Ecology Letters (2012) ABSTRACT: Interspecific trait variation has long served as a conceptual foundation for our understanding of ecological patterns and dynamics. In particular, ecologists recognise the important role that animal behaviour plays in shaping ecological processes. An emerging area of interest in animal behaviour, the study of behavioural syndromes ...

Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency, also known as severe congenital neutropenia syndrome 4, is characterized not only by neutropenia but also by impaired neutrophil energy homeostasis and functionality. We now show the syndrome is also associated with macrophage dysfunction, with murine G6pc3(-/-) macrophages having impairments in their respiratory burst, chemotaxis, ...

Proteus syndrome is a rare disorder with progressive asymmetric and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral ...

Sweet syndrome is characterized by painful, erythematous cutaneous lesions containing neutrophilic infiltrates. Although more commonly seen in adults, Sweet syndrome has also been recognized in several pediatric cases. Two previous cases of pediatric Sweet syndrome and 1 adult case have been described in chronic granulomatous disease (CGD) patients. We report ...

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic clinico-radiological diagnosis typically presenting with headache, encephalopathy and visual disturbance accompanied by a unique neuroradiological pattern of symmetrical parieto-occipital vasogenic oedema. Here we present the case of a 51-year-old woman who presented to hospital following a thunderclap headache, initially thought to be ...

Because of the diversity of clinical symptoms, the diagnosis of mitochondrial DNA (mtDNA) deletion disorders can be difficult. Here, we describe an 8-month-old boy presenting clinically exclusively with refractory anemia. Mutation analysis in our patient revealed a large, novel deletion in his mtDNA encompassing ATPase 6, cytochrome oxidase subunit III, ...

This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval, hospitalized patients with Guillain-Barré ...

OBJECTIVE: The Norwood procedure, the first surgical step of staged palliation for hypoplastic left heart syndrome, is also applied for other complex single-ventricle lesions with systemic outflow tract obstruction or aortic arch hypoplasia. We reviewed our 15-year institutional experience with the Norwood procedure for patients with and without hypoplastic left ...

Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal ...

We report a case of sepsis caused by Rhodococcus corynebacterioides, identified using 16S rRNA gene sequencing, in a myelodysplastic syndrome patient who had undergone hematopoietic stem cell transplantation. This is the first report of R. corynebacterioides infection in a human.

BACKGROUND: The cachexia anorexia syndrome is a complex metabolic syndrome associated with cancer and some other palliative conditions characterized by involuntary weight loss involving fat and muscle, weight loss, anorexia, early satiety, fatigue, weakness due to shifts in metabolism caused by tumour by-products and cytokines. Various neuropeptides like Leptin, neuropeptide ...

We conducted this study to gauge the health-related problems, quality of life and the performance of the Health Utility Index Mark 3 (HUI-3) in patients with syndromic and complex craniosynostosis. Patients with syndromic and complex craniosynostosis have various physical and mental problems. More insight on these problems, per syndrome, could ...

ABSTRACT: Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients ...

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age ...

Churg-Strauss syndrome (CSS) is a systemic necrotizing vasculitis of the small and medium vessels, associated with extravascular eosinophilic granulomas, peripheral eosinophilia and asthma. This is a rare syndrome of unknown etiology, affecting both genders and all age groups. CSS patients usually respond well to steroid treatment, although relapses are common ...

Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual ...

Limb anomalies are important birth defects that are incompletely understood genetically and mechanistically. GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly. A closely related Gli (glioma-associated oncogene homolog)-superfamily member, ZIC3, causes X-linked heterotaxy syndrome in ...

Methylene blue has been used not only as a diagnostic agent, but also as an agent in the treatment of ifosfamide-induced encephalopathy (IIE) for several years. Recently, several cases of suspected serotonin syndrome have been reported in patients who received methylene blue in combination with serotonin active agents. Rodent models ...

BACKGROUND: Recently, a number of reports have highlighted changes in the histopathology and response to corticosteroid treatment in childhood nephrotic syndrome; however, these involved ethnically mixed populations. For comparison, the purpose of our research was to search for changes in the characteristics of nephrotic syndrome in a homogeneous population of ...

Polycystic ovary syndrome (PCOS) is a complex syndrome of unclear etiopathogenesis characterized by heterogeneity in phenotypic manifestations. The clinical phenotype of PCOS includes reproductive and hormonal aberrations, namely anovulation and hyperandrogenism, which coexist with metabolic disturbances. Reflecting the crosstalk between the reproductive system and metabolic tissues, obesity not only deteriorates ...

Serotonin syndrome is associated with use of certain street drugs, including methamphetamine, cocaine, and ecstasy. We describe a case of a woman who developed clinical findings consistent with serotonin syndrome after insufflation of 3,4-methylenedioxypyrovalerone (MDPV), a synthetic amphetamine. MDPV belongs to a group of substances called phenylethylamines, which are β-ketone ...

Purpose: To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. Design: Non-interventional case report. Methods: A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic ...

In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Participants with fragile X syndrome ( n = 27), ages 10-17 years, were matched groupwise ...

The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery ...

Background:  There is confusion in the literature concerning disorders caused by EBP (emopamil- binding protein) mutations in males. Objective:  To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the ...

BACKGROUND: Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. AIMS: To investigate the phenotypic-genotypic correlations in Alpers syndrome and to identify potential differences among patients with Alpers syndrome with or without pathogenic POLG1 mutations. ...

Abstract Background: Obesity and metabolic syndrome are major health problems worldwide, including Turkey. Recent studies have shown an association between thyroid function tests and metabolic syndrome parameters. In this study, we aimed to determine the frequency of metabolic syndrome in an obese Turkish population and the relationship between metabolic syndrome ...

Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor ...

BACKGROUND: Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure. CASE-DIAGNOSIS/TREATMENT: We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first ...

Lowe syndrome is a devastating, X-linked genetic disease characterized by the presence of congenital cataracts, profound learning disabilities and renal dysfunction. Unfortunately, children affected with Lowe Syndrome often die early of health complications including renal failure. Although this syndrome was first described in the early 1950s and the affected gene, ...

ABSTRACT: BACKGROUND: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly ...

The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 ...

The renin-angiotensin system (RAS) is an important therapeutic target in the treatment of hypertension. Obesity has emerged as a primary contributor to essential hypertension in the United States and clusters with other metabolic disorders (hyperglycemia, hypertension, high triglycerides, low HDL cholesterol) defined within the metabolic syndrome. In addition to hypertension, ...

Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified ...

This study aims to assess the frequency and factors relevant to metabolic syndrome in workers employed in the collection and disposal of solid waste sector. This cross-sectional study was conducted in the major solid waste collecting and disposal company named İSTAÇ AŞ (İstanbul Environmental Protection and Waste Processing Corporation) in ...

Trigeminal trophic syndrome (TTS) is the historic name for neuropathic self-induced facial ulceration from abnormal sensory symptoms leading to uncontrolled scratching. Anatomic co-localization of sensory loss (numbness) plus neuropathic itch and pain permits painless scratching. If the itch is severe, some patients will scratch to the point of causing self-injury. ...

Atypical hemolytic uremic syndrome is a disease associated with mutations in the genes encoding the complement regulators factors H and I. In addition, factor H autoantibodies have been reported in ∼10% of patients with atypical hemolytic uremic syndrome. This study searched for the presence of factor I autoantibodies in atypical ...

Although antiphospholipid syndrome (APS) is a multisystem prothrombotic condition, its inflammatory nature has been increasingly recognized in recent years. Stroke and transitory ischemic attacks are the neurological manifestations included in APS criteria, however many other neurological involvements have been attributed to antiphospholipid antibodies (aPL), such as seizures, transverse myelitis, and ...

We report a case of anterior thigh compartment syndrome, which occurred after man's thigh was bruised after flipping repeatedly over his bike and being hit by the frame of the bike nearly at around 6 pm. The next day at 1:30 am, he was admitted to the hospital. The initial ...

ABSTRACT: Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad ...

The rising prevalence of obesity is a global concern. Eating behaviour and circadian rhythm are proving to be important factors in the aetiology of obesity. The night-eating syndrome (NES) is characterized by increased late-night eating, insomnia, a depressed mood and distress. It is evident that prevalence is higher among weight-related ...

Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in ...

Agonist triggering combined with oocyte vitrification and ET in a subsequent natural cycle avoids ovarian hyperstimulation syndrome in patients at risk and shows excellent cycle outcome.

ABSTRACT: BACKGROUND: Up to now, few data are available regarding the clinical characteristics of autoimmune hepatitis and primary biliary cirrhosis overlap syndrome. The study was to investigate and analyze the prevalent and clinical features of Chinese patients with this disease. METHODS: Clinical data on patients diagnosed as autoimmune hepatitis and ...

The subgingival microbiota in Down syndrome and non-Down syndrome adults receiving periodic dental care was examined for 40 bacterial species using checkerboard DNA-DNA hybridization and the results were related to clinical periodontal attachment loss. A total of 44 Down syndrome, 66 non-Down syndrome mentally retarded and 83 mentally normal adults ...

Heart failure syndromes are often associated with multi-organ dysfunction, and concomitant liver, renal, and neurologic involvement is very common. Neuro-hormonal antagonism plays a key role in the management of this syndrome, and angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are one of the cornerstones of therapy. Cardiorenal physiology is becoming ...

We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up ...

ABSTRACT: Myelodysplastic syndromes (MDS) are often accompanied by autoimmune phenomena. The underlying mechanisms for these associations remain uncertain, although T cell activation seems to be important. Human T-lymphotropic virus (HTLV-1) has been detected in patients with myelodysplastic syndromes, mostly in regions of the world which is endemic for the virus, ...

Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by ...

Advances in cancer genomics have led to the recognition of a growing number of high-penetrance single-gene cancer predisposition syndromes. Frequently, the suspicion for a hereditary syndrome is raised by a strongly positive family history. However, other features, such as younger-than-usual age at diagnosis and rare histology should also prompt consideration ...