Neuroendocrine changes in the hypothalamic-pituitary-thyroid axis during critical illness result in nonthyroidal illness syndrome (NTIS) characterized by abnormal thyrotropin (TSH) and thyroid hormone levels. Studies looking at the natural history of neuroendocrine changes during critical illness have revealed the presence of NTIS. NTIS has been described in a variety of ...

BACKGROUND: The clinical expressions of alcohol withdrawal syndrome (AWS) may vary and the factors determining these variations are not well-known. It would be useful to have a set of clinical tools capable of predicting which patients are likely to develop the more severe forms of the syndrome. AIM: To analyse ...

Mitochondrial disorders (MIDs) are an increasingly recognized condition. The second most frequently affected organ in MIDs is the central nervous system. One of the most prevalent clinical CNS manifestations of MIDs is ataxia. Ataxia may be even the dominant manifestation of a MID. This is why certain MIDs should be ...

Clinical decision making for patients with suspect hypercortisolism involves a complex diagnostic assessment. Cushing's syndrome remains one of the most challenging endocrine pathologies. Most clinical features overlap with those of common diseases found in the general population, and some patients have an atypical clinical presentation with only isolated symptoms. Recently, ...

Apheresis is a general term that describes removal of abnormal blood constituents by extracorporeal blood purification methods. To date, therapeutic plasma exchange (PE) is the most common apheresis procedure. Here, plasma is separated from corpuscular blood constituents and replaced with a substitution fluid. In contrast to immunoadsorption, PE is a ...

Dumping syndrome is a frequent complication of esophageal, gastric or bariatric surgery. Rapid gastric emptying, with the delivery to the small intestine of a significant proportion of solid food as large particles that are difficult to digest, is a key event in the pathogenesis of this syndrome. This occurrence causes ...

The type specimen (LB1) of Homo floresiensis has been hypothesized to be a pathological human afflicted with Laron Syndrome (LS), a type of primary growth hormone insensitivity (Hershkovitz et al.: Am J Phys Anthropol 134 [2007] 198-208). Comparing measurements, photographs and three-dimensional, computed-tomography reconstructions of LB1 with data and diagnoses ...

Cancer anorexia-cachexia syndrome (CACS) is a lethal but poorly defined involuntary wasting disorder. Loss of skeletal muscle and fat distinguishes it from starvation. Cachexia has been described as a clinical syndrome since ancient times, and the poor prognosis has long been acknowledged. In this article we have reviewed historical perspectives ...

Skewfoot is a rare deformity characterized by forefoot adduction and hindfoot valgus. Its etiology and natural history are unknown, although congenital and syndromic forms are observed. Currently, there is no consent about the treatment of skewfoot. Due to its potential resistance to the effects of therapy, it must be differentiated ...

We report successful treatment with electroconvulsive therapy of a comorbid condition including severe obsessive-compulsive symptoms and hypochondriacal delusions in a 38-year-old man with Asperger syndrome. His condition deteriorated into a severely disabled chronic state that was refractory to different pharmacological and psychological treatments but was completely reversed after electroconvulsive therapy. ...

Snapping scapula syndrome arises from either a soft-tissue or a skeletal anomaly within the scapulothoracic space that creates a cracking sound during scapulothoracic motion that patients associate with pain. Nonoperative measures consisting of supervised physical therapy, anti-inflammatory medications, and therapeutic injections are the mainstay of treatment. Open, arthroscopic, and combined ...

There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that ...

Johan Georg Raeder (1889-1959) was the most eminent Norwegian ophthalmologist in the early decades of the last century. Raeder made significant contributions to our current understanding of glaucoma. He is remembered for a syndrome he described, that of trigeminal nerve neuralgia and/or paresis and incomplete Horner's syndrome (oculopupillary sympathetic paresis). ...

Functional neuroendocrine tumors are often low-grade malignant neoplasms that can be cured by surgery if detected early, and such detection may in turn be accelerated by the recognition of neuropeptide hypersecretion syndromes. Uniquely, however, relief of peptic symptoms induced by hypergastrinemia is now available from acid-suppressive drugs such as proton-pump ...

The post-thrombotic syndrome (PTS) is a common but not completely understood and rarely studied sequela of an acute deep vein thrombosis. The influence of several risk factors on the incidence or severity of PTS is controversial. The therapeutic options for PTS are still limited. Appropriate medical compression stockings can reduce ...

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are ...

AIM OF THE REVIEW: To review the epidemiology, pathophysiology, treatment and prognostication in relation to the post-cardiac arrest syndrome. METHODS: Relevant articles were identified using PubMed, EMBASE and an American Heart Association EndNote master resuscitation reference library, supplemented by hand searches of key papers. Writing groups comprising international experts were ...

Diagnostic interpretation at auscultation of heart murmurs is accompanied by frequent errors. It creates serious clinical, pedagogical, organizational and social problems. The standard nosological principle of a clinical information description from the diagnosis (a disease name) to the description of symptoms/signs contradicts to real clinical practice from revealing of symptoms ...

Myelodysplastic syndromes (MDS) are a heterogeneous group of bone marrow disorders that affect mostly the elderly and have a variable probability of progression to acute leukemia. The diagnosis of MDS rests largely on a critical morphologic review of blood and bone marrow slides, with careful correlation with other clinical and ...

Accurate prediction of neurological outcome in survivors of cardiac arrest may be difficult. We report the case of a 44-year-old survivor of a hypoxic cardiac arrest who repeatedly developed relentless myoclonic jerks on attempted discontinuation of his propofol infusion. These were initially thought to represent myoclonic status epilepticus before the ...

Many children experience recurrent fevers with no easily identifiable source and only a careful follow-up helps in the early identification of other presenting symptoms of other defined conditions which require medical intervention. Autoinflammatory syndromes are rare childhood-onset disorders of the innate immunity in which recurrent flares of fever and inflammation ...

BACKGROUND: There are many conditions affecting the corneal endothelium with similar clinical appearances, though with different prognoses, management approaches, and pathophysiologic development. CASE: A 39-year-old black woman with a previous diagnosis of asymmetric corneal posterior polymorphous dystrophy (PPMD) presented complaining of irritation in the left eye, worsening over the last ...

Lambert-Eaton myasthenic syndrome is a paraneoplastic syndrome that may reveal a primitive tumor. Neuroblastoma in children and small cell lung carcinoma in adults are the leading tumors revealed or expressed by paraneoplastic phenomena. The clinical neurologic manifestations of Lambert-Eaton myasthenic syndrome are muscular weakness, sleepiness, absence of reflexes, and dysautonomia. ...

Autoimmune polyglandular syndromes are rare autoimmune endocrinopathies that are associated with nonendocrine autoimmunopathies. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2). Major disease components of APECED are adrenal insufficiency, hypoparathyroidism, and candidiasis. The diagnosis is established by the ...

Our aim in this review is to discuss currently known mechanisms associated with three important syndromes of the first and second pharyngeal arches: Treacher Collins syndrome (TCS), Oculo-auriculo-vertebral syndrome (AOVS) and Auriculo-Condylar syndrome (ACS) or question mark ear syndrome. TCS and ACS are autosomal dominant diseases, with nearly complete penetrance ...

Progeroid syndromes are a group of diseases characterized by signs of premature aging. These syndromes comprise diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford syndrome, Fanconi anemia, and ataxia-telangiectasia, as well as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. Clinical symptoms of premature aging are skin atrophy with loss ...

Since identification of the autoantibodies in Fisher syndrome, remarkable progress has been made in our understanding of that syndrome and related conditions. Because of the similarities in the clinical presentations of it and Bickerstaff brainstem encephalitis, opinions differ as to whether the two are distinct or related syndromes and whether ...

Waldenstrom's macroglobulinemia (WM) is a chronic lymphoproliferative disorder within the spectrum of lymphoplasmacytic lymphoma characterized by proliferation of plasma cells, small lymphocytes, and plasmacytoid lymphocytes. Central nervous system involvement is very rare (Bing-Neel [BN] syndrome). We present the case of a 62-year-old woman previously diagnosed with WM who presented with ...

AIM OF THE REVIEW: To review the epidemiology, pathophysiology, treatment and prognostication in relation to the post-cardiac arrest syndrome. METHODS: Relevant articles were identified using PubMed, EMBASE and an American Heart Association EndNote master resuscitation reference library, supplemented by hand searches of key papers. Writing groups comprising international experts were ...

Wild birds of several species are dying in large numbers from an idiopathic paralytic disease in the Baltic Sea area. Here, we demonstrate strong relationships between this disease, breeding failure, and thiamine (vitamin B(1)) deficiency in eggs, pulli, and full-grown individuals. Thiamine is essential for vertebrates, and its diphosphorylated form ...

Macrophage activation syndrome (MAS) is a clinical syndrome caused by an excessive proliferation of T lymphocytes and well-differentiated macrophages; an entity distinct from malignant histiocytosis. Although rheumatologic conditions are the common cause of MAS, a wide range of infections are also seen to cause MAS. We report an adolescent with ...

OBJECTIVES: The increase in hemoglobin (Hb) F level is variably associated to the presence of beta thalassemia trait, and is more typical in presence of deltabeta thalassemia and of hereditary persistence of fetal hemoglobin. In normal healthy subjects variable levels of HbF are related to the presence of the polymorphism ...

The existence of a syndrome linking dispersal rate and mating system has long been debated in evolutionary ecology, especially in plants. Some verbal models hypothesize that the ability to self-fertilize may be associated with high dispersal, since completely outcrossing species cannot reproduce when they disperse to an empty destination site. ...

Neurologic paraneoplastic syndromes (NPSs) result from damage to the nervous system due to the remote effects of cancer not related to metastasis, infection, or metabolic derangements. NPSs are rare, affecting 1 in 10,000 patients with cancer. Pathogenesis is likely related to the immune mechanisms: normal neural tissue is mistakenly attacked ...

BACKGROUND: A complex network of biological mediators underlies the clinical syndrome of sepsis. The nonspecific physiologic criteria of sepsis syndrome or the systemic inflammatory response syndrome do not adequately identify patients who might benefit from either conventional anti-infective therapies or from novel therapies that target specific mediators of sepsis. Validated ...

Beckwith-Wiedemann syndrome is a congenital syndrome with some anomaly in overgrowth. Most common manifestations are exomphalos, macroglossia, gigantism, and visceromegaly. Overgrowth in tongue's size caused clinical symptoms such as dysphagia, speech disorder, strong in chewing, upper-airway obstruction, and psychological problems with appearance. Cold surgical techniques are commonly used in treating ...

Eagle's syndrome represents symptoms brought on by compression of regional structures by elongation of the styloid process or ossification of the stylohyoid or stylomandibular ligaments. Watt Eagle described it for the first time in 1937, dividing it into two subtypes: the "classic syndrome" and the "stylo-carotid artery syndrome." Many theories ...

Tumor necrosis factor alpha antagonists have proven efficacious for a variety of autoimmune-mediated diseases. However, recent data have highlighted the risk of invasive fungal infections with their use. These agents are typically discontinued when infectious complications occur during therapy; however, the immune reconstitution inflammatory syndrome (IRIS) may be seen after ...

Acute heart failure syndromes (AHFS) remain a major cause of morbidity and mortality, in part because the development of new therapies for these disorders has been marked by frequent failure and little success. The heterogeneity of current approaches to AHFS drug development, particularly with regard to end points, remains a ...

Meckel's diverticulum (MD) is the most frequent congenital abnormality of the small bowel and it is often difficult to diagnose. It is usually asymptomatic but approximately 4% are symptomatic with complications such as bleeding, intestinal obstruction, and inflammation. The authors report a case of a 7-year-old boy with a one-year ...

Complex Regional Pain Syndrome (CRPS) is clinically characterized by pain in combination with sensory, autonomic, and motor symptoms that may include weakness, tremor, myoclonus and dystonia of the affected limb(s). The syndrome is multifactorial in origin and mostly attributed to tissue injury. There is some evidence that the human leukocyte ...

Cotard's syndrome is a rare disorder in which nihilistic delusions concerning one's own body are the central feature. It is not listed as a specific disorder in the DSM-IV, as it is typically viewed as a part of other underlying disorders. However, it remains important to recognize the syndrome because ...

The delusional misidentification syndromes (Capgras' syndrome, Frégoli syndrome, intermetamorphosis syndrome, syndrome of subjective doubles) are rare psychopathologic phenomena that occur primarily in the setting of schizophrenic illness, affective disorder, and organic illness. They are grouped together because they often co-occur and interchange, and their basic theme is the concept of ...

The autoimmune polyendocrinopathy syndromes are variable in presentation and can be challenging to diagnose and manage. Diagnosis of the type 1 autoimmune polyendocrinopathy syndrome can be difficult at an early age when often only one manifestation is present, and it may take years for others to appear. Increased awareness of ...

The clinical application of Chinese herbal medicine should be based on syndrome differentiation in traditional Chinese medicine (TCM), and the pharmacological evaluation of herbal medicine in new drug discovery should be also based on the TCM syndrome differentiation. To clarify the Chinese herbal characteristics and mechanisms of action through pharmacological ...

Vomiting directly attributable to SLE occurs in approximately 8% of patients, and its causes are sometimes obscure when common conditions are ruled out. Cyclic vomiting syndrome is a common functional disorder which usually starts from childhood. We report the first two cases of patients affected by systemic autoimmune conditions associated ...

PURPOSE OF REVIEW: Adrenal incidentaloma has become a frequent clinical dilemma. Even in the absence of specific clinical features of Cushing's syndrome, adrenocortical incidentalomas may display steroid secretory activity at different degrees. The recognition of endocrine and metabolic dysfunctions associated with subclinical hypercortisolism leads to current awareness about its potential ...

There are many obstetric, medial, and surgical disorders that share many of the clinical and laboratory findings of patients with severe pre-eclampsia-eclampsia. Imitators of severe pre-eclampsia-eclampsia are life-threatening emergencies that can develop during pregnancy or in the postpartum period. These conditions are associated with high maternal and perinatal mortalities and ...

Geriatric syndromes are common problems that affect older adults. They are often thought of as causes of morbidity in one or more functional domains, but they can simultaneously be a consequence of morbidity as well. This primer will cover 12 problems commonly considered to be geriatric syndromes and highlight the ...

BACKGROUND: Behavioural phenotypes associated with genetic syndromes have been extensively investigated in order to generate rich descriptions of phenomenology, determine the degree of specificity of behaviours for a particular syndrome, and examine potential interactions between genetic predispositions for behaviour and environmental influences. However, relationships between different aspects of behavioural phenotypes ...