Two patients had automatonlike movements of their left hands and arms (alien hand syndrome) following damage to the brain. Autopsy findings in one patient demonstrated gunshot wound damage to the medial frontal white matter bilaterally, as well as the corpus callosum, right basal ganglia, internal capsule, and thalamus. The other ...

This work wants to emphatize the role of the personality in the development of the algodystrophic syndrome. For this purpose 13 patients affected by algodystrophy of the hand and 23 with brachial plexus lesions were invited to fill in the M.M.P.I.; the patients suffering from algodystrophy reached higher scores on ...

PURPOSE: The expansion of an abnormal hemopoietic stem cell line is responsible for the myelodysplastic syndromes, which are characterized by pancytopenias, often resulting in lethal infections. Cloned granulocyte colony-stimulating factor (G-CSF) was recently shown to enhance the growth and differentiation of normal granulocyte progenitor cells in vitro. The aim of ...

Myelodysplastic syndromes are a heterogenous group of haemopoietic stem cell disorders characterized by dysplastic haematopoiesis and a defective maturation of a slowly expanding or sometimes of a stable population of haemopoietic progenitors. Defective maturation, which may involve one or more of the marrow cell lineages is regarded as the central ...

Eight male patients suffering from Menière's syndrome are presented. All patients sustained sudden or prolonged exposure to severe noise levels and suffer from acoustic trauma. The incidence of Menière's syndrome in our group of patients is significantly higher than in series reported in the normal population. Our presentation supports the ...

Slit ventricle syndrome is a poorly understood entity characterized by features of raised intracranial pressure and small ventricles in shunt-dependent hydrocephalics. Five patients with this syndrome were treated with antisiphon devices, high pressure shunts, or subtemporal decompression, but continued to be symptomatic. Third ventriculostomy, performed as a last resort in ...

Sleep physiology and symptoms of 9 patients with fibrositis syndrome secondary to a febrile illness were compared to 9 patients with fibrositis syndrome who did not attribute their symptoms to a febrile illness and to 10 healthy controls. Both patient groups showed an alpha EEG (7.5 to 11 Hz) nonrapid ...

Seven patients with Gardner's syndrome--familial polyposis, desmoid tumors, and extracolonic manifestations--underwent gallium 67 (67Ga) scintigraphy. Gallium 67 was taken up by all desmoid tumors and skull osteomas. Three patients were considered clinically disease-free and scintigraphy was normal. Gallium 67 scintigraphy may be a useful adjunct in the evaluation of patients ...

The authors studied the histopathologic, ultrastructural, and immunopathologic characteristics of conjunctiva from patients with Stevens-Johnson syndrome (SJS). A small subset of SJS patients with recurrent conjunctival inflammation unassociated with external factors such as lid margin keratinization, sicca syndrome, trichiasis, or entropion was identified. The ultrastructural and immunopathologic characteristics of the ...

A simple method for the study of the WPW syndrome, which can be performed at the patient's bedside, is presented. Using standard ECG, vagal maneouvers, ajmaline test, precordial mapping, vectorcardiography, electrode catheters positioned in the right atrium and esophageal catheters, the site of accessory pathways, and the complex arrhythmias occurring ...

Three patients with the unusual manifestation of atlantoaxial subluxation in Reiter's syndrome are studied. Each patient had mild symptoms referable to the cervical spine and radiologic evidence of erosive disease elsewhere in the skeleton. One patient had an 11-year history of Reiter's syndrome when the atlantoaxial subluxation was detected. The ...

We report two patients with Williams-Beuren syndrome. The first patient showed no evidence of coarctation of the aorta at the first examination. Seven years later, she developed coarctation of the aorta. In the second patient, we found the progression of renal artery stenosis by serial angiography. We report that vascular ...

Neurotological findings were analysed in 23 patients with Bell's palsy and in 25 patients with Hunt's syndrome. The incidence and extent of the auditory and vestibular pathology was high in Hunt's syndrome. Although patients had no subjective symptoms related to the auditory and/or vestibular pathology in the Bell's palsy cases, ...

The incidence of denervation, as determined electrodiagnostically (nerve excitability test and electroneuronography), was analysed during the course of the disease in 150 patients with Bell's palsy and 45 with Ramsay-Hunt's syndrome. Of all 150 patients, 14.2% of those with Bell's palsy and 44% of the patients with Ramsay-Hunt syndrome either ...

We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of ...

Patients with idiopathic pain syndromes were compared with healthy volunteers and with patients suffering from chronic pain syndromes of neurogenic origin, with respect to the concentrations of the metabolites 5-hydroxy-indole-acetic acid (5-HIAA) and homovanillic acid (HVA) in cerebrospinal fluid (CSF). Patients with idiopathic pain syndromes were subdivided according to the ...

An elderly diabetic patient sustained a transient hypoglycemic paraparetic episode that was attributed to inappropriate administration of glyburide. There were no other predisposing causes to account for the transient hypoglycemia. The predominant clinical signs were paraparesis of the lower extremities, with the right side more affected than the left. The ...

The complex of myxomas, spotty pigmentation, and endocrine overactivity is a recently recognized syndrome, transmitted as an autosomal dominant trait. The most serious component of the disorder is cardiac myxoma, which has caused the death of one fourth of the affected patients and serious disability in an equal number. It ...

Patients with idiopathic pain syndromes have been compared to healthy volunteers and patients with neurogenic pain syndromes as concerns the activity of the enzyme monoamine oxidase (MAO) in thrombocytes. In both patients with idiopathic pain syndromes and in patients with neurogenic pain syndromes an increased frequency of patients with low ...

Seventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively. Two of ...

Six patients with upper cervical spine ossicles and Down syndrome from a study population of 184 are described. The average age was 20.6 years at the time of diagnosis. Three of the patients were involved in tumbling. Radiographic anatomy of the ossicles and the dens, as well as serial radiographs ...

Kasabach-Merritt syndrome presents various problems for anesthetic management, which include thrombocytopenia, bleeding tendency, and problems arising from the hemangioma mass itself. A 20-month-old female was scheduled for cryosurgery of a hemangioma on the face. Massive bleeding from the tumor was easily induced even by slight contact. The hematologic examination revealed ...

The present study examines the hypothesis that alterations in the activity of alpha 2-adrenergic receptors (A2R) may underlie the clinical vasospasm seen in patients with Raynaud's syndrome. Platelets were isolated from 13 normal subjects, from 50 patients with vasospastic Raynaud's syndrome, and from 20 patients with obstructive Raynaud's syndrome and ...

Histologic sections from eleven patients with Sézary syndrome were reviewed and compared with those of four patients with erythrodermic mycosis fungoides and twenty-four patients with a benign form of erythroderma, including fifteen patients with chronic dermatitis, four with a generalized drug eruption, and five with an erythrodermic psoriasis. The most ...

Fractional distal chloride reabsorption was measured in 8 patients with Bartter's syndrome, 8 patients with comparable degrees of hypokalemia of different etiologies and 7 normal subjects during maximal diuresis induced by an intravenous infusion of 5% dextrose in water. A low fractional distal chloride reabsorption (0.55 +/- 0.01) was found ...

In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11q24.1. A very distal 11q24.2 deletion ...

We report a patient with the Killian/Teschler-Nicola/Pallister mosaic syndrome in association with a cytogenetic abnormality. This patient is the first reported to have lymphocyte mosaicism for an isochromosome of 12p. All other patients with the Killian syndrome have had normal lymphocyte karyotypes, although mosaicism for a similar isochromosome of 12p ...

Nine patients with the Shy-Drager syndrome underwent complete urological and neurological investigation of bladder symptoms. Urodynamic studies revealed detrusor areflexia in 6 patients (67 per cent), detrusor hyperreflexia in 3 (33 per cent), a lower motor neuron lesion involving the periurethral striated muscle in 9 (100 per cent) and an ...

Two years after a microbiological study of the urethral syndrome 25 of 31 women had had further symptoms, but only two had sought medical help for their symptoms in the year after the study. Analysis of patients' records showed that women with the urethral syndrome had higher consultation and sterilisation ...

Nine patients with Maffucci's syndrome were seen at our institution; chondrosarcoma developed in five. On the basis of the cases of these patients and those reported in the English literature since 1973, we determined that the incidence of chondrosarcoma in patients with Maffucci's syndrome is 17.8 per cent.

Four patients with Jadassohn nevus phakomatosis (linear nevus sebaceus syndrome, Schimmelpenning-Feuerstein syndrome) are described. Neuroradiological findings consisted of skull asymmetry shown by X-rays and hemimegalencephaly with ventricular system asymmetry on CT. Three of the patients showed, in addition, a widened insula. In two patients areas of increased density suggesting calcium ...

In patients with multifocal choroiditis, presumed ocular histoplasmosis syndrome (POHS) is often diagnosed. However, POHS typically is not associated with inflammatory activity in the ocular media. A group of patients had a pattern of multifocal choroidal spots reminiscent of POHS with active signs of inflammation in the anterior and vitreous ...

Patients with Wiskott-Aldrich Syndrome have an increased incidence of serious infections, often with microorganisms that usually produce mild disease in immunologically normal subjects. Three patients with Wiskott-Aldrich syndrome complicated by progressive varicella are reported. There have been no previous reports of similar cases. Two of the patients were treated with ...

Plasma fibronectin was assayed in 179 hospitalized patients referred for workup of possible acquired coagulopathy. Based on laboratory results and chart review, these patients were classified as having no coagulopathy (N = 36), defibrination syndrome (N = 31), compensated defibrination syndrome (N = 100), microangiopathic thrombocytopenia (N = 7), and ...

A symptomatic patient with Adie's syndrome is described as successfully managed with pilocarpine 0.125% applied topically to the involved eye three times daily. This is the first report of such a patient responding to direct parasympathomimetic therapy. Alternate approaches to the therapy of Adie's syndrome are mentioned. An approach to ...

In a prospective study 40 of 236 individuals with Down syndrome were found to have atlantoaxial instability. Whereas most of the 40 affected children were asymptomatic, seven patients exhibited various neuropathology. Historical data, neurologic findings, radiologic interpretations, and surgical management of these seven patients are described in detail. In addition, ...

beta 2-Microglobulin (beta 2-M) levels in sera and urines, and lysozyme levels in sera, were quantitated in healthy heterosexual men and several groups of homosexual males. The mean beta 2-M levels in sera and urines and lysozyme levels in sera of healthy heterosexual and homosexual men were not significantly different. ...

To elucidate the possible sodium transport alterations across the cell membranes in Bartter's syndrome and their influencing by spironolactone treatment Na+-K+-ATPase activity was studied by means of radioactive 86Rubidium influx into red blood cells (RBC) of patients with Bartter's syndrome prior to and after a long-term spironolactone administration. As compared ...

In a study of 40 women with the urethral syndrome and 46 women with conventional urinary tract infection, none of whom was pregnant, general practitioners predicted the diagnosis correctly before the report on the midstream urine specimen was received, as evidenced by their management. They seemed to do this by ...

Five patients with radial aplasia studied during a period of ten years at the University College Hospital, Ibadan, Nigeria, had the amegakaryocytic thrombocytopenia syndrome. Together, they are termed the TAR syndrome. Two of the five patients were siblings from a polygamous family; three patients had relative hypogammaglobulinemia, and one of ...

A single patient with basal cell nevus syndrome is presented. Prolonged application of 5% 5-fluorouracil and dinitrochlorobenzene was unsuccessful in inducing regression or clearing of his cutaneous lesions. Our results suggest that these therapies, at least for the nevoid-appearing lesions, may not be effective in the management of some patients ...

This study confirms the existence of accelerated conduction via a fast atrio-His pathway in patients with the so-called Lown-Ganong-Levine (LGL) syndrome. Additional slow AH pathway conduction was detected in about 50% of patients. Comparison of slow pathway conduction characteristics in the LGL syndrome with AH conduction in age-matched normals and ...

A patient with Lown-Ganong-Levine syndrome, in whom electrophysiologic evaluation revealed nodoventricular accessory connections, is described. The resting electrocardiographic pattern, which is unusual in patients with Mahaim type of preexcitation, was due to relatively short A-H and H-V intervals. Electrophysiologic study is indispensable for exact diagnosis in patients with preexcitation syndromes.

Sjogren's syndrome presents a wide spectrum of disease manifestations ranging from benign to malignant lymphoproliferation. Sera from 21 patients with primary Sjogren's syndrome, 63 patients with other autoimmune rheumatic diseases, and 140 normal controls were studied by using high-resolution gel electrophoresis combined with immunofixation and specific absorption studies. Two-thirds of ...

Anterior ischemic optic neuropathy is a well-recognized syndrome usually occurring in an older adult population. It is unusual for these patients to experience a second attack in an eye already affected. We describe three young patients with anterior ischemic optic neuropathy who have experienced repeat attacks in one or both ...

A 1-year survey of patients in three hospitals identified 936 patients who had one predisposition and 57 who had several predispositions to the adult respiratory distress syndrome. From the total predisposed population of 993 patients, 68 subsequently developed the syndrome. An additional 20 patients developed the syndrome from causes other ...

The presence of Eisenmenger's syndrome places the pregnant patient at high risk for maternal and neonatal mortality. Since patients with Eisenmenger's syndrome generally survive until the fourth decade, some patients with this disease process will become pregnant. A discussion of cardiovascular changes that occur during pregnancy is presented with a ...

The basal serum levels of FSH, LH, prolactin and testosterone were determined in 45 patients with Sertoli cell only syndrome and were compared with the same in patients with Klinefelter's syndrome, oligozoospermic men and normal, fertile men. The serum FSH and LH levels in patients with Sertoli cell only syndrome ...

The patient is a classical case of Klinefelter's syndrome and has, in addition, pulseless disease. In angiography, the involvement of the subclavian arteries and its main branches, consistent with Takayasu's arteritis type 1, was demonstrated. It is a pure coincidence that the patient with a 47 XXY karyotype also has ...

Computed tomography (CT) can demonstrate disorders of the chest wall muscles clearly. CT scans of the thorax were carried out in seven patients with Poland's Syndrome. All patients with Poland's Syndrome had the clavicular portion of the pectoralis major, but were lacking the sternocostal portion of the pectoralis major. The ...