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Hereditary Disease

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https://www.readbyqxmd.com/read/28444876/cataracts-in-a-population-of-bengal-cats-in-france
#1
Aurélie Bourguet, Gilles Chaudieu, Alice Briatta, Alexandre Guyonnet, Marie Abitbol, Sabine Chahory
OBJECTIVE: To document the clinical appearance and prevalence of cataracts in a French population of Bengal cats. METHODS: Two distinct populations of Bengal cats were examined as follows: (i) 51 animals recruited for evaluation of national prevalence of ocular diseases in an observational study conducted between October 2014 and November 2016 at the Alfort ophthalmology unit; (ii) 12 patients referred for cataract diagnosis examined at a veterinary eye clinic located in central France, between December 2014 and February 2016...
April 25, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/28444445/acquired-cystic-kidney-disease-an-under-recognized-condition-in-children-with-end-stage-renal-disease
#2
Eugene Y H Chan, Bradley A Warady
Acquired cystic kidney disease (ACKD) is a condition that occurs predominantly in patients with end-stage renal disease (ESRD). In contrast to hereditary cystic kidney disease, ACKD is characterized by the presence of multiple small cysts in bilaterally small kidneys. Limited pediatric data suggest a high incidence (21.6-45.8%) of ACKD in children on dialysis, comparable to that in adults, with an increased frequency associated with a longer duration of dialysis. Recent research has shed light on the pathogenesis of ACKD, such as activation of proto-oncogenes...
April 25, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28442163/the-search-for-the-missing-heritability-of-prostate-cancer
#3
EDITORIAL
Patrick C Walsh
Scientists and clinicians at Johns Hopkins have been working since 1987 to uncover the genetic pathogenesis of prostate cancer. A patient query about the hereditary nature of the disease led to data collection on family history, followed by segregation and linkage analyses. Collaborative investigations using next-generation sequencing to identify genetic variants associated with prostate cancer risk have revealed the significance of HOXB13, BRCA 1/2, and DNA repair mutations.
April 22, 2017: European Urology
https://www.readbyqxmd.com/read/28442130/autoinflammatory-diseases-in-pediatric-dermatology-part-1-urticaria-like-syndromes-pustular-syndromes-and-mucocutaneous-ulceration-syndromes
#4
S Hernández-Ostiz, L Prieto-Torres, G Xirotagaros, L Noguera-Morel, Á Hernández-Martín, A Torrelo
Monogenic autoinflammatory diseases are a heterogeneous emergent group of conditions that are currently under intensive study. We review the etiopathogenesis of these syndromes and their principal manifestations. Our aim is to propose a classification system based on the clinicopathologic features of typical skin lesions for routine clinical use in dermatology. Our focus is on diagnosis in pediatric practice given that this is the period when the signs and symptoms of these syndromes first appear. In Part 1 we discuss the course of urticaria-like syndromes, which include cryopyrin-associated periodic conditions and hereditary periodic fever syndromes...
April 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28441992/safety-of-a-c1-inhibitor-concentrate-in-pregnant-women-with-hereditary-angioedema
#5
James Fox, Arthur B Vegh, Inmaculada Martinez-Saguer, Walter A Wuillemin, Jonathan Edelman, Debora Williams-Herman, Mikhail Rojavin, Tanja Rosenberg
BACKGROUND: Increased estrogen levels during pregnancy can exacerbate hereditary angioedema (HAE), yet disease and treatment ramifications remain poorly studied in pregnant women. OBJECTIVE: Data from the international Berinert Patient Registry were used to evaluate outcomes of pregnancies exposed to plasma-derived, pasteurized, nanofiltered C1-inhibitor concentrate (pnfC1-INH) during routine HAE management. METHODS: This observational registry, conducted between 2010 and 2014 at 30 U...
May 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28440987/-tumors-of-the-central-nervous-system
#6
Marco Antonio Alegría-Loyola, Javier Andrés Galnares-Olalde, Moisés Mercado
Central nervous system (CNS) tumors constitute a heterogeneous group of neoplasms that share a considerable morbidity and mortality rate. Recent advances in the underlying oncogenic mechanisms of these tumors have led to new classification systems, which, in turn, allow for a better diagnostic approach and therapeutic planning. Most of these neoplasms occur sporadically and several risk factors have been found to be associated with their development, such as exposure to ionizing radiation or electromagnetic fields and the concomitant presence of conditions like diabetes, hypertension and Parkinson's disease...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28440438/loss-of-heterozygosity-in-fancg-fancf-and-brip1-from-head-and-neck-squamous-cell-carcinoma-of-the-oral-cavity
#7
Christin Türke, Susanne Horn, Carola Petto, Dirk Labudde, Günter Lauer, Gretel Wittenburg
Recent advances have been made in the understanding of Fanconi anemia (FA), a hereditary disease that increases the risk for head and neck squamous cell carcinomas (HNSCC) by 500- to 700-fold. FA patients harbour germline mutations in genes of cellular DNA repair pathways that are assumed to facilitate the accumulation of mutations during HNSCC development. Mutations in these FA genes may also contribute to HNSCC in general. In the present study, we analysed three FA genes; FANCF, FANCG and BRIP1, that are involved in the repair of DNA inter strand cross-links, in HNSCC and their potential role for patient survival...
April 24, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#8
Sarah B Ohlen, Magdalena L Russell, Michael J Brownstein, Frances Lefcort
Hereditary sensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the development and long-term viability of neurons in the peripheral nervous system (PNS) and retina. FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a tissue-specific reduction of the IKAP/ELP1 protein, a subunit of the Elongator complex. Hallmarks of the disease include vasomotor and cardiovascular instability and diminished pain and temperature sensation caused by reductions in sensory and autonomic neurons...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438772/severe-vincristine-induced-polyneuropathy-in-a-teenager-with-anaplastic-medulloblastoma-and-undiagnosed-charcot-marie-tooth-disease
#9
Yasmin Aghajan, Janet M Yoon, John Ross Crawford
Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis...
April 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#10
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28436950/mre11-stability-is-regulated-by-ck2-dependent-interaction-with-r2tp-complex
#11
P von Morgen, K Burdova, T G Flower, N J O'Reilly, S J Boulton, S J Smerdon, L Macurek, Z Hořejší
The MRN (MRE11-RAD50-NBS1) complex is essential for repair of DNA double-strand breaks and stalled replication forks. Mutations of the MRN complex subunit MRE11 cause the hereditary cancer-susceptibility disease ataxia-telangiectasia-like disorder (ATLD). Here we show that MRE11 directly interacts with PIH1D1, a subunit of heat-shock protein 90 cochaperone R2TP complex, which is required for the assembly of large protein complexes, such as RNA polymerase II, small nucleolar ribonucleoproteins and mammalian target of rapamycin complex 1...
April 24, 2017: Oncogene
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#12
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28434507/motor-neuropathies-and-lower-motor-neuron-syndromes
#13
REVIEW
A Verschueren
Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available...
April 20, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28434176/persistent-and-recurrent-hyperparathyroidism
#14
REVIEW
Carole Guerin, Nunzia Cinzia Paladino, Aoife Lowery, Fréderic Castinetti, David Taieb, Fréderic Sebag
Despite remarkable progress in imaging modalities and surgical management, persistence or recurrence of primary hyperparathyroidism (PHPT) still occurs in 2.5-5% of cases of PHPT. The aim of this review is to expose the management of persistent and recurrent hyperparathyroidism. A literature search was performed on MEDLINE using the search terms "recurrent" or "persistent" and "hyperparathyroidism" within the past 10 years. We also searched the reference lists of articles identified by this search strategy and selected those we judged relevant...
April 22, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28433622/diminished-capacity-of-opsonization-and-immune-complex-solubilization-and-detection-of-anti-c1q-antibodies-in-sera-from-patients-with-hereditary-angioedema
#15
Daisuke Honda, Isao Ohsawa, Nobuyuki Sato, Hiroyuki Inoshita, Satoshi Mano, Yasuhiko Tomino, Yusuke Suzuki
BACKGROUND: Hereditary angioedema (HAE) is an autosomal dominant disease caused by deficiency of C1 esterase inhibitor. Symptoms of HAE include edema, which can potentially cause suffocation. Some patients with HAE exhibit immunological abnormalities, which could prevent an accurate diagnosis. Low levels of complement components are characteristic of HAE and in other settings are thought to reduce elimination of apoptotic cells and immune complex (IC). Thus, we aimed to experimentally clarify the mechanism of immunological abnormalities using sera from HAE patients...
April 19, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28433201/humoral-primary-immunodeficiency-diseases-clinical-overview-and-chest-high-resolution-computed-tomography-hrct-features-in-the-adult-population
#16
REVIEW
L Cereser, R Girometti, P d'Angelo, M De Carli, A De Pellegrin, C Zuiani
Humoral primary immunodeficiency diseases (hPIDs) are a heterogeneous group of hereditary disorders resulting in abnormal susceptibility to infections of the sinopulmonary tract. Some of these conditions (e.g., common variable immunodeficiency disorders [CVID]) imply a number of non-infectious thoracic complications such as non-infectious airway disorders, diffuse lung parenchymal diseases, and neoplasms. Chest high-resolution computed tomography (HRCT) is a key imaging tool to characterise and quantify the extent of underlying thoracic involvement, as well as to direct and monitor treatment...
April 19, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28432244/taking-a-proactive-role-in-tackling-hereditary-disease-in-dogs
#17
(no author information available yet)
No abstract text is available yet for this article.
April 22, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28431796/lessons-learned-from-twins-in-autoimmune-and-chronic-inflammatory-diseases
#18
REVIEW
Elena Generali, Angela Ceribelli, Maria Antonietta Stazi, Carlo Selmi
Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual genetic predisposition provides a rate of heritability. The concordance rates in monozygotic and dizygotic twins allows to estimate the weight of the environment in determining disease susceptibility, despite recent data supporting that only a minority of immune markers depend on hereditary factors...
April 18, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28430650/the-p-g534e-variant-of-habp2-is-not-associated-with-sporadic-papillary-thyroid-carcinoma-in-a-polish-population
#19
Artur Kowalik, Danuta Gąsior-Perczak, Martyna Gromek, Monika Siołek, Agnieszka Walczyk, Iwona Pałyga, Małgorzata Chłopek, Janusz Kopczyński, Ryszard Mężyk, Aldona Kowalska, Stanisław Góźdź
Thyroid cancer is one of the most frequently diagnosed cancers of the endocrine system. There are no known genetic risk factors for non-medullary thyroid cancer, other than a small number of hereditary syndromes; however, approximately 5% of non-medullary thyroid cancer, designated familial non-medullary thyroid cancer, exhibits heritability. The p.G534E (c.1601G>A) variant of HABP2 was recently reported as a risk factor for familial non-medullary thyroid cancer, including papillary thyroid carcinoma. We analyzed the incidence of the c...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430541/a-comprehensive-approach-to-hepatic-vascular-disease
#20
Khaled M Elsayes, Akram M Shaaban, Sarah M Rothan, Sanaz Javadi, Beatrice L Madrazo, Rosa P Castillo, Victor J Casillas, Christine O Menias
The liver has a complex vascular supply, which involves the inflow of oxygenated blood through the hepatic artery (systemic circulation) and deoxygenated blood through the portal vein (portal circulation), as well as the outflow of deoxygenated blood through the hepatic veins to the inferior vena cava. A spectrum of vascular variants can involve the liver. Some of these variants may result in areas of enhancement that can mimic more serious pathologic conditions. In this article, the authors discuss a spectrum of variants and pathologic conditions that may involve the liver vasculature...
April 21, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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