Morphologic contribution to a progeria syndrome (Hutchinson-Gilford) (author's transl)

Report of necropsy findings of a 17 years old girl with a progeria syndrome. There was a high degree of generalized atherosclerosis, involving the visceral arteries, chiefly those to the kidneys. The patient died of nephrosclerosis with uraemia. The aetiology of progeria syndrome remains obscure, single findings (lipoprotein- and amino-acid metabolism) may be understood as an inborn error of metabolism.     

Extragenital malignant mixed mesodermal tumor: case report and review of the literature

The hypothesis is presented that our life span is genetically programmed and that it is possible that a defect in produced proteins encoded by the 'longevity' gene is a cause of aging. A study of correlations between defective enzyme activity in two diseases characterized by premature aging (progeria and Werner's syndrome) could assist in elucidating the common mechanism for all aging processes.     

Munchausen's syndrome and substance abuse

The syndrome of factitious disorders with physical symptoms was named "Munchausen's syndrome" by Richard Asher (1951). The present article contains an interesting case report of a patient who has a history of Munchausen's syndrome, substance abuse, and genuine physical illness. A review of the literature supports a strong association of substance abuse in patients with Munchausen's syndrome. Also important for clinicians to remember is that patients with Munchausen's syndrome often have true physical illnesses which need appropriate treatment. The patient described here has successfully begun treatment with methadone maintenance, but further study will be needed regarding methadone maintenance's role in the management of Munchausen's syndrome.     

Levels of DNA polymerases alpha, beta, and gamma in control and repair-deficient human diploid fibroblasts 1

The activities of DNA polymerases alpha, beta, and gamma were determined in control and repair-deficient human fibroblasts (xeroderma pigmentosum complementation groups A, C, and D; Fanconi's Anemia; and Bloom's syndrome). Assays were done on 103,000XG supernatants which had been chromatographed on DEAE cellulose to remove nucleic acids and on fractions containing polymerase activities which had been separated from one another on a second DEAE cellulose column. All repair-deficient cell types contained all three DNA polymerase activities. Caffeine, which has been observed to inhibit some DNA-repair processes in intact cells, had no effect on DNA polymerase activities from XP-A, XP-C, XP-D or XP-variant cells. These data indicate that all three polymerases are present in cells which have reduced or absent repair functions and that the caffeine effects observed in living cells are probably not due to the direct action of caffeine on DNA polymerases.     

Transcriptional activation of the factor VIII gene in liver cell lines by interleukin-6

PURPOSE: The pathogenesis of thrombocytopenia in patients with thrombocytopenia with absent radii (TAR) syndrome has not been clarified yet. PATIENTS AND METHODS: This is the first report of a Japanese patient with TAR syndrome. We studied his megakaryopoiesis in vitro and serum levels of thrombopoietin (TPO). RESULTS: Serum levels of TPO in the patient with TAR syndrome were comparable with those of an age-matched control. The bone marrow cells from the patient with TAR syndrome actually generated megakaryocyte colonies in the presence of TPO and the numbers were significantly greater than those from the age-matched control marrow. However, megakaryocyte colonies from the marrow cells with TAR syndrome contained a much lower number of cells per colony and the size of the individual megakaryocytes appeared to be smaller. CONCLUSION: These data suggest that megakaryocyte progenitors from patients with TAR syndrome may have decreased proliferative and differentiative capacity to respond to TPO, leading to thrombocytopenia.     

Aortic homograft and mitral valve repair in a patient with Werner's syndrome

We report the case of a 66-year-old man suffering from Werner's syndrome (adult progeria); he presented with several cardiac disorders, including coronary artery disease, aortic stenosis, and mitral regurgitation, mainly due to calcific deposits in the mitral annulus and the aortic cusps. Treatment consisted of mitral repair, homograft replacement of the aortic valve, and coronary artery bypass grafting. Avoidance of prosthetic material because of chronic infectious skin ulcers constituted the main goal of the operation.     

Pregnancy following the "insensitive ovary syndrome"

A patient in whom the "insensitive ovary syndrome" was followed by a successful pregnancy is reported and discussed. Conception occurred while this patient was receiving estrogen therapy. The marked differences in her ovarian responsivity to endogenous and exogenous gonadotropin stimulation remain enigmatic.     

Diabetic nephropathy, hypothyroidism and colfibrate-induced myopathy (author's transl)

A case of a pluriglandular-insufficiency syndrome (Diabetes mellitus and primary hypothyroidism) is described. The history and symptomatology of the patient is presented and prevously published references are briefly discussed. The case reported was complicated by renal insufficiency and by a "muscle-syndrome" after clofibrate therapy for hyperlipidemia--two complications, which were possibly intensified by the hypothyroid state of the patient.     

Chemical characterization of the predominant proteins secreted by mouse seminal vesicles

Eosinophilic fasciitis is a disorder characterised by induration of the skin due to chronic inflammation and fibrosis of the subcutaneous septa and muscular fascia. It is different from sclerodermia. This is a clinical entity that presents as swelling, tenderness and stiffness of the extremities associated with peripheral eosinophilia. We described a patient with this disorder with 18 month of evolution who had a bilateral carpal tunnel syndrome. Her disease appeared after steroid treatment. A review of medical literature demonstrated that similar clinical pictures are originated by different causes. Some authors propose to encompass this group of disorder under the designation of "fasciitis-panniculitis syndrome" instead of "eosinophilic fasciitis" although the well-known eosinophilic fasciitis is clearly recognized and demonstrated.     

"Opposite speech" in a schizophrenic patient.

"An unusual speech syndrome of a schizophrenic patient, in which "yes" and "no" and other opposites are reversed without awareness on the part of the patient, has been described. In discussion the reversal of a strongly established linguistic discrimination, it was pointed out that learning theorists have largely neglected the study of pathological language… . Evidence was offered to support the view that the opposite speech of the patient served primarily as a means of coping with hostile impulses." (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The use of procaine in acquired malignant hyperthermia in a patient with malignant melanoma metastatic to the parathyroid gland: a case report

The use of intravenous procaine in the treatment of hyperpyrexia in a patient with hyperparathyroidism has not been previously reported. A case of metastatic malignant melanoma precipitating the syndrome of hypertonicity of muscle, hyperpyrexia, acidemia, hypercalcemia and elevated serum parathormone levels is presented. Mithramycin was used in an attempt to reduce elevated serum calcium concentrations. The use of intravenous procaine in "caffeine rigor" and malignant hyperthermia due to succinylcholine and halothane formed the basis for its trial in this case. The relationship between cyclic AMP and calcium ions is discussed in postulating mechanism of procaine action.     

Juvenile laryngeal papillomatosis

A patient is reported who developed progressive hypothermia during therapy for adult respiratory distress syndrome. Electrocardiographic changes (sinus bradycardia, prolonged PR interval, prolonged QTc interval, "Osborn waves") were documented and correlated with body temperature. The significance of these changes is discussed and the relationship between the degree of hypothermia and the presence of "Osborn waves" is noted.     

Thyrotoxicosis and renal tubular acidosis presenting as hypokalaemic paralysis

We report a case of oesophageal disease as the first manifestation in a patient with CREST syndrome. A 46-year-old man with achalasia-like syndrome developed CREST syndrome 4 years later. A pneumatic dilatation of the cardia was performed. After pneumatic dilatation the dysphagia and regurgitation disappeared but the patient developed reflux oesophagitis. Four years after diagnosis of oesophageal disease he presented with a clinical picture of CREST syndrome. An acute ileus and constipation developed later. After receiving medical therapy with omeprazole and cisapride the patient is free of oesophageal symptoms and bowel movements are normal. Oesophageal disease is common in patients with limited and diffuse scleroderma, but to our knowledge achalasia-like syndrome has not been previously described as the first manifestation of the systemic disease.     

Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts

The growth of 20 independently derived skin fibroblastlike (FL) cell strains from three individuals with Werner syndrome (adult progeria) was compared with the growth of ten FL cell strains from normal individuals. Population growth rates and total replicative life spans of Werner syndrome strains averaged 53% and 27%, respectively, of the growth rates and life spans of non-Werner strains. In the first few passages, four Werner syndrome strains demonstrated population growth rates in the low normal range, but the longest-lived Werner syndrome strain had only 75% of the total replicative potential of the shortest-lived normal strain. Exponential growth rates, cloning efficiencies, and saturation densities of Werner strains were also reduced, whereas cell attachment was normal. Viable cells (identified by dye exclusion) were maintained in post-replicative Werner syndrome and control cultures for periods of at least 10 months; there was no evidence of accelerated post-replicative senescence of cell death of Werner syndrome FL cells. Cocultivation of Werner syndrome and normal strains did not influence population growth rates of either strain. Two proliferating hybrid clones were obtained from fusions of normal and Werner syndrome FL cell strains and these hybrids displayed the reduced growth potential typical of Werner syndrome FL cells. These studies confirm that low growth rate and sharply reduced replicative life span are characteristic of cultured skin FL cells from patients with Werner syndrome, and they suggest that these characteristics are not affected by complementation with non-Werner FL cells.     

Mechanisms by which vegetable consumption reduces genetic damage in humans

A previous intervention study had shown that consumption of carotenoid-containing vegetable juices reduces oxidative DNA damage in lymphocytes of 23 male subjects. It was the aim of this study to elucidate the potential mechanisms involved. Specifically, we studied the modulation of protein expression and determined susceptibility factors. Cryopreserved lymphocytes from the study were analyzed for genetic polymorphisms of glutathione S-transferase (GSTM1, GSTP1, and GSTT1) using multiplex PCR, GSTP1-protein with an ELISA, total protein by a colorimetric enzyme reaction, and DNA-repair enzymes with the Comet Assay. Analyses of the genotoxicity data revealed a more steady state of protection for GSTM1*+ than for GSTM1*0 (15 and 8 of 23, respectively) genotypes. Increased expression of cytosolic protein was observed in 11 of 23 subjects, increased expression of GSTP1 in 6 of 23 subjects, and capacity of repair of oxidized DNA bases in 9 of 21 subjects. GSTP1 induction was independent of the GSTP1 genotype (GSTP1a or GSTP1b/c alleles). Kinetics of induction of cytosolic protein and of GSTP1 were compared in one GSTM1*+ and one GSTM1*0 subject and showed an efficacy of tomato and carrots, but not of spinach. Reduced genetic DNA damage in lymphocytes may be due to the enhancement of cytosolic GSTP1, and DNA-repair proteins by tomato and carrot juices. Enhancement of cytosolic proteins may be indicative of increased gene expression by vegetable juices, some of which may be associated with protective activities.     

"SUNCT" syndrome. A case of transformation from trigeminal neuralgia?

A patient with typical trigeminal neuralgia involving the first branch of the nerve developed short-lasting unilateral attacks in the same area which were associated with severe vasomotor phenomena consistent with the recently described SUNCT syndrome. This evolution suggests that SUNCT might correspond, at least in this case, to a "transformed" trigeminal neuralgia and emphasizes the close relationship between these unilateral facial pain syndromes.     

Characteristics of the prolactin stimulation of c-fos mRNA levels in mouse mammary gland explants

Carcinoid tumors are relatively uncommon tumors and their presentation is varied. For these reasons, a high index of suspicion is necessary in order to consider the diagnosis. It is important to separate the "syndrome" from the primary tumor. It is obviously more effective to diagnose the tumor itself before the syndrome manifests itself, usually as a result of metastatic disease. Since the tumors are characteristically slow-growing, the physician may be misled into thinking the patient has functional problems rather than a tumor. Some data and guidelines are given for focusing on the signs and symptoms of carcinoid disease.     

The usefulness of intra-operative endoscopy in Peutz-Jeghers syndrome: a case report

The Peutz-Jeghers syndrome is an autosomal dominant inherited disease manifested by a combination of mucocutaneous pigmentation and gastrointestinal hamartomatous polyps that usually cause intussusception and intestinal hemorrhage. We report a case in which the patient has been followed-up on for 14 years and who underwent surgical and endoscopic polyp removal several times as well as one intestinal resection. This time, with the use of combined surgery and perioperative endoscopy, 27 polyps were removed, performing only 3 enterotomies. This is the highest number in one session to be reported in the literature. The usefulness of this technique is providing a "clean small intestine" that allows the patient a longer time interval between laparotomies and reduces the complications associated with multiple laparotomies and resections.     

Detection of bioradicals by in vivo ESR spectrometry

BACKGROUND AND PURPOSE: In 1964, the first case of "de novo" aneurysm has been reported by Graf and Hamby. The risk of late formation of aneurysm is unknown. Some factors could influence risk: history of hypertension, oral contraceptives, cigarette smoking. We report a rare case of "de novo" aneurysm associated with Ehlers-Danlos syndrome. RESULTS: A 35-year-old female developed a subarachnoid hemorrhage (SAH). Angiography demonstrated 4 aneurysms. Five years before, she presented a SAH. At that time, four vessels angiography demonstrated only one PICA aneurysm. A Ehlers-Danlos syndrome was suspected, which was demonstrated on skin biopsies. CONCLUSION: At our knowledge, this is the first case of "de novo" aneurysm associated with a Ehlers-Danlos syndrome.