Infectious mononucleosis (IM) is a clinical syndrome most often attributable to Epstein-Barr virus (EBV). Characteristic clinical features of EBV IM include bilateral upper lid edema, exudative or nonexudative pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly ± maculopapular rash. Laboratory features of EBV IM include atypical lymphocytes and elevated levels of ...

Guillain-Barré syndrome (GBS) is a neurological emergency that warrants prompt diagnosis and treatment. Occasionally, the clinical, laboratory and electrophysiological features are neither typical nor diagnostic. It requires a high index of suspicion and clinical judgement for early diagnosis and commencement of treatment in those scenarios. Some pathogens are potential triggers ...

Recently, the National Institute of Justice (NIJ) of the United States of America convened a meeting of experts in the area of Excited Delirium Syndrome (ExDS). The history of ExDS, the clinical presentation, the pathophysiology, differential diagnoses and management options were discussed. Though the specific pathophysiological pathways of ExDS have ...

Angioedema is an increasing cause of hospitalizations in the United States. This syndrome presents with non-pitting, asymmetric swelling of the face, lips, tongue, larynx, genitalia, and extremities, although any part of the body can be involved. Common causes of angioedema include allergic reactions and ACE inhibitors. Hereditary angioedema is a ...

Purpose: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. Background: Oculo-auricular syndrome (MIM: 612109) is a rare developmental condition affecting the eye and external ear that results from a mutation in the HMX1 gene. ...

The aim of our study was to review our experience with a modified technique of laparoscopic ovarian drilling (LOD) using a monopolar hook electrode. We retrospectively included 38 clomiphene-resistant women with polycystic ovary syndrome undergoing LOD. A laparoscopic monopolar hook electrode was used to make three to six incisions in ...

Hypokalemia accentuates the electrocardiographic (ECG) pattern of Brugada syndrome. We report two patients with Brugada syndrome and hypokalemia-induced lethal events. Despite concealing the typical ECG pattern with normalization of serum potassium levels, late potentials were persistently detected by signal-averaged ECG, even at the 18-month follow-up. An implantable cardioverter defibrillator was ...

Metabolic syndrome, as manifested by visceral obesity, hypertension, insulin resistance, and dyslipidemia, is reaching epidemic proportions in the Western World, specifically the United States. Epidemiologic studies suggest that the increased prevalence of metabolic syndrome directly correlates with an increase in the consumption of fructose, mainly in the form of high-fructose ...

To present a patient with acute idiopathic blind spot enlargement syndrome who had abnormal changes in the outer retinal microstructure limited to areas with reduced responses on multifocal electroretinograms as well as to the area involving a scotoma. We report the case of a 44-year-old man who developed an arcuate ...

Objective: To characterize visual function in defined genotypes including siblings with Usher syndrome. Methods: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography ...

Motor problems in Prader-Willi syndrome (PWS) are presumably related to abnormal body composition and certain neuromuscular abnormalities. The authors reviewed the literature to evaluate the extent to which body composition is affected and gathered all findings on neuromuscular functioning in PWS. A systematic review was conducted in four databases (1956-2010). ...

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. ...

Recent studies demonstrate that many Bipolar Disorder (BD) patients experience mild symptoms and/or suffer significant functional impairment during periods of syndromal remission, suggesting greater relapse risk and need for more intensive therapeutic strategies. However, most studies have cross-sectional designs and other methodological limitations. This study aimed to prospectively evaluate whether ...

Improvements in medical interventions for people with Down's syndrome have led to a substantial increase in their longevity. Diagnosis and treatment of neurological complications are important in maintaining optimal cognitive functioning. The cognitive phenotype in Down's syndrome is characterised by impairments in morphosyntax, verbal short-term memory, and explicit long-term memory. ...

The second of this two part series on 'cracked tooth syndrome' will focus on the available methods for the immediate, intermediate and definitive management of patients affected by this condition. Included in this article is a comprehensive account of the relative merits/drawbacks of various restorative materials and their respective techniques ...

Rett syndrome is a neurodevelopmental disorder that is a direct consequence of functional mutations in the methyl-CpG-binding protein-2 (MeCP2) gene, which has focused attention on epigenetic mechanisms in neurons. MeCP2 is widely believed to be a transcriptional repressor although it may have additional functions in the CNS. Genetic mouse models ...

Tilted disc syndrome can cause visual field defects due to an optic disc anomaly. Recent electrophysiological findings demonstrate reduced central outer retinal function with ophthalmoscopically normal maculae. We measured macular sensitivity with the microperimeter and performed psychophysical assessment of mesopic rod and cone luminance temporal sensitivity (critical fusion frequency) in ...

This study aimed to investigate empirically how and in what way individuals with symptoms of functional somatic syndromes should be classified. We also aimed to look into genetic and environmental influences on the classification. A total of 28,531 twins aged 41-64 underwent screening interviews via a computer-assisted data collection system ...

Duane Retraction Syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI to develop normally, resulting in restriction or absence of abduction, restricted adduction and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Patients with Duane Retraction Syndrome appear to ...

Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance ...

OBJECTIVE: To examine the functional neuroanatomy that could account for pure Gerstmann syndrome, which is the selective association of acalculia, finger agnosia, left-right disorientation, and agraphia. METHODS: We used structural and functional neuroimaging at high spatial resolution in healthy subjects to seek a shared cortical substrate of the Grundstörung posited ...

PURPOSE: To determine whether normal function and structure, as recently found in forms of Usher syndrome, also occur in a population of patients with nonsyndromic retinitis pigmentosa (RP). METHODS: Patients with simplex, multiplex, or autosomal recessive RP (n = 238; ages 9-82 years) were studied with static chromatic perimetry. A ...

In 1997, the genetic basis for the Angelman syndrome was identified as disruption of the UBE3A/E6-AP gene, an important protein component is the ubiquitin degradation pathway. During the last decade, increasing attention has been focused on this gene and how it functions within neurons, especially how it regulates protein homeostasis ...

Vertical retraction is a special form of retraction syndrome. In the past, the cause of this retraction has been thought to be a limiting fibrous band at the level of the inferior rectus muscle rather than co-contraction. Here the authors present a girl with unilateral retraction in upgaze and report ...

Constriction band syndrome is an uncommon congenital abnormality with multiple disfiguring and disabling manifestations. Early amnion rupture with subsequent entanglement of fetal parts by amniotic strands is currently the primary theory for the development of this syndrome. Management of constriction band syndrome is focused on improving function and development while ...

OBJECTIVE: To describe the presentation and outcome of a patient with an unusual association of VATER/VACTERL syndrome (vertebra/anus/cardiac/trachea/esophogus/radius/renal/limb) and noncommunicating functioning uterine horn and a unicornuate uterus. DESIGN: Descriptive case report. SETTING: A foundation trust in the United Kingdom. MATERIALS AND METHOD(S): A patient known to have VATER/VACTERL syndrome was ...

The upper motor neuron (UMN) syndrome is a collection of interactive positive signs (associated with spastic hypertonia) and negative signs, such as muscle weakness and loss of voluntary control. In clinical practice, the distinction between active and passive functions allows identifying appropriate treatment objectives. During the last decades, many studies ...

BACKGROUND:This study investigated whether the Diagnostic Criteria for Psychosomatic Research (DCPR) were able to predict psychosocial functioning in addition to psychiatric diagnoses and somatization in consultation-liaison psychiatry (CLP) patients. METHOD: A consecutive sample of 208 CLP patients were recruited and assessed for sociodemographic and medical data, psychopathology (SCID), psychosomatic syndromes ...

Biodegradable poly(L-lactide) (PLLA)/multiwalled carbon nanotubes (MWNTs) nanocomposites were prepared via solution blending using two kinds of MWNTs, i.e., pristine multiwalled carbon nanotubes (p-MWNTs) and carboxyl-functionalized multiwalled carbon nanotubes (f-MWNTs). Various techniques were used to investigate the functionalization of MWNTs on the morphology, crystallization, and hydrolytic degradation of PLLA in the ...

Kartagener syndrome is diagnosed as sinusitis, bronchitis (bronchiectasis), and situs inversus by the clinical features. It is a subclass of primary ciliary dyskinesia (PCD) disease. A 12-year-old girl who had frequent upper and lower airway infections since birth, which was confirmed as Kartagener syndrome by HRCT imaging. We present the ...

The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. Twenty-four patients were assessed with a battery of tests assessing visual function including ophthalmological and orthoptic ...

BACKGROUND: The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. AIMS: To assess if intranasal ...

Duane retraction syndrome is a congenital oculomotor disorder characterized by horizontal eye movement limitations with palpebral fissure narrowing and globe retraction on attempted adduction. Recent reports showed the absence of the subarachnoid part of the abducens nerve on magnetic resonance imaging (MRI) in types I and III. We present a ...

OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that ...

INTRODUCTION: The surgical correction of anomalous movement such as upshoot in Duane syndrome is challenging. Lateral rectus muscle disinsertion and reattachment to the lateral orbital wall is a new approach used to minimize or eliminate the effects of co-contraction including globe retraction, palpebral fissure narrowing and anomalous vertical movement. CASE ...

ABSTRACT: A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early ...

OBJECTIVE: To review the evidence for overlap in the phenomenology of the Functional Somatic Syndromes (FSS). The FSS show considerable comorbidity, leading some to suggest they may be aspects of the same disorder. METHODS: We conducted a selective review of peer-reviewed articles on the co-occurrence of FSS symptoms and diagnoses. ...

This article reviews studies investigating cognitive ability and academic achievement of students with Asperger syndrome (AS) and high-functioning autism (HFA). Particular emphasis is placed on the mathematical ability of people with AS/HFA. A preliminary analysis of empirical data is presented. Findings indicate that: (1) the majority of individuals with AS/HFA ...

Heck-type 4-exo-trig cyclization of linear 2-enol triflate-1,5-hexadienes provides functionalized methylene cyclobutanes. Intramolecular palladium coordination can initiate beta-hydride elimination leading to 1,2-dimethylene cyclobutane derivatives, which are obtained with high selectivity if substrates having a geminal diphenyl group at Calpha are used. In parallel, formal 5-endo-trig cyclization and beta-hydride elimination form 1-methylene ...

The WAIS III was administered to 16 adults with high functioning autism (HFA) and 27 adults with Asperger syndrome. Differences between Verbal Intelligence (VIQ) and Performance Intelligence (PIQ) were not found. Processing Speed problems in people with HFA appeared. At the subtest level, the Asperger syndrome group performed weak on ...

A fundamental challenge to the study of oxidative stress responses of Mycobacterium tuberculosis (Mtb) is to understand how the protective host molecules are sensed and relayed to control bacilli gene expression. The genetic response of Mtb to hypoxia and NO is controlled by the sensor kinases DosS and DosT and ...

Microbial conversion of glycerol into functional bio-based materials was investigated, aiming to facilitate the utilization of waste glycerol. A basidiomycete yeast, Pseudozyma antarctica JCM 10317, efficiently produced mannosylerythritol lipids (MELs) as glycolipid biosurfactants from glycerol. The amount of MEL yield reached 16.3 g l(-1) by intermittent feeding of glycerol.

PRIMARY OBJECTIVE: Research on the ecological validity of neuropsychological tests of executive functioning has been limited by disagreement in the number and make-up of the factors underlying the dysexecutive syndrome. The current study sought to determine whether similar components of everyday executive dysfunction are being measured by the Dysexecutive Questionnaire ...

The function of centrioles has been controversial and remains incompletely resolved. This is because centrioles, in and of themselves, do not directly perform any physiological activity. Instead, their role is only to act as a jig or breadboard onto which other functional structures can be built. Centrioles are primarily involved ...

A case of true inverse Duane′s retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report.

The exquisite sensitivity of the cochlea, which mediates the transduction of sound waves into nerve impulses, depends on the endocochlear potential and requires a highly specialized environment that enables and sustains sensory function. Disturbance of cochlear homeostasis is the cause of many forms of hearing loss including the most frequently ...

Factors influencing quality of life for persons with Asperger syndrome are not yet understood. Men, ages 18 to 21, completed the World Health Organization Quality Of Life measure, the Perceived Support Network Inventory, and a semi-structured interview. Asperger syndrome affects quality of life beyond the obvious social impact. The 12 ...

Mutations in the CSA or CSB complementation genes cause the Cockayne syndrome, a severe genetic disorder that results in patients' death in early adulthood. CSA and CSB act in a transcription-coupled repair (TCR) pathway, but their functional relationship is not understood. We have previously shown that CSA is a subunit ...

Functional neuroimaging in headache patients has revolutionised our understanding of these syndromes and provided unique insights into some of the commonest maladies in man, suggesting that at least migraine and cluster headache are primarily driven from the brain. Repeated and independent findings reinforce the crucial role for the brain stem ...

Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, has long intrigued neuroscientists with its unique combination of striking behavioural abnormalities, such as hypersociability, and characteristic neurocognitive profile. Williams syndrome, therefore, raises fundamental questions about the neural mechanisms of social behaviour, the modularity ...