The role of dysfunction of the gastrointestinal tract in the pathogenesis of multiple organ failure (MOF) complicating the course of critically ill patients has been suspected for more than 40 years. However, several hypotheses have been proposed and sometimes refuted to establish a link. This review summarizes the current knowledge ...

BACKGROUND: The World Health Report 2002 of the World Health Organization estimated that physical inactivity is one of the main 10 causes of morbidity and mortality and the proportion of people whose health is at risk due to sedentary life is approximately 60%. OBJECTIVE: To assess the relationship of the ...

Posterior reversible encephalopathy syndrome (PRES)or Reversible posterior leukoencephalopathy syndrome (RPLS) is a neurological complication associated with various illnesses and medications(including rheumatological illnesses and their medications). Cyclosporine is the drug which is most commonly implicated in the causation of this condition. The authors report a 6 year old patient with systemic onset ...

OBJECTIVE: To identify candidate diagnostic criteria for macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA) using international consensus formation through a Delphi questionnaire survey. METHODS: A questionnaire listing 28 clinical, laboratory, and histopathologic features of MAS elicited by literature review was sent to 505 pediatric rheumatologists worldwide. Respondents ...

Stress in several guises is evident in individuals with hypertension and in those with the metabolic syndrome and may account, at least in part, for the extent and pattern of sympathetic nervous activation. Importantly, elevated activity of the sympathetic nervous system is related to the development of obesity-related illnesses including ...

A human multi-protein complex (WINAC), composed of SWI/SNF components and DNA replication-related factors, that directly interacts with the vitamin D receptor (VDR) through the Williams syndrome transcription factor (WSTF), was identified with an ATP-dependent chromatin remodeling activity. This novel ATP-dependent chromatin remodeling complex facilitates VDR-mediated transrepression as well as transactivation ...

We describe 2 patients with systemic juvenile idiopathic arthritis and macrophage activation syndrome. Treatment with recombinant interleukin 1 receptor antagonist (anakinra) and a corticosteroid rapidly induced remission, which could be maintained with anakinra monotherapy at a stable dose of 2 mg/kg per day. Pain at the injection site during the ...

The case of a 75-year-old man with a history of lymphoma, recent upper respiratory tract infection, and a protracted course of encephalopathy is presented. Radiologically, findings were consistent with posterior reversible encephalopathy syndrome. A brain biopsy revealed evidence of endothelial activation, T-cell trafficking, and vascular endothelial growth factor expression, suggesting ...

Oedema is a common clinical manifestation of nephrotic syndrome. However, the pathophysiological mechanism of sodium retention in nephrotic syndrome has been intensely debated for decades. Several clinical and experimental observations argue against the classic or "underfill" hypothesis of oedema formation in nephrotic syndrome. In many patients, oedema formation in nephrotic ...

The low prevalence of physical activity among African Americans and high risk of cardiovascular disease lends urgency to assessing the association between metabolic syndrome, abdominal obesity, and adherence to current physical activity guidelines. Few studies have examined this association among African American adults. We examined the association between demographic characteristics, ...

Florid cutaneous papillomatosis is an obligate paraneoplastic syndrome. Originally described by Schwartz and Burgess, and also known as the Schwartz-Burgess syndrome, it is a widespread eruption resembling viral warts yet with no evidence of human papilloma virus infection. We review this entity and its implications.

Hypergammaglobulinemic purpura of Waldenström is a rare syndrome that includes recurrent episodic purpura occurring mainly on the lower extremities and dorsum of the feet. The hallmark of this condition is polyclonal hypergammaglobulinemia primarily composed of IgG. Although the condition generally is benign, it may herald an underlying connective tissue disease ...

The hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) are rare diseases that manifest with thrombocytopenia and microangiopathic hemolytic anemia accompanied by renal and neurologic dysfunction. Most childhood cases of HUS are caused by Shiga-toxin-producing bacteria and have a good prognosis. The other form, atypical HUS (aHUS), accounts for ...

Idiopathic hypereosinophilic syndrome (IHES) is a heterogeneous spectrum of disorders characterized by hypereosinophilia and the presence of dysfunction in various end organs without an identifiable underlying cause. Neurological manifestations, including peripheral neuropathy, encephalopathy and cerebral thromboembolic or hemorrhagic disorders, can exist with IHES. We present a unique case of a ...

Cutaneous calcinosis can be classified into four types: dystrophic, metastatic, idiopathic and iatrogenic. Dystrophic calcification constitutes the most frequent variant and is associated with a large number of illnesses, among which are included some collagen diseases such as CREST syndrome, scleroderma, dermatomyositis and lupus erythematosus. We present a case of ...

This is a report of anterior osteophytes on the cervical vertebra resulting in distortion of the airway and leading to difficulty during intubation. The osteophytes associated with the syndrome of diffuse idiopathic skeletal hyperostosis were at the C2-3 and C6-7, T1 level and resulted in anterior displacement of the pharynx ...

We will describe the clinical case of a pregnant patient with chronic Immune Thrombocytopenic Purpura who develops preeclampsia syndrome with HELLP syndrome. These concomitant and independent conditions become complex, resulting in thrombocytopenia which creates diagnostic, prognostic and therapeutic inconveniences.

The pathophysiology of various types of thrombotic microangiopathies is coming progressively into focus. Therapeutic advances are likely to follow at a quickening pace. This discussion focuses on thrombotic thrombocytopenic purpura (TTP), the hemolytic-uremic syndrome (HUS), thrombotic microangiopathies associated with transplantation-immunosuppression or anti-angiogenesis therapy, and the preeclampsia/hemolysis-elevated liver enzymes and low ...

Thrombotic thrombocytopenic purpura (TTP) is an uncommon and potentially fatal syndrome which is due to either congenital or acquired deficiency of the ultra large von Willbrand's factor (ULVWF) cleavage protease. It is characterized by mechanical micro angiopathic hemolytic anemia, and organ dysfunctions.

A boy 3 years 7 months old with thrombocytopenia and history of intracranial hemorrhage who underwent bone marrow transplantation is presented. He was refractory to steroids, immunoglobulin G, vincristine, azathioprine, cyclosporine A, interleukin-11, chemotherapy, and splenectomy. Idiopathic thrombocytopenic purpura was excluded by light /electron microscopic and flow cytometric findings; the ...

Kabuki syndrome (KS) is often associated with autoimmune abnormalities, such as idiopathic thrombocytopenic purpura (ITP), autoimmune hemolytic anemia, leukoplakia and thyroiditis, as well as congenital anomalies. We herein present a KS patient with refractory ITP who achieved durable and complete remission in response to a total of four once-monthly infusions ...

Catastrophic antiphospholipid syndrome (APS) is caused by thrombotic vascular occlusions that affect both small and large vessels, producing ischemia in the affected organs as well as a systemic inflammatory response syndrome (SIRS). We report a case of a patient with idiopathic thrombocytopenic purpura (ITP) who developed massive cerebral ischemia due ...

Thrombotic thrombocytopenic purpura (TTP) was first described by Eli Moschcowitz in 1924. The pathophysiology of this disease is related to unusual, large multimers of von Willebrand factor in microcirculation, that are insufficiently cleaved by ADAMTS13 protease (a disintegrin-like and metalloprotease with thrombospondin type 1motif,13). Congenital TTP/Upshaw-Schulman syndrome is less frequent ...

Thrombotic microangiopathies constitute a heterogeneous group of diseases characterised by microangiopathic haemolytic anaemia and thrombocytopaenia associated with platelet aggregation in the microcirculation responsible for ischaemic manifestations. Classically, thrombotic microangiopathies are described as encompassing two main syndromes: thrombotic thrombocytopaenic purpura and the haemolytic-uraemic syndrome Many cases of idiopathic thrombotic thrombocytopaenic purpura ...

Idiopathic hypereosinophilic syndrome (HES) is a leukoproliferative disorder that is characterized by sustained overproduction of eosinophils and a trend towards damage to specific organs, usually the cardiovascular system. We report the case of a 76-year-old woman who was affected by idiopathic HES, which had an unusual and rapidly fatal course. ...

Purpura fulminans is a rare syndrome of intravascular thrombosis and hemorrhagic infarction of the skin that is rapidly progressive and accompanied by vascular collapse and disseminated intravascular coagulation. It usually occurs in children, but this syndrome has also been noted in adults. The purpose of this collective review is to ...

BACKGROUND: Ninety percent of cases of hypercalcaemia are due to primary hyperparathyroidism or hypercalcaemia of malignancy. OBJECTIVE: This article outlines the diagnostic features of primary hyperparathyroidism and determines who would benefit from parathyroidectomy. It also aims to raise awareness of familial hyperparathyroid syndromes. DISCUSSION: Diagnosis of primary hyperparathyroidism requires hypercalcaemia, ...

The commonest cause of isolated thrombocytopenia in an otherwise well child is idiopathic thrombocytopenic purpura (ITP). The inherited thrombocytopenias such as Bernard-Soulier syndrome are rare but often misdiagnosed as ITP owing to a similar clinical presentation. We describe a child with Bernard-Soulier syndrome who presented with isolated thrombocytopenia, mimicking ITP. ...

Evan's syndrome is a rare hematological condition defined as immune thrombocytopenic purpura and hemolytic anemia. We describe herein a case of Evan's syndrome diagnosed in a term pregnancy that was refractory to primary therapeutic options. We also describe current treatment options in pregnancy and briefly discuss the pathophysiology of Evan's ...

Acute idiopathic thrombocytopenic purpura is the most common cause of thrombocytopenia in childhood, and diagnosis of idiopathic thrombocytopenic purpura is made clinically based on the exclusion of other causes of thrombocytopenia. Patients with diverse causes of thrombocytopenia are sometimes erroneously diagnosed as having idiopathic thrombocytopenic purpura. However, for the prevention ...

Idiopathic hypereosinophilic syndrome is a rare condition characterized by extremely high peripheral blood eosinophil counts. Patients with idiopathic hypereosinophilic syndrome are at increased risk for thrombosis. The coexistence of idiopathic hypereosinophilic syndrome with other thrombotic disease is rare. We present an additional case of idiopathic hypereosinophilic syndrome and factor V ...

Sjogren's syndrome (SS) is an autoimmune disease that is characterized by exocrine gland involvement. It is reported that the skin is affected in nearly half of SS patients. Cutaneous manifestations consist of xerosis, angular cheilitis, eyelid dermatitis, pruritus, cutaneous vasculitis (frequently manifesting as palpable purpura), and erythema annulare. Most of ...

A 71-year-old woman with a history of Sjögren's syndrome presented for evaluation of a waxy nodule present on the scalp for 6 months. Histopathologic examination revealed deposition of homogenous eosinophilic material throughout the reticular dermis consistent with amyloidosis. Primary cutaneous nodular amyloidosis is a rare phenomenon characterized by the deposition ...

The clinical syndrome of fever, neurologic abnormalities, renal impairment with laboratory findings of thrombocytopenic and microangiopathic hemolytic anemia is seen in thrombotic thrombocytopenic purpura (TTP) and a variety of disorders associated with thrombotic microangiopathy (TMA). With improved understanding of the pathogenesis of the perturbed metabolic pathway of von Willebrand factor ...

The thrombotic microangiopathies are microvascular occlusive disorders characterized by hemolytic anemia caused by fragmentation of erythrocytes and thrombocytopenia due to increased platelet aggregation and thrombus formation, eventually leading to disturbed microcirculation with reduced organ perfusion. Depending on whether brain or renal lesions prevail, two different entities have been described: thrombotic ...

OBJECTIVE: The objective of our article was to highlight the important clinical and radiographic features of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. In particular, we emphasize those features that allow differentiation of CACP syndrome from juvenile idiopathic arthropathy. CONCLUSION: CACP syndrome should be considered in all patients who present with a noninflammatory ...

Infection with protozoan parasites of the genus Leishmania leads to a wide variety of clinical disease syndromes called leishmaniasis, or more appropriately the leishmaniases. The three major clinical syndromes are cutaneous leishmaniasis, mucosal leishmaniasis, and visceral leishmaniasis. All three of these syndromes have been documented in returning travelers. This article ...

The presence of central sensitization and cutaneous allodynia has not been readily studied in other primary headache syndromes outside of migraine. If central sensitization does occur, is the temporal profile any different in the short-lasting more aggressive syndromes such as SUNCT than in migraine? A patient with SUNCT was examined ...

Polycythemia vera is classified with myelogenous leukaemia, agnogenic myeloid metaplasia and primary thrombocythemia as a myeloproliferative syndrome. Cutaneous symptoms have been reported with polycythemia vera, including facial plethora, aquagenic pruritus, urticaria, purpura, Sweet's syndrome and pyoderma gangrenosum. However, polycythemia vera associated with systemic sarcoidosis has been rarely reported. An unusual ...

Milia-like idiopathic calcinosis cutis is a rare entity. Only 17 cases have been reported so far. Two-thirds of these have been associated with Down syndrome. We report the fifth case occurring in a child without Down syndrome. Milia-like idiopathic calcinosis cutis has long been regarded as a peculiar subtype of ...

BACKGROUND: Cardio-facial-cutaneous syndrome. AIM: To describe the clinical findings of a patient with cardio-facial-cutaneous syndrome and to characterize her communication. METHOD: To investigate the following areas: genetic, speech-language and hearing, otolaryngological, and psychological. RESULTS: Cardiac, cutaneous, and craniofacial alterations were observed, as well as cognitive deficits and significant language impairment ...

BACKGROUND: Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome are rare disorders characterized by platelet aggregation, microthrombi, and resulting tissue damage. We studied the incidence and possible risk factors for these diseases in 3 large populations in the United States, United Kingdom, and Canada. METHODS: Data were derived from a large ...

International travel and increasingly exotic diets have resulted in an increase in cases of cutaneous larva migrans in industrialized countries. A broader spectrum of clinical presentation and complications of cutaneous larva migrans is recognized by clinicians. A new syndrome, eosinophilic enteritis, has been described in Australia and may be more ...

Henoch-Schönlein purpura is characterized by immunoglobulin A1 (IgA1) depositions in blood vessels of the skin or in glomeruli, resulting from altered hinge region O-glycosylation. Henoch-Schönlein purpura is seldom reported as a complication of IgA1 myeloma, even when the circulating IgA concentration is very high. We report two patients with IgA1 ...

Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome occurs more commonly in women and among women is commonly associated with pregnancy. Case series of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome from 1964 to 2002 were reviewed (1) to document the reports of occurrence of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome during pregnancy and (2) to ...

Despite adequate bladder catheterization, a neonate with Prune Belly Syndrome developed urinary ascites secondary to forniceal rupture. Treatment consisted of bilateral cutaneous pyelostomies. Even though most children with Prune Belly Syndrome respond to lower urinary tract drainage, a cutaneous pyelostomy may be necessary when the ureters are tortuous and do ...

The recent discovery of important molecular and genetic mechanisms of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome provide an opportunity to reconstruct scientific and clinical paradigms. Acquired and congenital defects of the metalloprotease ADAMTS13 are a central feature in the pathogenesis of a major type of thrombotic microangiopathy. This and ...

A case of Charles Bonnet syndrome in an elderly patient with occipital lobe lesion is described. Authors have highlighted the complex interplay of various neurobiologicat factors such as cortical blindness, structural brain lesion and epileptiform brain activity in the pathophysiology of this syndrome. The impact on the clinical presentation of ...

A census of the sandfly fauna was undertaken in 1993-98 in 5 endemic leishmaniasis foci situated at different altitudes in Anzoátegui State, Venezuela. From the 17 species of Lutzomyia identified, we believe that Lu. ovallesi, Lu. panamensis and Lu. gomezi are the probable vectors of cutaneous leishmaniasis, while Lu. evansi ...

Prompt recognition of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) and initiation of plasma exchange treatment is critical as it substantially decreases mortality. Nevertheless, death and long-term complications remain common. The recent relaxation of diagnostic criteria has dramatically increased the number of patients treated for clinically suspected TTP-HUS.