The Marfan syndrome is a genetic disorder of connective tissues resulting in ocular, cardiovascular, and musculoskeletal deformities. The authors reviewed 22 cases of Marfan syndrome. Forty-five percent (ten of 22) of the patients had acetabular protrusion, with one-half of these being unilateral and one-half bilateral. Scoliosis was associated with acetabular ...

The Marfan syndrome, a generalized inherited disorder, is usually diagnosed in young patients and is associated with a poor prognosis. With use of our diagnostic-retrieval system, we identified 28 patients with the Marfan syndrome who were 32 years of age or older at the time of diagnosis. These patients had ...

Although most patients with Zollinger-Ellison syndrome can be effectively treated with histamine H2-receptor antagonists, many patients require large doses of drug to inhibit gastric acid secretion adequately. The purpose of the present study was to compare the pharmacokinetics of a 1200-mg oral dose of cimetidine in 9 patients with Zollinger-Ellison ...

Pseudo-Zollinger--Ellison syndrome appears to very rarely afflict young children. Hypergastrinemia, regardless of the etiology, presents with signs and symptoms of nonhealing or multiple gastric or duodenal ulcers, or both. We present a 7-yr-old boy with fasting hypergastrinemia (serum gastrin 200-500 pg/ml) who had mild to moderate iron deficiency anemia, but ...

The ability of famotidine to control gastric acid hypersecretion in 32 patients with Zollinger-Ellison syndrome was compared to that of cimetidine or ranitidine. Equipotent doses of each drug were determined in nine patients and famotidine was nine times more potent than ranitidine and 32 times as potent as cimetidine. Famotidine ...

A study has been made of the gastric secretions from a patient with Zollinger-Ellison syndrome without peptic ulceration, before and after treatment with cimetidine. The amount of non-diffusable glycoconjugates was measured as an index of mucin output, and found to be within normal limits. Cimetidine, which greatly reduced the volume ...

An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by auscultation and two-dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, ...

In Zollinger-Ellison syndrome (ZES), the discovery of gastrinomas in unusual locations, such as a lymph node, poses a diagnostic problem centered on whether the neoplasm is primary or metastatic. The clinical, gross, microscopic, immunocytochemical, and ultrastructural features of ectopic gastrinomas were studied in four patients with ZES, and reports of ...

A 38 base pair (bp) insertion in the pro alpha 2(I) collagen gene (COL1A2) of a patient with Marfan syndrome has been proposed to be the possible cause of the disease (Henke et al. 1985). However, analysis of this insertion in DNA from the patient in question and from random ...

The carcinoid syndrome is usually produced by an ileal carcinoid tumour that has metastasized to the liver but can also be caused by similar tumours in many other organs. These neoplasms create a variety of radiological appearances which are often characteristic. In recent years percutaneous embolization of hepatic carcinoid metastases ...

We prospectively studied the occurrence of Reiter's syndrome (RS) or reactive arthritis (ReA) in 205 of 349 cruise-ship passengers who attended a buffet ashore and developed Shigella flexneri 2a enteritis. Five passengers probably had RS/ReA and 16 were possible or doubtful cases of RS/ReA. HLA-B27 was identified in 4 of ...

Primary duodenal carcinoid causing a malignant carcinoid syndrome is rare. Herein a case is reported. In view of this case and a review of the literature, the carcinoid syndrome is almost pathognomonic of massive liver metastasis or involvement of organs whose venous drainage is not through the portal system. The ...

Pectus excavatum occurs in two thirds of children with Marfan's syndrome. The characteristics of seven children with Marfan's syndrome and pectus excavatum were compared with those of 38 children who had pectus excavatum without Marfan's syndrome. The children with Marfan's syndrome presented later, had progressive defects, and were more likely ...

In the classic subclavian steal syndrome, vertebrobasilar insufficiency is caused by reverse flow in the vertebral artery ipsilateral to a subclavian stenosis or occlusion. We present two patients with vertebrobasilar insufficiency and ipsilateral vertebral and subclavian occlusive disease. The postulated mechanism of vertebrobasilar insufficiency is reverse flow in collateral neck ...

A 63-year-old man with a 2-year history of upper gastrointestinal ulcers was found to have the Zollinger-Ellison syndrome. Despite histologic verification of gastrinoma, several fasting serum gastrin concentrations were normal. However, in response to intravenous secretin infusion, a paradoxical increase in serum gastrin levels indicative of gastrinoma was seen. Although ...

The gastric emptying study using Tc-99m triethylene tetramine polystyrene resin with or without metoclopramide hydrochloride was used in six patients with different disease entities: achalasia, gastric lymphoma, primary amyloidosis, Zollinger-Ellison syndrome, duodenal diverticulum, and short bowel syndrome. All patients had abnormally prolonged gastric emptying times. The patient with gastric lymphoma ...

This report describes a 33-year-old woman who presented with renovascular hypertension secondary to retroperitoneal fibrosis, associated with a carcinoid tumour with widespread metastases. Although the association is rare, it is important to consider carcinoid tumour as a cause of idiopathic retroperitoneal fibrosis, even in the absence of the carcinoid syndrome.

The question of whether serotonin is deaminated by MAO before it can be released or after release has occurred was investigated by studying the 5-HT behavioral syndrome in acutely reserpinized rats. The release of serotonin from vesicles by reserpine does not produce the serotonin behavioral syndrome which is an in ...

A 1.5-mm gastrinoma of the duodenal wall was discovered during dissection of a duodenal ulcer in a patient in whom the Zollinger-Ellison (ZE) syndrome was later suspected due to gross autopsy findings. Multiple duodenal ulcers and gastric rugal hypertrophy were noted, and hyperplasia of the parietal cells associated with a ...

A case of persistent bilateral perilunate dislocation unrelated to trauma in a patient with Marfan syndrome is discussed. This finding is believed to be a manifestation of the generalized ligamentous laxity occurring in this disorder. Radiographs of eight additional Marfan syndrome patients failed to demonstrate similar carpal instability. Because some ...

The realisation that serotonin plays a role not only in the carcinoid syndrome but also in migraine, nociception, dumping syndrome, vascular disease and hypertension, has led to an enormous amount of activity in search of serotonin antagonists. Numerous such pharmacological agents have been identified but only few have found their ...

The carcinoid syndrome is characterized by a complex of neuroendocrine and chemical abnormalities whose cause is not known. Carcinoids vary in their tendency to produce the carcinoid syndrome, although ileal tumors and those that have metastasized are more frequently associated with manifestations of the syndrome. The unifying concept of a ...

A case history of a pregnant patient with the Marfan syndrome is presented. During pregnancy regular echocardiographic examinations were performed, showing a slight increase in the aortic root diameter 1 month after delivery. The hydroxyproline content of the amniotic fluid appeared to be significantly elevated; however, the baby did not ...

Congenital abdominal aortic aneurysms are medical curiosities because of their rare occurrence even in groups with hereditary derangements of connective tissue metabolism (e.g., Marfan's syndrome and Ehlers- Danlos syndrome). We present the case of a 2 1/2-year-old boy with a congenital aneurysm of the aortoiliac bifurcation managed by excision and ...

Distal aortitis was diagnosed in a 44 year old man who had previously shown clinical features of Reiter's syndrome. This appears to be the first reported case of distal aortitis associated with Reiter's syndrome.

Marfan syndrome is an autosomal dominant condition with varying phenotypic manifestations. Affected persons are usually heterozygotes. A family is presented in which the gene for this syndrome is segregating in a large number of members. Two sibs suffered from unusually severe, identical, and fatal manifestations from birth, their parents having ...

At least twenty-four reports of pneumothorax associated with the Marfan syndrome have appeared in the medical literature, but the frequency and optimal method of treatment remain unclear. We conducted a retrospective review of medical records from one genetics clinic and found that the frequency of spontaneous pneumothorax in patients older ...

A previously healthy 34-year-old Dutch immigrant to Australia died unexpectedly in his sleep. At autopsy the only significant finding was a floppy aortic valve (FAV). Histologic, histochemical and electron microscopic studies corroborated the macroscopic diagnosis. Previously described associations of the FAV include the floppy mitral valve, Marfan's syndrome, aortic root ...

Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This ...

Reiter's syndrome is an uncommon cause of childhood arthritis and aortic incompetence is extremely rare in these patients. A 7-year-old boy with Reiter's syndrome and hemodynamically significant aortic insufficiency is reported. He was HLD-B27 positive and valvular incompetence was detected 32 months after the onset while active synovitis was still ...

Chlamydia trachomatis was isolated from 9 of 19 men with acute, nondiarrheal Reiter's syndrome who had not recently taken antibiotics. None of 8 untreated men with other forms of arthritis were infected with this organism. Chlamydia trachomatis-specific antibody titers and cellular immune responses were positive significantly more often in 35 ...

A unique case of Marfan's syndrome is presented in which the diagnosis was first established during early labor when the patient presented with chest pain, hypotension, and fetal distress as the earliest symptoms and signs. Prompt diagnosis in combination with correct medical and surgical therapy resulted in the survival of ...

Although esophageal disease in Zollinger-Ellison syndrome is being recognized with increasing frequency, Barrett esophagus is seen only rarely. Basal lower esophageal sphincter pressure is probably not different in Zollinger-Ellison syndrome and non-Zollinger-Ellison syndrome patients. Circulating gastrin, therefore, cannot be the major determinant of lower esophageal sphincter pressure in vivo. Total ...

In a patient with the Zollinger-Ellison syndrome who had undergone vagotomy, pyloroplasty and, later, gastrojejunostomy, epigastric pain and stomal ulceration recurred despite the use of high doses (2700 mg/d) of cimetidine. Ranitidine, a new histamine H2-receptor antagonist, reversed all symptoms and healed the stomal ulcer without side effects, thus obviating ...

The Larsen syndrome consists of a skeletal dysplasia with multiple joint dislocations and a characteristic facies. The basis of the abnormalities is felt to be a generalized mesenchymal disorder involving connective tissues. More than 80 cases have been reported in the literature with isolated reports of congenital cardiac septal defects ...

A patient is presented who had features of Reiter's syndrome for 10 years before developing features of rheumatoid arthritis. Diagnostic criteria for both diseases are fulfilled, and HLA typing revealed the presence of both B27 and DR4 antigens. The coexistence of Reiter's syndrome and rheumatoid arthritis appears to have occurred ...

Nutrient malabsorption occasionally occurs in the setting of acid hypersecretion with the Zollinger-Ellison syndrome. Previous incomplete reversal of this malabsorption with therapy has probably been due to inadequate suppression of acid secretion with medical therapy or disturbances of anatomy and physiology occurring as a result of surgical therapy. A patient ...

In the last 10 years, the basis for the diagnosis and treatment of gastric hypersecretion in Zollinger-Ellison syndrome has changed dramatically. The diagnostic criteria have changed because gastrin hypersecretion by a non-beta islet tumor is now known to be responsible for gastric hypersecretion, and gastrin radioimmunoassays are now widely available. ...

Over the last few years the approach to managing patients with the Zollinger-Ellison syndrome has changed dramatically. The establishment of gastrin hypersecretion by a non-beta islet cell tumor as responsible for the gastric acid hypersecretion, and the subsequent development and widespread availability of gastrin radioimmunoassays have changed the criteria generally ...

Aortae from three patients with classic presentation of Marfan syndrome, who died of vascular complications, were subjected to biochemical analyses of the connective tissue; for comparison, aortae from eight age-matched controls, without evidence of connective tissue abnormalities, were examined. Elastin was prepared from the aortae by two techniques. First, the ...

Immunoprotein deposition has been demonstrated in the synovium of patients with Reiter's syndrome. Because of this fact and the controversy regarding the nature and cause of the conjunctivitis in Reiter's syndrome, conjunctival biopsy specimens were taken from eight patients with classic Reiter's syndrome. These specimens were examined histopathologically, immunopathologically, and ...

Two out of 118 patients with mitral valve prolapse were found to have pre-excitation. The presence of mitral valve prolapse in one patient with Lown-Ganong-Levine syndrome and the persistence of prolapse in the presence and absence of pre-excitation in another patient with intermittent type B Wolff-Parkinson-White syndrome suggest that mitral ...

Statistical assessment has been made of synovial mononuclear cell responses to ureaplasma, chlamydial, enterobacteriaceae and mumps antigens in 16 cases of sexually transmitted Reiter's syndrome, 8 cases of enteric Reiter's syndrome and 12 cases of rheumatoid arthritis. These 3 groups of patients can be differentiated by synovial mononuclear cell responses ...

A distinctive keratitis occurs commonly in Reiter's syndrome. In three patients with Reiter's keratitis, two demonstrated the typical features of prodromal conjunctivitis, subepithelial and anterior stromal infiltrates, ragged epithelial erosions, and spontaneous resolution. A third case of rare, severe keratitis in addition had an associated finding of disciform keratitis. To ...

Two cases are presented, both males with severe total spondylolisthesis and both with Marfan's syndrome. One was treated by decompression and posterolateral fusion and the other by decompression, posterolateral fusion, reduction by halo-femoral traction, and then anterior fusion. Both had excellent results in terms of pain relief and relief of ...

A patient with the carcinoid syndrome had flushes provoked by the ingestion of water at 60 degrees C, red wine, and milk chocolate. The patient was given sequential courses of clonidine hydrochloride, chlorpheniramine maleate, cimetidine, and a combination of chlorpheniramine and cimetidine. No flushes followed ingestion of red wine or ...

The effects of synthetic human gastric I (SHG I) and gastrin-like pentapeptide (PG) on jejunal water, electrolyte, and glucose absorption were studied in 11 normal subjects. The i.v. administration of graded doses of SHG I increased plasma gastrin levels similar to those after food intake and in the Zollinger-Ellison syndrome. ...

A case of hypergastrinemia, diarrhea, and relentless hypokalemia occurring in a middleaged, mildly hypertensive female is described. The presence of a gastrinoma was suggested by the additional findings of an inordinate degree of hypokalemia for the amount of thiazide used for the treatment of her hypertension; failure of her hypokalemia ...

The purpose of the investigation was to detect ulcer patients having nontumorous hypergastrinemic hyperchlorhydria and to diagnostically differentiate this pseudo-Zollinger-Ellison syndrome from neurogenic duodenal ulcer disease and pancreatic gastrinomas. Nine patients having clinical, radiologic and humoral findings simulating the Zollinger-Ellison syndrome or severe duodenal ulcer disease were studied by physiologic ...

Mitral valve prolapse (MVP) associated with congenital bicuspid aortic valve (CBAV) is an uncommon finding. In a study of 257 black patients with MVP, the author identified eight patients with associated CBAV. This paper discusses the association of the two lesions in relation to etiologic and surgical implications.