Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the ...

Three cases of a misidentification syndrome are presented. In this syndrome, which may be Capgras' or a new syndrome that we refer to as delusional gross replacement of inanimate objects, patients believe that their new possessions are replaced by inferior copies of the original objects by identified individuals. The patients ...

We identified 10 patients with contralateral ataxia and hemisensory loss following unilateral thalamic lesions. Seven patients had ischemic infarcts, and three had hemorrhages. Hemiparesis, when present, was only a transient finding, whereas ataxia, dysmetria, dysdiadochokinesia, rebound, and hemisensory loss persisted. Two patients had cerebellar outflow tremor. Another developed a severe ...

The clinical features of 20 patients of Martin Bell syndrome were analyzed in order to derive diagnostic features in younger patients. The characteristic clinical features comprising long face, large ears and macro-orchidism were commoner in children more than 10 years old than in prepubertal children. This study shows that younger ...

Sneddon syndrome is defined as a clinical entity consisting of livedo racemosa generalisata (LRG) and cerebrovascular lesions, which often lead to physical and mental handicaps. Four patients with LRG and the suspected diagnosis of Sneddon syndrome had HMPAO-SPECT studies. The patients underwent CT and/or MR brain imaging and three patients ...

OBJECTIVE: A retrospective study of abdominal CT scans of patients with proved intraabdominal desmoid tumors was done to determine if any objective characteristics exist to differentiate desmoids related to Gardner's syndrome from isolated desmoids. Because the desmoid tumors of Gardner's syndrome can predate the diagnosis of Gardner's syndrome, it would ...

A patient with myelodysplastic syndrome (refractory anemia) with marked and persistent reticulocytosis is presented. A referring diagnosis of hemolytic disease had been made. However, the 51Cr red cell survival was normal (T1/2 24 days). Reticulocyte morphology, red cell creatine content, and in vitro reticulocyte survival studies have suggested that the ...

The incidence of the post-myocardial infarction syndrome (Dressler's syndrome) among thrombolized patients has not been established yet. To clarify this issue we prospectively studied 201 consecutive patients with acute myocardial infarction who had undergone recombinant tissue-type plasminogen activator therapy followed by 5 days of heparin administration. All patients were followed ...

The site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweating (2 patients) and ...

A 64-year-old male patient with Felty's syndrome was treated with antibiotics, Plaquenil (hydroxychloroquine sulfate), and gold salts. In the fourth week of hospitalization, the patient died. Autopsy showed extensive bronchopneumonia, fibrous pleuritis, congestive splenomegaly, mild atherosclerosis, reactive lymphoid hyperplasia, congested passive liver, severe rheumatoid arthritis, and hypercellular bone marrow.

We describe a female patient who presented at pregnancy with leucopenia and was found to suffer from both fragile X syndrome [Fra(X)] and myelodysplastic syndrome with cytogenetic abnormalities in bone marrow cells including 4q+ and deletion D13. To date only four cases of Fra(X) syndrome with malignant tumours (one haematological), ...

Frey's syndrome after parotidectomy has an incidence generally reported to be 50% to 60% and is thought to be due to aberrant reinnervation of sweat glands by postganglionic parasympathetic fibers normally supplying the parotid gland. One hundred twelve patients had interposition of a flap of the superficial musculoaponeurotic system between ...

Four patients are described who presented with a paroxysmal form of the alien hand syndrome. Two patients with damage to one frontomedial cortex had brief episodes of abnormal motor behaviour of the contralateral arm that featured groping, grasping, and apparently purposeful but perseverative movements, which both patients interpreted as alien ...

Visual and somatosensory evoked potentials (VEPs and SEPs) were studied in 9 patients with Rett syndrome and compared with those in 6 patients with photosensitive progressive myoclonus epilepsy (PPME). In Rett syndrome, a giant III-IV amplitude of VEPs was present in 8 patients, although none exhibited giant II-III amplitudes. Four ...

Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly ...

Gilbert's Syndrome is a benign familial condition in which unconjugated hyperbilirubinemia occurs in the absence of structural liver disease or hemolysis. Phenothiazines and tricyclic medications are often withheld in patients with preexisting liver disease. The authors present four patients with Gilbert's Syndrome and concurrent psychiatric illness. Administration of phenothiazine antipsychotics ...

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by ...

We report herein a patient with Klinefelter's syndrome associated with refractory anemia with excess of blasts in transformation, a subtype of myelodysplastic syndrome (MDS). The MDS developed with karyotypic abnormality involving t(4;7)(q21;q11), and was characteristic of marked thrombocytosis and marrow infiltration by many atypical megakaryocytes. The patient also had diabetes ...

The detection of elevated fibrinopeptide A (FPA) level in a patient with the Lesch-Nyhan syndrome complicated with cerebral infarction prompted us to examine FPA level in 3 other patients with the syndrome. FPA level significantly increased in all patients. Fibrinopeptide B beta 15-42 (FPB beta 15-42) level was increased in ...

In order to support the concept that a lesion of the thalamus is sufficient to cause a Korsakoff syndrome, we are presenting 5 patients, all of whom developed the syndrome after sustaining a left (dominant) thalamic infarction. Two patients had pure thalamic strokes followed by a permanent Korsakoff syndrome. One ...

Werner's syndrome (WS) is often mistaken for scleroderma. We describe a patient with WS who presented with an enlarging, painful mass of the right knee that proved to be a juxtaarticular osteosarcoma of the distal femur. Recognition of WS and prompt investigation of any painful, enlarging masses to exclude sarcomatous ...

Clinical and roentgenographic examination of the hip was performed in 114 patients with Down's syndrome to study range of motion, roentgenographic anatomy, and incidence of hip pathology. The study found increased external rotation of the hip. Roentgenographic studies demonstrate that, in comparison with a normal acetabulum, the acetabulum of a ...

There is a relative lack of information in the literature regarding the epidemiology, functional significance, and clinical resolution of the consequences of minor traumatic brain injury (MTBI). Most retrospective studies to date have been elicited by direct patient interview. Because it was supposed that a minor, but significant, traumatic brain ...

Five patients with pseudo-Bartter's syndrome from surreptitious diuretic abuse were compared with six patients with true Bartter's syndrome, diagnosed as a normotensive, hyperreninaemic, hypokalaemic metabolic alkalosis with normal urine chloride excretion, low CH2O/(CH2O+CCl) ratio during maximal water diuresis and negative urine screen for diuretics. The latter was positive for frusemide ...

Acute retinal necrosis (ARN) syndrome usually occurs as the result of secondary reactivation of latent, previously acquired, varicella-zoster or herpes simplex virus. The authors report four patients who developed a mild form of ARN within 1 month (5 to 28 days) after the onset of chickenpox. In contrast to typical ...

To investigate whether B cells from patients with the hyper-IgE syndrome are more sensitive to the effects of interleukin-4 in vitro than B cells of normal or atopic individuals, we stimulated blood mononuclear cells (MNC) with varying doses of recombinant human interleukin 4 (rhIL-4) and measured supernatant IgE concentrations after ...

One hundred and fifty patients presenting with small cell lung cancer (SCLC) to chest physicians, were assessed neurologically. Neuromuscular or autonomic deficits were common and occurred in up to 44% of cases. Weakness, dry mouth, and weight loss were not mutually independent and may represent the syndrome formerly described as ...

The authors present the subjective responses of 40 patients with heel spur syndrome or plantar fascitis to orthotic treatment. Twenty patients had Rohadur orthoses and 20 patients had TL-61 orthoses. These data show no difference in the response to or problems created by either TL-61 or Rohadur orthoses. The authors ...

A series of twelve patients is presented in which each patient suffered from one or more misidentification syndromes and also misidentified one or more political figures. The fact that misidentification syndromes have been associated with physical violence and that the majority of the patients studied had a history of physical ...

Blepharoplasty and inferior punctal occlusion were performed on 24 consecutive patients with dry eye syndrome. Fifteen patients (62.5%) had symptomatic dry eye syndrome preoperatively and nine patients (37.5%) had asymptomatic dry eye syndrome diagnosed during the preoperative workup (subclinical dry eye syndrome). After surgery, nine patients (37.5%) had improvement of ...

Nine patients with pure dysarthria underwent computed tomography or magnetic resonance imaging. Eight patients had infarcts of lacunar or larger size in the internal capsule: four in the superior portion of the anterior limb or adjacent corona radiata and four in the superior portion of the genu or the adjacent ...

We studied 117 patients with nonfamilial melanoma to determine whether melanoma patients with dysplastic nevus syndrome might be distinguished, on the basis of solar exposure, from melanoma patients without dysplastic nevus syndrome. Study participants were interviewed and received a skin examination, which included a total count of nevi, a standardized ...

The myelodysplastic syndromes are characterized by ineffective hematopoiesis with possible transformation to acute nonlymphocytic leukemia. We describe a patient with refractory anemia with excess blasts with unusual rheumatic manifestations of vasculitis, migratory synovitis, arthralgias, and myalgias. A retrospective review over a 6-month period of 162 patients with myelodysplastic syndromes found ...

A retrospective review of 2,320 neonatal cranial sonograms obtained in 1,324 patients identified 25 patients with areas of echogenicity in their thalami and basal ganglia that were of a linear or branching linear distribution. Four of these patients had cytomegalovirus infection. Other major diagnoses encountered included Down syndrome, trisomy 13 ...

Gonadal histology was investigated by means of conventional microscopy in 6 patients with complete androgen insensitivity syndrome, in 11 with incomplete androgen insensitivity syndrome, and in 3 with 5 alpha-reductase syndrome. Twelve subjects were prepubertal and 8 pubertal. In all patients gonadal tissue was removed as a prophylactic measure and ...

A subgroup of patients with Alzheimer's disease (AD) developed Balint's syndrome, an uncommon and incompletely understood disorder of visuospatial processing. We characterized the visuospatial features of three AD patients with Balint's syndrome and compared them to three comparably demented AD patients without this syndrome. On visuospatial tasks, the Balint patients ...

The computed tomographic scans of 12 patients with Capgras syndrome and 12 matched controls were blindly assessed. A variety of statistical comparisons between the two groups consistently showed that patients with Capgras syndrome had significantly more bilateral frontal and temporal lobe atrophy. Capgras syndrome may be associated with dysfunction of ...

Three patients with Down syndrome and celiac disease were described. The incidence of celiac disease among patients with Down syndrome was calculated to be 8 per 1,000 live-born cases, a figure 20 times greater than in children without Down syndrome, indicating that it should be kept in mind when examining ...

In order to investigate the imbalance of IgG subclasses and its relationship to IgE level, 14 patients with hyper IgE syndrome (HIE syndrome) were examined for serum IgG subclasses and IgE levels and five of these patients were studied for in vitro IgE and IgG subclass production by peripheral blood ...

A patient with the Cohen syndrome is described and the literature is reviewed. Electroretinography (ERG) showed that the patient had a tapeto-retinal degeneration. The authors believe that a retinitis pigmentosa-like phenotype is an obligatory sign in patients with the Cohen syndrome. Assessment of a tapeto-retinal dystrophy by electroretinography, however, is ...

A patient with Down syndrome and severe retardation and Eisenmenger syndrome sought dental treatment at the Oregon Health Sciences University Hospital Dental Service. Eisenmenger syndrome is a form of cyanotic congenital cardiovascular pulmonary disease. The cardiac structural abnormalities associated with Eisenmenger syndrome preclude the use of conscious sedation and predispose ...

A 31-year-old male psychiatric patient presented with an unusual multifaceted delusion of misidentification including Capgras syndrome, in which people in the immediate environment, the other patients and hospital staff, were seen as hired actors in a stage production. The genesis and reinforcement of his delusional thinking appears to be the ...

The bradycardia-tachycardia syndrome is a subgroup within the larger category of sinus node dysfunction. Pacing is often required to treat either the protracted asystolic spells following the spontaneous termination of a paroxysmal supraventricular tachyarrhythmia or to protect the patient from pharmacologically exacerbated bradycardias. While the optimal pacing mode for this ...

An exceptional case of nevoid basal cell carcinoma (NBCC) syndrome occurring with acrokeratosis verruciformis (AKV) in the same patient is presented. The occurrence of two rare autosomal dominant diseases in a patient suggests that AKV might be one of the different dyskeratoses of the NBCC syndrome. The clinical aspect of ...

In a series of 48 patients with Williams syndrome examined from 1984 to 1988, 3 physical manifestations were noted which have not been emphasized in previous reports of this condition. Unusual sacral creases were found in 25/48 patients, a linear array of hemangiomas (nevus flammeus) on the back in 3/48, ...

Twenty patients with fibromyalgia syndrome and 20 patients with rheumatoid arthritis (RA) were assessed as outpatients over a 3 day period with respect to peak and trough levels of plasma cortisol, growth hormone, prolactin, ACTH and thyroid stimulating hormone. Patients with fibromyalgia syndrome had loss of diurnal variation in plasma ...

The Schedule for the Deficit Syndrome (SDS) is an instrument for categorizing schizophrenic patients into those with and those without the deficit syndrome. In a study of 40 schizophrenic patients diagnosed by DSM-III criteria, raters using the SDS demonstrated good interrater reliability for this categorization, as well as for individual ...

At a university based referral clinic, 236 consecutive patients with uveitis were evaluated by a rheumatologist; 13% of these patients had spondyloarthritis including 17 patients with Reiter's syndrome and 13 patients with ankylosing spondylitis (AS). The uveitis associated with AS or Reiter's syndrome had distinctive characteristics; it was acute in ...

Whether frontal lobe pathology can account for some of the cognitive impairment observed in amnesic patients with Korsakoff's syndrome was investigated. Various cognitive and memory tests were given to patients with circumscribed frontal lobe lesions, patients with Korsakoff's syndrome, non-Korsakoff amnesic patients, and control Ss. Patients with frontal lobe lesions ...

Eight patients with Williams syndrome and 6 with Down syndrome, matched for age and full-scale IQ, underwent detailed neurologic testing as part of a large multidisciplinary research center study. Williams syndrome patients were small for gestational age and often had histories of failure-to-thrive and feeding problems as infants. Half of ...