Anaesthesia for nine patients with the carcinoid syndrome is described. With the exception of one case in which severe bronchospasm and hypertension occurred, complications were minor. Steroids, aprotonin and methotrimeprazine appear to be useful agents in the management of such patients. An anaesthetic technique employing thiopentone, pancuronium and nitrous oxide ...

In 18 patients with the Lown-Ganong-Levine syndrome and in 11 control subjects the response of the atrioventricular conduction system to heart rate acceleration by right atrial pacing, and, with the aid of His bundle electrogram, the behaviour of individual levels of the atrioventricular conduction system were studied. At spontaneous sinus ...

We studied a thiamine-requiring enzyme in cultured cells from four patients with the Wernicke-Korsakoff syndrome to determine whether these patients have a genetic predilection to thiamine deficiency. Transketolase in fibroblasts from the patients with the syndrome bound thiamine pyrophosphate less avidly than control lines. The apparent Km for thiamine pyrophosphate ...

Electron microscopy study of a liver biopsy from a patient with the Dubin-Johnson syndrome revealed evidence of severe mitochondrial damage. The changes included membranous whorls, isolated intramitochondrial membranes, myelin figures and large cytoplasmic vacuoles, presumably representing degenerated micochondria. Mitochondrial damage should be looked for in future electron microscopy studies in ...

One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients ...

The clinical features of Sjogren's syndrome were found in 24 percent of Glasgow patients with SLE without other atypical features. Sjogren's syndrome was found in one (13 percent) of a group of eight patients with features of both SLE and scleroderma, one of three patients with features of both polymyositis ...

The mechanism of the abbreviated atrioventricular (A-V) nodal conduction time and paroxysmal supraventricular tachycardia in the Lown-Ganong-Levine syndrome was evaluated in six patients. In each the A-H interval increased in response to rapid atrial pacing and atrial extrastimuli; typical dual A-V nodal pathways were demonstrated. In five patients studied at ...

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears ...

The dominant hereditary form of deafness as part of Waardenburg's syndrome was found in 12 (35%) of 34 patients never previously described with Waardenburg's syndrome among 5 families in the Netherlands. Extensive audiometric examination could be performed in 11 patients, 5 patients with deafness on both sides and 6 patients ...

Conventional thyroid function indices (serum T4, T3, TSH and thyroidal RAIU before and after TSH) appeared to be normal in most of 25 clinically euthyroid patients with chromatine positive Klinefelter's syndrome. Administration of TRH, however, revealed a decreased TSH reserve in the Klinefelter patients, both off or on testosterone treatment, ...

Sacroiliitis can be demonstrated radiologically in over one-third of patients with chronic Reiter's syndrome. We have used a bone scan technique with digital analysis which will quantitatively assess the sacroiliac joints, and have found abnormalities in 24 of 33 patients with active Reiter's syndrome. It seems likely therefore that sacroiliitis ...

After the transition state of decerebrate coma, at least four different kinds of the so-called apallic status can be identified: 1. Complete apallic syndrome: coma vigil, alertness without any awareness, mass movements only, impairment of sleep rhythm, absence of any emotional responses, postural abnormalities, some primitive motor responses, tetraplegia, and ...

Macrophage migration inhibitor factor (MIF) activity in the sera of patients with mycosis fungoides, Sézary syndrome, and cutaneous lymphoma was observed in the sera of eight of the ten patients with stage II (infiltrative) mycosis fungoides, but in only one of the eight patients with stage I and in neither ...

Seven patients with the Frégoli syndrome were described. These patients were studied clinically and by routine laboratory tests, electroencephalograms (standard and sleep recordings, sphenoidal electrodes), echoencephalograms, air-encephalograms, brain scanning, and psychological methods (Wechsler, Rey and Benton tests). The following basic conclusions were drawn: All patients were psychotic and in most ...

Alpha-1-antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty-six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The significance of an M variant phenotype in ...

The operative records of seventy-one patients who had parotid surgery carried out in the ten year period from 1964 to 1973 were reviewed. Forty-one (67%) of the operations were suprafacial parotidectomies. Of the fifty patients who agreed to reassessment in a special clinic, seventeen had a noticeable degree of Frey's ...

Urinary total, isomer I and isomer III coproporphyrin excretion was determined in 11 patients with Rotor's syndrome, 23 phenotypically normal family members, 16 patients with the Dubin-Johnson syndrome and 20 normal control subjects. Control subjects excreted 24.8 +/- 1.3 per cent (mean SEM) of urinary coproporphyrin as isomer I. Patients ...

Argon laser photocoagulation was performed on 30 patients with ocular histoplasmosis syndrome involving the macula. Selection of patients for photocoagulation was dependent upon locating the sub-retinal neovascularization (SRNV) at least one vein-width removed from the capillary-free zone of the fovea on fluorescein angiography. Of the 30 treated patients, 27 maintained ...

Seven of 9 patients with Felty's syndrome exhibited cryoglobulins in greater amounts than found in uncomplicated RA but similar to amounts found in RA with vasculitis. Antinuclear antibodies were found in high titer in the sera and cryoglobulins of Felty's patients; when compared to SLE patients, whose sera and cryoglobulins ...

Twelve patients referred to a general surgeon with special interest in varicose veins were found to have vulval varices. All the patients were considered to be suffering from the pelvic congestion syndrome. Their radiological investigation by percutaneous vulval phlebography is described. It is suggested that patients with vulval varices should ...

An ultrastructural study of 2 patients with Netherton's syndrome (bamboo hair, scaling dermatosis, and an atopic diathesis) showed features of psoriasis and a dermatitis. Although the biopsies from the patients showed histological and ultrastructural similarities, the clinical presentations were different. One patient had ichthyosis linearis circumflexa, while the other had ...

The serum levels of IgA, IgM, IgG and IgD were determined in patients with Down's syndrome (69 cases), Oligophrenia (101 cases) and Morbus Wilson (18 cases). In sera from Down's syndrome patients a significant increase in the levels of IgA, IgG and IgD were found. IgM levels were identical to ...

A retrospective investigation of 89 cases of the Stevens-Johnson and/or Lyell's syndrome showed that 77 patients (87%) had been treated with drugs, 2/3 of them for symptoms of respiratory and/or urinary infections. The most frequent drugs were longterm sulfonamide preparations, penicillins, butazones and antiepileptics. Mycoplasma pneumoniae and Staphylococcus aureus were ...

To evaluate the effectiveness of splenectomy in the treatment of Felty's syndrome (association of rheumatoid arthritis, leukopenia, and splenomegaly), such experience from 1968 to 1972 at the University of Alabama Medical Center in Birmingham was analyzed. There were five patients with Felty's syndrome who underwent splenectomy. In all five patients, ...

The levels of urinary and serum granulopoietic factor have been determined in nine patients with Felty's syndrome and compared with similar levels in patients with rheumatoid arthritis without Felty's syndrome and patients with neutropenic disorders of other causes. These studies have shown that urinary and serum levels of colony stimulating ...

The expression of blood group antigens A and B has been studied in 8 ameloblastomas, 16 odontogenic keratocysts from patients with basal cell nevus syndrome, 11 odontogenic keratocysts from patients without the syndrome, and 12 non-keratinizing odontogenic cysts, using a double layer immunofluorescence staining technique. The amount of antigen in ...

The determination of transketolase activity and of pyruvic acid after glucose loading in 20 patients with the Wernicke-Korsakow syndrome and in 14 other patients is described. Glucose loading took place after the first injection of thiamine. Normal values for transketolase were found in 10 patients with the Wernicke-Korsakow syndrome, for ...

By means of a standard lymphocyte microcytoxic technique, the tissue types were fully determined in 41 patients with non-gonococcal urethritis and 25 patients with Reiter's syndrome. The antigen HL-A27 was identified in 14 of the patients with Reiter's syndrome and occurred in 3 of the patients with non-gonococcal urethritis. An ...

Following preincubation of intrinsic factor- (IF-) bound 57CoB12 with the jejunal sediments of 6 patients with the blind-loop syndrome, the mean uptake by the sediments of IF-57CoB12 (28.1 percent plus or minus 4.2 percent S,E.M.) was significantly higher than the mean uptake by jejunal sediments from 5 control patients (5.8 ...

Patients with Gilbert's syndrome suffer from an abnormality which makes them jaundiced from time to time. A number also develop gallstones and come to cholecystectomy. If this condition has not been recognized these patients may subsequently run the risk of unnecessary operations on their bile ducts from the mistaken assumption ...

Wiskott-Aldrich syndrome is characterized by numerous humoral and cellular immune abnormalities including anergy, defective antibody production, and increased immunoglobulin synthesis. To define better the mechanisms of defective cellular immunity in this disorder, lymphoproliferative responses, lymphokine production, and the chemotactic responsiveness of mononuclear leukocytes (MNL) from patients with Wiskott-Aldrich syndrome were ...

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocytes from 14 patients with the Lesch-Nyhan syndrome for the presence of hypoxanthine-guanine phosphoribosyltransferase activity and enzyme protein. ...

The endocrinologic status of three patients with the Kallmann syndrome and anosmia were studied. Other than hypogondotropic hypogonadism, no abnormalities were found. Although the testosterone response to human chorionic gonadotropin was normal in all three patients, none of them responded to the antiestrogen, clomiphene. These patients are compared to others ...

Electroretinographic studies were performed on many of the patients studied by Gills et al in 1965. An additional 13 patients with mucopolysaccharidoses were also studied. The ERG is normal in all patients with the Morquio syndrome (MPS IV), the Maroteaux-Lamy syndrome (MPS VI) and pseudo-Hurler polydystrophy. The ERG is abnormal ...

Thesis (M.S.)--University of Kentucky, 2006.

Introduction: Delirium, an organic psychiatric syndrome, occurs in 10% of hospitalized patients and is characterized by fluctuating consciousness and impaired cognition, perception, and behavior.

Aims—To determine whether neutrophil elastase and cathepsin G are expressed, at transcriptional or translational levels, in the bone marrow from a patient with Chediak-Higashi syndrome.

Five patients are reported with sickle cell syndromes (HbSS, HbSC and HbSthal) in whom rapid exchange transfusion led to resolution of life-threatening infarctive crises. The technique appears to be of value in the management of severe complications of sickle cell syndromes.

Normal concentrations of C1 esterase, C1s, have been found in nineteen individuals with a variety of immunologic deficiency syndromes. C1q levels are markedly low in patients with lymphopenic hypogammaglobulinaemia. The lack of correlation of serum concentrations of C1s with C1q in several patients suggests a separate mode of synthesis or ...

Peripheral blood leukocytes of three patients with Chediak-Higashi syndrome (CHS) contained very low or undetectable levels of elastase, the major neutral protease in these cells. Likewise, peritoneal exudate leukocytes of beige mice (the murine counterpart of CHS) contained correspondingly reduced levels of their major neutral protease, a serine enzyme of ...

The clinician needs to rehabilitate the patient with the patellofemoral syndrome based on biomechanics and anatomy. If we understand the function of the patella and the forces acting upon it, we can educate our patients to ensure their compliance through both the treatment phase and future maintenance.

We have designed a searchable database containing short video clips of patients with a variety of genetic syndromes for the purpose of teaching genetics fellows and counselors to recognize clinical features associated with specific syndromes and to enable research geneticists to place patients with similar dysmorphologies into groups which may ...

Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. ...

Hunter syndrome (mucopolysaccharidosis type II) is a rare lysosomal storage disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulphatase and the subsequent progressive cellular accumulation of glycosaminoglycans. Children with this debilitating disease can now be offered enzyme replacement therapy (ERT) with idursulfase to manage the signs and symptoms of ...

A 7-year-old white girl who underwent open heart surgery for tetralogy of Fallot subsequently developed the post-pericardiotomy syndrome. In addition to pericarditis, other factors, such as surgical trauma to the pleura, pleural effusion with loculated fluid and perhaps atelectasis with pneumonitis, may contribute to the establishment of this syndrome. Despite ...