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Shana J Kim, Tomasz Huzarski, Jacek Gronwald, Christian F Singer, Pål Møller, Henry T Lynch, Susan Armel, Beth Y Karlan, William D Foulkes, Susan L Neuhausen, Leigha Senter, Andrea Eisen, Charis Eng, Seema Panchal, Tuya Pal, Olufunmilayo Olopade, Dana Zakalik, Jan Lubinski, Steven A Narod, Joanne Kotsopoulos
Background: Although evidence suggests that larger body size in early life confers lifelong protection from developing breast cancer, few studies have investigated the relationship between body size and breast cancer risk among BRCA mutation carriers. Therefore, we conducted a prospective evaluation of body size and the risk of breast cancer among BRCA mutation carriers. Methods: Current height and body mass index (BMI) at age 18 were determined from baseline questionnaires...
March 13, 2018: International Journal of Epidemiology
Suzanne M Mahon
People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies...
April 1, 2018: Clinical Journal of Oncology Nursing
Bertrand Jordan
Recent efforts at gene therapy for haemophilia A and B using AAV-derived vectors show durable expression of coagulation factors at significant levels, resulting in almost complete correction of the phenotype. This is the first success of gene therapy for a major hereditary disorder, and shows how continuous improvement of many components of the system has finally succeeded. Although these results must be confirmed with more patients and longer durations, they constitute a significant accomplishment for this approach after decades of frustration...
March 2018: Médecine Sciences: M/S
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
Ahmet F Oner, Tiraje Celkan, Çetin Timur, Miranda Norton, Kaan Kavaklı
Hereditary factor X (FX) deficiency is a rare bleeding disorder more prevalent in countries with high rates of consanguineous marriage. In a prospective, open-label, multicentre, phase 3 study, 25 IU/kg pdFX was administered as on-demand treatment or short-term prophylaxis for 6 months-2 years. In Turkish subjects (N=6), 60.7% of bleeds were minor. A mean of 1.03 infusions was used to treat each bleed, and mean total dose per bleed was 25.38 IU/kg. Turkish subjects ratedpdFX efficacy as excellent or good for all 84 assessable bleeds; investigators judged overall pdFX efficacy to be excellent or good in all subjects...
March 16, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, Angela Hodges, John Hardy
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively...
February 2, 2018: Neurobiology of Aging
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, Kader Karlı Oğuz, Mahmut Şamil Sağıroğlu, Uğur Özbek, Esra Serdaroğlu, Başar Bilgiç, Sevim Erdem, Sibel Aylin Uğur İşeri, Haşmet Hanağası, Hakan Gürvit, Rıza Köksal Özgül, Ali Dursun
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIF1C mutations (c...
March 12, 2018: Brain & Development
Carles Díez-López, Josep Comín-Colet, José González-Costello
PURPOSE OF REVIEW: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. RECENT FINDINGS: The development of preclinical translational disease models during the last years have helped our understanding of specific disease pathophysiological pathways that might eventually change the outcomes of these patients...
March 14, 2018: Current Opinion in Cardiology
Vijay A Patel, Laila Siddique, Lauren Stahl, Michele M Carr
BACKGROUND: The objective of this work was to assess resident education regarding contemporary management of hereditary angioedema using a web-based survey. METHODS: An 11-item, multiple-choice, electronic questionnaire was sent to all 106 accredited otolaryngology training programs in November 2016. Questions focused on resident education, management principles, and formalized assessment. RESULTS: A total of 34 program directors responded, representing 32% of otolaryngology residences...
March 15, 2018: International Forum of Allergy & Rhinology
A K Lazareva, O N Kuleshova, S V Aydagulova, V V Dulidova, V V Chernykh
The article presents a profound clinical, instrumental and morphological analysis of a family case of iridocorneal endothelial syndrome (Chandler syndrome) notable for atypical aggressive bilateral course and unusual hereditary manifestation. Five stages of the pathological process have been suggested.
2018: Vestnik Oftalmologii
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
Mohammad Idrees Adhi, Sumbul Kashif, Kashif Muhammed, Nisar Siyal
OBJECTIVE: To document clinical pattern of retinoblastoma in Pakistani population. METHODS: This retrospective study, which was conducted at Department of Ophthalmology, Dow University of Health Sciences, Karachi, reviewed clinical records of patients with retinoblastoma from 1997 to 2012. Staging of disease was done by referring to retinal diagrams, RetCam images, and first magnetic resonance imaging. Ophthalmic notes, imaging reports and histopathology reports of enucleated eyes established optic nerve involvement...
March 2018: JPMA. the Journal of the Pakistan Medical Association
Jing Zou, Mingmei Meng, Clarice S Law, Yale Rao, Xuedong Zhou
Malocclusion is a worldwide dental problem that influences the affected individuals to varying degrees. Many factors contribute to the anomaly in dentition, including hereditary and environmental aspects. Dental caries, pulpal and periapical lesions, dental trauma, abnormality of development, and oral habits are most common dental diseases in children that strongly relate to malocclusion. Management of oral health in the early childhood stage is carried out in clinic work of pediatric dentistry to minimize the unwanted effect of these diseases on dentition...
March 13, 2018: International Journal of Oral Science
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Adam DeBusk, Mark L Moster
PURPOSE OF REVIEW: Highlight some of the recent advances in gene therapy and gene modification for optic nerve disease to promote axon regeneration, neuroprotection, and increased visual functioning. RECENT FINDINGS: Visual loss secondary to optic nerve damage occurs in numerous ophthalmologic and neurologic conditions. Damaged retinal ganglion cells (RGCs) do not regenerate once they undergo apoptosis after injury. Gene therapy has been studied to replace gene mutations in disorders affecting the optic nerve as well as to alter genes responsible for suppressing or activating pathways of optic nerve growth and regeneration...
March 13, 2018: Current Opinion in Ophthalmology
Léopoldine Bricaire, Capucine Richard, Mathieu Gauthé, Béatrix Cochand-Priollet, Sébastien Gaujoux
We present the case of a severe familial primary hyperparathyroidism related to a germline deletion in the HRPT2 (CDC73) gene. Morphological explorations revealed 2 potential hyperfunctioning parathyroid glands: a left cervical lesion on the neck ultrasound, and an ectopic mediastinal lesion on the parathyroid scintigraphy using Tc-methoxyisobutylisonitrile and on F-fluorocholine PET/CT. Surgery removal and histopathological examination determined that the mediastinal mass corresponded to a thymoma and the cervical lesion to a parathyroid adenoma...
March 13, 2018: Clinical Nuclear Medicine
Lauren Marissa Weber, Jamie McDonald, Kevin Whitehead
AIM: To explore the association between vitamin D levels and mild versus severe epistaxis, as well as the overall epistaxis severity score (ESS) in patients with hereditary hemorrhagic telangiectasia. PATIENTS & METHODS: A retrospective chart review of 198 patients was performed to explore the relationship between vitamin D levels and the ESS. Vitamin D levels were also compared with those with mild epistaxis to those with severe epistaxis. RESULTS: A significant difference was found between patient's vitamin D levels and their associated ESS and duration of epistaxis...
March 14, 2018: Biomarkers in Medicine
Ruben Jauregui, Galaxy Y Cho, Vitor K L Takahashi, Julia T Takiuti, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
Inherited retinal diseases (IRDs) are a major cause of incurable familial blindness in the Western world. In the pediatric population, IRDs are a major contributor to the 19 million children worldwide with visual impairment. Unfortunately, the road to the correct diagnosis is often complicated in the pediatric population, as typical diagnostic tools such as fundus examination, electrodiagnostic studies, and other imaging modalities may be difficult to perform in the pediatric patient. In this review, we describe the most significant IRDs with onset during the pediatric years (ie, before the age of 18)...
March 14, 2018: Asia-Pacific Journal of Ophthalmology
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