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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.
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 ...
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, ...
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 ...
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 ...
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 thee 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 ...
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 ...
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. ...
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 ...
Drews Krzysztof K Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poland. - - 2013
The primary pathologic reason for thrombotic thrombocytopenic purpura (TTP) lies in the systemic formation of platelet aggregations in association with endothelial cells damage. Endothelial damage is a result of an abnormal synthesis and metabolism of unusually large von Willebrand Factor (ULvWF) multimers. In normal conditions vWF cleaving metalloprotease, known as ...
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 ...
Al-Youbi Reem A - - 2013
Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics. A cross-sectional, ...
Murano Tiffany - - 2013
Patients with sickle cell trait (SCT) generally suffer few effects of sickle cell disease. Acute splenic syndrome is a rare but well-documented complication of SCT that can present in the setting of low oxygen tension that occurs with major changes in altitude, either by unpressurized air flight or ground travel ...
Crane Bonnie - - 2013
Using a case format, the pathogenesis, clinical manifestations, diagnosis, and management of Kabuki syndrome, a rare genetic condition, is presented. Nurse practitioners (NPs) may encounter patients presenting to the primary care setting with this rare syndrome; understanding this condition may help them to better care for these patients. A case ...
Seward Samuel L SL - - 2013
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or ...
Clark Pamela - - 2013
Multiple endocrine neoplasia (MEN) is a term used to describe a group of hereditary carcinoma syndromes. Patients carrying a characteristic autosomal dominant gene aberration exhibit various endocrine carcinomas, as well as other anatomical abnormalities. Unfortunately, familial endocrine carcinoma patients are too often unrecognized by primary care providers, resulting in delayed ...
Fazio Giovanni - - 2013
Long QT syndrome incidence is increasing in general population. A careful pre-, peri- and post-operative management is needed for patients with this syndrome because of the risk of Torsades de Pointes and malignant arrhythmias. The available data regarding prevention of lethal Torsades de Pointes during anesthesia in patients with long ...
Squires Janet E - - 2013
CME EDUCATIONAL OBJECTIVES1.Define Munchausen syndrome by proxy (MSP) and provide a more specific classification scheme that accurately reflects the spectrum of this disorder.2.Determine the clinical characteristics of the specific subtypes of MSP.3.Clarify the role played by the medical provider in MSP and challenges posed by our modern health care delivery ...
Angurana Suresh Kumar - - 2013
Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was ...
Gupta Sanjay - - 2013
Kartagener's syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have ...
Seppen Jurgen - - 2013
People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted from the patients' perspective. Both ...
Glasson E J - - 2013
BACKGROUND: Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and impact of comorbidities associated with the disorder. METHOD: The prevalence of five comorbidities ...
Hatemi Gulen - - 2013
Behçet's syndrome (BS) shows a peculiar distribution, with a much higher prevalence in countries along the ancient Silk Road compared with rest of the world. BS also seems to follow a more severe course in ethnic groups with higher prevalence. Diagnosis depends on clinical findings. Criteria sets may not help ...
Ferrara Pietro - - 2013
This population-based study evaluates the prevalence of factitious disorders, Münchausen syndrome, and Münchausen syndrome by proxy in a clinical setting. All children referred to the Pediatric Unit of the Department of Pediatrics of the Catholic University Medical School (Agostino Gemelli Hospital) in Rome were recruited between November 2007 and March ...
Aksglaede Lise - - 2013
47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. ...
Pujanek Zuzanna - - 2013
Patients with CUP-Syndrome represent a small percentage of patients treated by ENT doctor. Often, in spite of the implementation detailed diagnostics, detection of the primary tumor fails. Very important element is to follow the correct sequence of tests and taking into account conditions outside ENT. I our article, we would ...
Jurcic Vesna - - 2013
Classical Goodpasture's (GP) syndrome is a monophasic illness characterized by pulmonary hemorrhage and rapidly progressive glomerulonephritis with linear IgG deposition along the glomerular and distal tubular basement membrane and estructive necrotizing diffuse extracapillary crescentic glomerulonephritis. The majority of patients have circulating anti-glomerular basement membrane (GBM) antibodies, detectable with standard anti-GBM ...
Guidry Jacqueline A - - 2013
We describe a patient with Noonan syndrome (NS) presenting with ulerythema ophrygenes (UO) - an association initially suggested in a single case series of five patients by Pierini and Pierini in 1979. Recognition of the association of UO with NS by pediatric dermatologists is important because of the high incidence ...
Arık Osman Ziya - - 2013
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with multiple morphological abnormalities. Clinical diagnosis is based on the presence of central obesity, polydactyly, rod-cone dystrophy, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities. Cardiac involvement is a rare condition. We present a 28-year-old male with complaints ...
Lazar I - - 2013
Horner's syndrome appears when the three-neuron sympathetic pathway is interrupted anywhere from the posterior-lateral nuclei of the hypothalamus through the spinal cord to the eye. In children, Horner's syndrome can be either congenital or acquired, but overall it is a rare finding. There are several causes of Horner's syndrome, some ...
Grammaticos Philip - - 2013
Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) ...
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