microcarcinoma should be similar to papillary thyroid cancer.

  7. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  8. Hereditary angioedema: imaging manifestations and clinical management.

    Science.gov (United States)

    Gakhal, Mandip S; Marcotte, Gregory V

    2015-02-01

    Hereditary angioedema is a genetic disorder typically related to insufficient or dysfunctional C1-esterase inhibitor. Patients present with episodic swelling of various body parts, such as the face, neck, bowel, genitals, and extremities. Acute or severe symptoms can lead to patients presenting to the emergency room, particularly when the neck and abdominopelvic regions are affected, which is often accompanied by radiologic imaging evaluation. Patients with hereditary angioedema can pose a diagnostic challenge for emergency department physicians and radiologists at initial presentation, and the correct diagnosis may be missed or delayed, due to lack of clinical awareness of the disease or lack of its consideration in the radiologic differential diagnosis. Timely diagnosis of hereditary angioedema and rapid initiation of appropriate therapy can avoid potentially life-threatening complications. This article focuses on the spectrum of common and characteristic acute imaging manifestations of hereditary angioedema and provides an update on important recent developments in its clinical management and treatment.

  9. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    Directory of Open Access Journals (Sweden)

    Michelle Fog Andersen

    2015-01-01

    Full Text Available Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

  10. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  11. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Susumu Takamatsu

    2016-01-01

    Full Text Available A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases. Based on these findings, the patient was definitely diagnosed with hereditary hemorrhagic telangiectasia according to Curaçao criteria. He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia. Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities.

  12. Genetics Home Reference: hereditary cerebral amyloid angiopathy

    Science.gov (United States)

    ... Neubert TA, Lu Y, Rebeck GW, Frangione B, Greenberg SM, Ghiso J. Iowa variant of familial Alzheimer's ... ML, van Duinen SG, Roos RA, Frosch MP, Greenberg SM. The cerebral beta-amyloid angiopathies: hereditary and ...

  13. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  14. Intravascular papillary endothelial hyperplasia: An unusual histopathological entity.

    Science.gov (United States)

    Mahapatra, Qury S; Sahai, Kavita; Malik, Ajay; Mani, N S

    2015-01-01

    Intravascular papillary endothelial hyperplasia (Masson's tumor) is a benign lesion of the skin and subcutaneous tissue consisting of a reactive proliferation of endothelial cells with papillary formations related to a thrombus. It poses a diagnostic challenge as the clinical signs and symptoms are nonspecific and may mimic a soft tissue sarcoma. The diagnosis is based on histopathology. Here we report two cases of Masson's hemangioma occurring on the upper lip and on the left hand.

  15. Intravascular papillary endothelial hyperplasia: An unusual histopathological entity

    Directory of Open Access Journals (Sweden)

    Qury S Mahapatra

    2015-01-01

    Full Text Available Intravascular papillary endothelial hyperplasia (Masson′s tumor is a benign lesion of the skin and subcutaneous tissue consisting of a reactive proliferation of endothelial cells with papillary formations related to a thrombus. It poses a diagnostic challenge as the clinical signs and symptoms are nonspecific and may mimic a soft tissue sarcoma. The diagnosis is based on histopathology. Here we report two cases of Masson′s hemangioma occurring on the upper lip and on the left hand.

  16. Worse Prognosis in Papillary, Compared to Tubular, Early Gastric Carcinoma

    Science.gov (United States)

    Yu, Huiping; Fang, Cheng; Chen, Lin; Shi, Jiong; Fan, Xianshan; Zou, Xiaoping; Huang, Qin

    2017-01-01

    Purpose: Papillary early gastric carcinoma (EGC) is uncommon but shows worse prognosis in our most recent study in a Chinese population with unknown reasons. The aim of the present study was to further investigate risk factors for worse prognosis in patients with papillary adenocarcinoma, compared to those with tubular adenocarcinoma. Methods: We searched the electronic pathology databank for radical gastrectomy cases over an 8-year period at a single medical center in Nanjing, China, and identified consecutive 240 EGC cases that were classified as either papillary (n=59) or tubular (n=181) EGC tumors in accordance with the World Health Organization (WHO) gastric cancer diagnosis criteria. We investigated and compared clinicopathologic risk factors for prognosis between papillary and tubular EGC groups. All patients were followed up and their 5-year survival rate was compared statistically with the Kaplan-Meier method with a log rank test. Results: Compared to tubular EGCs, papillary EGCs were significantly more common in elderly patients, more frequently occurred in the proximal stomach with protruding/elevated growth patterns, submucosal invasion, and a micropapillary component. Although lymphovascular invasion (16.9%), nodal (13.6%) and distant (11.8%) metastases in papillary EGCs were more frequent than those (8.3%, 7.2%, and 3.7%, respectively) in tubular EGCs, the differences approached but did not reach statistically significant levels. Significant risk factors for nodal metastasis included lymphovascular invasion in both EGC groups, but the ulcerative pattern and submucosal invasion only in tubular EGCs. The 5-year survival rate was significantly worse in papillary (80.5%) than in tubular (96.8%) EGCs. Conclusions: Compared to tubular EGCs, papillary EGCs diagnosed with the WHO criteria in Chinese patients were more frequent in elderly patients, proximal stomach and showed the significantly worse 5-year survival rate with more protruding/elevated growth

  17. A Review of Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    Mogoş Tiberius

    2016-03-01

    Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

  18. Mouse Model of Human Hereditary Pancreatitis

    Science.gov (United States)

    2015-09-01

    arginine faster than after lysine. Construction of mutants was accomplished using standard molecular biology methodology. Please note that amino...Project Role: Research Assistant Professor Researcher Identifier (e.g. ORCID ID): orcid.org/0000-0001-8687-470X Nearest person month worked: 6 months...Support: This grant. Name: Laura Cosen de Binker, Ph.D. Project Role: Research Assistant Professor Researcher Identifier (e.g. ORCID ID): orcid.org

  19. Pathogenesis of acidosis in hereditary fructose intolerance.

    Science.gov (United States)

    Richardson, R M; Little, J A; Patten, R L; Goldstein, M B; Halperin, M L

    1979-11-01

    An 18-yr-old man with a classical history of hereditary fructose intolerance (HFI) developed typical biochemical changes following an oral fructose load: fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis. Hypokalemia (3.1 meq/liter) was also noted. Three aspects of this case expand the published literature on this syndrome: (1) Metabolic acidosis was found to be due to both lactic acidosis and proximal renal tubular acidosis (RTA). We could quantitate the relative contribution of each, and found that urinary bicarbonate loss due to proximal RTA accounted for less than 10% of the fall in serum bicarbonate. The major cause of the metabolic acidosis was lactic acidosis. (2) Hypokalemia was found to be due to movement of potassium out of the extracellular space rather than to urinary loss. Potassium may have entered cells with phosphate or may have been sequestered in the gastrointestinal tract. (3) The coexistence of proximal RTA and acidemia made it possible to study the effect of acidemia on the urine-blood partial pressure of carbon dioxide (PCO2) gradient in alkaline urine (U-B PCO2). The U-B PCO2 measured during acidemia was much higher at the same urine bicarbonate concentration than in normal controls during alkalemia, providing evidence in humans that acidemia stimulates distal nephron hydrogen-ion secretion.

  20. Decitabine in Treating Patients With Metastatic Papillary Thyroid Cancer or Follicular Thyroid Cancer Unresponsive to Iodine I 131

    Science.gov (United States)

    2014-08-20

    Recurrent Thyroid Cancer; Stage IVA Follicular Thyroid Cancer; Stage IVA Papillary Thyroid Cancer; Stage IVB Follicular Thyroid Cancer; Stage IVB Papillary Thyroid Cancer; Stage IVC Follicular Thyroid Cancer; Stage IVC Papillary Thyroid Cancer

  1. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  2. Prevalence of autoantibodies in a group of hereditary angioedema patients.

    Science.gov (United States)

    Dortas Junior, Sergio Duarte; Valle, Solange Oliveira Rodrigues; Levy, Soloni Afra Pires; Tortora, Rosangela P; Abe, Augusto Tiaqui; Pires, Gisele Viana; Papi, José Angelo de Souza; França, Alfeu Tavares

    2012-01-01

    Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well documented. We aim to determine the prevalence of AAB so that individuals at risk of developing autoimmune diseases can be identified. Fifteen patients with Hereditary Angioedema attended at Clementino Fraga Filho University Hospital accepted to participate in this study. Prevalence of AAB was 40%. Our data indicate high prevalence of AAB in patients with Hereditary Angioedema. Large-scale studies should be considered to determine the significance of these AAB in the follow-up care of patients with Hereditary Angioedema.

  3. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    Directory of Open Access Journals (Sweden)

    Ozgur Kartal

    2016-09-01

    Full Text Available Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;abdominal pain and rdquo; is always important even though hereditary angioedema diagnosis exists. And the second; It can be hardy speculated that long term danazol treatment may cause different malignancies. [Cukurova Med J 2016; 41(3.000: 567-569

  4. [Genetics of hereditary iron overload].

    Science.gov (United States)

    Le Gall, Jean-Yves; Jouanolle, Anne-Marie; Fergelot, Patricia; Mosser, Jean; David, Véronique

    2004-01-01

    The classification of hereditary abnormalities of iron metabolism was recently expanded and diversified. Genetic hemochromatosis now corresponds to six diseases, namely classical hemochromatosis HFE 1; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 (TfR2); hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin; and hemochromatosis HFE 6 whose gene is hepcidine (HAMP). Systemic iron overload is also associated with aceruloplasminemia, atransferrinemia and the "Gracile" syndrome caused by mutations in BCS1L. The genes responsible for neonatal and African forms of iron overload are unknown. Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's ataxia, are disorders of mitochondrial metabolism.

  5. Intraductal papillary mucinous neoplasm of pancreas

    Directory of Open Access Journals (Sweden)

    Norman Oneil Machado

    2015-01-01

    Full Text Available Intraductal papillary mucinous neoplasms (IPMNs of the pancreas are neoplasms that are characterized by ductal dilation, intraductal papillary growth, and thick mucus secretion. This relatively recently defined pathology is evolving in terms of its etiopathogenesis, clinical features, diagnosis, management, and treatment guidelines. A PubMed database search was performed. All the relevant abstracts in English language were reviewed and the articles in which cases of IPMN could be identified were further scrutinized. Information of IPMN was derived, and duplication of information in several articles and those with areas of persisting uncertainties were excluded. The recent consensus guidelines were examined. The reported incidence of malignancy varies from 57% to 92% in the main duct-IPMN (MD-IPMN and from 6% to 46% in the branch duct-IPMN (BD-IPMN. The features of high-risk malignant lesions that raise concern include obstructive jaundice in a patient with a cystic lesion in the pancreatic head, the findings on radiological imaging of a mass lesion of >30 mm, enhanced solid component, and the main pancreatic duct (MPD of size ≥10 mm; while duct size 5-9 mm and cyst size <3 mm are considered as "worrisome features." Magnetic resonance imaging (MRI and endoscopic ultrasound (EUS are primary investigations in diagnosing and following up on these patients. The role of pancreatoscopy and the analysis of aspirated cystic fluid for cytology and DNA analysis is still to be established. In general, resection is recommended for most MD-IPMN, mixed variant, and symptomatic BD-IPMN. The 5-year survival of patients after surgical resection for noninvasive IPMN is reported to be at 77-100%, while for those with invasive carcinoma, it is significantly lower at 27-60%. The follow-up of these patients could vary from 6 months to 1 year and would depend on the risk stratification for invasive malignancy and the pathology of the resected specimen. The

  6. Origin and types of calcium oxalate monohydrate papillary renal calculi.

    Science.gov (United States)

    Grases, Fèlix; Costa-Bauzá, Antonia; Gomila, Isabel; Conte, Antonio

    2010-12-01

    Subepithelial hydroxyapatite calcification of renal papilla is thought to be involved in the formation of calcium oxalate monohydrate (COM) papillary calculi. To assess the mechanism of formation, we sought to correlate the fine structure of papillary renal calculi with specific pathophysiologic conditions and urinary alterations. The study included 831 COM papillary renal calculi with established fine inner structures. A total of 24 patients with chronic stone formation were randomly selected, and their urine was collected and analyzed. The case history and lifestyle habits of these patients were obtained. The 831 papillary calculi could be classified into 1 of 4 main groups. Type I included small calculi in which COM columnar crystals begin to develop in the concave zone in close contact with papillary tissue. Type II calculi contained a hydroxyapatite core located in or near the concave zone. Type III consisted of calculi that developed on the tip of the papillae and in the concave zone, containing hydroxyapatite, calcified tissue, and calcified tubules. Type IV consisted of papillary calculi in which the core, which is situated near, but not in, the concave zone, is formed by intergrown COM crystals and organic matter. Many factors, including urinary alterations (eg, hyperoxaluria), associated diseases (eg, hypertension, diabetes), and consumption or exposure to cytotoxic substances (eg, analgesic abuse) were associated with these types of calculi. Our findings have indicated that injury is the first cause of papillary COM calculus formation, with the location of the injury determining the morphology of the resulting calculus. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. Comprehensive Molecular Characterization of Papillary Renal Cell Carcinoma

    Science.gov (United States)

    Linehan, W. Marston; Spellman, Paul T.; Ricketts, Christopher J.; Creighton, Chad J.; Fei, Suzanne S.; Davis, Caleb; Wheeler, David A.; Murray, Bradley A.; Schmidt, Laura; Vocke, Cathy D.; Peto, Myron; Al Mamun, Abu Amar M.; Shinbrot, Eve; Sethi, Anurag; Brooks, Samira; Rathmell, W. Kimryn; Brooks, Angela N.; Hoadley, Katherine A.; Robertson, A. Gordon; Brooks, Denise; Bowlby, Reanne; Sadeghi, Sara; Shen, Hui; Weisenberger, Daniel J.; Bootwalla, Moiz; Baylin, Stephen B.; Laird, Peter W.; Cherniack, Andrew D.; Saksena, Gordon; Haake, Scott; Li, Jun; Liang, Han; Lu, Yiling; Mills, Gordon B.; Akbani, Rehan; Leiserson, Mark D.M.; Raphael, Benjamin J.; Anur, Pavana; Bottaro, Donald; Albiges, Laurence; Barnabas, Nandita; Choueiri, Toni K.; Czerniak, Bogdan; Godwin, Andrew K.; Hakimi, A. Ari; Ho, Thai; Hsieh, James; Ittmann, Michael; Kim, William Y.; Krishnan, Bhavani; Merino, Maria J.; Mills Shaw, Kenna R.; Reuter, Victor E.; Reznik, Ed; Shelley, Carl Simon; Shuch, Brian; Signoretti, Sabina; Srinivasan, Ramaprasad; Tamboli, Pheroze; Thomas, George; Tickoo, Satish; Burnett, Kenneth; Crain, Daniel; Gardner, Johanna; Lau, Kevin; Mallery, David; Morris, Scott; Paulauskis, Joseph D.; Penny, Robert J.; Shelton, Candace; Shelton, W. Troy; Sherman, Mark; Thompson, Eric; Yena, Peggy; Avedon, Melissa T.; Bowen, Jay; Gastier-Foster, Julie M.; Gerken, Mark; Leraas, Kristen M.; Lichtenberg, Tara M.; Ramirez, Nilsa C.; Santos, Tracie; Wise, Lisa; Zmuda, Erik; Demchok, John A.; Felau, Ina; Hutter, Carolyn M.; Sheth, Margi; Sofia, Heidi J.; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean C.; Zhang, Jiashan (Julia); Ayala, Brenda; Baboud, Julien; Chudamani, Sudha; Liu, Jia; Lolla, Laxmi; Naresh, Rashi; Pihl, Todd; Sun, Qiang; Wan, Yunhu; Wu, Ye; Ally, Adrian; Balasundaram, Miruna; Balu, Saianand; Beroukhim, Rameen; Bodenheimer, Tom; Buhay, Christian; Butterfield, Yaron S.N.; Carlsen, Rebecca; Carter, Scott L.; Chao, Hsu; Chuah, Eric; Clarke, Amanda; Covington, Kyle R.; Dahdouli, Mahmoud; Dewal, Ninad; Dhalla, Noreen; Doddapaneni, HarshaVardhan; Drummond, Jennifer; Gabriel, Stacey B.; Gibbs, Richard A.; Guin, Ranabir; Hale, Walker; Hawes, Alicia; Hayes, D. Neil; Holt, Robert A.; Hoyle, Alan P.; Jefferys, Stuart R.; Jones, Steven J.M.; Jones, Corbin D.; Kalra, Divya; Kovar, Christie; Lewis, Lora; Li, Jie; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Meng, Shaowu; Meyerson, Matthew; Mieczkowski, Piotr A.; Moore, Richard A.; Morton, Donna; Mose, Lisle E.; Mungall, Andrew J.; Muzny, Donna; Parker, Joel S.; Perou, Charles M.; Roach, Jeffrey; Schein, Jacqueline E.; Schumacher, Steven E.; Shi, Yan; Simons, Janae V.; Sipahimalani, Payal; Skelly, Tara; Soloway, Matthew G.; Sougnez, Carrie; Tam, Angela; Tan, Donghui; Thiessen, Nina; Veluvolu, Umadevi; Wang, Min; Wilkerson, Matthew D.; Wong, Tina; Wu, Junyuan; Xi, Liu; Zhou, Jane; Bedford, Jason; Chen, Fengju; Fu, Yao; Gerstein, Mark; Haussler, David; Kasaian, Katayoon; Lai, Phillip; Ling, Shiyun; Radenbaugh, Amie; Van Den Berg, David; Weinstein, John N.; Zhu, Jingchun; Albert, Monique; Alexopoulou, Iakovina; Andersen, Jeremiah J; Auman, J. Todd; Bartlett, John; Bastacky, Sheldon; Bergsten, Julie; Blute, Michael L.; Boice, Lori; Bollag, Roni J.; Boyd, Jeff; Castle, Erik; Chen, Ying-Bei; Cheville, John C.; Curley, Erin; Davies, Benjamin; DeVolk, April; Dhir, Rajiv; Dike, Laura; Eckman, John; Engel, Jay; Harr, Jodi; Hrebinko, Ronald; Huang, Mei; Huelsenbeck-Dill, Lori; Iacocca, Mary; Jacobs, Bruce; Lobis, Michael; Maranchie, Jodi K.; McMeekin, Scott; Myers, Jerome; Nelson, Joel; Parfitt, Jeremy; Parwani, Anil; Petrelli, Nicholas; Rabeno, Brenda; Roy, Somak; Salner, Andrew L.; Slaton, Joel; Stanton, Melissa; Thompson, R. Houston; Thorne, Leigh; Tucker, Kelinda; Weinberger, Paul M.; Winemiller, Cythnia; Zach, Leigh Anne; Zuna, Rosemary

    2016-01-01

    Background Papillary renal cell carcinoma, accounting for 15% of renal cell carcinoma, is a heterogeneous disease consisting of different types of renal cancer, including tumors with indolent, multifocal presentation and solitary tumors with an aggressive, highly lethal phenotype. Little is known about the genetic basis of sporadic papillary renal cell carcinoma; no effective forms of therapy for advanced disease exist. Methods We performed comprehensive molecular characterization utilizing whole-exome sequencing, copy number, mRNA, microRNA, methylation and proteomic analyses of 161 primary papillary renal cell carcinomas. Results Type 1 and Type 2 papillary renal cell carcinomas were found to be different types of renal cancer characterized by specific genetic alterations, with Type 2 further classified into three individual subgroups based on molecular differences that influenced patient survival. MET alterations were associated with Type 1 tumors, whereas Type 2 tumors were characterized by CDKN2A silencing, SETD2 mutations, TFE3 fusions, and increased expression of the NRF2-ARE pathway. A CpG island methylator phenotype (CIMP) was found in a distinct subset of Type 2 papillary renal cell carcinoma characterized by poor survival and mutation of the fumarate hydratase (FH) gene. Conclusions Type 1 and Type 2 papillary renal cell carcinomas are clinically and biologically distinct. Alterations in the MET pathway are associated with Type 1 and activation of the NRF2-ARE pathway with Type 2; CDKN2A loss and CIMP in Type 2 convey a poor prognosis. Furthermore, Type 2 papillary renal cell carcinoma consists of at least 3 subtypes based upon molecular and phenotypic features. PMID:26536169

  8. Papillary Carcinoma Arising in Struma Ovarii

    Directory of Open Access Journals (Sweden)

    Yavuz Yalçın

    2015-09-01

    Full Text Available Struma ovarii, which is classified as benign or malignant, is a mature ovarian teratoma consisting mainly of the thyroid tissue. Here, we present the case of malign struma ovarii in a patient with right adnexal mass. In a 53-year-old female, who was referred to our hospital with pelvic pain, abdominopelvic imaging revealed a cystic lesion measuring 15x14 cm in diameter in the right adnexa. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. Microscopic evaluation revealed a 1.5x1x0.5 cm papillary carcinoma focus in frozen sections of the mural nodule which was observed inside the cyst. Following the surgical procedure, the patient’s TSH levels were kept low by thyroxine treatment, and it was decided to follow the patient by annual measurement of thyroglobulin levels and pelvic imaging. There is not a common consensus on optimal treatment of malignant struma ovarii. Treatment options depend on cases or case series. Turk Jem 2015; 19: 112-114

  9. Integrated Genomic Characterization of Papillary Thyroid Carcinoma

    Science.gov (United States)

    Agrawal, Nishant; Akbani, Rehan; Aksoy, B. Arman; Ally, Adrian; Arachchi, Harindra; Asa, Sylvia L.; Auman, J. Todd; Balasundaram, Miruna; Balu, Saianand; Baylin, Stephen B.; Behera, Madhusmita; Bernard, Brady; Beroukhim, Rameen; Bishop, Justin A.; Black, Aaron D.; Bodenheimer, Tom; Boice, Lori; Bootwalla, Moiz S.; Bowen, Jay; Bowlby, Reanne; Bristow, Christopher A.; Brookens, Robin; Brooks, Denise; Bryant, Robert; Buda, Elizabeth; Butterfield, Yaron S.N.; Carling, Tobias; Carlsen, Rebecca; Carter, Scott L.; Carty, Sally E.; Chan, Timothy A.; Chen, Amy Y.; Cherniack, Andrew D.; Cheung, Dorothy; Chin, Lynda; Cho, Juok; Chu, Andy; Chuah, Eric; Cibulskis, Kristian; Ciriello, Giovanni; Clarke, Amanda; Clayman, Gary L.; Cope, Leslie; Copland, John; Covington, Kyle; Danilova, Ludmila; Davidsen, Tanja; Demchok, John A.; DiCara, Daniel; Dhalla, Noreen; Dhir, Rajiv; Dookran, Sheliann S.; Dresdner, Gideon; Eldridge, Jonathan; Eley, Greg; El-Naggar, Adel K.; Eng, Stephanie; Fagin, James A.; Fennell, Timothy; Ferris, Robert L.; Fisher, Sheila; Frazer, Scott; Frick, Jessica; Gabriel, Stacey B.; Ganly, Ian; Gao, Jianjiong; Garraway, Levi A.; Gastier-Foster, Julie M.; Getz, Gad; Gehlenborg, Nils; Ghossein, Ronald; Gibbs, Richard A.; Giordano, Thomas J.; Gomez-Hernandez, Karen; Grimsby, Jonna; Gross, Benjamin; Guin, Ranabir; Hadjipanayis, Angela; Harper, Hollie A.; Hayes, D. Neil; Heiman, David I.; Herman, James G.; Hoadley, Katherine A.; Hofree, Matan; Holt, Robert A.; Hoyle, Alan P.; Huang, Franklin W.; Huang, Mei; Hutter, Carolyn M.; Ideker, Trey; Iype, Lisa; Jacobsen, Anders; Jefferys, Stuart R.; Jones, Corbin D.; Jones, Steven J.M.; Kasaian, Katayoon; Kebebew, Electron; Khuri, Fadlo R.; Kim, Jaegil; Kramer, Roger; Kreisberg, Richard; Kucherlapati, Raju; Kwiatkowski, David J.; Ladanyi, Marc; Lai, Phillip H.; Laird, Peter W.; Lander, Eric; Lawrence, Michael S.; Lee, Darlene; Lee, Eunjung; Lee, Semin; Lee, William; Leraas, Kristen M.; Lichtenberg, Tara M.; Lichtenstein, Lee; Lin, Pei; Ling, Shiyun; Liu, Jinze; Liu, Wenbin; Liu, Yingchun; LiVolsi, Virginia A.; Lu, Yiling; Ma, Yussanne; Mahadeshwar, Harshad S.; Marra, Marco A.; Mayo, Michael; McFadden, David G.; Meng, Shaowu; Meyerson, Matthew; Mieczkowski, Piotr A.; Miller, Michael; Mills, Gordon; Moore, Richard A.; Mose, Lisle E.; Mungall, Andrew J.; Murray, Bradley A.; Nikiforov, Yuri E.; Noble, Michael S.; Ojesina, Akinyemi I.; Owonikoko, Taofeek K.; Ozenberger, Bradley A.; Pantazi, Angeliki; Parfenov, Michael; Park, Peter J.; Parker, Joel S.; Paull, Evan O.; Pedamallu, Chandra Sekhar; Perou, Charles M.; Prins, Jan F.; Protopopov, Alexei; Ramalingam, Suresh S.; Ramirez, Nilsa C.; Ramirez, Ricardo; Raphael, Benjamin J.; Rathmell, W. Kimryn; Ren, Xiaojia; Reynolds, Sheila M.; Rheinbay, Esther; Ringel, Matthew D.; Rivera, Michael; Roach, Jeffrey; Robertson, A. Gordon; Rosenberg, Mara W.; Rosenthall, Matthew; Sadeghi, Sara; Saksena, Gordon; Sander, Chris; Santoso, Netty; Schein, Jacqueline E.; Schultz, Nikolaus; Schumacher, Steven E.; Seethala, Raja R.; Seidman, Jonathan; Senbabaoglu, Yasin; Seth, Sahil; Sharpe, Samantha; Mills Shaw, Kenna R.; Shen, John P.; Shen, Ronglai; Sherman, Steven; Sheth, Margi; Shi, Yan; Shmulevich, Ilya; Sica, Gabriel L.; Simons, Janae V.; Sipahimalani, Payal; Smallridge, Robert C.; Sofia, Heidi J.; Soloway, Matthew G.; Song, Xingzhi; Sougnez, Carrie; Stewart, Chip; Stojanov, Petar; Stuart, Joshua M.; Tabak, Barbara; Tam, Angela; Tan, Donghui; Tang, Jiabin; Tarnuzzer, Roy; Taylor, Barry S.; Thiessen, Nina; Thorne, Leigh; Thorsson, Vésteinn; Tuttle, R. Michael; Umbricht, Christopher B.; Van Den Berg, David J.; Vandin, Fabio; Veluvolu, Umadevi; Verhaak, Roel G.W.; Vinco, Michelle; Voet, Doug; Walter, Vonn; Wang, Zhining; Waring, Scot; Weinberger, Paul M.; Weinstein, John N.; Weisenberger, Daniel J.; Wheeler, David; Wilkerson, Matthew D.; Wilson, Jocelyn; Williams, Michelle; Winer, Daniel A.; Wise, Lisa; Wu, Junyuan; Xi, Liu; Xu, Andrew W.; Yang, Liming; Yang, Lixing; Zack, Travis I.; Zeiger, Martha A.; Zeng, Dong; Zenklusen, Jean Claude; Zhao, Ni; Zhang, Hailei; Zhang, Jianhua; Zhang, Jiashan (Julia); Zhang, Wei; Zmuda, Erik; Zou., Lihua

    2014-01-01

    Summary Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D and CHEK2 and diverse gene fusions. These discoveries reduced the fraction of PTC cases with unknown oncogenic driver from 25% to 3.5%. Combined analyses of genomic variants, gene expression, and methylation demonstrated that different driver groups lead to different pathologies with distinct signaling and differentiation characteristics. Similarly, we identified distinct molecular subgroups of BRAF-mutant tumors and multidimensional analyses highlighted a potential involvement of oncomiRs in less-differentiated subgroups. Our results propose a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties, which has the potential to improve their pathological classification and better inform the management of the disease. PMID:25417114

  10. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... Conditions HSAN5 hereditary sensory and autonomic neuropathy type V Enable Javascript to view the expand/collapse boxes. ... All Description Hereditary sensory and autonomic neuropathy type V ( HSAN5 ) is a condition that primarily affects the ...

  11. Rhucin, a recombinant C1 inhibitor for the treatment of hereditary angioedema and cerebral ischemia.

    Science.gov (United States)

    Longhurst, Hilary

    2008-03-01

    Pharming NV and Esteve are developing Rhucin, a recombinant human C1 esterase inhibitor. Rhucin is currently undergoing phase III clinical trials in North America and is awaiting regulatory approval in Western Europe for the treatment of prophylactic and acute hereditary angioedema. Pharming is also investigating Rhucin for the potential treatment of cerebral ischemic injury.

  12. Marked reduction of spectrin in hereditary spherocytosis in the common house mouse

    Energy Technology Data Exchange (ETDEWEB)

    Greenquist, A.C.; Shohet, S.B.; Bernstein, S.E.

    1978-06-01

    In contrast to the disease in humans, hereditary spherocytosis in the common house mouse produces an extreme spherocytosis. The cells show a broad distribution in size ranging from microcytic to macrocytic. Of particular interest is the finding of a substantial reduction in the major membrane polypeptide called spectrin, supporting a critical role for this protein in the control of erythrocyte shape and membrane stability.

  13. Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies

    NARCIS (Netherlands)

    Jazayeri, Omid

    2016-01-01

    The research presented in this thesis focuses on using Whole Exome Sequencing (WES) to unravel the genetic basis of human hereditary disorders with different inheritance patterns. We set out to apply WES as a diagnostic approach for establishing a molecular diagnosis in a highly heterogeneous group

  14. Endocrine dysfunction in hereditary hemochromatosis.

    Science.gov (United States)

    Pelusi, C; Gasparini, D I; Bianchi, N; Pasquali, R

    2016-08-01

    Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies. The pathogenesis of diabetes is still relatively unclear, but the main mechanisms include the loss of insulin secretory capacity and insulin resistance secondary to liver damage. The presence of obesity and/or genetic predisposition may represent addictive risk factor for the development of this metabolic disease. Although old cases of primary gonad involvement are described, hypogonadism is mainly secondary to selective deposition of iron on the gonadotropin-producing cells of the pituitary gland, leading to hormonal impaired secretion. Cases of hypopituitarism or selected tropin defects, and abnormalities of adrenal, thyroid and parathyroid glands, even if rare, are reported. The prevalence of individual gland dysfunction varies enormously within studies for several bias due to small numbers of and selected cases analyzed, mixed genotypes and missing data on medical history. Moreover, in the last few years early screening and awareness of the disease among physicians have allowed hemochromatosis to be diagnosed in most cases at early stages when patients have no symptoms. Therefore, the clinical presentation of this disease has changed significantly and the recognized common complications are encountered less frequently. This review summarizes the current knowledge on HH-associated endocrinopathies.

  15. Late onset hereditary episodic ataxia.

    Science.gov (United States)

    Damak, M; Riant, F; Boukobza, M; Tournier-Lasserve, E; Bousser, M-G; Vahedi, K

    2009-05-01

    Episodic ataxias (EA) are hereditary paroxysmal neurological diseases with considerable clinical and genetic heterogeneity. So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA. A two generation French family with late onset episodic ataxia was examined. All consenting family members had a brain MRI with volumetric analysis of the cerebellum. Haplotype analysis was performed for the EA2 locus (19p13), the EA5 locus (2q22), the EA6 locus (5p13) and the EA7 locus (19q13). Mutation screening was performed for all exons of CACNA1A (EA2), EAAT1 (EA6) and the coding sequence of KCNA1 (EA1). Four family members had episodic ataxia with onset between 48 and 56 years of age but with heterogeneity in the severity and duration of symptoms. The two most severely affected had daily attacks of EA with a slowly progressive and disabling permanent cerebellar ataxia and a poor response to acetazolamide. Brain MRI showed in three affected members a decrease in the ratio of cerebellar volume:total intracranial volume, indicating cerebellar atrophy. No deleterious mutation was found in CACNA1A, SCA6, EAAT1 or KCNA1. In addition, the EA5 locus was excluded. A new phenotype of episodic ataxia has been described, characterised clinically by a late onset and progressive permanent cerebellar signs, and genetically by exclusion of the genes so far identified in EA.

  16. Simultaneous Laryngeal Squamous Cell Carcinoma and Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Bighan Khademi

    2011-04-01

    Full Text Available The association of squamous cell carcinoma of the larynx with thyroid papillary carcinoma is an unusual finding. From 2004 to 2011, approximately 250 patients underwent laryngectomies due to squamous cell carcinoma of the larynx at the Otolaryngology Department of Khalili Hospital, affiliated with Shiraz University of Medical Sciences, Shiraz, Iran. In three patients, synchronous occurrence of squamous cell carcinoma and thyroid papillary carcinoma was found. Histopathologic study of the lymph nodes revealed metastatic papillary thyroid carcinoma in one case. We report three cases of thyroid papillary carcinoma incidentally found on histological examinations of resected thyroid lobes, as a procedure required for treatment of head and neck squamous cell carcinoma. In comparison, laryngeal squamous cell carcinoma needs more aggressive treatment than well-differentiated thyroid carcinoma. The prevalence of thyroid papillary carcinoma, as an incidental finding in our study was 0.01%. Therefore, preoperative evaluation of the thyroid gland by ultrasonography and fine needle aspiration biopsy of suspicious lesions is recommended in patients who are candidates for open laryngectomy.

  17. Intraparenchymal papillary meningioma of brainstem: case report and literature review

    Directory of Open Access Journals (Sweden)

    Jiang Xiao-Bing

    2012-01-01

    Full Text Available Abstract Both intraparenchymal papillary meningioma and papillary meningioma with cyst formation of brainstem have never been reported. The authors present an extremely rare case of patient with intraparenchymal papillary meningioma of brainstem. A 23-year-old Chinese male presented with a 4-month history of progressive left upper limb and facial nerve palsy. Magnetic resonance imaging revealed a cystic-solid, heterogeneously enhancing mass in pons and right cerebral peduncle with no dural attachment. The tumor was totally removed via subtemporal approach. During surgery, the lesion was found to be completely intraparenchymal. Histological and immunohistochemical examinations were compatible with the diagnosis of papillary meningioma. The lesion recurred nine months after primary surgery, a second surgery followed by radiotherapy was performed. Till to now (nearly 2 years after the treatment, the patient is tumor free survival. Intraparenchymal meningioma of brainstem with cystic formation is very rare, however, it should be considered as a differential diagnosis of a brainstem neoplasm. The present case strongly recommended that postoperative radiotherapy was essential for the patients with papillary meningiomas.

  18. Hyalinizing trabecular tumor and papillary carcinoma of the thyroid

    Institute of Scientific and Technical Information of China (English)

    ZHU Hong; QI Ji-ping; WANG Ying-wei; SONG Yue-jia; ZHANG Zhi-yi

    2010-01-01

    Background Hyalinizing trabecular tumor (HTT) is a rare thyroid neoplasm, which shares some histologic features with thyroid papillary carcinoma (TPC). Clinically, it is frequently misdiagnosed as papillary carcinoma, even for some experienced pathologists. The aim of this study was to investigate whether HTT is variant of TPC or HTT is an independent entity of thyroid neoplasm.Methods The expression of CK19, galectin-3, HBME-1 and MIB-1 was detected by immunohistochemical staining in 12 cases of hyalinizing trabecular tumor and 20 cases of thyroid papillary carcinoma.Results Two of the 12 HTT samples were positive or focally positive for CK19. Four of the 12 samples of HTT presented positive to galectin-3; 3 were stained strongly and the other one was focally positive. None of the 12 samples of HTT was positive for HBME-1. Five in 12 HTT samples were stained in nucleus for MIB-1. Almost all the 20 cases of thyroid papillary carcinoma were intensely stained for CK19, galectin-3 and HBME-1. Fifteen in 20 cases of thyroid papillary carcinoma showed nuclear staining for MIB-1.Conclusions HTT is an independent thyroid neoplasm, not a variant of TPC. This study could help in the differential diagnosis of HTT from TPC. CK19, galectin-3 and HBME-1 are adequate to identify HTT and TPC, but MIB-1 does not play an important role in discrimination between HTT and TPC.

  19. Papillary thyroid microcarcinoma presenting as skull base metastasis

    Institute of Scientific and Technical Information of China (English)

    YAN Bo; LIU Dian-gang; L(U) Hai-li; ZHANG Qiu-hang

    2010-01-01

    @@ Papillary thyroid carcinoma (PTC) is the most common type of well-differentiated thyroid cancer and is considered to be a relatively indolent tumor in which distant metastasis and death are rare.1 The metastasis of PTC is usually to regional lymph nodes, especially the cervical and mediastinal nodes. Metastases to the brain are rare, and constitute 0.1%-5.0% of distant metastases of papillary carcinoma.2 Skull metastasis is uncommon,and is found in 2.5%-5.8% of cases of thyroid cancer.3 Skull base metastasis of PTC is extremely rare, with only eight reported cases in the literature involving the clivus,cavernous sinus, sella turcica, and the petrous apex and ridge.4 A metastatic lesion can arise from histologically benign and silent thyroid neoplasms,5 and differential diagnosis between ectopic and metastatic thyroid cancer can be difficult,6 therefore, the management of thyroid cancer is controversial after removal of metastatic disease.Here we reported a case of papillary thyroid microcarcinoma (PTMC) that was manifested as a solitary clivus metastasis and discussed the diagnostic and therapeutic management strategies. The 73-year-old patient presented with visual impairment in the right eye,and epistaxis. The patient subsequently underwent complete total thyroidectomy after a diagnosis of papillary microcarcinoma. This finding emphasizes that clinically significant metastases can arise from thyroid papillary microcarcinoma. Total thyroidectomy and careful review of the histology are necessary to prevent delay in proper diagnosis.

  20. Successful endoscopic procedures for intraductal papillary neoplasm of the bile duct:A case report

    Institute of Scientific and Technical Information of China (English)

    Kohei; Tsuchida; Michiko; Yamagata; Yasuyuki; Saifuku; Dan; Ichikawa; Kazunari; Kanke; Toshimitsu; Murohisa; Masaya; Tamano; Makoto; Iijima; Yukiko; Nemoto; Wataru; Shimoda; Toshiaki; Komori; Hirokazu; Fukui; Kazuhito; Ichikawa; Hitoshi; Sugaya; Kazuhito; Miyachi; Takahiro; Fujimori; Hideyuki; Hiraishi

    2010-01-01

    Attention has recently been focused on biliary papillary tumors as the novel disease entity intraductal papillary neoplasm of the bile duct(IPNB),which consists of papillary proliferation of dysplastic biliary epithelium.As even benign papillary tumors are considered as premalignant,some investigators recommend aggressive surgical therapy for IPNB,although no guidelines are available to manage this disease.Few reports have described long-term follow-up of patients with benign IPNB without radical resection....

  1. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian canc...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....

  2. Pancreatic cancer risk in hereditary pancreatitis

    Directory of Open Access Journals (Sweden)

    Frank Ulrich Weiss

    2014-02-01

    Full Text Available Inflammation is part of the body’s immune response in order to remove harmful stimuli – like pathogens, irritants or damaged cells - and start the healing process. Recurrent or chronic inflammation on the other side seems a predisposing factor for carcinogenesis and has been found associated with cancer development. In chronic pancreatitis mutations of the cationic trypsinogen (PRSS1 gene have been identified as risk factors of the disease. Hereditary pancreatitis is a rare cause of chronic pancreatic inflammation with an early onset, mostly during childhood. Hereditary pancreatitis often starts with recurrent episodes of acute pancreatitis and the clinical phenotype is not very much different from other etiologies of the disease. The long-lasting inflammation however generates a tumor promoting environment and represents a major risk factor for tumor development This review will reflect our knowledge concerning the specific risk of hereditary pancreatitis patients to develop pancreatic cancer.

  3. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary...... cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. These monogenic disorders are often characterized by early-age stroke, but also by migraine, mood disturbances, vascular dementia and often gait......Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose...

  4. High liver glycogen in hereditary fructose intolerance.

    Science.gov (United States)

    Cain, A R; Ryman, B E

    1971-11-01

    A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.

  5. Hereditary Cerebellar Ataxias: A Korean Perspective

    Directory of Open Access Journals (Sweden)

    Ji Sun Kim

    2015-05-01

    Full Text Available Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

  6. Methylation of DACT2 promotes papillary thyroid cancer metastasis by activating Wnt signaling.

    Directory of Open Access Journals (Sweden)

    Zhiyan Zhao

    Full Text Available Thyroid cancer is the most common endocrine malignant disease and the incidence is increasing. DACT2 was found frequently methylated in human lung cancer and hepatocellular carcinoma. To explore the epigenetic change and the role of DACT2 in thyroid cancer, 7 thyroid cancer cell lines, 10 cases of non-cancerous thyroid tissue samples and 99 cases of primary thyroid cancer samples were involved in this study. DACT2 was expressed and unmethylated in K1, SW579, FTC-133, TT, W3 and 8505C cell lines. Loss of expression and complete methylation was found in TPC-1 cells. Restoration of DACT2 expression was induced by 5-aza-2'deoxycytidine treatment. It demonstrates that the expression of DACT2 was regulated by promoter region methylation. In human primary papillary thyroid cancer, 64.6% (64/99 was methylated and methylation of DACT2 was related to lymph node metastasis (p<0.01. Re-expression of DACT2 suppresses cell proliferation, invasion and migration in TPC-1 cells. The activity of TCF/LEF was inhibited by DACT2 in wild-type or mutant β-catenin cells. The activity of TCF/LEF was increased by co-transfecting DACT2 and Dvl2 in wild-type or mutant β-catenin cells. Overexpression of wild-type β-catenin promotes cell migration and invasion in DACT2 stably expressed cells. The expression of β-catenin, c-myc, cyclinD1 and MMP-9 were decreased and the level of phosphorylated β-catenin (p-β-catenin was increased after restoration of DACT2 expression in TPC-1 cells. The expression of β-catenin, c-myc, cyclinD1 and MMP-9 were increased and the level of p-β-catenin was reduced after knockdown of DACT2 in W3 and SW579 cells. These results suggest that DACT2 suppresses human papillary thyroid cancer growth and metastasis by inhibiting Wnt signaling. In conclusion, DACT2 is frequently methylated in papillary thyroid cancer. DACT2 expression was regulated by promoter region methylation. DACT2 suppresses papillary thyroid cancer proliferation and metastasis

  7. Spinal papillary meningioma : A case report and review of the literature

    NARCIS (Netherlands)

    Meinsma-van de Tuin, M; Molenaar, WM; Mooij, JJA

    2000-01-01

    A rare case of a spinal papillary meningioma in a 19-year-old adolescent is described. Six months after radical resection the patient showed dissemination along the cerebrospinal pathway. Papillary meningiomas are rare tumours with a relatively high incidence in childhood. Most papillary meningiomas

  8. 金莲花总黄酮对人甲状腺乳头癌 K1细胞三叶因子3表达变化的影响%Effects of Trollius flavonoids on the expression of Trefoil factor 3 in human papillary thyroid cancer K1 cells in vitro

    Institute of Scientific and Technical Information of China (English)

    房涛; 张静; 吴靖芳; 张文静; 张晨磊; 张芸芸; 裴达

    2015-01-01

    Objective To investigate the inhibition effect of Trollius flavonoids on the proliferation of Trefoil factor 3 (TFF3) in human papillary thyroid cancer K1 cells in vitro, and to explore its effect on the expression of TFF3 in K1 cells.Methods The K1 cells cultured in vitro were treated by different concentrations of Trollius flavonoids for 24h,48h,72 h,respectively ,then the inhibition rate on K 1 cells growth was dectected by MTT .The changes of expression of TFF 3 protein/mRNA were detected by Western blotting and Real-time PCR, respectively.Results MTT detection showed that Trollius flavonoids had inhibition effects on proliferation and growth of K 1 cells in a dose and time dependent manner ( P <0.05). The examination results by Western blotting and Real-time PCR showed that the expression levels of TFF 3 protein and mRNA of K1 cells were decreased with the increase of flavonoids concentration ( P <0 .05 ) .Conclusion Trollius flavonoids have the inhibition effect on human throid papillary cancer cells and can inhibit the expression of TFF 3.%目的:探讨金莲花总黄酮对人甲状腺乳头癌K1细胞增殖抑制作用及三叶因子3(TFF3)表达变化。方法不同浓度金莲花总黄酮作用于体外培养K1细胞24、48、72 h,MTT检测细胞生长抑制率,Western blotting 和Real-time PCR检测不同浓度总黄酮对K1细胞TFF3蛋白及mRNA表达的影响。结果 MTT实验结果表明,同一时间总黄酮对K1细胞生长增殖抑制率随着药物浓度的增高而升高( P <0›.05),同一浓度总黄酮对K1细胞抑制率随时间延长而升高( P <0.05)。 Western blot及QPCR结果显示随着金莲花总黄酮浓度的升高K1细胞TFF3蛋白及mRNA水平下降( P <0.05)。结论金莲花总黄酮对人甲状腺乳头癌细胞具有抑制作用,并能抑制TFF3的表达。

  9. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

    Science.gov (United States)

    Takashima, Hiroshi

    2014-01-01

    Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

  10. [Hereditary optic neuropathies: clinical and molecular genetic characteristics].

    Science.gov (United States)

    Khanakova, N A; Sheremet, N L; Loginova, A N; Chukhrova, A L; Poliakov, A V

    2013-01-01

    The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

  11. Extramedullary paraspinal hematopoiesis in hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Gogia P

    2008-01-01

    Full Text Available Hereditary spherocytosis (HS is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver and lymph nodes; but in HS, the posterior paravertebral mediastinum is also commonly involved. We report a case of a 50-year-old male who presented to us in respiratory distress and with bilateral paravertebral posterior mediastinal masses, which on trucut biopsy were found to be extra-hematopoietic masses; and the patient was found to have hereditary spherocytosis.

  12. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

    Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

    2008-01-01

    project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills......OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...

  13. Hereditary angioedema with normal C1 inhibitor.

    Science.gov (United States)

    Bork, Konrad

    2013-11-01

    Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.

  14. Diagnosis and management of hereditary hemochromatosis.

    Science.gov (United States)

    Salgia, Reena J; Brown, Kimberly

    2015-02-01

    Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis.

  15. Albright hereditary osteodystrophy: A rare case report

    Directory of Open Access Journals (Sweden)

    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  16. A Case of Patella Metastasis of Papillary Thyroid Carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Han, Eun Ji; Choi, Woo Hee; Chung, Yong An; Sohn, Hyung Sun; Kang, Chang Suk [College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2009-02-15

    A 73-year-old man presented with a chief complaint of progressive left knee pain for two months. He had a history of total thyroidectomy and central lymph node dissection due to papillary thyroid carcinoma three months ago. MRI images revealed a solid mass in the left patella. A solid mass demonstrated low signal on T1 weighed image, and high signal on T2 weighed image. And whole body bone scan showed focal photon defect in same lesion of left patella. The histologic result of left knee lesion was adenocarcinoma, consistent with metastatic papillary thyroid carcinoma. Although patellar metastasis of papillary thyroid carcinoma is very rare, when knee pain and radiologic abnormality are noted, differential diagnosis of metastasis is necessary.

  17. [Kartagener syndrome and papillary thyroid carcinoma: an unusual combination].

    Science.gov (United States)

    Ren, Jingyuan; Wang, Xurui; He, Zhongyin

    2015-11-01

    A case of a papillary thyroid carcinoma in a patient with situs inversus with associated bronchiectasis and chronic sinusitis (Kartagener's syndrome) is reported. A 61-year-old male patient has the symptoms of nasal obstruction. nasal purulent discharge and headache for 2 years. Physical examination: right nasal purulent in right nasal cavity and multiple lychee-like opaque mass in right middle meatus. A nodule, one centimeter in diameter, locates in the upper pole of right thyroid. Evidence of full situs inversus viscerum can be confirmmed by chest radiographs and ultrasound doppler. Pathology: right nasal polyps, the right small papillary thyroid cancer. TEM Tip primary ciliary dyskinesia. Clinical diagnosis: Kartagener syndrome, papillary thyroid carcinoma (T1a N0 M0, I period), chronic sinusitis-nasal polyps.

  18. Papillary thyroid carcinoma presenting as an asymptomatic pelvic bone metastases

    Directory of Open Access Journals (Sweden)

    Siddiq S

    2010-05-01

    Full Text Available Thyroid carcinoma is rare comprising 1% of all malignancies and commonly presents as a neck lump. Papillary thyroid carcinoma unlike follicular thyroid carcinoma tends not to metastasise to distant sites.We present a case of papillary thyroid carcinoma presenting as a solitary asymptomatic pelvic bone metastases and highlight current management of bone metastases. A 59-year old female was found on abdominal computerised tomography to have an incidental finding of a 4.5 cm soft tissue mass in the right iliac bone. Biopsy of the lesion confirmed metastatic thyroid carcinoma. There was no history of a neck lump, head and neck examination was normal. Further imaging confirmed focal activity in the right lobe of the thyroid. A total thyroidectomy and level VI neck dissection was performed and histology confirmed follicular variant of papillary carcinoma.Early detection of bone metastases have been shown to improve prognosis and thyroid carcinoma should be considered as a potential primary malignancy.

  19. Synchronous Parathyroid and Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Shi-Dou Lin

    2005-02-01

    Full Text Available Concomitant thyroid disease is not unusual among patients with primary hyperparathyroidism. However, the simultaneous occurrence of parathyroid and thyroid carcinoma is extremely rare. We report a 38-year-old man with primary hyperparathyroidism who presented with osteitis fibrosa cystica complicated with pathologic femoral neck fracture. Preoperative investigation for exclusion of multiple endocrine neoplasia did not find evidence of medullary thyroid carcinoma or pheochromocytoma, but imaging studies revealed the presence of nodules in the right lobe and a parathyroid lesion over the left inferior pole of the thyroid gland. Total thyroidectomy, left parathyroidectomy, and bipolar hemiarthroplasty of the left hip were then performed simultaneously. The resected specimens were pathologically identified as papillary thyroid carcinoma and parathyroid carcinoma, respectively. After the operation, 131I ablation therapy was administered at a dose of 120 mCi. Additional doses of 30 mCi were given yearly as serum thyroglobulin level became elevated. Serum calcium level remained normal during yearly follow-up. Although parathyroid carcinoma is an uncommon cause of parathyroid hormone-dependent hypercalcemia, it should nonetheless be given due consideration because its surgical approach differs from that of parathyroid adenoma. As the coexistence of parathyroid and non-medullary thyroid carcinoma has previously been reported, the possibility of both malignancies must also be considered in the setting of primary hyperparathyroidism with thyroid nodules. If confirmed with preoperative parathyroid scintigraphic and other laboratory studies, an optimal outcome may be achieved with complete resection of both tumors at the time of initial operation, followed by adjunctive therapy.

  20. Prognostic and Bioepidemiologic Implications of Papillary Fibroelastomas.

    Science.gov (United States)

    Tamin, Syahidah S; Maleszewski, Joseph J; Scott, Christopher G; Khan, S K; Edwards, William D; Bruce, Charles J; Oh, Jae K; Pellikka, Patricia A; Klarich, Kyle W

    2015-06-09

    Papillary fibroelastomas (PFE) are benign neoplasms with little available outcome data. This study sought to describe the frequency and clinical course of patients with surgically removed PFE and echocardiographically suspected, but unoperated, PFE. Mayo Clinic pathology and echocardiography databases (January 1, 1995, to December 31, 2010) were queried, resulting in 511 patients: group 1 (n = 185), including patients with surgically removed, histopathologically confirmed PFE; group 1a (n = 94; 51%) with PFE removed at primary surgery; and group 1b (n = 91; 49%) with PFE removal at time of another cardiac surgery. Group 2 (n = 326) patients had echocardiographic evidence of PFE but no cardiac surgery to remove PFE. Group 1 had mean age of 63 ± 14 years (116 women [63%]). During the study period, we identified 112 cardiac myxomas in the pathology database and 142 in the echocardiographic database. Mean age in group 2 was 67 ± 14 years (162 women [50%]). PFE occurred most commonly on cardiac valves (n = 400 [78%]). In group 1, transient ischemic attack or stroke was the presenting symptom in 58 patients (32%). With surgical removal of valvular PFE, the valve was preserved in 92 (98%). Recurrence was documented in 3 patients (1.6%). Follow-up stroke risk in groups 1, 1a, and 1b at 1 year was 2%, 0%, and 4%; at 5 years, 8%, 5%, and 11%, respectively. Cerebrovascular accident risk in group 2 at 1 and 5 years was 6% and 13%. In patients with echocardiographically suspected PFE who do not undergo surgical removal, rates of cerebrovascular accident and mortality are increased. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  1. Autosomal recessive hereditary auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    王秋菊; 顾瑞; 曹菊阳

    2003-01-01

    evidence of peripheral neuropathy at the time of this writing. Conclusions: In this study, patients with feature of non- syndromic hereditary auditory neuropathy were identified in three Chinese families.Pedigree analysis indicates autosomal recessive inheritances in the pedigrees. The observed inheritance and clinical audiologic findings are different from those previously described for non-syndromic low-frequency sensorineural hearing loss. This information should facilitate future molecular candidate genes screening for understanding the mechanism of AN.

  2. Marine-Lenhart syndrome with papillary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    Hulusi Atmaca

    2015-01-01

    Full Text Available Graves′ disease with accompanying functioning nodules is known as Marine-Lenhart syndrome. Autonomously functioning thyroid nodules (AFTNs also within Graves′ thyroid tissue are almost always bening in nature. A 45-year-old man developed hyperthyroidism due to the coexistence of Graves′ disease and AFTN. Total thyroidectomy was performed. The hyperfunctioning nodule with centrally hypoactive foci detected by technetium-99m thyroid scanning was histologically diagnosed as papillary thyroid carcinoma that was 2.5 cm in diameter. We report the presence of papillary thyroid carcinoma within AFTN in patients with Marine-Lenhart syndrome, which has not been reported so far.

  3. Simultaneous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid

    Directory of Open Access Journals (Sweden)

    Gustavo Cancela e Penna

    2017-01-01

    Full Text Available Thyroglossal duct cyst (TDC is a cystic expansion of a remnant of the thyroglossal duct tract. Carcinomas in the TDC are extremely rare and are usually an incidental finding after the Sistrunk procedure. In this report, an unusual case of a 36-year-old woman with concurrent papillary thyroid carcinoma arising in the TDC and on the thyroid gland is presented, followed by a discussion of the controversies surrounding the possible origins of a papillary carcinoma in the TDC, as well as the current management options.

  4. External irradiation in treatment of papillary carcinoma of the thyroid.

    Science.gov (United States)

    Lenio, P T

    1976-03-01

    A retrospective review of thirty patients with papillary carcinoma of the thyroid with metastatic or direct extension of their disease was undertaken. These thirty patients were treated by a standard surgical procedure and postoperative high dose orthoirradiation with an average twenty-one year follow-up period. Results of this treatment are compared with those of eighty similar patients treated by surgery alone. The primary treatment of papillary carcinoma of the thyroid remains surgical but with a consideration that irradiation may be of benefit in certain instances.

  5. [Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].

    Science.gov (United States)

    Stojkovic, T

    2011-12-01

    This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes discovered in 2010 and their underlying phenotypes will be presented.

  6. Secondary chondrosarcoma: Malignant transformation of pre-existing hereditary and non-hereditary cartilaginous lesions

    Directory of Open Access Journals (Sweden)

    Susanna C.S. Vlok

    2014-12-01

    Full Text Available Secondary chondrosarcoma is a malignant hyaline cartilage tumour originating from a cartilaginous precursor, either osteochondroma or enchondroma. We contrast two different cases of biopsy-proven secondary chondrosarcomas resulting from benign, pre-existing cartilaginous lesions – our aim is to contrast and compare these two benign conditions consisting of multiple cartilaginous lesions – one hereditary and the other non-hereditary – and emphasise their potential for malignant transformation.

  7. Next-generation sequence detects ARAP3 as a novel oncogene in papillary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    Wang QX

    2016-11-01

    Full Text Available Qing-Xuan Wang, En-Dong Chen, Ye-Feng Cai, Yi-Li Zhou, Zhou-Ci Zheng, Ying-Hao Wang, Yi-Xiang Jin, Wen-Xu Jin, Xiao-Hua Zhang, Ou-Chen Wang Department of Oncology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China Purpose: Thyroid cancer is the most frequent malignancies of the endocrine system, and it has became the fastest growing type of cancer worldwide. Much still remains unknown about the molecular mechanisms of thyroid cancer. Studies have found that some certain relationship between ARAP3 and human cancer. However, the role of ARAP3 in thyroid cancer has not been well explained. This study aimed to investigate the role of ARAP3 gene in papillary thyroid carcinoma. Methods: Whole exon sequence and whole genome sequence of primary papillary thyroid carcinoma (PTC samples and matched adjacent normal thyroid tissue samples were performed and then bioinformatics analysis was carried out. PTC cell lines (TPC1, BCPAP, and KTC-1 with transfection of small interfering RNA were used to investigate the functions of ARAP3 gene, including cell proliferation assay, colony formation assay, migration assay, and invasion assay. Results: Using next-generation sequence and bioinformatics analysis, we found ARAP3 genes may play an important role in thyroid cancer. Downregulation of ARAP3 significantly suppressed PTC cell lines (TPC1, BCPAP, and KTC-1, cell proliferation, colony formation, migration, and invasion. Conclusion: This study indicated that ARAP3 genes have important biological implications and may act as a potentially drugable target in PTC. Keywords: papillary thyroid carcinoma, next-generation sequence, ARAP3, oncogene

  8. Hereditary spherocytosis: Consequences of delayed diagnosis

    Directory of Open Access Journals (Sweden)

    Sarah C Steward

    2014-08-01

    Full Text Available Objective: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. Study design: Charts of all (N = 30 patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. Results: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care. All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. Conclusions: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.

  9. Gynecologic screening in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, FEM; Mourits, MJE; Kleibeuker, JH; Hollema, H; van der Zee, AGJ

    2003-01-01

    Objective. In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and transvagi

  10. Hereditary periodic fever and reactive amyloidosis.

    NARCIS (Netherlands)

    Hilst, J.C.H. van der; Simon, A.; Drenth, J.P.H.

    2005-01-01

    Hereditary periodic fever syndromes (HPF) are a group of diseases characterised by recurrences of fever and inflammation separated by symptom-free intervals. Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of

  11. Hereditary spherocytosis presenting as indolent leg ulcers

    Directory of Open Access Journals (Sweden)

    Muhammed K

    1997-01-01

    Full Text Available Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent

  12. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic diseas

  13. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is di

  14. Major and minor form of hereditary hyperekplexia

    NARCIS (Netherlands)

    Tijssen, MAJ; Vergouwe, MN; van Dijk, JG; Rees, M; Frants, RR; Brown, P

    2002-01-01

    Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied

  15. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  16. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    % in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain...

  17. Reprogramming development of experimental hereditary hypertension

    NARCIS (Netherlands)

    Koeners, M.P.M.

    2007-01-01

    The aim of the studies described in this thesis was to investigate the development of experimental hereditary hypertension and to persistently ameliorate the development of hypertension due brief interventions during early development (perinatal treatment). We used two different models of experiment

  18. Gene signature of the post-Chernobyl papillary thyroid cancer

    Energy Technology Data Exchange (ETDEWEB)

    Handkiewicz-Junak, Daria; Rusinek, Dagmara; Oczko-Wojciechowska, Malgorzata; Kowalska, Malgorzata; Jarzab, Barbara [Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Gliwice (Poland); Swierniak, Michal [Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Gliwice (Poland); Medical University of Warsaw, Genomic Medicine, Department of General, Transplant and Liver Surgery, Warsaw (Poland); Dom, Genevieve; Maenhaut, Carine; Detours, Vincent [Universite libre de Bruxelles (ULB), Institute of Interdisciplinary Research, Bruxelles (Belgium); Unger, Kristian [Imperial College London Hammersmith Hospital, Human Cancer Studies Group, Division of Surgery and Cancer, London (United Kingdom); Helmholtz-Zentrum, Research Unit Radiation Cytogenetics, Munich (Germany); Bogdanova, Tetiana [Institute of Endocrinology and Metabolism, Kiev (Ukraine); Thomas, Geraldine [Imperial College London Hammersmith Hospital, Human Cancer Studies Group, Division of Surgery and Cancer, London (United Kingdom); Likhtarov, Ilya [Academy of Technological Sciences of Ukraine, Radiation Protection Institute, Kiev (Ukraine); Jaksik, Roman [Silesian University of Technology, Systems Engineering Group, Faculty of Automatic Control, Electronics and Informatics, Gliwice (Poland); Chmielik, Ewa [Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Department of Tumour Pathology, Gliwice (Poland); Jarzab, Michal [Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, IIIrd Department of Radiation Therapy, Gliwice (Poland); Swierniak, Andrzej [Silesian University of Technology, Department of Automatic Control, Gliwice (Poland)

    2016-07-15

    Following the nuclear accidents in Chernobyl and later in Fukushima, the nuclear community has been faced with important issues concerning how to search for and diagnose biological consequences of low-dose internal radiation contamination. Although after the Chernobyl accident an increase in childhood papillary thyroid cancer (PTC) was observed, it is still not clear whether the molecular biology of PTCs associated with low-dose radiation exposure differs from that of sporadic PTC. We investigated tissue samples from 65 children/young adults with PTC using DNA microarray (Affymetrix, Human Genome U133 2.0 Plus) with the aim of identifying molecular differences between radiation-induced (exposed to Chernobyl radiation, ECR) and sporadic PTC. All participants were resident in the same region so that confounding factors related to genetics or environment were minimized. There were small but significant differences in the gene expression profiles between ECR and non-ECR PTC (global test, p < 0.01), with 300 differently expressed probe sets (p < 0.001) corresponding to 239 genes. Multifactorial analysis of variance showed that besides radiation exposure history, the BRAF mutation exhibited independent effects on the PTC expression profile; the histological subset and patient age at diagnosis had negligible effects. Ten genes (PPME1, HDAC11, SOCS7, CIC, THRA, ERBB2, PPP1R9A, HDGF, RAD51AP1, and CDK1) from the 19 investigated with quantitative RT-PCR were confirmed as being associated with radiation exposure in an independent, validation set of samples. Significant, but subtle, differences in gene expression in the post-Chernobyl PTC are associated with previous low-dose radiation exposure. (orig.)

  19. Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report

    Directory of Open Access Journals (Sweden)

    Newman Brian D

    2009-07-01

    Full Text Available Abstract Introduction Multiple distinct tumors arising in a single individual or within members of a family raise the suspicion of a genetic susceptibility disorder. Case presentation We present the case of a 52-year-old Caucasian woman diagnosed with sebaceous gland carcinoma of the eyelid, followed several years later with subsequent diagnoses of breast cancer and papillary carcinoma of the thyroid. Although the patient was also exposed to radiation from a pipe used in the oil field industry, the constellation of neoplasms in this patient suggests the manifestation of a known hereditary susceptibility cancer syndrome. However, testing for the most likely candidates such as Muir-Torre and Cowden syndrome proved negative. Conclusion We propose that our patient's clustering of neoplasms either represents a novel cancer susceptibility disorder, of which sebaceous gland carcinoma is a characteristic feature, or is a variant of the Muir-Torre syndrome.

  20. Primary Papillary Mucinous Adenocarcinoma of the Ureter Mimicking Genitourinary Tuberculosis

    Directory of Open Access Journals (Sweden)

    Hanni Gulwani

    2010-01-01

    Full Text Available Primary adenocarcinomas of the renal pelvis and ureter are rare and account for less than 1% of all malignancies at this site. We report a case of primary papillary mucinous adenocarcinoma of the ureter that clinically mimicked genitourinary tuberculosis. Early diagnosis is important for the better outcome.

  1. Uptake of /sup 131/I by a papillary meningioma

    Energy Technology Data Exchange (ETDEWEB)

    Preisman, R.A. (Rees-Stealy Medical Clinic, San Diego, CA); Halpern, S.E.; Shishido, R.; Waltz, T.; Callipari, F.; Reit, R.

    1977-08-01

    Significant uptake of /sup 131/I commonly occurs in thyroid malignancies, especially if the remaining normal thyroid tissue is removed prior to scanning. We report a case showing marked uptake of /sup 131/I by a papillary meningioma of the thoracic spinal cord. To our knowledge, this radionuclide has not been previously shown to accumulate in a meningioma.

  2. ETS-1 oncoprotein expression is decreased in aggressive papillary ...

    African Journals Online (AJOL)

    E.A. Ibrahim

    2016-10-19

    Oct 19, 2016 ... of the urinary bladder: An immunohistochemical study. E.A. Ibrahim. ∗ ... The value of ETS-1 in papillary transitional cell carcinoma of the urinary bladder. 121 ... Organization 2004 system [14] and staged into: stages 0 and I (early bladder ... according to the percentage of cells with positive nuclear staining;.

  3. Thyroglossal Duct Papillary Thyroid Carcinoma and Synchronous Lingual Thyroid Atypia

    Directory of Open Access Journals (Sweden)

    Timothy Yoo

    2016-01-01

    Full Text Available Thyroglossal duct and lingual thyroid ectopic lesions are exceedingly rare synchronous findings. Papillary thyroid carcinoma of these ectopic thyroid sites is well understood but still a rare finding. This case points to some management nuances in regard to ectopic thyroid screening with imaging and also shows the effectiveness of minimally invasive transoral robotic surgery for lingual thyroid.

  4. Papillary thyroid carcinoma in Denmark 1996-2008

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Krogdahl, Annelise; Bastholt, Lars

    2013-01-01

    A rise in the incidence of thyroid cancer has been reported in several countries, and the increase is only seen in the papillary type. Increased detection due to higher resolution ultrasound and fine needle aspiration has been proposed as the explanation, recent registry studies however question...

  5. Papillary Thyroid Carcinoma in Denmark, 1996-2008

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Krogdahl, Annelise; Bastholt, Lars

    2014-01-01

    BACKGROUND: Regional as well as national series show an increasing incidence of thyroid cancer largely small size papillary thyroid carcinoma (PTC). Prognostic scoring systems have been developed, but these do not take into account the rapidly changing case mix, and adjustments may be required...

  6. Clinical and pathological features of papillary renal cell carcinoma ...

    African Journals Online (AJOL)

    M.M. Gargouri

    2016-08-21

    Aug 21, 2016 ... adults. This type of tumor contains more than 75% of tubulo-papillary structures and is divided histologically ... Clinical data including presenting symptoms, preoperative findings, pathological features .... tula in one, pulmonary embolism in one and wound infection in 3 ... Cytogenetic studies suggest that.

  7. Gene-expression Classifier in Papillary Thyroid Carcinoma

    DEFF Research Database (Denmark)

    Londero, Stefano Christian; Jespersen, Marie Louise; Krogdahl, Annelise;

    2016-01-01

    BACKGROUND: No reliable biomarker for metastatic potential in the risk stratification of papillary thyroid carcinoma exists. We aimed to develop a gene-expression classifier for metastatic potential. MATERIALS AND METHODS: Genome-wide expression analyses were used. Development cohort: freshly...

  8. Papillary Thyroid Carcinoma: Ectopic Malignancy versus Metastatic Disease

    Directory of Open Access Journals (Sweden)

    Yanery’s Agosto-Vargas

    2017-01-01

    Full Text Available Papillary thyroid carcinoma frequently metastasizes to regional lymph nodes. However, cervical lymph node metastasis as a sole manifestation of occult papillary thyroid carcinoma is rarely observed. Ectopic thyroid is an uncommon condition defined as the presence of thyroid tissue at a site other than pretracheal area. Approximately 1–3% of all ectopic thyroid tissue is located in the lateral neck. This entity may represent the only functional thyroid tissue in the body. Malignant transformation of ectopic thyroid is uncommon; but even rarer is the development of papillary carcinoma on it. We present a case of a 33-year-old man with an incidental lateral neck mass diagnosed after a motor vehicle accident. Total thyroidectomy and lymph node resection were completed without evidence of papillary thyroid carcinoma. Malignant transformation of heterotopic thyroid tissue was the final diagnosis. The possibility of an ectopic thyroid cancer should be considered in the differential diagnosis of a pathological mass in the neck. The uniqueness of this case strives in the rarity that the thyroid gland was free of malignancy, despite ectopic tissue being positive for thyroid carcinoma. Management strategies, including performance of total thyroidectomy, neck dissection, and treatment with radioiodine, should be based on individualized risk assessment.

  9. Detection of Trabeculae and Papillary Muscles in Cardiac MR Images

    NARCIS (Netherlands)

    Spreeuwers, Lieuwe Jan; Bangma, S.J.; Meerwaldt, R.J.H.W.; Vonken, E.J.; Breeuwer, M.

    2005-01-01

    With the improvement of the quality of MR imagery, more and more details become visible. Only 5-10 years ago cardiac images of the heart were still so unsharp that finer details of the heart like the papillary muscles and the trabeculae were hardly visible and it was simply impossible to determine

  10. Confocal Endomicroscopy Characteristics of Different Intraductal Papillary Mucinous Neoplasm Subtypes.

    Science.gov (United States)

    Kamboj, Amrit K; Dewitt, John M; Modi, Rohan M; Conwell, Darwin L; Krishna, Somashekar G

    2017-05-01

    Intraductal papillary mucinous neoplasms are classified into gastric, intestinal, pancreatobiliary, and oncocytic subtypes where morphology portends disease prognosis. The study aim was to demonstrate EUS-guided needle-based confocal laser endomicroscopy imaging features of intraductal papillary mucinous neoplasm subtypes. Four subjects, each with a specific intraductal papillary mucinous neoplasm subtype were enrolled. An EUS-guided needle-based confocal laser endomicroscopy miniprobe was utilized for image acquisition. The mean cyst size from the 4 subjects (2 females; mean age = 65.3±12 years) was 36.8±12 mm. All lesions demonstrated mural nodules and focal dilation of the main pancreatic duct. EUS-nCLE demonstrated characteristic finger-like papillae with inner vascular core for all subtypes. The image patterns of the papillae for the gastric, intestinal, and pancreatobiliary subtypes were similar. However, the papillae in the oncocytic subtype were thick and demonstrated a fine scale-like or honeycomb pattern with intraepithelial lumina correlating with histopathology. There was significant overlap in the needle-based confocal laser endomicroscopy findings for the different intraductal papillary mucinous neoplasm subtypes; however, the oncocytic subtype demonstrated distinct patterns. These findings need to be replicated in larger multicenter studies.

  11. Detection of Trabeculae and Papillary Muscles in Cardiac MR Images

    NARCIS (Netherlands)

    Spreeuwers, L.J.; Bangma, S.J.; Meerwaldt, R.J.H.W.; Vonken, E.J.; Breeuwer, M.

    2005-01-01

    With the improvement of the quality of MR imagery, more and more details become visible. Only 5-10 years ago cardiac images of the heart were still so unsharp that finer details of the heart like the papillary muscles and the trabeculae were hardly visible and it was simply impossible to determine t

  12. Metastatic papillary carcinoma of the thyroid in a patient previously ...

    African Journals Online (AJOL)

    The subject of this presentation is a 50-year-old lady who was diagnosed with ... Keywords: Graves' disease, papillary thyroid carcinoma, radioactive iodine ... de la thyroïde chez un patient traité antérieurement pour la maladie de Basedow.

  13. The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase

    OpenAIRE

    Inloes, Jordon M.; Hsu, Ku-Lung; Dix, Melissa M.; Viader, Andreu; Masuda, Kim; Takei, Thais; Wood, Malcolm R.; Cravatt, Benjamin F.

    2014-01-01

    Many rare human genetic disorders are caused by mutations in genes that code for proteins of poorly characterized function. Determining the functions of these proteins is critical for understanding and devising potential treatments for human diseases. In this article, we discover using a combination of mouse genetic models, selective inhibitors, and lipid profiling that the DDHD2 enzyme, mutations of which cause a neurological disease termed complex hereditary spastic paraplegia (HSP), acts a...

  14. Papillary carcinoma of the thyroid gland: Features and associated pathology

    Directory of Open Access Journals (Sweden)

    Vuković Miloš

    2017-01-01

    Full Text Available Introduction: Papillary carcinoma is the most common malignant tumor of the thyroid gland, which is clinically manifested as painless and (impalpable node in the glandular parenchyma. The aim: Analysis of demographic features of the patients with papillary thyroid carcinoma, localization and histomorphology characteristics, as well as associated pathology. Materials and Methods: We analyzed the medical records of 38 patients, to whom pathohistological diagnosis of papillary thyroid carcinoma was given, in the period from January 2011 to December 2015, at the Center for Pathology and Histology, Clinical Center of Vojvodina, Novi Sad. Results: Pathohistologically, 38 papillary carcinoma of the thyroid gland were verified, where 71.05% were females. The average age of patients was 50 years. In our study, the average tumor size was 12.4 mm, while it was some larger in male patients (13.7 mm, compared to female (11.1 mm. Tumor node was more frequent in the right lobe (34.21%. In 34.21% of patients coexistence of the goiter was found, 18.42% had associated Hashimoto's thyroiditis, while 10.52% had associated adenoma of the thyroid gland. Conclusion: Papillary carcinoma is 2.5-3 times more frequent in females, usually in the second half of the 5th decade of life, while the males suffer at some later ages. The largest number of patients belong to stage T1, while the most frequent associated disease is goiter. Thyroidectomy with pathohistological TNM staging is imperative for continued adequate clinical treatment and monitoring of patients.

  15. Genetic Heterogeneity of HER2 Amplification and Telomere Shortening in Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Paola Caria

    2016-10-01

    Full Text Available Extensive research is dedicated to understanding if sporadic and familial papillary thyroid carcinoma are distinct biological entities. We have previously demonstrated that familial papillary thyroid cancer (fPTC cells exhibit short relative telomere length (RTL in both blood and tissues and that these features may be associated with chromosome instability. Here, we investigated the frequency of HER2 (Human Epidermal Growth Factor Receptor 2 amplification, and other recently reported genetic alterations in sporadic PTC (sPTC and fPTC, and assessed correlations with RTL and BRAF mutational status. We analyzed HER2 gene amplification and the integrity of ALK, ETV6, RET, and BRAF genes by fluorescence in situ hybridization in isolated nuclei and paraffin-embedded formalin-fixed sections of 13 fPTC and 18 sPTC patients. We analyzed BRAFV600E mutation and RTL by qRT-PCR. Significant HER2 amplification (p = 0.0076, which was restricted to scattered groups of cells, was found in fPTC samples. HER2 amplification in fPTCs was invariably associated with BRAFV600E mutation. RTL was shorter in fPTCs than sPTCs (p < 0.001. No rearrangements of other tested genes were observed. These findings suggest that the association of HER2 amplification with BRAFV600E mutation and telomere shortening may represent a marker of tumor aggressiveness, and, in refractory thyroid cancer, may warrant exploration as a site for targeted therapy.

  16. Nonconventional papillary thyroid carcinomas with pleomorphic tumor giant cells: a diagnostic pitfall with anaplastic carcinoma.

    Science.gov (United States)

    Hommell-Fontaine, Juliette; Borda, Angela; Ragage, Florence; Berger, Nicole; Decaussin-Petrucci, Myriam

    2010-06-01

    The presence of pleomorphic tumor giant cells in thyroid carcinomas of follicular cell origin is always worrisome for the pathologist as they first of all refer to anaplastic carcinoma, one of the most aggressive human malignancies. However, non-anaplastic pleomorphic giant cells are well described in other thyroid diseases, most often benign. In this paper, we describe four cases of papillary thyroid carcinoma displaying pleomorphic tumor giant cells with features that differ from those of anaplastic carcinoma. Pleomorphic giant cells were admixed with the underlying thyroid carcinoma and constituted from 5% to 25% of the tumor. Cytologically, they had an abundant eosinophilic cytoplasm with large and irregular nuclei. Compared to pleomorphic giant cells of anaplastic carcinoma, they reproduced the growth pattern of the underlying carcinoma, had a low mitotic index without necrosis or inflammation, and were reactive with thyroglobulin and thyroid-specific transcription factor-1 and strongly and diffusely positive for cytokeratin AE1/AE3. After 16-84 months of follow-up, patients are relapse-free and still alive. These cases show that pleomorphic tumor giant cells arising in papillary thyroid carcinomas do not always represent dedifferentiation and progression to anaplastic carcinoma. Distinction among these processes is critical as their treatment and prognosis are very different.

  17. In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

    Science.gov (United States)

    Sherry, Erica B; Lee, Phil; Choi, In-Young

    2015-12-01

    Metabolic disorders, whether hereditary or acquired, affect the brain, and abnormalities of the brain are related to cellular integrity; particularly in regard to neurons and astrocytes as well as interactions between them. Metabolic disturbances lead to alterations in cellular function as well as microscopic and macroscopic structural changes in the brain with diabetes, the most typical example of metabolic disorders, and a number of hereditary metabolic disorders. Alternatively, cellular dysfunction and degeneration of the brain lead to metabolic disturbances in hereditary neurological disorders with neurodegeneration. Nuclear magnetic resonance (NMR) techniques allow us to assess a range of pathophysiological changes of the brain in vivo. For example, magnetic resonance spectroscopy detects alterations in brain metabolism and energetics. Physiological magnetic resonance imaging (MRI) detects accompanying changes in cerebral blood flow related to neurovascular coupling. Diffusion and T1/T2-weighted MRI detect microscopic and macroscopic changes of the brain structure. This review summarizes current NMR findings of functional, physiological and biochemical alterations within a number of hereditary and acquired metabolic disorders in both animal models and humans. The global view of the impact of these metabolic disorders on the brain may be useful in identifying the unique and/or general patterns of abnormalities in the living brain related to the pathophysiology of the diseases, and identifying future fields of inquiry.

  18. Cate's Story: Hereditary Diffuse Gastric Cancer.

    Science.gov (United States)

    Rogers, Megan

    2016-08-01

    Gastric cancer is a major cause of cancer-related mortality worldwide and is thought to be responsible for about 10% of cancer-related deaths across the globe. A small proportion of all gastric cancers arise because of a known hereditary syndrome, the most common of which is hereditary diffuse gastric cancer (HDGC). This is an autosomal dominant genetic disease characterized by an increased risk of developing diffuse gastric cancer at a young age. The gene responsible for HDGC is CDH1, also known as E-cadherin, a germline mutation conferring an 80% risk of developing gastric cancer during the lifetime of the carrier. Females with germline CDH1 mutations face an additional risk of developing lobular breast cancer, with a reported cumulative risk of 60% by the age of 80 years.
.

  19. Hereditary diffuse gastric cancer--An overview.

    Science.gov (United States)

    Gurzu, Simona; Jung, Ioan; Orlowska, Janina; Sugimura, Haruhiko; Kadar, Zoltan; Turdean, Sabin; Bara, Tivadar

    2015-09-01

    The incidence of gastric cancer varies by up to ten fold throughout the world, and the geographic distribution of hereditary cases is not well explored. Familial clustering is seen in 10% of cases, and approximately 3% of all gastric cancers develop due to hereditary diffuse gastric cancer (HDGC). In this review, the characteristics of HDGC are presented according to molecular particularities, geographic distribution, and other parameters. Based on our experience and the data from the literature, we discuss the possibility of applying a mutation signature (spectrum) study and adductomic approaches to a comparative carcinogenesis of HDGC. We also provide a comprehensive, up-to-date review of genetic counseling and criteria for screening and surveillance of eligible families.

  20. Hereditary angioedema type I: a case report.

    Science.gov (United States)

    Muñoz Peralta, Francisca; Buller Vigueira, Eva; Cabello Pulido, Juana

    2016-01-28

    Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the family physician. The present is the case of a male teenager with alpha-1 antitrypsin deficiency since he was six months old, angioedema on arms and legs since 11 years old and diagnosed with hereditary angioedema type I one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur, administration of complement C1 inhibitor.

  1. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...... relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations....

  2. The biochemical basis of hereditary fructose intolerance.

    Science.gov (United States)

    Bouteldja, Nadia; Timson, David J

    2010-04-01

    Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and providing a stronger basis for improved treatment and diagnosis. Such studies have revealed changes in enzyme activity, stability and oligomerisation. However, linking these changes to disease phenotypes has not always been straightforward. This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene.

  3. Distal renal tubular acidosis with hereditary spherocytosis.

    Science.gov (United States)

    Sinha, Rajiv; Agarwal, Indira; Bawazir, Waleed M; Bruce, Lesley J

    2013-07-01

    Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.

  4. Hereditary angioedema:44 years of diagnostic delay

    OpenAIRE

    Peterson, M.P.; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.

  5. Hereditary chin tremor in Parkinson's disease.

    Science.gov (United States)

    Erer, Sevda; Jankovic, Joseph

    2007-11-01

    Hereditary chin tremor (HCT) is characterized by rhythmical, involuntary movements of the chin muscles usually inherited in an autosomal dominant pattern. We describe a 74-year old man with familial, childhood-onset chin tremor, and a 3-year history of progressive hand tremor, gait difficulty, and other parkinsonian features. Since chin tremor often occurs in Parkinson's disease (PD), a coexistent HCT may not be recognized unless past and family history of tremor is carefully explored.

  6. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Institute of Scientific and Technical Information of China (English)

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    Background:Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis,which occurs worldwide.To date,more and more mutations in the TTR gene have been reported.Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family.The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.Methods:Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014.Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients,for light and electron microscopy examination.The TTR genes from the nine patients were analyzed.Results:The onset age varied from 23 to 68 years.The main manifestations were paresthesia,proximal and/or distal weakness,autonomic dysfunction,cardiomyopathy,vitreous opacity,hearing loss,and glossohypertrophia.Nerve biopsy demonstrated severe loss ofmyelinated fibers in seven cases and amyloid deposits in three.One patient had skin amyloid deposits which were revealed from electron microscopic examination.Genetic analysis showed six kinds of mutations of TTR gene,including Val30Met,Phe33Leu,Ala36Pro,Val30Ala,Phe33Val,and Glu42Gly in exon 2.Conclusions:Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients,the screening for TTR mutations should be performed in all the adult patients,who are clinically suspected with hereditary TTR amyloidosis.

  7. Leber hereditary optic neuropathy mimicking neuromyelitis optica.

    Science.gov (United States)

    McClelland, Collin M; Van Stavern, Gregory P; Tselis, Alex C

    2011-09-01

    Leber hereditary optic neuropathy (LHON) is rarely associated with multiple sclerosis-like features. We present a case of a 65-year-old African American woman with LHON masquerading as neuromyelitis optica (NMO). We highlight the features of the clinical examination and MRI that were suggestive of an alternative diagnosis and review the literature regarding LHON and multiple sclerosis. The diagnosis of LHON should be considered in all cases of acute or subacute bilateral optic neuropathy, including presumed seronegative NMO.

  8. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  9. Medical Management of Hereditary Optic Neuropathies

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  10. Medical management of hereditary optic neuropathies.

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.

  11. Invasive papillary carcinoma of the male breast: Report of a rare case and review of the literature

    Directory of Open Access Journals (Sweden)

    Pant Ishita

    2009-01-01

    Full Text Available Breast masses occur in men far less commonly than women. Papillary lesions of the male breast are rare and comprise a spectrum of lesions ranging from benign intraductal papilloma to intraductal papillary carcinoma and invasive papillary carcinoma. In this case report, a 78-year-old man presented with a subareolar painless mass. Fine needle aspiration cytology (FNAC was performed. Cytologic examination revealed a cellular aspirate. A diagnosis of papillary lesion favoring papillary carcinoma was rendered. The patient underwent modified radical mastectomy, which showed invasive papillary carcinoma. As far as we know, only a few cases of invasive papillary carcinoma of the male breast have been published in the literature. To the best of our knowledge, this is the first case report of invasive papillary carcinoma of male breast in Malaysia. In this purview, we discuss papillary carcinoma of male breast with review of the relevant literature.

  12. A case of papillary microcarcinoma of the thyroid with abundant colloid (masquerading as colloid goiter with papillary hyperplasia: Cytological evaluation with histopathological correlation

    Directory of Open Access Journals (Sweden)

    Elancheran Muthalagan

    2015-01-01

    Full Text Available Papillary thyroid carcinoma (PTC is the most common malignant neoplasm of the thyroid. On fine-needle aspiration (FNA cytology smears of conventional PTC, the background usually shows scanty, bubble gum-like colloid. But the macrofollicular variant and papillary microcarcinoma reveals abundant thin colloid in the background. We report a case of papillary carcinoma of thyroid in a 37-year-old female with abundant thin colloid, obscuring the nuclear morphology in many clusters, along with the presence of typical nuclear features within occasional clusters in FNA cytology and hence, masquerading as colloid goiter with papillary hyperplasia. Histopathological examination of the total thyroidectomy specimen revealed papillary microcarcinomatous focus in a background of nodular hyperplasia. The differential diagnosis of PTC should be entertained even in colloid-rich FNA smears if the typical nuclear features are present. Hence, a meticulous search for any fragment with nuclear features of PTC is mandatory before labeling the smears as benign nodular hyperplasia.

  13. Discrepant serum and urine β-hCG results due to production of β-hCG by a cribriform-morular variant of thyroid papillary carcinoma.

    Science.gov (United States)

    Alikhan, Mir; Koshy, Anoopa; Hyjek, Elizabeth; Stenson, Kerstin; Cohen, Ronald N; Yeo, Kiang-Teck J

    2015-01-01

    Although patients with medullary thyroid cancer are known to present with paraneoplastic hormone production, this is much less common with papillary thyroid cancer. We present a patient with the cribriform morular variant of papillary thyroid cancer in association with familial adenomatous polyposis who developed a positive pregnancy test in the absence of known pregnancy. The patient had developed vaginal bleeding, and her laboratory testing was characterized by elevated serum human chorionic gonadotropin (β-hCG) concentrations, but negative qualitative urine results. After a thorough gynecological evaluation to exclude unexpected normal, ectopic, or molar pregnancy, we pursued an evaluation for other sources of β-hCG production. We showed that the elevated serum β-hCG concentrations were not the result of heterophile antibody interferences, and ultimately we proved that her recurrent tumor produced the ectopic β-hCG. This is the first report of β-hCG production by papillary thyroid cancer. Thus, the possibility of ectopic production of β-hCG by papillary thyroid cancer needs to be included in the differential diagnosis of elevated hCG concentration in the absence of pregnancy. This study of an unusual paraneoplastic syndrome highlights the importance of investigating discrepancies in the clinical laboratory. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

    OpenAIRE

    Pedro Giavina-Bianchi; Alfeu T. França; GRUMACH, Anete S.; Abílio A Motta; Fátima R Fernandes; Regis A. Campos; Solange O Valle; Rosário, Nelson A.; Dirceu Sole

    2011-01-01

    Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom t...

  15. Non responsive celiac disease due to coexisting hereditary fructose intolerance.

    Science.gov (United States)

    Bharadia, Lalit; Shivpuri, Deepak

    2012-04-01

    Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose. An association between these two distinct genetic gastrointestinal disorders is important as treatment failure of celiac disease calls for careful evaluation for hereditary fructose intolerance. We report a patient with an association of these two disorders.

  16. Aplastic crisis due to human parvovirus B19 infection in hereditary hemolytic anaemia Crise aplástica devido à infecção por parvovirus humano B19 em anemia hemolítica hereditária

    Directory of Open Access Journals (Sweden)

    R. C. N. Cubel

    1992-10-01

    Full Text Available Specific anti-B19 IgM was demonstrated in sera from three children showing transient aplastic crisis. A two years-old boy living in Rio de Janeiro suffering from sickle-cell anaemia showed the crisis during August, 1990. Two siblings living in Santa Maria, RS, developed aplastic crisis during May, 1991, when they were also diagnosed for hereditary spherocytosis. For a third child from this same family, who first developed aplastic crisis no IgM anti-B19 was detected in her sera.IgM específica anti-B19 foi demonstrada nos soros de três crianças apresentando aplasia transitória de medula. Um menino de dois anos de idade vivendo no Rio de Janeiro e sendo portador de anemia falciforme, apresentou a crise durante Agosto de 1990. Dois irmãos vivendo em Santa Maria - RS, desenvolveram crise de aplasia em Maio de 1991, quando foram também diagnosticados como portadores de microesferocitose. IgM anti-B19 não foi detectada no soro de uma terceira criança, desta mesma família, a qual primeiramente apresentou crise de aplasia.

  17. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis.

    Science.gov (United States)

    Banerji, Aleena; Busse, Paula; Shennak, Mustafa; Lumry, William; Davis-Lorton, Mark; Wedner, Henry J; Jacobs, Joshua; Baker, James; Bernstein, Jonathan A; Lockey, Richard; Li, H Henry; Craig, Timothy; Cicardi, Marco; Riedl, Marc; Al-Ghazawi, Ahmad; Soo, Carolyn; Iarrobino, Ryan; Sexton, Daniel J; TenHoor, Christopher; Kenniston, Jon A; Faucette, Ryan; Still, J Gordon; Kushner, Harvey; Mensah, Robert; Stevens, Chris; Biedenkapp, Joseph C; Chyung, Yung; Adelman, Burt

    2017-02-23

    Background Hereditary angioedema with C1 inhibitor deficiency is characterized by recurrent, unpredictable swelling episodes caused by uncontrolled plasma kallikrein generation and excessive bradykinin release resulting from cleavage of high-molecular-weight kininogen. Lanadelumab (DX-2930) is a new kallikrein inhibitor with the potential for prophylactic treatment of hereditary angioedema with C1 inhibitor deficiency. Methods We conducted a phase 1b, multicenter, double-blind, placebo-controlled, multiple-ascending-dose trial. Patients with hereditary angioedema with C1 inhibitor deficiency were randomly assigned in a 2:1 ratio to receive either lanadelumab (24 patients) or placebo (13 patients), in two administrations 14 days apart. Patients assigned to lanadelumab were enrolled in sequential dose groups: total dose of 30 mg (4 patients), 100 mg (4 patients), 300 mg (5 patients), or 400 mg (11 patients). The pharmacodynamic profile of lanadelumab was assessed by measurement of plasma levels of cleaved high-molecular-weight kininogen, and efficacy was assessed by the rate of attacks of angioedema during a prespecified period (day 8 to day 50) in the 300-mg and 400-mg groups as compared with the placebo group. Results No discontinuations occurred because of adverse events, serious adverse events, or deaths in patients who received lanadelumab. The most common adverse events that emerged during treatment were attacks of angioedema, injection-site pain, and headache. Dose-proportional increases in serum concentrations of lanadelumab were observed; the mean elimination half-life was approximately 2 weeks. Lanadelumab at a dose of 300 mg or 400 mg reduced cleavage of high-molecular-weight kininogen in plasma from patients with hereditary angioedema with C1 inhibitor deficiency to levels approaching that from patients without the disorder. From day 8 to day 50, the 300-mg and 400-mg groups had 100% and 88% fewer attacks, respectively, than the placebo group. All

  18. Ultrasonographic features of metastatic lymph nodes in papillary thyroid microcarinomas and macrocarcinomas

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Young Gyung; Kang, Hee; Joh, Young Doc; Jeong, Kyung Soon; Kim, Beom Su [Dept. of Radiology, Kosin University Gospel Hospital, Busan(Korea, Republic of)

    2015-02-15

    To analyze ultrasonographic (US) features of metastatic lymph nodes (LNs) in papillary thyroid microcarcinomas (PTMC) and in papillary thyroid macrocarcinomas. The study reviewed US findings of 273 patients with pathologically confirmed papillary thyroid carcinoma (PTC) and metastatic LNs based on the US examination. Patients were divided into two groups: PTMC and papillary thyroid macrocarcinomas. The 273 patients with PTC included 87 with PTMC and 186 with papillary thyroid macrocarcinoma. No significant difference of US features in patients with lateral neck node metastasis was found between PTMC (n = 96) and macrocarcinoma (n = 29). In central neck node metastasis, round shape was the most frequent findings in both groups (p < 0.001). There was no significant difference in US features of metastatic LNs between PTMC and papillary thyroid macrocarcinomas. Therefore, careful evaluation of the whole neck should be made.

  19. Papillary and Nonpapillary Calcium Oxalate Monohydrate Renal Calculi: Comparative Study of Etiologic Factors

    Directory of Open Access Journals (Sweden)

    Enrique Pieras

    2006-01-01

    Full Text Available Calcium oxalate monohydrate (COM renal calculi can be classified into two groups: papillary and nonpapillary. In this paper, a comparative study between etiologic factors of COM papillary and nonpapillary calculi is performed. The study included 40 patients with COM renal calculi. The urine of these individuals was analyzed. Case history, lifestyle, and dietetic habits were obtained.No significant differences between urinary biochemical data of both groups were observed; 50% of COM papillary stone formers and 40% of COM nonpapillary stone formers had urolithiasis family history. A low consumption of phytate-rich products was observed for both groups. A relationship between profession with occupational exposure to cytotoxic products and COM papillary renal lithiasis was detected.The results suggest that COM papillary calculi would be associated to papillary epithelium alterations together with a crystallization inhibitors deficit, whereas COM nonpapillary calculi would be associated to the presence of heterogeneous nucleants and a crystallization inhibitors deficit.

  20. High Prevalence of Papillary Thyroid Microcarcinoma in Danish Patients

    DEFF Research Database (Denmark)

    Rossing, Maria; Nygaard, Birte; Bennedbæk, Finn Noe

    2012-01-01

    with a cold thyroid nodule undergoing US-guided FNA were prospectively registered. 408 patients underwent thyroid surgery, resulting in 50 cancers and in addition 37 patients had an incidental finding of papillary thyroid microcarcinomas. Based on the diagnostic FNA, we found sensitivity and specificity...... worldwide, but our results suggest that the most frequent occurring cancer is an incidental papillary thyroid microcarcinoma of which the clinical significance has yet to be established....... for malignancy. Cancer incidence was 13% among females and 9% among males. The accuracy of a diagnostic set-up based on clinical examination, scintigraphy, US, and US-guided FNA was determined with a 48% rate of histopathological validation in the cohort. The overall thyroid cancer incidence has increased...

  1. Solid papillary carcinoma of the breast: A review

    Directory of Open Access Journals (Sweden)

    ZACKARIAH VK CLEMENT

    2017-01-01

    Full Text Available Solid papillary carcinoma of breast is a low-grade tumour originating in the ductal epithelium. It is commonly seen in post-menopausal women and account for <1% of all breast cancers. Patients can be asymptomatic, have nipple discharge or present with abnormal mammographic findings. Despite of some radiological features solid papillary carcinoma cannot be accurately diagnosed on imaging alone. The most important characteristic of this tumour is its behaviour and interesting pathological feature of lack of myoepithelial cells at the periphery. Its diagnosis can be challenging and its management is still debated. Management varies from breast conserving surgery to mastectomy. Currently there is no evidence to support the role of sentinel lymph node biopsy, radiotherapy and hormonal therapy. Therefore, accurate diagnosis with adequate local excision with breast conserving surgery is the optimal treatment.

  2. Papillary carcinoma thyroid with anastomosing channels: An unusual morphology

    Directory of Open Access Journals (Sweden)

    Varsha Dalal

    2017-01-01

    Full Text Available Papillary thyroid carcinoma (PTC is the most common thyroid malignancy, accounting for 70%–80% of all thyroid malignancies. It is biologically indolent and has an excellent prognosis. Variations in histopathologic patterns are known to influence prognosis and often result in a diagnostic dilemma. We report an unusual case of a 35-year-old female with papillary carcinoma of a thyroid isthmus showing anastomosing channels on histopathology, a distinctive pattern that has not been described in PTC. Similar to tumor cells, the lining cells of these channels were also positive for thyroid transcription factor 1, thyroglobulin, and cytokeratin-19 and negative for CD34 and CD31. The diagnosis of PTC should rely on nuclear morphology rather than architecture. Pathologists should be aware of different variants because some of these variants show aggressive behavior and poor outcome. The present report highlights the distinctive pattern of PTC, recognition of which is important to avoid any diagnostic pitfall.

  3. Papillary thyroid carcinoma in three siblings with familial adenomatous polyposis.

    Science.gov (United States)

    Civitelli, S; Tanzini, G; Cetta, F; Petracci, M; Pacchiarotti, M C; Civitelli, B

    1996-01-01

    The authors report three siblings (two sisters and their aunt, aged 20, 22 and 36, respectively) with familial adenomatous polyposis (FAP) and papillary thyroid carcinoma. After diagnosis of FAP, a single, non palpable nodule was revealed in each patient by routine screening ultrasonography of the gland. The diagnosis of papillary carcinoma was made by fine-needle-aspiration biopsy of the nodules and confirmed by histologic examination of surgical specimens. A review of the literature reveals about 40 reports of such an association, that is considered not fortuitous. Nevertheless, in this family the association seems to be a distinctive, clinical feature of the syndrome, affecting three out of five members intensively screened for extracolonic lesions.

  4. Papillary carcinoma of the thyroglossal duct cyst: case report.

    Directory of Open Access Journals (Sweden)

    Nasrollah Maleki

    2015-04-01

    Full Text Available Thyroglossal duct cysts are the most common form of congenital cysts on the neck. The incidence of thyroid papillary carcinoma in thyroglossal duct cyst is less than 1%. In most cases the diagnosis is made postoperatively. We present a 22-year-old female with thyroid papillary carcinoma arising from thyroglossal duct cyst,identified in pathologic study after sistrunk operation.In our case there was neither invasion to adjacent tissue nor lymph node involvement.The patient then underwent total thyroidectomy and bilateral neck dissection. The patient was treated with radioactive iodide and thyroid suppression therapy was given as adjuvant treatment.The patient has been following for two years without any metastasis.

  5. Main-duct intraductal papillary mucinous adenoma of the pancreas

    Directory of Open Access Journals (Sweden)

    Takuma Kensuke

    2011-11-01

    Full Text Available Abstract Background The prevalence of carcinoma in main-duct intraductal papillary mucinous neoplasm (IPMN is high, and surgical resection is recommended for all patients with a main-duct IPMN. Results A main-duct IPMN with typical imagings including protruding lesions in the dilated main pancreatic duct was resected, but the histology was intraductal papillary mucinous adenoma of the pancreas. Discussion It has been reported that the presence of mural nodules and dilatation of MPD are significantly higher in malignant IPMNs. The presented case had protruding lesions in the dilated main pancreatic duct on endoscopic ultrasonography, but the histology was adenoma. Conclusion Preoperative distinction between benign and malignant IPMNs is difficult.

  6. Detection of Trabeculae and Papillary Muscles in Cardiac MR Images

    OpenAIRE

    Spreeuwers, Lieuwe Jan; Bangma, S.J.; Meerwaldt, R.J.H.W.; Vonken, E.J.; Breeuwer, M.

    2005-01-01

    With the improvement of the quality of MR imagery, more and more details become visible. Only 5-10 years ago cardiac images of the heart were still so unsharp that finer details of the heart like the papillary muscles and the trabeculae were hardly visible and it was simply impossible to determine their outlines with any measure of accuracy. With the improved image quality it becomes feasible to extract information about these small structures. Studying the operation of these tiny muscles can...

  7. Primary papillary thyroid carcinoma previously treated incompletely with radiofrequency ablation

    OpenAIRE

    Kim Hoon; Ryu Woo; Woo Sang; Son Gil; Lee Eun; Lee Jae; Bae Jeoung

    2010-01-01

    Radiofrequency ablation (RFA) recently has been applied to benign thyroid nodules, mainly for the cosmetic reasons, and limited cases of local recurrences or focal distant metastases of well-differentiated thyroid cancer, in the high-risk reoperative condition or for the palliative purpose. But no report has been made on the RFA for primary thyroid cancer to date. We report on a patient with primary papillary carcinoma of thyroid gland who had undergone RFA before the cytological diagnosis of...

  8. Cytokeratin 19 immunoreactivity in the diagnosis of papillary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    Debdas Bose

    2012-01-01

    Full Text Available Context: The diagnosis of papillary thyroid carcinoma (PTC is based on nuclear features. These features may be present in focal areas in benign thyroid diseases and follicular adenoma (FA, leading to diagnostic difficulty. Aims: To evaluate the expression and pattern of the distribution of cytokeratin 19 (CK19 in PTC and compare its reactivity with other neoplastic and non-neoplastic conditions to assess its potential as a useful marker for PTC. Materials and Methods: Twenty two cases of papillary carcinoma (usual type, follicular and diffuse sclerosing variant, eight follicular adenomas, eight multinodular goiters (MNG were collected for a period of two years and six months. Sections were taken from thyroidectomy specimens fixed in 10% buffered neutral formalin. Hematoxylin and eosin staining and immunohistochemical staining for CK19 were done using standard protocol. Results were semiquantitatively scored as follows: 1+ (75%, and then analyzed. Statistical Analysis and Results: All 22 (100% papillary carcinomas showed diffuse and strong (3+ and 4+ CK19 expression. Six out of eight (75% FAs and four out of eight (50% MNG were positive for CK19, but it was of weaker intensity (1+ and 2+ and focal in distribution. Conclusion: Focal CK19 staining may be found in benign disease, but diffuse and strong positivity is characteristic of PTC, which can be used in the diagnosis of PTC in lesions of equivocal morphological appearances.

  9. Cellular pleomorphism in papillary tumors of the pineal region

    Science.gov (United States)

    Magalhães, Juliana; Rostad, Steven; Foltz, Greg; Pytel, Peter; Rodriguez, Fausto J.

    2015-01-01

    Papillary tumor of the pineal region (PTPR) is a recently recognized entity. We present the pathologic findings of two cases of PTPR as examples, and discuss the presence of cellular pleomorphism in these tumors. Patient 1 is a 48-year-old man with a pineal region mass. The tumor had unique biphasic patterns, papillary/pseudopapillary areas, and increased mitotic activity. Juxtaposed areas had marked pleomorphism, including nuclear enlargement, smudgy chromatin, nuclear pseudoinclusions, and cytoplasmic vacuolation. Mitoses were absent in these areas. Immunohistochemical staining revealed strong S100 expression. CAM 5.2 and CK18 were strongly positive in a patchy fashion. MIB1 labeling indices were high in classic PTPR regions but very low in pleomorphic areas. Patient 2 was a 35-year-old male with a pineal region tumor characterized by papillary architecture and overall cellular monotony, rare mitoses, and pleomorphism as a more isolated finding, with associated nuclear enlargement and crowding. S100 and CAM 5.2 labeling were present, and MIB1 labeling index was very low throughout the tumor. We discuss the pathologic and phenotypic features of PTPR. Variable pleomorphism may be present, reflected in size variation and nuclear hyperchromasia, but was not accompanied by increased proliferative activity in these cases, suggesting a degenerative phenomenon. PMID:22622671

  10. Cellular pleomorphism in papillary tumors of the pineal region.

    Science.gov (United States)

    Magalhães, Juliana; Rostad, Steven; Foltz, Greg; Pytel, Peter; Rodriguez, Fausto J

    2013-04-01

    Papillary tumor of the pineal region (PTPR) is a recently recognized entity. We present the pathologic findings of two cases of PTPR as examples, and discuss the presence of cellular pleomorphism in these tumors. Patient 1 is a 48-year-old man with a pineal region mass. The tumor had unique biphasic patterns, papillary/pseudopapillary areas, and increased mitotic activity. Juxtaposed areas had marked pleomorphism, including nuclear enlargement, smudgy chromatin, nuclear pseudoinclusions, and cytoplasmic vacuolation. Mitoses were absent in these areas. Immunohistochemical staining revealed strong S100 expression. CAM 5.2 and CK18 were strongly positive in a patchy fashion. MIB1 labeling indices were high in classic PTPR regions but very low in pleomorphic areas. Patient 2 was a 35-year-old male with a pineal region tumor characterized by papillary architecture and overall cellular monotony, rare mitoses, and pleomorphism as a more isolated finding, with associated nuclear enlargement and crowding. S100 and CAM 5.2 labeling were present, and MIB1 labeling index was very low throughout the tumor. We discuss the pathologic and phenotypic features of PTPR. Variable pleomorphism may be present, reflected in size variation and nuclear hyperchromasia, but was not accompanied by increased proliferative activity in these cases, suggesting a degenerative phenomenon.

  11. [A Case of Metachronous Multiple Thyroid Papillary Carcinoma with FAP].

    Science.gov (United States)

    Tajima, Yusuke; Kumamoto, Kensuke; Yamamoto, Azusa; Chika, Noriyasu; Watanabe, Yuichiro; Matsuzawa, Takeaki; Ishibashi, Keiichiro; Mochiki, Erito; Iwama, Takeo; Akagi, Kiwamu; Ishida, Hideyuki

    2015-11-01

    Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, the result of a germ line mutation in the adenomatous polyposis coli (APC) gene. FAP can be associated with various extracolonic lesions, including thyroid cancer, which frequently occurs in women. We report the case of a 36-year-old woman diagnosed as having FAP with multiple metachronous thyroid papillary carcinomas. She underwent left thyroidectomy at the age of 19 years without a diagnosis of FAP. Multiple polyps in her stomach were detected by medical examination and more than 100 polyps in the colon were found by colonoscopy. She was referred to our hospital after a diagnosis of non-profuse FAP. Multiple tumors with a maximum diameter of 10mm were detected in the right lobe of the thyroid gland during the preoperative examination. Papillary carcinoma was suspected based on fine-needle aspiration cytology. We performed a right thyroidectomy after prophylactic colectomy. Pathological findings revealed a cribriform-morula variant of papillary thyroid carcinoma. The patient remains well after 2 year 6 months with no recurrence.

  12. Is familial papillary thyroid microcarcinoma more aggressive than sporadic form?

    Science.gov (United States)

    Lee, Cho Rok; Park, Seulkee; Kang, Sang-Wook; Lee, Jandee; Jeong, Jong Ju; Chung, Woong Youn; Park, Cheong Soo

    2017-01-01

    Purpose With the increasing incidence of papillary thyroid microcarcinoma (PTMC), familial papillary thyroid microcarcinoma (FPTMC) is now recognized more frequently. However, the biological behavior of FPTMC is poorly understood. The aim of this study was to investigate the prevalence of FPTMC and its biological aggressiveness. Methods Between March 2006 and July 2010, 2,414 patients underwent primary surgical therapy for PTMC and 149 (6.2%) were further classified as FPTMC. To determine the biological aggressiveness of FPTMC, we compared the clinicopathological features and prognosis between FPTMC and sporadic PTMC (SPTMC). Results The male-to-female ratio was higher in FPTMC than in sporadic papillary thyroid microcarcinoma (SPTMC: 1:4.5 vs. 1:7.2, P = 0.041). The central lymph node (LN) metastasis rate was significantly higher in FPTMC than in SPTMC (36.2% vs. 24.2%, P = 0.002). The local recurrence rate was also higher in FPTMC than in SPTMC (4.5% vs. 0.6%, P patients to detect local recurrence.

  13. Accessory papillary muscles and papillary muscle hypertrophy are associated with sudden cardiac arrest of unknown cause.

    Science.gov (United States)

    Uhm, Jae-Sun; Youn, Jong-Chan; Lee, Hye-Jeong; Park, Junbeom; Park, Jin-Kyu; Shim, Chi Young; Hong, Geu-Ru; Joung, Boyoung; Pak, Hui-Nam; Lee, Moon-Hyoung

    2015-10-15

    The present study was performed for elucidating the associations between the morphology of the papillary muscles (PMs) and sudden cardiac arrest (SCA). We retrospectively reviewed history, laboratory data, electrocardiography, echocardiography, coronary angiography, and cardiac CT/MRI for 190 patients with SCA. The prevalence of accessory PMs and PM hypertrophy in patients with SCA of unknown cause was compared with that in patients with SCA of known causes and 98 age- and sex-matched patients without SCA. An accessory PM was defined as a PM with origins separated from the anterolateral and posteromedial PMs, or a PM that branched into two or three bellies at the base of the anterolateral or posteromedial PM. PM hypertrophy was defined as at least one of the two PMs having a diameter of ≥1.1cm. In 49 patients (age 49.9±15.9years; 38 men) the cause of SCA was unknown, whereas 141 (age 54.2±16.6years; 121 men) had a known cause. The prevalence of accessory PMs was significantly higher in the unknown-cause group than in the known-cause group (24.5% and 7.8%, respectively; p=0.002) or the no-SCA group (7.1%, p=0.003). The same was true for PM hypertrophy (unknown-cause 12.2%, known-cause 2.1%, p=0.010; no SCA group 1.0%, p=0.006). By logistic regression, accessory PM and PM hypertrophy were independently associated with sudden cardiac arrest of unknown cause. An accessory PM and PM hypertrophy are associated with SCA of unknown cause. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. A single point mutation is the cause of the Greek form of Hereditary Persistence of foetal haemoglobin.

    NARCIS (Netherlands)

    M. Berry (Meera); F.G. Grosveld (Frank); N.O. Dillon (Niall)

    1992-01-01

    textabstractIn normal humans the fetal stage-specific gamma-globin genes are silenced after birth and not expressed in the adult. Exceptions are seen in cases of hereditary persistence of fetal haemoglobin (HPFH). These are clinically important because the elevated levels of gamma-globin can allevia

  15. Management of hereditary angioedema: 2010 Canadian approach

    Directory of Open Access Journals (Sweden)

    Bowen Tom

    2010-07-01

    Full Text Available Abstract C1-inhibitor (C1-INH deficiency is a rare blood disorder resulting in angioedema attacks that are debilitating and may be life-threatening. Prophylaxis and therapy of events has changed since our first Canadian Consensus Conference on the diagnosis, therapy and management of HAE. We have formed the Canadian Hereditary Angioedema Network (CHAEN/Réseau Canadien d'Angioédème Héréditaire (RCAH - http://www.haecanada.com to advance care of patients with this disorder in Canada. We here present a review of management of HAE in Canada.

  16. Skin deposits in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Gudmundsson, G

    1990-01-01

    Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic...... individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker...

  17. The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).

    Science.gov (United States)

    Lewkonia, R M

    1992-08-01

    Hereditary arthroophthalmopathy (Stickler syndrome) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and dysmorphic facial features. A family is described illustrating diverse expressions of Stickler syndrome, including abnormalities not directly attributable to mutation of the type II procollagen gene. A review of the literature demonstrates a range of articular problems, several of which are not specific to Stickler syndrome, and might be encountered in either adult or pediatric rheumatology practice. Stickler syndrome may be underrecognized by rheumatologists, particularly if the significance of nonarticular clinical features or a positive family history are not appreciated.

  18. Platelet Function in Basset Hound Hereditary Thrombopathy.

    Science.gov (United States)

    1986-01-01

    Hematol, 17(4),242-258, 1980. 5. CHARO, I.F., FEINMAN , R.D., DETWILER, T.C. Interrelation of platelet aggregation and secretion. J. Clin. Invest...of dogs affected with Basset Hound Hereditary Thrombopathy. Thromb Au, 3, 61-71, 1985. 4. DETWILER, T.C., CHARO, I.F., AND FEINMAN , R.D. Evidence...glycoproteins. Surv Synth Path Res 1:274, 1983. Charo IF, Feinman RD, and Detwiler TC. Interrelation of platelet aggregation and secretion. J Clin Invest 60

  19. The humanistic burden of hereditary angioedema

    DEFF Research Database (Denmark)

    Caballero, Teresa; Aygören-Pürsün, Emel; Bygum, Anette

    2014-01-01

    and impact of HAE types I and II from the patient perspective. The HAE Burden of Illness Study in Europe was conducted in Spain, Germany, and Denmark to assess the real-world experience of HAE from the patient perspective via a one-time survey, which included items on clinical characteristics and physical......Hereditary angioedema (HAE) is a rare but potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The broad range of consequences of HAE on patients? lives is not well understood. The study objective was to comprehensively characterize the burden of illness...

  20. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

    Full Text Available Hereditary mucoepithelial dysplasia (HMD is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.

  1. Multiple mechanisms for hereditary sideroblastic anemia.

    Science.gov (United States)

    Furuyama, Kazumichi; Sassa, Shigeru

    2002-02-01

    Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.

  2. Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity.

    Science.gov (United States)

    Gait-Carr, Eleanor; Connolly, Daniel J A; King, David

    2017-04-01

    Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

  3. [DNA-based diagnosis of hereditary tumour predisposition

    NARCIS (Netherlands)

    Menko, F.H.; Ligtenberg, M.J.L.; Brouwer, T.; Hahn, D.E.; Ausems, M.G.E.M.

    2007-01-01

    Of all forms of cancer, approximately 5% are caused by factors leading to a strong genetic predisposition. DNA diagnosis is currently used in families with hereditary tumour syndromes, such as familial adenomatous polyposis, hereditary non-polyposis colorectal carcinoma (Lynch syndrome), and heredit

  4. [Hereditary haemochromatosis: novel genes, novel diseases and hepcidin

    NARCIS (Netherlands)

    Bergmans, J.P.; Kemna, E.H.J.M.; Janssen, M.C.; Jacobs, E.M.G.; Stalenhoef, A.F.H.; Marx, J.J.M.; Swinkels, D.W.

    2007-01-01

    Since the discovery of the HFE gene of hereditary haemochromatosis in 1996 several new genetic defects have been identified, enabling explanation of the cause and variety of this disease. To date, at least 5 major types of hereditary haemochromatosis have been recognised. All these genes encode for

  5. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Tørring, P M; Nissen, H;

    2013-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess....

  6. BRCA1/2 associated hereditary breast cancer

    Institute of Scientific and Technical Information of China (English)

    Li-song TENG; Yi ZHENG; Hao-hao WANG

    2008-01-01

    Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes,focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial;further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.

  7. Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency.

    Science.gov (United States)

    Moldovan, Dumitru; Bernstein, Jonathan A; Cicardi, Marco

    2015-01-01

    Hereditary angioedema is a rare genetic condition transmitted as an autosomal dominant trait and characterized most commonly by the production of either inadequate or nonfunctioning C1 esterase inhibitor (C1-INH), a blood protein that regulates proteases in the complement, fibrinolytic and contact systems. Patients with hereditary angioedema suffer from episodic, unpredictable manifestations of edema affecting multiple anatomical locations, including the GI tract, facial tissue, the upper airway, oropharynx, urogenital region and/or the arms and legs. A rational approach to treatment is replacement of C1-INH protein, to normalize the levels of C1-INH activity and halt the progression of the biochemical activation processes underlying the edema formation. Ruconest is a highly purified recombinant human C1-INH. This article will focus on the results of ten clinical studies demonstrating the efficacy and safety of Ruconest(®) (Pharming Group NV, Leiden, the Netherlands), which is now approved for use in Europe, Israel and the USA.

  8. Leber hereditary optic neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Meyerson C

    2015-06-01

    Full Text Available Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA

  9. Epidemiology of non-hereditary angioedema.

    Science.gov (United States)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-09-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C(1) esterase inhibitor protein (functional C(1) INH). The general population sample (44% response rate) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C(1) INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain, were more frequent than previously reported.

  10. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate......% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain......) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C1 INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23...

  11. Molecular genetics of distal hereditary motor neuropathies.

    Science.gov (United States)

    Irobi, Joy; De Jonghe, Peter; Timmerman, Vincent

    2004-10-01

    Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

  12. Molecular genetics of hereditary sensory neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela; Mauko, Barbara; Auer-Grumbach, Piet; Pieber, Thomas R

    2006-01-01

    Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.

  13. HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

    Directory of Open Access Journals (Sweden)

    Jernej Brecelj

    2002-03-01

    Full Text Available Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1phosphate aldolase (aldolase B activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in infants or reduction of fructose and sucrose from the diet and results in improvement in the patient’s clinical status and liver disease.Results. This article presents a patient with hereditary fructose intolerance who was diagnosed 18 years ago on the Department of Pediatric Gastroenterology, Ljubljana Children’s Hospital. At that time oral fructose tolerance test was used to diagnose the disorder. When she was 17 we performed liver biopsy. The enzyme determination showed the absence of aldolase B activity.Conclusions. Only cooperation of different experts enables recognition of rare metabolic disorders which must be prompt to prevent further damage.

  14. N-cadherin is differentially expressed in histological subtypes of papillary renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Ludwig Behnes Carl

    2012-08-01

    Full Text Available Abstract Background Papillary renal cell carcinoma (RCC represents a rare tumor, which is divided, based on histological criteria, into two subtypes. In contrast to type I papillary RCC type II papillary RCC shows a worse prognosis. So far, reliable immunohistochemical markers for the distinction of these subtypes are not available. Methods In the present study the expression of N(neural-, E(epithelial-, P(placental-, und KSP(kidney specific-cadherin was examined in 22 papillary RCC of histological type I and 18 papillary RCC of histological type II (n = 40. Results All papillary RCC type II displayed a membranous expression for N-cadherin, whereas type I did not show any membranous positivity for N-cadherin. E-cadherin exhibited a stronger, but not significant, membranous as well as cytoplasmic expression in type II than in type I papillary RCC. A diagnostic relevant expression of P- and KSP-cadherin could not be demonstrated in both tumor entities. Conclusion Thus N-cadherin represents the first immunhistochemical marker for a clear cut differentiation between papillary RCC type I and type II and could be a target for therapy and diagnostic in the future. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2011556982761733

  15. Ultrasonographic Findings of Papillary Thyroid Cancer with or without Hashimoto's Thyroiditis

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jun Young; Lee, Tae Hyun; Park, Dong Hee [Korea Cancer Center Hospital, Seoul (Korea, Republic of)

    2010-04-15

    This study was designed to compare the ultrasonographic features of papillary thyroid carcinoma with and without Hashimoto's thyroiditis. This retrospective study included 190 patients with papillary thyroid carcinoma which was proven by neck surgery. The difference in the ultrasonographic findings between papillary thyroid carcinoma with Hashimoto's thyroiditis and papillary thyroid carcinoma without Hashimoto's thyroiditis were calculated statistically. Hashimoto's thyroiditis was diagnosed in 61 of 190 patients following neck surgery. The incidence of coexisting papillary thyroid carcinoma with Hashimoto's thyroiditis was significantly higher in women (p=0.0026). In addition, the frequency of macrocalcification in patients with Hashimoto's thyroiditis was also significantly higher (p=0.0009). Conversely,other ultrasonographic findings including the shape, margin, echogenicity and calcifications, for patients with papillary thyroid carcinoma with Hashimoto's thyroiditis and papillary thyroid carcinoma without Hashimoto's thyroiditis, were not statistically significant. We also found that patients with Hashimoto's thyroiditis who showed no calcification on ultrasonography tended not to detect the papillary carcinoma at a higher frequency. On ultrasonography, macrocalcifications occurred more frequently in patients with Hashimoto's thyroiditis than those without Hashimoto's thyroiditis. Malignant thyroid nodules without calcifications in patients with Hashimoto's thyroiditis more often could not be detected. Therefore, it is important carefully examine patients with Hashimoto's thyroiditis

  16. Macrofollicular variant of papillary thyroid carcinoma with extensive lymph node metastases.

    Science.gov (United States)

    Yeo, Min-kyung; Bae, Ja Seong; Oh, Woo Jin; Park, Gyeong Sin; Jung, Chan Kwon

    2014-09-01

    The macrofollicular variant of papillary thyroid carcinoma is a rare subtype of the follicular variant of papillary thyroid carcinoma and is usually characterized by an indolent clinical course. The tumors are prone to be misdiagnosed as benign due to their macrofollicular architecture and bland cytologic features. We report a rare case of the macrofollicular variant of papillary thyroid carcinoma with extensive lymph node metastases. The patient was a 48-year-old female with a right thyroid nodule and multiple enlarged lymph nodes in the right neck. It was not possible to make a definitive diagnosis of malignancy on fine-needle aspiration cytology and intraoperative frozen section. She underwent total thyroidectomy with right modified radical neck dissection. The surgical specimen showed a 2.5 × 1.5 × 10 cm, well-circumscribed macrofollicular variant of papillary thyroid carcinoma in the right lobe and multiple central and right lateral neck lymph node metastases. Molecular testing for BRAF, NRAS, HRAS, and KRAS was all negative. We then reviewed the demographic and clinicopathologic characteristics of 71 patients with the macrofollicular variant of papillary thyroid carcinoma. The cytologic or histopathologic diagnosis of macrofollicular variant of papillary thyroid carcinoma can be difficult. Extensive lymph node metastases caused by the macrofollicular variant of papillary thyroid carcinoma may occur even in the absence of capsular or lymphovascular invasion. This review will help to better understand the nature of the macrofollicular variant of papillary thyroid carcinoma.

  17. Stromal modulation and its role in the diagnosis of papillary patterned thyroid lesions.

    Science.gov (United States)

    Daoud, Sahar Aly; Esmail, Reham Shehab El Nemr; Hareedy, Amal Ahmed; Khalil, Abdullah

    2015-01-01

    The papillary patterned lesion of thyroid may be challenging with many diagnostic pitfalls. Tumor stroma plays an important part in the determination of the tumor phenotype. CD34 is thought to be involved in the modulation of cell adhesion and signal transduction as CD34(+) fibrocytes are potent antigen-presenting cells. Smooth muscle actin (SMA) positivity could be diagnostic for fibroblast activation during tumorigenesis. We aimed to examine the expression of CD34 and alphaSMA in the stroma of papillary thyroid hyperplasia, papillary thyroid carcinoma and papillary tumors of uncertain malignant potential in order to elucidate their possible differential distribution and roles. A total number of 54 cases with papillary thyroid lesions were studied by routine HandE staining, CD34 and ASMA immunostaining. ASMA was not expressed in benign papillary hyperplastic lesions while it was expressed in papillary carcinoma, indicating that tumors have modulated stroma. Although the stroma was not well developed in papillary lesions with equivocal features of uncertain potentiality, CD34 was notable in such cases with higher incidence in malignant cases. So ASMA as well as CD34 could predict neoplastic behavior, pointing to the importance of the stromal role. Differences between groups suggest that the presence of CD34 + stromal cells is an early event in carcinogensis and is associated with neoplasia, however ASMA+ cells are more likely to be associated with malignant behavior and metastatic potential adding additional tools to the light microscopic picture helping in diagnosis of problematic cases with HandE.

  18. Radiological imaging of florid intravascular papillary endothelial hyperplasia in the mandibule: case report and literature review.

    Science.gov (United States)

    Xu, Sheng-Sheng; Li, Dan

    2014-01-01

    Intravascular papillary endothelial hyperplasia was a rare benign vascular proliferative process as a result of papillary proliferation of the endothelial cells within the vessels. To our knowledge, we reported the second case occurring in the madibule, and the first reported in 1984 in the literature. We discussed manifestations of multislice computed tomography and panoramic radiography about the lesion and relevant literature was reviewed.

  19. Current roles of endoscopy in the management of intraductal papillary mucinous neoplasm of the pancreas

    OpenAIRE

    Tanaka, Masao

    2015-01-01

    Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is characterized by intraductal papillary proliferation of mucin‐producing epithelial cells that exhibit various degrees of dysplasia. IPMN is classified into four histological subtypes (gastric, intestinal, pancreatobiliary, and oncocytic) according to its histomorphological and immunohistochemical characteristics. Endoscopic retrograde cholangiopancreatography plays a crucial role in the evaluation of these features of IPMN. End...

  20. Brain metastasis as initial presentation of papillary adenocarcinoma of the lung: case report

    Energy Technology Data Exchange (ETDEWEB)

    Bispo, Irving Gabriel Araujo; Nascimento, Diego Teixeira; Ferreira, Karina Oliveira; Fakhouri, Ricardo; Godinho, Atilano Salvador; Ferrao, Thiago de Oliveira, E-mail: irvingbispo@yahoo.com.br [Universidade Federal de Sergipe (HU-UFS), Aracaju, SE (Brazil). Hospital Universitario

    2013-09-15

    The authors describe the case of a 33-year-old patient with history of seizures alone without any previous symptom, being diagnosed with brain metastases from primary papillary adenocarcinoma of the lung. Emphasis is given to the diagnostic investigation for brain metastasis and prognostic evaluation of papillary adenocarcinoma of the lung, and a brief literature review on such diseases is performed. (author)

  1. Intracystic papillary carcinoma in a male as a rare presentation of breast cancer: a case report and literature review.

    LENUS (Irish Health Repository)

    Romics, Laszlo

    2009-01-01

    The term "intracystic papillary ductal carcinoma in situ" has recently changed and is now more appropriately referred to "intracystic papillary carcinoma". Intracystic papillary carcinoma in men is an extremely rare disease with only a few case presentations published in the literature so far.

  2. Invasive Papillary Carcinoma of the Male Breast Misdiagnosed as Fibroadenoma on FNAB

    Science.gov (United States)

    Katiyar, Richa; Kumar, Sandip; Khanna, Rahul

    2017-01-01

    Male breast cancers constitute less than 1% of all the breast cancers. Papillary carcinoma is a very rare tumour of the male breast. Due to rarity, Fine Needle Aspiration Biopsy (FNAB) findings of papillary carcinoma in male breast are seldom reported. A 55-year-old male presented with a lump in the left breast of two years’ duration. FNAB was reported as fibroadenoma. Histopathological examination of the excised breast lump revealed invasive papillary carcinoma. Immunohistochemistry showed expression of pancytokeratin, oestrogen receptor, and progesterone receptor. Negative immunostaining was seen for HER2, p53, 34βE12, and CD34. Ki-67 proliferative index was 5%. We have discussed cytological findings of invasive papillary carcinoma and its differential diagnoses. Cytopathologists must be aware of cytologic findings of invasive papillary carcinoma of the male breast. PMID:28384872

  3. Peripheral papillary tumor of type-II pneumocytes: a rare neoplasm of undetermined malignant potential.

    Science.gov (United States)

    Dessy, E; Braidotti, P; Del Curto, B; Falleni, M; Coggi, G; Santa Cruz, G; Carai, A; Versace, R; Pietra, G G

    2000-03-01

    Peripheral papillary adenomas of the lung are uncommon neoplasms (only ten cases have been described so far in the English literature) composed predominantly of type-II pneumocytes and generally considered benign. We describe here two additional cases of this lung tumor. In both cases histological examination revealed an encapsulated papillary neoplasm with invasion of the capsule and, in one case, invasion of the adjacent alveoli and visceral pleura too. The proliferative index (Ki67) was less than 2% and the epithelial cells were positive for cytokeratins, surfactant apoproteins (SP), and nuclear thyroid transcription factor-1 (TTF- 1). Ultrastructurally, the epithelial cells showed the characteristic surface microvilli and cytoplasmic lamellar inclusions of type-II cells. Review of the literature has revealed two other cases of peripheral papillary adenoma of type-II pneumocytes with infiltrative features. Thus, we propose replacing the term peripheral papillary adenoma with peripheral papillary tumor of undetermined malignant potential.

  4. Analysis of Recurrence Factor of Postoperative Papillary Thyroid Cancer

    Directory of Open Access Journals (Sweden)

    XING Lan-lan;CHEN Song;LI Ya-ming

    2014-02-01

    Full Text Available To investigate the factors that influences the recurrence of papillary thyroid cancer,69 patients with papillary thyroid cancer since January 1, 2011 to march 30, 2013 were analyzed respectively. They meet the inclusion criteria and complete clinical data, 18 males and 51 females,average age: 40.17±12.97.Thyroid ultrasonography, thyroid function test, thyroglobulin and antibody measurement were performed on all patients and thyroid function were checked three or more times on the premise of continuously levothyroxine. Single factor analysis were performed using SPSS17.0 in these respects including patients' gender, age, tumor size, type of opetation, the inhibition degree of TSH with taking levothyroxine postoperative and whether to perform 131I thyroid remnant ablation. Binary Logistic regression analysis were used for studying recurrence factors in multivariate analysis. The ROC curve were drawn, and then determine the threshold of TSH to evaluate tumor recurrence using Youden index method. Unvaried analysis showed that there was no statistically significance between papillary thyroid cancer recurrence and patients' age, surgical approach (P =0.373, P = 0.226,but were related to patient's gender, tumor size, postoperative TSH suppression degree and the removal of residual thyroid tissue postoperative(P= 0.031, P = 0.004, P = 0.000 01, P = 0.000 05. Males, large tumors, high postoperative TSH values and patients who didn't remove the residual thyroid tissue after surgery had higher recurrence rate. Logistic regression analysis showed that tumor size, postoperative TSH suppression degree and whether to remove the residual thyroid tissue were the influencing factors of tumor recurrence. The postoperative TSH supressive degree evaluation of critical point of tumor recurrence was determined by 0.223 5 mU/L using the Yueden index method. Large tumors, high postoperative TSH values,and no removal of the residual thyroid tissue had more influence

  5. Prognostic variables of papillary thyroid carcinomas with local invasion

    Energy Technology Data Exchange (ETDEWEB)

    Lin, Jen-Der; Chao, Tzu-Chieh; Weng, Hsiao-Fen; Ho, Yat-Sen [Chang Gung Memorial Hospital, Taoyuan Hsien (Taiwan, Province of China)

    1999-02-01

    To evaluate the significance of the extrathyroid extension (ETE) of papillary thyroid carcinoma at the time of diagnosis and the prognostic variables of patients, we retrospectively reviewed 1,013 thyroid cancer patients. Of the 741 papillary thyroid cancer patients, 466 (62.9%) were categorized in clinical stage I and 114 (15.4%) were categorized in clinical stage III. Of the 114 patients in clinical stage III, 81 were female (mean age 44.4{+-}15.7 years) and 33 were male (mean age 46.9{+-}18.1 years). Of the clinical stage III patients, 104 patients received post-operative radioactive iodide ({sup 131}I) therapy while 22 patients received external radiotherapy in the neck and upper mediastinum area post-operatively. In the study, age, gender, {sup 131}I accumulated dose, post-operative serum thyroglobulin (Tg) levels, and survival rate were demonstrated to be statistically significant in the groups with no recurrence and recurrence after treatment. The average follow-up period of these patients was 6.0 years. During this follow-up period, 11 patients expired. Eight died of thyroid cancer (7.0%) and 3 died of intercurrent diseases including asthma, renal cell carcinoma and propranolol overdose. Four of the 8 patients (50%) died of airway obstruction due to cancer cell invasion. Another 4 died of distant metastases, including 2 patients with skull metastases and brain invasion. The 5- and 10-year survival rates were 0.981 and 0.956 in clinical stage I and 0.923 and 0.843 in clinical stage III, respectively. In conclusion, the survival rate of the ETE of papillary thyroid cancer was lower when compared with stage I, especially in older male patients with higher post-operative serum Tg levels. (author)

  6. Papillary thyroid microcarcinoma in a thyroid pyramidal lobe

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Tae Kwan; Kim, Dong Wook; Park, Ha Kyoung; Jung, Soo Jin [Busan Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2014-12-15

    We report an extremely rare case of papillary thyroid microcarcinoma (PTMC) in the thyroid pyramidal lobe (TPL). A 48-year-old woman underwent ultrasound-guided fine-needle aspiration for a small thyroid nodule in the right lobe in local clinic, and it revealed a malignant cytology. On preoperative ultrasonography for tumor staging in our hospital, another small suspiciously malignant hypoechoic nodule was detected in the left TPL. Total thyroidectomy and central nodal dissection were performed. Histopathology confirmed PTMCs in the left TPL and both thyroid lobes. Ultrasonography for TPL should be required for complete evaluation of possible multifocality of thyroid malignancy.

  7. A rare case of ovarian papillary adenocarcinoma in a bitch

    Directory of Open Access Journals (Sweden)

    Ashwani Kumar Singh

    2016-07-01

    Full Text Available In the present case report, bilateral ovarian tumour (papillary adenocarcinoma in a 4.5-year-old Saint Bernard bitch and its surgical management is described. Ovariohysterectomy was done and the surgically removed ovarian masses were prepared for histopathological studies. The tumour was associated with pyometra. Macroscopic and histopathological examination confirmed ovarian tumour. Grossly, the tumour consisted of pedunculated processes. The endometrium showed multifocal squamous metaplasia. The findings are discussed as possible consequences of the functioning ovarian tumour and pyometra.

  8. [Intraductal papillary mucinous tumor: diagnostic and therapeutic approach].

    Science.gov (United States)

    Seijo Ríos, Susana; Lariño Noia, José; Iglesias García, Julio; Lozano León, Antonio; Domínguez Muñoz, Juan Enrique

    2008-02-01

    Primary cystic pancreatic neoplasms are rare tumors, with an approximate prevalence of 10% of cystic pancreatic lesions. Most of these lesions correspond to mucinous cystic neoplasm, serous cystoadenoma and intraductal papillary mucinous tumor (IPMT). IPMT is characterized by diffuse dilatation of the main pancreatic duct and/or side branches with inner defects related to mucin or tumor, or mucin extrusion from a patent ampulla. IPMT has a low potential for malignancy, with a low growth rate, a low rate of metastatic spread and postsurgical recurrence. Over the last few years, major advances have been made in the diagnostic and therapeutic management of this tumor.

  9. Papillary muscle approximation to septum for functional tricuspid regurgitation.

    Science.gov (United States)

    Lohchab, Shamsher Singh; Chahal, Ashok Kumar; Agrawal, Nilesh

    2015-07-01

    Current techniques for repair of functional tricuspid regurgitation are associated with a significant degree of residual or recurrent regurgitation. We describe a technique of anterior papillary muscle attachment to the septum to correct residual tricuspid regurgitation persisting after annuloplasty. In our early experience in 15 patients (6 men and 9 women) with a mean age of 32 ± 11 years, who underwent annuloplasty for severe functional tricuspid regurgitation secondary to rheumatic mitral valve disease, this technique effectively eliminated residual tricuspid regurgitation.

  10. [Intraductal papillary mucinous neoplasm of the pancreas, IPMN].

    Science.gov (United States)

    Sirén, Jukka

    2013-01-01

    With the development and increasing use of imaging techniques, intraductal papillary mucinous neoplasm (IPMN) is being detected with increasing frequency. Two forms of the disease are distinguished, the rare main duct form and the common accessory pancreatic duct form. The former often progresses to malignancy, the latter only seldom. The mixed form of IPMN exhibits features of both forms. In main duct IPMN, mucin production obstructs the pancreatic duct causing its dilatation and often symptoms typical of chronic pancreatitis. Main duct IPMN is always an indication for surgery, whereas monitoring is often sufficient for side duct IPMN.

  11. Nonsurgical management of a tricuspid valvular pedunculated papillary fibroelastoma

    Directory of Open Access Journals (Sweden)

    Yang Tae-Hyun

    2009-09-01

    Full Text Available Abstract A 25-year-old woman with a history of kidney transplantation for lupus nephritis was referred for the evaluation and management of a mass incidentally found on echocardiography. An oval and pedunculated mass attached to the tricuspid valve was managed with nonsurgical treatment. No symptoms and complications attributable to the mass developed. Three years later, the size of the mass decreased. Here we report the case of a probable cardiac papillary fibroelastoma (PFE, a mobile mass, with a stalk on the septal leaflet of the tricuspid valve that was managed for three years without surgical treatment.

  12. Multimodality Imaging of a Giant Aortic Valve Papillary Fibroelastoma

    Directory of Open Access Journals (Sweden)

    Nowell M. Fine

    2013-01-01

    Full Text Available Papillary fibroelastomas (PFEs are benign cardiac tumors arising from endocardium. They are commonly found on valvular surfaces and average 1.0–1.5 cm in size. Though often asymptomatic, PFEs can lead to potentially severe complications, primarily due to their embolic potential. Surgical resection is recommended for all symptomatic or large PFEs. We report the case of a patient presenting with cardiovascular symptoms who was found to have a very large aortic valve PFE, as diagnosed by histopathologic examination following surgical resection. Multimodality cardiovascular imaging demonstrates the classic morphologic findings, including a pedunculated appearance and oscillating “frond-like” surface projections.

  13. HABP2 G534E Variant in Papillary Thyroid Carcinoma

    OpenAIRE

    Jerneja Tomsic; Rebecca Fultz; Sandya Liyanarachchi; Huiling He; Leigha Senter; Albert de la Chapelle

    2016-01-01

    The main nonmedullary form of thyroid cancer is papillary thyroid carcinoma (PTC) that accounts for 80-90% of all thyroid malignancies. Only 3-10% of PTC patients have a positive family history of PTC yet the familiality is one of the highest of all cancers as measured by case control studies. A handful of genes have been implicated accounting for a small fraction of this genetic predisposition. It was therefore of considerable interest that a mutation in the HABP2 gene was recently implicate...

  14. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

    Science.gov (United States)

    Giavina-Bianchi, Pedro; França, Alfeu T; Grumach, Anete S; Motta, Abílio A; Fernandes, Fátima R; Campos, Regis A; Valle, Solange O; Rosário, Nelson A; Sole, Dirceu

    2011-01-01

    Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  15. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Pedro Giavina-Bianchi

    2011-01-01

    Full Text Available Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  16. Hereditary red cell membrane disorders and laboratory diagnostic testing.

    Science.gov (United States)

    King, M-J; Zanella, A

    2013-06-01

    This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in the red cell membrane. The current laboratory screening tests for HS are the osmotic fragility test, acid glycerol lysis time test (AGLT), cryohemolysis test, and eosin-5'-maleimide (EMA)-binding test. For atypical HS, SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is carried out to confirm the diagnosis. The diagnosis of HE/HPP is based on abnormal red cell morphology and the detection of protein 4.1R deficiency or spectrin variants using gel electrophoresis. None of screening tests can detect all HS cases. Some testing centers (a survey of 25 laboratories) use a combination of tests (e.g., AGLT and EMA). No specific screening test for hereditary stomatocytoses is available. The preliminary diagnosis is based on presenting a compensated hemolytic anemia, macrocytosis, and a temperature or time dependent pseudohyperkalemia in some patients. Both the EMA-binding test and the osmotic fragility test may help in differential diagnosis of HS and hereditary stomatocytosis.

  17. Monoclonal gammopathy in hereditary spherocytosis: Possible pathogenetic relation

    Energy Technology Data Exchange (ETDEWEB)

    Schafer, A.I. (Univ. of Chicago); Miller, J.B.; Lester, E.P.; Bowers, T.K.; Jacob, H.S.

    1978-01-01

    Two cases of monoclonal gammopathy in patients with hereditary spherocytosis led us to consider the possible pathogenetic relation between these two disorders. Twelve adult patients with hereditary spherocytosis had significant hypergammaglobulinemia in comparison to normal subjects. Retrospective analysis of previous illness in 140 patients with multiple myeloma showed a significant association between IgA myeloma and previous gallbladder disease. We propose that the chronic reticuloendothelial stimulation due to extravascular hemolysis, possibly potentiated by the inflammation associated with cholelithiasis and cholecystitis, may foster neoplastic transformation of immunocytes in patients with hereditary spherocytosis, ultimately leading to the development of monoclonal gammopathy.

  18. Diagnosis and Management of Hereditary Renal Cell Cancer.

    Science.gov (United States)

    Menko, Fred H; Maher, Eamonn R

    2016-01-01

    Renal cell cancer (RCC) is the common denominator for a heterogeneous group of diseases. The subclassification of these tumours is based on histological type and molecular pathogenesis. Insight into molecular pathogenesis has led to the development of targeted systemic therapies. Genetic susceptibility is the principal cause of RCC in about 2-4% of cases. Hereditary RCC is the umbrella term for about a dozen different conditions, the most frequent of which is von Hippel-Lindau disease . Here, we describe the main hereditary RCC syndromes, consider criteria for referral of RCC patients for clinical genetic assessment and discuss management options for patients with hereditary RCC and their at-risk relatives.

  19. Hereditary optic neuropathies share a common mitochondrial coupling defect.

    Science.gov (United States)

    Chevrollier, Arnaud; Guillet, Virginie; Loiseau, Dominique; Gueguen, Naïg; de Crescenzo, Marie-Anne Pou; Verny, Christophe; Ferre, Marc; Dollfus, Hélène; Odent, Sylvie; Milea, Dan; Goizet, Cyril; Amati-Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal

    2008-06-01

    Hereditary optic neuropathies are heterogeneous diseases characterized by the degeneration of retinal ganglion cells leading to optic nerve atrophy and impairment of central vision. We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes. Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype.

  20. Patterns of YAP gene expression in papillary thyroid cancer and its oncological significance%YAP基因在甲状腺乳头状癌中的表达及意义

    Institute of Scientific and Technical Information of China (English)

    权明明; 王依满; 梁勇; 杨晶金; 金晓燕; 杨林军; 周健

    2012-01-01

    Objective:To study the YAP expressive characteristics and biological significance in human papillary thyroid carcinoma. Methods: The YAP mRNA and protein expression in human thyroid papillary carcinoma tissues were detected with QRT - PCR, Immuno - histochemistry SP and Western - blotting. Results; QRT - PCR showed the expression of YAP mRNA was significantly lower in papillary thyroid carcinoma than the control group, Immuno - histochemistry result showed that YAP protein had lower expression in thyroid papillary carcinoma, Western - blotting prompted YAP had low expression in papillary thyroid carcinoma. YAP gene and its protein expression between papillary thyroid cancer group and control group had statistically significant difference ( P < 0. 05 ). Conclusion: In papillary thyroid carcinoma both YAP mRNA and protein expression had low expression level, which indicated that YAP gene had and-cancer effect in incidence and development of papillary thyroid carcinoma.%目的:探讨YAP基因在甲状腺乳头状癌中的表达及其生物学意义.方法:应用QRT-PCR、免疫组织化学SP法、Western-blotting,分别检测人甲状腺乳头状癌组织标本中YAP基因和蛋白的表达情况.结果:QRT PCR检测显示甲状腺乳头状癌组织中YAP mRNA的表达明显低于对照组;免疫组织化学结果显示YAP在甲状腺乳头状癌中低表达;Western-blotting提示YAP在甲状腺乳头状癌组织中的表达较对照组明显降低.YAP mRNA及蛋白的表达在甲状腺乳头状癌和对照组之间有统计学差异(P<0.05).结论:在甲状腺乳头状癌组织中,YAP在mRNA和蛋白水平均低表达,提示YAP基因在甲状腺乳头状癌的发生发展中起抑癌作用.

  1. Prevalence of pulmonary hypertension in hereditary spherocytosis.

    Science.gov (United States)

    Crary, Shelley E; Ramaciotti, Claudio; Buchanan, George R

    2011-12-01

    Vascular complications, including pulmonary hypertension (PH), have been reported to occur following splenectomy for various disorders,including hereditary spherocytosis (HS). We performed a prospective cross-sectional study of 36 adults with HS (78% with prior splenectomy)utilizing echocardiography to estimate tricuspid regurgitant jet velocity (TRV) as well as measurement of N-terminal pro-B-type natriuretic peptide (NT-proBNP) to screen for PH. No participant with HS hada significantly elevated TRV or NT-proBNP level, despite a median 25-year interval since splenectomy (95% confidence interval for point prevalence 0, 0.097). Although our study was limited by a small sample size, it appears that persons with HS, following splenectomy, appear unlikely to be at significantly increased risk of developing PH to the degree reported for thalassemia and sickle cell disease

  2. Hereditary gingival fibromatosis with distinctive facies.

    Science.gov (United States)

    Prasad, Sunkara Shree Ramalinga; Radharani, Chitturi; Sinha, Soumya; Kumar, Sv Kiran

    2012-11-01

    Hereditary gingival enlargement also known as gingivitis or familial elephantiasis is a rare type of gingival enlargement. It appears as an isolated autosomal dominant disorder or maybe associated with other conditions. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized enlargement inhibiting eruption of the teeth. This paper discusses the case of a 13-year-old female patient with distinctive facial characteristics who presented to the department with a chief complaint of swollen gums since 1 year. She had severe diffuse gingival enlargement of the maxilla and mandible. Diagnosis was made based upon clinical examination and family history. Quadrant wise internal bevel gingivectomy procedure was done for the patient to restore her functional and esthetic needs.

  3. Hereditary palmoplantar keratodermas in South India.

    Science.gov (United States)

    Gulati, S; Thappa, D M; Garg, B R

    1997-12-01

    Thirty-one patients with inherited palmoplantar keratodermas (PPKs) were screened from 59,490 cases who visiting the OPD of JIPMER, Pondicherry. The prevalence rate was 5.2 per 10,000 population (1:2000 approx.). PPKs were more common in males (25 patients) than females (6 patients); the overall male to female ratio was 4.2:1. The incidence was highest in the group from 0-10 years of life (67.7% of cases). Unna-Thost syndrome topped the list with 38.7% of cases and its prevalence 1:6000 (approx.), followed by Greither's disease (22.9%) and others-Vohwinkel (3 cases), idiopathic punctate (2 cases), ichthyosis vulgaris associated PPK (2 cases) etc. This study has for the first time reported the prevalence and patterns of hereditary PPKs in South India.

  4. [Progress with management of hereditary angioedema].

    Science.gov (United States)

    Johnston, D T; Lode, H

    2013-03-21

    Hereditary angioedema (HAE) is a rare type of angioedema caused by a quantitative or functional deficit of C1 inhibitor (C1 INH) that leads to excess production of bradykinin, which can result in acute localized swelling attacks in the skin or mucous membranes of the mouth, head and neck, extremities, gastrointestinal (GI) tract, genitals, trunk, and larynx. Angioedema in the respiratorytract maycause airway obstruction; severe abdominal pain, vomiting, or diarrhea may occur in the GI tract. Patients with HAE may be diagnosed and managed by HAE specialists or by primary care physicians depending on individual circumstances. Proper treatment requires differentiation from other forms of angioedema. Patients with HAE who are managed appropriately with medications that treat and prevent atttacks may have a lower risk of death from laryngeal edema and a better quality of life. Less frequent attacks may allow them to attend work, school, and leisure activities more regularlyand be free of the pain and disfigurement of HAE attacks moreoften.

  5. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    Nineteen cases with verified Hereditary Cystatin C Amyloid Angiopathy are presented. All of the cases had one or more cerebrovascular insults starting at the age of 20-41 years and survived from 10 days to 23 years after the first insult. Progressive dementia was a prominent clinical feature...... in seventeen cases of whom two presented with dementia. At the last examination the majority had severe dementia and severely abnormal EEG. Anti-cystatin C positive amyloid vascular and perivascular infiltrates were found. The resulting damage to the microvasculature of the brain and secondary hemorrhages...... and infarctions were considered to be an adequate explanation for the dementia in these cases. Skin biopsies can now probably be used to demonstrate cystatin C positive amyloid deposits conclusively in the tissues of these patients....

  6. Occurrence of hereditary bullous epidermolyses in Croatia.

    Science.gov (United States)

    Pavicić, Z; Kmet-Vizintin, P; Kansky, A; Dobrić, I

    1990-06-01

    To determine the occurrence of hereditary bullous epidermolyses (EB) in Croatia, Yugoslavia, from 1960 to 1987, cases were gathered from the hospital files of dermatologic and pediatric clinics and departments throughout the area. The diagnosis of EB type was made on the basis of clinical features, patients' histories, and light microscopy and electron microscopy findings. Fifty families with 58 patients were registered; 44 patients were examined personally by one of the authors. The most frequent type of EB in Croatia was recessive dystrophic EB Hallopeau-Siemens, occurring in 35 of the 58 individuals. Regional accumulation of cases within the Varazdin area was noted (13 patients). Prevalence of EB in Croatia is 0.956 cases per 100,000 inhabitants. One case of recessive dystrophic EB Hallopeau-Siemens occurred in about every 52,000 live births.

  7. [Research progress of Leber hereditary optic neuropathy].

    Science.gov (United States)

    Zhang, A-Mei; Yao, Yong-Gang

    2013-02-01

    Leber hereditary optic neuropathy (LHON; MIM 535000) is one of the most common mitochondrial diseases, with a clinical manifestation of painless, acute or sub-acute bilateral visual loss in young adults leading to blindness and central scotoma. Over 95% of LHON patients were caused by one of three primary mtDNA mutations (m.11778G>A, m.3460G>A and m.14484T>C). Incomplete penetrance and gender bias are two riddles of this disease. Here we summarized recent research progress of LHON, with a focus on the molecular pathogenic mechanisms, clinical features, in vitro experiments and animal models, and prevention and treatment of LHON. In particular, we presented the main findings and challenges in our recent efforts to decipher genetic susceptibility and mechanism of LHON in Chinese patients.

  8. Idebenone for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Gueven, N

    2016-03-01

    Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data.

  9. Skin deposits in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Gudmundsson, G

    1990-01-01

    Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic...... individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker....... Skin from 12 individuals who served as controls and skin from 14 close relatives of the patients was negative for amyloid. Punch biopsy of the skin is a simple procedure which is of value for the diagnosis of HCCA, even before the appearance of clinical symptoms. This method might also be of use...

  10. Pulmonary hypertension in hereditary haemorrhagic telangiectasia

    Institute of Scientific and Technical Information of China (English)

    Veronique; MM; Vorselaars; Sebastiaan; Velthuis; Repke; J; Snijder; Jan; Albert; Vos; Johannes; J; Mager; Martijn; C; Post

    2015-01-01

    Hereditary haemorrhagic telangiectasia(HHT) is an autosomal dominant inherited disorder characterised by vascular malformations in predominantly the brain,liverand lungs.Pulmonary hypertension(PH) is increasingly recognised as a severe complication of HHT.PH may be categorised into two distinct types in patients with HHT.Post-capillary PH most often results from a high pulmonary blood flow that accompanies the high cardiac output state associated with liver arteriovenous malformations.Less frequently,the HHT-related gene mutations in ENG or ACVRL1 appear to predispose patients with HHT to develop pre-capillary pulmonary arterial hypertension.Differentiation between both forms of PH by right heart catheterisation is essential,since both entities are associated with severe morbidity and mortality with different treatment options.Therefore all HHT patients should be referred to an HHT centre.

  11. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    Nineteen cases with verified Hereditary Cystatin C Amyloid Angiopathy are presented. All of the cases had one or more cerebrovascular insults starting at the age of 20-41 years and survived from 10 days to 23 years after the first insult. Progressive dementia was a prominent clinical feature...... in seventeen cases of whom two presented with dementia. At the last examination the majority had severe dementia and severely abnormal EEG. Anti-cystatin C positive amyloid vascular and perivascular infiltrates were found. The resulting damage to the microvasculature of the brain and secondary hemorrhages...... and infarctions were considered to be an adequate explanation for the dementia in these cases. Skin biopsies can now probably be used to demonstrate cystatin C positive amyloid deposits conclusively in the tissues of these patients....

  12. [Hereditary spastic paraplegia: up to date].

    Science.gov (United States)

    Takiyama, Yoshihisa

    2014-01-01

    Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP.

  13. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8.

  14. The Pathology of Hereditary Breast Cancer

    Directory of Open Access Journals (Sweden)

    Honrado Emiliano

    2004-07-01

    Full Text Available Abstract Several studies have demonstrated that familial breast cancers associated with BRCA1 or BRCA2 germline mutations differ in their morphological and immunohistochemical characteristics. Cancers associated with BRCA1 are poorly differentiated infiltrating ductal carcinomas (IDCs with higher mitotic counts and pleomorphism and less tubule formation than sporadic tumours. In addition, more cases with the morphological features of typical or atypical medullary carcinoma are seen in these patients. Breast carcinomas from BRCA2 mutation carriers tend to be of higher grade than sporadic age-matched controls. Regarding immunophenotypic features. BRCA1 tumours have been found to be more frequently oestrogen receptor- (ER and progesterone receptor-(PR negative, and p53-positive than age-matched controls, whereas these differences are not usually found in BRCA2-associated tumours. A higher frequency and unusual location of p53 mutations have been described in BRCA1/2 carcinomas. Furthermore, BRCA1- and BRCA2-associated breast carcinomas show a low frequency of HER-2 expression. Recent studies have shown that most BRCA1 carcinomas belong to the basal cell phenotype, a subtype of high grade, highly proliferating ER/HER2-negative breast carcinoma characterized by the expression of basal or myoepithelial markers, such as basal keratins, P-cadherin, EGFR, etc. This phenotype occurs with a higher incidence in BRCA1 tumours than in sporadic carcinomas and is rarely found in BRCA2 carcinomas. Hereditary carcinomas not attributable to BRCA1/2 mutations have phenotypic similarities with BRCA2 tumours, but tend to be of lesser grade and lower proliferation index. The pathological features of hereditary breast cancer can drive specific treatment and influence the process of mutation screening.

  15. Chaperonopathies: spotlight on hereditary motor neuropathies

    Directory of Open Access Journals (Sweden)

    Vincenzo Lupo

    2016-12-01

    Full Text Available Distal hereditary motor neuropathies (dHMN comprise a group of rare hereditary neuromuscular disorders characterized by a peroneal muscular atrophy without sensory symptoms. To date twenty-three genes for dHMN have been reported and four of them encode for chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family, and HSPB1, HSPB3 and HSPB8, which encode three members of the family of small heat shock proteins. Except for HSPB1, with around thirty different mutations, the remaining three genes comprise a much low number of cases. Thus, only one case has been described caused by an HSPB3 mutation, whereas few DNAJB2 and HSPB8 cases are known, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the hot spot K141 residue of the HSPB8 chaperone. This low number of cases makes it difficult to understand the pathomechanism underlying the neuropathy. Chaperones can assemble in multi-chaperone complexes forming an integrative chaperone network in the cell, which plays relevant cellular roles in a variety of processes such as the correct folding of newly synthesized proteins, their escort to their precise cellular locations to form functional proteins and complexes and the response to protein misfolding, including the degradation of proteins that fail to refold properly. Despite of this variety of functions, mutations in some of them lead to diseases with a similar clinical picture, suggesting common pathways. This review gives an overview of the genetics of dHMNs caused by mutations in four genes, DNAJB2, HSPB1, HSPB3 and HSPB8, which encode chaperones and show a common disease mechanism.

  16. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8. PMID:28018906

  17. Functional Effects of Hyperthyroidism on Cardiac Papillary Muscle in Rats

    Science.gov (United States)

    Vieira, Fabricio Furtado; Olivoto, Robson Ruiz; da Silva, Priscyla Oliveira; Francisco, Julio Cesar; Fogaça, Rosalvo Tadeu Hochmuller

    2016-01-01

    Background Hyperthyroidism is currently recognized to affect the cardiovascular system, leading to a series of molecular and functional changes. However, little is known about the functional influence of hyperthyroidism in the regulation of cytoplasmic calcium and on the sodium/calcium exchanger (NCX) in the cardiac muscle. Objectives To evaluate the functional changes in papillary muscles isolated from animals with induced hyperthyroidism. Methods We divided 36 Wistar rats into a group of controls and another of animals with hyperthyroidism induced by intraperitoneal T3 injection. We measured in the animals' papillary muscles the maximum contraction force, speed of contraction (+df/dt) and relaxation (-df/dt), contraction and relaxation time, contraction force at different concentrations of extracellular sodium, post-rest potentiation (PRP), and contraction force induced by caffeine. Results In hyperthyroid animals, we observed decreased PRP at all rest times (p < 0.05), increased +df/dt and -df/dt (p < 0.001), low positive inotropic response to decreased concentration of extracellular sodium (p < 0.001), reduction of the maximum force in caffeine-induced contraction (p < 0.003), and decreased total contraction time (p < 0.001). The maximal contraction force did not differ significantly between groups (p = 0.973). Conclusion We hypothesize that the changes observed are likely due to a decrease in calcium content in the sarcoplasmic reticulum, caused by calcium leakage, decreased expression of NCX, and increased expression of a-MHC and SERCA2.

  18. Functional Effects of Hyperthyroidism on Cardiac Papillary Muscle in Rats

    Directory of Open Access Journals (Sweden)

    Fabricio Furtado Vieira

    Full Text Available Abstract Background: Hyperthyroidism is currently recognized to affect the cardiovascular system, leading to a series of molecular and functional changes. However, little is known about the functional influence of hyperthyroidism in the regulation of cytoplasmic calcium and on the sodium/calcium exchanger (NCX in the cardiac muscle. Objectives: To evaluate the functional changes in papillary muscles isolated from animals with induced hyperthyroidism. Methods: We divided 36 Wistar rats into a group of controls and another of animals with hyperthyroidism induced by intraperitoneal T3 injection. We measured in the animals' papillary muscles the maximum contraction force, speed of contraction (+df/dt and relaxation (-df/dt, contraction and relaxation time, contraction force at different concentrations of extracellular sodium, post-rest potentiation (PRP, and contraction force induced by caffeine. Results: In hyperthyroid animals, we observed decreased PRP at all rest times (p < 0.05, increased +df/dt and -df/dt (p < 0.001, low positive inotropic response to decreased concentration of extracellular sodium (p < 0.001, reduction of the maximum force in caffeine-induced contraction (p < 0.003, and decreased total contraction time (p < 0.001. The maximal contraction force did not differ significantly between groups (p = 0.973. Conclusion: We hypothesize that the changes observed are likely due to a decrease in calcium content in the sarcoplasmic reticulum, caused by calcium leakage, decreased expression of NCX, and increased expression of a-MHC and SERCA2.

  19. Cutaneous metastasis as the presenting sign of papillary thyroid carcinoma.

    Science.gov (United States)

    Somoza, Arthur David; Bui, Hai; Samaan, Saad; Dhanda-Patil, Reena; Mutasim, Diya F

    2013-02-01

    Cutaneous metastasis of visceral tumors accounts for 2% of skin tumors. We report the case of a 71-year-old male with a smoking history who presented to dermatology department with a violaceous nodule of the right sideburn skin. The lesion was interpreted as an adenocarcinoma that was completely excised and was suspicious for a metastasis. There was a recommendation for additional work-up. At a different institution, a positron emission tomography scan showed a left hilar mass and uptake in the right thyroid. He was then referred to our hospital for tissue diagnosis. Mediastinoscopy with biopsy of the left hilar mass showed metastatic follicular thyroid carcinoma. Subsequently, a thyroid fine needle aspirate showed suspicion for malignancy with similar morphology. Thyroidectomy and central neck dissection showed right thyroid papillary carcinoma extending to one margin and involving the lymph nodes. The left hilar metastasis mass resection showed similar lymph node findings. A re-review of the sideburn excision revealed similar histopathology to the thyroid and mediastinal resection. This case illustrates the opportunity of considering metastatic thyroid carcinoma to skin even in cases which lack the classic cytologic and architectural features of papillary thyroid carcinoma follicular variant.

  20. Resection of left ventricular fibroma with subacute papillary muscle rupture.

    Science.gov (United States)

    Leja, Monika J; Perryman, Lynda; Reardon, Michael J

    2011-01-01

    Cardiac fibroma is a rare, benign tumor that occurs chiefly in children and rarely in adults. Most fibromas occur in the ventricles and may reach a very large size that complicates surgical removal. Herein, we report the case of a 38-year-old woman who presented with shortness of breath, fatigue, and lightheadedness and was found to have a 6 × 8-cm fibroma of the left ventricle. Surgical resection was successful, but 7 days later she developed sudden-onset severe mitral regurgitation due to partial disruption of the posterolateral papillary muscle. Mitral valve replacement with a 27-mm mechanical valve was performed. Five years later, the patient remained well, without evident tumor recurrence or cardiac dysfunction.Mitral valve dysfunction with regurgitation has been reported to occur before, immediately after, and late after the resection of left ventricular fibromas. To our knowledge, this is the 1st report of subacute papillary muscle rupture after the resection of a left ventricular fibroma. This case highlights the need to evaluate mitral valve function by carefully inspecting the resection margins after surgery and interpreting the echocardiographic results during the acute, subacute, and late time frames.

  1. SOLID CYSTIC PAPILLARY TUMOR OF PANCREAS IN EIGHT CHILDREN

    Institute of Scientific and Technical Information of China (English)

    Ke-ren Zhang; Hui-min Jia; Hong Shu; Xin-yuan Li

    2007-01-01

    Objective To estimate the clinical and pathological features of pancreatic solid cystic papillary tumor (SCPT) in children.Methods From 2000 to 2005 , 8 cases with SCPT of the pancreas were analyzed retrospectively. All cases but one were females. Average age was 12.8 years. By case review, we discussed the clinical and pathological features of SCPT in children.Results The chief complains were abdominal pain and palpable mass. There were 3 cases in the head, 1 case in the body, and 4 cases in the tail of pancreas. The procedures employed included local resection (1 case), distal pancre-atectomy (5 cases) , pancreaticoduodenectomy (1 case) , and biopsy (1 case). Histological examination showed solid with cystic areas and papillary protrusions in the 8 cases; as for immunohistochemical examinations, the positive rate was 100% for ct-antitrypsin (AACT) , 87.5% for vinmentin, and 62.5% for neuron-specific enolase (NSE). The patients were followed up for 2 months to 4 years but one was lost by follow-up and all were alive postoperatively. SCPT in 2 cases relapsed.Conclusion Occurring predominantly in young females, SCPT is usually curable by surgical resection with a favorable prognosis.

  2. Diagnostic and therapeutic endoscopic approaches to intraductal papillary mucinous neoplasm.

    Science.gov (United States)

    Turner, Brian G; Brugge, William R

    2010-10-27

    Pancreatic cystic lesions are increasingly identified on routine imaging. One specific lesion, known as intraductal papillary mucinous neoplasm (IPMN), is a mucinous, pancreatic lesion characterized by papillary cells projecting from the pancreatic ductal epithelium. The finding of mucin extruding from the ampulla is essentially pathognomonic for diagnosing these lesions. IPMNs are of particular interest due to their malignant potential. Lesions range from benign, adenomatous growths to high-grade dysplasia and invasive cancer. These mucinous lesions therefore require immediate attention to determine the probability of malignancy and whether observation or resection is the best management choice. Unresected lesions need long-term surveillance monitoring for malignant transformation. The accurate diagnosis of these lesions is particularly challenging due to the substantial similarities in morphology of pancreatic cystic lesions and limitations in current imaging technologies. Endoscopic evaluation of these lesions provides additional imaging, molecular, and histologic data to aid in the identification of IPMN and to determine treatment course. The aim of this article is to focus on the diagnostic and therapeutic endoscopic approaches to IPMN.

  3. Genetic Alterations in Hungarian Patients with Papillary Thyroid Cancer.

    Science.gov (United States)

    Tobiás, Bálint; Halászlaki, Csaba; Balla, Bernadett; Kósa, János P; Árvai, Kristóf; Horváth, Péter; Takács, István; Nagy, Zsolt; Horváth, Evelin; Horányi, János; Járay, Balázs; Székely, Eszter; Székely, Tamás; Győri, Gabriella; Putz, Zsuzsanna; Dank, Magdolna; Valkusz, Zsuzsanna; Vasas, Béla; Iványi, Béla; Lakatos, Péter

    2016-01-01

    The incidence of thyroid cancers is increasing worldwide. Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer. In our study, we analyzed these genetic alterations in 394 thyroid tissue samples (197 papillary carcinomas and 197 healthy). The somatic mutations and translocations were detected by Light Cycler melting method and Real-Time Polymerase Chain Reaction techniques, respectively. In tumorous samples, 86 BRAF (44.2%), 5 NRAS (3.1%), 2 HRAS (1.0%) and 1 KRAS (0.5%) mutations were found, as well as 9 RET/PTC1 (4.6%) and 1 RET/PTC3 (0.5%) translocations. No genetic alteration was seen in the non tumorous control thyroid tissues. No correlation was detected between the genetic variants and the pathological subtypes of papillary cancer as well as the severity of the disease. Our results are only partly concordant with the data found in the literature.

  4. Differential Diagnosis of a Follicular Carcinoma and Papillary Carcinoma of the Thyroid Gland Based on Sonographic Findings

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Kyung Sik; Bae, Il Hun; Lee, Seung Young; Jeon, Min Hee [Chungbuk National University College of Medicine, Cheongju (Korea, Republic of)

    2007-12-15

    The purpose of this study was to evaluate and compare the sonographic findings of a conventional papillary carcinoma, follicular carcinoma and a follicular variant of a papillary carcinoma. A total of 308 nodules from 231 patients that were diagnosed with a papillary carcinoma and a follicular carcinoma by surgery after sonography were analyzed. The nodules consisted of a conventional papillary carcinoma (255, 83%), a follicular variant of a papillary carcinoma (25, 8%), and a follicualar carcinoma (28, 9%). We compared and analyzed the sonographic findings of each nodule for content, margin, echotexture, shape, calcification and halo sign. A conventional papillary carcinoma showed significant different sonographic findings than a follicular carcinoma and a follicular variant of a papillary carcinoma for an ill-defined or well-defined spiculated margin (63.1%), marked hypoechogenicity (85.9%) and microcalcification (49%). A follicular carcinoma showed a significant difference than a conventional papillary carcinoma for a well-defined smooth margin (92.9%), iso, hypo- or hyperechogenicity (89.3%), wider than tall shape (100%) and halo sign (82.1%). The follicular variant of a papillary carcinoma showed similar findings to a follicular carcinoma except for marked hypoechogenicity (44%, p = 0.006) and taller than wide shape (16%, p = 0.027). The follicular carcinoma and follicular variant of a papillary carcinoma showed similar sonographic findings, but findings of a conventional papillary carcinoma were different

  5. Warthin-like papillary thyroid carcinoma: A rare tumor of the thyroid

    Directory of Open Access Journals (Sweden)

    Nuray Can

    2011-12-01

    Full Text Available Warthin-like papillary thyroid carcinoma is a rare variant of papillary thyroid carcinoma with favorable prognosis. The tumor is named “Warthin-like papillary thyroid carcinoma” because of bearing a striking morphological resemblance to Warthin’s tumor occurring in the salivary glands. Thyroid ultrasonography of 65 years old female patient with a history of bilateral subtotal thyroidectomy 30 years ago in another center with unknown histopathological diagnosis revealed a 20 mm isoechoic solid nodule in the left lobe and this nodule was hypoactive in thyroid scintigraphy. Grossly, a grey-tan colored, solid nodule with 1 cm diameter was seen in the left lobe. Histologically, the tumor was composed of papillary structures surrounded by marked lymphocytic stroma and oncocytic cells with papillary carcinoma’s nuclear features were lining the papillae. Hashimoto’s thyroiditis was present throughout the thyroid. Immunohistochemically, tumor cells exhibited cytokeratin 19, Thyroid transcription factor-1 (TTF-1, Galectin-3, HBME-1(Mesothelioma antibody and thyroglobulin positivity, proliferative index with Ki-67 was low. Warthin-like papillary thyroid carcinoma is a rare variant of papillary thyroid carcinoma and other oncocytic cell lesions especially Hurthle cell carcinoma should be kept in mind in the differential diagnosis of this neoplasm.

  6. Increased prevalence of chronic lymphocytic thyroiditis in Korean patients with papillary thyroid cancer.

    Directory of Open Access Journals (Sweden)

    Chang-Mo Oh

    Full Text Available In recent years, some reports have suggested that papillary thyroid cancers are more frequently associated with lymphocytic thyroiditis or Hashimoto's thyroiditis. This study investigated a potential increase in the prevalence of chronic lymphocytic thyroiditis among papillary thyroid cancer patients.We used national epidemiological survey data on thyroid cancer patients diagnosed in 1999, 2005, and 2008. A retrospective medical record survey was conducted by representative sampling of a national cancer incidence database. The analysis included 5,378 papillary thyroid cancer patients aged 20-79 years. We calculated the age-standardized prevalence and age-adjusted prevalence ratios using a binomial regression model with a log link for the prevalence of chronic lymphocytic thyroiditis among papillary thyroid cancer patients by sex for each year.The prevalence of chronic lymphocytic thyroiditis among papillary thyroid cancer patients was 4.0% and 12.8% for men and women in 1999, 6.5% and 24.6% in 2005, and 10.7% and 27.6% in 2008, respectively. Between 1999 and 2008, the age-standardized prevalence of chronic lymphocytic thyroiditis increased 4.1-fold in male patients and 2.0-fold in female patients with papillary thyroid cancer. The prevalence of other thyroid diseases, however, did not increase in either gender.Among Korean papillary thyroid cancer patients, the prevalence of chronic lymphocytic thyroiditis increased between 1999 and 2008, whereas the prevalence of other thyroid disorders did not change.

  7. Hereditary Lymphedema of the Leg – A Case Report

    Directory of Open Access Journals (Sweden)

    Birgit Heinig

    2017-07-01

    Full Text Available Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist when he was seven years old. He had never been treated for lymphedema but experienced multiple erysipelas during his life. After diagnostic procedures to exclude other causes of leg swelling, the diagnosis of hereditary lymphedema of the leg, stage III was confirmed. We initialized complex decongestive therapy. During two weeks of intensive treatment, the circumference of the left leg could be reduced by 10 cm. This case illustrates the "natural course" hereditary lymphedema. But it raises the hope that even after decades of ignorance, the patients benefits from complex decongestive treatment. Therapeutic nihilism is unnecessary and poses lymphedema patients to risks of infection and secondary malignancies like Stewart-Trewes syndrome.

  8. Deranged Wnt signaling is frequent in hereditary nonpolyposis colorectal cancer

    DEFF Research Database (Denmark)

    Isinger-Ekstrand, Anna; Therkildsen, Christina; Bernstein, Inge

    2011-01-01

    The Wnt signaling pathway is frequently deranged in colorectal cancer and is a key target for future preventive and therapeutic approaches. Colorectal cancers associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome are characterized by wide-spread microsatellite instability...

  9. Simultaneous occurrence of medullary and papillary thyroid microcarcinomas: a case series and review of the literature

    Directory of Open Access Journals (Sweden)

    Adnan Zaina

    2013-01-01

    Full Text Available Abstract Introduction Papillary thyroid microcarcinoma has been demonstrated to present in association with medullary thyroid carcinoma, however, medullary thyroid carcinoma and papillary thyroid carcinoma represent rare entities. In recent years this rarity has been increasingly observed. The pathogenesis is still controversial. Genetic analysis of RET proto-oncogenes in cases of simultaneous papillary thyroid carcinoma and medullary thyroid carcinoma has so far provided conflicting results; although it seems that germline mutations play a potential role in the development of both histological types. Case presentations This paper describes four rare cases of simultaneous medullary thyroid carcinoma and papillary thyroid microcarcinoma with unique features: Case one was a 43-year-old Jewish woman, born in Israel, daughter of a Latvian immigrant mother and a father born in Israel. Case two was a 44-year-old Arab woman born in Israel. Case three was a 45-year-old Jewish woman, born in Israel, daughter of Moroccan immigrant parents and is unique for the presence of lymph node metastatic medullary thyroid carcinoma, and one lymph node with metastatic papillary carcinoma found in the same side. Case four was a 77-year-old Jewish woman, born in Iraq. These cases are unique in their composition of thyroid carcinoma, consisting of histologic features of medullary thyroid carcinoma, papillary thyroid microcarcinoma, and follicular thyroid adenoma. The four cases represent different ethnicity groups that live in north Israel, and case four is notable for the advanced age of the patient (77 years. Conclusion These four cases add more data supporting the coincidental coexistence of papillary thyroid microcarcinoma and medullary thyroid carcinoma; our results may suggest that the simultaneous occurrence of medullary thyroid carcinoma and papillary thyroid microcarcinoma is generally a simple reflection of this coincidence. Endocrinologists and pathologists

  10. [Hereditary spherocytosis: Review. Part I. History, demographics, pathogenesis, and diagnosis].

    Science.gov (United States)

    Donato, Hugo; Crisp, Renée Leonor; Rapetti, María Cristina; García, Eliana; Attie, Myriam

    2015-01-01

    Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.

  11. An adolescent with hereditary spherocytosis who presented with splenic infarction.

    Science.gov (United States)

    Jones, Lara; Refai, Zafer; Linney, Mike

    2015-07-02

    A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. On admission, he had a low-grade fever and was grossly anaemic; examination revealed splenomegaly. An ultrasound scan confirmed splenomegaly with areas of splenic infarction. Subsequent tests suggested possible Epstein-Barr virus infection. The patient recovered well and had a functional spleen on discharge. This case report presents an unusual complication of isolated hereditary spherocytosis.

  12. Pyoderma Gangrenosum in a Patient with Hereditary Spherocytosis.

    Science.gov (United States)

    Kwon, Hyoung Il; Paek, Jun Oh; Kim, Jeoung Eun; Ro, Young Suck; Ko, Joo Yeon

    2016-03-01

    Pyoderma gangrenosum (PG) is a rare, relapsing cutaneous disease with 4 distinctive clinical manifestations: ulcerative, bullous, pustular, and vegetative lesions. It mainly occurs in adults and is frequently associated with systemic diseases, most commonly inflammatory bowel disease, rheumatologic disease, or hematological dyscrasias. However, there have been no previous reports of PG in a patient with hereditary spherocytosis, a common inherited hemolytic anemia. We report here a unique case of PG in a 15-year-old boy with underlying hereditary spherocytosis.

  13. Acute edema blisters in a hereditary angioedema cutaneous attack.

    Science.gov (United States)

    Fernández Romero, D; Di Marco, P; Malbrán, A

    2008-01-01

    Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks.

  14. Systemic treatment for hereditary cancers: a 2012 update

    OpenAIRE

    Imyanitov, Evgeny N; Byrski, Tomasz

    2013-01-01

    The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no clinical studies on other hereditary cancer types were available until the year 2009, when Byrski et al. presented the data on unprecedented sensitivity of BRCA1-associated breast malignancies to cisplatin. This breakthrough has revived interest to the treatment of cancer in germ-line muta...

  15. Hereditary sensory autonomic neuropathy and anaesthesia - a case report

    Directory of Open Access Journals (Sweden)

    Nandini Dave

    2007-01-01

    Full Text Available The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Autonomic dysfunction is present to a variable degree and can have several implications for anaesthesia. We report the case of a patient with Hereditary sensory and autonomic neuropathy who was posted for a below knee amputation and discuss the anaesthesia management.

  16. Hereditary opalescent dentin: a report of two cases.

    Science.gov (United States)

    Gupta, Siddharth; Bhowate, Rahul R; Bhati, Ashok

    2010-07-01

    The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with variable expressivity, either in presence with osteogenesis imperfecta or as a separate clinical entity in persons who have none of the features of osteogenesis imperfecta. A seven-year old boy and his mother were both diagnosed with hereditary opalescent dentin. A review of the family dental history revealed that this condition affected not only the child's mother but his maternal grandfather and great grandfather. Both the son and the mother exhibited the same clinical and radiologic features as those reported previously with no evidence of osteogenesis imperfecta. Being an autosomal disease, hereditary opalescent dentin runs in the family and can affect both the deciduous and permanent dentitions as a dominant trait. Once a patient is diagnosed with hereditary opalescent dentin, other family members should be evaluated given the condition is hereditary.

  17. Aggressive Digital Papillary Adenocarcinoma of the Hand Presenting as a Felon

    Directory of Open Access Journals (Sweden)

    Justin R. Bryant

    2017-01-01

    Full Text Available Aggressive digital papillary adenocarcinoma is a rare eccrine sweat gland malignancy that is frequently misdiagnosed at initial presentation. Histologically, this tumor is similar in appearance to many adenocarcinomas and as such may be diagnosed as a metastatic lesion. We present the case of a patient with digital papillary adenocarcinoma, which was initially diagnosed as a felon. No consensus has been published regarding the treatment of this disease. A review of the diagnosis, pathology, treatment, and adjunctive treatments of aggressive digital papillary adenocarcinoma are also included.

  18. Coexistence of papillary thyroid cancer and Hashimoto thyroiditis in children: report of 3 cases.

    Science.gov (United States)

    Koibuchi, Harumi; Omoto, Kiyoka; Fukushima, Noriyoshi; Toyotsuji, Tomonori; Taniguchi, Nobuyuki; Kawano, Mikihiko

    2014-07-01

    This report documents 3 pediatric papillary thyroid carcinoma cases with associated Hashimoto thyroiditis. In all 3 cases, hypoechoic nodules accompanied by multiple echogenic spots were noted on sonography of the thyroid. Hashimoto thyroiditis was suspected on the basis of positive thyroid autoantibody test results and pathologic examinations of thyroidectomy specimens, which revealed chronic thyroiditis with lymphocytic infiltration as the background of papillary thyroid carcinoma development. The potential for papillary carcinoma development warrants close follow-up, and meticulous sonographic examinations must be performed in children with Hashimoto thyroiditis.

  19. Complete rupture of the anterolateral papillary muscle caused by coronary spasm.

    Science.gov (United States)

    Yamazaki, Masataka; Fukui, Toshihiro; Mahara, Keitaro; Takanashi, Shuichiro

    2015-12-01

    Papillary muscle rupture usually occurs as a catastrophic complication of acute myocardial infarction in patients with coronary artery stenosis; it is therefore less common in patients without coronary artery stenosis. We report the case of a 67-year old woman without coronary artery stenosis who suffered an acute anterolateral papillary muscle rupture and was successfully treated with mitral valve replacement. Evidence of coronary spasm was found on a coronary vasomotion test, suggesting that a high sensitivity to coronary spasm may explain a mechanism of isolated papillary muscle infarction.

  20. Ectopic thyroid papillary carcinoma of nasopharynx associated with adenoid hypertrophy: an unusual presentation.

    Science.gov (United States)

    Tian, Linli; Jiao, Yufei; Liu, Ming; Li, Minghua; Yao, Hongchao

    2014-09-20

    Ectopic thyroid tissue of nasopharynx is an uncommon phenomenon and papillary thyroid carcinoma arising from the tissue is extremely rare. The authors report a rare case of 16-year-old girl with papillary thyroid carcinoma of nasopharynx. Clinicians were ever confused by adenoid hypertrophy and solved the diagnostic dilemma by adequate examinations. In the case, we mainly emphasize that surgeons should be aware of and actively consider such a possibility of ectopic papillary thyroid carcinoma of nasopharynx in children and adolescents with long-term nasal obstruction, even if thyroid carcinoma is a rare tumor.

  1. Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics.

    Science.gov (United States)

    Pelizzo, M R; Pennelli, G; Zane, M; Galuppini, F; Colletti, P M; Merante Boschin, I; Rubello, D

    2015-08-01

    We present here two cases of papillary thyroid carcinoma (PTC) in patients affected by Lynch syndrome (LS). The first case is a 47-year-old woman with typical hereditary non-polyposis colorectal cancer (HNPCC) syndrome, reported with endometrial and ovarian carcinoma at age 43, and colon cancer at age 45. The patient underwent total thyroidectomy and central node dissection in 2007, at 47years old, with a histological diagnosis of PTC (T1aN1a). Molecular genetics showed a germ-line mutation of the MLH1 gene, 1858 G>T(E620X), with substitution of glycine with a stop codon at position 620. This mutation has pathogenetic significance and was considered responsible for the various tumours of the HNPCC spectrum. In particular, in the same kindred, spanning 5 generations, there were 5 members with colorectal cancer, 4 with endometrial cancer, 3 with gastric and 2 with breast cancer. The second case is a 34-year-old man with typical HNPCC syndrome with colonic resection for colon cancer at age 21. The patient underwent total thyroidectomy with central and lateral node dissection in 2010, at age 34, with a histological diagnosis of PTC with nodal metastases (pT4N1b). Molecular genetic analysis showed a germ-line mutation of the MSH2 gene (thymine insertion at position 907). This mutation had pathogenetic significance and was considered responsible for HNPCC development. Two similar cases have been reported: a 39-year-old woman, and a 44-year-old woman, affected by HNPCC syndrome, with anaplastic thyroid carcinoma and undifferentiated thyroid carcinoma, respectively. We reviewed the Lynch syndrome literature on the history, genetics and expanding tumour spectrum of this condition. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  2. Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

    Directory of Open Access Journals (Sweden)

    Kolokolova A.M.

    2016-09-01

    Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

  3. Hereditary Angioedema Attacks: Local Swelling at Multiple Sites.

    Science.gov (United States)

    Hofman, Zonne L M; Relan, Anurag; Hack, C Erik

    2016-02-01

    Hereditary angioedema (HAE) patients experience recurrent local swelling in various parts of the body including painful swelling of the intestine and life-threatening laryngeal oedema. Most HAE literature is about attacks located in one anatomical site, though it is mentioned that HAE attacks may also involve multiple anatomical sites simultaneously. A detailed description of such multi-location attacks is currently lacking. This study investigated the occurrence, severity and clinical course of HAE attacks with multiple anatomical locations. HAE patients included in a clinical database of recombinant human C1-inhibitor (rhC1INH) studies were evaluated. Visual analog scale scores filled out by the patients for various symptoms at various locations and investigator symptoms scores during the attack were analysed. Data of 219 eligible attacks in 119 patients was analysed. Thirty-three patients (28%) had symptoms at multiple locations in anatomically unrelated regions at the same time during their first attack. Up to five simultaneously affected locations were reported. The observation that severe HAE attacks often affect multiple sites in the body suggests that HAE symptoms result from a systemic rather than from a local process as is currently believed.

  4. Novel therapeutic approaches for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Iyer, Shilpa

    2013-03-01

    Many human childhood mitochondrial disorders result from abnormal mitochondrial DNA (mtDNA) and altered bioenergetics. These abnormalities span most of the mtDNA, demonstrating that there are no "unique" positions on the mitochondrial genome that when deleted or mutated produce a disease phenotype. This diversity implies that the relationship between mitochondrial genotype and clinical phenotype is very complex. The origins of clinical phenotypes are thus unclear, fundamentally difficult-to-treat, and are usually clinically devastating. Current treatment is largely supportive and the disorders progress relentlessly causing significant morbidity and mortality. Vitamin supplements and pharmacological agents have been used in isolated cases and clinical trials, but the efficacy of these interventions is unclear. In spite of recent advances in the understanding of the pathogenesis of mitochondrial diseases, a cure remains elusive. An optimal cure would be gene therapy, which involves introducing the missing gene(s) into the mitochondria to complement the defect. Our recent research results indicate the feasibility of an innovative protein-transduction ("protofection") technology, consisting of a recombinant mitochondrial transcription factor A (TFAM) that avidly binds mtDNA and permits efficient targeting into mitochondria in situ and in vivo. Thus, the development of gene therapy for treating mitochondrial disease offers promise, because it may circumvent the clinical abnormalities and the current inability to treat individual disorders in affected individuals. This review aims to focus on current treatment options and future therapeutics in mitochondrial disease treatment with a special emphasis on Leber's hereditary optic neuropathy.

  5. Eeyore: a novel mouse model of hereditary deafness.

    Directory of Open Access Journals (Sweden)

    Kerry A Miller

    Full Text Available Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a basis to guide therapeutic strategies to combat these conditions. We have identified a novel mouse model of non-syndromic sensorineural hearing loss with linkage to a region on chromosome 18. Eeyore mutant mice have early onset progressive hearing impairment and show abnormal structure of the sensory epithelium from as early as 4 weeks of age. Ultrastructural and histological analyses show irregular hair cell structure and degeneration of the sensory hair bundles in the cochlea. The identification of new genes involved in hearing is central to understanding the complex genetic pathways involved in the hearing process and the loci at which these pathways are interrupted in people with a genetic hearing loss. We therefore discuss possible candidate genes within the linkage region identified in eeyore that may underlie the deafness phenotype in these mice. Eeyore provides a new model of hereditary sensorineural deafness and will be an important tool in the search for novel deafness genes.

  6. Papillary carcinoma of the breast: diagnostic agreement and management implications.

    Science.gov (United States)

    Rakha, Emad A; Ahmed, Mohamed A; Ellis, Ian O

    2016-11-01

    Papillary carcinoma (PC), which is a rare type of breast cancer, comprises a heterogeneous group of tumours. The diagnostic categorization of PC as in-situ and invasive disease remains a matter of debate with respect to interpretation of its overlapping histological features, and with respect to the uncertainty in clinical behaviour that this dilemma raises. The aim of this study was to assess the diagnostic agreement regarding PC among reporting breast pathologists. Six cases of PC included in the UK National Health Service Breast Screening Programme breast pathology interpretive external quality assurance scheme in the last 10 years were reviewed. In this scheme, one representative haematoxylin and eosin-stained slide from each case is circulated to an average of 600 participants. Data on diagnostic categories were collected and slides were reviewed according to the World Health Organization (WHO) diagnostic criteria. The number of final diagnoses of malignancy (in situ or invasive) was highest for invasive PC (99% of the participants diagnosed it as malignant), followed by solid PC (94% and 95%, respectively), encapsulated PC (92% and 92%, respectively), and papillary ductal carcinoma in situ (DCIS) (88%). Most cases of papillary DCIS were correctly classified as in-situ disease (77%), but 28% of the participants classified invasive PC cases as in-situ disease. Of the participants, 24% reported encapsulated PC as invasive disease. Of the two solid PC cases, one showed some features consistent with the WHO description of invasive solid PC, whereas the other showed features of classic (non-invasive) solid PC. Both cases were reported as invasive by 75% and 77% of participants, respectively. Breast specialists more frequently classified PC as an in-situ carcinoma than did non-specialist participants, and the difference was significant (P = 0.013). Recognition of PC as a malignant entity (in situ or invasive) is high, but concordance of its classification into in

  7. FDG uptake in the pathologically proven papillary thyroid cancer

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Sung; Yun, Mi Jin; Cho, Arthur; Lee, Jong Doo [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2007-02-15

    Metastatic thyroid cancers with I-131 uptake have been known to show no increase of FDG uptake whereas those without I-131 uptake tend to demonstrate increased uptake on PET. In this study, we evaluated the degree of FDG uptake in primary thyroid cancers of papillary histology before surgery. Forty FDG PET studies were performed on the patients who had papillary cancer proven by fine needle aspiration. The degree of FDG uptake was visually categorized as positive or negative (positive if the tumor showed discernible FDG; negative if the tumor didn't) and the peak standard uptake value (peak SUV) of the papillary thyroid cancer (PTC) were compared with the size of PTC. The mean size of 26 PTC with positive FDG uptake was 1.9{+-} 1.4 cm (0.5 {approx} 5 cm). In 13 PTC with negative FDG uptake, the mean size of those was 0.5 {+-} 0.2 cm (0.2 {approx} 0.9 cm). All PTC larger than 1 cm (2.5 {+-}1.4 cm, 1 {approx} 5 cm) have positive FDG uptake (peak SUV = 6.4 {+-} 5.7, 1.7 {approx} 22.7). Among the micropapillary thyroid cancer (microPTC; PTC smaller than 1 cm), 8 microPTC show positive FDG uptake (peak SUV = 2.9 {+-} 1.3, 1.7 {approx} 5.5), while 13 microPTC show negative finding (peak SUV 1.3 {+-} 0.2, 1.1{approx} 1.7). The size of microPTC with positive FDG uptake is significantly larger than that of microPTC with negative FDG uptake (0.7 {+-} 0.1cm vs 0.4 {+-} 0.2 cm, {rho} = 0.01). All PTCs larger than 1cm show positive FDG uptake in our study. In other words, thyroid lesions larger than 1cm with negative FDG uptake are unlikely to be PTC. So far, only poorly differentiated thyroid cancers are known to show increased FDG uptake. Our results seem to be contradictory to what is known in the literature. Further study is needed to understand better the significance of increased FDG uptake in PTC in relation to expression of NIS and GLUT.

  8. The Immune Interplay between Thyroid Papillary Carcinoma and Hepatic Fibrosis.

    Directory of Open Access Journals (Sweden)

    Nidal Muhanna

    Full Text Available A high prevalence of thyroid papillary cancer was reported in hepatitis-C-virus (HCV positive patients. However, the mechanistic role of hepatic-fibrosis in thyroid malignancy progressions is still unclear.We aimed to study the immune-modulatory interactions between thyroid papillary carcinoma and hepatic-fibrosis.Hepatic-fibrosis was induced in nude-nu-male mice by intra-peritoneal administration of carbon-tetrachloride. To induce thyroid-tumor, a thyroid papillary carcinoma cell line (NPA was injected subcutaneously in the backs. Fibrotic profile was estimated by α-smooth-muscle-actin (αSMA expression in liver tissue extracts using western-blots and RT-PCR. Intra-hepatic NK cells were isolated and stained for NK activity (CD107a by flow cytometry. Liver histopathology (H&E staining, thyroid tumor mass and serum alanine aminotransferase (ALT, serum vascular endothelial growth factor (VEGF and free-T4 levels were also assessed.Ex-vivo: NPA cells were co-cultured with intra-hepatic NK cells isolated from fibrotic mice with/without the tumor were analyzed for CFSE-proliferations. Both tumor groups (with/without hepatic-fibrosis excreted higher serum free T4 levels. Hepatic-fibrosis increased tumor weight and size and serum free-T4 levels. In addition, tumor induction increased liver injury (both hepatic-fibrosis, necro-inflammation and serum ALT levels. In addition, tumor-bearing animals with hepatic-fibrosis had increased NK activity. NPA tumor-bearing animals increased fibrosis in spite of increased NK activity; probably due to a direct effect through increased serum free-T4 excretions. Serum VEGF levels were significantly increased in the fibrotic- bearing tumor groups compared to the non-fibrotic groups. In-vitro, NK cells from fibrotic tumor-bearing animals reduced proliferation of NPA cells. This decrease is attributed to increase NK cells activity in the fibrotic animals with the NPA tumors.Our results propose that NK cells although were

  9. Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Höblinger A

    2009-04-01

    Full Text Available Abstract Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

  10. Intraductal papillary mucinous neoplasms and other pancreatic cystic lesions

    Institute of Scientific and Technical Information of China (English)

    Hugh James Freeman

    2008-01-01

    Pancreatic cystic neoplasms are being increasingly recognized, even in the absence of symptoms, in large part, due to markedly improved imaging modalities such as magnetic resonance imaging (MRI)/magnetic resonance cholangio pancreatography (MRCP) and computer tomography (CT) scanning. During the past 2 decades, better imaging of these cystic lesions has resulted in definition of different types, including pancreatic intraductal papillary mucinous neoplasms (IPMN). While IPMN represent only a distinct minority of all pancreatic cancers, they appear to be a relatively frequent neoplastic form of pancreatic cystic neoplasm. Moreover, IPMN have a much better outcome and prognosis compared to pancreatic ductal adenocarcinomas. Therefore, recognition of this entity is exceedingly important for the clinician involved in diagnosis and further evaluation of a potentially curable form of pancreatic cancer.

  11. Papillary tumor of pineal region: A rare entity

    Directory of Open Access Journals (Sweden)

    Meena Patil

    2013-01-01

    Full Text Available Pineal tumors comprise 0.4-1.0% of intracranial space occupying lesions in adults. Papillary tumor of pineal region (PTPR is a very rare entity. It has been newly described in WHO 2007 classification of brain tumors. Only a few case reports are available in the literature. We report a case of a 60-year-old female presenting with headache, giddiness and reduced vision. Imaging studies showed a pineal mass with areas of hemorrhage. All ventricles were normal. There was a past history of a pineal gland tumor excised 2 years ago. This case is being reported for its rarity and aggressiveness in the form of recurrence. Limited/available immunohistochemistry workup has been done.

  12. Papillary carcinoma of thyroid with paranasal sinus metastases

    Directory of Open Access Journals (Sweden)

    Renu Madan

    2013-01-01

    Full Text Available Tumors that metastasize to paranasal sinus (PNS are rare, with fewer than 200 cases reported worldwide. Of these, thyroid malignancies contribute 8%. We discuss here a patient aged 45 years with PNS mets from follicular variant of papillary carcinoma thyroid who had undergone surgery and radioiodine ablation. He presented with nasal obstruction and epistaxis 2 years after local treatment. CT scan of PNS showed a large heterogeneously enhancing mass lesion in PNS, which on further evaluation was found to be consistent with metastases from primary thyroid cancer. He was given palliative radiotherapy to the metastatic lesion. Patient was alive after eighteen months of radiotherapy but there was no response to radiotherapy on imaging. To conclude PNS metastases from thyroid cancer are rare. But it should be always kept in mind in symptomatic patients. Also, patients with PNS mets can have a long disease free survival after palliative radiotherapy.

  13. Primary papillary thyroid carcinoma previously treated incompletely with radiofrequency ablation.

    Science.gov (United States)

    Kim, Hoon Yub; Ryu, Woo Sang; Woo, Sang Uk; Son, Gil Soo; Lee, Eun Sook; Lee, Jae Bok; Bae, Jeoung Won

    2010-01-01

    Radiofrequency ablation (RFA) recently has been applied to benign thyroid nodules, mainly for the cosmetic reasons, and limited cases of local recurrences or focal distant metastases of well-differentiated thyroid cancer, in the high-risk reoperative condition or for the palliative purpose. But no report has been made on the RFA for primary thyroid cancer to date. We report on a patient with primary papillary carcinoma of thyroid gland who had undergone RFA before the cytological diagnosis of malignancy, later referred and treated with robotic surgery successfully. We can learn the following lessons from our case; (1) the RFA for operable primary thyroid malignancy should be avoided, because of the possibility of remnant viable cancer and undetectable nodal metastasis, and (2) robotic or endoscopic thyroid surgery may be a feasible operative method for benign or malignant thyroid nodules previously treated with RFA.

  14. Primary papillary thyroid carcinoma previously treated incompletely with radiofrequency ablation

    Directory of Open Access Journals (Sweden)

    Kim Hoon

    2010-01-01

    Full Text Available Radiofrequency ablation (RFA recently has been applied to benign thyroid nodules, mainly for the cosmetic reasons, and limited cases of local recurrences or focal distant metastases of well-differentiated thyroid cancer, in the high-risk reoperative condition or for the palliative purpose. But no report has been made on the RFA for primary thyroid cancer to date. We report on a patient with primary papillary carcinoma of thyroid gland who had undergone RFA before the cytological diagnosis of malignancy, later referred and treated with robotic surgery successfully. We can learn the following lessons from our case; (1 the RFA for operable primary thyroid malignancy should be avoided, because of the possibility of remnant viable cancer and undetectable nodal metastasis, and (2 robotic or endoscopic thyroid surgery may be a feasible operative method for benign or malignant thyroid nodules previously treated with RFA.

  15. Role of Radiotherapy in Aggressive Digital Papillary Adenocarcinoma.

    Science.gov (United States)

    Feldmeyer, Laurence; Prieto, Victor G; Ivan, Doina; Nagarajan, Priyadharsini; Tetzlaff, Michael T; Curry, Jonathan L; Bell, Diana; Moon, Bryan S; Torres-Cabala, Carlos A; Aung, Phyu P

    2016-01-01

    Aggressive digital papillary adenocarcinoma (ADPA) is a rare and often misdiagnosed malignant tumor of the sweat glands, most commonly encountered on the extremities. Due to the relatively high metastatic potential of the tumor, aggressive surgical treatment, including amputation, is generally recommended. We present a case of a 36-year-old male with an over 10-year history of a skin lesion on the right hand in the web space between the index and the middle finger. Histologically, the lesion revealed a malignant epithelioid neoplasm with features consistent with ADPA. The lesion was treated with 5-weeks preoperative radiation (total 5000 cGy) followed by surgical resection. There was no evidence of residual disease confirmed by pathological study of re-excision specimen as well as imaging studies. This is, to the best of knowledge, the first report of complete regression of an ADPA after radiotherapy.

  16. Atrial papillary fibroelastoma: A stranger in a strange place

    Directory of Open Access Journals (Sweden)

    Imran Haider

    2015-01-01

    Full Text Available Papillary fibroelastoma (PFE is the most common primary tumor of cardiac valves and predominantly located on the left side. Its origin from non-valvular endocardium is extremely rare. We describe a case of an 81-year-old Caucasian male who presented with a mobile right atrial mass at the junction of right atrial wall and superior vena cava (SVC. Initially it was thought to be a thrombus and the patient was treated with anti-coagulation therapy without any change in size of the mass. Surgical excision was performed to establish the diagnosis and histopathology confirmed the diagnosis of PFE. In conclusion, this case is unique due to location of the tumor and its attachment with superior vena cava. Physicians should consider this unusual location of PFE in the differential diagnoses of an intra-atrial mass.

  17. SPECT/CT imaging in children with papillary thyroid carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hwa-Young; Gelfand, Michael J.; Sharp, Susan E. [Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States)

    2011-08-15

    SPECT/CT improves localization of single photon-emitting radiopharmaceuticals. To determine the utility of SPECT/CT in children with papillary thyroid carcinoma. 20 SPECT/CT and planar studies were reviewed in 13 children with papillary thyroid carcinoma after total thyroidectomy. Seven studies used I-123 and 13 used I-131, after elevating TSH by T4 deprivation or intramuscular thyrotropin alfa. Eight children had one study and five children had two to four studies. Studies were performed at initial post-total thyroidectomy evaluation, follow-up and after I-131 treatment doses. SPECT/CT was performed with a diagnostic-quality CT unit in 13 studies and a localization-only CT unit in 7. Stimulated thyroglobulin was measured (except in 2 cases with anti-thyroglobulin antibodies). In 13 studies, neck activity was present but poorly localized on planar imaging; all foci of uptake were precisely localized by SPECT/CT. Two additional foci of neck uptake were found on SPECT/CT. SPECT/CT differentiated high neck uptake from facial activity. In six studies (four children), neck uptake was identified as benign by SPECT/CT (three thyroglossal duct remnants, one skin contamination, two by precise anatomical CT localization). In two children, SPECT/CT supported a decision not to treat with I-131. When SPECT/CT was unable to identify focal uptake as benign, stimulated thyroglobulin measurements were valuable. In three of 13 studies with neck uptake, SPECT/CT provided no useful additional information. SPECT/CT precisely localizes neck iodine uptake. In small numbers of patients, treatment is affected. SPECT/CT should be used when available in thyroid carcinoma patients. (orig.)

  18. Intravascular papillary endothelial hyperplasia: magnetic resonance imaging of finger lesions

    Energy Technology Data Exchange (ETDEWEB)

    Sung, Jinkyeong; Kim, Jee-Young [The Catholic University of Korea, Department of Radiology, St. Vincent' s Hospital, College of Medicine, Suwon, Gyeonggi-do (Korea, Republic of); Yoo, Changyoung [The Catholic University of Korea, Department of Hospital Pathology, St. Vincent' s Hospital, College of Medicine, Suwon, Gyeonggi-do (Korea, Republic of)

    2016-02-15

    To describe magnetic resonance imaging (MRI) features of intravascular papillary endothelial hyperplasia (IPEH), to identify findings differentiating IPEH of the finger from that of other locations, and to correlate these with pathology. Nineteen patients with 20 I.E. masses of the finger (n = 13) and other locations (n = 7) were evaluated. All patients underwent MRI, and the results were correlated with pathology. Seventeen IPEHs, including all IPEHs of the finger, were located in the subcutis, the three other lesions in the muscle layer. On T1WI, all masses were isointense or slightly hyperintense. IPEHs of the finger (n = 13) revealed focal hyperintense nodules (n = 2) or central hypointensity (n = 2) on T1WI, hypointensity with a hyperintense rim (n = 7), hyperintensity with hypointense nodules (n = 5), or isointensity with a hypointense rim (n = 1) on T2WI, and rim enhancement (n = 5), heterogeneous enhancement with nodular nonenhanced areas (n = 6), peripheral nodular enhancement (n = 1), or no enhancement (n = 1) on gadolinium-enhanced T1WI. IPEHs of other locations (n = 7) demonstrated focal hyperintense nodules (n = 5) on T1WI, hyperintensity with hypointense nodules (n = 5) or heterogeneous signal intensity (n = 2) on T2WI, and rim or rim and septal enhancement (n = 6) or peripheral nodular enhancement (n = 1). Microscopically, IPEHs were composed of thrombi that were hypointense on T2WI and papillary endothelial proliferations that showed T2 hyperintensity and enhancement. MRI of finger IPEH reveals well-demarcated subcutaneous masses with hypointensity or hypointense nodules with peripheral hyperintensity on T2WI, as well as peripheral enhancement. T1 hyperintense nodules, internal heterogeneity on T2WI, and septal enhancement are more common in IPEH of other locations. (orig.)

  19. Papillary carcinoma in a thyroglossal duct: case report

    Directory of Open Access Journals (Sweden)

    Antonio Santos Martins

    1999-11-01

    Full Text Available CONTEXT: Thyroglossal duct cysts are the most common congenital cervical abnormality in childhood. Malignant lesions are rare in thyroglossal duct cysts (about 1%. OBJECTIVE: To report a case of papillary carcinoma in thyroglossal duct cysts. DESIGN: Case report. CASE REPORT: The patient was a 21-year-old female with a four-month history of an anterior midline neck mass but without other symptoms. The physical examination revealed a 4.0 cm diameter, smooth, painless, cystic nodule at the level of the hyoid bone. The thyroid gland was normal by palpation and no neck lymph nodes were found. Indirect laryngoscopy, fine-needle biopsy aspiration and cervical ultrasound were normal and compatible with the physical findings of a thyroglossal duct cyst. The patient underwent surgery with this diagnosis, under general anesthesia, and the mass was resected by the usual Sistrunk procedure. There were no local signs of invasion of the tissue surrounding the cyst or duct at surgery. The patient was discharged within 24 hours. Histopathological examination of the specimen showed a 3.5 x 3.0 x 3.0 cm thyroglossal cyst, partially filled by a solid 1.0 x 0.5 cm brownish tissue. Histological sections showed a papillary carcinoma in the thyroid tissue of a thyroglossal cyst, with normal thyroid tissue at the boundary of the carcinoma. There was no capsule invasion and the margins were negative. The follow-up of the patient consisted of head and neck examinations, ultrasonography of the surgical region and thyroid, and total body scintigraphy. The patient has been followed up for two years with no further evidence of disease.

  20. 儿童遗传性肾脏疾病%Hereditary kidney diseases in children

    Institute of Scientific and Technical Information of China (English)

    张琰琴; 丁洁; 王芳; 张宏文

    2013-01-01

    About 10 to 15 percent of kidney diseases are inherited or related to genetic factors. While, hereditary kidney diseases have no specific clinical manifestations and react poorly to the therapy, as a result, about 30 percent of hospitalized children with chronic renal failure is due to hereditary kidney diseases in our country. Hereditary kidney diseases are related to many genes. Molecular genetic analysis plays an important role in the diagnosis and prenatal diagnosis of hereditary kidney diseases. Our group have made a series of research in hereditary kidney diseases for nearly 30 years. Here we review the research work and the main results in hereditary kidney diseases of our group.

  1. Telomere instability in papillary bladder urothelial carcinomas: Comparison with grading and risk of recurrence

    Directory of Open Access Journals (Sweden)

    Giuseppe Mucciardi

    2014-01-01

    Conclusions: Our study demonstrates that TL, TA and TBPs are altered in tumors and non-cancerous mucosa in patients with papillary urothelial NMIBC. Further studies are warranted to identify their suitability as a potential biomarker.

  2. The estrogen receptors in the papillary carcinoma of the thyroid gland.

    Science.gov (United States)

    Vaiman, Michael; Olevson, Youlian; Habler, Liliana; Eviatar, Ephraim; Zehari, Sergei; Sandbank, Judith; Kessler, Alex

    2010-01-01

    In this study, the objective was to evaluate the presence of estrogen receptors alpha and beta (ERalpha and ERbeta) in cases of papillary carcinoma of the thyroid gland and to assess the practicality of this test. Immunohistochemical stains were performed for both ERalpha and ERbeta, for evaluation of immunoreactivity in 90 papillary carcinomas. Three variables were evaluated in each sample: the intensity of the staining both nuclear and cytoplasmatic, and the spread of the stain over the sample. None of the histological samples showed immunoreactivity for ERalpha. Positive immunoreactivity results for ERbeta were found in tissue samples in 66.6% (60 cases). The study shows that ERbeta has no significant specification for differentiation between papillary carcinoma and other malignant lesions of the thyroid, while ERalpha is undetectable in this lesion. The ER testing in cases of papillary carcinoma of the thyroid gland is nonspecific and might be not necessary.

  3. [Brain metastasis from papillary thyroid carcinoma with acute intracerebral hemorrhage: a surgical case report].

    Science.gov (United States)

    Chonan, Masashi; Mino, Masaki; Yoshida, Masahiro; Sakamoto, Kazuhiro

    2012-05-01

    We report a rare case of brain metastasis from papillary thyroid carcinoma with intracerebral hemorrhage. A 79-year-old woman presented with sudden headache and monoplegia of the right upper limb 10 years after diagnosis of thyroid papillary adenocarcinoma. Despite the known metastatic lesions in the cervical lymph nodes and lungs, she had been well for 10 years since thyroidectomy, focal irradiation and internal radiation of 131I. CT demonstrated intracerebral hemorrhage in the left temporal lobe. Magnetic resonance imaging showed marked signal heterogeneity. She underwent radical surgery on the day of the onset and the histological diagnosis was metastatic brain tumor of thyroid papillary carcinoma. Postoperative course was uneventful, and the monoplegia was improved. Papillary thyroid carcinoma has a relatively benign course, and surgical removal of the brain metastasis is able to contribute to longer survival times for patients.

  4. Cell division cycle 45 promotes papillary thyroid cancer progression via regulating cell cycle.

    Science.gov (United States)

    Sun, Jing; Shi, Run; Zhao, Sha; Li, Xiaona; Lu, Shan; Bu, Hemei; Ma, Xianghua

    2017-05-01

    Cell division cycle 45 was reported to be overexpressed in some cancer-derived cell lines and was predicted to be a candidate oncogene in cervical cancer. However, the clinical and biological significance of cell division cycle 45 in papillary thyroid cancer has never been investigated. We determined the expression level and clinical significance of cell division cycle 45 using The Cancer Genome Atlas, quantitative real-time polymerase chain reaction, and immunohistochemistry. A great upregulation of cell division cycle 45 was observed in papillary thyroid cancer tissues compared with adjacent normal tissues. Furthermore, overexpression of cell division cycle 45 positively correlates with more advanced clinical characteristics. Silence of cell division cycle 45 suppressed proliferation of papillary thyroid cancer cells via G1-phase arrest and inducing apoptosis. The oncogenic activity of cell division cycle 45 was also confirmed in vivo. In conclusion, cell division cycle 45 may serve as a novel biomarker and a potential therapeutic target for papillary thyroid cancer.

  5. Significance of IMP3, nucleophosmin, and Ki-67 expression in papillary thyroid carcinoma.

    Science.gov (United States)

    Yorukoglu, Aygun; Yalcin, Nagihan; Avci, Arzu; Cakalagaoglu, Fulya; Yaylali, Guzin; Akin, Fulya; Haciyanli, Mehmet; Ozden, Akin

    2015-02-01

    The purpose of our study was to investigate the diagnostic value of expression of IMP3, nucleophosmin, and correlation of these markers with Ki-67 proliferation index in papillary thyroid carcinoma and benign neoplasms of thyroid gland. The aim was also to investigate whether there is a difference between papillary and micropapillary carcinomas with regard to clinicopathologic parameters beside IMP3, nucleophosmin, and Ki-67 proliferation index. It was concluded that IMP3 and nucleophosmin cannot be a routine diagnostic marker for discrimination of papillary carcinomas and benign lesions. IMP3 positive staining was quite scarce in IMP3 positive papillary carcinomas although specifity of IMP3 is 100%. A statistically significant correlation was not detected between nucleophosmin, IMP-3, and Ki-67 proliferation index. A statistically significant correlation was found between tumor size, lymphovascular embolism, and Ki-67 proliferation index. There was also significant correlation between tumor size and lymphovascular embolism.

  6. Growth and development: hereditary and mechanical modulations.

    Science.gov (United States)

    Mao, Jeremy J; Nah, Hyun-Duck

    2004-06-01

    Growth and development is the net result of environmental modulation of genetic inheritance. Mesenchymal cells differentiate into chondrogenic, osteogenic, and fibrogenic cells: the first 2 are chiefly responsible for endochondral ossification, and the last 2 for sutural growth. Cells are influenced by genes and environmental cues to migrate, proliferate, differentiate, and synthesize extracellular matrix in specific directions and magnitudes, ultimately resulting in macroscopic shapes such as the nose and the chin. Mechanical forces, the most studied environmental cues, readily modulate bone and cartilage growth. Recent experimental evidence demonstrates that cyclic forces evoke greater anabolic responses of not only craniofacial sutures, but also cranial base cartilage. Mechanical forces are transmitted as tissue-borne and cell-borne mechanical strain that in turn regulates gene expression, cell proliferation, differentiation, maturation, and matrix synthesis, the totality of which is growth and development. Thus, hereditary and mechanical modulations of growth and development share a common pathway via genes. Combined approaches using genetics, bioengineering, and quantitative biology are expected to bring new insight into growth and development, and might lead to innovative therapies for craniofacial skeletal dysplasia including malocclusion, dentofacial deformities, and craniofacial anomalies such as cleft palate and craniosynostosis, as well as disorders associated with the temporomandibular joint.

  7. Advances in laboratory diagnosis of hereditary spherocytosis.

    Science.gov (United States)

    Farias, Mariela Granero

    2016-11-12

    Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction of red blood cell membrane proteins, such as α spectrin, β spectrin, ankyrin, anion channel protein (Band-3 protein), protein 4.1 and protein 4.2. Conventionally, HS diagnosis is established through a series of tests, which include spherocytes identification in peripheral smear, reticulocyte count, osmotic fragility, etc. Currently, different hematological analyzers provide erythrocyte indicators that estimate the presence of spherocytes and correlate that with HS, which can be useful for disease screening. The most traditional method is the osmotic fragility (OF) test, which is labor-intensive and time-consuming to perform and presents low sensitivity and specificity values. Thus, new methods have been developed for HS diagnosis, such as flow cytometry. Current guidelines recommend the use of flow cytometry as a screening test for HS diagnosis using the eosin-5'-maleimide (EMA) binding test. Thus, HS diagnosis is the result of a collaboration between clinicians and laboratories, who should take into account the family history and the exclusion of other causes of secondary spherocytosis.

  8. Automated reticulocyte parameters for hereditary spherocytosis screening.

    Science.gov (United States)

    Lazarova, Elena; Pradier, Olivier; Cotton, Frédéric; Gulbis, Béatrice

    2014-11-01

    The laboratory diagnosis of hereditary spherocytosis (HS) is based on several screening and confirmatory tests; our algorithm includes clinical features, red blood cell morphology analysis and cryohaemolysis test, and, in case of positive screening, sodium dodecyl sulphate polyacrylamide gel electrophoresis as a diagnostic test. Using the UniCel DxH800 (Beckman Coulter) haematology analyser, we investigated automated reticulocyte parameters as HS screening tool, i.e. mean reticulocyte volume (MRV), immature reticulocyte fraction (IRF) and mean sphered cell volume (MSCV). A total of 410 samples were screened. Gel electrophoresis was applied to 159 samples that were positive for the screening tests. A total of 48 patients were diagnosed as HS, and seven were diagnosed as acquired autoimmune haemolytic anaemia (AIHA). Some other 31 anaemic conditions were also studied. From the receiver operating characteristic (ROC) curve analysis, both delta (mean cell volume (MCV)-MSCV) and MRV presented an area under the curve (AUC) of 0.98. At the diagnostic cut-off of 100 % sensitivity, MRV showed the best specificity of 88 % and a positive likelihood ratio of 8.7. The parameters IRF, MRV and MSCV discriminated HS not only from controls and other tested pathologies but also from AIHA contrary to the cryohaemolysis test. In conclusion, automated reticulocyte parameters might be helpful for haemolytic anaemia diagnostic orientation even for general laboratories. In combination with cryohaemolysis, they ensure an effective and time-saving screening for HS for more specialised laboratories.

  9. Multimodal Imaging in Hereditary Retinal Diseases

    Directory of Open Access Journals (Sweden)

    Francesco Pichi

    2013-01-01

    Full Text Available Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed. A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy. Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated. Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included. Seven patients with enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with fundus albipunctatus. Conclusions. In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient’s condition. Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.

  10. Episodic neurological dysfunction in hereditary peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Girish Baburao Kulkarni

    2015-01-01

    Full Text Available Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X was confirmed with detection of mutation in Gap Junction B1 (GJB1 gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation. Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.

  11. Leber hereditary optic neuropathy: current perspectives.

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

  12. Leber hereditary optic neuropathy: current perspectives

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. PMID:26170609

  13. [Designation criteria for Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Nakamura, Makoto; Mimura, Osamu; Wakakura, Masato; Inatani, Masaru; Nakazawa, Toru; Shiraga, Fumio

    2015-05-01

    Designation criteria for Leber's hereditary optic neuropathy (LHON) have been established by a working group for retino-choroidal and optic atrophy funded by the Ministry of Health, Labor, and Welfare (MHLW) of Japan in collaboration with the Japanese Neuro-ophthalmology Society. The criteria are composed of three major symptoms and three ancillary test findings. According to the number and the combination of these symptoms and findings, subjects are classified into definite, probable, and possible LHON cases and asymptomatic carriers. The major symptoms include bilateral involvement with a time-lag, a papillomacular bundle atrophy, both characteristic optic disc findings at the acute phase. In the ancillary testings, mitochondrial DNA mutations specific for LHON are detailed with a table listing the mutation loci being attached. To enhance readers' understanding of description of the major symptoms and ancillary test findings, explanatory remarks on 11 parameters are supplemented. The establishment of the criteria facilitates epidemiological survey of LHON by MHLW and contributes to improvement of welfare for patients with LHON in Japan.

  14. [Hereditary sideroblastic anemia: a rare diagnosis].

    Science.gov (United States)

    Brahem-Jmili, N; Salem, N; Abdelkefi, S; Champ, B Grand; Bekri, S; Sboui, H; Mahjoub, T; Yacoub, S; Kortas, M

    2004-01-01

    Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

  15. Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2015-01-01

    Full Text Available Recent data indicate that in patients with hereditary hemorrhagic teleangiectasia (HHT, low iron levels due to inadequate replacement after hemorrhagic iron losses are associated with elevated factor-VIII plasma levels and consecutively increased risk of venous thrombo-embolism. Here, we report a patient with HHT, low iron levels, elevated factor-VIII, and recurrent venous thrombo-embolism. A 64-year-old multimorbid Serbian gipsy was diagnosed with HHT at age 62 years. He had a history of recurrent epistaxis, teleangiectasias on the lips, renal and pulmonary arterio-venous malformations, and a family history positive for HHT. He had experienced recurrent venous thrombosis (mesenteric vein thrombosis, portal venous thrombosis, deep venous thrombosis, insufficiently treated with phenprocoumon during 16 months and gastro-intestinal bleeding. Blood tests revealed sideropenia and elevated plasma levels of coagulation factor-VIII. His history was positive for diabetes, arterial hypertension, hyperlipidemia, smoking, cerebral abscess, recurrent ischemic stroke, recurrent ileus, peripheral arterial occluding disease, polyneuropathy, mild renal insufficiency, and epilepsy. Following recent findings, hypercoagulability was attributed to the sideropenia-induced elevation of coagulation factor-VIII. In conclusion, HHT may be associated with hypercoagulability due to elevated factor-VIII associated with low serum iron levels from recurrent bleeding. Iron substitution may prevent HHT patients from hypercoagulability.

  16. Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

    Science.gov (United States)

    Lin, Chun Shi; Sharpley, Mark S; Fan, Weiwei; Waymire, Katrina G; Sadun, Alfredo A; Carelli, Valerio; Ross-Cisneros, Fred N; Baciu, Peter; Sung, Eric; McManus, Meagan J; Pan, Billy X; Gil, Daniel W; Macgregor, Grant R; Wallace, Douglas C

    2012-12-04

    An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination. Mitochondrial analysis revealed partial complex I and respiration defects and increased reactive oxygen species (ROS) production, whereas synaptosome analysis revealed decreased complex I activity and increased ROS but no diminution of ATP production. Thus, LHON pathophysiology may result from oxidative stress.

  17. Elevated D-dimers in attacks of hereditary angioedema are not associated with increased thrombotic risk

    OpenAIRE

    Reshef, A; Zanichelli, A.; LONGHURST, H; Relan, A; Hack, C E

    2015-01-01

    Background Recommended management of attacks of hereditary angioedema (HAE) due to C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) includes therapy with exogenous C1INH. Thrombotic/thromboembolic events (TEE) have been reported with plasma-derived C1INH, but so far none with recombinant human C1INH (rhC1INH). This phase III, randomized, placebo (saline)-controlled study evaluated the safety of rhC1INH 50 IU/kg for the treatment of acute attacks in 74 patients with C1-INH-HAE. Methods M...

  18. Hereditary pancreatitis and secondary screening for early pancreatic cancer.

    Science.gov (United States)

    Vitone, L J; Greenhalf, W; Howes, N R; Neoptolemos, J P

    2005-01-01

    Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres.

  19. Differentiation of papillary renal cell carcinoma subtypes on CT and MRI.

    Science.gov (United States)

    Egbert, Nathan D; Caoili, Elaine M; Cohan, Richard H; Davenport, Matthew S; Francis, Isaac R; Kunju, L Priya; Ellis, James H

    2013-08-01

    The objective of our study was to determine the frequency of atypical papillary renal cell carcinomas (RCCs) and identify imaging differences between type 1 and type 2 papillary RCCs once atypical papillary RCC tumors have been excluded. Eighty-two papillary RCC tumors were classified at pathology as type 1, type 2, or atypical. The CT and MRI examinations of these tumors were reviewed. Imaging features such as tumor size, margins, heterogeneity, and enhancement were assessed and the findings in type 1 and type 2 tumors were compared. There were 43 type 1 and 13 type 2 tumors. Atypical histologic features (i.e., tumors containing both type 1 and type 2 components, clear cells, or components with atypically high nuclear grade [in type 1 tumors] or low nuclear grade [in type 2 tumors]) were seen in 26 tumors. On CT, type 2 tumors more commonly had infiltrative margins (p = 0.05) and were more likely to have calcifications (p = 0.04) than type 1 tumors, although these features were seen in all tumor types. Type 2 tumors were also more heterogeneous than type 1 tumors (p = 0.04). On CT, 11 papillary RCCs showed enhancement of less than 20 HU, seven of which showed enhancement of less than 10 HU. On MRI, all tumors showed enhancement on subtraction images. Nearly one third of papillary RCCs in our patient population had atypical features at histology. On CT and MRI, there are some significant differences in imaging features between type 1 and type 2 tumors; however, substantial overlap precludes categorization on a per-patient basis. On CT, many papillary RCCs do not enhance, indicating that assessment of enhancement alone is insufficient for differentiating papillary RCCs from hyperdense cysts.

  20. Application of a cervical low incision in the functional neck dissection of thyroid papillary carcinoma

    OpenAIRE

    Xu, Jiajie; Chen, Chao; Zheng,ChuanMing; Wang, Kejing; Shang, Jinbiao; FANG, XIANHUA; Ge, Minghua; TAN, ZHUO

    2016-01-01

    The present study aimed to discuss the advantage of the application of a cervical low incision for functional neck dissection in patients with thyroid papillary carcinoma. The study was a retrospective analysis of 87 thyroid papillary carcinoma patients; cervical low incision in the functional neck dissection was applied for 47 cases and the classic ‘L’ incision was applied for 40 cases. The different integrity, surgical time, blood loss and the aesthetic property of the incision were compare...

  1. Brain metastasis as initial presentation of papillary adenocarcinoma of the lung: case report

    Directory of Open Access Journals (Sweden)

    Irving Gabriel Araujo Bispo

    2013-09-01

    Full Text Available The authors describe the case of a 33-year-old patient with history of seizures alone without any previous symptom, being diagnosed with brain metastases from primary papillary adenocarcinoma of the lung. Emphasis is given to the diagnostic investigation for brain metastasis and prognostic evaluation of papillary adenocarcinoma of the lung, and a brief literature review on such diseases is performed.

  2. Papillary muscle rupture caused by bacterial endocarditis: role of transesophageal echocardiography.

    Science.gov (United States)

    Habib, G; Guidon, C; Tricoire, E; Djiane, V; Monties, J R; Luccioni, R

    1994-01-01

    A 22-year-old man had severe pulmonary congestion and required mechanical ventilation. Endocarditis was suspected because a 2/6 systolic murmur was heard at the apex and because Osler nodes were present. Transthoracic and transesophageal echocardiography allowed correct diagnosis of papillary muscle rupture causing massive mitral regurgitation. To our knowledge, this is the first reported case of papillary muscle rupture caused by bacterial endocarditis diagnosed by transthoracic and transesophageal echocardiography.

  3. Increased Prevalence of Chronic Lymphocytic Thyroiditis in Korean Patients with Papillary Thyroid Cancer

    OpenAIRE

    Chang-Mo Oh; Sohee Park; Joo Young Lee; Young-Joo Won; Aesun Shin; Hyun-Joo Kong; Kui-Sun Choi; You Jin Lee; Ki-Wook Chung; Kyu-Won Jung

    2014-01-01

    Background In recent years, some reports have suggested that papillary thyroid cancers are more frequently associated with lymphocytic thyroiditis or Hashimoto's thyroiditis. This study investigated a potential increase in the prevalence of chronic lymphocytic thyroiditis among papillary thyroid cancer patients. Materials and Methods We used national epidemiological survey data on thyroid cancer patients diagnosed in 1999, 2005, and 2008. A retrospective medical record survey was conducted by...

  4. Fine structure of capillaries in the conus papillaris of the limbless lizard, Ophisaurus apodus (anguidae, lacertilia).

    Science.gov (United States)

    Jasiński, A

    1977-08-26

    The conus papillaris of Ophisaurus apodus consists of blood vessels and pigment cells. The capillary walls are formed by endothelial cells, scarce pericytes and basal laminae. The cell bodies are attenuated and the plasmalemma of their luminal and abluminal surfaces forms microvilli. The perivascular space is well developed, containing nerve fibers and their terminals. Similar localization and ultrastructure of avian pecten oculi and lacertilian conus papillaris suggest homology of these structures.

  5. Hereditary Spherocytosis and Hereditary Elliptocytosis: Aberrant Protein Sorting during Erythroblast Enucleation

    Energy Technology Data Exchange (ETDEWEB)

    Salomao, Marcela; Chen, Ke; Villalobos, Jonathan; Mohandas, Narla; An, Xiuli; Chasis, Joel Anne

    2010-02-08

    During erythroblast enucleation, membrane proteins distribute between extruded nuclei and reticulocytes. In hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), deficiencies of membrane proteins, in addition to those encoded by the mutant gene, occur. Elliptocytes, resulting from protein 4.1R gene mutations, lack not only 4.1R but also glycophorin C, which links the cytoskeleton and bilayer. In HS resulting from ankyrin-1 mutations, band 3, Rh-associated antigen, and glycophorin A are deficient. The current study was undertaken to explore whether aberrant protein sorting, during enucleation, creates these membrane-spanning protein deficiencies. We found that although glycophorin C sorts to reticulocytes normally, it distributes to nuclei in 4.1R-deficient HE cells. Further, glycophorin A and Rh-associated antigen, which normally partition predominantly to reticulocytes, distribute to both nuclei and reticulocytes in an ankyrin-1-deficient murine model of HS. We conclude that aberrant protein sorting is one mechanistic basis for protein deficiencies in HE and HS.

  6. Papillary thyroid carcinoma: does the association with Hashimoto's thyroiditis affect the clinicopathological characteristics of the disease?

    Directory of Open Access Journals (Sweden)

    Fábio Muradás Girardi

    2015-06-01

    Full Text Available INTRODUCTION: Papillary carcinoma is the most common malignant thyroid neoplasm. The effect of the concurrent presence of Hashimoto's thyroiditis and papillary thyroid carcinoma remains controversial. OBJECTIVE: To evaluate the association between Hashimoto's thyroiditis and clinicopathological parameters in thyroid papillary carcinoma cases, based on an historical institutional cohort analysis. METHODS: Cross-sectional study obtained from a historical cohort, including all cases submitted to thyroidectomy for papillary thyroid carcinoma in a single institution during an 11-year period study. RESULTS: A total of 417 patients with papillary thyroid carcinoma were enrolled; 148 (35.4% also had Hashimoto's thyroiditis. A female predominance among cases associated to Hashimoto's thyroiditis was observed. The thyroid tumor, in cases associated with Hashimoto's thyroiditis, had a smaller mean diameter, lower frequency of extra-thyroid extension, and earlier clinicopathological staging. CONCLUSIONS: A high proportion of papillary thyroid carcinoma cases are associated with Hashimoto's thyroiditis. There are associations among these cases with several histopathological factors already recognized for their prognostic value, which by themselves could impact outcomes.

  7. Papillary thyroid carcinoma: does the association with Hashimoto's thyroiditis affect the clinicopathological characteristics of the disease?

    Science.gov (United States)

    Girardi, Fábio Muradás; Barra, Marinez Bizarro; Zettler, Cláudio Galleano

    2015-01-01

    Papillary carcinoma is the most common malignant thyroid neoplasm. The effect of the concurrent presence of Hashimoto's thyroiditis and papillary thyroid carcinoma remains controversial. To evaluate the association between Hashimoto's thyroiditis and clinicopathological parameters in thyroid papillary carcinoma cases, based on an historical institutional cohort analysis. Cross-sectional study obtained from a historical cohort, including all cases submitted to thyroidectomy for papillary thyroid carcinoma in a single institution during an 11-year period study. A total of 417 patients with papillary thyroid carcinoma were enrolled; 148 (35.4%) also had Hashimoto's thyroiditis. A female predominance among cases associated to Hashimoto's thyroiditis was observed. The thyroid tumor, in cases associated with Hashimoto's thyroiditis, had a smaller mean diameter, lower frequency of extra-thyroid extension, and earlier clinicopathological staging. A high proportion of papillary thyroid carcinoma cases are associated with Hashimoto's thyroiditis. There are associations among these cases with several histopathological factors already recognized for their prognostic value, which by themselves could impact outcomes. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  8. Crush cytology of a primary intraspinal rhabdoid papillary meningioma: a case report.

    Science.gov (United States)

    Jeong, Juhyeon; Kim, Na Rae; Lee, Sang Gu

    2013-01-01

    Both rhabdoid and papillary meningioma are rare variants of meningioma categorized as WHO grade III. Here, we report a rare case of combined rhabdoid papillary meningioma with discussion of its differential intraoperative cytologic diagnoses. The patient was a 72-year-old female who presented with a huge mass at the cervical spine on MRI. The crush smears showed a radially arranged pattern of elongated tumor cells centered around the vessels, which formed a pseudorosette-like papillary structure, as well as singly scattered large gemistocyte-like rhabdoid cells with distinct cell borders. Rhabdoid cells had eccentrically placed vesicular nuclei with plump, fibrillary-to-hyaline cytoplasm with short broad processes. Nuclei had occasional nuclear inclusions with no nuclear grooves. Rhabdoid papillary meningiomas, encountered less often, should be distinguished from metastatic tumors of rhabdoid or papillary configuration, astrocytomas, ependymomas and atypical teratoid/rhabdoid tumor. Search for eosinophilic hyaline cytoplasm, rather than a fibrillary one, is critical for distinguishing it from other commonly encountered spinal cord tumors in the total absence of meningothelial whorls, like the present case. We also emphasize that the present case is the first case of rhabdoid papillary meningioma with primary manifestation in the spinal cord.

  9. Warthin-Like Papillary Carcinoma of the Thyroid: A Case Series and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ayça ERŞEN

    2013-01-01

    Full Text Available Warthin-like tumor of the thyroid is a recently described rare variant of thyroid papillary carcinoma. The distinguishing histological feature of this variant is papillary foldings lined by oncocytic neoplastic cells with clear nuclei and nuclear pseudoinclusions, accompanied by prominent lymphocytic infiltrate in the papillary stalks. Its prognosis has been reported to be almost similar to conventional papillary carcinoma. In this case series, we report four cases with Warthin-like papillary carcinoma of the thyroid, diagnosed at Dokuz Eylul University Faculty of Medicine Department of Pathology in 2008 and 2009. Three patients were female. The mean patient age was 39 years (range, 20-56 and the mean tumor size was 1.7 cm (range, 0.9-2.0 cm. All of the cases had lymphocytic thyroiditis in the background. None of the tumors showed lymphovascular invasion. The patients are free of any recurrence and/or distant metastasis with a mean follow-up of 25 months. This rare variant of thyroid papillary carcinoma with distinct histopathological features should be indicated in pathology reports. Further studies and long-term follow-up of patients are needed to highlight the biological behavior of this variant.

  10. [Clinical and pathological differences between papillary thyroid carcinoma with Graves' disease and papillary thyroid carcinoma with Hashimoto's thyroiditis].

    Science.gov (United States)

    Xu, D D; Lun, Y; Liu, X; Jiang, H; Song, J B; Duan, Z Q; Xin, S J; Zhang, J

    2017-08-22

    Objective: To explore the clinical and pathological differences between papillary thyroid carcinoma (PTC) with Graves' disease (GD) and PTC with Hashimoto's thyroiditis (HT). Methods: A total of 33 PTC patients with GD and 132 PTC patients with HT in the First Affiliated Hospital of China Medical University from January 2009 to December 2015 were enrolled. The clinical and histopathological data were analyzed. Results: The average serum concentration of thyroid stimulating hormone (TSH) of PTCs with GD was significantly lower than PTCs with HT [0.01 (0, 0.10) mU/L vs 2.28(1.51, 3.14) mU/L, Pdisease [12.1%(4/33) vs 11.4% (15/132), P=1.00], papillary thyroid micro-carcinoma (PTMC) [60.6% (20/33) vs 60.6%(80/132), P=1.00]and classic PTC in all its variant patterns [81.8%(27/33) vs 75.0%(99/132), P=0.36]. The age (P<0.01, OR=0.95, 95%CI: 0.92-0.98) and PTMC (P<0.01, OR=0.30, 95%CI: 0.13-0.67), rather than TSH (P=0.08) were independently correlated with LNM. Recurrence rate of PTC with GD was significantly lower than PTC with HT (log-rank test, P=0.03). In Cox proportional hazards regression model, variant pattern of PTC was independently correlated with recurrence rate (P<0.05). Conclusions: GD with PTC wasn't different from HT concomitant with PTC, except for thyroid function test. In addition, recurrence rate of PTC with GD was lower than that of PTC with HT after controlling TSH in the same level.

  11. Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families

    Institute of Scientific and Technical Information of China (English)

    袁瑛; 叶俊; 郑树

    2004-01-01

    Background Hereditary nonpolyposis colorectal cancer (HNPPC) is one of the most common genetic syndrome related with mutation of human mismatch repair genes. This study was to evaluate the clinical significance of suspected hereditary nonpolyposis colorectal cancer (sHNPCC) criteria I and the clinical and genetic features of International Collaborative Group-HNPCC (ICG-HNPCC) and sHNPCC families.Methods Twenty-nine ICG-HNPCC families fulfilling the Amsterdam criteria and 34 sHNPCC families fulfilling the sHNPCC criteria I were collected. PCR-SSCP and DNA sequencing analysis were employed to screen the germline mutations of the hMLH1 and hMSH2 genes in these families.Results The ICG group had more colorectal cancer (CRC) patients per family than did the suspected group (P0.05), mutation type, and mutation distribution. Comparison of the families with and without mutation showed no significant difference in CRC patients per family, Lynch classification, and tumor spectrum.Conclusions ICG-HNPCC and sHNPCC families that have similar clinical manifestations and genetic basis indicate a similar nature for cancer development. The application of sHNPCC criteria I will facilitate clinical diagnosis and treatment of small families.

  12. [Hereditary pathology of the enamel and dentin. A review of molecular genetic research].

    Science.gov (United States)

    Beliakov, Iu A; Elizarova, V M; Krotov, V A; Blinnikova, O E

    2000-01-01

    Mapped phenotype of imperfect amelogenesis, type II imperfect dentinogenesis, hereditary opalescent dentin, Capdepont's dysplasia, and type II dentin dysplasia is described for the first time in Russia. Classification of hereditary disorders in dentin development is presented.

  13. Chapter 22: Hereditary and acquired angioedema.

    Science.gov (United States)

    Georgy, Mary S; Pongracic, Jacqueline A

    2012-01-01

    Hereditary angioedema (HAE) is an autosomal dominant disorder defined by a deficiency of functional C1 esterase inhibitor (C1-INH). Acquired angioedema (AAE) is caused by either consumption (type 1) or inactivation (type 2) of CI-INH. Both HAE and AAE can be life-threatening. The screening test for both conditions is complement component C4, which is low to absent at times of angioedema or during quiescent periods. A useful test to differentiate HAE from AAE is C1q protein, which is normal in HAE and low in AAE. There are three types of HAE: type 1 HAE is most common, occurring in ∼85% of patients and characterized by decreased production of C1-INH, resulting in reduced functional activity to 5-30% of normal. In type 2, which occurs in 15% of cases, C1-INH is detectable in normal or elevated quantities but is dysfunctional. Finally, type 3, which is rare and almost exclusively occurs in women, is estrogen dependent and associated with normal CI-INH and C4 levels. One-third of these patients have a gain-of-function mutation in clotting factor XII leading to kallikrein-driven bradykinin production. Although the anabolic steroid, danazol, is useful in increasing the concentration of C4 and reducing the episodes of angioedema in HAE and AAE, it has expected adverse effects. Fortunately, disease-specific therapies are available and include C1-INH enzyme for i.v. infusion either acutely or empirically, ecallantide, an inhibitor of kallikrein, and icatibant, a bradykinin B2-receptor antagonist, both approved for acute angioedema and administered, subcutaneously.

  14. Use of ecallantide in pediatric hereditary angioedema.

    Science.gov (United States)

    MacGinnitie, Andrew J; Davis-Lorton, Mark; Stolz, Leslie E; Tachdjian, Raffi

    2013-08-01

    Hereditary angioedema (HAE) due to C1-inhibitor deficiency is a rare autosomal dominant disease that manifests as sudden unpredictable attacks of subcutaneous or submucosal edema affecting the skin, intestine, and upper airway. Ecallantide is a plasma kallikrein inhibitor indicated for treatment of HAE attacks in patients aged 16 years and older. This analysis examines safety and efficacy of ecallantide for treatment of HAE attacks in patients <18 years of age. Data for patients aged 9 to 17 years treated subcutaneously with 30 mg ecallantide or placebo were pooled from 4 clinical studies (2 double-blind, placebo-controlled and 2 open-label). Efficacy end points included 2 HAE-specific patient-reported outcome measures: mean symptom complex severity (MSCS) score and treatment outcome score (TOS). Times to initial improvement, sustained improvement, and complete or near-complete symptom resolution were calculated. Treatment-emergent adverse events were examined. Overall, 29 pediatric patients were included; 25 of them received ecallantide for 62 total HAE attacks, and 10 received placebo for 10 total attacks. Ecallantide-treated attacks revealed clinically relevant reduction in symptom severity at 4 hours postdosing based on mean change in MSCS score (-1.4 ± 0.9 ecallantide versus -0.9 ± 0.6 placebo) and TOS (73.9 ± 35.50 ecallantide versus 45.0 ± 43.78 placebo). Patients treated with ecallantide showed rapid improvement in symptoms (median time to complete or near-complete symptom resolution: 181 minutes). No serious adverse events related to treatment were observed. Ecallantide appears effective for HAE attacks in adolescents, with rapid symptom improvement. No unexpected safety issues were identified.

  15. Outcomes of Lensectomy in Hereditary Lens Subluxation

    Directory of Open Access Journals (Sweden)

    Mohammad-Hossein Dehghan

    2008-12-01

    Full Text Available

    PURPOSE: To evaluate the results of pars plana lensectomy in patients with hereditary lens subluxation. METHOD: Hospital records of patients with hereditary lens subluxation who had undergone pars plana lensectomy at Labbafinejad Medical Center, Tehran-Iran from 1996 to 2003 were reviewed. Patients with more than 6 months of follow up were included. Underlying disorders, best corrected visual acuity (BCVA before and after surgery, intraocular pressure (IOP, postoperative refraction and complications were evaluated. RESULTS: Overall, records of 87 eyes of 49 patients including 27 male and 22 female subjects were reviewed. Mean follow up duration was 20±18 months. Underlying disorders leading to lens subluxation included Marfan syndrome (79.5%, Weill-Marchesani syndrome (8.2%, simple ectopia lentis (8.2%, and homocystinuria (4.1%. The most common indication for surgery was non-correctable refractive error (92.1%. Mean BCVA was 1.13 LogMAR (20/250 preoperatively, which improved to 0.26 LogMAR (20/30-20/40 postoperatively (P < 0.001. BCVA better than 20/40 was achieved in 82.8% of cases after surgery. Angle-supported anterior chamber intraocular lens (ACIOL was implanted in

  16. Cytokine production in patients with papillary thyroid cancer and associated autoimmune Hashimoto thyroiditis.

    Science.gov (United States)

    Zivancevic-Simonovic, Snezana; Mihaljevic, Olgica; Majstorovic, Ivana; Popovic, Suzana; Markovic, Slavica; Milosevic-Djordjevic, Olivera; Jovanovic, Zorica; Mijatovic-Teodorovic, Ljiljana; Mihajlovic, Dusan; Colic, Miodrag

    2015-08-01

    Hashimoto thyroiditis (HT) is the most frequent thyroid autoimmune disease, while papillary thyroid cancer (PTC) is one of the most common endocrine malignancies. A few patients with HT also develop PTC. The aim of this study was to analyze cytokine profiles in patients with PTC accompanied with autoimmune HT in comparison with those in patients with PTC alone or HT alone and healthy subjects. Cytokine levels were determined in supernatants obtained from phytohemagglutinin (PHA)-stimulated whole blood cultures in vitro. The concentrations of selected cytokines: Th1-interferon gamma (IFN-γ); Th2-interleukin 4 (IL-4), interleukin 5 (IL-5), interleukin 6 (IL-6), interleukin 10 (IL-10) and interleukin 13 (IL-13); Th9-interleukin 9 (IL-9); and Th17-interleukin 17 (IL-17A) were measured using multiplex cytokine detection systems for human Th1/Th2/Th9/Th17/Th22. We found that PTC patients with HT produced significantly higher concentrations of IL-4, IL-6, IL-9, IL-13 and IFN-γ than PTC patients without HT. In conclusion, autoimmune HT affects the cytokine profile of patients with PTC by stimulating secretion of Th1/Th2/Th9 types of cytokines. Th1/Th2 cytokine ratios in PTC patients with associated autoimmune HT indicate a marked shift toward Th2 immunity.

  17. Identification of Differentially Expressed Kinase and Screening Potential Anticancer Drugs in Papillary Thyroid Carcinoma

    Science.gov (United States)

    Zhang, Huairong

    2016-01-01

    Aim. We aim to identify protein kinases involved in the pathophysiology of papillary thyroid carcinoma (PTC) in order to provide potential therapeutic targets for kinase inhibitors and unfold possible molecular mechanisms. Materials and Methods. The gene expression profile of GSE27155 was analyzed to identify differentially expressed genes and mapped onto human protein kinases database. Correlation of kinases with PTC was addressed by systematic literature search, GO and KEGG pathway analysis. Results. The functional enrichment analysis indicated that “mitogen-activated protein kinases pathway” expression was extremely enriched, followed by “neurotrophin signaling pathway,” “focal adhesion,” and “GnRH signaling pathway.” MAPK, SRC, PDGFRa, ErbB, and EGFR were significantly regulated to correct these pathways. Kinases investigated by the literature on carcinoma were considered to be potential novel molecular therapeutic target in PTC and application of corresponding kinase inhibitors could be possible therapeutic tool. Conclusion. SRC, MAPK, and EGFR were the most important differentially expressed kinases in PTC. Combined inhibitors may have high efficacy in PTC treatment by targeting these kinases. PMID:27703281

  18. MicroRNA-mediated networks underlie immune response regulation in papillary thyroid carcinoma

    Science.gov (United States)

    Huang, Chen-Tsung; Oyang, Yen-Jen; Huang, Hsuan-Cheng; Juan, Hsueh-Fen

    2014-09-01

    Papillary thyroid carcinoma (PTC) is a common endocrine malignancy with low death rate but increased incidence and recurrence in recent years. MicroRNAs (miRNAs) are small non-coding RNAs with diverse regulatory capacities in eukaryotes and have been frequently implied in human cancer. Despite current progress, however, a panoramic overview concerning miRNA regulatory networks in PTC is still lacking. Here, we analyzed the expression datasets of PTC from The Cancer Genome Atlas (TCGA) Data Portal and demonstrate for the first time that immune responses are significantly enriched and under specific regulation in the direct miRNA-target network among distinctive PTC variants to different extents. Additionally, considering the unconventional properties of miRNAs, we explore the protein-coding competing endogenous RNA (ceRNA) and the modulatory networks in PTC and unexpectedly disclose concerted regulation of immune responses from these networks. Interestingly, miRNAs from these conventional and unconventional networks share general similarities and differences but tend to be disparate as regulatory activities increase, coordinately tuning the immune responses that in part account for PTC tumor biology. Together, our systematic results uncover the intensive regulation of immune responses underlain by miRNA-mediated networks in PTC, opening up new avenues in the management of thyroid cancer.

  19. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

    Science.gov (United States)

    Da Costa, Lydie; Galimand, Julie; Fenneteau, Odile; Mohandas, Narla

    2013-07-01

    Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease severity is primarily dependent on the extent of membrane surface area loss. Both these diseases can be readily diagnosed by various laboratory approaches that include red blood cell cytology, flow cytometry, ektacytometry, electrophoresis of the red cell membrane proteins, and mutational analysis of gene encoding red cell membrane proteins.

  20. A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.

    Science.gov (United States)

    Lee, Min Jae; Chang, Yoon Hwan; Kang, Seung Hwa; Mun, Se Kwon; Kim, Heyjin; Han, Chul Ju; Kim, Jin; Kang, Hye Jin

    2013-03-25

    We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.

  1. Anaesthetic management of a patient with hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Nergis Ataol

    2015-12-01

    Full Text Available Hereditary angioedema is a rare autosomal dominant disorder caused by reduced activity of the C1 esterase inhibitor. Patients with hereditary angioedema are clinically characterized by recurrent episodes of swelling of the extremities, face, trunk, airways and abdominal organs. Attacks may occur either spontaneously or following trauma, stress, surgery, infections and hormonal fluctuations. The most common cause of death is asphyxia related to laryngeal edema. Giving C1 esterase inhibitor is the most effective method of treatment. Also fresh frozen plasma, androgen steroids, quinine pathway inhibitors, antifibrinolytics and bradykinin receptor antagonists can be used as treatment. In this paper, the anesthetic management of a patient with hereditary angioedema undergoing inguinal hernia repair surgery is reported.

  2. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

    Directory of Open Access Journals (Sweden)

    Luciano Mesquita Simão

    2012-08-01

    Full Text Available Neuromyelitis optica antibody (or aquaporin-4 antibody is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  3. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report.

    Science.gov (United States)

    Simão, Luciano Mesquita

    2012-01-01

    Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well established serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  4. Characteristic modules and tensor products over quasi-hereditary algebras

    Institute of Scientific and Technical Information of China (English)

    Yue-hui ZHANG; Shi-ying SHEN; Ping-kai YE

    2007-01-01

    Let A be a monomial quasi-hereditary algebra with a pure strong exact Borel subalgebra B. It is proved that the category of induced good modules over B is contained in the category of good modules over A; that the characteristic module of A is an induced module of that of B via the exact functor - (×)B A if and only if the induced A-module of an injective B-module remains injective as a B-module. Moreover, it is shown that an exact Borel subalgebra of a basic quasi-hereditary serial algebra is right serial and that the characteristic module of a basic quasi-hereditary serial algebra is exactly the induced module of that of its exact Borel subalgebra.

  5. Characteristic modules and tensor products over quasi-hereditary algebras

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Let A be a monomial quasi-hereditary algebra with a pure strong exact Borel subalgebra B.It is proved that the category of induced good modules over B is contained in the category of good modules over A;that the characteristic module of A is an induced module of that of B via the exact functor-(?)_B A if and only if the induced A-module of an injective B-module remains injective as a B-module.Moreover,it is shown that an exact Borel subalgebra of a basic quasi-hereditary serial algebra is right serial and that the characteristic module of a basic quasi-hereditary serial algebra is exactly the induced module of that of its exact Borel subalgebra.

  6. Hereditary stomatocytosis: First case report from Valley of Kashmir

    Directory of Open Access Journals (Sweden)

    Javid Rasool

    2015-01-01

    Full Text Available Stomatocytes are erythrocytes with a central slit or mouth-shaped (stoma area of central pallor when examined on dried smears. In wet preparations, they are uniconcave rather than biconcave, giving them a bowllike appearance. In vitro, stomatocytes are produced by drugs that intercalate into the inner half of the lipid bilayer, thereby expanding the inner lipid surface area relative to that of the outer half of the bilayer. Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the red cell membrane. We present the first case report of hereditary stomatocytosis in a 10-year-old male from the valley of Kashmir. Only eight families with this condition have been described worldwide.

  7. Principally Left Hereditary and Principally Left Strong Radicals

    Institute of Scientific and Technical Information of China (English)

    S. Tumurbat; R. Wiegandt

    2001-01-01

    A radical γ is normal if and only if γ is principally left hereditary and principally left strong (i.e., γ(L) = L e A and Lz ∈γ for all z ∈ L imply L γ(A)). Let a radical γ satisfy that A°∈γ and S° A° imply S°∈γ.Then γ is a hereditary normal radical if and only if γ is principally left strong and γ {A | (A, +,◇a) ∈γ a ∈ A}, where the multiplication ◇a is defined by x ◇a y = xay. The Behrens radical class B is the largest principally left hereditary subclass of the Brown-McCoy radical class G. Neither3 nor G is principally left strong.

  8. Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer

    Directory of Open Access Journals (Sweden)

    Kolling-Dandrieu Francisca

    2004-08-01

    Full Text Available Abstract This paper discusses the presentation I held at the symposium on genetics during the 4th European Breast Cancer Conference held in Hamburg in March 2004. Primarily, the goals and working methods of the advocacy group specialised in Hereditary Breast/Ovarian Cancer of the Dutch Breast Cancer Patient Organisation known as BorstkankerVereniging Nederland (BVN are explained. Furthermore, some specific individual problems that mutation carriers might encounter before and after BRCA1/2 susceptibility testing are discussed. These include: dilemmas in choosing preventive interventions, dealing with the psychological impact of knowing you are a mutation carrier, dealing with the social implications of being genetically at risk, an example of insurance discrimination. In addition, some controversial social and ethical issues that are currently under debate are highlighted, such as the issue of the European patenting of the breast cancer susceptibility genes BRCA1 and BRCA2. Since this topic could also become relevant for other gene-related diseases, society as a whole has to consider the ethical and social implications related to the patenting of human genes in general. Another ethical area of debate is the controversial issue of prenatal BRCA testing and the choice of pregnancy termination. Finally, the Working Party pleads for the international co-operation and exchange of data and experience among professionals as well as patients. It appears that professionals in different European countries tend to advise on different risk management strategies and treatments and as such, the Working Party strongly advocates the international standardisation of risk management and treatment of mutation carriers. In this respect, specific attention should be given to a group that has had a non-informative or negative BRCA test result, because this group is still considered to be at high risk to develop the disease.

  9. C-reactive protein levels in hereditary angioedema.

    Science.gov (United States)

    Hofman, Z L M; Relan, A; Hack, C E

    2014-07-01

    Hereditary angioedema (HAE) patients experience recurrent episodes of angioedema attacks that can be painful, disfiguring and even life-threatening. The disorder results from a mutation in the gene that controls the synthesis of C1-inhibitor (C1INH). C1INH is a major regulator of activation of the contact system. It is often assumed that attacks results from uncontrolled local activation of the contact system with subsequent formation of bradykinin. To evaluate the involvement of inflammatory reactions in HAE, we analysed C-reactive protein (CRP) levels. HAE patients included in a clinical database of recombinant human C1-inhibitor (rhC1INH) studies were evaluated. For the current study we analysed CRP levels when patients were asymptomatic, during a clinical attack and in a follow-up period, and correlated these with the clinical manifestations of the attack. Data from 68 HAE patients were analysed and included CRP levels on 273 occasions. While asymptomatic, 20% of the patients analysed had increased CRP. At the onset of the attack (P = 0·049) and during the next 24 h CRP rose significantly (P = 0·002) in patients with an abdominal location, and post-attack levels were significantly higher in these patients than in patients with attacks at other locations (P = 0·034). In conclusion, CRP levels are elevated in a substantial proportion of asymptomatic HAE patients. Levels of CRP increase significantly during an abdominal attack. These data suggest low-grade systemic inflammatory reactions in HAE patients as well as a triggering event for attacks that starts prior to symptom onset.

  10. Hereditary Gigantism-the biblical giant Goliath and his brothers.

    Science.gov (United States)

    Donnelly, Deirdre E; Morrison, Patrick J

    2014-05-01

    The biblical giant Goliath has an identifiable family tree suggestive of autosomal dominant inheritance. We suggest that he had a hereditary pituitary disorder possibly due to the AIP gene, causing early onset and familial acromegaly or gigantism. We comment on the evidence within the scriptures for his other relatives including a relative with six digits and speculate on possible causes of the six digits. Recognition of a hereditary pituitary disorder in the biblical Goliath and his family sheds additional information on his and other family members' battles with David and his relatives.

  11. Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).

    Science.gov (United States)

    Bardou-Jacquet, Edouard; Brissot, Pierre

    2014-08-01

    The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mutation), type 3 (related to TFR2 mutation), and type 4 (A and B, ferroportin disease). The diagnostic evaluation relies on comprehension of the involved pathophysiologic defect, and careful characterization of the phenotype, which gives clues to guide appropriate genetic testing.

  12. Hereditary benign telangiectasia without family history in China

    Institute of Scientific and Technical Information of China (English)

    CAI Lin; SUN Qing-miao; ZANG Dong-jie; ZHANG Jian-zhong

    2011-01-01

    A case of hereditary benign telangiectasia without family history was reported. A 39-year-old woman presented with small and tiny telangiectases on the face, neck, upper trunk and forearms at birth. The numbers and sizes of the lesions increased gradually and she had no hemorrhagic diathesis and systemic diseases. No similar patients were found in her family. Upon physical examination, telangiectases were found on the face, neck, upper trunk and forearms; and a telangiectatic erythema was found on the right forearm 25 mm ×40 mm in size. Histopathology examination showed a normal epidermis and dilation of the capillaries at upper dermis. Hereditary benign telangiectasia without family history was diagnosed.

  13. [Hereditary hemachromatosis: clinical case report and literature review].

    Science.gov (United States)

    Prochazka, Ricardo; Tagle, Martín

    2006-01-01

    Hemachromatosis is a hereditary condition, producing progressive iron overload as a result of the mutation in proteins that regulate intestinal iron absorption. It is a systemic disease with several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease and a proportion of asymptomatic patients. When it is diagnosed and treatment with phlebotomies is initiated before any organ damage is developed, the prognosis is very good, with normal survival free of manifestations. This condition is common in European populations. We report the case of a Peruvian patient of European ancestry who is asymptomatic, but has high levels of aminotransferases and elevated iron markers. Genetic testing confirmed the patient's diagnosis of hereditary hemachromatosis.

  14. The molecular basis of hereditary fructose intolerance in Italian children.

    Science.gov (United States)

    Santamaria, R; Scarano, M I; Esposito, G; Chiandetti, L; Izzo, P; Salvatore, F

    1993-10-01

    We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MD delta 4 previously described only in one British family, which may be an important cause of the disease in Italy.

  15. The optic nerve head in hereditary optic neuropathies.

    Science.gov (United States)

    O'Neill, Evelyn C; Mackey, David A; Connell, Paul P; Hewitt, Alex W; Danesh-Meyer, Helen V; Crowston, Jonathan G

    2009-05-01

    Hereditary optic neuropathies are a prominent cause of blindness in both children and adults. The disorders in this group share many overlapping clinical characteristics, including morphological changes that occur at the optic nerve head. Accurate and prompt clinical diagnosis, supplemented with imaging when indicated, is essential for optimum management of the relevant optic neuropathy and appropriate counseling of the patient on its natural history. Patient history, visual field assessment, optic disc findings and imaging are the cornerstones of a correct diagnosis. This Review highlights the characteristic optic nerve head features that are common to the various hereditary optic neuropathies, and describes the features that enable the conditions to be differentiated.

  16. [Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].

    Science.gov (United States)

    Cheng, Xiao-Hui; Tu, Chuan-Qing; Sun, Shun-Chang; Li, Jan-Yun; Zhang, Xu-Yan; Wang, Dian-Wen; Huang, Can

    2015-08-01

    To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree. 14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing. A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene. The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.

  17. Neuron specific enolase demonstration in the diagnosis of a solid-cystic (papillary cystic) tumour of the pancreas.

    Science.gov (United States)

    Chott, A; Klöppel, G; Buxbaum, P; Heitz, P U

    1987-01-01

    Immunoreactivity to neuron specific enolase (NSE) was demonstrated in a solid-cystic (papillary cystic) tumour of the human pancreas, employing immunohistochemical methods. Positive staining for NSE was found with two different antisera. In addition, sodium-dodecyl-sulphate-polyacrylamide-gel-electro-phoresis (SDS-PAGE) of tumour homogenate revealed a distinct band reacting with a NSE antiserum. However, we failed to detect any hormonal products or neuroendocrine granules in the tumour. Therefore the authors advise caution in using the enzyme as a differential diagnostic tool, especially in surgical pathology of epithelial pancreatic neoplasms occurring in young females. In individual cases electron microscopy will be necessary since solid-cystic tumours of the pancreas consistently show large intracytoplasmic zymogen-like granules.

  18. Renal papillary necrosis in patients with sickle cell disease: How to recognize this 'forgotten' diagnosis.

    Science.gov (United States)

    Henderickx, Michaël M E L; Brits, Tim; De Baets, Karen; Seghers, Mattias; Maes, Philip; Trouet, Dominique; De Wachter, Stefan; De Win, Gunter

    2017-06-01

    Renal papillary necrosis is not commonly seen in daily practice, but can have severe consequences when it is not diagnosed in time. It is known to be associated with sickle cell hemoglobinopathies; however a wide range of etiologies are possible, and it is therefore not the first diagnosis clinicians consider in patients with sickle cell disease who present with hematuria. A literature search was performed to summarize the current knowledge about renal papillary necrosis associated with sickle cell disease. These findings are illustrated with a case of a 9-year old girl with sickle cell disease who was referred with painless gross hematuria. Typical radiologic signs for renal papillary necrosis are necrotic cavities that fill with contrast, small collections of contrast peripheral to the calyces in the papillary region (ball-on-tee sign), calcification of the papillary defect, filling defects, hydronephrosis, blunted papillary tip, clefts in the renal medulla filled with contrast, hyperattenuated medullary calcifications, non-enhanced lesions surrounded by rings of excreted contrast, and clubbed calyces. This study focuses on the pathophysiology of renal papillary necrosis associated with sickle cell disease, the possible symptoms, as well as the diagnostic steps, with a special interest in particular presentation on old (retrograde pyelography) and new (computed tomography) gold standard in radiologic imaging, and the management for this pathology. This study aims to remind clinicians of this "forgotten" diagnosis and what signs to look for in pediatric patients with sickle cell disease who present with hematuria. In pediatric cases radiation protection is important, therefore knowing what radiologic signs can be found on retrograde pyelography can lead to early identification of this pathology without having to proceed to computed tomography. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  19. Difference of the Nuclear Green Light Intensity between Papillary Carcinoma Cells Showing Clear Nuclei and Non-neoplastic Follicular Epithelia in Papillary Thyroid Carcinoma

    Science.gov (United States)

    Lee, Hyekyung; Baek, Tae Hwa; Park, Meeja; Lee, Seung Yun; Son, Hyun Jin; Kang, Dong Wook; Kim, Joo Heon; Kim, Soo Young

    2016-01-01

    Background There is subjective disagreement regarding nuclear clearing in papillary thyroid carcinoma. In this study, using digital instruments, we were able to quantify many ambiguous pathologic features and use numeric data to express our findings. Methods We examined 30 papillary thyroid carcinomas. For each case, we selected representative cancer cells showing clear nuclei and surrounding non-neoplastic follicular epithelial cells and evaluated objective values of green light intensity (GLI) for quantitative analysis of nuclear clearing in papillary thyroid carcinoma. Results From 16,274 GLI values from 600 cancer cell nuclei and 13,752 GLI values from 596 non-neoplastic follicular epithelial nuclei, we found a high correlation of 94.9% between GLI and clear nuclei. GLI between the cancer group showing clear nuclei and non-neoplastic follicular epithelia was statistically significant. The overall average level of GLI in the cancer group was over two times higher than the non-neoplastic group despite a wide range of GLI. On a polygonal line graph, there was a fluctuating unique difference between both the cancer and non-neoplastic groups in each patient, which was comparable to the microscopic findings. Conclusions Nuclear GLI could be a useful factor for discriminating between carcinoma cells showing clear nuclei and non-neoplastic follicular epithelia in papillary thyroid carcinoma. PMID:27550048

  20. The diagnosis of hereditary fructose intolerance.

    Science.gov (United States)

    Steinmann, B; Gitzelmann, R

    1981-09-01

    Hereditary fructose intolerance (HFI) is a potentially life-threatening disorder and can be suspected from a detailed nutritional history. The usefulness of 2 diagnostic procedures, fructose tolerance test (FTT) and aldolase assay on biopsied liver, was studied. A standardized intravenous FTT with 200 mg/kg b.w. was done on 11 children with HFI, 17 age-matched contrast children, 6 adults with HFI and 6 adult controls. Blood glucose, phosphorus, urate, magnesium and fructose were followed for 2 hours. By the FTT, each HFI individual was reliably distinguished from controls and contrasts and even from those with acute liver disease other than HFI. Both children with non-HFI hepatopathy examined by both procedures had a normal FTT in spite of reduced liver fructaldolase activity. HFI children responded to the FTT by earlier and more pronounced hypoglycemia than adults, and one girl converted to an adult type response between the ages 12 and 181/2 years. Responses of two HFI sibling pairs and of one set of monozygotic twins were typical for age, but resemblance was no greater than within the unrelated HFI probands. The intravenous FTT is judged a reliable diagnostic tool, simple and harmless if done in hospital. Essential fructosuria is readily diagnosed by the FTT, but fructose-1,6-diphosphatase deficiency and HFI are not differentiated with certainty. Liver biopsies were obtained from 35 children with HFI, 14 contrast persons and 10 controls (of which 9 organ donors) and examined enzymatically. Deficiency of fructaldolase was observed in all HFI children but also in some contrast children suffering from acute liver disease other than HFI. In these, HFI could only be excluded when the reduced activity of reference enzymes such as fructose-1,6-diphosphatase and glucose-6-phosphatase and liver histology were included in the evaluation. In one deceased HFI infant, fructaldolase was deficient in both, liver and kidney cortex. Extent of antibody activation and of heat

  1. Cistoadenoma papilar de epidídimo: a propósito de un caso Papillary cystadenoma of the epididymis: a case report

    Directory of Open Access Journals (Sweden)

    Daniela Stoisa

    2012-12-01

    males and it may be unilateral or bilateral (one third of cases as well as sporadic or hereditary related to von Hippel-Lindau disease (especially bilateral lesions. The diagnosis is made by physical examination and diagnostic imaging (ultrasound and magnetic resonance imaging. Histologically, it is characterized by cystic spaces with internal papillary projections lined by clear cells similar to those of renal cell carcinoma (RCC. Differentiation between papillary cystadenoma of the epididymis and renal cell carcinoma is made by immunohisto-chemical markers. Treatment consists in surgical excision and subsequent follow-up, since, and although, its excellent prognosis, malignant transformation have been reported.

  2. RAMAN spectroscopy imaging improves the diagnosis of papillary thyroid carcinoma

    Science.gov (United States)

    Rau, Julietta V.; Graziani, Valerio; Fosca, Marco; Taffon, Chiara; Rocchia, Massimiliano; Crucitti, Pierfilippo; Pozzilli, Paolo; Onetti Muda, Andrea; Caricato, Marco; Crescenzi, Anna

    2016-10-01

    Recent investigations strongly suggest that Raman spectroscopy (RS) can be used as a clinical tool in cancer diagnosis to improve diagnostic accuracy. In this study, we evaluated the efficiency of Raman imaging microscopy to discriminate between healthy and neoplastic thyroid tissue, by analyzing main variants of Papillary Thyroid Carcinoma (PTC), the most common type of thyroid cancer. We performed Raman imaging of large tissue areas (from 100 × 100 μm2 up to 1 × 1 mm2), collecting 38 maps containing about 9000 Raman spectra. Multivariate statistical methods, including Linear Discriminant Analysis (LDA), were applied to translate Raman spectra differences between healthy and PTC tissues into diagnostically useful information for a reliable tissue classification. Our study is the first demonstration of specific biochemical features of the PTC profile, characterized by significant presence of carotenoids with respect to the healthy tissue. Moreover, this is the first evidence of Raman spectra differentiation between classical and follicular variant of PTC, discriminated by LDA with high efficiency. The combined histological and Raman microscopy analyses allow clear-cut integration of morphological and biochemical observations, with dramatic improvement of efficiency and reliability in the differential diagnosis of neoplastic thyroid nodules, paving the way to integrative findings for tumorigenesis and novel therapeutic strategies.

  3. Oral papillary squamous cell carcinoma in twelve dogs.

    Science.gov (United States)

    Nemec, A; Murphy, B G; Jordan, R C; Kass, P H; Verstraete, F J M

    2014-01-01

    Papillary squamous cell carcinoma (PSCC) is a distinct histological subtype of oral squamous cell carcinoma (SCC), described in both dogs and man. In dogs, PSCC has long been considered a malignant oral tumour of very young animals, but it has recently been reported to occur in adult dogs as well. The aim of this study was to describe the major clinicopathological characteristics of canine oral PSCC (COPSCC). Twelve dogs diagnosed with COPSCC were included in this retrospective study (1990-2012). The majority (75%) of the dogs were >6 years of age (median age 9 years). All tumours were derived from the gingiva of dentate jaws, with 66.7% affecting the rostral aspects of the jaws. The gross appearance of the lesions varied, with one having an intraosseous component only. The majority (91.7%) of the tumours were advanced lesions (T2 and T3), but no local or distant metastases were noted. Microscopically, two patterns were seen: (1) invasion of bone forming a cup-shaped indentation in the bone or a deeply cavitating cyst within the bone (cavitating pattern), (2) histologically malignant growth, but lack of apparent bone invasion (non-cavitating pattern). The microscopical appearance corresponded to imaging findings in a majority of cases, with cavitating forms presenting with a cyst-like pattern of bone loss or an expansile mass on imaging and non-cavitating forms showing an infiltrative pattern of bone destruction on imaging. These features suggest two distinct biological behaviours of COPSCC.

  4. RAMAN spectroscopy imaging improves the diagnosis of papillary thyroid carcinoma

    Science.gov (United States)

    Rau, Julietta V.; Graziani, Valerio; Fosca, Marco; Taffon, Chiara; Rocchia, Massimiliano; Crucitti, Pierfilippo; Pozzilli, Paolo; Onetti Muda, Andrea; Caricato, Marco; Crescenzi, Anna

    2016-01-01

    Recent investigations strongly suggest that Raman spectroscopy (RS) can be used as a clinical tool in cancer diagnosis to improve diagnostic accuracy. In this study, we evaluated the efficiency of Raman imaging microscopy to discriminate between healthy and neoplastic thyroid tissue, by analyzing main variants of Papillary Thyroid Carcinoma (PTC), the most common type of thyroid cancer. We performed Raman imaging of large tissue areas (from 100 × 100 μm2 up to 1 × 1 mm2), collecting 38 maps containing about 9000 Raman spectra. Multivariate statistical methods, including Linear Discriminant Analysis (LDA), were applied to translate Raman spectra differences between healthy and PTC tissues into diagnostically useful information for a reliable tissue classification. Our study is the first demonstration of specific biochemical features of the PTC profile, characterized by significant presence of carotenoids with respect to the healthy tissue. Moreover, this is the first evidence of Raman spectra differentiation between classical and follicular variant of PTC, discriminated by LDA with high efficiency. The combined histological and Raman microscopy analyses allow clear-cut integration of morphological and biochemical observations, with dramatic improvement of efficiency and reliability in the differential diagnosis of neoplastic thyroid nodules, paving the way to integrative findings for tumorigenesis and novel therapeutic strategies. PMID:27725756

  5. Hashimoto's thyroiditis predicts outcome in intrathyroidal papillary thyroid cancer.

    Science.gov (United States)

    Marotta, Vincenzo; Sciammarella, Concetta; Chiofalo, Maria Grazia; Gambardella, Claudio; Bellevicine, Claudio; Grasso, Marica; Conzo, Giovanni; Docimo, Giovanni; Botti, Gerardo; Losito, Simona; Troncone, Giancarlo; De Palma, Maurizio; Giacomelli, Laura; Pezzullo, Luciano; Colao, Annamaria; Faggiano, Antongiulio

    2017-09-01

    Hashimoto's thyroiditis (HT) seems to have favourable prognostic impact on papillary thyroid cancer (PTC), but data were obtained analysing all disease stages. Given that HT-related microenvironment involves solely the thyroid, we aimed to assess the relationship between HT, as detected through pathological assessment, and outcome in intrathyroidal PTC. This was a multicentre, retrospective, observational study including 301 PTC with no evidence of extrathyroidal disease. Primary study endpoint was the rate of clinical remission. Auxiliary endpoint was recurrence-free survival (RFS). HT was detected in 42.5% of the cohort and was associated to female gender, smaller tumour size, lower rate of aggressive PTC variants and less frequent post-surgery radio-iodine administration. HT showed relationship with significantly higher rate of clinical remission (P disease outcome at univariate analysis (age at diagnosis, histology, tumour size and multifocality), prognostic effect of HT remained significant (P = 0.006, OR 3.28, 95% CI 1.39-7.72). To verify whether HT could optimise the identification of PTCs with unfavourable outcome, we assessed the accuracy of 'non-HT status' as negative prognostic marker, demonstrating poor capability of identifying patients not maintaining clinical remission until final follow-up (probability of no clinical remission in PTCs without HT: 21.05%, 95% CI 15.20-27.93). In conclusion, our data show that HT represents an independent prognostic parameter in intrathyroidal PTC, but cannot improve prognostic specificity. © 2017 Society for Endocrinology.

  6. ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma.

    Science.gov (United States)

    Brastianos, Priscilla K; Santagata, Sandro

    2016-04-01

    Papillary craniopharyngioma (PCP) is an intracranial tumor that results in high levels of morbidity. We recently demonstrated that the vast majority of these tumors harbor the oncogenic BRAF V600E mutation. The pathologic diagnosis of PCP can now be confirmed using mutation specific immunohistochemistry and targeted genetic testing. Treatment with targeted agents is now also a possibility in select situations. We recently reported a patient with a multiply recurrent PCP in whom targeting both BRAF and MEK resulted in a dramatic therapeutic response with a marked anti-tumor immune response. This work shows that activation of the MAPK pathway is the likely principal oncogenic driver of these tumors. We will now investigate the efficacy of this approach in a multicenter phase II clinical trial. Post-treatment resection samples will be monitored for the emergence of resistance mechanisms. Further advances in the non-invasive diagnosis of PCP by radiologic criteria and by cell-free DNA testing could someday allow neo-adjuvant therapy for this disease in select patient populations.

  7. Sonographic and cytopathologic correlation of papillary thyroid carcinoma variants.

    Science.gov (United States)

    Lee, Ji Hyun; Shin, Jung Hee; Lee, Hyun-Woo; Oh, Young Lyun; Hahn, Soo Yeon; Ko, Eun Young

    2015-01-01

    Papillary thyroid carcinoma (PTC) is the most common thyroid cancer and constitutes more than 70% of thyroid malignancies. Although TNM staging is the most widely used parameter for determination of therapeutic plans, recent studies have suggested that different histopathologic variants of PTC can also have different clinical courses and patient prognoses. Sonographic criteria for PTC are well established and include a taller-than-wide shape, an irregular margin, microcalcifications, and marked hypoechogenicity. The role of sonography has expanded to enable the characterization of PTC variants based on their sonographic features. Tall cell and diffuse sclerosing variants appear to have more aggressive clinical courses with unfavorable prognoses, whereas the more recently described cribriform-morular and Warthin-like variants have relatively indolent clinical courses. The prognoses of patients with follicular, solid, columnar cell, and oncocytic variants are still controversial and may be similar to the prognosis of conventional PTC. Understanding the sonographic characteristics of PTC variants with clinicopathologic correlation may be helpful for suggesting an appropriate treatment plan.

  8. Video-Assisted Thyroidectomy for Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Celestino Pio Lombardi

    2010-01-01

    Full Text Available Background. The results of video-assisted thyroidectomy (VAT were evaluated in a large series of patients with papillary thyroid carcinoma (PTC, especially in terms of completeness of the surgical resection and short-to-medium term recurrence. Methods. The medical records of all patients who underwent video-assisted thyroidectomy for PTC between June 1998 and May 2009 were reviewed. Results. Three hundred fifty-nine patients were included. One hundred twenty-six patients underwent concomitant central neck node removal. Final histology showed 285 pT1, 26 pT2, and 48 pT3 PTC. Lymph node metastases were found in 27 cases. Follow-up was completed in 315 patients. Mean postoperative serum thyroglobulin level off levothyroxine was 5.4 ng/mL. Post operative ultrasonography showed no residual thyroid tissue in all the patients. Mean post-operative 131I uptake was 1.7%. One patient developed lateral neck recurrence. No other recurrence was observed.

  9. What is the Minimal Surgery for Papillary Thyroid Carcinoma?

    Directory of Open Access Journals (Sweden)

    Eran Fridman

    2016-01-01

    Full Text Available Although thyroid surgery for treatment of papillary thyroid carcinoma (PTC has been practiced for more than 100 years, there is still controversy regarding the minimal surgery needed for cure. The main reason for this controversy is lack of prospective randomized trials. The data accumulated in the last four decades indicate that hemithyroidectomy can be sufficient and safely practiced in low-risk patients with PTC. Patients <45 years of age with a single tumor less than 2 cm, with no lymphatic spread, and in the absence of other risk factors, can be equally managed by hemithyroidectomy or total thyroidectomy. A slight increase in the risk of vocal cord paralysis and hypocalcemia after total thyroidectomy suggests that hemithyroidectomy is appropriate for the management of patients with stage T1 disease. Any choice regarding the extent of surgery should be made with the patient and his family and in a multidisciplinary setup, which has been shown to improve decision-making procedures before the operation and during follow-up.

  10. Simultaneous medullary and papillary thyroid cancer: two case reports

    Directory of Open Access Journals (Sweden)

    Dionigi Gianlorenzo

    2007-11-01

    Full Text Available Abstract Background Papillary thyroid carcinoma (PTC and medullary thyroid carcinoma (MTC have always been considered different from each other; in their incidence, their cell origin and their histopathological features. Case presentation This paper describes two rare cases of the simultaneous occurrence of MTC and PTC in the thyroid gland. Case 1 is unique for different reasons: (a the patient was affected by both multicentric MTC and PTC; (b a "composite thyroid carcinoma" with mixed feautures of MTC and PTC carcinomas was found in the istmus of the gland; and (c these tumors were associated with diffuse lymphocytic-type thyroiditis (LT. Case 2 is notable for the long follow up: 16 years disease free. Conclusion There are only 16 reports in the English medical literature describing a total of 20 cases of concurrent occurrence of both PTC and MTC in the same thyroid gland. We discuss whether the finding of another cancer in these patients was coincidental or from possible activation of a common tumorigenic pathway for both follicular and parafollicular thyroid cells.

  11. Verrucous Papillary Lesions: Dilemmas in Diagnosis and Terminology

    Science.gov (United States)

    Kallarakkal, Thomas George; Zain, Rosnah Binti

    2013-01-01

    Verrucous papillary lesions (VPLs) of oral cavity are diagnostically challenging as they include a spectrum of benign, potentially malignant, and frankly malignant lesions. A majority of the benign VPLs have viral aetiology and include commonly occurring squamous papilloma along with verruca vulgaris, focal epithelial hyperplasia, and condyloma. Current understanding of potentially malignant VPLs is perplexing and is primarily attributed to the use of confusing and unsatisfactory terminology. Clinically and histologically oral verrucous hyperplasia, a potentially malignant disorder, resembles oral verrucous carcinoma and may be indistinguishable from one another. The most reliable way to separate these entities on routine haematoxylin-eosin stained tissue sections is to recognize the exophytic growth patterns of oral verrucous hyperplasia from the combined exophytic and endophytic growth patterns associated with verrucous carcinoma. A review of the literature showed that there is a lot of confusion regarding the current clinical and histopathological guidelines to diagnose this potentially malignant entity. The criteria elaborated by different authors in establishing the diagnosis of oral verrucous hyperplasia are discussed in detail. A brief overview of the treatment modalities adopted is also discussed. The need for establishing a clear understanding of this potentially malignant entity is stressed as it may have far reaching implications on its management. PMID:24223590

  12. Serum calprotectin: a new potential biomarker for thyroid papillary carcinoma.

    Science.gov (United States)

    Tabur, S; Korkmaz, H; Özkaya, M; Elboğa, U; Tarakçıoglu, M; Aksoy, N; Akarsu, E

    2015-09-01

    The aim of this study was to evaluate serum calprotectin levels and oxidative stress status in patients with papillary thyroid carcinoma (PTC) and the changes in their levels after total thyroidectomy. The study involved 30 patients with PTC and 30 healthy controls. Blood samples were obtained from the PTC patients before and 1 month after the operation. Preoperative and postoperative serum samples from PTC patients and healthy controls were analysed for calprotectin, total antioxidant status (TAS), total oxidant status (TOS) and lipid hydroperokside (LOOH). The preoperative calprotectin, TOS, OSI and LOOH levels of the patients with PTC were significantly higher compared to those of the control group (p calprotectin decreased significantly in patients with PTC after the operation (p calprotectin levels were positively correlated with TOS, OSI and LOOH levels and negatively correlated with TAS levels in patients with PTC. In conclusion, serum calprotectin levels is increased in patients with PTC, and calprotectin is positively correlated with TOS and LOOH. Serum calprotectin levels is significantly decreased after total thyroidectomy.

  13. Electrochemotherapy as palliative treatment in patients with thyroid papillary carcinoma

    Directory of Open Access Journals (Sweden)

    Juan José Grau

    Full Text Available ABSTRACT INTRODUCTION: Local progression of papillary thyroid carcinoma (PTC after failure of standard therapies may cause pain, ulceration, and bleeding. As patients are fully aware of the tumor growth, they might suffer high grade anxiety. Electrochemotherapy (ECT is a new local palliative treatment for skin metastases of malignant melanoma or other tumors, including squamous head e neck cancer patients. OBJECTIVE: To evaluate the impact of ECT in patients with local progression of PTC. METHODS: Four patients with local progression of PTC were treated with ECT based on Bleomycin, and evaluated according to tumor response, local pain and side effects. RESULTS: In all cases, some grade of tumor response was observed, lasting 6, 7, 12 and 8 months, respectively. Also, reduction of local pain and anxiety was registered in all patients. Tumor infiltrated skin necrosis was the only collateral effect of the treatment. ECT induced a tumor response in all PTC patients with improvement of symptoms. CONCLUSIONS: ECT may be an option for local palliative treatment in PTC patients with local tumor progression.

  14. Tubulocystic carcinoma of kidney associated with papillary renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Mahesh Deshmukh

    2011-01-01

    Full Text Available Tubulocystic renal cell carcinoma (TCRCC is a rare variant of renal cell carcinoma, which has distinct histology but there is some controversy about its association with papillary renal cell carcinoma (PRCC and cell of origin in literature. We report an 18-year-old girl with the rare TCRCC of kidney associated with PRCC with metastases to the para-aortic nodes. The patient presented with hematuria and a right renal mass with enlarged regional nodes for which a radical nephrectomy with retroperitoneal lymph node dissection was done. On gross examination, a solid cystic lesion involving the lower pole and middle pole of the kidney measuring 12x9x9 cm was seen along with an additional cystic lesion in upper pole of kidney. Microscopically the main tumor showed the typical histology of a tubulocystic carcinoma with multiple cysts filled with secretions lined by variably flattened epithelium with hobnailing of cells. The mass in the upper pole was a high-grade PRCC and the nodal metastases had morphology similar to this component. To conclude, at least a small but definite subset of TCRCC is associated with PRCC, and cases associated with PRCC do seem to have a higher propensity for nodal metastasis as in the case we report.

  15. Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate.

    Science.gov (United States)

    Rakheja, Dinesh; Boriack, Richard L; Mitui, Midori; Khokhar, Shama; Holt, Shelby A; Kapur, Payal

    2011-04-01

    Elevated levels of D: -2-hydroxyglutarate (D: -2-HG) occur in gliomas and myeloid leukemias associated with mutations of IDH1 and IDH2. L: -2-Hydroxyglutaric aciduria, an inherited metabolic disorder, predisposes to brain tumors. Therefore, we asked whether sporadic cancers, without IDH1 or IDH2 hot-spot mutations, show elevated 2-hydroxyglutarate levels. We retrieved 15 pairs of frozen papillary thyroid carcinoma (PTC) and adjacent non-neoplastic thyroid, and 14 pairs of hyperplastic nodule (HN) and adjacent non-hyperplastic thyroid. In all lesions, exon 4 sequencing confirmed the absence of known mutations of IDH1 and IDH2. We measured 2-hydroxyglutarate by liquid chromatography-tandem mass spectrometry. Compared to normal thyroid, PTCs had significantly higher D: -2-HG and L: -2-hydroxyglutarate (L: -2-HG) levels, and compared to HNs, PTCs had significantly higher D: -2-HG levels. D: -2-HG/L: -2-HG levels were not significantly different between HNs and normal thyroid. Further studies should clarify if elevated 2-hydroxyglutarate in PTC may be useful as cancer biomarker and evaluate the role of 2-hydroxyglutarate in cancer biology.

  16. Upregulation of glucosylceramide synthase protein in papillary thyroid carcinoma

    Institute of Scientific and Technical Information of China (English)

    ZHANG Ke; SONG Ying-hua; LIN Xiao-yan; WANG Qiang-xiu; ZHANG Hua-wei; XU Jia-wen

    2013-01-01

    Background Glucosylceramide synthase (GCS) can reduce ceramide levels and help cells escape ceramide-induced apoptosis,thus leading to multidrug resistance (MDR).However,its expression and clinical significance in thyroid neoplasms still remain unclear.We aimed to elucidate the expression of GCS and explore its correlation with the clinicopathological characteristics in papillary thyroid carcinomas (PTCs).Methods We retrospectively investigated GCS protein expression level in tissue specimens obtained from 108 consecutive PTC patients by immunohistochemistry and Western blotting.Results GCS was weakly positive or negative in normal follicular cells,but it was frequently overexpressed in PTC cells.GCS overexpression was associated with primary tumor size,local infiltration,lymph node metastasis,and local recurrence,but not associated with gender,age,pathological variants,tumor multifocality,tumor stage or distant metastasis.Western blotting also showed that GCS protein levels were much higher in PTCs' tissues than in normal thyroid tissues.Conclusion GCS was upregulated in PTCs and might be an independent factor affecting prognosis.

  17. Verrucous papillary lesions: dilemmas in diagnosis and terminology.

    Science.gov (United States)

    Kallarakkal, Thomas George; Ramanathan, Anand; Zain, Rosnah Binti

    2013-01-01

    Verrucous papillary lesions (VPLs) of oral cavity are diagnostically challenging as they include a spectrum of benign, potentially malignant, and frankly malignant lesions. A majority of the benign VPLs have viral aetiology and include commonly occurring squamous papilloma along with verruca vulgaris, focal epithelial hyperplasia, and condyloma. Current understanding of potentially malignant VPLs is perplexing and is primarily attributed to the use of confusing and unsatisfactory terminology. Clinically and histologically oral verrucous hyperplasia, a potentially malignant disorder, resembles oral verrucous carcinoma and may be indistinguishable from one another. The most reliable way to separate these entities on routine haematoxylin-eosin stained tissue sections is to recognize the exophytic growth patterns of oral verrucous hyperplasia from the combined exophytic and endophytic growth patterns associated with verrucous carcinoma. A review of the literature showed that there is a lot of confusion regarding the current clinical and histopathological guidelines to diagnose this potentially malignant entity. The criteria elaborated by different authors in establishing the diagnosis of oral verrucous hyperplasia are discussed in detail. A brief overview of the treatment modalities adopted is also discussed. The need for establishing a clear understanding of this potentially malignant entity is stressed as it may have far reaching implications on its management.

  18. Verrucous Papillary Lesions: Dilemmas in Diagnosis and Terminology

    Directory of Open Access Journals (Sweden)

    Thomas George Kallarakkal

    2013-01-01

    Full Text Available Verrucous papillary lesions (VPLs of oral cavity are diagnostically challenging as they include a spectrum of benign, potentially malignant, and frankly malignant lesions. A majority of the benign VPLs have viral aetiology and include commonly occurring squamous papilloma along with verruca vulgaris, focal epithelial hyperplasia, and condyloma. Current understanding of potentially malignant VPLs is perplexing and is primarily attributed to the use of confusing and unsatisfactory terminology. Clinically and histologically oral verrucous hyperplasia, a potentially malignant disorder, resembles oral verrucous carcinoma and may be indistinguishable from one another. The most reliable way to separate these entities on routine haematoxylin-eosin stained tissue sections is to recognize the exophytic growth patterns of oral verrucous hyperplasia from the combined exophytic and endophytic growth patterns associated with verrucous carcinoma. A review of the literature showed that there is a lot of confusion regarding the current clinical and histopathological guidelines to diagnose this potentially malignant entity. The criteria elaborated by different authors in establishing the diagnosis of oral verrucous hyperplasia are discussed in detail. A brief overview of the treatment modalities adopted is also discussed. The need for establishing a clear understanding of this potentially malignant entity is stressed as it may have far reaching implications on its management.

  19. Papillary microcarcinomas of the thyroid gland and immunohistochemical analysis of expression of p53 protein in papillary microcarcinomas

    Directory of Open Access Journals (Sweden)

    Uysal Ali R

    2006-07-01

    Full Text Available Abstract Background Thyroid papillary microcarcinoma (TPM is defined according to WHO criteria as a thyroid tumor smaller than 1–1.5 cm. TPMs are encountered in 0.5–35.6 % of autopsies or surgical specimens where carcinoma had been unsuspected. The purpose of the present study was to evaluate patients who had TPMs in terms of clinical findings, histopathological features and immunohistochemical evidence of expression of the tumor suppressor gene p53. Methods A total of 44 patients with TPMs less than 1.0 cm in diameter were included in the study. The patients were evaluated clinically and the tumors were evaluated in terms of their histopathological and immunohistochemical features, including expression of p53. Results The female/male ratio was 2.8/1, and the median age at time of diagnosis was 49 years (range 20–71 years. The maximum diameter of the smallest focus was 0.1 mm, and that of the largest was 10 mm microscopically. The mean diameter of all tumors was 5.7 mm. There was no correlation between tumor size and age or gender. Of the TPMs, 72 % were found in the right lobe, 24 % in the left lobe and 4 % in the isthmus. Fine-needle aspiration biopsy provided the diagnosis of TPM in only 43.2 % of the patients. All patients were treated with surgery, with 20 undergoing conservative surgery, i.e. lobectomy or isthmusectomy, and 24 undergoing total thyroidectomy. Frozen section provided the diagnosis of TPM in only 56.8 % of the patients. We found lymphocytic thyroiditis in 13.6% of patients, follicular variants in 11.9%, capsular invasion in 26.8%, lymph node involvement in 11.9%, soft tissue metastases in the neck in 12.1% and multifocality in 31.7 %, and none of these were related to age or gender (p > 0.05. No distant metastases were observed during approximately 10 years of follow up. We found p53 positivity in 34.5 % of TPM tumors. However, p53 expression was not statistically related to age or gender. Conclusion Our findings imply

  20. Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans.

    Science.gov (United States)

    Kennerknecht, Ingo; Pluempe, Nina; Welling, Brigitte

    2008-01-01

    The apparent selectivity of agnosia for faces is termed prosopagnosia or face blindness. This cognitive dysfunction can be seen after traumatic events--involving at least the right occipital temporal region--or very frequently congenital in the absence of any detectable lesions. The familiarity of congenital prosopagnosia was studied in two independently ascertained collections of subjects with prosopagnosia. One was an unselected group of pupils and students who underwent a questionnaire based screening. The others were self reported subjects after having heard for the first time about the phenomenon of prosopagnosia from mass media citing our studies and/or from our homepage (www.prosopagnosia.de). Those who agreed with consecutive studies of their family members had mostly one or more prosopagnosic first degree relatives. The segregation patterns derived from 39 families are compatible with autosomal dominant inheritance. Hence, mutation(s) in one gene are sufficient for manifestation of the phenotype. Still fitting the concept of autosomal dominant inheritance, we have evidence for a slightly reduced penetrance (4 normal transmitters from distinct families) and one or two de novo mutations.