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 ...

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 ...

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 ...

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 ...

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. ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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) ...

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 ...

BACKGROUND AND AIMS: '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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

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 ...

Telomeres and telomerase were initially discovered in pursuit of questions about how the ends of chromosomes are maintained. The implications of these discoveries to age-related disease have emerged in recent years with the recognition of a group of telomere-mediated syndromes. Telomere-mediated disease was initially identified in the context of dyskeratosis ...

Sjogren syndrome (SS) is one of the most common autoimmune diseases. Early clinical manifestations of SS are primarily decreased tear and saliva secretion, leading to dry eye and dry mouth syndromes, but in its later stages, it can become systemic, even resulting in B cell lymphomas. The use of new ...

Myelodysplastic syndromes (MDS) are a diverse group of disorders characterized by disorderly and ineffective hematopoiesis. Patients suffer morbidity from associated cytopenias that result in an increased risk of infection, transfusion-dependent anemia, and bleeding. Despite the variable risk of transformation to acute leukemia, the majority of deaths are due to bone ...

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. ...

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 ...

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 ...

BACKGROUND: Kleine-Levin Syndrome (KLS) is a rare disorder which mainly affects adolescent men. It is characterized by recurrent episodes of hypersomnia, usually accompanied by hyperphagia, cognitive and mood disturbances, abnormal behavior such as hypersexuality, and signs of dysautonomia.In 1990 the diagnostic criteria for Kleine-Levin Syndrome were modified in the International ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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.

Emil Kraepelin's nosology has been reinvented, for better or worse. In the United States, the rise of the neo-Kraepelinian nosology of DSM-III resuscitated Kraepelin's work but also differed from many of his ideas, especially his overtly biological ontology. This neo-Kraepelinian system has led to concerns regarding overdiagnosis of psychiatric syndromes ...

Lennox-Gastaut syndrome is one of the most severe epileptic encephalopathies of childhood onset. The cause of this syndrome can be symptomatic (ie, secondary to an underlying brain disorder) or cryptogenic (ie, has no known cause). Although Lennox-Gastaut syndrome is commonly characterised by a triad of signs, which include multiple seizure ...

SAPHO syndrome, representing a constellation of synovitis, acne, palmo-plantar pustulosis, hyperostosis, and osteitis, is now recognized as a distinct medical entity: a reactive infectious osteitis. Genetic, immunological, and bacterial mechanisms are implicated in the development of the disease. Diagnostic problems may arise due to non-complete manifestations of SAPHO: either acne ...

Central pontine myelinolysis (CPM) is an uncommon neurological syndrome that is usually related to the rapid restoration of a previous hyponatraemia. Although the most frequent location of CPM injury is the pons, it is now designated osmotic demyelination syndrome (ODS) because, as well as in the brainstem, these injuries can ...

Frontotemporal degeneration (FTD), formerly known as Pick's disease has become recognized as a distinct and relatively common entity encompassing behavioural (bvFTD language (PPA) and extrapyramidal (CBD/PSP) presentations. Further clinical subdivisions such as semantic dementia(SD), and pathological subtypes such as mesial temporal sclerosis increase the complexity of diagnosis.The relatively younger age ...

Stiff person syndrome (SPS), stiff limb syndrome, jerking SPS and progressive encephalomyelitis with rigidity and myoclonus (PERM) are a family of rare, insidiously progressive diseases of the central nervous system. They all share the core clinical features of appendicular and axial rigidity caused by continuous involuntary motor unit activity, and ...

Despite its low frequency, endogenous Cushing's syndrome is not an exceptional clinical entity. A growing number of cases are currently derived to specialized centers suggesting an increasing knowledge of the clinical features of hypercortisolism by specialists of diverse branches of clinical medicine. Clinical signs derive from an exaggeration of the ...

Triads of congenital erythroderma and ichthyosis, hair shaft abnormalities, and immune dysregulation have been recognized as Netherton's syndrome (NS). A pediatric patient with NS is presented. Clinical manifestations are described along with a pertinent review of the literature.

In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are widely used clinically as infertility treatments. Although ART procedures are generally considered safe, some studies have suggested an increase in the occurrence of major malformations and some other complications in babies conceived by ART. Further, it has recently been ...