"Burnout syndrome" is now a common reason for medical excuses from work, and thus an important topic in health-related economics. Much research is still needed, however, to establish the scientific basis for this entity, the criteria by which it might be diagnosed and classified, and how it should be treated. ...

During the Nazi period experimentation on human subjects and the elimination of individuals considered to be unproductive members of society were carried out in a systematic fashion. Involved in these practices were many physicians, including dermatologists whose names are linked in one way or another to their specialty. Some, such ...

The role of extracorporeal membrane oxygenation (ECMO) in supporting adult refractory respiratory failure continues to evolve. Technical advances and the clinical challenges of H1N1 associated severe ARDS have spurred a resurgence of interest in ECMO. Published systematic review and pooled analyses point out the limitations of available studies, however, a ...

The opsoclonus-myoclonus syndrome is a rare and distinct neurological disorder characterised by rapid multidirectional conjugate eye movements (opsoclonus), myoclonus and ataxia, along with behavioural changes in adults and irritability in children. Sometimes it is due to a self-limiting presumed para-infectious brainstem encephalitis but it may also represent a non-metastatic manifestation ...

We report on a 7-year-old immunocompetent boy initially presenting with right-sided frontal cephalalgia, painful ophthalmoplegia, and ptosis for 1 month. Initial cerebrospinal fluid analysis produced normal results. Magnetic resonance imaging revealed an inflammatory pseudotumor of the right cavernous sinus after intravenous gadolinium administration, indicating a rare idiopathic inflammatory disorder of ...

ABSTRACT: Metabolic syndrome (MetS) is a complex disorder defined by a cluster of interconnected factors that increase the risk of cardiovascular atherosclerotic diseases and diabetes mellitus type 2. Currently several different definitions of the MetS exist, causing substantial confusion, as to whether they identify the same individuals or represent a ...

"PFAPA syndrome" is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined yet. Corticosteroids are the mainstay in the treatment ...

Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their ...

The metabolic syndrome is a common disorder characterized by central (especially intra-abdominal) obesity, hypertension, impaired glucose tolerance and atherogenic dyslipidemia (including the combination of hypertriglyceridemia and low levels of high-density lipoprotein cholesterol). In this article, the authors review interventions to improve this lipid profile and potentially reduce the risk of ...

This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, ...

Acupuncture has a long tradition of use for the treatment of many pain conditions, including headache. Its effectiveness has been studied mainly for primary headaches, particularly for migraine and tension-type headache (TTH). Traditional Chinese Medicine (TCM) has two diagnostic frameworks for headaches: meridian diagnoses, based on the location of the ...

Movement disorders usually do not require emergent intervention; nevertheless, there are acute/subacute clinical settings in which the neurologist is consulted. It is in these circumstances that the neurologist must be prepared to accurately diagnose and properly treat the patient. We have reviewed the literature regarding movement disorder emergencies and divided ...

Cowden syndrome, also known as multiple hamartoma syndrome, is a rare autosomal dominant disorder characterized by multiple hamartomas and a high risk of development of malignancy. Oral findings, such as papillomatous lesions and fibromas, are common features; however, a periodontal phenotype has not been reported previously. Therefore, this report presents ...

Asperger Syndrome (AS) is characterized by a qualitative disorder of social interaction, a pattern of restrictive, repetitive and stereotyped behavior, interests and activities, with normal intellectual capacity and normal language skills in the areas of grammar and vocabulary. Since its inclusion in international taxonomies, there has been much controversy regarding ...

This article gives a comprehensive review and illustrations of the imaging features of various pathological conditions and clinical syndromes associated with cerebral hemispheric involvement. The various conditions are described and defined to provide a basis for the differential diagnostics. The hypotheses relating to the pathology of the various syndromes are ...

Fragile X syndrome is caused by CGG trinucleotide repeat expansion within the fragile X mental retardation 1 gene, when repeat number exceeds 200. The typical psychiatric profile of fragile X syndrome patients includes cognitive and behavioral deficits, psychiatric comorbidity, and autistic characteristics. Specific psychiatric features have not yet been clarified, ...

Aim:  The aim of the study was to evaluate the prevalence and risk factors of premenstrual disorders among Polish adolescent girls. Material and Methods:  A total of 2500 females from the Upper Silesian region of Poland, aged 16 to 45 years, were eligible for a prospective population-based study. The subjects were ...

Background and Purpose:  Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods:  The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified using the Electronic Medical Record system of Mayo Clinic. Results:  The average age at ...

The ALS/parkinsonism-dementia complex of Guam is a long latency disease with a diverse phenotypic expression characteristic of classical ALS, parkinsonism and dementia. It is remarkably similar to a syndrome localized to the Kii Peninsula of Japan. There are as yet no identified pathological features that will clearly distinguish the Guam ...

Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to obesity in BBS, with emphasis on the recent evidence pointing to aberrations in hypothalamic action of ...

Sporadic inclusion body myositis (sIBM) usually occurs as an isolated condition, but it may occur in association with another autoimmune disorder such as Sjögren's syndrome. We reviewed sIBM cases with Sjögren's syndrome (sIBM/SS) from the Perth Inflammatory Myopathies Database to determine whether they are distinguishable from other sIBM cases. Six ...

The study of distinctive and consistent behaviors in the most common genetic syndromes with Intellectual Disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aims of our study was to compare similarities and differences in the ...

Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In this report we will explore ...

Autoimmune lymphoproliferative syndrome (ALPS), a disorder of programmed cell death, could be due to a congenital defect in the Fas signaling pathway or other pathways for apoptosis. Most cases present with lymphoproliferation and certain autoimmune features such as thrombocytopenia, neutropenia, and anemia are due to excessive production of antibodies by ...

PURPOSE OF REVIEW: Inherited forms of mineralocorticoid hypertension are a group of monogenic disorders that, although rare, have enlightened our understanding of normal physiology, and subsequent processes implicated in the pathogenesis of 'essential' hypertension. They often present in early life and can be a cause of major morbidity and mortality ...

Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe ...

Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric emergency, which is life-threatening when recognized too late. The clinical presentation varies from the classical form of SCID through atypical SCID to Omenn syndrome. In ...

The first synthesis of ganglioside GalNAc-GD1a, featuring efficient glycan assembly and a cyclic glucosyl ceramide as a versatile unit for ganglioside synthesis is described. Although ganglioside GalNAc-GD1a was first found as a brain ganglioside, IgG autoantibodies to GalNAc-GD1a were subsequently found to be closely related to a human peripheral-nerve disorder, ...

One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 ...

SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare disease. Presently, there is no treatment guideline for this illness. Several studies suggested entercept, a novel biological agent against tumor necrosis factor-alpha, is effective in treating SAPHO syndrome. We report a case in which the clinical conditions of a ...

Functional gastrointestinal disorders (FGIDs) are common in clinical practice and in communities around the world, including Korea. In a recent point prevalence study on functional dyspepsia (FD) in Korea using the Rome III criteria, 13.4% of community respondents reported dyspepsia. Forty-seven percent of these FD cases were classified as postprandial ...

We report a case of a woman who underwent in-vitro fertilisation embryo transfer treatment for infertility and developed an acute stroke (left hemiparesis and headache). The stroke was caused by cerebral venous thrombosis due to ovarian hyperstimulation syndrome. We review the current background about this uncommon disorder.

A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the latter two non-DBA disorders of ribosome function. Both SDS ...

Hyper Immunoglobulin E Syndrome, or Job's Syndrome, is a rare multisystem disorder that classically presents in early childhood with a triad of clinical manifestations that include severe eczematous dermatitis, recurrent infections (skin and lung), and elevated serum immunoglobulin E. Hyper Immunoglobulin E Syndrome is a relatively uncommon condition and as ...

The term New Daily Persistent Headache (NDPH) has been used for nearly 25 years and yet the entity remains enigmatic. It can be argued the simplest, indeed most appropriate, approach is to use the term to mean simply what it says- i.e. as an umbrella description, rather like chronic daily ...

Proteus syndrome is a complex disorder characterized by a wide variety of deformities including macrodactyly. In the present report, we present a case with complex macrosyndactyly in his hand. The patient was surgically treated. However, he admitted with lymphangiomas on his body during the follow-up period, leading to the diagnosis ...

A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS members. Detailed clinical assessment guidelines of tic ...

To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment ...

Background.- The association of headache with transient neurological deficits and cerebrospinal fluid lymphocytosis (HaNDL) is recognized as a distinct benign, self-limited headache syndrome. Aphasic, sensory and motor disturbances predominate the clinical picture and to our knowledge, only 2 detailed cases of confusion and agitation have been previously described. Case.- We ...

Congenital and acquired neutropenia are rare disorders whose frequency in pediatric age may be underestimated due to remarkable differences in definition or misdiagnosed because of the lack of common practice guidelines. Neutropenia Committee of the Marrow Failure Syndrome Group (MFSG) of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) elaborated this document ...

Dysplasia of the cerebellar dentate nucleus is a state of apparent maturational arrest that involves the cerebellar dentate nucleus. Origins include Joubert syndrome, other disorders of axon guidance and dentato-olivary dysplasia. An overview is given, linking the diverse etiologies.

BACKGROUND: Patients present to police, Emergency Medical Services, and the emergency department with aggressive behavior, altered sensorium, and a host of other signs that may include hyperthermia, "superhuman" strength, diaphoresis, and lack of willingness to yield to overwhelming force. A certain percentage of these individuals will go on to expire ...

Drug-induced hypersensitivity syndrome is a toxicoderma with systemic involvement. Suspicion of this disorder obliges rapid withdrawal of the suspected drug, which may have been introduced up to 3 months earlier. Screening for human herpesvirus (HHV) 6 reactivation is important both for its diagnostic value and for its association with a ...

Headache is one of the most common symptoms in children and adolescents, and headache syndromes are an important reason for medical consulting. According to the second edition of the International Classification of Headache Disorders, there are 196 possible headache diagnoses, of which 113 have been described in pediatric population. Herein, ...

In the majority of cases, mitochondrial disorders are multisystem conditions that most frequently affect the skeletal muscle, followed by the central nervous system. One of the clinical manifestations of central nervous system involvement is Parkinson's syndrome (PS). Evidence for an association of mitochondrial defects with PS comes from mitochondrial disorder ...

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal ...

Noonan syndrome (NS) and neurofibromatosis type 1 (NF1) are well-defined entities. The association of both disorders is called neurofibromatosis-Noonan syndrome (NFNS), a disorder that has been related to mutations in the NF1 gene. Both NS and NFNS display phenotypic overlapping with LEOPARD syndrome (LS), and differential diagnosis between these two ...

The purpose of this paper is to review recent discussion about the possibility of including a new category in the next version of the DSM (DSM-5) for the 'at risk mental state' or the 'psychosis risk syndrome'. A number of issues have been addressed by commentators in the field, including ...

We report a patient with Crohn's disease who presented with renal insufficiency and the nephrotic syndrome after initiating therapy with adalimumab. Renal biopsy showed stages 2 to 3 membranous glomerulonephritis, and immunostaining showed glomerular deposition of immunoglobulin G and C3. The patient's serum creatinine decreased after discontinuation of adalimumab, and ...

Neutrophilic dermatoses include a spectrum of disorders with similar histologic appearance and pathologic processes. Clinically, however, they have different physical manifestations and associations. This group includes two diseases for which dermatologists are commonly consulted in the hospital, namely pyoderma gangrenosum and acute febrile neutrophilic dermatosis, or Sweet's syndrome. Evaluation is ...