Interstitial lung disease (ILD) may be associated with systemic inflammatory disorders and autoantibody production. The development of ILD has been described in detail in patients with polymyositis and dermatomyositis. Anti-synthetase antibodies, including anti-Jo-1 antibodies (antihistidyl-tRNA syntase), are found in up to 35 % of patients with myositis, 80 % of ...

The inclusion of a psychosis risk syndrome has been proposed for the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders. The appropriateness of inclusion of this new risk syndrome in the DSM depends on a careful analysis of both anticipated benefits and risks. Purported benefits include early ...

This paper discusses the contribution of Spanish neurologist Manuel Peraita (1908-1950) to the study of deficiency neuropathy in the setting of the Spanish Civil War (1936-1939). The clinical characteristics of "paraesthetic-causalgic syndrome" or "Madrid syndrome" as described by Peraita are discussed, and the syndrome is presented in relation to other ...

To show that disruption of meiotic competence results in cell cycle arrest, and the production of immature oocytes that are not capable of fertilization. Through an extensive review of animal studies and clinical case reports, we define the syndrome of oocyte maturation failure as a distinct oocyte disorder, present a ...

Cushing's syndrome is considered a rare disease and its diagnosis can be challenging. Establishment of evidence-based recommendations is difficult. In 2008, several national and international consensus recommendations for the diagnosis or management of Cushing's syndrome were reported. The Endocrine Society, with the participation of the European Society of Endocrinology, has ...

Myelodysplasia is a general term referring to abnormal development of the spinal cord. Unless associated with vertebral malformations, it can be difficult to distinguish clinically from other causes of spinal cord disease. These case reports describe the clinical and pathological findings in two calves with a distinctive non-progressive pelvic limb ...

There is a proposal to establish a paraphilic coercive disorder as a new paraphilia in the DSM-V. The empirical data do not, however, support the hypothesis that a distinct syndrome exists that comprises males who are sexually aroused by the coercive elements of rape per se. Purported evidence for this ...

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determination of the specific form requires genetic studies or specialized morphological ...

Myelodysplastic syndromes (MDS) are spectrum of bone marrow failure disorders that share a common pathologic feature: cytologic dysplasia. The classification of MDS reflects the understanding of the disease. It is hoped that in the future classification and risk stratification will be based on underlying pathobiology of different disease subsets and ...

Restless legs syndrome has attracted increasing interest as a clinically significant, common and treatable disorder. Good evidence suggests that dopaminergic drugs are the most effective first-line agents when symptoms are severe.

A majority of modern war wounds are caused by blasts and high-energy ballistics. Extremity injuries predominate since modern body armor does not protect these areas due to mobility limitations. A less known and more insidious mechanism of enemy attack among our soldiers involves treachery by the local populace posing as ...

Periodic limb movement (PLM) and Restless leg syndrome (RLS) are types of sleep disorders that are not very well recognized in clinical practice. While RLS is a clinical diagnosis, the diagnosis of PLM is made by polysomnography. They share the same pathophysiology and often respond to the same treatment. To ...

Preliminary therapeutic successes have prompted a new wave of clinical trials enrolling patients with myelodysplastic syndromes (MDS), using compounds with a broad range of potential mechanisms of action. This article discusses several of the agents currently in development for MDS, reviewing clinical trial data related to five classes of novel ...

PURPOSE OF REVIEW: Liver cirrhosis and portal hypertension present with three unique pulmonary complications that are the subject of ongoing clinical research: hepatopulmonary syndrome, portopulmonary hypertension (POPH), and hepatic hydrothorax. The present article is based on a review of the current literature on how to manage these disorders, which are ...

In oral cavity, the spectrum of diseases due to genetic alterations ranges from developmental disturbances of teeth to the pre-cancerous and cancerous lesions. Of late, significant progress has been made in the molecular analysis of tumors. With molecular genetic testing emerging as diagnostic, prognostic, and therapeutic approach, a review of ...

Asthma is a complex syndrome leading to the easily recognizable clinical feature of wheezing. This is believed to be caused by inflammation, constriction of the airway smooth muscles, and extensive mucus secretion. However, the mechanisms initiating and maintaining these simple clinical features are not well understood, even after 100 years ...

The metabolic syndrome is a complex metabolic disturbance due to an interaction between genetic factors, poor dietary habits and physical inactivity. To investigate the role of dietary intake on the prevalence of the metabolic syndrome in a population of elderly, socially active women in Brazil. A total of 284 women ...

In literature, the cerebellum is given a substantial role in cognitive processes, in addition to traditional views on cerebellar function of regulating motor behaviour. The phenomenon of cerebellar damage causing impairments in memory and executive functioning was observed in various cerebellar disorders. Cerebellar cognitive dysfunction can be interpreted as a ...

Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. The classical phenotype of KS is widely recognized, but many affected subjects present only very mild signs. While the association between KS and infertility has been well documented, ...

Many syndromes predisposing to cancer have dermatological features, which, although often subtle, will alert the clinician to the possibility of systemic malignancy. Many of these conditions are hereditary and are therefore also of relevance to the families of these patients. Early detection and appropriate genetic counselling is vital, as this ...

Oxidative stress is a phenotypic hallmark in several genetic disorders characterized by cancer predisposition and/or propensity to premature ageing. Here we review the published evidence for the involvement of oxidative stress in the phenotypes of Ataxia-Telangiectasia (A-T), Down Syndrome (DS), Fanconi Anaemia (FA), and Werner Syndrome (WS), from the viewpoint ...

There is a current debate as to whether "functional somatic syndromes" (FSSs) are more similar to or different from each other. While at the same time, there is evidence of heterogeneity within single syndromes. So, it could be that these syndromes are all part of one big process/illness, are discrete ...

Ramsay Hunt syndrome is a lower motor neurone weakness of the seventh (facial) cranial nerve caused by reactivation of the herpes zoster virus. The virus infects the geniculate ganglion of the nerve causing facial weakness. The onset of a motor neuropathy makes it inherently different from the more typical presentation ...

The cardiorenal syndrome is a relative frequent complication in patients with advanced heart failure (HF) and left ventricular dysfunction. Its presence is associated with a worse prognosis. The pathophysiology of cardiorenal syndrome may vary according to the specific clinical circumstances and conditions of the patients. Thus, the different factors that ...

This review begins by discussing the importance of clinical congestion as the dominant presenting manifestation of acute heart failure syndromes (AHFS). The pathophysiology of the cardiorenal syndrome is reviewed, including its relationship to the use of current therapy, that is, loop diuretics. The review then summarizes results from recent clinical ...

Shiga toxin-producing Escherichia coli (STEC) are important enteric pathogens worldwide, causing diarrhea with or without blood visibly present and hemolytic uremic syndrome. STEC are unique among diarrheogenic E coli in producing Shiga toxin type 1 and type 2, the virulence factors responsible for bloody diarrhea and hemolytic uremic syndrome. Cattle ...

Overactive bladder syndrome is a chronic condition that requires long-term management and is associated with a significant impairment in the quality of life of the individual as well as having an economic impact on healthcare. Behavioral interventions, along with lifestyle modifications, are effective, but medical management remains the mainstay of ...

Expanding athlete participation in high-altitude environments highlights the importance for a sports physician to have a good understanding of the high-altitude illness (HAI) syndromes: acute mountain sickness (AMS), high-altitude cerebral edema (HACE), and high-altitude pulmonary edema (HAPE). All may occur in the setting of acute altitude exposure higher than 2500 ...

Down syndrome, the most common genetic cause of intellectual disability, is associated with brain disorders due to chromosome 21 gene overdosage. Molecular and cellular mechanisms involved in the neuromorphological alterations and cognitive impairments are reported herein in a global model. Recent advances in Down syndrome research have lead to the ...

There are several recent advances in the diagnosis of Cushing's syndrome, or spontaneous hypercortisolism, in dogs. Diagnostic procedures are being reshaped by the recognition of new causes of the disease and advances in imaging procedures. This article reviews the clinical manifestations, diagnostic procedures, and the forms and causes of the ...

Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific ...

Hamartomatous polyposis syndromes are a rare group of hereditary autosomal dominant disorders that comprise less than 1% of all hereditary colorectal cancers. Hamartomatous polyps, in and of themselves, are benign entities; however, these hamartomatous polyposis syndromes have a malignant potential for the development of colorectal cancer as well as extracolonic ...

Marfan syndrome (MFS) is a relatively common inherited connective tissue disorder with significant morbidity and mortality. Diagnosis of this syndrome can be difficult, as many of the findings of MFS are present in other syndromes, as well as in the general population. MFS is diagnosed using the Ghent criteria, a ...

BACKGROUND: Hereditary gastrointestinal polyposis syndromes account for about 1% of all cases of colorectal cancer and are associated with a broad spectrum of extracolonic tumors. The early detection and accurate classification of these syndromes are essential, since effective methods for surveillance and treatment are available. METHODS: This review article is ...

Medial shelf or "plica" syndrome is a pathological condition of the knee that often follows knee injury in young athletes, the symptoms of which often mimic other internal derangements of the knee. Its anatomy, pathomechanics, and clinical presentation along with treatments suggested in the orthopedic literature are reviewed here. Two-year ...

Budd-Chiari Syndrome (BCS) is a rare cause of portal hypertension. Geographical variations occur, particularly in the clinical presentation, where there are distinct differences between West and South Asia. Idiopathic forms are common in south Asia, while hypercoagulable disorders are common causes of BCS in the West. The site of thrombosis ...

OBJECTIVE: To review the initial clinical manifestations of congenital and acquired lipodystrophy syndromes, discuss novel classifications associated with genetic mutations, and assess currently available therapeutic options for patients with lipodystrophy. METHODS: This review is the result of the authors' collective clinical experience and a comprehensive MEDLINE literature search on the ...

BACKGROUND: Paraneoplastic neurologic syndrome (PNS) represents the remote effects of cancer on the nervous system. Diagnostic criteria for the syndrome were published by the PNS Euronetwork and form the basis of a database to collect standardized clinical data from patients with PNS. OBJECTIVES: To analyze various types of PNS, frequent ...

The tip of an excessively long ulnar styloid can impinge upon the triangular fibrocartilage complex (TFCC) against the triquetrum. The subtleties in biomechanics of the wrist joint and their role in the production of the symptoms are presented as five cases from a retrospective study. The relationship of the symptoms ...

We describe dropped head syndrome in a patient with Parkinson's disease receiving subthalamic nucleus deep brain stimulation (DBS). Posterior occipitocervical instrumented fusion after transarticular screw fixation of an odontoid fracture is shown and its rationale explained. Pedunculopontine nucleus DBS as treatment for fall-predominant Parkinson's disease, and globus pallidus interna DBS ...

Abstract Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. ...

The bufodienolides are cardiac glycosides which have the ability to inhibit the enzyme, Na(+)/K(+) ATPase (sodium potassium adenosine triphosphatase). They are cardiac inotropes, cause vasoconstriction (and, potentially, hypertension) and are natriuretic. Evidence has accrued over time which supports the view that they are mechanistically involved in volume expansion-mediated hypertension. In ...

Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant ...

Facticious Disorders are self inflicted skin lesions and includes the creation of physical or psychiatric symptoms in oneself or other reference persons. In dermatology frequently, there are mechanical injuries by pressures, friction, occlusion, biting, cutting, stabbing, thermal burns or self-inflicted infections with wound-healing impairment, abscesses, mutilations or damages by acids ...

Correlations in behavioural traits across time, situation and ecological context (i.e. 'behavioural syndromes' or 'personality') have been documented for a variety of behaviours, and in diverse taxa. Perhaps the most controversial inference from the behavioural syndromes literature is that correlated behaviour may act as an evolutionary constraint and evolutionary change ...

Post concussion symptoms following mild traumatic brain injury are a difficult clinical state to conceptualise. The constellation of symptoms include those with an organic signature (and presumed organic aetiology), and those with overt psychological features. A seemingly trivial head injury may result in enduring symptoms. The validity of post concussion ...

Lyme disease is a multisystem infectious disease, endemic in parts of Europe, including the West of Ireland. Neurological manifestions (neuroborreliosis) are variable. Presenting neurological syndromes include meningitis, cranial neuropathies, myeloradiculitis and mononeuritis multiplex. A lack of specificity in serological diagnosis may add to diagnostic confusion. We reviewed thirty cases of ...

Diagnosing the specific type of severe intrauterine growth restriction (IUGR) that also has post-birth growth restriction is often difficult. Eight relatively common syndromes are discussed identifying their unique distinguishing features, overlapping features, and those features common to all eight syndromes. Many of these signs take a few years to develop ...

Pediatric short bowel syndrome (SBS) is most commonly caused by congenital or acquired conditions of the newborn. SBS is associated with an inability of the bowel to adequately absorb water and nutrients in sufficient quantities to meet caloric, fluid, and electrolyte demands, thus necessitating dependence on parenteral nutrition (PN). It ...

HGPS (Hutchinson-Gilford progeria syndrome) is a rare genetic disease affecting children causing them to age and die prematurely. The disease is typically due to a point mutation in the coding sequence for the nuclear intermediate-type filament protein lamin A and gives rise to a dominant-negative splice variant named progerin. Accumulation ...