The mechanism of polycythemia associated with the Budd-Chiari syndrome is unknown. Erythropoiesis in 10 patients with Budd-Chiari syndrome was studied in an attempt to distinguish prior unrecognized polycythemia vera from secondary polycythemia. Serum erythropoietin was assayed using a mouse fetal liver erythroblast assay. High concentrations of serum erythropoietin were observed ...

Urinary excretion of 5-hydroxylysine (Hyl) and its two glycosides, a monoglycoside (Gal-Hyl) and a diglycoside (Glc-Gal-Hyl), and the ratio of the diglycoside to monoglycoside have been studied in 30 patients with Turner's syndrome and in 38 healthy controls. In patients, the urinary excretion of Hyl and its diglycoside was similar ...

Oligomenorrhea was the reason for consultation in three individuals (two sisters and one unrelated woman) with the pseudo-pseudohypoparathyroidism (PPHP) variant of Albright's hereditary osteodystrophy (AHO). All had short stature, Ullrich-Turner-like signs, acral anomalies typical of AHO/brachydactyly E, and hypogonadism. One of the three individuals also had reduced erythrocyte NS (a ...

Two hundred consecutive cases of the sudden infant death syndrome were reviewed for the presence of fat in the liver; 14 showed diffuse panlobular microvesicular fatty change indistinguishable from that found in Reye's syndrome. Samples of frozen liver were available in five of the 14 cases; histochemical analysis showed well ...

Young male ferrets developed hyperammonemia and encephalopathy shortly after eating a diet lacking in arginine. The dietary supplementation of arginine or intraperitoneal injection of ornithine prevented hyperammonemia and shortened the duration of encephalopathy. Therefore, young ferrets were assumed to be unable to meet their ornithine needs from sources other than ...

Hypophosphatemia may occur in Reye's syndrome. We retrospectively studied 42 patients with Reye's syndrome to determine the frequency and degree of hypophosphatemia, to identify possible causes, and to determine whether hypophosphatemia was related to the severity of disease or mortality. Nineteen (46%) patients were hypophosphatemic at the time of hospital ...

We present a case of adrenogenital syndrome associated with Turner's syndrome mosaicism in which a urogenital sinus Z-plasty was performed. With such patients, a multidisciplinary approach to management is mandatory.

An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. ...

A female patient with a clinical picture of Turner's syndrome had five separate malignant tumors (three squamous cell carcinomas of the tongue, a colon cancer, and a glioblastoma multiforme). Her peripheral blood cells showed a 45,X/46,XXp-/46,XX/47,XXX mosaicism. The findings are discussed in relation to other extragonadal tumors in Turner's syndrome ...

We report an association between idiopathic hypereosinophilic syndrome and obstruction of the hepatic veins (Budd-Chiari syndrome). Budd-Chiari syndrome was assessed by liver biopsy and hepatic phlebography and documented by computed tomography. Postmortem examination revealed fibrous occlusion of the hepatic venous tree, as well as fibrosis of the endocardium and of ...

Non-cytopathic injury by non-adapted viruses to the neurons of the locus ceruleus is suggested as the etiology of Reye's syndrome. Disruption of the blood brain barrier due to abnormal physiology of the locus ceruleus with decreased production of norepinephrine and increased alpha-melanocyte stimulating hormone activity is presented as the cause ...

The isolation of adenovirus from the liver of an infant with Reye's syndrome prompted a retrospective review to determine the role of this group of viruses in the cause of Reye's syndrome. A total of 34 patients with Reye's syndrome who were admitted to Vanderbilt University, Nashville, Tenn, during a ...

A patient with non-mosaic Turner syndrome and normal fertility had four documented pregnancies, two of which were carried to term. Although her fertility history can be considered normal, she did not have spontaneous sexual maturation or menarche, and bilateral streak gonads were identified on laparotomy for tubal ligation. A review ...

In order to reinvestigate a strong reported association, we attempted to identify aflatoxin in the livers of 12 children who presumably died of Reye's Syndrome and in the liver of one child who died accidentally. Aflatoxins were detected, but not confirmed in only one of the liver specimens (limits of ...

We investigated whether a decrease in serum growth hormone contributes to the short stature of adults with Turner syndrome by measuring the 24-hour profile of serum growth hormone in 30 patients aged 2 to 20 years. Growth hormone pulses were defined as a rise from nadir to peak that exceeded ...

One of 170 patients with karyotype-proven Turner syndrome from our institution has had pseudotumour cerebri. This patient and one previous report suggest that patients with Turner syndrome may be predisposed to increased intracranial pressure. Fourteen patients with pseudotumour cerebri were ascertained from hospital records; karyotypes of four were obtained and ...

Serum concentrations of short and medium chain fatty acids, including octanoate, are elevated in hepatic encephalopathy and Reye syndrome. Injection of octanoate into animals produces features reminiscent of Reye syndrome, but the mechanisms are unknown. To evaluate the effect of octanoate on blood-brain barrier permeability, three techniques were used. Entry ...

The etiology and pathogenesis of Reye's syndrome, an often-fatal childhood disorder, is not completely understood. Although Reye's syndrome is initiated with a prodromal viral illness, the viral infection alone is not sufficient to cause the syndrome. Interactions of virus with dietary or environmental agents such as pesticides, solvents, or drugs ...

The aim of the present investigation was to analyze craniofacial morphology in adults with Turner syndrome and to compare the morphology in patients with 45,X karyotypes to that found in subjects with other X-chromosome aberrations. A comparison between 41 Turner patients and a control group of 51 normal adult women ...

Post-gastrectomy deficiency syndromes were investigated in a rural practice. The main finding was a high prevalence of iron deficiency both with and without anaemia. Regular checks on iron level in the follow-up of these patients is suggested.

A case of deletion of the proximal one-fourth of chromosome 3 long arm is described. While the Turner syndrome phenotype was present neonatally, the patient has no structural or numerical abnormality of the sex chromosomes, and thus may represent an autosomal deletion with a clinical picture similar to Turner syndrome. ...

Mos 45,X/46,X,r(?) in 4 patients with Turner's syndrome and no signs of virilization, and in one pair of monozygotic twins, one of them with clitoral hypertrophy, was studied using combined cytogenetic techniques and specially G-11 staining for the characterization of the X or Y origin of the rings. In all ...

Serum levels of ornithine carbamyl transferase activities were determined in the acutely ill and convalescent Reye's syndrome patients and in their parents. Acutely ill Reye's syndrome patients had elevated levels of serum ornithine carbamyl transferase activities as compared to those in controls. The convalescent Reye's syndrome patients and their parents ...

The prenatal identification of a cystic mass in the region of the fetal cervical neck should raise the possibility of a cystic hygroma which is commonly associated with Turner's syndrome. Differential diagnosis should also include benign cystic teratoma, meningocele, encephalocele, and meningoencephalocele. Careful sonographic evaluation of the fetus can help ...

All childhood liver biopsy specimens from The Cincinnati Children's Hospital Research Foundation which had been prepared for light and electron microscopy were reviewed to identify biopsies from children with salicylate intoxication. Only two cases of primary salicylate intoxication were identified. The histopathology and ultrastructural pathology were compared to that in ...

A 4-year-old girl with juvenile rheumatoid arthritis developed fever, protracted vomiting, disturbance of consciousness and decorticate posture following the administration of salicylate. There were elevated levels of transaminases in serum, hyperammonemia and a fatty liver. However, the fatty droplets were different electronmicroscopically from that of Reye's syndrome. This observation emphasizes ...

Hypotension refractory to volume infusion and sympathomimetic drugs developed in a child with Reye's syndrome who had received prochlorperazine prior to admission. Calcium chloride given intravenously restored autonomic tone, resulting in restoration of a normal BP and cerebral perfusion pressure. Calcium may reverse the hypotensive effects of prochlorperazine maleate and ...

A patient with XO Turner's syndrome with a 12-year history of progressive aortic root dilatation resulting in chronic aortic regurgitation is presented. Her case is unique in that it occurred in the absence of coarctation of the aorta, bicuspid aortic valve, or hypertension. Idiopathic dilatation of the aorta may be ...

Adult heights of 66 individuals with karyotype documentation of Turner syndrome were analyzed. The mean adult height of 29 individuals given growth-promoting hormones, oxandrolone or fluoxymesterone, did not differ significantly from that of 37 untreated subjects (148.1 +/- 4.7 vs 146.3 +/- 5.5 cm, respectively). The type of X chromosome ...

A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from both peripheral blood leukocytes and skin fibroblasts were consistent with ...

Turner syndrome has been the only genetic abnormality reported in which intrauterine cystic hygromas occur. We have recently seen three patients in whom cystic hygromas were detected in utero, and which turned out to be due to Turner, Down, and Noonan syndromes respectively. As the finding of a fetal cystic ...

Recently we have examined six phenotypically female fetuses in whom the prenatal diagnosis of Turner syndrome was made. All had ultrasonographic examinations during the second trimester. Four showed a striking posterior cranio-cervical lymphocele (cystic hygroma) having a symmetric, trefoil , septated appearance in the coronal plane, combined with serosal fluid ...

During a 7-year period, a 15-year-old boy experienced recurrent attacks that clinically and pathologically resembled Reye's syndrome. The attacks were precipitated by prolonged exercise, fasting or infections. An extensive investigation failed to identify a toxic cause or specific metabolic disorder. Low 14CO2 production after in vitro incubation of the patient's ...

Frequent seizures and loss of motor, language, and intellectual skills necessitated care in an institution for the physically and mentally handicapped for 4 years after diagnosis of presumed Reye's syndrome in a 10-month-old boy. M obius syndrome was diagnosed and bilateral tarsorrhaphy performed for exposure keratitis. Postmortem examination revealed multiple ...

A young woman with the Budd-Chiari syndrome is described. About 2 months after the onset of her illness, a mesocaval shunt with a 14-mm Gore-Tex prosthesis was performed. She recovered rapidly after the operation and returned to work 5 weeks postoperatively. Two years after the operation, hepatic veins were clearly ...

This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and ...

Reye's syndrome, encephalopathy and fatty change in the liver and other viscera, typically occurs suddenly in infants and children recovering from a viral illness, particularly influenza or varicella. Its rapid clinical course may suggest a drug-related insult and the differential diagnosis includes a variety of toxins. There are grounds for ...

Fatty liver and kidney syndrome (FLKS), a naturally occurring but experimentally reproducible disease in chickens, has several clinical, pathological, and biochemical features in common with Reye's syndrome. Because of this, it has been suggested that FLKS may serve as an animal model of Reye's syndrome. We have examined, therefore, various ...

We reexamined a previously reported, highly specific increase in the relative proportion of the mitochondrial isoenzyme of aspartate aminotransferase (AST) in the serum of patients with Reye's Syndrome. Using ion exchange chromatography, we measured mitochondrial, cytosolic, and total AST in serum samples from (1) 10 patients early in the course ...

In a one-year prospective study we assessed the incidence of Reye's syndrome in children presenting with the acute onset of vomiting after a prodromal upper-respiratory-tract infection or varicella, and with serum alanine or aspartate aminotransferase levels at least three times higher than normal, and a paucity of neurologic findings. Of ...

Electron microscopic and spectrophotometric studies showed that salicylate causes gross swelling of mitochondria in isotonic salt solutions. In overall morphology the salicylate-treated mitochondria resembled those from patients with Reye's syndrome. Salicylate analogs such as m-hydroxybenzoate, p-hydroxybenzoate, and benzoate did not exert this effect. The mitochondria deformed by salicylate tended to ...

A patient with Turner's syndrome anaesthetized on several occasions for laparoscopy, vaginoplasty and change of dressings is presented. Intubation was difficult due to webbing of the neck and a shortened tracheal length. Other problems in patients with this syndrome include difficulty in venipuncture, delayed excretion of drugs, associated cardiovascular anomalies ...

Although most cases of Reye's syndrome that were initially reported were fatal, the overall mortality is now 20 to 30 per cent, with an even lower rate in some series. Improvement is due to both increased awareness of this disease and advances in care for the critically ill child. A ...

The full phenotype of the Ullrich-Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16-year-old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a ...

A patient with Budd-Chiari syndrome who underwent orthotopic liver transplantation and developed recurrent disease is described. The immediate postoperative period was complicated by multiple thrombotic episodes, followed by a period of apparent remission associated with the initiation of coumadin and persantine therapy. After discontinuation of such antithrombotic therapy in order ...

Camphor is a potentially dangerous drug which nevertheless remains popular as a home remedy. Because of its hepatoneurotoxic effects, camphor toxicity may clinically mimic Reye's syndrome. The differentiation between the two requires histologic examination of liver tissue, further emphasizing the need for a liver biopsy to establish the diagnosis of ...

A case of Budd-Chiari syndrome is presented in which computed tomography (CT) and ultrasonography suggested the correct diagnosis and excluded adjacent tumor as the cause of hepatic vein occlusion. The CT appearance in this case (homogeneously increased attenuation of an enlarged caudate lobe) differed from the appearance previously reported (patchy ...

Three deaths from dissection of the aorta in a series of 157 adult women with Turner's syndrome are reported. These are greatly in excess of the numbers expected. None of the three patients had a coarctation of the aorta. One had aortic regurgitation but there was no reason to believe ...

We describe a 57-year-old patient with Turner's syndrome, iron deficiency anaemia and intestinal vascular abnormalities. Colonoscopy revealed 2 widely dilated, tortuous veins in the terminal ileum and several smaller ectatic veins and haemangioma-like malformations throughout the colon. Laparotomy for herniotomy showed only minimal vascular abnormalities of the serosal surface. Patients ...

This study indicates the association of a mycotoxin (aflatoxin B1) with Reye's syndrome. The presence of aflatoxin B1 in livers from 4 girls and 1 boy aged from 3 to 11 months was detected using two different techniques: a) direct chemical titration of aflatoxin B1 in liver extracts; and b) ...