Patients with noncompaction syndrome of the myocardium may present with cardiac arrhythmia, thromboembolic events, or left ventricular failure. Associations with other diseases, including neurologic or other cardiac syndromes, have been noted. Noncompaction syndrome of the myocardium is primarily diagnosed by echocardiography; however, CT scanning and magnetic resonance imaging are useful ...

Based on concepts proposed by Langley, Cannon, and Selye, adrenal responses to stress occur in a syndrome that reflects activation of the sympathoadrenal system and hypothalamic–pituitary–adrenocortical (HPA) axis; and a "stress syndrome" maintains homeostasis in emergencies such as "fight or flight" situations, but if the stress response is excessive or ...

The use of high-dose polyclonal intravenous immunoglobulin (IVIG) in the treatment of autoimmune neurological diseases has expanded over the last decade. Based on controlled clinical trials IVIG can be considered currently as the first-line treatment in Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy, and it may be ...

The Gorham-Stout Syndrome is a rare condition in which spontaneous, progressive resorption of bone occurs. Even though the prognosis of the condition is generally considered to be good, Gorham-Stout syndrome can cause severe debilitation. In approximately 13% of recorded cases, death ensues. The treatment modalities for Gorham-Stout Syndrome include surgery, ...

Ulnar impaction syndrome is a common source of ulnar-sided wrist pain. It is a degenerative condition that occurs secondary to excessive load across the ulnocarpal joint, resulting in a spectrum of pathologic changes and symptoms. It may occur in any wrist but is usually associated with positive ulnar variance, whether ...

The nonthyroidal illness syndrome (NTIS) is a very common clinical entity among hospitalized patients and has been reported in practically every severe illness and acute or chronic stressful event. There is a large body of data associating the presence of NTIS with the severity of the underlying disease. Most of ...

Antibodies against autoantigens involved in GABAergic neurotransmission are a shared feature of the different subtypes of stiff person syndrome (SPS). The autoantigens can be either presynaptic such as the smaller isoform of glutamic acid decarboxylase (GAD65), postsynaptic such as GABA-A receptor-associated protein and gephyrin, or located at the pre- and ...

INTRODUCTION: Paraneoplastic neurological syndromes (PNS) are uncommon and imperfectly understood and, therefore, are frequently underdiagnosed. METHODS: We review the current literature on the clinical presentation, diagnosis, pathophysiology and treatment of PNS. RESULTS: PNS are a heterogeneous group of neurologic disorders caused by an immune response to an underlying malignancy. A ...

Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies. Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson, Rotor, and Gilbert-Meulengracht syndromes, which are important differential diagnoses indicating benign disease that require no immediate treatment. Dubin-Johnson and Rotor syndromes are rare, exhibit mixed direct and indirect hyperbilirubinemia as ...

This review summarizes our current understanding of the neurological manifestations of primary Sjogren's syndrome (PSS), their pathophysiology, and treatment. Prevalence of neurological manifestations in PSS varies widely from 10 to 60%, with pure or predominantly sensory polyneuropathies as the most common neurologic manifestation (e.g. sensory ataxic or small fiber sensory ...

Café-au-lait, also referred to as café-au-lait spots or café-au-lait macules, present as well-circumscribed, evenly pigmented macules and patches that range in size from 1 to 2 mm to greater than 20 cm in greatest diameter. Café-au-lait are common in children. Although most café-au-lait present as 1 or 2 spots in ...

The heart failure and cardiorenal syndromes are major public health hazards, affecting one in five persons during their lifetime. Alternatives to traditional loop-diuretics, including vasopressin and adenosine A(1) receptor antagonists are now in development. The pathophysiologic rationale for the use of tonapofylline, an intravenous and oral adenosine A(1) receptor antagonist, ...

Guillain-Barre syndrome (GBS) is a syndrome that affects the immune system and attacks the peripheral nervous system. Discussion includes defining GBS as well as its etiology and differential diagnosis. Patients with GBS are not uncommon, and therefore it is important to be educated and to have a more precise understanding. ...

The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterised by impaired peripheral blood cell production due to bone marrow dysplasia affecting one or more of the major myeloid cell lines. MDS are one of five major categories of myeloid neoplasms according to the World Health Organization (WHO) ...

The clinical presentation of Takotsubo syndrome, or apical ballooning syndrome, resembles an extensive anterolateral myocardial infarction with chest pain symptoms and electrocardiographic ST-elevation or T-wave inversion noted in most patients. However, coronary arteries are invariably found to be normal or to display minimal atherosclerotic disease despite modest elevation of cardiac ...

Chronic pelvic pain (CPP) is a common complaint of women presenting for gynecologic and primary care. Evaluation of CPP requires obtaining a careful history including not only obstetrical and gynecologic information but also screening for gastrointestinal, urologic, musculoskeletal, and neurological disorders. A detailed physical examination is also necessary. Management of ...

Susac Syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusion, and hearing loss. It is an autoimmune endotheliopathy that primarily affects young women. Two funduscopic findings, Gass plaques (GP) and arteriolar wall hyperfluorescence (AWH), have recently been described and are not only useful in making the SS ...

Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% ...

Mucorales (subphylum Mucoromycotina) are well-known agents of invasive mucormycosis, whereas Entomophthorales (subphylum Entomophthoromycotina) are rarely encountered in human diseases in temperate zones. Here we report a fatal case of invasive rhino-orbitocerebral entomophthoramycosis caused by Conidiobolus incongruus in a 78-year-old woman with myelodysplastic syndrome.

Some patients present with overlapping features between disorders within the spectrum of autoimmune liver diseases (i.e. autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC)) and are commonly classified as having an "overlap syndrome". Standardized definitions of "overlap syndromes" are lacking. The aim of this report by ...

Orbital pseudotumor is a benign, idiopathic, non-infectious and non-neoplastic clinical syndrome characterized by the presence of an inflammatory mass at orbital level with no identifiable cause. The disease is rarely observed in the pediatric population. This article describes a relapsing bilateral orbital pseudotumor in a young girl. The diagnostic implications ...

The American Psychiatric Association Task Force on DSM-5 has recently proposed consideration of Attenuated Psychotic Symptoms Syndrome as a new diagnosis, based on nearly 15 years of prospective research in centers across the globe. The condition is also known as "psychosis risk syndrome," "at-risk mental state," "ultra-high risk," and "putative ...

Older adults are at risk for iatrogenesis, especially if they are frail and have 1 or more geriatric syndromes. Iatrogenic events do not occur only in acute care; in nursing homes they affect 65% of residents annually. It is therefore likely that they are occurring in assisted living communities, though ...

Effort thrombosis, or Paget-Schroetter Syndrome, refers to axillary-subclavian vein thrombosis associated with strenuous and repetitive activity of the upper extremities. Anatomical abnormalities at the thoracic outlet and repetitive trauma to the endothelium of the subclavian vein are key factors in its initiation and progression. The role of hereditary and acquired ...

Gout is an acute inflammatory arthritis with the potency to fully destroy the integrity of the joint leading to severe disability. Besides joint destruction, gout is often associated with an accelerated atherosclerosis culminating in an increased risk of cardiovascular disease. The current existing therapy modalities allow an efficient treatment that ...

BACKGROUND: Disorders in which the effects of cancer occur at a site remote from the primary tumor are termed paraneoplastic disorders. The most well- known paraneoplastic disorder affecting the neuromuscular junction is the Lambert-Eaton myasthenic syndrome (LEMS). DISCUSSION: We describe a case of the Lambert-Eaton myasthenic syndrome diagnosed in a ...

Saldino-Mainzer syndrome is part of a group disorders, the conorenal syndromes, that are characterized by cone-shaped epiphyses with chronic renal disease in childhood and are variously associated with retinitis pigmentosa, cerebral ataxia, and/or abnormalities of the proximal epiphyses and femur metaphyses. Saldino-Mainzer syndrome usually has sporadic presentation. The present report ...

To describe the most prevalent pediatric hereditary autoinflammatory syndromes. A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. ...

Individuals with Asperger syndrome are at increased risk for mental health problems compared with the general population, especially with regard to mood and anxiety disorders. Generic mental health services are often ill-equipped to offer psychotherapeutic treatments to this population, and specialized supports are difficult to find. This case series used ...

The Endocrine Tumor Summit convened in December 2008 to address 6 statements prepared by panel members that reflect important questions in the treatment of acromegaly and carcinoid syndrome. Data pertinent to each of the statements were identified through review of pertinent literature by one of the 9-member panel, enabling a ...

We report on two sibs with an elongated face with reduced expression, microcephaly, strabismus, wide philtrum, mild joint laxity, thumb sign, bilateral foot drop, and fixed pes cavus, absent tendinous reflexes, an unsteady gait, quick fatigue, slightly diminished limb muscle strength more pronounced distally, abnormalities of cranial nerves III, IV, ...

Inflammatory mediators, adhesion molecules of neutrophils and monocytes, have been shown to be increased in the plasma of patients presenting with acute coronary syndromes. Anaphylaxis is a systemic, immediate hypersensitivity reaction caused by rapid IgE-mediated release of mediators from mast cells and basophils. Kounis syndrome is the coincidental occurrence of ...

Oculomotor abnormalities can be observed in all Parkinsonian syndromes (PS). Nevertheless, due to the considerable overlap of oculomotor pathology in Parkinsonism, oculomotor changes are not generally considered to contribute substantially to the differential diagnosis of PS. Here we review the characteristics of oculomotor disturbances in the major PS, we provide ...

The case of a schizoaffective patient suffering from a malignant catatonic syndrome following combined lithium-risperidone therapy is explored. A case report and relevant deliberations regarding pathophysiology of the catatonic dilemma are discussed. There are two critical transitions in the development of a malignant catatonic syndrome. Dopaminergic system and psychopharmacological factors ...

Postictal psychoses represent a considerable clinical challenge and are often unrecognized. In this review, the clinical features of the syndromes and the underlying biological foundations, as revealed through EEG and imaging studies, are discussed. It is concluded that although the syndrome can be well recognized, it is not acknowledged in ...

Glucocorticoids regulate a broad spectrum of physiologic functions and play important roles in resting and stress homeostasis. Their actions are mediated by the nuclear glucocorticoid receptor (GR). Using a patient as a stimulus, we reviewed briefly the area of Primary Generalized Glucocorticoid Resistance in man and nonhuman primates. In man, ...

The role of various environmental factors in the pathogenesis of immune mediated diseases is well established. Of which, factors entailing an immune adjuvant activity such as infectious agents, silicone, aluminium salts and others were associated with defined and non-defined immune mediated diseases both in animal models and in humans. In ...

The various Wnt pathways that are related to upper limb anomalies are reviewed. Abnormalities in the Wnt7a pathway (located in the dorsal ectoderm) produce several clinically relevant conditions such as the palmar duplication syndrome, nail patella syndrome, ulnar ray deficiency, limb hypoplasia, polysyndactyly and the palmar nail syndrome. Abnormalities of ...

Internal impingement syndrome is a painful shoulder condition related to the impingement of the soft tissue, including the rotator cuff, joint capsule and the long head of the biceps tendon and glenoid labrum. Two types of internal impingement syndrome can be differentiated: posterior-superior impingement and anterior-superior impingement (ASI). The aetiology ...

Much research in venous thrombotic diseases focuses on the acute thrombotic process such as anticoagulation and risk factors. Deep-vein thrombosis directly leads to post thrombotic syndrome, and this can cause significant patient disability. Little research has focused on the vein wall injury response to the thrombotic inflammatory insult. Herein, we ...

Charles Bonnet syndrome (CBS) is a disorder in which psychologically normal people, often with vision impairment, experience complex visual hallucinations. The hallucinations are purely visual and do not occur in any other sensory modality, and people with CBS have full insight into the unreal nature of the hallucinations. This report ...

Frey syndrome is a widely recognized sequela of parotidectomy with a variable prevalence dependent upon diagnostic criteria. There exists a multitude of strategies for both prevention and treatment. Surgeons are obligated to engage patients in a frank and open discussion of the operative risks, benefits, and alternatives. Due to uncertainty ...

Othello syndrome, sometimes referred to as delusional, pathological, morbid, or erotic jealousy, is a rare delusional disorder with high-risk implications. This article provides an overview of Othello syndrome and includes an individual example as well as a review of the literature. Pharmacological interventions and dialectical behavior therapy are discussed as ...

Melanoma is the most lethal form of skin malignancy because of its aggressive behaviour. In advanced disease, interferon alfa can be used as adjuvant therapy. However, this therapy is not free of side effects. We present a case of severe Raynaud syndrome and digital necrosis induced by interferon alfa in ...

Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome that predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear. A number of MLH1 alterations are located ...

There are several reports of patients who developed extracutaneous lymphoma after they started bexarotene treatment. The authors report a case in which the initiation of bexarotene therapy for Sézary syndrome was temporally associated with the development of Hodgkin's lymphoma despite improvement in cutaneous signs and symptoms. It is possible that ...

Whether a relationship exists between sarcoidosis and lymphoma is controversial. We present 4 patients diagnosed with sarcoidosis either during or after the treatment of lymphoma, review the data surrounding the entity known as "sarcoid-lymphoma syndrome" and discuss the diagnostic pitfalls it can present. As both entities are fluorine-18 fluorodeoxyglucose avid, ...

In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and become transported via glypicans and megalin to the responding cells. Hedgehog then interacts with a complex of Patched 1 and Cdo/Boc, which activates endocytic ...

One of the many debated topics in ageing research is whether progeroid syndromes are really accelerated forms of human ageing. The answer requires a better understanding of the normal ageing process and the molecular pathology underlying these rare diseases. Exciting recent findings regarding a severe human progeria, Hutchinson-Gilford progeria syndrome, ...

Cerebral hyperperfusion syndrome is a serious complication of revascularization after carotid endarterectomy, extracranial-intracranial bypass surgery, or stent placement. The mechanisms underlying cerebral hyper-perfusion syndrome are mainly ascribed to the dysfunction of cerebral auto-regulation to blood flow and injury of the endothelia in blood vessels. Although blood pressure control is often ...