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Tanaka D D Minatogawa Hospital, - - 2014
A certain number of alcoholic patients are unable to adapt to conventional alcoholism treatment and are forcibly discharged from hospital treatment. This study attempted to find their characteristics in order to present a clue in treating them by analyzing forensic cases with alcohol dependence syndrome. Data came from offenders who ...
Mester Jessica J Cleveland Clinic Genomic Medicine Institute, Cleveland, - - 2014
Cowden syndrome (CS) is an autosomal dominant hereditary cancer syndrome causing increased risk for breast, thyroid, renal, uterine, and other cancers as well as benign neoplasias and neurodevelopmental concerns. Timely diagnosis of affected patients is key, as early recognition allows for high-risk screening and other preventative measures prior to a ...
Giardiello Francis M FM 1Johns Hopkins University School of Medicine, Baltimore, Maryland 2Yale University School of Medicine, New Haven, Connecticut 3Baylor University Medical Center at Dallas, Texas 4Cleveland Clinic, Cleveland, Ohio 5University of Utah, Salt Lake City, Utah 6VA Puget Sound Health Care System, Seattle, Washington 7University of Washington, Seattle, Washington 8Eastern Virginia Medical School, Norfolk, Virginia 9Stanford University, Palo Alto, California 10Kaiser Permanente Medical Center, Walnut Creek, California 11Oregon Health and Science University, Portland, Oregon 12White River Junction VA Medical Center, White River Junction, Vermont 13Geisel School of Medicine at Dartmouth, White River Junction, Vermont 14Brigham and Women's Hospital, Boston, Massachusetts 15Dana Farber Cancer Institute, Boston, Massachusetts 16Harvard Medical School, Boston, Massachusetts 17Indiana University School of Medicine, Indianapolis, - - 2014
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: provides a colorectal cancer risk assessment tool to screen individuals in the office ...
Giardiello Francis M FM Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: - - 2014
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the ...
Giardiello Francis M FM Johns Hopkins University School of Medicine, Baltimore, Maryland, - - 2014
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in ...
Dimitriou D D Institute of Education, Department of Psychology and Human Development, University of London, London, - - 2014
Configural processing in face recognition is a sensitivity to the spacing between facial features. It has been argued both that its presence represents a high level of expertise in face recognition, and also that it is a developmentally vulnerable process. We report a cross-syndrome investigation of the development of configural ...
Moy Matthew M MM Research Assistant, Salivary Gland Center, Columbia University College of Dental Medicine, New York, NY; Fourth-Year Student, Columbia University College of Dental Medicine, New York, - - 2014
Primary Sjögren syndrome (PSS) rarely occurs in children. In addition, because the objective and subjective diagnostic criteria for juvenile PSS differ from those seen in adults, identification of its presence can be difficult to establish. This case report illustrates the accepted benchmarks for diagnosing pediatric PSS.
Muthusamy Saravanaraja S Department of Orthopaedic Surgery, University of Miami Miller School of Medicine, 1400 NW 12th Avenue, Suite 4036, Miami, FL 33136, - - 2014
General orthopedic surgeons frequently encounter patients with conditions affecting multiple bones. It is important to recognize common polyostotic diseases. This article describes five polyostotic conditions: Multipe Enchondromatosis (Ollier Disease and Maffucci syndrome), Multiple Hereditary Exostosis (Diaphyseal Aclasis), Fibrous Dysplasia (McCune-Albright syndrome and Mazabraud syndrome), Paget's Disease of bone (Osteitis Deformans), ...
Fang Su S Seventh People's Hospital of Shenyang, Shenyang, - - 2014
Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.
Carvajal Alegria Guillermo G Service de rhumatologie, hôpital de la Cavale-Blanche, CHU de Brest, 29609 Brest cedex, - - 2014
Neurological manifestations of primary Sjögren's syndrome are multiple and appear frequently. Depending on data analysis, patient recruitment, and diagnosis criteria used to defined primary Sjögren's syndrome or neurological manifestations, the estimated prevalence is between 0 and 70%. Peripheral neurological complications seem the most common, particularly sensory-motors axonal neuropathies. Neuronopathy seems ...
Garner Matthew R MR Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021 - - 2014
Compartment syndrome is an elevation of intracompartmental pressure to a level that impairs circulation. While the most common etiology is trauma, other less common etiologies such as burns, emboli, and iatrogenic injuries can be equally troublesome and challenging to diagnose. The sequelae of a delayed diagnosis of compartment syndrome may ...
Santiago T T Rheumatology Unit, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-075, Coimbra, Portugal, - - 2014
Herein, we describe a 44-year-old female diagnosed with histologically proven coexistence of primary Sjögren's syndrome and sarcoidosis with pulmonary and muscular involvement. The differential diagnosis may be difficult, but this is not an exceptional case, which highlights the need to critically revise the consideration of sarcoidosis as an exclusion for ...
Saunderson Christopher E D CE Department of Cardiology, Mid Yorkshire NHS Trust, Wakefield, West Yorkshire, - - 2014
Advancing age is a risk factor for the development of coronary artery disease and is an important indicator of outcome after acute coronary syndrome. As the number of older adults increases, the burden of cardiovascular disease is set to grow particularly as older adults remain disadvantaged in the delivery of ...
Aboh Ikenna Valentine IV From the *Department of Maxillofacial Surgery, University of Siena, Siena; †Department of Maxillofacial Surgery, "Sapienza" University of Rome, Rome; and ‡Department of Pathology, University of Siena, Siena, - - 2014
This article reports a case of a boy with LEOPARD syndrome with unusual mandibular osteolytic osteoclastic-like lesions and eruption disorder. The patient was referred to our department for bilateral facial swelling: systemic examinations, diagnosis, and dental and maxillofacial care are reported.
Lerner-Ellis Jordan P JP Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, Ontario, Canada; Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, MA, - - 2014
In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. We examined 594 samples from unrelated individuals and different ...
Kirschner Richard E RE Section of Plastic and Reconstructive Surgery, Department of Plastic Surgery, Nationwide Children's Hospital, The Ohio State University College of Medicine, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address: - - 2014
The 22q11.2 deletion syndrome (22q11DS) may be associated with several palatal abnormalities, including overt cleft palate, submucosal cleft palate, palatopharyngeal disproportion, and velar hypotonia. The syndrome is the genetic disorder most commonly associated with velopharyngeal dysfunction (VPD). The complex causes of VPD in affected patients combine with the complexity of ...
Simon Marioara M Pneumology Hospital "Leon Daniello" Cluj-Napoca, - - 2014
Mounier-Kuhn syndrome or congenital tracheobronchomegaly is a rare clinical and radiologic condition. It is characterized by a tracheal and bronchial dilation. Fewer than 100 cases have been reported in the medical literature since the original description in 1932. The first utilization of bronchoscopy for diagnosis of this condition was recorded ...
Ozyurt Abdullah A aDivision of Pediatric Cardiology bDivision of Pediatric Gastroenterology, Erciyes University Faculty of Medicine, Kayseri, - - 2014
Lymphoedema is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system. Lymphoedema may be primary or secondary and can be inherited. Primary lymphoedema (primary lymphatic dysplasia) is a chronic oedema caused by a developmental abnormality of the lymphatic system. Primary lymphoedema most commonly affects ...
Rathi M M Department of Nephrology, Post Graduate Institute of Medical Education and Research, Chandigarh, - - 2014
Glomerular diseases are an important cause of chronic renal failure in developing countries. The spectrum of diseases causing nephrotic syndrome is changing globally in the last few decades. The aim of this prospective study was to look at this spectrum at a tertiary care center in North India and to ...
Dokras Anuja A Obstetrics and Gynecology, University of Pennsylvania, 3701 Market St Ste 800 Philadelphia, PA, United States, - - 2014
Polycystic ovary syndrome is a common endocrine disorder often diagnosed in adolescence or early adulthood. In adolescence, the many similarities between normal features of puberty and symptoms of PCOS make it challenging to confirm the diagnosis. Even among adult women, the changing definitions of PCOS may lead to inaccurate diagnoses. ...
Lee G H GH The Polyposis Registry, St Mark's Hospital, Watford Road, HA1 3UJ, UK; Department of Surgery and Cancer, Imperial College - - 2014
There have been recent advances in genetic testing enabling accurate diagnosis of polyposis syndromes by identifying causative gene mutations, which is essential in management of individuals with polyposis syndrome and predictive genetic testing of their extended families. There are some similarities in clinical presentation of various polyposis syndromes, which may ...
Evoli A A Istituto di Neurologia, Università Cattolica, Roma, Italy, - - 2014
Lambert-Eaton myasthenic syndrome (LEMS) is a pre-synaptic disorder of the neuromuscular and autonomic transmission mediated by antibodies to voltage-gated calcium channels at the motor nerve terminal. LEMS is a quite rare and probably under-diagnosed disease: the onset may be slow and clinical signs are typically fluctuating, thus adding to the ...
Bellini Carlo - - 2014
Primary lymphedema is defined as lymphedema caused by dysplasia of the lymph vessels. This complex group of diseases is discussed in detail from a clinical perspective. A review of the epidemiology and classification of lymphedema on the backdrop of its clinical presentation reveals weaknesses of the present classification system, which, ...
Sen Sumit S Department of Dermatology, Venereology and Leprosy, The Institute of Post-Graduate Medical Education and Research and Seth Sukhlal Karnani Memorial Hospital, Salt Lake City, Kolkata, - - 2014
Mixed connective tissue disorder is an uncommon disease. Some scientists are reluctant to recognize it as a separate entity. Some others have defined this ailment. Cutaneous features of this condition are unique. Researchers from India have described these features to relate to those described in the studies from other parts ...
Bourke Elyssia E BMedSce (Hons), Medical Student, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, and Department of Clinical Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, - - 2014
Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. To increase awareness among general practitioners of their role in the diagnosis and management of KS. KS has a highly varied phenotype comprising a range of ...
Berniczei-Royko Adam A Department of Orthodontics, University of Szeged, Szeged, - - 2014
Abstract Alagille syndrome is a rare, autosomal, complex, dominant disorder associated with dysfunction of the liver, heart, skeleton, and eyes, as well as characteristic facial appearance. It is associated with the defect in component of the Notch signalling pathway. Here, we review the main features of Alagille syndrome with special ...
Liu Guo-Ping GP Basic Medical College, Shanghai University of Traditional Chinese Medicine, Shanghai 201203, - - 2014
In Traditional Chinese Medicine (TCM), most of the algorithms used to solve problems of syndrome diagnosis are superficial structure algorithms and not considering the cognitive perspective from the brain. However, in clinical practice, there is complex and nonlinear relationship between symptoms (signs) and syndrome. So we employed deep leaning and ...
Brahmbhatt Parag P Department of Internal Medicine, East Tennessee State University, Johnson City, TN, USA. - - 2014
Hetrotaxy syndrome is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Although it is a known condition among physicians taking care of pediatric patients, it is rarely seen in adult day-to-day medicine and most physicians involved in care of ...
Canpolat Aydin A Department of Neurosurgery, Taksim Training and Research Hospital, Istanbul, - - 2014
Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy ...
Tur─čal Mert M Department of Obstetrics and Gynecology, Maternal Fetal Medicine Unit, Hacettepe University Faculty of Medicine, Ankara, - - 2014
Amniotic band syndrome is a rare disorder which is thought to be caused by early rupture of the amniotic membrane. The extent of the disease may vary from minor digital amputations to severe lethal anomalies. For many years in routine clinical practice, this syndrome has been diagnosed with two-dimensional ultrasonography. ...
Tong Lana X LX David Geffen School of Medicine at the University of California, Los - - 2014
A 10-year-old girl presented with a new onset bilateral suborbital rash. Dermatologic examination revealed violaceous, non-tender, well-demarcated patches with an atypical distribution and pigmentation. After further investigation, a diagnosis of Munchausen syndrome was made and the patient was referred to her primary care provider for further management.
Lu Ming-Chi MC Division of Allergy, Immunology and Rheumatology, Buddhist Dalin Tzu Chi Hospital, Chiayi, Taiwan School of Medicine, Tzu Chi University, Hualien, - - 2014
To investigate the utilisation of eye disorder-related ambulatory medical services prior to the diagnosis of primary Sjögren's syndrome in female Taiwanese patients. A nationwide, population-based case-control study. Taiwan's National Health Insurance Research Database. A total of 347 patients with a diagnosis of primary Sjögren's syndrome from 2005 to 2010 and ...
Urs Aadithya B AB Department of Oral Pathology, Maulana Azad Institute of Dental Sciences, New Delhi, - - 2014
We report a new case of postaxial acrofacial dysostosis (Miller) syndrome with expanded profile. The patient presented with unusual orofacial and digital anomalies along with mental retardation. This report emphasizes the recognized features of the syndrome as well as describes intraoral findings that could aid in the diagnosis and management ...
Bhambhani Vikas V National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, - - 2014
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short ...
Nakagawa Kenji - - 2013
Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations and included in the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been detected in ≈35% of patients with CINCA. ...
Jacobs Johannes W - - 2013
Symptomatic generalized hypermobility is a frequent occurring condition among patients referred to the rheumatologist or other medical specialist. In a subset of patients, a further classifying diagnosis of a specific syndrome can (and should) be made, based on pattern recognition and knowledge of the spectrum of hypermobility syndromes. Diagnostic clues ...
Ryan Monique M - - 2013
Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in children. This review discusses the heterogeneous presentations of this disorder, the frequency of disease-related complications and the importance of assiduous clinical care in pediatric GBS. Recent reports have highlighted the variable clinical and neurophysiologic subtypes of pediatric ...
Tan A P AP National University Hospital, Diagnostic Radiology, 5 Lower Kent Ridge Road, Singapore 119074, Singapore. - - 2013
Down syndrome (Trisomy 21) is the most common chromosomal abnormality among liveborn infants. It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Management requires a multidisciplinary approach to the ongoing evaluation and monitoring for associated congenital anomalies and acquired disorders.Trisomy 21 is characterized ...
Egashira Ryoko - - 2013
Primary Sjögren syndrome is an immune-mediated exocrinopathy characterized by lymphoplasmacytic infiltration of the salivary and lacrimal glands. Various systemic extraglandular disorders are associated with primary Sjögren syndrome, and the thorax is commonly affected. The pulmonary manifestations of primary Sjögren syndrome may be categorized as airway abnormalities, interstitial pneumonias, and lymphoproliferative ...
Teede Helena - - 2013
Context:Polycystic ovary syndrome (PCOS) is an under-recognized, common, and complex endocrinopathy. The name PCOS is a misnomer, and there have been calls for a change to reflect the broader clinical syndrome.Objective:The aim of the study was to determine perceptions held by women and primary health care physicians around key clinical ...
Gennery Andrew R - - 2013
22q11 deletion syndrome is the most common genetic abnormality. More patients are surviving cardiac surgery, and many do not have cardiac anomalies. Adult patients are now being described. It is important for paediatricians, and increasingly adult physicians, to be aware of the optimum management of these patients. Three main immunological ...
Agarwal Gupta Neerja - - 2013
Down syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neglected disorder amongst practicing physicians. Children with Down syndrome when intervened early by speech therapy, physiotherapy and occupational therapy and given proper medical attention for different health issues, can have a ...
Li Yongzhe - - 2013
Primary Sjögren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjögren's syndrome have relied mostly on candidate gene approaches. To identify new genetic susceptibility loci for primary Sjögren's syndrome, we performed a three-stage genome-wide association study in Han Chinese. In the discovery stage, we ...
Trainor Paul A - - 2013
Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, ...
Tang Zaiming Z Center for Autophagy Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, - - 2013
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis can lead to a group of genetic syndromes known as ciliopathies. However, the regulatory mechanisms of primary ciliogenesis in normal and cancer cells are incompletely understood. Here we demonstrate that autophagic degradation of ...
Tinkle Brad T - - 2013
Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with ...
Reaume M Neil MN Division of Medical Oncology, The Ottawa Hospital Cancer Centre and the University of Ottawa, Ottawa, - - 2013
Hereditary renal cell cancer (RCC) is an ideal model for germline genetic testing. We propose a guideline of hereditary RCC specific criteria to suggest referral for genetic assessment. A review of the literature and stakeholder resources for existing guidelines or consensus statements was performed. Referral criteria were developed by expert ...
Michot Caroline - - 2013
Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as perception deafness, severe complications of auto-immune diseases or ...
Pereira Bernardo - - 2013
An 82-year-old patient presented a progressively growing hard thyroid nodule, and left ptosis. Additionally, ophthalmologic evaluation revealed ipsilateral miosis, diagnostic findings of Horner syndrome. Computerized tomography revealed a 7.5-cm thyroid mass infiltrating the main neck vessels. Although clinical and imaging data were suggestive of poorly differentiated thyroid carcinoma, fine-needle aspiration ...
Nahata Leena - - 2013
Klinefelter syndrome is a common condition that remains underdiagnosed, particularly prior to adulthood. Early detection could prevent morbidity and mortality, but the classic phenotype of small testes and tall stature may not be apparent until adolescence, and there is minimal guidance regarding whom to screen. We performed a retrospective study ...
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