Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations. Although this syndrome is rare, the ...

The ultrastructure of the bronchial epithelium in three children with recurrent bronchopneumonia, four patients with cystic fibrosis and two with Kartagener's syndrome was studied. The children with recurrent bronchopneumonia and those with Kartagener's syndrome had mostly changes in the pseudostratified ciliated epithelium, and two of them had ultrastructural signs of ...

Fasting levels of cholic acid conjugates were determined by radioimmunoassay in the serum of 24 patients with extensively documented Gilbert's syndrome and in 98 healthy controls without unconjugated hyperbilirubinemia. The Gilbert's syndrome patients studied included all three subtypes, as determined from studies of the plasma disappearance kinetics of sulfobromophthalein and ...

Serum IgG, IgM, IgA, IgD and IgE concentrations were examined in 26 patients with Behcet's syndrome, 70 patients with recurrent aphthous stomatitis and 56 healthy controls. IgA concentrations, but not IgG, IgM, IgD or IgE, were significantly raised in Behcet's syndrome compared with controls. Serum IgD and IgE concentrations but ...

One hundred and twenty-two consecutively hospitalized patients with ankylosing spondylitis (AS) were reexamined. Ninety-two per cent were HLA B27 positive. Of the HLA B27 negative patients, 60% were found to have psoriasis, as opposed to 11% of the HLA B27 positive patients. Acute anterior uveitis (AAU) was found only in ...

Four patients made substantial recovery following the locked-in syndrome of vascular origin. Clinical and radiologic features supported the presence of ventral pontine infarction secondary to basilar artery occlusion. Quadriplegia and mutism persisted for one to 12 weeks before recovery of motor function began. Improvement continued over several years. All patients ...

99mTc-HIDA cholescintigraphy was performed in 6 patients with Dubin-Johnson syndrome and 1 patient with Rotor syndrome. In the patients with Dubin-Johnson syndrome, the cholescintigrams had a characteristic pattern of delayed visualization or nonvisualization of the gallbladder and bile ducts in the presence of intense, homogeneous, and prolonged visualization of the ...

Circadian rhythms of catecholamines were investigated in 4 healthy subjects and in 6 patients suffering from an apallic syndrome. The clinical picture of this syndrome is characterized by disturbed consciousness (coma vigile), by suspension of the sleeping and waking rhythm, by lack of emotional reactions and by appearance of primitive ...

The activities of alpha-L-iduronidase (EC 3.2.1.76) were measured, by a microassay with phenyl-alpha-L-iduronide as the substrate, in cultured fibroblasts from patients with the Hurler syndrome (MPS IH) or the Scheie syndrome (MPS IS) and from heterozygotes.l The iduronidase activities in the cells from 44 MPS IH and 7 MPS IS ...

BRT and CBR were determined from studies of radiobilirubin kinetics in 14 patients undergoing splenectomy for hereditary spherocytosis. Studies were conducted both before and after the operation in order to assess the effects of the postsplenectomy fall in BRT on CBR. Splenectomy led to a doubling of the RBC-t1/2 from ...

An oral tolerance test using a 25-mg dose of ursodeoxycholic acid was carried out in 46 patients with constitutional hyperbilirubinemias: 26 with Gilbert's syndrome, 9 with Dubin-Johnson syndrome, 7 with Rotor Syndrome, 3 with constitutional indocyanine green intolerance, and 1 with Crigler-Najjar syndrome type II; they were compared with 14 ...

In five patients with a tilted disc syndrome the visually evoke potentials were examined by means of pattern stimulation. It was hoped that by such an examination this syndrome could be distinguished from a chiasma syndrome, since it is known that compression of the anterior visual pathways causes delayed responses, ...

Eight patients with the hemolytic uremic syndrome had depression of percentage of red cell phosphatidyl ethanolamine content. Five patients also had subnormal plasma tocopherol levels. In addition all patients had significant increases in total plasma lipids which could contribute to peroxidative damage. The association of depressed red cell phosphatidyl ethanolamine ...

The authors describe 13 psychotic patients who had Capgras syndrome. Only 4 patients had evidence of organicity. The authors conclude that Capgras syndrome occurs equally in functional psychosis and in the presence of organicity and recommend that the presence or absence of organicity be determined in every patient with Capgras ...

A patient with 47, XXY karyotype, Klinefelter Syndrome, and hemifacial microsomia (unilateral microtia and mandibular hypoplasia) is described. In view of the fact that this is the second reported patient with hemifacial microsomia and a sex chromosomal abnormality, the relationship of these two findings is discussed. Appropriate diagnostic work-up of ...

The nosological status of Kretschmer's syndrome of sensitive delusions of reference (Sensitiver Beziehungswahn) has been a matter of discussion over many years. In an attempt to resolve the matter, a series of 147 consecutive patients who had been diagnosed as schizophrenic were reviewed. A group of 13 patients met specified ...

The slopes of the V/T curves of masticatory muscles were determined in patients with MPD syndrome, and the changes in the slopes were observed prior to and during electrical muscle stimulation and splint therapy. The slopes of the V/T curves in patients with MPD syndrome were significantly steeper than those ...

Serologic evidence for ECHO virus 22 was found in 8 of 10 patients with hemolytic uremic syndrome. The virus was isolated from the stools of two patients. All these patients also had gastroenteritis prior to the development of the syndrome. The results of this study indicate that ECHO 22 virus ...

The role of prostacyclin and thromboxane A2 in the pathogenesis of Bartter's syndrome was investigated by measurement of the urinary excretion of 6-keto-PGF1 alpha and thromboxane B2, respectively, in five patients. The prostaglandin metabolites were extracted from urine by a reproducible method and measured by specific radioimmunoassays. The patients with ...

Patients with presumed ocular histoplasmosis syndrome were typed for HLA-A, B, C, and DR antigens. It was found that 21 (81%) of 26 of the presumed ocular histoplasmosis syndrome patients with disciform macular scarring and 8 (62%) of 13 of the presumed ocular histoplasmosis syndrome patients with peripheral atrophic spots ...

The practitioner who treats patients with MPD should be aware that certain anatomic variations may predispose a patient to developing the syndrome. We feel that the newly described entity, the short-face syndrome, is such an example. Patients exhibiting short-face syndrome are overclosed. Their condition appears to be improved by establishing ...

Comparison of autonomic and muscular response to experimentally induced stress in normal individuals and patients with myofascial pain dysfunction (MPD) syndrome revealed greater masseter and frontalis activity in the patient group, higher gastrocnemius activity in control subjects, and no significant difference in skin conductance and heart rate. This specificity of ...

Testicular function in the patient with Klinefelter's syndrome parallels the alterations seen with age in the normal subject. Significant decreases are seen in the Klinefelter group in the plasma level of testosterone and in the plasma testosterone/oestradiol ratio. Testicular function in the patient with Klinefelter's syndrome appears very much like ...

Forty-eight patients with Usher's syndrome were assess for the degree of visual loss, extent of lens opacities, and presence of foveal lesions. Twenty-one patients (44%) showed either atrophic or cystic-appearing bilateral foveal changes. Despite having foveal lesions and variable degrees of lens opacities most patients maintained central visual acuity of ...

In four patients with the Shy-Drager syndrome, detailed pathological findings in the central nervous system are described. All four patients had striatonigral degeneration, olivopontocerebellar atrophy, pyramidal tract degeneration and ventral horn cell loss. Along with the multisystem degeneration, there was widespread loss of thoracolumbar autonomic neurons, which was demonstrated by ...

We have reported the dermatoglyphic findings on the soles of eighty Japanese Klinefelter's syndrome patients (47,XXY). As compared with normal Japanese males and females, three statistically different traits were observed: (1) Distal loops in the hallucal area are smaller, (2) pattern intensity is higher, and (3) the frequency of triradius ...

Numerous investigations have been conducted in an effort to determine the cause of the female urethral syndrome. Bacterial and anatomic causes rarely have been identified. Using the MMPI, we evaluated 56 women with thus syndrome and compared them with control patients of similar ages. Statistically significant increases in the F, ...

Two patients, one with Bartter's syndrome and one with severe abuse of diuretics, were investigated before and after indomethacin treatment. Before indomethacin the two patients showed a similar pattern of hypokalaemic alcalosis, secondary hyperaldosteronism, and increased urinary excretion of PGE2 and kallikrein. After a few days on peroral indomethacin medication ...

Clinical and haematological data on 14 patients (8 women and 6 men) with alcohol-induced haemolytic anaemia and mild to moderate liver injury are presented. Nine of the patients were obvious drinkers, while 5 were socially well adjusted individuals in whom alcohol dependence was not suspected on admission to hospital. Four ...

A total hip arthroplasty was undertaken in a 49-year-old man who had previously spontaneously ankylosed both hips. In addition, the patient possessed hyperostosis of the spine and calf, not characteristic of any previously described spondylitic or hyperostotic syndrome. Nine months postoperatively the patient reankylosed the total hip arthroplasty. This case ...

Serum immunoglobulin levels were measured in 20 patients with Down's syndrome and 16 mentally retarded cerebral palsy control patients. Significant elevation of IgG and IgD levels were found in the Down's syndrome as compared with the control patients. Serum IgD level in Down's syndrome individuals significantly decreased with increasing age. ...

Thirty-three eyes of 25 patients with previously unrelieved recurrent erosion syndrome were treated with soft contact lenses. Marked improvement was obtained in 16 cases, moderate in 6, and 11 patients showed no improvement. Patients with visible anterior membrane dystrophies and spontaneous recurrent erosion syndrome responded best. Patients with posttraumatic recurrent ...

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 ...