Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most ...

In a population of 340,000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. ...

Spontaneous dissection of the internal carotid arteries usually presents with unilateral headache, neck pain, focal ipsilateral cerebral ischaemic symptoms and a Horner's syndrome. Lower cranial nerve palsies are only rarely observed. We report a case of carotid and vertebral dissections presenting as a unilateral palsy of the ninth to twelfth ...

When trying to establish the likely anatomical site (preganglionic or postganglionic) of a lesion causing congenital Horner's syndrome, the distribution of facial flushing (the "harlequin" sign), may be seen. In babies and young children, facial flushing is a relatively simple clinical sign to demonstrate, compared with facial sweating. In unilateral ...

An analysis of all aphidicolin-inducible breakpoints has been carried out in PHA stimulated T-lymphocytes of five patients with classical Rett syndrome, their mothers and a group of age matched controls. Observed breakpoints were divided into two groups: common, rare, and those recorded by others but not assigned as fragile sites ...

Pacemaker syndrome is an iatrogenic disease that is often underdiagnosed. We propose that pacemaker syndrome represents the clinical consequences of suboptimal atrioventricular (AV) synchrony or AV dyssynchrony, regardless of the pacing mode. Clinicians implanting and programming pacemakers should attempt to optimize AV synchrony to prevent the occurrence of pacemaker syndrome.

Insufficiently appreciated as a cause of learning disability and other behavioral problems, fragile X syndrome accounts for almost 10% of inherited mental retardation. Identification of the specific mutation as a dramatic trinucleotide expansion inaugurates an era of accurate diagnosis, and goes far toward explaining the syndrome's inheritance patterns, in which ...

PURPOSE: To document a case of Candida tropicalis endophthalmitis as the only manifestation of pacemaker endocarditis. METHODS: We examined a 75-year-old man with diabetes mellitus who was initially examined for bilateral multifocal endophthalmitis complicating endocarditis 2 years after a permanent pacemaker for sick sinus syndrome was implanted. RESULTS: Transesophageal echocardiography ...

Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in ...

The fragile X syndrome is the most common inherited cause of mental retardation that is known. The prevalence of mental retardation from this syndrome ranges from 1 in 1,250 to 1 in 4,000 in the general population, although the prevalence of female carriers has been reported to be as high ...

This study surveyed obligate carriers of the fragile X syndrome fra(X) to ascertain opinions and attitudes regarding carrier testing. Female carriers of fra(X) syndrome were recruited during their visits to the Fragile X Clinic at Duke University Medical Center. Twenty-eight obligate carriers completed a 48 question structured interview and a ...

The prevalence of Fragile-X syndrome in those with learning disability has been reported. There is little agreement regarding the prevalence rate which varies between 0% and 16%. We report a study investigating the prevalence of Fragile-X syndrome in two institutions for those with learning disability, using DNA testing. We found ...

In this study, we evaluated the prevalence of the fragile X syndrome in a cohort of 574 mentally retarded children. The only inclusion criterion was the diagnosis of mental retardation according to the DSM-IIIR classification. We used a PCR-based strategy for the diagnosis of fragile X syndrome to facilitate systematic ...

In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original ...

PURPOSE: To describe a false-negative hydroxyamphetamine test. METHOD: Two patients with acute unilateral Horner's syndrome whose pupils initially dilated equally to hydroxyamphetamine had pharmacologic localization to the postganglionic nerve in the second week following the onset of symptoms. RESULTS: Neuroimaging confirmed the postganglionic location in both cases. CONCLUSION: Falsely negative ...

The ciliospinal reflex response is mainly mediated by second- and third-order sympathetic nerves to the dilatator muscle of the iris. As the pupillary response to various pharmacological agents indicates a sympathetic dysfunction in patients with cluster headache, the ciliospinal reflex was studied in 25 patients. Five of these patients with ...

Horner's syndrome is described in three cats associated with wounds to the ventrolateral neck. In each case, ipsilateral laryngeal hemiplegia was observed on laryngoscopy. This finding provided strong evidence to support a diagnosis of second order Horner's syndrome due to disruption of the cervical sympathetic trunk, as motor fibres innervating ...

BACKGROUND: Thoracoscopic resection of the first through the fourth thoracic sympathetic ganglion for palmary and axillary hyperhidrosis and Raynaud's syndrome is associated with a high initial success rate. However, the reported incidence of compensatory hyperhidrosis of the trunk and legs and Horner's syndrome are high. This study assesses the results ...

The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. The cytogenetic expression of FRAXE is thought to be associated with mental handicap, but this is usually mild compared ...

It is important to distinguish clinically neurocardiogenic syncope from pacemaker syndrome in patients after pacemaker implantation. We report two syncopal patients with AV sequential physiological pacemakers who displayed neurocardiogenic vasodepressor syncope (VDS) during head-up tilt (HUT) testing. Neurocardiogenic VDS, as a cause of syncope in patients following pacemaker implantation, might ...

Following His-bundle ablation and VVIR pacemaker implantation, severe pacemaker syndrome developed and was treated with DDDR pacing, in a 70-year-old woman. Due to bilateral subclavian vein stenoses, DDDR pacing could not be maintained and an unusual method of restoring atrioventricular synchrony is described using the contralateral redundant atrial electrode connected ...

An unusual case of Horner's syndrome secondary to a sympathetic block in a patient with chronic adhesive arachnoiditis (CAA) is described. The patient, a 40-year-old white woman, presented with spastic paraplegia, hyperreflexia, bilateral Babinski sign, superficial and deep sensitive hypoaesthesia at the T4 level, in addition to bladder and rectal ...

Ross' syndrome is a rare peripheral nervous system disorder defined by Adie's tonic pupil, hyporeflexia, and segmental anhidrosis. Injury to postganglionic cholinergic fibers is believed to account for the tonic pupil and sweating disturbance. We report a 47-year-old man found to have Ross' syndrome in combination with a complete postganglionic ...

We report the first case of engraftment of bone marrow collected from a donor with Fragile X syndrome with subsequent cytogenetic and molecular evaluation. Engraftment was prompt and stable. Whilst the Fragile X abnormality could be detected initially by molecular techniques in the peripheral blood, it could not be detected ...

A patient with symptomatic atrioventricular blockage who had been treated by permanent pacemaker implantation, developed twiddler's syndrome 16 days after implantation. The electrode lead to the pacemaker pocket had been completely displaced, with the electrode tip having moved to the outside of the subclavian vein. Complete atrioventricular block was demonstrated ...

A 17-year-old female with Kearns Sayre syndrome, complete heart block, and an implanted single chamber (VVIR) pacemaker, underwent testing with a GSM cellular phone that was placed directly over the pacemaker site. The pacemaker was immediately inhibited when the phone began to operate. A 6.5-second period of complete heart block ...

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5' upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of ...

Horner's syndrome may be caused by a lesion anywhere along the three-neuron pathway from the hypothalamus to the eye. This syndrome has been reported secondary to numerous causes to date. In this paper, we describe an extremely rare case of Horner's syndrome due to jugular venous extasia demonstrated by computed ...

Individuals with either fragile-X syndrome or Down's syndrome with IQ scores less than 40 were assessed on the Down Syndrome Mental Status Exam. The results of the testing were examined for syndrome-specific cognitive profiles. No evidence for syndrome-specific cognitive profiles were found. These same individuals were then classified as high ...

Fragile X syndrome is the most common known cause of inherited mental retardation. Identification of patients and carriers of fragile X syndrome is usually done with a DNA test system but we have developed a rapid antibody to identify fragile X patients. This non-invasive test requires only 1 or 2 ...

BACKGROUND: Posterior cerebral artery (PCA) occlusive disease usually produces homonymous visual field defects, hemisensory loss, and neuropsychological deficits. Conversely, the combination of hemiparesis, Horner's syndrome, and contralateral hemihyperhidrosis has never been reported before. CASE DESCRIPTION: A patient with infarction in the superficial and deep territories of the right PCA presented ...

There are two major vascular syndromes of the medulla oblongata: the medial and the lateral. The medial medullary syndrome is characterized by the triad of ipsilateral hypoglossal nerve palsy with contralateral hemiparesis and loss of deep sensation. Lateral medullary infarction commonly presents with Horner's syndrome, ataxia, alternating thermoanalgesia, nystagmus, vertigo ...

Cytogenetic records were examined from consecutive nononcology blood specimens from 2,821 patients referred for cytogenetic services to Vanderbilt University Medical Center, Nashville, Tenn, from January 1985 to December 1992. We grouped the records according to reasons for referral and diagnoses. The most common reasons for referral were history of multiple ...

Mydriatic responses to eyedrops containing the indirect acting sympathomimetic amines tyramine, hydroxyamphetamine, and pholedrine have been compared in 10 healthy subjects. Pholedrine, the n-methyl derivative of hydroxyamphetamine, at a concentration of 1% had effects similar to those produced by 0.5% hydroxyamphetamine itself. Pretreatment with topical guanethidine attenuated its responses and ...

STUDY DESIGN: This report analyzed the likely locations of lesions that cause a combination of Horner's and Brown-S?quard syndromes. One must know the anatomic structure of spinal cord and the sympathetic nerve chain. OBJECTIVES: A hypertensive patient had Brown-S?quard and Horner's syndromes after neck trauma. The magnetic resonance imaging and ...

A case of Raynaud's phenomenon, was complicated with autoimmune hepatitis (AIH) during the clinical course, and subsequently with gangrene of the fingertips caused by CRST syndrome (calcinosis cutis, Raynaud's phenomenon, sclerodactyly and telangiectasia). The presence of anticentromere antibodies is rare in AIH; to date, there has been only one report ...

A patient is reported with spontaneous pneumothorax in whom a Horner's syndrome occurred as a complication of drainage tube thoracostomy. Ascending sympathetic fibres lie in close contact with the parietal pleura at the apex of the hemithorax and may be damaged by an inappropriately positioned thoracostomy tube. It is suggested ...

Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site ...

Gustatory facial sweating has been described as a consequence of upper thoracic sympathectomy. Patients may also develop compensatory hyperhidrosis, sensory deficits, nipple hypersensitivity, and Horner's syndrome. In this article, we have reviewed three patients with reflex sympathetic dystrophy who developed gustatory facial sweating subsequent to endoscopic T2 and T3 ganglionectomy. ...

The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been diagnosed with a schizotypal personality disorder. He ...

Many disorders produce anhidrosis, including abnormalities of the central or peripheral nervous system. Tumors, infarcts, injuries, or hemorrhages of the brain can be the cause. We describe two patients with anhidrosis due to neurologic causes. One patient had an acquired complete left unilateral anhidrosis without an ipsilateral Horner's syndrome. The ...

Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region. The absence of FMR1 protein leads to mental retardation, aberrant behavior, and macroorchidism. Hardly anything is known about the physiological function ...

Fragile X is the most common inherited form of mental retardation, having an incidence of one in 1,250 males. The fragile X syndrome results from amplification of the CGG repeat found in the fragile X mental retardation-1-gene (FMR-1). This CGG repeat shows length variation in normal individuals and is increased ...

We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having ...

We describe a case of postcardiotomy syndrome following permanent pacemaker insertion. A 79-year-old woman presented with complete heart block. Following temporary pacing, a dual chamber permanent pacemaker was inserted. Two weeks later she developed fevers and malaise with an acute rise in inflammatory markers. After systemic infection had been carefully ...

A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical-cytogenetic-molecular grounds, Prader-Willi syndrome was excluded. Fragile X syndrome was ...

To determine whether aberrant behaviors described in boys with fragile X syndrome distinguish them from other boys with developmental disabilities, we asked the primary caregivers of 55 boys with fragile X and 57 matched controls to complete five behavioral questionnaires. Twenty-one items distinguished the groups. Principal components analysis (PCA) yielded ...

The fragile-X syndrome is the most common cause of familial intellectual disability. Recently, the gene related to the fragile-X syndrome [the 'fragile-X mental retardation'-1 (FMR-1) gene] has been isolated. In this review, clinical and molecular aspects of the fragile-X syndrome, current benefits and future prospects are discussed.

Pacemaker-twiddler's syndrome is characterized by spontaneous, subconscious, inadvertent, or deliberate rotation of the pulse generator by the patient resulting in lead dislodgement and pacemaker malfunction. We present a case of pacemaker-twiddler's syndrome that involved an atrioventricular sequential pacemaker. It resulted in failure of atrial lead capture and phrenic nerve stimulation ...

A 21-year-old woman with neurofibromatosis type 1 (NF-1) had a unilateral congenital Horner's syndrome with resultant hypopigmentation of the affected iris. Lisch nodules, which are melanocytic hamartomas, were similar in number, size, and pigmentation in both eyes. The present findings suggest that the formation of Lisch nodules is not influenced ...