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Shimojima K - - 2009
Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth. Some of them are related to genomic imprinting as a genetic cause. We report a girl who showed pre- and postnatal overgrowth who was found to ...
Finestack Lizbeth H - - 2009
Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability. The syndrome is caused by a single gene mutation on the X chromosome. Although individual differences are large, most individuals with FXS display weaknesses across all language and literacy domains compared to peers of the same chronological age ...
Boulas Mari M - - 2009
Caudal regression syndrome, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital malformation characterized by varying degrees of developmental failure early in gestation. It involves the lower extremities, the lumbar and coccygeal vertebrae, and corresponding segments of the spinal cord. This is a rare disorder, ...
Siva Aksel - - 2009
Behçet's Syndrome (BS) is a multi-system, vascular-inflammatory disease of unknown origin, involving the nervous system in a subgroup of patients. The growing clinical and imaging evidence suggests that primary neurological involvement in BS may be subclassified into two major forms: the first one, which is seen in the majority of ...
Farruggia Piero - - 2009
Hypereosinophilic syndrome (HES) represents a heterogeneous group of diseases, some of which are being clarified by recent advances in molecular genetics. It is very rare in children. Uncertainties in classification and lack of prospective studies make therapeutic decisions difficult. The authors report two cases of HES in which steroid therapy ...
Gothelf Doron - - 2009
Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes ...
Fong Tamara G - - 2009
Delirium is a common and serious acute neuropsychiatric syndrome with core features of inattention and global cognitive dysfunction. The etiologies of delirium are diverse and multifactorial and often reflect the pathophysiological consequences of an acute medical illness, medical complication or drug intoxication. Delirium can have a widely variable presentation, and ...
Geddis Amy E AE Department of Pediatrics, University of California San Diego, Rady Children's Hospital, 9500 Gilman Dr., Mailcode 0671, San Diego, CA 92093, USA. - - 2009
Thrombocytopenia is a relatively common clinical problem in hospitalized neonates, and it is critical to distinguish infants who have rare congenital thrombocytopenias from those who have acquired disorders. Two well-described inherited thrombocytopenia syndromes that present in the newborn period are congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR). ...
Efthymiou Christopher Andrew - - 2009
Tachy-brady syndrome or sick-sinus syndrome as it is also known is a cardiac rhythm disturbance resulting in alternating episodes of bradycardia and tachycardia. Diagnosis can be difficult because of its nonspecific symptoms and elusive findings on electrocardiogram or 24h tape. Thymic cysts are relatively uncommon tumours that are predominantly asymptomatic ...
Cooke Roger - - 2009
BACKGROUND: Hand-arm vibration syndrome (HAVS) includes a spectrum of vascular, neurological and musculoskeletal symptoms resulting from exposure to vibrating tools. Hypothenar hammer syndrome (HHS) is a lesion of the ulnar artery as it courses adjacent to the hamate bone and results from either single or repeated episodes of trauma to ...
Sinclair Alexandra J AJ Department of Neurology, Queen Elizabeth Hospital, University Hospital Birmingham NHS Trust, Birmingham, England, UK. - - 2009
Lumbar puncture (LP), a common diagnostic procedure, is usually associated with low morbidity. We describe the case of a 29-year-old woman who underwent a non-traumatic LP in the setting of normal coagulation. Cauda equina syndrome subsequently developed secondary to an extradural spinal haematoma. Avoidance, identification and management of this uncommon ...
Alasti F - - 2009
Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome. The estimated prevalence of microtia is 0.8-4.2 per 10 000 births, ...
Schneider Susanne A SA Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United - - 2009
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of ...
Ripperger Tim - - 2009
Thoracic aortic aneurysms are associated with sudden, unexpected death due to dissection and/or rupture. In such cases, the latent, preceding state of aortic dilatation has often gone undiagnosed. As a consequence of the sudden unresolved death, medico-legal autopsy requested by a public prosecutor will be the consequence to establish the ...
Hu Guo-Xin GX School of Pharmacy, Wenzhou Medical College, Wenzhou 325000, - - 2009
Phthalates, the most abundantly produced plasticizers, leach out from polyvinyl chloride plastics and disrupt androgen action. Male rats that are exposed to phthalates in utero develop symptoms characteristic of the human condition referred to as testicular dysgenesis syndrome (TDS). Environmental influences have been suspected to contribute to the increasing incidence ...
Nieuwenhuis-Mark Ruth E - - 2009
It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and ...
Warkentin Theodore E - - 2009
BACKGROUND: Heparin-induced anaphylactic and anaphylactoid reactions are of increasing clinical and scientific interest, particularly given the recent identification of a syndrome of heparin-induced anaphylaxis due to oversulfated chondroitin sulfate (OSCS), a contaminant in certain heparin preparations. However, heparin-induced anaphylactoid reactions also have been reported to be a consequence of immune-mediated ...
Visser Remco - - 2009
Overgrowth syndromes are a group of growth disorders which have gained joint attention from the fields of pediatrics, endocrinology and genetics. Major progress such as the identification of genetic causes has recently enhanced the delineation of the characteristic and non-characteristic manifestations, phenotype-genotype correlations and knowledge of the underlying pathophysiological mechanisms. ...
Valin Nadia - - 2009
Protease inhibitors boosted with ritonavir can lead to drug-drug interactions, particularly with inhaled corticosteroids such as fluticasone, because of the potent inhibition of cytochrome P450-3A4 activity. We report 4 cases of iatrogenic Cushing's syndrome after concomitant administration of inhaled fluticasone and antiretroviral therapy including a protease inhibitor boosted with ritonavir. ...
Lemmon Gary W - - 2009
Dialysis-associated steal syndromes remain a vexing problem for the busy vascular access surgeon. Those factors associated with ischemia include the elderly, diabetic, female, preexisting cardiac disease and brachial anastomosis, and previous ipsilateral access. A constellation of symptoms and findings based on underlying arterial disease and flow characteristics are necessary to ...
Stone Marvin J - - 2009
Hyperviscosity syndrome (HVS) is a common manifestation of Waldenström's macroglobulinemia (WM). Patients with HVS have skin and mucosal bleeding, retinopathy with visual disturbances, and a variety of neurologic disorders. HVS can be diagnosed from physical examination by identifying the characteristic retinal venous engorgement ("sausaging") on funduscopic inspection. HVS can be ...
Limaye V S - - 2009
The idiopathic inflammatory myopathies are a group of systemic autoimmune syndromes characterized by striated muscle inflammation. Here, we discuss the clinical features of this group of conditions and review the recent developments in the understanding of the pathogenesis and immunogenetics of the idiopathic inflammatory myopathies. The role of myositis-specific autoantibodies ...
O'Brien Kylie A - - 2009
BACKGROUND: Chinese medicine distinguishes itself from Western medicine in the differentiation of diseases according to underlying patterns of disharmony, or Chinese medicine (CM) syndromes. CM has its own clinical endpoints that are used as evidence of change in the body. Yet, relatively little is known about the reliability of CM ...
Cohen M Michael MM - - 2009
Cloverleaf skulls (Kleeblattschädel-Syndromen, trilobular skulls) have different modes of development (pathogenetic variability). Synostosis may involve various sutures in different types of cloverleaf skulls. Their facial features, radiographic findings, and CNS anomalies are also reviewed. Different causes of cloverleaf skulls have been identified (etiologic heterogeneity). One table lists 26 different conditions ...
Park Sang Woo - - 2009
Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) ...
Lempert Thomas - - 2009
Both migraine and vertigo are common in the general population with lifetime prevalences of about 16 % for migraine and 7 % for vertigo. Therefore, a concurrence of the two conditions can be expected in about 1.1 % of the general population by chance alone. However, recent epidemiological evidence suggests ...
Ollerton Jeff - - 2009
'Pollination syndromes' are suites of phenotypic traits hypothesized to reflect convergent adaptations of flowers for pollination by specific types of animals. They were first developed in the 1870s and honed during the mid 20th Century. In spite of this long history and their central role in organizing research on plant-pollinator ...
Karuppiah Sabesan - - 2009
Dyke-Davidoff-Masson syndrome is a disorder involving hemiatrophy or hypoplasia of 1 cerebral hemisphere secondary to an insult in the developing brain. Often this will manifest with seizures, hemiparesis, mental retardation, and facial changes. Associated with this pathology are the radiologically evident changes, such as thickening of the calvarium, hyperpneumatization of ...
Liu Xiaoli - - 2009
Cyclosporin A (CsA) and corticosteroids are extensively used in the treatment of autoimmune diseases including Vogt-Koyanagi-Harada (VKH) syndrome. The exact immunosuppressive mechanisms of these drugs are not exactly known. Th1 and Th17 cells are important populations involved in autoimmune diseases. In this study, we investigated whether they are involved in ...
Decaux Olivier - - 2009
Systemic manifestations of monoclonal gammopathies (MG) are rare but extremely varied. This general review focuses on the hyperviscosity syndrome, neurological disorders, skin changes, the POEMS syndrome, and biological manifestations, with the exception of amyloidosis AL and cryoglobulinemia. The hyperviscosity syndrome usually involves a combination of general, hemorrhagic, ocular and central ...
Ranweiler Rachel - - 2009
Well-defined, distinctive phenotypic features and natural history characterize Down syndrome, the most frequent form of developmental disability caused by a microscopically demonstrable chromosomal aberration. Triplicate state or trisomy of all or a portion of chromosome 21 causes Down syndrome. There are 3 genetic mechanisms leading to Down syndrome, or trisomy ...
Rivers Angela - - 2009
Congenital bone marrow failure syndromes (CBMFS) are extremely uncommon diseases that can present in the neonate. The objective of this article is to review the presentation, diagnosis, pathophysiology, and management of CBMFS in relation to neonatology. CBMFS should be considered when a single or multiple blood cell lineages are low ...
Hartway Sarah - - 2009
Down syndrome is a genetic disorder, occurring when an individual has all or part of an extra copy of chromosome 21. Parents of children with Down syndrome are often confused by the term genetic disorder because they associate the term with inheritance but have also learned that Down syndrome is ...
Havliza Katrin - - 2009
In Germany Fuchs syndrome is used to describe a variant of erythema multiforme majus which mainly involves the mucosal surfaces. As the skin may be completely unaffected, it is an under-recognized diagnosis and often difficult to confirm. Clinical features involve erythema, erosions and ulcerations of the oral mucosa. In most ...
Coret Francisco - - 2009
Anti-Hu paraneoplastic syndromes are usually associated with an underlying neoplasia, although a few patients who are anti-Hu-positive never develop cancer after long-term follow-up. Tumour therapy remains the mainstay of therapeutic options, and early immune therapy in parallel is advisable. When no tumour is found, immunologically-based therapies are nowadays the only ...
Garcia-Manero Guillermo - - 2009
During the past 5 years, we have witnessed an explosion in our understanding, classification, and number of therapeutic opportunities for patients with myelodysplastic syndromes (MDS). These include the development of new histologic classifications, scoring systems, supportive care measures, and most importantly, effective treatments that are safe and can modify the ...
Oji Vinzenz - - 2009
Ichthyoses constitute a large group of cornification disorders that affect the entire integument. The skin is characterized by visible scaling and in many cases by inflammation, for example, in bullous/keratinopathic ichthyosis or Netherton syndrome. From the viewpoint of classification it is useful to distinguish non-syndromic from syndromic types of ichthyosis. ...
Salm Cindy M - - 2009
Hypereosinophilic syndrome (HES) is a rare disorder typically seen in males, aged 20 to 50, with a predisposition for Caucasians. It is marked by overproduction of eosinophils (>1,500/μL) and multiorgan system damage due to eosinophilic infiltration and mediator release. There are multiple variants of HES. Cardiac complications are more common ...
Schetz Miet - - 2009
Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated ...
Daniels Jessica - - 2009
Catatonia is a neuropsychiatric syndrome that can occur due to medical or psychiatric disorder. This review synthesizes over 20 years of original research and comprehensive review articles with attention to the most recent findings. Though catatonia is common and highly treatable, there have been few research studies investigating the syndrome. ...
Pourmand Rahman - - 2009
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune neuromuscular disorder affecting the presynaptic neuromuscular junction. LEMS is considered to be a rare disease, but its clinical recognition and diagnosis are important due to its high association with underlying lung cancer which may be detected at the very early stages. The onset ...
Ferrer L M - - 2009
The human XY gonadal sex reversal is a rare disease. Primary amenorrhea, lack of secondary sexual characteristics and the possible existence of streak gonads are the most common signs of this syndrome. Five cases of this syndrome have been described in the last 42 years in bovines. However, to the ...
Kapoor Ritika R - - 2009
Hyperinsulinism is a cause of recurrent and severe hypoglycaemia in the newborn and infancy period. Several developmental genetic syndromes are associated with hyperinsulinism. The underlying molecular mechanisms that lead to hyperinsulinaemic hypoglycaemia in most of these syndromes are unclear. Beckwith-Wiedemann syndrome (BWS) is the most common syndrome associated with hyperinsulinism. ...
Bonanni Paolo - - 2009
PURPOSE: Angelman syndrome (AS) accounts for upto 6% of all cases with severe mental retardation and epilepsy. Clinical findings include developmental delay, severely impaired expressive language, ataxic gait, tremulousness of limbs and a typical behavioral profile including a happy demeanour, hyperactive behavior and low attention span. Seizures, abnormal electroencephalogram, microcephaly ...
Rezaei Nima - - 2009
Primary immunodeficiency diseases (PID) are a heterogeneous group of congenital disorders of the immune system leading to recurrent infections, autoimmunity, malignancies, and hematological disorders. This review focuses specifically on inherited disorders associated with neutropenia, which may occur in isolation or as a feature of more complex immune disorders. It has ...
Pinkhardt Elmar Hans - - 2009
BACKGROUND: Idiopathic Parkinson's syndrome (IPS) and motor neuron disorders (MND) are generally considered as distinct clinicopathological entities. However, cooccurrence of different neurodegenerative disorders is more frequent than would be expected. Therefore, there is an ongoing discussion whether some entities represent parts of a common spectrum. OBJECTIVE AND METHODS: We describe ...
Mahler Michael - - 2009
Autoantibodies to the polymyositis/scleroderma (PM/Scl) complex have been associated with systemic sclerosis and PM/Scl overlap syndrome. The report of Hanke and colleagues in a recent issue of Arthritis Research and Therapy is the first to describe the separate evaluation of anti-PM/Scl-75c and PM/Scl-100 autoantibodies and their relationship to clinical manifestations ...
Bianca S - - 2009
Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed ...
Razaq Wajeeha - - 2009
Idiopathic hypereosinophilic syndrome represents a heterogenous group of leukoproliferative disorders with hypereosinophilia of an unknown etiology resulting in multiorgan dysfunction. The disease can involve any organ but commonly involves heart, nervous system, skin, and gastrointestinal system. Steroids and chemotherapy agents remain the mainstay of the treatment to suppress organ damage ...
Arsenovic Nebojsa - - 2009
Cystic sebaceous neoplasms are uncommon and almost always regarded as a consistent marker for Muir-Torre syndrome. We present a 73-year-old man with a cystic sebaceous neoplasm on his arm, clinically not associated with Muir-Torre syndrome.
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