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Lebowitz-Amit Raya R Department of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, - - 2014
Objective: Malignant pheochromocytoma is rare, may be sporadic or have a genetic basis. A vasoactive-intestinal-peptide-(VIP)-secreting pheochromocytoma has hardly been described in the literature, and treatment remains challenging in the absence of well-controlled randomized trials. The HIF-VEGF axis has been implicated in pheochromocytoma when associated with germ-line VHL or SDH mutations, ...
Mahajan Rahul R Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, - - 2014
"Wolf's isotopic response" refers to the occurrence of a new dermatosis at the site of previously healed dermatosis. A number of factors including viral, neural, vascular, and immunologic factors have been implicated in the causation of this peculiar response but none has been proven conclusively. Here, we report a case ...
Nacinovich Renata - - 2014
Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with ...
Castiglione Alessandro A Department of Neurosciences, University of Padua, Via Giustiniani, 2, Padua, Italy. Electronic address: - - 2014
To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted. Genetic, otologic, imaging, eye ...
Klingelhoefer Lisa L Department of Neurology, National Parkinson Foundation International Centre of Excellence, King's College Hospital and King's College, London, United Kingdom; Department of Neurology, Technical University Dresden, Dresden, Germany. Electronic address: - - 2014
Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid, neurological, and poor prognosis, with death in few ...
Kurt Aydın A Department of Radiology, Dıskapı Yıldırım Beyazıt Training and Researche Hospital, Ankara, Turkey, E-mail: - - 2014
The venous system has frequent anatomical variations. A good understanding of the venous anatomy is very important and proper evaluation of the venous system is crucial for the appropriate treatment of venous disorders. There are many variations of the greater saphenous vein at the level of the thigh, knee and ...
Digeorge Nicholas W NW Division of Undersea and Aerospace Medicine, Captain James A. Lovell Federal Health Care Center, USS Tranquillity Medical Clinic, 3420 Illinois Street, Great Lakes, Illinois - - 2014
There are many hemoglobin (Hb) variants that vary in prevalence as well as in clinical significance. Two young male military recruits were incidentally found to have two uncommon Hb variants. This led to an investigation of Hb Lepore-Boston and G-Waimanalo to determine if these U.S. Navy recruits were healthy enough ...
Mullan Erin - - 2014
Background:Incontinentia pigmenti (IP) is a rare genetic skin disorder with X-linked dominant inheritance and a characteristic sequence of cutaneous manifestations, which is regarded as lethal in XY males.Objective:To report a case of a surviving XY male with the common IKBKG (NEMO) gene deletion confirming IP.Methods and Results:A newborn XY male ...
Hecker Jeffrey E - - 2014
Fanniff and Letourneau concluded that neither their review of the published literature nor their own investigation supported the use of Scale 1 of the Juvenile Sex Offender Assessment Protocol-II (J-SOAP-II). I argue that empirical findings on Scale 1 are mixed and that there is more support in the literature than ...
Campanilho-Marques Raquel R Rheumatology Department, Lisbon Academic Medical Centre, Lisbon, Portugal, - - 2014
Mevalonate kinase deficiency (MKD) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. Depending on the residual mevalonate kinase activity, the clinical spectrum ranges from a relatively mild periodic fever syndrome to a lethal metabolic disease. Data on therapeutic options for MKD are currently limited and rely generally ...
Erkek Emel E Acıbadem Maslak Hospital, Büyükdere Caddesi 40, Maslak Sarıyer 34457, Ístanbul, Turkey. - - 2014
Circumscribed acral hypokeratosis (CAH) is characterized by solitary or multiple circular, depressed, slightly erythematous patches on the palms or soles. Keratinization defects on acral sites or prior trauma to the affected area have been considered as potential triggers of CAH. Although affected patients typically present with a long-term history of ...
Evsyutina Yulia Viktorovna YV Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian - - 2014
Achalasia cardia is an idiopathic disease that occurs as a result of inflammation and degeneration of myenteric plexi leading to the loss of postganglionic inhibitory neurons required for relaxation of the lower esophageal sphincter and peristalsis of the esophagus. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and ...
Pontikides Nikolaos N Department of Endocrinology, Diabetes and Metabolism, Panagia General Hospital, Venizelou 34b, Pilea, PO Box: 55535, Thessaloniki, - - 2014
Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of ...
Lubrano Lauren L Departments of Internal Medicine and Pediatrics, MedStar Georgetown University Hospital, Washington, District of Columbia, USA - - 2014
Abstract Hb Memphis [α23(B4)Glu→Gln; HBA2: c.70G > C (or HBA1)] is a stable hemoglobin (Hb) variant caused by a substitution of glutamine for glutamic acid at residue 23 of the α2- or α1-globin chain. Heterozygous Hb Memphis has no known clinical or hematological effect, and all prior reports have resulted from observations ...
Lourenço Silvia V SV *Department of Pathology, Dental School, University of São Paulo, São Paulo, Brazil; †Department of Dermatology, Medical School, University Federal of Bahia, Bahia, Brazil; ‡Laboratory of Immunopathology, Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil; §Department of Pathology, A.C. Camargo Cancer Center, São Paulo, Brazil; ¶Department of Dermatology, Medical School, University of São Paulo, São Paulo, Brazil; and ‖Department of Pathology, Hospital Obrero, La Paz, - - 2014
: Head and neck mucosal melanoma (MM) is an aggressive and rare neoplasm of melanocytic origin. To date, few retrospective series and case reports have been reported on MM. This article reviews the current evidence on head and neck MM and the molecular pathways that mediate the pathogenesis of this ...
Agopiantz M M Department of Endocrinology and Medical Gynecology, University Hospital of Nancy, University of Lorraine, Rue du Morvan, 54511, Vandœuvre-lès-Nancy, France, - - 2014
First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. The responsible gene, DCAF17 located on chromosome 2q31.1, was discovered in 2008 and to date nine mutations have been reported in the literature. The aim of ...
Silverstein David D Department of Dermatology, Health Sciences Center, School of Medicine, Stony Brook University, 100 Nicolls Rd, Stony Brook, NY 11794, USA. - - 2014
Synovial sarcomas account for approximately 8% of all soft tissue tumors. The hallmark tumor marker is the t(X;18) translocation, which results in fusion of the SYT gene of chromosome 18 to the SSX gene of the X chromosome, creating most frequently either an SYT-SSX1 or SYT-SSX2 transfusion transcript. Clinically, synovial ...
Christie Corina C Instituto Argentino de Investigación Neurológica - IADIN, Buenos Aires, - - 2014
Hemimasticatory spasm is a very rare movement disorder characterized by unilateral, involuntary, paroxysmal contractions of the jaw-closing muscles, causing clinically brief twitches and/or spasms. A 62-year-old female consulted us with a 30-year history of unusual involuntary twitches in the preauricular region and spasms that hampered jaw opening. During these spasms, ...
Duan Yani Y Key Laboratory of Plant Protection Resources and Pest Management of Ministry of Education, Entomological Museum, Northwest A&F University, Yangling, Shaanxi Province 712100, China School of Plant Protection, Anhui Agricultural University, Hefei, Anhui Province 230036, China; Email: - - 2014
The Chinese mainland species of the leafhopper genus Nephotettix Matsumura (Hemiptera: Cicadellidae: Deltocephalinae: Chiasmini) (Nephotettix cincticeps (Uhler), Nephotettix malayanus Ishihara & Kawase, Nephotettix nigropictus (Stål), Nephotettix parvus Ishihara & Kawase rec. n., and Nephotettix virescens (Distant)) are reviewed. This genus is redescribed. Variation is described and illustrated. Keys for their ...
Kumar Amandeep A Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi 110029, - - 2014
Sclerosing RMS (SRMS) is a recently described subtype of RMS that has not yet been included in any of the classification systems for RMSs. We did pubmed search using keywords "sclerosing, and rhabdomyosarcomas" and included all pediatric cases (age ≤ 18 years) of SRMSs in this review. We also included ...
Modarressi Taher T *Massachusetts General Hospital, Boston, MA †Department of Internal - - 2013
Infantile hypertrophic pyloric stenosis (IHPS) is a concerning cause of non-bilious vomiting in the neonatal population. While a number of etiological theories exist, its exact cause remains nebulous. The question of an infectious etiology (or contribution) has been previously examined in case reports and case series, with recent support through ...
Shultz Susan S Walsh University, North Canton, OH, - - 2013
A variety of self-report and physical performance-based outcome measures are commonly used to assess progress and recovery in the lower leg, ankle, and foot. A requisite attribute of any outcome measure is its ability to detect change in a condition, a construct known as "responsiveness". There is a lack of ...
Dagan Meirav - - 2013
Objective: Recruiting couples for psychological studies can be challenging. This brief report is the first to examine the average couples' response rate and to systematically review the quality of reporting of couples' response rate in studies of couples coping with cancer. Method: A systematic review (1980-2011) was conducted, including 83 ...
Akin Yigit - - 2013
Paraneoplastic syndromes (PNSs) are rare disorders which are triggered by an altered immune system response to a neoplasm. Although prostate cancer (PCa) is the second most common urological malignancy associated with PNSs, literature is lacking in defining the cases representing different PNSs in PCa. Herein, we present a 50-year-old man ...
Manickavasagam J J Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital and Sheffield Childrens Hospital, Sheffield, UK. Electronic address: - - 2013
Subglottic stenosis is a narrowing of the endolarynx and maybe classified as congenital (primary) or acquired (secondary). Congenital stenosis maybe caused by a small cricoid cartilage, thick submucosa or other laryngeal abnormalities and remains a well-known cause of stridor in infancy. It occurs sporadically and familial occurrence is rare. Our ...
Hwang Kun K Department of Plastic Surgery, Inha University School of Medicine, Incheon, - - 2013
Authors, editors and reviewers, publishers, and subscribers all play their role in scientific journals. These 5 stakeholders are essential to journals. In this paper, firstly, I briefly summarize the role of each journal stakeholder and their respective goals. Secondly, the status of each participant in the Archives of Plastic Surgery ...
Heaton Jason L - - 2013
Dental characters can provide vital clues for understanding intra- and intertaxonomic morphological variation and its underlying genetic and environmental components. However, the unambiguous identification of particular traits and their comparative study is often confounded by lack of consistent terminology in the relevant literature. This difficulty is exacerbated when the etiologies ...
Alturkustani Murad - - 2013
Adult-onset leukodystrophies are clinically and pathologically heterogeneous diseases, and the overlapping morphologic features among these disorders can lead to confusion in pathologic classification. We report 3 recent autopsy cases that illustrate the clinicopathologic distinction between the 3 entities. The first, autosomal dominant leukodystrophy, is characterized clinically by early autonomic dysfunction ...
McCarthy Joseph - - 2013
Hip arthroscopy is a rapidly progressing field that has advanced in function and survivorship over the past decade. As increasing literature is published on outcomes of hip arthroscopy, a retrospective review has allowed for the identification of factors that affect survivorship. Within this review, the authors present the factors identified ...
Nooraine Javeria J Department of Neurology, Vikram Hospital, Bengaluru, - - 2013
Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her ...
Samoladas Ep E Department of Spine Surgery, Guy's and St. Thomas' Hospitals, London, - - 2013
Background: The syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare human disease and while its association with scoliosis was first reported in 1974, thirty years later the responsible genetic mutations are being elucidated. This progress was due to the reporting of single interesting cases. Case description: ...
Rohani Pooyan - - 2013
Familial cerebral cavernoma is an autosomal dominant phenotype with incomplete clinical and neuroimaging penetrance. The most common clinical manifestations include seizures and cerebral hemorrhage. We present the case of a 7-year-old boy who developed acute onset facial nerve paralysis secondary to previously unknown familial cerebral cavernoma. Genetic workup revealed a ...
La Marca Antonio - - 2013
BACKGROUNDThe main objective of individualization of treatment in IVF is to offer every single woman the best treatment tailored to her own unique characteristics, thus maximizing the chances of pregnancy and eliminating the iatrogenic and avoidable risks resulting from ovarian stimulation. Personalization of treatment in IVF should be based on ...
Gürcanli G Emre - - 2013
Construction is one of the world's biggest industry that includes jobs as diverse as building, civil engineering, demolition, renovation, repair and maintenance. Construction workers are exposed to a wide variety of hazards. This study analyzes 1,117 expert witness reports which were submitted to criminal and labour courts. These reports are ...
Lubet Alex - - 2013
Kudos to Ruth L. Chimenti et al. and MPPA editor Ralph Manchester for their excellent and complementary contributions to the literature regarding performing arts and worker's compensation (WC). Chimenti et al. addressed the issue of why WC is underutilized by professional orchestral musicians. They conducted a survey whose n = ...
Bianchi Claudio C Center for the Study of Environmental Cancer, Italian League against Cancer, Monfalcone, - - 2013
Malignant mesotheliomas of the pleura, epithelial type, were observed in two brothers. Both the patients had histories of severe exposure to asbestos, having worked as insulators. The latency periods in the two cases were 26 and 38 years, respectively. Available literature data suggest that mesothelioma occurrence among blood-related people is ...
Morais Paulo - - 2013
Easy bruising in children represents a diagnostic conundrum. Although trauma (accidental or not) and bleeding disturbances are the most common causes, other rarer etiologies should be considered in differential diagnosis. When a 4-year-old male patient presented with a history of bruising and hematomas after slight injuries, coagulopathy and physical abuse ...
Ambrosetti Fabrizio - - 2013
In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic ...
Mossman Brooke T - - 2013
Abstract Silica or silicon dioxides (SiO2) are naturally occurring substances that comprise the vast majority of the earth's crust. Because of their prevalence and commercial applications, they have been widely studied for their potential to induce pulmonary fibrosis and other disorders. Historically, the focus in the workplace has been on ...
Aggarwal Vineet - - 2013
Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and life span and are usually seen later in life for management of skeletal deformities. The diagnosis is usually established on clinical and anthropometric analyses supported with relevant radiological investigations. Plain radiographs and ...
O'Callaghan Michael E - - 2013
Background:To replicate single nucleotide polymorphism (SNP) associations with preterm birth (PTB; birth <37 completed weeks of gestation) and synthesise currently available evidence using meta-analysis.Methods:Spontaneous PTB cases and controls were selected from an existing cohort. Candidate SNPs were taken from an existing genotype panel. A systematic review was conducted for each ...
Restrepo M Santiago - - 2013
Pentalogy of Cantrell is a rare condition with a varied expression and a high mortality. We present a patient with the classic pentad (type 1), but with a previously undescribed constellation of cardiac manifestations including ectopia cordis totalis, total anomalous pulmonary venous return, and tetralogy of Fallot. This case reminds ...
Defazio Michael V MV Miller School of Medicine, University of Miami, Miami, FL - - 2013
Carpal coalition is a relatively common, yet poorly recognized, anomaly that may present independently or in association with syndromic or metabolic disorders. While largely asymptomatic, symptoms may manifest secondary to biomechanical stress at the site of fusion. The purpose of this report is to describe 103 cases of carpal synostosis ...
Wang Peter - - 2013
Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions characterized by delays in social interactions and communication as well as displays of restrictive/repetitive interests. DNA copy number variants have been identified as a genomic susceptibility factor in ASDs and imply significant genetic heterogeneity. We report a 7-year-old female with ADOS-G and ...
Santelmo C - - 2013
The coexistence of EGFR and ALK-EML4 gene mutations represents a rare event (about 1%) in patients with non small cell lung cancer (NSCLC) and the few cases described in the literature have all been treated by different methods. We present the case of a 52-year-old woman with adenocarcinoma of the ...
Sorich Michael J - - 2013
From 2010 to 2012 nine systematic reviews reported highly variable conclusions regarding the association between carriage of a cytochrome P450 2C19 loss-of-function allele and the risk of adverse cardiovascular events in individuals using clopidogrel. Possible contributors to the variable findings include differences in patient population, cardiovascular endpoints, and statistical models ...
Dayem-Quere Manal - - 2013
We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array-CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The majority of the reported 20p deletions are located on the 20p12 region, covering the JAG1 gene ...
Nadaf Afreen A Department of Oral Pathology, Government Dental College, Jammu and Kashmir, - - 2013
Fibrous dysplasia (FD) has been regarded as a developmental skeletal disorder characterized by replacement of normal bone with benign cellular fibrous connective tissue. It has now become evident that FD is a genetic disease caused by somatic activating mutation of the Gsα subunit of G protein-coupled receptor. Here we report ...
Gabriele Tonni - - 2013
PURPOSE: Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations. METHODS: Embryogenic environmental theories and systematic review of the literature are reported. RESULTS: Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo ...
Kessel R - - 2013
Factor XIII (FXIII) deficiency is a rare bleeding disorder, which can result in life threatening hemorrhage. Rarer still is acquired FXIII deficiency, in which the disorder is due to autoantibodies that inhibit the factor. To describe one of the youngest reported patients with this condition. To discuss the challenges we ...
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