Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

Science.gov (United States)

Goez, Helly R; Jacob, Francois D; Yager, Jerome Y

2011-02-01

Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

Plasma metabolic profiling of dairy cows affected with clinical ketosis using LC/MS technology.

Science.gov (United States)

Li, Y; Xu, C; Xia, C; Zhang, Hy; Sun, Lw; Gao, Y

2014-01-01

Ketosis in dairy cattle is an important metabolic disorder. Currently, the plasma metabolic profile of ketosis as determined using liquid chromatography-mass spectrometry (LC/MS) has not been reported. To investigate plasma metabolic profiles from cows with clinical ketosis in comparison to control cows. Twenty Holstein dairy cows were divided into two groups based on clinical signs and plasma β-hydroxybutyric acid and glucose concentrations 7-21 days postpartum: clinical ketosis and control cows. Plasma metabolic profiles were analyzed using LC/MS. Data were processed using principal component analysis and orthogonal partial least-squares discriminant analysis. Compared to control cows, the levels of valine, glycine, glycocholic, tetradecenoic acid, and palmitoleic acid increased significantly in clinical ketosis. On the other hand, the levels of arginine, aminobutyric acid, leucine/isoleucine, tryptophan, creatinine, lysine, norcotinine, and undecanoic acid decreased markedly. Our results showed that the metabolic changes in cows with clinical ketosis involve complex metabolic networks and signal transduction. These results are important for future studies elucidating the pathogenesis, diagnosis, and prevention of clinical ketosis in dairy cows.

Metabolic disruption in context: Clinical avenues for synergistic perturbations in energy homeostasis by endocrine disrupting chemicals.

Science.gov (United States)

Sargis, Robert M

2015-01-01

The global epidemic of metabolic disease is a clear and present danger to both individual and societal health. Understanding the myriad factors contributing to obesity and diabetes is essential for curbing their decades-long expansion. Emerging data implicate environmental endocrine disrupting chemicals (EDCs) in the pathogenesis of metabolic diseases such as obesity and diabetes. The phenylsulfamide fungicide and anti-fouling agent tolylfluanid (TF) was recently added to the list of EDCs promoting metabolic dysfunction. Dietary exposure to this novel metabolic disruptor promoted weight gain, increased adiposity, and glucose intolerance as well as systemic and cellular insulin resistance. Interestingly, the increase in body weight and adipose mass was not a consequence of increased food consumption; rather, it may have resulted from disruptions in diurnal patterns of energy intake, raising the possibility that EDCs may promote metabolic dysfunction through alterations in circadian rhythms. While these studies provide further evidence that EDCs may promote the development of obesity and diabetes, many questions remain regarding the clinical factors that modulate patient-specific consequences of EDC exposure, including the impact of genetics, diet, lifestyle, underlying disease, pharmacological treatments, and clinical states of fat redistribution. Currently, little is known regarding the impact of these factors on an individual's susceptibility to environmentally-mediated metabolic disruption. Advances in these areas will be critical for translating EDC science into the clinic to enable physicians to stratify an individual's risk of developing EDC-induced metabolic disease and to provide direction for treating exposed patients.

Assessment of myocardial metabolism by PET - a sophisticated dream or clinical reality

Energy Technology Data Exchange (ETDEWEB)

Schelbert, H R

1986-08-01

This symposium reviewed radionuclide techniques for the noninvasive study of regional myocardial metabolism and spanned a wide range of topics. New radiotracers for probing different metabolic pathways or selected biochemical reaction steps were presented. New information on tracers already in use was forthcoming. Because the imaging device can measure only concentrations of radiolabel in tissue, other studies examined relationships between uptake and turnover of radioactivity in tissue as an externally observed signal, the chemical fate of the label, and the biologic process under study. Other studies formulated these relationships through tracer compartment models, which are fundament to quantifying regional physiologic processes externally. Other investigations applied radiotracer methods to experimental models of cardiac disease to patients. They described findings of regional or global alterations in substrate metabolism. These observations highlighted the potential clinical value of this new methodology. At the same time, several of these observations remain at present without mechanistic explanation; yet they form the foundation on which working hypotheses can be built, which in turn can be tested in vivo.

Assessment of myocardial metabolism by PET - a sophisticated dream or clinical reality

International Nuclear Information System (INIS)

Schelbert, H.R.

1986-01-01

This symposium reviewed radionuclide techniques for the noninvasive study of regional myocardial metabolism and spanned a wide range of topics. New radiotracers for probing different metabolic pathways or selected biochemical reaction steps were presented. New information on tracers already in use was forthcoming. Because the imaging device can measure only concentrations of radiolabel in tissue, other studies examined relationships between uptake and turnover of radioactivity in tissue as an externally observed signal, the chemical fate of the label, and the biologic process under study. Other studies formulated these relationships through tracer compartment models, which are fundament to quantifying regional physiologic processes externally. Other investigations applied radiotracer methods to experimental models of cardiac disease to patients. They described findings of regional or global alterations in substrate metabolism. These observations highlighted the potential clinical value of this new methodology. At the same time, several of these observations remain at present without mechanistic explanation; yet they form the foundation on which working hypotheses can be built, which in turn can be tested in vivo. (orig.)

Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.

NARCIS (Netherlands)

Buggenhout, G.J.C.M. van; Trijbels, J.M.F.; Wevers, R.A.; Trommelen, J.C.M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

2001-01-01

In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder

To Assess the Association between Glucose Metabolism and Ectopic Lipid Content in Different Clinical Classifications of PCOS

Science.gov (United States)

Göbl, Christian S.; Ott, Johannes; Bozkurt, Latife; Feichtinger, Michael; Rehmann, Victoria; Cserjan, Anna; Heinisch, Maike; Steinbrecher, Helmut; JustKukurova, Ivica; Tuskova, Radka; Leutner, Michael; Vytiska-Binstorfer, Elisabeth; Kurz, Christine; Weghofer, Andrea; Tura, Andrea; Egarter, Christian; Kautzky-Willer, Alexandra

2016-01-01

Aims There are emerging data indicating an association between PCOS (polycystic ovary syndrome) and metabolic derangements with potential impact on its clinical presentation. This study aims to evaluate the pathophysiological processes beyond PCOS with particular focus on carbohydrate metabolism, ectopic lipids and their possible interaction. Differences between the two established classifications of the disease should be additionally evaluated. Methods A metabolic characterization was performed in 53 untreated PCOS patients as well as 20 controls including an extended oral glucose tolerance test (OGTT, to assess insulin sensitivity, secretion and ß-cell function) in addition to a detailed examination of ectopic lipid content in muscle and liver by nuclear magnetic resonance spectroscopy. Results Women with PCOS classified by the original NIH 1990 definition showed a more adverse metabolic risk profile compared to women characterized by the additional Rotterdam 2003 phenotypes. Subtle metabolic derangements were observed in both subgroups, including altered shapes of OGTT curves, impaired insulin action and hyperinsulinemia due to increased secretion and attenuated hepatic extraction. No differences were observed for ectopic lipids between the groups. However, particularly hepatocellular lipid content was significantly related to clinical parameters of PCOS like whole body insulin sensitivity, dyslipidemia and free androgen index. Conclusions Subtle alterations in carbohydrate metabolism are present in both PCOS classifications, but more profound in subjects meeting the NIH 1990 criteria. Females with PCOS and controls did not differ in ectopic lipids, however, liver fat was tightly related to hyperandrogenism and an adverse metabolic risk profile. PMID:27505055

Clinical Research Strategies for Fructose Metabolism12

Science.gov (United States)

Laughlin, Maren R.; Bantle, John P.; Havel, Peter J.; Parks, Elizabeth; Klurfeld, David M.; Teff, Karen; Maruvada, Padma

2014-01-01

Fructose and simple sugars are a substantial part of the western diet, and their influence on human health remains controversial. Clinical studies in fructose nutrition have proven very difficult to conduct and interpret. NIH and USDA sponsored a workshop on 13–14 November 2012, “Research Strategies for Fructose Metabolism,” to identify important scientific questions and parameters to be considered while designing clinical studies. Research is needed to ascertain whether there is an obesogenic role for fructose-containing sugars via effects on eating behavior and energy balance and whether there is a dose threshold beyond which these sugars promote progression toward diabetes and liver and cardiovascular disease, especially in susceptible populations. Studies tend to fall into 2 categories, and design criteria for each are described. Mechanistic studies are meant to validate observations made in animals or to elucidate the pathways of fructose metabolism in humans. These highly controlled studies often compare the pure monosaccharides glucose and fructose. Other studies are focused on clinically significant disease outcomes or health behaviors attributable to amounts of fructose-containing sugars typically found in the American diet. These are designed to test hypotheses generated from short-term mechanistic or epidemiologic studies and provide data for health policy. Discussion brought out the opinion that, although many mechanistic questions concerning the metabolism of monosaccharide sugars in humans remain to be addressed experimentally in small highly controlled studies, health outcomes research meant to inform health policy should use large, long-term studies using combinations of sugars found in the typical American diet rather than pure fructose or glucose. PMID:24829471

Basal (18)F-FDG PET/CT in follicular lymphoma: A comparison of metabolic and clinical variables in the prognostic assessment.

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Jiménez Londoño, G A; García Vicente, A M; Poblete García, V M; Amo-Salas, M; Calle Primo, C; Ibañez García, Á; Martínez Sanchís, B; López-Fidalgo, J F; Solano Ramos, F; Martínez Hellín, A; Díaz Morfa, M; Soriano Castrejón, Á

2016-01-01

To analyze the relationship of clinical variables related to prognosis and tumor burden, with metabolic variables obtained in the staging (18)F-FDG PET/CT, and their value in the prognosis in follicular lymphoma (FL). 82 patients with FL, a (18)F-FDG PET/CT at diagnosis and a follow-up for a minimum of 12 months, were retrospectively enrolled in the present study. Clinical variables (Tumor grade, Follicular Lymphoma International Prognostic Index (FLIPI) and Tumor burden) were evaluated. Metabolic variables such as SUVmax in the highest hypermetabolic lesion, extralymphatic locations, number of involved lymph node locations, bone marrow (BM) involvement, PET stage and diameter of the biggest hypermetabolic lesion, were analyzed in order to establish a PET score and classify the studies in low, intermediate and high metabolic risk. Clinical and metabolic variables (included metabolic risk) were compared. The relation among all variables and disease-free survival (DFS) was studied. The 28% of patients had a high-grade tumor. The 30.5% had FLIPI risk low, 29.3% intermediate y 40.2% high. The 42.7% presented a high tumor burden. The PET/CT was positive in 94% of patients. The tumor grade did not show significant relation with metabolic variable. FLIPI risk and tumor burden showed statistical relations with the SUV max and the PET score (p<0.008 and p=0.003 respectively). With respect to DFS, significant differences were detected for the PET stage and FLIPI risk (p=0.015 and p=0.047 respectively). FLIPI risk was the only significant predictor in Cox regression analysis, with a Hazard Ratio of 5.13 between high risk and low risk. The present research highlights the significant relation between metabolic variables obtained with FDG PET/CT and clinical variables although their goal as an independent factor of prognosis was not demonstrated in the present work. Copyright © 2016 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

Clinical presentation and biochemical findings children with glycogen storage disease type 1A

International Nuclear Information System (INIS)

Saeed, A.; Suleman, H.; Arshad, H.

2015-01-01

To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease (GSD) type 1a in children at a tertiary referral centre. Study Design: Descriptive/ cross sectional study. Place and Duration of Study: Department of Pediatric, division of Gastroenterology and Hepatology of the Children's hospital, Lahore over a period of 11 years. Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia (if present). Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study. Results: Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months (age range from one month to 18 years). Most common presentation was abdominal distension (83%) followed by failure to thrive (69%) and recurrent wheezing and diarrhoea (44%) each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children

Metabolic Modulators in Heart Disease: Past, Present, and Future.

Science.gov (United States)

Lopaschuk, Gary D

2017-07-01

Ischemic heart disease and heart failure are leading causes of mortality and morbidity worldwide. They continue to be major burden on health care systems throughout the world, despite major advances made over the past 40 years in developing new therapeutic approaches to treat these debilitating diseases. A potential therapeutic approach that has been underutilized in treating ischemic heart disease and heart failure is "metabolic modulation." Major alterations in myocardial energy substrate metabolism occur in ischemic heart disease and heart failure, and are associated with an energy deficit in the heart. A metabolic shift from mitochondrial oxidative metabolism to glycolysis, as well as an uncoupling between glycolysis and glucose oxidation, plays a crucial role in the development of cardiac inefficiency (oxygen consumed per work performed) and functional impairment in ischemic heart disease as well as in heart failure. This has led to the concept that optimizing energy substrate use with metabolic modulators can be a potentially promising approach to decrease the severity of ischemic heart disease and heart failure, primarily by improving cardiac efficiency. Two approaches for metabolic modulator therapy are to stimulate myocardial glucose oxidation and/or inhibit fatty acid oxidation. In this review, the past, present, and future of metabolic modulators as an approach to optimizing myocardial energy substrate metabolism and treating ischemic heart disease and heart failure are discussed. This includes a discussion of pharmacological interventions that target enzymes involved in fatty acid uptake, fatty acid oxidation, and glucose oxidation in the heart, as well as enzymes involved in ketone and branched chain amino acid catabolism in the heart. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Development of the Clinic of Endocrinology, diabetes and metabolic disorders.

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Shubeska Stratrova, S

2013-01-01

The Clinic of Endocrinology, diabetes and metabolic disorders was founded in 1975 by Prof d-r Alexandar Plashevski. Healthcare, educational and scientific activities in the Clinic of Endocrinology are performed in its departments. The Department for hospitalized diabetic and endocrine patients consists of the metabolic and endocrine intensive care unit, the department for diagnosis and treatment of diabetics and endocrine patients, day hospital, the department for education of diabetic patients, and the national center for insulin pump therapy. The Center for Diabetes was established in 1972 by Prof d-r Dimitar Arsov. In 1975, Prof d-r Alexandar Plasheski broadened the activities of the Center for Diabetes. It was dislocated in 1980, with new accommodation outside the clinic. Since then the Center has consisted of several organized units: two specialist outpatient clinics for diabetic patients, biochemical and endocrine laboratory, sub-departments for: diabetic foot, cardiovascular diagnosis, ophthalmology, and urgent interventions. The Department of Endocrinology and Metabolic Disorders for outclinic endocrine patients was established in 1980, and it integrates the following sub-departments: thyrology, andrology, reproductive endocrinology, obesity and lipid disorders and sub-department for osteoporosis. The educational staff of the Clinic of Endocrinology organizes theoretical and practical education about Clinical Investigation and Internal Medicine with credit transfer system course of study of the Medical Faculty, Faculty of Stomatology, postgraduate studies, specializations and sub-specializations. Symposiums, 3 congresses, schools for diabetes and osteoporosis and continuous medical education were also organized. The Clinic of Endocrinology was initiator, organizer, founder and the seat of several medical associations.

Aerobic-Strength Exercise Improves Metabolism and Clinical State in Parkinson’s Disease Patients

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Patrik Krumpolec

2017-12-01

Full Text Available Regular exercise ameliorates motor symptoms in Parkinson’s disease (PD. Here, we aimed to provide evidence that exercise brings additional benefits to the whole-body metabolism and skeletal muscle molecular and functional characteristics, which might help to explain exercise-induced improvements in the clinical state. 3-months supervised endurance/strength training was performed in early/mid-stage PD patients and age/gender-matched individuals (n = 11/11. The effects of exercise on resting energy expenditure (REE, glucose metabolism, adiposity, and muscle energy metabolism (31P-MRS were evaluated and compared to non-exercising PD patients. Two muscle biopsies were taken to determine intervention-induced changes in fiber type, mitochondrial content, and expression of genes related to muscle energy metabolism, as well as proliferative and regenerative capacity. Exercise improved the clinical disability score (MDS-UPDRS, bradykinesia, balance, walking speed, REE, and glucose metabolism and increased muscle expression of energy sensors (AMPK. However, the exercise-induced increase in muscle mass/strength, mitochondrial content, type II fiber size, and postexercise phosphocreatine (PCr recovery (31P-MRS were found only in controls. Nevertheless, MDS-UPDRS was associated with muscle AMPK and mechano-growth factor (MGF expression. Improvements in fasting glycemia were positively associated with muscle function and the expression of Sirt1 and Cox7a1, and the parameters of fitness/strength were positively associated with the expression of MyHC2, MyHC7, and MGF. Moreover, reduced bradykinesia was associated with better muscle metabolism (maximal oxidative capacity and postexercise PCr recovery; 31P-MRS. Exercise training improved the clinical state in early/mid-stage Parkinson’s disease patients, including motor functions and whole-body metabolism. Although the adaptive response to exercise in PD was different from that of controls, exercise

Metabolic Polymorphisms and Clinical Findings Related to Benzene Poisoning Detected in Exposed Brazilian Gas-Station Workers

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Simone Mitri

2015-07-01

Full Text Available Benzene is a ubiquitous environmental pollutant and an important industrial chemical present in both gasoline and motor vehicle emissions. Occupational human exposure to benzene occurs in the petrochemical and petroleum refining industries as well as in gas-station workers, where it can lead to benzene poisoning (BP, but the mechanisms of BP are not completely understood. In Brazil, a significant number of gas-station service workers are employed. The aim of the present study was to evaluate alterations related to BP and metabolic polymorphisms in gas-station service workers exposed to benzene in the city of Rio de Janeiro, Brazil. Occupational exposure was based on clinical findings related to BP, and metabolic polymorphisms in 114 Brazilian gas-station attendants. These workers were divided into No Clinical Findings (NCF and Clinical Findings (CF groups. Neutrophil and Mean Corpuscular Volume (MCV showed a significant difference between the two study groups, and neutrophil has the greatest impact on the alterations suggestive of BP. The clinical findings revealed higher frequencies of symptoms in the CF group, although not all members presented statistical significance. The frequencies of alleles related to risk were higher in the CF group for GSTM1, GSTT1, CYP2E1 7632T > A, but lower for NQO1 and CYP2E1 1053C > T genotypes. Moreover, an association was found between GSTM1 null and alterations related to BP, but we did not observe any effects of other polymorphisms. Variations in benzene metabolizing genes may modify benzene toxicity and should be taken into consideration during risk assessment evaluations.

Pharmacogenomic and clinical data link non-pharmacokinetic metabolic dysregulation to drug side effect pathogenesis

DEFF Research Database (Denmark)

Zielinski, Daniel C.; Filipp, F. V.; Bordbar, A.

2015-01-01

Drug side effects cause a significant clinical and economic burden. However, mechanisms of drug action underlying side effect pathogenesis remain largely unknown. Here, we integrate pharmacogenomic and clinical data with a human metabolic network and find that non-pharmacokinetic metabolic pathways...

Presentations and complications of diabetes patients presenting to diabetic clinic of Eastern Nepal

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Nabin Kumar Singh

2014-04-01

Full Text Available Objective Diabetes mellitus leads to damage, dysfunction and failure of various organs especially eyes, kidneys, nerves and heart. The latency of occurence of hyperglycemia and diagnosis may be of long duration. This study was aimed to find out the mode of presetation of diabetes mellitus in diabetic patients attending out patients clinic of B P Koirala Institute of Health Sciences. Associated complications and comorbid condition present at the time of presenation were also studied. Methods The diabetic patients attending the Diabetic Out Patient Clinic of B P Koirala Institute of Health Sciences during June 2006 to June 2007 were included in this study.The patients details were collected from the predefined Proforma for diabetes patient from the database. This included demographic data, biochemical parameters and diabetic complications. For the purpose of study a total of 775 patients were randomly selected.The Data collected were entered and analysed using excel and SPSS(version 11.5 Results Out of 775 cases 436 (56.3% were male and 339(43.7% were female. Majority of patients 81.55% (n=632 had osmotic sympmtoms or symptoms related to complication of diabetes at the time of presentation to the clinic. Asymptomatic patient constituted 18.45% (n=143. The most common presenting complaints were polyuria (44.58%, followed by polydypsia (39.62% and polyphagia (24.88%. About 54.97% (n=426 had symptoms of complications related to diabetes. Among them most common complication was neurological (39.67%, followed by renal (10.8% metabolic (4.93%, cardiac(4.46%, autonomic neuropathy (4.93% and peripheral vascular disease (3.99%. Conclusion Majority of the patients presenting in our OPD had osmotic symptoms or symptoms related to complication of diabetes. Access to diabetes care and lack of awareness of the disease and its complication might had contributed to this. Community awareness, program for early detection and managemnet may help proper diabetes care

PSORIATIC ARTHRITIS: CLASSIFICATION, CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT

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T. V. Korotaeva

2014-01-01

Full Text Available The lecture gives basic information about psoriatic arthritis (PsA, a chronic inflammatory disease of the joints, spine, and enthesises from a group of spondyloarthritis. It describes the epidemiology of the disease and considers current ideas on its pathogenesis and factors influencing the development of PsA in psoriatic patients. The classification and clinical forms of PsA are presented. The major clinical manifestations of the disease are indicated to include peripheral arthritis, enthesitis, dactylitis, and spondylitis. The diagnosis of the disease is noted to be established on the basis of its detected typical clinical and radiological signs, by applying the CASPAR criteria. A dermatologist, rheumatologist, and general practitioner screen PsA, by actively detecting complaints, characteristic clinical and radiological signs of damage to the joints, and/or spine, and/or enthesises and by using screening questionnaires. There are data that patients with PsA are observed to be at higher risk for a number of diseases type 2 diabetes mellitus hypertension, coronary heart disease, obesity, metabolic syndrome, inflammatory bowel diseases, etc. The aim of current pharmacotherapy for PsA is to achieve remission or minimal activity of clinical manifestations of the disease, to delay or prevent its X-ray progression, to increase survival, to improve quality of life in patients, and to reduce the risk of comorbidities. The paper considers groups of medicines used to treat the disease, among other issues, information about biological agents (BA registered in the Russian Federation for the treatment of PsA. Most patients are mentioned to show a good response to this therapy option just 3–6 months after treatment initiation; however, some of them develop primary inefficiency. In this case, switching one BA to another is recommended. Some patients using a BA develop secondary treatment inefficiency, which is firstly due to the appearance of

Metabolic syndrome and its characteristics among obese patients attending an obesity clinic.

Science.gov (United States)

Termizy, H M; Mafauzy, M

2009-04-01

The increased prevalence of metabolic syndrome worldwide is closely related to the rising obesity epidemic. The objectives of the study were to determine the prevalence and identify the associated and prognostic factors that influence the risk of metabolic syndrome among obese patients attending the Obesity Clinic at Hospital Universiti Sains Malaysia. A study was conducted involving 102 obese persons who attended the Obesity Clinic from January 1 to December 31, 2005. Metabolic syndrome was defined according to the International Diabetes Federation criteria. The overall prevalence of metabolic syndrome among obese patients was 40.2 percent. The prevalence was higher in females (43.7 percent) than in males (32.3 percent). The prevalence of metabolic syndrome was noted to increase with increasing body mass index class, from class 1 to class 2. However, the prevalence was lower in obesity class 3. The prevalence of metabolic comorbidities of raised blood pressure, reduced high density lipoprotein, high triglyceride and raised fasting blood glucose was 42, 40, 36 and 17 percent, respectively. A quarter of obese patients in this study had no other comorbidity. Based on logistic regression multivariable analysis, age was the only significant associated factor that influenced the risk of having metabolic syndrome. The prevalence of metabolic syndrome was high and the highest comorbidity was high blood pressure. Age was the only significant risk factor of having this syndrome.

Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

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Gustavo A.Rosa Maciel

2014-03-01

Full Text Available OBJECTIVES: We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1 polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome. METHOD: Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests. RESULTS: Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects. CONCLUSION: The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.

Hypercholermic metabolic alcalsosis as a presentation of cystic fibrosis: presentation of two cases = Alcalosis metabólica hipoclorémica como presentación de la fibrosis quística. Informe de dos casos

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Olga Lucía Morales Múnera

2013-07-01

Full Text Available Introduction: We describe two cases of patients with hyperchloremic metabolic acidosis as an initial presentation of cystic fibrosis (CF or as part of a second CF exacerbation. Clinical Cases: Two patients, 6 and 9 months old, consulted for cough, fever, and dyspnea. The first had syndrome of recurrent bronchial obstruction, without a diagnosis of CF on admission. Both presented with difficulty breathing, dehydration, and malnutrition. Arterial blood gases showed metabolic acidosis, hypokalemia, and severe hypochloremia. Treatment with sodium chloride and potassium improved their electrolyte balance and acid-base status. They did not present with renal or gastrointestinal losses of chloride. CF and pseudo-Barter’s Syndrome were diagnosed. Conclusion: Metabolic alkalosis can present as an initial manifestation of CF in infants with recurrent bronchiolitis and short stature suspected of having CF: equally it can be an acute exacerbation in patients with known CF. Your recognition and treatment are an opportunity to decrease morbidity.

Nocardial mycetoma: Diverse clinical presentations

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Sharma Nand

2008-01-01

Full Text Available Nocardia spp are gram-positive, aerobic, acid-fast bacteria which exist as saprophytes in nature. Invasive disseminated infections are particularly common in immunocompromised or debilitated hosts. Superficial infections with Nocardia spp occur as a result of local trauma and contamination of the wound. Clinically, it presents as acute infection (abscesses or cellulitis, mycetoma, or sporotrichoid infection. Differential diagnosis includes eumycetoma, chromomycosis, blastomycosis, coccidioidomycosis, sporotrichosis, tuberculosis, botryomycosis, syphilis, yaws, and neoplasia. Its diagnosis is confirmed by demonstrating the causative organism in exudates (as granules, tissue specimens, or cultures. Early diagnosis will obviate need for drastic surgical measures as early institution of chemotherapy is effective in most patients. However, its diagnosis is often delayed due to diverse clinical presentations and for want of clinical suspicion, particularly in non-endemic areas. This paper presents 4 clinical forms of this not so uncommon disease, emphasizing the importance of high index of clinical suspicion, especially in non-endemic regions; and the significance of repeated examination of exudates for Nocardia granules for an early diagnosis.

The metabolic syndrome: validity and utility of clinical definitions for cardiovascular disease and diabetes risk prediction.

Science.gov (United States)

Cameron, Adrian

2010-02-01

The purpose of clinical definitions of the metabolic syndrome is frequently misunderstood. While the metabolic syndrome as a physiological process describes a clustering of numerous age-related metabolic abnormalities that together increase the risk for cardiovascular disease and type 2 diabetes, clinical definitions include obesity which is thought to be a cause rather than a consequence of metabolic disturbance, and several elements that are routinely measured in clinical practice, including high blood pressure, high blood glucose and dyslipidaemia. Obesity is frequently a central player in the development of the metabolic syndrome and should be considered a key component of clinical definitions. Previous clinical definitions have differed in the priority given to obesity. Perhaps more importantly than its role in a clinical definition, however, is obesity in isolation before the hallmarks of metabolic dysfunction that typify the syndrome have developed. This should be treated seriously as an opportunity to prevent the consequences of the global diabetes epidemic now apparent. Clinical definitions were designed to identify a population at high lifetime CVD and type 2 diabetes risk, but in the absence of several major risk factors for each condition, are not optimal risk prediction devices for either. Despite this, the metabolic syndrome has several properties that make it a useful construct, in conjunction with short-term risk prediction algorithms and sound clinical judgement, for the identification of those at high lifetime risk of CVD and diabetes. A recently published consensus definition provides some much needed clarity about what a clinical definition entails. Even this, however, remains a work in progress until more evidence becomes available, particularly in the area of ethnicity-specific waist cut-points. Copyright 2009 Elsevier Ireland Ltd. All rights reserved.

Severe metabolic alkalosis due to pyloric obstruction: case presentation, evaluation, and management.

Science.gov (United States)

McCauley, Meredith; Gunawardane, Manjula; Cowan, Mark J

2006-12-01

A 46-year-old man presented to the emergency room with severe metabolic alkalosis, hypokalemia, and respiratory failure requiring intubation and mechanical ventilation. The cause of his acid-base disorder was initially unclear. Although alkalosis is common in the intensive care unit, metabolic alkalosis of this severity is unusual, carries a very high mortality rate, and requires careful attention to the pathophysiology and differential diagnosis to effectively evaluate and treat the patient. A central concept in the diagnosis of metabolic alkalosis is distinguishing chloride responsive and chloride nonresponsive states. Further studies are then guided by the history and physical examination in most cases. By using a systematic approach to the differential diagnosis, we were able to determine that a high-grade gastric outlet obstruction was the cause of the patients' alkalosis and to offer effective therapy for his condition. A literature review and algorithm for the diagnosis and management of metabolic alkalosis are also presented.

Analysis of Cancer Metabolism by Imaging Hyperpolarized Nuclei: Prospects for Translation to Clinical Research

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John Kurhanewicz

2011-02-01

Full Text Available A major challenge in cancer biology is to monitor and understand cancer metabolism in vivo with the goal of improved diagnosis and perhaps therapy. Because of the complexity of biochemical pathways, tracer methods are required for detecting specific enzyme-catalyzed reactions. Stable isotopes such as 13C or 15N with detection by nuclear magnetic resonance provide the necessary information about tissue biochemistry, but the crucial metabolites are present in low concentration and therefore are beyond the detection threshold of traditional magnetic resonance methods. A solution is to improve sensitivity by a factor of 10,000 or more by temporarily redistributing the populations of nuclear spins in a magnetic field, a process termed hyperpolarization. Although this effect is short-lived, hyperpolarized molecules can be generated in an aqueous solution and infused in vivo where metabolism generates products that can be imaged. This discovery lifts the primary constraint on magnetic resonance imaging for monitoring metabolism—poor sensitivity—while preserving the advantage of biochemical information. The purpose of this report was to briefly summarize the known abnormalities in cancer metabolism, the value and limitations of current imaging methods for metabolism, and the principles of hyperpolarization. Recent preclinical applications are described. Hyperpolarization technology is still in its infancy, and current polarizer equipment and methods are suboptimal. Nevertheless, there are no fundamental barriers to rapid translation of this exciting technology to clinical research and perhaps clinical care.

Cardiovascular and Metabolic Heterogeneity of Obesity: Clinical Challenges and Implications for Management.

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Neeland, Ian J; Poirier, Paul; Després, Jean-Pierre

2018-03-27

The prevalence of obesity has increased globally over the last 2 decades. Although the body mass index has been a convenient and simple index of obesity at the population level, studies have shown that obesity defined by body mass index alone is a remarkably heterogeneous condition with varying cardiovascular and metabolic manifestations across individuals. Adipose tissue is an exquisitely active metabolic organ engaged in cross-talk between various systems; perturbation of adipose tissue results in a pathological response to positive caloric balance in susceptible individuals that directly and indirectly contributes to cardiovascular and metabolic disease. Inadequate subcutaneous adipose tissue expansion in the face of dietary triglycerides leads to visceral and ectopic fat deposition, inflammatory/adipokine dysregulation, and insulin resistance. Conversely, preferential fat storage in the lower body depot may act as a metabolic buffer and protect other tissues from lipotoxicity caused by lipid overflow and ectopic fat. Translational, epidemiological, and clinical studies over the past 30 years have clearly demonstrated a strong link between visceral and ectopic fat and the development of a clinical syndrome characterized by atherogenic dyslipidemia, hyperinsulinemia/glucose intolerance, hypertension, atherosclerosis, and adverse cardiac remodeling/heart failure. This relationship is even more nuanced when clinical entities such as metabolically healthy obesity phenotype and the obesity paradox are considered. Although it is clear that the accumulation of visceral/ectopic fat is a major contributor to cardiovascular and metabolic risk above and beyond the body mass index, implementation of fat distribution assessment into clinical practice remains a challenge. Anthropometric indexes of obesity are easily implemented, but newer imaging-based methods offer improved sensitivity and specificity for measuring specific depots. Lifestyle, pharmacological, and surgical

Spectrum Of Inherited Metabolic Disorders In Pakistani Children Presenting At A Tertiary Care Centre

International Nuclear Information System (INIS)

Cheema, H. A.; Malik, H. S.; Parkash, A.; Fayyaz, Z.

2016-01-01

Objective: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. Study Design: An observational study. Place and Duration of Study: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. Methodology: All children aged < 14 years with high suspicion of a metabolic disorder were inducted. Routine and radiological investigation were carried out at the study place. Comprehensive diagnostic testing of particular metabolic disorder was sent abroad. Those with a specific metabolic disorder were included in the study while those with normal metabolic work-up were excluded. All data was collected on preformed proforma. Result: A total of 239 patients were enrolled. Nineteen different types of inherited metabolic disorders were diagnosed in 180 patients; age ranged from 8 days to 14 years. Consanguinity was positive in 175 (97 percentage) among the parents of the affected children, with previously affected siblings in 64 (35.5 percentage). The most frequent disorders were inherited disorders of carbohydrate metabolism (92, 51 percentage), lipid storage disease (59, 32.7 percentage), organic acidemia and energy defects (18, 10 percentage), amino acid disorder (6, 3.3 percentage), and miscellaneous (4, 2.2 percentage). Fifty-eight (32.2 percentage) presented with acute metabolic crisis, 28 (15.5 percentage) patients presented with early onset liver failure, and 24 (13.3 percentage) with mental retardation. Out of these, 16 (8.8 percentage) expired. Conclusion: Glycogen storage disorders being the commonest followed by Gaucher disease and Galactosemia. The associated complications resulted in high morbidity and mortality. (author)

Alterations of energy metabolism and glutathione levels of HL-60 cells induced by methacrylates present in composite resins.

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Nocca, G; De Palma, F; Minucci, A; De Sole, P; Martorana, G E; Callà, C; Morlacchi, C; Gozzo, M L; Gambarini, G; Chimenti, C; Giardina, B; Lupi, A

2007-03-01

Methacrylic compounds such as 2-hydroxyethyl methacrylate (HEMA), triethylene glycol dimethacrylate (TEGDMA) and bisphenol A glycerolate (1 glycerol/phenol) dimethacrylate (Bis-GMA) are largely present in auto- or photopolymerizable composite resins. Since the polymerization reaction is never complete, these molecules are released into the oral cavity tissues and biological fluids where they could cause local adverse effects. The aim of this work was to verify the hypothesis that the biological effects of HEMA, TEGDMA and Bis-GMA - at a non-cytotoxic concentration - depend on the interaction with mitochondria and exert consequent alterations of energy metabolism, GSH levels and the related pathways in human promyelocytic cell line (HL-60). The biological effects of methacrylic monomers were determined by analyzing the following parameters: GSH concentration, glucose-6-phosphate dehydrogenase (G6PDH) and glutathione reductase (GR) activity, oxygen and glucose consumption and lactate production along with cell differentiation and proliferation. All monomers induced both cellular differentiation and decrease in oxygen consumption. Cells treated with TEGDMA and Bis-GMA showed a significant enhancement of glucose consumption and lactate production. TEGDMA and HEMA induced GSH depletion stimulating G6PDH and GR activity. All the monomers under study affect the metabolism of HL-60 cells and show differentiating activity. Since alterations in cellular metabolism occurred at compound concentrations well below cytotoxic levels, the changes in energy metabolism and glutathione redox balance could be considered as potential mechanisms for inducing clinical and sub-clinical adverse effects and thus providing useful parameters when testing biocompatibility of dental materials.

Clinical and metabolic characteristics of Turkish adolescents with polycystic ovary syndrome.

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Ates, Seda; Aydın, Serdar; Ozcan, Pinar; Soyman, Zeynep; Gokmen Karasu, Ayse Filiz; Sevket, Osman

2018-02-01

The aim of this study was to investigate the clinical, endocrine, metabolic features and prevalence of metabolic syndrome (MBS) in Turkish adolescents with polycystic ovary syndrome (PCOS) and the differences in metabolic parameters between adolescent PCOS with or without the presence of polycystic ovaries (PCO) on ultrasound. Subjects (n = 77) were classified into two groups: oligomenorrhea (O) and clinical and/or biochemical hyperandrogenism (HA) (n = 38), without PCO and O + HA with PCO (n = 39). The control group consisted of 33 age-matched adolescents. Adolescents with PCOS had a significantly higher body mass index (BMI), waist circumference and levels of LH, LH/FSH ratio, triglyceride, insulin, HOMA-IR, free androgen index and lower levels of SHBG and FSH. After adjustment for BMI, LH, LH: FSH ratio remained significantly higher. Adolescents with PCOS had a higher prevalence of MBS. No significant differences in lipid profiles, insulin levels and insulin sensitivity in both the PCOS groups were seen. HDL-C levels were lower in the O + HA + PCO group compared to the controls. BMI may be the major contributing factor in the development of metabolic abnormalities in adolescents with PCOS. Impact statement Many studies have investigated the effect of PCOS on metabolic and cardiovascular risks. It is thought that PCOS increases metabolic and cardiovascular risks. Increase in metabolic and cardiovascular risks associated with PCOS may be handled with early diagnosis and early intervention of PCOS in adolescents, although the diagnosis of PCOS in adolescents could be hard because of the features of PCOS overlapping normal pubertal physiological events. However, early identification of adolescent girls with PCOS may provide opportunities for prevention of well-known health risks associated with this syndrome and reduction of long-term health consequences of PCOS by reducing androgen levels and improving metabolic profile. Our results also

"Metabolic staging" after major trauma - a guide for clinical decision making?

Directory of Open Access Journals (Sweden)

Moore Ernest E

2010-06-01

Full Text Available Abstract Metabolic changes after major trauma have a complex underlying pathophysiology. The early posttraumatic stress response is associated with a state of hyperinflammation, with increased oxygen consumption and energy expenditure. This hypercatabolic state must be recognized early and mandates an early nutritional management strategy. A proactive concept of early enteral "immunonutrition" in severely injured patients, is aimed at counterbalancing the negative aspects of hyperinflammation and hypercatabolism in order to reduce the risk of late complications, including infections and posttraumatic organ failure. Recently, the concept of "metabolic staging" has been advocated, which takes into account the distinct inflammatory phases and metabolic phenotypes after major trauma, including the "ischemia/reperfusion phenotype", the "leukocytic phenotype", and the "angiogenic phenotype". The potential clinical impact of metabolic staging, and of an appropriately adapted "metabolic control" and nutritional support, remains to be determined.

Clinical presentation of thyroid cancer

International Nuclear Information System (INIS)

Samuel, A.M.; Shah, D.H.

1999-01-01

The clinical manifestation of thyroid cancer (TC) as seen at the Nuclear Medicine Department, where the patients investigated prior to diagnosis of disease are clinically suspected to harbor malignancy and mostly referred for scintigraphic investigations are presented

Clinical presentation of familial exudative vitreoretinopathy.

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Ranchod, Tushar M; Ho, Lawrence Y; Drenser, Kimberly A; Capone, Antonio; Trese, Michael T

2011-10-01

To describe the clinical characteristics, staging and presentation of patients with familial exudative vitreoretinopathy (FEVR) in our clinical practice over the last 25 years. Case series, retrospective review. We included 273 eyes of 145 patients. Data collected from charts included gender, gestational age at birth, birthweight, age at presentation, referring diagnosis, family history, prior ocular surgery, and clinical presentation in each eye. Eyes with invasive posterior segment procedures before initial presentation were excluded. Demographics on presentation and clinical staging. Patients were slightly male predominant (57%) with a mean birthweight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42), and mean age at presentation of almost 6 years (range, presentation, gestational age, and birthweight. Although a positive family history on presentation may support the diagnosis of FEVR, a negative family history is of little help. The majority of retinal folds extended radially in the temporal quadrants, but radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. The presentation of FEVR may mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR. The authors have no proprietary or commercial interest in any of the materials discussed in this article. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Fecal microbiota transplantation in metabolic syndrome: History, present and future.

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de Groot, P F; Frissen, M N; de Clercq, N C; Nieuwdorp, M

2017-05-04

The history of fecal microbiota transplantation (FMT) dates back even to ancient China. Recently, scientific studies have been looking into FMT as a promising treatment of various diseases, while in the process teaching us about the interaction between the human host and its resident microbial communities. Current research focuses mainly on Clostridium difficile infections, however interest is rising in other areas such as inflammatory bowel disease (IBD) and the metabolic syndrome. With regard to the latter, the intestinal microbiota might be causally related to the progression of insulin resistance and diabetes. FMT in metabolic syndrome has proven to be an intriguing method to study the role of the gut microbiota and open the way to new therapies by dissecting in whom insulin resistance is driven by microbiota. In this article we review the history of FMT, the present evidence on its role in the pathophysiology of metabolic syndrome and its efficacy, limitations and future prospects.

Clinical relevance of the bile acid receptor TGR5 in metabolism

DEFF Research Database (Denmark)

van Nierop, F Samuel; Scheltema, Matthijs J; Eggink, Hannah M

2017-01-01

The bile acid receptor TGR5 (also known as GPBAR1) is a promising target for the development of pharmacological interventions in metabolic diseases, including type 2 diabetes, obesity, and non-alcoholic steatohepatitis. TGR5 is expressed in many metabolically active tissues, but complex enterohep......The bile acid receptor TGR5 (also known as GPBAR1) is a promising target for the development of pharmacological interventions in metabolic diseases, including type 2 diabetes, obesity, and non-alcoholic steatohepatitis. TGR5 is expressed in many metabolically active tissues, but complex...... enterohepatic bile acid cycling limits the exposure of some of these tissues to the receptor ligand. Profound interspecies differences in the biology of bile acids and their receptors in different cells and tissues exist. Data from preclinical studies show promising effects of targeting TGR5 on outcomes...... such as weight loss, glucose metabolism, energy expenditure, and suppression of inflammation. However, clinical studies are scarce. We give a summary of key concepts in bile acid metabolism; outline different downstream effects of TGR5 activation; and review available data on TGR5 activation, with a focus...

A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism.

Science.gov (United States)

Jacob, Minnie; Malkawi, Abeer; Albast, Nour; Al Bougha, Salam; Lopata, Andreas; Dasouki, Majed; Abdel Rahman, Anas M

2018-09-26

Metabolome, the ultimate functional product of the genome, can be studied through identification and quantification of small molecules. The global metabolome influences the individual phenotype through clinical and environmental interventions. Metabolomics has become an integral part of clinical research and allowed for another dimension of better understanding of disease pathophysiology and mechanism. More than 95% of the clinical biochemistry laboratory routine workload is based on small molecular identification, which can potentially be analyzed through metabolomics. However, multiple challenges in clinical metabolomics impact the entire workflow and data quality, thus the biological interpretation needs to be standardized for a reproducible outcome. Herein, we introduce the establishment of a comprehensive targeted metabolomics method for a panel of 220 clinically relevant metabolites using Liquid chromatography-tandem mass spectrometry (LC-MS/MS) standardized for clinical research. The sensitivity, reproducibility and molecular stability of each targeted metabolite (amino acids, organic acids, acylcarnitines, sugars, bile acids, neurotransmitters, polyamines, and hormones) were assessed under multiple experimental conditions. The metabolic tissue distribution was determined in various rat organs. Furthermore, the method was validated in dry blood spot (DBS) samples collected from patients known to have various inborn errors of metabolism (IEMs). Using this approach, our panel appears to be sensitive and robust as it demonstrated differential and unique metabolic profiles in various rat tissues. Also, as a prospective screening method, this panel of diverse metabolites has the ability to identify patients with a wide range of IEMs who otherwise may need multiple, time-consuming and expensive biochemical assays causing a delay in clinical management. Copyright © 2018 Elsevier B.V. All rights reserved.

Topiramate augmentation in clozapine-treated patients with schizophrenia: clinical and metabolic effects.

Science.gov (United States)

Hahn, Margaret K; Remington, Gary; Bois, Daniel; Cohn, Tony

2010-12-01

Clozapine represents the treatment of choice for refractory psychosis, although a significant number of individuals demonstrate suboptimal response to it as well, leading to clozapine augmentation strategies. A variety of agents have been investigated in this regard, including mood stabilizers, such as anticonvulsants. Within this group of medications, topiramate is unique in that it is associated with weight loss, making it an attractive option because of clozapine's notable risk for associated metabolic disturbance. A 12-week naturalistic, open study was carried out to examine the potential benefits of topiramate in clozapine-treated individuals with schizophrenia demonstrating a suboptimal clinical response. We were specifically interested in clinical symptoms, changes in metabolic parameters, and tolerability. A total of 20 subjects were enrolled, and 16 completed the study, including 5 individuals with type 2 diabetes. Topiramate augmentation led to a 14% improvement in total Brief Psychiatric Rating Scale scores (P = 0.0003), a 2.5% decrease in body weight (P = 0.015), and was generally well tolerated, paraesthesia being the most common side effect. These findings support topiramate as a viable augmentation strategy in clozapine partial responders, with evidence of both clinical and metabolic benefits.

Clinical significance of reduced cerebral metabolism in multiple sclerosis. A combined PET and MRI study

International Nuclear Information System (INIS)

Sun, Xiayan; Tanaka, Makoto; Kondo, Susumu; Okamoto, Koichi; Hirai, Shunsaku

1998-01-01

Magnetic resonance imaging (MRI) in patients with multiple sclerosis (MS) has provided major insights into the disease's natural history, and many studies have focussed on possible correlations between MRI findings and the clinical manifestations of MS. In contrast, there are few reports on possible relationships between functional imaging data and cognitive function. The present study assessed the relationship between clinical presentation and combined anatomical and functional imaging data in MS. Twenty patients with definite MS underwent MRI and positron emission tomography (PET) to evaluate cerebral blood flow (rCBF) and oxygen metabolism (rCMRO 2 ). The relationships between these neuroimaging findings and clinical data, including the Expanded Disability Status Scale (EDSS), Mini-mental status scale, Hasegawa Dementia Scale and relapse time, were evaluated with Spearman's rank correlation coefficients. A general reduction in rCBF and rCMRO 2 in the gray and white matter were found in the MS patients. EDSS was correlated with the number and size of the lesions on MRI and was negatively correlated with rCMRO 2 . A correlation between the decrease in rCMRO 2 and the level of cognitive impairment was also found. The severity of cerebral hypometabolism was also related to the number of relapses. Morphological and functional findings obtained by MRI and PET are closely related to the clinical status in MS. Our results suggest that measurement of cerebral metabolism in MS has the potential to be an objective marker for monitoring disease activity and to provide prognostic information. (author)

Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders.

Science.gov (United States)

Yoo, Ji Youn; Kim, Sung Soo

2016-03-18

Metabolic disorders, including type 2 diabetes (T2DM) and cardiovascular disease (CVD), present an increasing public health concern and can significantly undermine an individual's quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity). The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area.

Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders

Directory of Open Access Journals (Sweden)

Ji Youn Yoo

2016-03-01

Full Text Available Metabolic disorders, including type 2 diabetes (T2DM and cardiovascular disease (CVD, present an increasing public health concern and can significantly undermine an individual’s quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity. The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area.

Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders

Science.gov (United States)

Yoo, Ji Youn; Kim, Sung Soo

2016-01-01

Metabolic disorders, including type 2 diabetes (T2DM) and cardiovascular disease (CVD), present an increasing public health concern and can significantly undermine an individual’s quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity). The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area. PMID:26999199

Metabolic Myopathies.

Science.gov (United States)

Tarnopolsky, Mark A

2016-12-01

Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness. The glycogen-storage diseases present during brief bouts of high-intensity exercise, whereas fatty acid oxidation defects and mitochondrial myopathies present during a long-duration/low-intensity endurance-type activity or during fasting or another metabolically stressful event (eg, surgery, fever). The clinical examination is often normal between acute events, and evaluation involves exercise testing, blood testing (creatine kinase, acylcarnitine profile, lactate, amino acids), urine organic acids (ketones, dicarboxylic acids, 3-methylglutaconic acid), muscle biopsy (histology, ultrastructure, enzyme testing), MRI/spectroscopy, and targeted or untargeted genetic testing. Accurate and early identification of metabolic myopathies can lead to therapeutic interventions with lifestyle and nutritional modification, cofactor treatment, and rapid treatment of rhabdomyolysis.

Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey

NARCIS (Netherlands)

Saudubray, J. M.; Ogier, H.; Bonnefont, J. P.; Munnich, A.; Lombes, A.; Hervé, F.; Mitchel, G.; Poll The, B.; Specola, N.; Parvy, P.

1989-01-01

Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a

Metabolic syndrome in patients with hypertension attending a family practice clinic in Jordan.

Science.gov (United States)

Yasein, N; Ahmad, M; Matrook, F; Nasir, L; Froelicher, E S

2010-04-01

Metabolic syndrome is being reported more frequently in the Eastern Mediterranean region. Patients with hypertension attending family practice clinics in the University of Jordan Hospital between February and July 2006 were assessed for the frequency of metabolic syndrome and its individual components. Of 345 patients studied, 65% had metabolic syndrome. Females were more likely to meet Adult Treatment Panel-III criteria for the diagnosis. Diabetes mellitus was the most frequent component of metabolic syndrome in males, while low serum high-density lipoprotein cholesterol and high waist circumference ranked first and second in females. Primary care providers should be alert to the importance of screening patients with hypertension for metabolic syndrome to prevent and manage these combined conditions.

Baking soda induced severe metabolic alkalosis in a haemodialysis patient.

Science.gov (United States)

Solak, Yalcin; Turkmen, Kultigin; Atalay, Huseyin; Turk, Suleyman

2009-08-01

Metabolic alkalosis is a rare occurence in hemodialysis population compared to metabolic acidosis unless some precipitating factors such as nasogastric suction, vomiting and alkali ingestion or infusion are present. When metabolic alkalosis develops, it may cause serious clinical consequences among them are sleep apnea, resistent hypertension, dysrhythmia and seizures. Here, we present a 54-year-old female hemodialysis patient who developed a severe metabolic alkalosis due to baking soda ingestion to relieve dyspepsia. She had sleep apnea, volume overload and uncontrolled hypertension due to metabolic alkalosis. Metabolic alkalosis was corrected and the patient's clinical condition was relieved with negative-bicarbonate hemodialysis.

Extensive metabolic disorders are present in APC(min) tumorigenesis mice.

Science.gov (United States)

Liu, Zhenzhen; Xiao, Yi; Zhou, Zhengxiang; Mao, Xiaoxiao; Cai, Jinxing; Xiong, Lu; Liao, Chaonan; Huang, Fulian; Liu, Zehao; Ali Sheikh, Md Sayed; Plutzky, Jorge; Huang, He; Yang, Tianlun; Duan, Qiong

2016-05-15

Wnt signaling plays essential role in mesenchymal stem cell (MSC) differentiation. Activation of Wnt signaling suppresses adipogenesis, but promotes osteogenesis in MSC. Adenomatous polyposis coli (APC) is a negative regulator of β-catenin and Wnt signaling activity. The mutation of APC gene leads to the activation of Wnt signaling and is responsible for tumorigenesis in APC(min) mouse; however, very few studies focused on its metabolic abnormalities. The present study reports a widespread metabolic disorder phenotype in APC(min) mice. The old APC(min) mice have decreased body weight and impaired adipogenesis, but severe hyperlipidemia, which mimic the phenotypes of Familial Adenomatous Polyposis (FAP), an inherited disease also caused by APC gene mutation in human. We found that the expression of lipid metabolism and free fat acids (FA) use genes in the white adipose tissue (WAT) of the APC(min) mice is much lower than those of control. The changed gene expression pattern may lead to the disability of circulatory lipid transportation and storage at WAT. Moreover, the APC(min) mice could not maintain the core body temperature in cold condition. PET-CT determination revealed that the BAT of APC(min) mice has significantly impaired ability to take up (18)FDG from the blood. Morphological studies identified that the brown adipocytes of APC(min) mice were filled with lipid droplets but fewer mitochondria. These results matched with the findings of impaired BAT function in APC(min) mice. Collectively, our study explores a new mechanism that explains abnormal metabolism in APC(min) mice and provides insights into studying the metabolic disorders of FAP patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

The clinical presentation of pulmonary embolism

International Nuclear Information System (INIS)

Otto, A.C.; Dunn, M.; Van der Merwe, B.; Katz, M.

2004-01-01

Full text: Introduction: Pulmonary embolism is often misdiagnosed by many clinicians because of confusion with pulmonary infarction. According to present literature, the latter seldomly occurs, thus pleuritic pain and hemoptysis are usually absent. The purpose of our study was to re-evaluate the clinical presentation of pulmonary embolism with specific reference to the presence of pulmonary hypertension and pulmonary infarction. Materials and methods: Ethical committee approval was obtained to study fifteen patients with abnormal lung perfusion and high probability for pulmonary embolism retrospectively. Clinical data will be presented in table format. Appropriate symptoms and signs not mentioned was considered absent. Specific investigations not available was considered not done. Results: Will be displayed in table format. The main findings can be summarized as follows: 1. Dyspnea was present in all the patients; 2. Pleuritic pain and hemoptysis was absent in all the patients; 3. None of the patients had clinical signs of pulmonary hypertension or infarction; 4. The available special investigations confirmed the above mentioned findings. Conclusion: The absence of pulmonary infarction and pulmonary hypertension with submassive pulmonary embolism (<60% of pulmonary vascular bed occluded) was reconfirmed and should be emphasized more in clinical practice. (author)

Novel Plasmodium falciparum metabolic network reconstruction identifies shifts associated with clinical antimalarial resistance.

Science.gov (United States)

Carey, Maureen A; Papin, Jason A; Guler, Jennifer L

2017-07-19

Malaria remains a major public health burden and resistance has emerged to every antimalarial on the market, including the frontline drug, artemisinin. Our limited understanding of Plasmodium biology hinders the elucidation of resistance mechanisms. In this regard, systems biology approaches can facilitate the integration of existing experimental knowledge and further understanding of these mechanisms. Here, we developed a novel genome-scale metabolic network reconstruction, iPfal17, of the asexual blood-stage P. falciparum parasite to expand our understanding of metabolic changes that support resistance. We identified 11 metabolic tasks to evaluate iPfal17 performance. Flux balance analysis and simulation of gene knockouts and enzyme inhibition predict candidate drug targets unique to resistant parasites. Moreover, integration of clinical parasite transcriptomes into the iPfal17 reconstruction reveals patterns associated with antimalarial resistance. These results predict that artemisinin sensitive and resistant parasites differentially utilize scavenging and biosynthetic pathways for multiple essential metabolites, including folate and polyamines. Our findings are consistent with experimental literature, while generating novel hypotheses about artemisinin resistance and parasite biology. We detect evidence that resistant parasites maintain greater metabolic flexibility, perhaps representing an incomplete transition to the metabolic state most appropriate for nutrient-rich blood. Using this systems biology approach, we identify metabolic shifts that arise with or in support of the resistant phenotype. This perspective allows us to more productively analyze and interpret clinical expression data for the identification of candidate drug targets for the treatment of resistant parasites.

Clinical presentation of juvenile Huntington disease

Directory of Open Access Journals (Sweden)

Ruocco Heloísa H.

2006-01-01

Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

Metabolic Syndrome in Patients attending the Staff Clinic of a ...

African Journals Online (AJOL)

Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

Metabolic bone disease as a presenting manifestation of primary Sjögren′s syndrome: Three cases and review of literature

Directory of Open Access Journals (Sweden)

Deepak Khandelwal

2011-01-01

Full Text Available Primary Sjögren′s syndrome (pSS is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Chronic inflammation compromises the glands′ function that leads to dry symptoms in the mouth/eyes. Renal involvement is a well recognized extraglandular manifestation of pSS. Metabolic bone disease (MBD, however, rarely occurs as the primary manifestation of a renal tubule disorder due to pSS. To the best of our knowledge there are only 6 reported cases of metabolic bone disease as the primary manifestation of pSS to date. Four of these had distal renal tubular acidosis (RTA, and 2 had a combined picture of distal and proximal tubular dysfunction. We herein present our experience of 3 cases who presented to us with a clinical picture suggestive of MBD. While investigating these patients, we found evidence of RTA, which was found to be secondary to pSS.

Clinical presentation of renal cell carcinoma

International Nuclear Information System (INIS)

Rehman, R.A.; Ashraf, S.; Jamil, N.

2015-01-01

Most common malignant tumour of the kidney is Renal Cell Carcinoma (RCC) and is known for its unpredictable clinical behaviour. Aetiology and risk factors are not completely understood. Extensive workup is being done in the understanding of the disease, especially to diagnose early and to treat promptly. The objective of this study was to determine the clinical presentation and pathological pattern of RCC. Methods: After approval from ethical committee a retrospective review of records was conducted extending from January 2012 to January 2014 to identify clinical characteristics of renal cell carcinomas. The study included all renal cancer patients presented to Sheikh Zayed Hospital Lahore with in this specified period. The data was retrieved regarding, history, physical examination and necessary investigations such as ultrasonography of abdomen and pelvis and CT scan of abdomen and pelvis. Results: There were total of 50 cases. The male to female ratio was 3:2. Mean age of patients were 52.38 (18-93) years old. Most common clinical presentation was gross haematuria(66%).The mean tumour size was 8.34 (3-24) cm. Tumour histology were clear cell (84%), papillary transitional cell carcinoma (12%) and oncosytoma contributed 4%. Conclusion: We observed that large number of the patients with RCC presented with haematuria and most of them were male. Common pathological type was clear cell carcinoma. (author)

Metabolic profile of clinically severe obese patients.

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Faria, Silvia Leite; Faria, Orlando Pereira; Menezes, Caroline Soares; de Gouvêa, Heloisa Rodrigues; de Almeida Cardeal, Mariane

2012-08-01

Since low basal metabolic rate (BMR) is a risk factor for weight regain, it is important to measure BMR before bariatric surgery. We aimed to evaluate the BMR among clinically severe obese patients preoperatively. We compared it with that of the control group, with predictive formulas and correlated it with body composition. We used indirect calorimetry (IC) to collect BMR data and multifrequency bioelectrical impedance to collect body composition data. Our sample population consisted of 193 patients of whom 130 were clinically severe obese and 63 were normal/overweight individuals. BMR results were compared with the following predictive formulas: Harris-Benedict (HBE), Bobbioni-Harsch (BH), Cunningham (CUN), Mifflin-St. Jeor (MSJE), and Horie-Waitzberg & Gonzalez (HW & G). This study was approved by the Ethics Committee for Research of the University of Brasilia. Statistical analysis was used to compare and correlate variables. Clinically severe obese patients had higher absolute BMR values and lower adjusted BMR values (p BMR were found in both groups. Among the clinically severe obese patients, the formulas of HW & G and HBE overestimated BMR values (p = 0.0002 and p = 0.0193, respectively), while the BH and CUN underestimated this value; only the MSJE formulas showed similar results to those of IC. The clinically severe obese patients showed low BMR levels when adjusted per kilogram per body weight. Body composition may influence BMR. The use of the MSJE formula may be helpful in those cases where it is impossible to use IC.

Correlation of Diffusion and Metabolic Alterations in Different Clinical Forms of Multiple Sclerosis

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Hannoun, Salem; Bagory, Matthieu; Durand-Dubief, Francoise; Ibarrola, Danielle; Comte, Jean-Christophe; Confavreux, Christian; Cotton, Francois; Sappey-Marinier, Dominique

2012-01-01

Diffusion tensor imaging (DTI) and MR spectroscopic imaging (MRSI) provide greater sensitivity than conventional MRI to detect diffuse alterations in normal appearing white matter (NAWM) of Multiple Sclerosis (MS) patients with different clinical forms. Therefore, the goal of this study is to combine DTI and MRSI measurements to analyze the relation between diffusion and metabolic markers, T2-weighted lesion load (T2-LL) and the patients clinical status. The sensitivity and specificity of both methods were then compared in terms of MS clinical forms differentiation. MR examination was performed on 71 MS patients (27 relapsing remitting (RR), 26 secondary progressive (SP) and 18 primary progressive (PP)) and 24 control subjects. DTI and MRSI measurements were obtained from two identical regions of interest selected in left and right centrum semioval (CSO) WM. DTI metrics and metabolic contents were significantly altered in MS patients with the exception of N-acetyl-aspartate (NAA) and NAA/Choline (Cho) ratio in RR patients. Significant correlations were observed between diffusion and metabolic measures to various degrees in every MS patients group. Most DTI metrics were significantly correlated with the T2-LL while only NAA/Cr ratio was correlated in RR patients. A comparison analysis of MR methods efficiency demonstrated a better sensitivity/specificity of DTI over MRSI. Nevertheless, NAA/Cr ratio could distinguish all MS and SP patients groups from controls, while NAA/Cho ratio differentiated PP patients from controls. This study demonstrated that diffusivity changes related to microstructural alterations were correlated with metabolic changes and provided a better sensitivity to detect early changes, particularly in RR patients who are more subject to inflammatory processes. In contrast, the better specificity of metabolic ratios to detect axonal damage and demyelination may provide a better index for identification of PP patients. PMID:22479330

Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

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Anna Alisi

2014-05-01

Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

Fructose use in clinical nutrition: metabolic effects and potential consequences.

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Moulin, Sandra; Seematter, Gérald; Seyssel, Kevin

2017-07-01

The current article presents recent findings on the metabolic effects of fructose. Fructose has always been considered as a simple 'caloric' hexose only metabolized by splanchnic tissues. Nevertheless, there is growing evidence that fructose acts as a second messenger and induces effects throughout the human body. Recent discoveries made possible with the evolution of technology have highlighted that fructose induces pleiotropic effects on different tissues. The fact that all these tissues express the specific fructose carrier GLUT5 let us reconsider that fructose is not only a caloric hexose, but could also be a potential actor of some behaviors and metabolic pathways. The physiological relevance of fructose as a metabolic driver is pertinent regarding recent scientific literature.

Clinical Subtypes of Dementia with Lewy Bodies Based on the Initial Clinical Presentation.

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Morenas-Rodríguez, Estrella; Sala, Isabel; Subirana, Andrea; Pascual-Goñi, Elba; Sánchez-Saudinós, MaBelén; Alcolea, Daniel; Illán-Gala, Ignacio; Carmona-Iragui, María; Ribosa-Nogué, Roser; Camacho, Valle; Blesa, Rafael; Fortea, Juan; Lleó, Alberto

2018-06-04

Dementia with Lewy bodies (DLB) is a heterogeneous disease in which clinical presentation, symptoms, and evolution widely varies between patients. To investigate the existence of clinical subtypes in DLB based on the initial clinical presentation. 81 patients with a clinical diagnosis of probable DLB were consecutively included. All patients underwent a neurological evaluation including a structured questionnaire about neuropsychiatric symptoms and sleep, an assessment of motor impairment (Unified Parkinson Disease Rating Scale subscale III), and a formal neuropsychological evaluation. Onset of core symptoms (hallucinations, parkinsonism, and fluctuations) and dementia were systematically reviewed from medical records. We applied a K-means clustering method based on the initial clinical presentation. Cluster analysis yielded three different groups. Patients in cluster I (cognitive-predominant, n = 46) presented more frequently with cognitive symptoms (95.7%, n = 44, p presented more frequently with psychotic symptoms (77.3%, n = 17), and had a shorter duration until the onset of hallucinations (p clinical DLB can be defined when considering the differential initial presentations. The proposed subtypes have distinct clinical profiles and progression patterns.

RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

OpenAIRE

O. M. Drapkina; J. S. Sibgatullina

2016-01-01

Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

Clinical presentation of adult coeliac disease.

LENUS (Irish Health Repository)

Tajuddin, T

2012-02-01

The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

Hearing Loss, Dizziness, and Carbohydrate Metabolism.

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Albernaz, Pedro L Mangabeira

2016-07-01

Metabolic activity of the inner ear is very intense, and makes it sensitive to changes in the body homeostasis. This study involves a group of patients with inner ear disorders related to carbohydrate metabolism disturbances, including hearing loss, tinnitus, dizziness, and episodes of vertigo. To describe the symptoms of metabolic inner ear disorders and the examinations required to establish diagnoses. These symptoms are often the first to allow for an early diagnosis of metabolic disorders and diabetes. Retrospective study of 376 patients with inner ear symptoms suggestive of disturbances of carbohydrate metabolism. The authors present patientś clinical symptoms and clinical evaluations, with emphasis on the glucose and insulin essays. Authors based their conclusions on otolaryngological findings, diagnostic procedures and treatment principles. They found that auditory and vestibular symptoms usually occur prior to other manifestations of metabolic changes, leading to an early diagnosis of hyperinsulinemia, intestinal sugar malabsorption or diabetes. Previously undiagnosed diabetes mellitus type II was found in 39 patients. The identification of carbohydrate metabolism disturbances is important not only to minimize the patients' clinical symptoms, but also to help maintain their general health.

Hearing Loss, Dizziness, and Carbohydrate Metabolism

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Albernaz, Pedro L. Mangabeira

2015-07-01

Full Text Available Introduction Metabolic activity of the inner ear is very intense, and makes it sensitive to changes in the body homeostasis. This study involves a group of patients with inner ear disorders related to carbohydrate metabolism disturbances, including hearing loss, tinnitus, dizziness, and episodes of vertigo. Objectives To describe the symptoms of metabolic inner ear disorders and the examinations required to establish diagnoses. These symptoms are often the first to allow for an early diagnosis of metabolic disorders and diabetes. Methods Retrospective study of 376 patients with inner ear symptoms suggestive of disturbances of carbohydrate metabolism. The authors present patientś clinical symptoms and clinical evaluations, with emphasis on the glucose and insulin essays. Results Authors based their conclusions on otolaryngological findings, diagnostic procedures and treatment principles. They found that auditory and vestibular symptoms usually occur prior to other manifestations of metabolic changes, leading to an early diagnosis of hyperinsulinemia, intestinal sugar malabsorption or diabetes. Previously undiagnosed diabetes mellitus type II was found in 39 patients. Conclusions The identification of carbohydrate metabolism disturbances is important not only to minimize the patients' clinical symptoms, but also to help maintain their general health.

Nasopharyngeal bursitis: from embryology to clinical presentation

OpenAIRE

El-Shazly, Amr

2010-01-01

AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bu...

Frequency of Metabolic Risk Factors in Children with Urinary Tract Stones Referred to Hamadan Pediatric Nephrology Clinic

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H.E. Momtaz

2012-07-01

Full Text Available Introduction & Objective: Urinary stones are among the most common complaints referred to nephrologist and urologists. Although incidence of urolithiasis is low in children compared to adults and only 7% of all urinary stones are diagnosed before the age of 16 but stones are detected more frequently in pediatric age group in recent years. Metabolic derangements, infection, neurogenic bladder and urinary obstruction are major risk factors of urolithiasis. Common metabolic risk factors of urolithiasis in children are hypercalciuria, uricosuria, hypocitraturia, hyperoxaluria, metabolic acidosis and cystinuria. There are many clinical studies about the frequency of these metabolic risk factors with different results reflecting difference in diet, geographic area and genetics in study populations. In this study we tried to evaluate the frequency of metabolic causes of urinary stones in children referred to Hamadan pediatric nephrology clinic.Materials & Methods: In this cross sectional-descriptive study 156 patients referred due to urinary stones to pediatric nephrology clinic underwent thorough metabolic evaluations including: serum calcium,phosphorus, uric acid, creatinine and non fasting random urine sample for calcium, creatinine , uric acid , oxalate, citrate and cystine . urine solute: creatinine ratios were calculated and compared with normative data.Results: Of 156 patients 136(87.2% had metabolic derangements including: hyperuricosuria in 71 (45.5%, hypercalciuria in 41(26.3%, hypocitraturia in 26 (16.7%, hyperoxaluria in 16(10.3%,cystinuria in 1(0.6% and metabolic acidosis in 39 (25%.Conclusion: High rate of metabolic derangement in pediatric urinary stone patients mandates proper metabolic evaluation in all of them. hyperuricosuria was the most common metbolic finding instead of hypercalciuria in this study. This could be due to differences in diet, geographic area and genetic background in various populations.(Sci J Hamadan Univ Med Sci

The challenge of cystine and struvite stone formers: clinical, metabolic and surgical assessment

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Yamaçake, Kleiton G. R.; Marchini, Giovanni S.; Reis, Sabrina; Danilovic, Alexandre; Vicentini, Fábio C.; Torricelli, Fábio C. M.; Srougi, Miguel; Mazzucchi, Eduardo

2016-01-01

ABSTRACT Purpose: To compare the clinical, metabolic, and calculi characteristics of cystine and struvite stone patients after percutaneous nephrolithotripsy (PCNL). Material and Methods: Between January/2006-July/2013, 11 cystine stone patients were treated in our clinic. Of those, 3 were excluded due to incomplete follow-up. Eight cystine stone patients (2 with bilateral disease; 10 renal units-RU) were considered for further analysis. A cohort of 8 struvite stone formers (10RU) was matched having the same age, gender, body mass index (BMI) and Guys stone score. Analyzed parameters comprised demographic data, serum/urinary metabolic evaluation and surgical outcomes. Results: Both groups had 6 female patients. Groups were similar in regards to age, gender, BMI, stone burden, and serum creatinine (p=NS). All patients had PCNL as the first surgical treatment modality. Stone free rate (SFR) after the first PCNL tended to be lower (0%) in the cystine compared to the struvite group (40%)(p=0.08). Final SFR after secondary procedures increased to 70% in cystine and 80% in struvite patients (p=1.0); mean number of procedures to achieve stone free status was higher in the first group (3.57 vs. 2.0;p=0.028). Hypocitraturia was found in all patients, but struvite cases presented with lower mean urinary citrate levels (p=0.016). Other common abnormalities were elevated urinary pH (cystine 75% and struvite 62.5%;p=1.0) and low urinary volume (62.5%,37.5%;p=0.63). Conclusion: Multiple interventions and suboptimal stone free rates are trait of the significant stone burden of struvite and cystine patients. Underlying metabolic abnormalities characterized by increased urinary pH, hypocitraturia and low urinary volume are often encountered in both populations. PMID:27622279

Impact of a Metabolic Screening Bundle on Rates of Screening for Metabolic Syndrome in a Psychiatry Resident Outpatient Clinic

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Wiechers, Ilse R.; Viron, Mark; Stoklosa, Joseph; Freudenreich, Oliver; Henderson, David C.; Weiss, Anthony

2012-01-01

Objective: Although it is widely acknowledged that second-generation antipsychotics are associated with cardiometabolic side effects, rates of metabolic screening have remained low. The authors created a quality-improvement (QI) intervention in an academic medical center outpatient psychiatry resident clinic with the aim of improving rates of…

Diet-Induced Low-Grade Metabolic Acidosis and Clinical Outcomes: A Review

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Renata Alves Carnauba

2017-05-01

Full Text Available Low-grade metabolic acidosis is a condition characterized by a slight decrease in blood pH, within the range considered normal, and feeding is one of the main factors that may influence the occurrence of such a condition. The excessive consumption of acid precursor foods (sources of phosphorus and proteins, to the detriment of those precursors of bases (sources of potassium, calcium, and magnesium, leads to acid-base balance volubility. If this condition occurs in a prolonged, chronic way, low-grade metabolic acidosis can become significant and predispose to metabolic imbalances such as kidney stone formation, increased bone resorption, reduced bone mineral density, and the loss of muscle mass, as well as the increased risk of chronic diseases such as type 2 diabetes mellitus, hypertension, and non-alcoholic hepatic steatosis. Considering the increase in the number of studies investigating the influence of diet-induced metabolic acidosis on clinical outcomes, this review gathers the available evidence evaluating the association of this disturbance and metabolic imbalances, as well as related mechanisms. It is necessary to look at the western dietary pattern of most countries and the increasing incidence of non-comunicable diseases for the balance between fruit and vegetable intake and the appropriate supply of protein, mainly from animal sources, so that it does not exceed the daily recommendations.

Extranasopharyngeal angiofibroma: clinical and radiological presentation.

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Szymańska, Anna; Szymański, Marcin; Morshed, Kamal; Czekajska-Chehab, Elżbieta; Szczerbo-Trojanowska, Małgorzata

2013-02-01

Nasopharyngeal angiofibroma (NA) is a rare, vascular tumor affecting adolescent males. Due to aggressive local growth, skull base location and risk of profound hemorrhage, NA is a challenge for surgeons. Angiofibromas have been sporadically described in extanasopharyngeal locations. We review ten cases of extranasopharyngeal angiofibroma (ENA) and discuss the incidence, clinical presentation and management of this pathology. The group consisted of 4 males and 5 females aged 8-49. There were 7 patients with nasal angiofibroma, 1 patient with laryngeal angiofibroma, 1 patient with oral angiofibroma and another patient with infratemporal fossa tumor. In patients with nasal angiofibroma most common presenting symptoms were nasal obstruction and epistaxis. Patients with laryngeal angiofibroma suffered from mild dysphagia and patients with the infratemporal fossa tumor had painless cheek swelling. In four patients with nasal tumor computed tomography (CT) demonstrated mass with strong to intermediate contrast enhancement. In one patient with nasal tumor carotid angiography demonstrated pathological vessels without intensive tumor blush. Infratemporal fossa tumor showed intensive contrast enhancement on CT and magnetic resonance imaging (MRI) scans, and abundant vascularity on angiography. Laryngeal and oral angiofibroma required no radiological imaging. Three nasal tumors were evaluated before introduction of CT to clinical practice. All patients underwent surgery. No recurrences developed. ENAs differ significantly from NAs regarding clinical and radiological presentations. They lack typical clinical and radiological features as they develop in all age groups and in females, may be less vascularised, arise from various sites and produce a variety of symptoms.

Systematization of clinical trials related to treatment of metabolic syndrome, 1980-2015.

Science.gov (United States)

Cardona Velásquez, Santiago; Guzmán Vivares, Laura; Cardona-Arias, Jaiberth Antonio

2017-02-01

Despite the clinical, epidemiological, and economic significance of metabolic syndrome, the profile of clinical trials on this disease is unknown. To characterize the clinical trials related to treatment of metabolic syndrome during the 1980-2015 period. Systematic review of the literature using an ex ante search protocol which followed the phases of the guide Preferred Reporting Items for Systematic Reviews and Meta-Analyses in four multidisciplinary databases with seven search strategies. Reproducibility and methodological quality of the studies were assessed. One hundred and six trials were included, most from the United States, Italy, and Spain, of which 63.2% evaluated interventions effective for several components of the syndrome such as diet (40.6%) or physical activity (22.6%). Other studies assessed drugs for a single factor such as hypertension (7.5%), hypertriglyceridemia (11.3%), or hyperglycemia (9.4%). Placebo was used as control in 54.7% of trials, and outcome measures included triglycerides (52.8%), HDL (48.1%), glucose (29.2%), BMI (33.0%), blood pressure (27.4%), waist circumference (26.4%), glycated hemoglobin (11.3%), and hip circumference (7.5%). It was shown that studies ob efficacy of treatment for metabolic syndrome are scarce and have mainly been conducted in the last five years and in high-income countries. Trials on interventions that affect three or more factors and assess several outcome measures are few, and lifestyle interventions (diet and physical activity) are highlighted as most important to impact on this multifactorial syndrome. Copyright © 2017 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

Clinical Presentations of Acute Leukemia

International Nuclear Information System (INIS)

Shahab, F.; Raziq, F.

2014-01-01

Objective: To document the clinical presentation and epidemiology of various types of acute leukemia with their respective referral source at a tertiary level centre in Peshawar. Study Design: An observational study. Place and Duration of Study: Department of Pathology, Hayatabad Medical Complex (HMC), Peshawar, from January 2011 to May 2012. Methodology: A total of 618 bone marrow biopsy reports were reviewed. All biopsy reports labeled as acute leukemia were reviewed for age, gender, address, referring unit, diagnosis on bone marrow examination, presenting complaints, duration of illness and findings of clinical examination. Results: Ninety-two patients were diagnosed as suffering from acute leukemias (15%). ALL was most prevalent (46%), followed by AML (38%) and undifferentiated acute leukemia (16%). Males were affected more compared to females (60% vs. 40%). ALL and AML were predominant in pediatric (64%) and adults (77%) patients respectively. Patients from Afghanistan accounted for 33% of all cases followed by Peshawar (14%). Fever (77%), pallor (33%) and bleeding disorders (23%) were the main presenting complaints. Enlargement of liver, spleen and lymph nodes together was associated with ALL compared with AML (p = 0.004). Conclusion: ALL-L1 and AML-M4 were the most common sub-types. Fever, pallor and bleeding disorders were the main presenting complaints. Enlargement of liver, spleen and lymph nodes was more frequently associated with ALL compared to AML. (author)

A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

Science.gov (United States)

Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

2015-04-01

Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

A Case of Chronic Ethylene Glycol Intoxication Presenting without Classic Metabolic Derangements

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Stephanie M. Toth-Manikowski

2014-01-01

Full Text Available Acute ethylene glycol ingestion classically presents with high anion gap acidosis, elevated osmolar gap, altered mental status, and acute renal failure. However, chronic ingestion of ethylene glycol is a challenging diagnosis that can present as acute kidney injury with subtle physical findings and without the classic metabolic derangements. We present a case of chronic ethylene glycol ingestion in a patient who presented with acute kidney injury and repeated denials of an exposure history. Kidney biopsy was critical to the elucidation of the cause of his worsening renal function.

Cutaneous sporotrichosis: Unusual clinical presentations

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Mahajan Vikram

2010-01-01

Full Text Available Three unusual clinical forms of sporotrichosis described in this paper will be a primer for the clinicians for an early diagnosis and treatment, especially in its unusual presentations. Case 1, a 52-year-old man, developed sporotrichosis over pre-existing facial nodulo-ulcerative basal cell carcinoma of seven-year duration, due to its contamination perhaps from topical herbal pastes and lymphocutaneous sporotrichosis over right hand/forearm from facial lesion/herbal paste. Case 2, a 25-year-old woman, presented with disseminated systemic-cutaneous, osteoarticular and possibly pleural (effusion sporotrichosis. There was no laboratory evidence of tuberculosis and treatment with anti-tuberculosis drugs (ATT did not benefit. Both these cases were diagnosed by histopathology/culture of S. schenckii from tissue specimens. Case 3, a 20-year-old girl, had multiple intensely pruritic, nodular lesions over/around left knee of two-year duration. She was diagnosed clinically as a case of prurigo nodularis and histologically as cutaneous tuberculosis, albeit, other laboratory investigations and treatment with ATT did not support the diagnosis. All the three patients responded well to saturated solution of potassium iodide (SSKI therapy. A high clinical suspicion is important in early diagnosis and treatment to prevent chronicity and morbidity in these patients. SSKI is fairly safe and effective when itraconazole is not affordable/ available.

PET, Positron emission tomography: Presentation of a clinical case

International Nuclear Information System (INIS)

Sierralta C, Paulina; Jofre M, M. Josefina; Gonzalez E, Patricio; Massardo V, Teresa; Humeres A, Pamela; Canessa G, Jose

2003-01-01

A patient with a solitary pulmonary nodule is presented. She was studied with PET using F-18 FDG. The metabolic images demonstrated increased uptake in the nodule and 2 additional areas suggestive of extension, not seen in anatomic diagnostic procedures. These findings were compatible with a malignant tumour with metastasis (au)

Clinical translation of photobiomodulation therapy using evidences from precision molecular pathway analyses (Conference Presentation)

Science.gov (United States)

Arany, Praveen

2017-02-01

Can `light' be a Drug? To satisfy this definition as a pharmaceutical agent, light must be absorbed and change bodily function. Much evidence from our understanding of our visual cycle and Vitamin D metabolism have all noted this phenomenon. Advances in optophotonic technologies along with a better understanding of light-tissue interactions, especially in in vivo optical imaging and optogenetics, are spearheading the popularity of biophotonics in biology and medicine. The use of lasers and light devices at high doses in dermatology, ophthalmology, oncology and dentistry are now considered mainstream for certain clinical applications such as surgery, skin rejuvenation, ocular and soft tissue recontouring, anti-tumor and anti-microbial photodynamic therapy. In contrast, therapeutic use of low dose biophotonics devices is called Low Level Light / Laser Therapy (LLLT), now termed Photobiomodulation (PBM) Therapy. This therapy is defined as a non-thermal use of non-ionizing forms of electromagnetic radiation to alleviate pain, inflammation, modulating the immune responses and promoting wound healing and tissue regeneration. Surprisingly, despite vast volumes of scientific literature from both clinical and laboratory studies noting the phenomenological evidences for this innovative therapy, limited mechanistic insights have prevented the development of rigorous, reproducible clinical protocols. This presentation will outline our current efforts at ongoing efforts in our group to assess molecular pathways and precisely define clinical treatment variables to enable clinical translation with PBM therapies.

Metabolic Control of Dendritic Cell Activation and Function: Recent Advances and Clinical Implications

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Bart eEverts

2014-05-01

Full Text Available Dendritic cells (DCs are key regulators of both immunity and tolerance by controlling activation and polarization of effector T helper cell and regulatory T cell responses. Therefore, there is a major focus on developing approaches to manipulate DC function for immunotherapy. It is well known that changes in cellular activation are coupled to profound changes in cellular metabolism. Over the past decade there is a growing appreciation that these metabolic changes also underlie the capacity of immune cells to perform particular functions. This has led to the concept that the manipulation of cellular metabolism can be used to shape innate and adaptive immune responses. While most of our understanding in this area has been gained from studies with T cells and macrophages, evidence is emerging that the activation and function of DCs are also dictated by the type of metabolism these cells commit to. We here discuss these new insights and explore whether targeting of metabolic pathways in DCs could hold promise as a novel approach to manipulate the functional properties of DCs for clinical purposes.

Endodontic microsurgery, presentation of a clinical case

International Nuclear Information System (INIS)

Zeledon Mayorga, Rodolfo

2009-01-01

A literature review is conducted on endodontic surgery. The report of a clinical case is facilitated. The technique chosen according to the clinical and radiographic examination was endodontic microsurgery, the case has presented a positive evolution of four years [es

Clinical predictors and outcome of metabolic acidosis in under-five children admitted to an urban hospital in Bangladesh with diarrhea and pneumonia.

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Mohammod J Chisti

Full Text Available BACKGROUND: Clinical features of metabolic acidosis and pneumonia frequently overlap in young diarrheal children, resulting in differentiation from each other very difficult. However, there is no published data on the predictors of metabolic acidosis in diarrheal children also having pneumonia. Our objective was to evaluate clinical predictors of metabolic acidosis in under-five diarrheal children with radiological pneumonia, and their outcome. METHODS: We prospectively enrolled all under-five children (n = 164 admitted to the Special Care Ward (SCW of the Dhaka Hospital of icddr, b between September and December 2007 with diarrhea and radiological pneumonia who also had their total serum carbon-dioxide estimated. We compared the clinical features and outcome of children with radiological pneumonia and diarrhea with (n = 98 and without metabolic acidosis (n = 66. RESULTS: Children with metabolic acidosis more often had higher case-fatality (16% vs. 5%, p = 0.039 compared to those without metabolic acidosis on admission. In logistic regression analysis, after adjusting for potential confounders such as age of the patient, fever on admission, and severe wasting, the independent predictors of metabolic acidosis in under-five diarrheal children having pneumonia were clinical dehydration (OR 3.57, 95% CI 1.62-7.89, p = 0.002, and low systolic blood pressure even after full rehydration (OR 1.02, 95% CI 1.01-1.04, p = 0.005. Proportions of children with cough, respiratory rate/minute, lower chest wall indrawing, nasal flaring, head nodding, grunting respiration, and cyanosis were comparable (p>0.05 among the groups. CONCLUSION AND SIGNIFICANCE: Under-five diarrheal children with radiological pneumonia having metabolic acidosis had frequent fatal outcome than those without acidosis. Clinical dehydration and persistent systolic hypotension even after adequate rehydration were independent clinical predictors of metabolic acidosis among the children

Clinical predictors and outcome of metabolic acidosis in under-five children admitted to an urban hospital in Bangladesh with diarrhea and pneumonia.

Science.gov (United States)

Chisti, Mohammod J; Ahmed, Tahmeed; Ashraf, Hasan; Faruque, A S G; Bardhan, Pradip K; Dey, Sanjoy Kumer; Huq, Sayeeda; Das, Sumon Kumar; Salam, Mohammed A

2012-01-01

Clinical features of metabolic acidosis and pneumonia frequently overlap in young diarrheal children, resulting in differentiation from each other very difficult. However, there is no published data on the predictors of metabolic acidosis in diarrheal children also having pneumonia. Our objective was to evaluate clinical predictors of metabolic acidosis in under-five diarrheal children with radiological pneumonia, and their outcome. We prospectively enrolled all under-five children (n = 164) admitted to the Special Care Ward (SCW) of the Dhaka Hospital of icddr, b between September and December 2007 with diarrhea and radiological pneumonia who also had their total serum carbon-dioxide estimated. We compared the clinical features and outcome of children with radiological pneumonia and diarrhea with (n = 98) and without metabolic acidosis (n = 66). Children with metabolic acidosis more often had higher case-fatality (16% vs. 5%, p = 0.039) compared to those without metabolic acidosis on admission. In logistic regression analysis, after adjusting for potential confounders such as age of the patient, fever on admission, and severe wasting, the independent predictors of metabolic acidosis in under-five diarrheal children having pneumonia were clinical dehydration (OR 3.57, 95% CI 1.62-7.89, p = 0.002), and low systolic blood pressure even after full rehydration (OR 1.02, 95% CI 1.01-1.04, p = 0.005). Proportions of children with cough, respiratory rate/minute, lower chest wall indrawing, nasal flaring, head nodding, grunting respiration, and cyanosis were comparable (p>0.05) among the groups. Under-five diarrheal children with radiological pneumonia having metabolic acidosis had frequent fatal outcome than those without acidosis. Clinical dehydration and persistent systolic hypotension even after adequate rehydration were independent clinical predictors of metabolic acidosis among the children. However, metabolic acidosis in young diarrheal children had no impact on the

[The efficacy of the combined rehabilitative treatment of the patients presenting with obesity, metabolic syndrome, and diseases of the hepatobiliary system].

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Cherchinian, A S

2012-01-01

A total of 80 patients presenting with exogenous constitutional obesity, metabolic syndrome, and diseases of the hepatobiliary system (including chronic non-calculous cholecystitis and fatty hepatosis) were enrolled to participate in the present study. The basal treatment consisted of the adequate reducing diet, remedial gymnastics, massage, reflexo-acupuncture, the application of galvanic muds, and controlled intake of chofitol. It was supplemented with magnetic laser irradiation of selected abdominal regions, and electrical stimulation of femoral, dorsal, and abdominal muscles. It was shown that the combination of the above procedures and physical factors significantly improves the overall outcome of the treatment. The patients suffering intestinal dysbacteriosis were prescribed the intake of probiotic Nor Narine together with Jermuk mineral water; they were found to benefit from such treatment due to normalization of intestinal biocenosis and improvement of their general condition. The clinical and paraclinical data obtained in this study give evidence of the therapeutic efficacy of certain physical factors and especially their combination used for the medical rehabilitation of the patients presenting with constitutional obesity, metabolic syndrome, and digestive disorders. Moreover, the well-apparent positive results were documented from the combined treatment with magnetic laser radiation and therapeutic muds.

Clinical presentation of infants hospitalised with pertussis | Kahl ...

African Journals Online (AJOL)

Background. Despite the widespread use of pertussis vaccine, there has been a resurgence of pertussis cases in developed and developing countries. South Africa lacks data regarding clinical presentation and healthcare impact of pertussis. Objectives. To describe the clinical presentation and healthcare impact in ...

Dynamic bowel obstruction: aetiology, clinical presentation ...

African Journals Online (AJOL)

This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction. Data were analyzed using SPSS software system. A total of 342 patients were studied. Males outnumbered females by a ratio of 2.1: 1. The median age of patients at presentation ...

Nasopharyngeal bursitis: from embryology to clinical presentation

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AE El-Shazly

2010-10-01

Full Text Available AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bursitis. For 2008–2009, six patients were diagnosed to have nasopharyngeal bursitis, including four males and two females, of mean age 54 years. Two distinct pathologic types were observed, comprising three patients with classical Tornwaldt’s cyst and three with crust-type bursitis. This audit highlights the importance of recognition of the crust-type of nasopharyngeal bursitis and its anatomic and clinical features. A combined endonasal and transoral endoscopic approach is a minimally invasive procedure and an effective method of treating both types of the disease. Our findings are discussed in relation to the embryology of the disorder, with a clinical emphasis on crust-type nasopharyngeal bursitis.Keywords: nasopharyngeal bursitis, crust type, Tornwaldt’s cyst, endoscopic disruption

Clinical significance of metabolic superscan in patients with hyperthyroidism

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Kotb, M.; Khalafallah, K.; Omar, W.; El-Maghraby, T.; Grace, G.

2007-01-01

Hyperthyroid patients commonly complain of generalized bony aches, which are frequently overlooked due to the more prominent symptoms of cardiovascular and nervous disturbances. Hyperthyroid patients are expected to have abnormal bone metabolism as part of the generalized hypermetabolic status. The aim of this study is to verify the presence of metabolic bone superscan in association with the hypermetabolic stats in various groups of hyperthyroidism. Secondly, to correlate these superscan features with the various laboratory results in hyperthyroid patients. Forty-five hyperthyroid patients confirmed by clinical and laboratory results were enrolled in this work. In all patients, a 99 m T c-pertechnetate thyroid uptake scan was acquired. On a different day, total body bone scan was acquired three hours post IV injection of 555-925 MBq of 99 m T c-MDP. Serum FT3, FT4, TSH, Ca ++ , alkaline phosphatase (AP) and parathyroid hormone (PTH) were monitored in all patients as markers of thyroid and bone metabolism. Ten cases with no thyroid diseases were included as a control group. Patients with thyroiditis or long history of antithyroid drugs for more than one year were excluded from the study. The patients were subdivided into three groups: Graves' disease (GD) (n = 30), toxic nodular goiter (TNG) (n = 10) and autonomous toxic adenoma (AT) (n = 5). The TSH for the whole group was significantly suppressed compared to the control group with higher suppression in the Graves' disease group than in the TNG or AT groups. 99m Tc-pertechnetate uptake values in the Graves' disease group were significantly higher than the TNG and AT groups (p + , AP and PTH between the Graves' and non-Graves' groups (p ≥ 0.05). Disturbances in bone metabolism are more prevalent in Graves' disease than in other types of hyperthyroidism. The addition of the bone scan to the diagnostic work up of patients with Graves' disease is a sensitive indicator for metabolic bone changes and could help in the

[Low-grade systemic inflammation and the development of metabolic diseases: from the molecular evidence to the clinical practice].

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León-Pedroza, José Israel; González-Tapia, Luis Alonso; del Olmo-Gil, Esteban; Castellanos-Rodríguez, Diana; Escobedo, Galileo; González-Chávez, Antonio

2015-01-01

Systemic inflammation is characterised by high circulating levels of inflammatory cytokines and increased macrophage infiltration in peripheral tissues. Most importantly, this inflammatory state does not involve damage or loss of function of the infiltrated tissue, which is a distinctive feature of the low-grade systemic inflammation. The term "meta-inflammation" has also been used to refer to the low-grade systemic inflammation due to its strong relationship with the development of cardio-metabolic diseases in obesity. A review is presented on the recent clinical and experimental evidence concerning the role of adipose tissue inflammation as a key mediator of low-grade systemic inflammation. Furthermore, the main molecular mechanisms involved in the inflammatory polarization of macrophages with the ability to infiltrate both the adipose tissue and the vascular endothelium via activation of toll-like receptors by metabolic damage-associated molecular patterns, such as advanced glycation-end products and oxidized lipoproteins, is discussed. Finally, a review is made of the pathogenic mechanisms through which the low-grade systemic inflammation contributes to develop insulin resistance, dyslipidaemia, atherogenesis, type 2 diabetes, and hypertension in obese individuals. A better understanding of the molecular mechanisms of low-grade systemic inflammation in promoting cardio-metabolic diseases is necessary, in order to further design novel anti-inflammatory therapies that take into consideration clinical data, as well as the circulating levels of cytokines, immune cells, and metabolic damage-associated molecular patterns in each patient. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

The pharmacological management of metabolic syndrome.

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Rask Larsen, Julie; Dima, Lorena; Correll, Christoph U; Manu, Peter

2018-04-01

The metabolic syndrome includes a constellation of several well-established risk factors, which need to be aggressively treated in order to prevent overt type 2 diabetes and cardiovascular disease. While recent guidelines for the treatment of individual components of the metabolic syndrome focus on cardiovascular benefits as resulted from clinical trials, specific recent recommendations on the pharmacological management of metabolic syndrome are lacking. The objective of present paper was to review the therapeutic options for metabolic syndrome and its components, the available evidence related to their cardiovascular benefits, and to evaluate the extent to which they should influence the guidelines for clinical practice. Areas covered: A Medline literature search was performed to identify clinical trials and meta-analyses related to the therapy of dyslipidemia, arterial hypertension, glucose metabolism and obesity published in the past decade. Expert commentary: Our recommendation for first-line pharmacological are statins for dyslipidemia, renin-angiotensin-aldosteron system inhibitors for arterial hypertension, metformin or sodium/glucose cotransporter 2 inhibitors or glucagon-like peptide 1 receptor agonists (GLP-1RAs) for glucose intolerance, and the GLP-1RA liraglutide for achieving body weight and waist circumference reduction.

Bone Metabolism after Bariatric Surgery

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Yu, Elaine W.

2014-01-01

Bariatric surgery is a popular and effective treatment for severe obesity, but may have negative effects on the skeleton. This review summarizes changes in bone density and bone metabolism from animal and clinical studies of bariatric surgery, with specific attention to Roux-en-Y gastric bypass (RYGB), adjustable gastric banding (AGB), and sleeve gastrectomy (SG). Skeletal imaging artifacts from obesity and weight loss are also considered. Despite challenges in bone density imaging, the preponderance of evidence suggests that bariatric surgery procedures have negative skeletal effects that persist beyond the first year of surgery, and that these effects vary by surgical type. The long-term clinical implications and current clinical recommendations are presented. Further study is required to determine mechanisms of bone loss after bariatric surgery. Although early studies focused on calcium/vitamin D metabolism and mechanical unloading of the skeleton, it seems likely that surgically-induced changes in the hormonal and metabolic profile may be responsible for the skeletal phenotypes observed after bariatric surgery. PMID:24677277

Metabolic Syndrome in Children: Clinical Picture, Features of Lipid and Carbohydrate Metabolism

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O.S. Bobrykovych

2013-09-01

Full Text Available The study included 225 children aged from 14 to 18 years with various manifestations of the metabolic syndrome in neighborhoods, different by iodine provision. The physical development (height, weight, body mass index, waist and hip circumferences has been examined. Biochemical investigations are focused on the study of lipid and carbohydrate metabolism in children. It is found that children who live in mountains have more severe obesity. In parallel with the increase of the degree of obesity, disorders of lipid and carbohydrate metabolism aggravate in children with sings of metabolic syndrome.

Prevalence and clinical characteristics of metabolically healthy obese individuals and other obese/non-obese metabolic phenotypes in a working population: results from the Icaria study

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Albert Goday

2016-04-01

Full Text Available Abstract Background Metabolically healthy obese (MHO phenotype may present with distinct characteristics compared with those with a metabolically unhealthy obese phenotype. Epidemiologic data on the distribution of these conditions in the working population are lacking. We aimed to evaluate the prevalence and clinical characteristics of MHO and other obese/non-obese metabolic phenotypes in a working population. Methods Cross-sectional analysis of all subjects who had undergone a medical examination with Ibermutuamur Prevention Society from May 2004 to December 2007. Participants were classified into 5 categories according to their body mass index (BMI; within each of these categories, participants were further classified as metabolically healthy (MH or metabolically unhealthy (MUH according to the modified NCEP-ATPIII criteria. A logistic regression analysis was performed to evaluate some clinically relevant factors associated with a MH status. Results In the overall population, the prevalence of the MHO phenotype was 8.6 %. The proportions of MH individuals in the overweight and obese categories were: 87.1 % (overweight and 55.5 % (obese I-III [58.8, 40.0, and 38.7 % of the obese I, II, and III categories, respectively]. When the overweight and obese categories were considered, compared with individuals who were MUH, those who were MH tended to be younger and more likely to be female or participate in physical exercise; they were also less likely to smoke, or to be a heavy drinker. In the underweight and normal weight categories, compared with individuals who were MH, those who were MUH were more likely to be older, male, manual (blue collar workers, smokers and heavy drinkers. Among participants in the MUH, normal weight group, the proportion of individuals with a sedentary lifestyle was higher relative to those in the MH, normal weight group. The factors more strongly associated with the MUH phenotype were BMI and age, followed by the

Clinical correlates of decreased anteroposterior metabolic gradients in positron emission tomography (PET) of schizophrenic patients

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DeLisi, L.E.; Buchsbaum, M.S.; Holcomb, H.H.

1985-01-01

The finding in schizophrenic patients of a reversal of the normal frontal to posterior pattern of brain metabolic activity with positron emission tomography (PET) is of interest, but its relevance to psychopathology is unknown. Using PET, the authors studied 21 patients with chronic schizophrenia and 21 age- and sex-matched control subjects. Although eight of the 21 patients and only one of the control subjects showed a relatively lower anteroposterior metabolic gradient, no clinical correlates of this finding were noted. In addition, cerebral atrophy, as determined by CAT scan, was not associated with this aberrant metabolic pattern

La obesidad y sus consecuencias clinicometabólicas Obesity and its clinical and metabolic consequences

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Lidia Esther Rodríguez Scull

2004-12-01

Full Text Available La obesidad constituye un serio problema de salud mundial. En las últimas 3 décadas se ha producido un incremento importante de la cifra de personas obesas al punto de alcanzar magnitud de epidemia y de lo que es más importante: sus consecuencias clinicometabólicas. La obesidad está vinculada estrechamente con las principales causas de morbimortalidad y discapacidad. La resistencia insulínica (RI es quizás su consecuencia más temible, ya que de ella se derivan una serie de alteraciones metabólicas y endoteliales relacionadas con el desarrollo de la enfermedad vacular coronaria: la diabetes mellitus, la hipertensión arterial, las dislipidemias y la enfermedad cerebrovascular. En la medida en que aumenta el peso corporal, aumenta la producción de citoquinas y ácidos grasos libres con efectos sobre la insulina, disminuye la sensibilidad a su acción y de ahí derivan alteraciones de la pared y el tono vascular, así como del metabolismo de glúcidos y lípidos, que dan origen a estas consecuencias. Con la presente revisión nos proponemos profundizar en el papel del adipocito como órgano o tejido endocrino, y los mecanismos hasta ahora conocidos que dan origen a las complicaciones clinicometabólicas de la obesidad.Obesity is a serious problem in world health. During the last three decades, there has been a significant increase of the figure of obese persons about to reach the magnitude of epidemics and of what is more important: its clinical and metabolic consequences. Obesity is closely linked to the main cause of morbimortality and disability: Insulin resitance is maybe its most feared consequence, since a series of metabolic and endothelial alterations related to the development of coronary vascular disease derived from it: diabetes mellitus, arterial hypertension, dyslipidemias and cerebrovascular disease. As body weight increases, the production of cytokines and free fatty acids with effects on insulin is higher, and the

Clinical presentation of late haemorrhagic disease of newborn

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Majeed, R.; Memon, Y.; Majeed, F.

2008-01-01

To observe the clinical presentation of late haemorrhagic disease of the newborn (LHDNB), and clinical improvement after the administration of vitamin K/sub 1/. This is a prospective descriptive study. All the children older than seven days who presented with bleeding were admitted in pediatrics ward of Isra University Hyderabad from April 2006 to April 2007 were included. Data collection was done by means of detailed proforma. Analysis was done on SPSS version 11. Thirty five cases were included. Commonest site of bleeding was subcutaneous followed by oral and injection site. Mean age of late haemorrhagic disease of newborn was 109 days and minimum age of presentation was 28 days. Common clinical presentations were irritability, convulsions, poor reflexes and poor feeding. Mostly recovery was within 24 hours after vit K. Late HDN results in severe hemorrhage especially hemorrhage in the central nervous system. Administration of Vitamin K (1mg, 1M) at birth can present these severe complications. (author)

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

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Sindoni, Alessandro; Rodolico, Carmelo; Pappalardo, Maria Angela; Portaro, Simona; Benvenga, Salvatore

2016-12-01

Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fatigability) are mentioned by the majority of patients with frank hypothyroidism. Often underestimated is the fact that muscle symptoms may represent the predominant or the only clinical manifestation of hypothyroidism, raising the issue of a differential diagnosis with other causes of myopathy, which sometimes can be difficult. Elevated serum creatine kinase, which not necessarily correlates with the severity of the myopathic symptoms, is certainly suggestive of muscle impairment, though it does not explain the cause. Rare muscular manifestations, associated with hypothyroidism, are rhabdomyolysis, acute compartment syndrome, Hoffman's syndrome and Kocher-Debré-Sémélaigne syndrome. Though the pathogenesis of hypothyroid myopathy is not entirely known, proposed mechanisms include altered glycogenolytic and oxidative metabolism, altered expression of contractile proteins, and neuro-mediated damage. Correlation studies of haplotype, muscle gene expression and protein characterization, could help understanding the pathophysiological mechanisms of this myopathic presentation of hypothyroidism.

Regional cerebral glucose metabolism in frontotemporal lobar degeneration

International Nuclear Information System (INIS)

Park, J.M.; Cho, S.S.; Lee, K.-H.; Choi, Y.; Choe, Y.S.; Kim, B.-T.; Kim, S.E.; Kwon, J.C.; Na, D.L.

2002-01-01

Purpose: Frontotemporal lobar degeneration (FTLD) is the third most common cause of dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neuro behavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patients with FTLD presented with four different clinical syndromes. Methods: We analyzed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Results: Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral pre-motor area was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical and neuropsychological features of FTLD syndromes. Conclusion: These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD

Anthropometric, clinical, and metabolic comparisons of the four Rotterdam PCOS phenotypes: A prospective study of PCOS women.

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Kar, Sujata

2013-07-01

1. To study the distribution of various Rotterdam classified phenotypes of polycystic ovarian syndrome (PCOS) women, in our population. 2. To compare the four phenotypes with respect to anthropometric, clinical, and metabolic parameters. 3. To report the prevalence of insulin resistance (IR) and metabolic syndrome in these women. Private practice, Prospective cross-sectional comparative study. Women attending gynecology outpatient with the primary complains of irregular menses and/or infertility were evaluated. Each of them underwent detailed clinical examination, transvaginal sonography, and biochemical and hormonal assays. Four hundred and ten women with a clinical diagnosis of PCOS based on Rotterdam criteria were included in the study. The four phenotypes were 1) PCO complete, that is oligo/anovulation (O) + polycystic ovaries (P) + hyperandrogenism (H) 2) P + O, 3) P + H, and 4) O + H. All women were also evaluated for metabolic syndrome (American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI), modified Adult Treatment Panel (ATP) III 2005 guidelines) and IR (homeostatic model assessment-IR (HOMA-IR)). Statistical Package for Social Sciences (SPSS) version 18. Largest group was PCOS complete (65.6%) followed by P + O (22.2%); H + O (11.2%); and P + H (0.9%). Overall prevalence of metabolic syndrome was 35.07%. Hyperandrogenic phenotyptes; H + O (50%) and P + H + O (37.04%), had significantly higher prevalence of metabolic syndrome than normoandrogenic P + O phenotype (10%) (P ≤ 0.001). Body mass index (BMI) ≥ 25 (P = 0.0004; odds ratio (OR) = 3.07 (1.6574-5.7108, 95% CI)), waist circumference (WC) ≥ 80 cm (P = 0.001; OR = 3.68 (1.6807-8.0737, 95% CI)) and family history of diabetes (P = 0.019; OR 1.82 (1.1008-3.0194, 95% CI)), were strongly associated with the presence of metabolic syndrome. The overall prevalence of IR in PCOS women was 30.44% (HOMA-IR cutoff ≥ 3.8) and 34.94% (HOMA-IR cutoff ≥ 3.5). The prevalence of

Hungry Neurons: Metabolic Insights on Seizure Dynamics

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Paolo Bazzigaluppi

2017-10-01

Full Text Available Epilepsy afflicts up to 1.6% of the population and the mechanisms underlying the appearance of seizures are still not understood. In past years, many efforts have been spent trying to understand the mechanisms underlying the excessive and synchronous firing of neurons. Traditionally, attention was pointed towards synaptic (dysfunction and extracellular ionic species (dysregulation. Recently, novel clinical and preclinical studies explored the role of brain metabolism (i.e., glucose utilization of seizures pathophysiology revealing (in most cases reduced metabolism in the inter-ictal period and increased metabolism in the seconds preceding and during the appearance of seizures. In the present review, we summarize the clinical and preclinical observations showing metabolic dysregulation during epileptogenesis, seizure initiation, and termination, and in the inter-ictal period. Recent preclinical studies have shown that 2-Deoxyglucose (2-DG, a glycolysis blocker is a novel therapeutic approach to reduce seizures. Furthermore, we present initial evidence for the effectiveness of 2-DG in arresting 4-Aminopyridine induced neocortical seizures in vivo in the mouse.

Metabolic Reprogramming in Thyroid Carcinoma

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Raquel Guimaraes Coelho

2018-03-01

Full Text Available Among all the adaptations of cancer cells, their ability to change metabolism from the oxidative to the glycolytic phenotype is a hallmark called the Warburg effect. Studies on tumor metabolism show that improved glycolysis and glutaminolysis are necessary to maintain rapid cell proliferation, tumor progression, and resistance to cell death. Thyroid neoplasms are common endocrine tumors that are more prevalent in women and elderly individuals. The incidence of thyroid cancer has increased in the Past decades, and recent findings describing the metabolic profiles of thyroid tumors have emerged. Currently, several drugs are in development or clinical trials that target the altered metabolic pathways of tumors are undergoing. We present a review of the metabolic reprogramming in cancerous thyroid tissues with a focus on the factors that promote enhanced glycolysis and the possible identification of promising metabolic targets in thyroid cancer.

Metabolic Reprogramming in Thyroid Carcinoma

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Coelho, Raquel Guimaraes; Fortunato, Rodrigo S.; Carvalho, Denise P.

2018-01-01

Among all the adaptations of cancer cells, their ability to change metabolism from the oxidative to the glycolytic phenotype is a hallmark called the Warburg effect. Studies on tumor metabolism show that improved glycolysis and glutaminolysis are necessary to maintain rapid cell proliferation, tumor progression, and resistance to cell death. Thyroid neoplasms are common endocrine tumors that are more prevalent in women and elderly individuals. The incidence of thyroid cancer has increased in the Past decades, and recent findings describing the metabolic profiles of thyroid tumors have emerged. Currently, several drugs are in development or clinical trials that target the altered metabolic pathways of tumors are undergoing. We present a review of the metabolic reprogramming in cancerous thyroid tissues with a focus on the factors that promote enhanced glycolysis and the possible identification of promising metabolic targets in thyroid cancer. PMID:29629339

Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era

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Tebani, Abdellah; Abily-Donval, Lenaig; Afonso, Carlos; Marret, Stéphane; Bekri, Soumeya

2016-01-01

Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, early diagnosis is usually mandatory for successful treatment. Given the considerable clinical overlap between some inborn errors, biochemical and molecular tests are crucial in making a diagnosis. Conventional biological diagnosis procedures are based on a time-consuming series of sequential and segmented biochemical tests. The rise of “omic” technologies offers holistic views of the basic molecules that build a biological system at different levels. Metabolomics is the most recent “omic” technology based on biochemical characterization of metabolites and their changes related to genetic and environmental factors. This review addresses the principles underlying metabolomics technologies that allow them to comprehensively assess an individual biochemical profile and their reported applications for IEM investigations in the precision medicine era. PMID:27447622

Serum vitamin D and the metabolic syndrome among osteoporotic postmenopausal female patients of a family practice clinic in Jordan.

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Yasein, Nada; Shroukh, Wejdan; Hijjawi, Razan

2015-01-01

Vitamin D deficiency and insufficiency and the metabolic syndrome are two common health issues worldwide. The association between these two health problems is subject to debate. This study aims to investigate the association between vitamin D deficiency or insufficiency and the metabolic syndrome in a sample of osteoporotic postmenopausal women attending a family practice clinic in Amman-Jordan. This was an observational cross sectional study. It was carried out in the family practice clinic in Jordan University Hospital. The study included all postmenopausal osteoporotic women attending the clinic between June 2011 and May 2012, yielding a total of 326 subjects. The association between metabolic syndrome and serum vitamin D levels was investigated. Waist circumference, body mass index, triglycerides and fasting blood sugar were significantly higher among postmenopausal women with metabolic syndrome, but HDL cholesterol was significantly lower (pmetabolic syndrome among all study participants was 42.9%. Triglycerides and LDL cholesterol were significantly higher among women deficiency or insufficiency (pmetabolic syndrome, the prevalence of vitamin D deficiency or insufficiency was 50.7%. Findings of the current study suggest a lack of relationship between serum vitamin D and metabolic syndrome. However, a significant inverse relationship was found between serum vitamin D levels and both serum triglycerides and LDL levels.

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

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Ka Chandran

2005-06-01

Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

[Asthma and metabolic syndrome: Clinical and pathogenetic relationships].

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Budnevsky, A V; Malysh, E Yu; Ovsyannikov, E S; Drobysheva, E S

2015-01-01

Asthma and metabolic syndrome (MS) are common and social diseases. External and internal factors influencing the development and manifestations of asthma are identified; among which there is obesity that is a major risk factor for MS. Accordingly, the concurrence of asthma and MS and to study their clinical and pathogenetic relationships are a topical problem. There is a tendency to identify a particular asthma phenotype that is characterized by later-onset disease in the presence of obesity; the low prevalence of atopy, low serum level of IgE, and a poorly-controlled course with a trend of standard therapy resistance. It is necessary to understand the essence of asthma cause-effect relationships in the presence of obesity for defining management tactics for this group of patients.

Coffee consumption, metabolic syndrome and clinical severity of psoriasis: good or bad stuff?

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Barrea, Luigi; Muscogiuri, Giovanna; Di Somma, Carolina; Annunziata, Giuseppe; Megna, Matteo; Falco, Andrea; Balato, Anna; Colao, Annamaria; Savastano, Silvia

2018-05-01

Despite the wide consumption of coffee, its anti-inflammatory effect on clinical severity of psoriasis is still debatable. The aim of this study was to evaluate the association between the coffee consumption and clinical severity of psoriasis in a sample of patients stratified according to the presence of the metabolic syndrome (MetS) and smoking. This cross-sectional case-control observational study was conducted on 221 treatment-naïve psoriatic patients. Lifestyle habits, anthropometric measures, clinical and biochemical evaluations were obtained. Clinical severity of psoriasis was assessed by Psoriasis Area and Severity Index (PASI) score. Data on energy caloric intake and coffee consumption were collected using a 7-day food diary record. The coffee consumption was analyzed as coffee intake (consumers and non-consumers) and daily servings (range 0-4 servings/day). Coffee consumers have a lower PASI score vs non-consumers (p < 0.001). The lowest PASI score and MetS prevalence were found in patients consuming 3 cups of coffee/day (p < 0.001), which was also the most common daily serving (34.8%), whereas the highest PASI score was found among those drinking ≥ 4 cups/day. Grouping the case patients according to smoking and MetS, the best odds of PASI score was observed in those drinking 3 cups of coffee per day and no smokers, after adjusting for total energy intake (OR 74.8; p < 0.001). As a novel finding, we reported a negative association between coffee intake, MetS prevalence and clinical severity of psoriasis. The evaluation of the anti-inflammatory effect of coffee on clinical severity of psoriasis, whose metabolic risk increases along with its clinical severity, could be of great importance from a public health perspective.

Metabolic disorders with typical alterations in MRI

International Nuclear Information System (INIS)

Warmuth-Metz, M.

2010-01-01

The classification of metabolic disorders according to the etiology is not practical for neuroradiological purposes because the underlying defect does not uniformly transform into morphological characteristics. Therefore typical MR and clinical features of some easily identifiable metabolic disorders are presented. Canavan disease, Pelizaeus-Merzbacher disease, Alexander disease, X-chromosomal adrenoleukodystrophy and adrenomyeloneuropathy, mitochondrial disorders, such as MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and Leigh syndrome as well as L-2-hydroxyglutaric aciduria are presented. (orig.) [de

Central pontine myelinolysis: clinical presentation and radiologic findings

International Nuclear Information System (INIS)

Laubenberger, J.; Schneider, B.; Ansorge, O.; Goetz, F.; Haeussinger, D.; Volk, B.; Langer, M.

1996-01-01

Central pontine myelinolysis (CPM) is a neurologic disorder once thought to be uniformly fatal. With the introduction of CT and MRI there was an increasing number of reports on nonfatal cases of CPM. Nearly all reports on nonfata cases describe severe clinical syndromes with tetraparesis, bulbar palsy, and coma. We reviewed nine patients with CPM and compared the size of the pontine lesion on MRI and CT with the severity of clinical presentation. Clinical presentation of CPM was highly variable: The symptoms ranged from severe neurologic disorders to mild neurologic disturbances only. Two of nine patients died from CPM. The size of the pontine lesion did not correlate with the severity of the neurologic illness or the final outcome. Mild forms of CPM might be difficult to diagnose clinically. This applies even more for patients with underlying diseases such as Wernicke's encephalopathy, which in itself might cause a clinical picture similar to that of CPM. Central Pontine Myelinolysis is a major differential diagnosis in acute neurologic deterioration indicating pontine damage. Magnetic resonance imaging is the decisive diagnostic tool for CPM. (orig.)

Dynamic bowel obstruction: aetiology, clinical presentation ...

African Journals Online (AJOL)

2005). This makes it essential that studies are made periodically in every region to define the local causes with the idea to do work on their prevention (Adhikari et al., 2010). This study was conducted to describe in our region, the aetiology, clinical presentation, management and outcome of dynamic bowel obstruction.

Dynamic full field OCT: metabolic contrast at subcellular level (Conference Presentation)

Science.gov (United States)

Apelian, Clement; Harms, Fabrice; Thouvenin, Olivier; Boccara, Claude A.

2016-03-01

Cells shape or density is an important marker of tissues pathology. However, individual cells are difficult to observe in thick tissues frequently presenting highly scattering structures such as collagen fibers. Endogenous techniques struggle to image cells in these conditions. Moreover, exogenous contrast agents like dyes, fluorophores or nanoparticles cannot always be used, especially if non-invasive imaging is required. Scatterers motion happening down to the millisecond scale, much faster than the still and highly scattering structures (global motion of the tissue), allowed us to develop a new approach based on the time dependence of the FF-OCT signals. This method reveals hidden cells after a spatiotemporal analysis based on singular value decomposition and wavelet analysis concepts. It does also give us access to local dynamics of imaged scatterers. This dynamic information is linked with the local metabolic activity that drives these scatterers. Our technique can explore subcellular scales with micrometric resolution and dynamics ranging from the millisecond to seconds. By this mean we studied a wide range of tissues, animal and human in both normal and pathological conditions (cancer, ischemia, osmotic shock…) in different organs such as liver, kidney, and brain among others. Different cells, undetectable with FF-OCT, were identified (erythrocytes, hepatocytes…). Different scatterers clusters express different characteristic times and thus can be related to different mechanisms that we identify with metabolic functions. We are confident that the D-FFOCT, by accessing to a new spatiotemporal metabolic contrast, will be a leading technique on tissue imaging and for better medical diagnosis.

Anthropometric, clinical, and metabolic comparisons of the four Rotterdam PCOS phenotypes: A prospective study of PCOS women

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Sujata Kar

2013-01-01

Full Text Available Aims: 1. To study the distribution of various Rotterdam classified phenotypes of polycystic ovarian syndrome (PCOS women, in our population. 2. To compare the four phenotypes with respect to anthropometric, clinical, and metabolic parameters. 3. To report the prevalence of insulin resistance (IR and metabolic syndrome in these women. Settings and Design: Private practice, Prospective cross-sectional comparative study. Materials and Methods: Women attending gynecology outpatient with the primary complains of irregular menses and/or infertility were evaluated. Each of them underwent detailed clinical examination, transvaginal sonography, and biochemical and hormonal assays. Four hundred and ten women with a clinical diagnosis of PCOS based on Rotterdam criteria were included in the study. The four phenotypes were 1 PCO complete, that is oligo/anovulation (O + polycystic ovaries (P + hyperandrogenism (H 2 P + O, 3 P + H, and 4 O + H. All women were also evaluated for metabolic syndrome (American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI, modified Adult Treatment Panel (ATP III 2005 guidelines and IR (homeostatic model assessment-IR (HOMA-IR. Statistical Analysis: Statistical Package for Social Sciences (SPSS version 18. Results: Largest group was PCOS complete (65.6% followed by P + O (22.2%; H + O (11.2%; and P + H (0.9%. Overall prevalence of metabolic syndrome was 35.07%. Hyperandrogenic phenotyptes; H + O (50% and P + H + O (37.04%, had significantly higher prevalence of metabolic syndrome than normoandrogenic P + O phenotype (10% (P ≤ 0.001. Body mass index (BMI ≥ 25 (P = 0.0004; odds ratio (OR = 3.07 (1.6574-5.7108, 95% CI, waist circumference (WC ≥ 80 cm (P = 0.001; OR = 3.68 (1.6807-8.0737, 95% CI and family history of diabetes (P = 0.019; OR 1.82 (1.1008-3.0194, 95% CI, were strongly associated with the presence of metabolic syndrome. The overall prevalence of IR in PCOS women was 30.44% (HOMA-IR cutoff �

Ischaemic memory imaging using metabolic radiopharmaceuticals: overview of clinical settings and ongoing investigations.

Science.gov (United States)

Yoshinaga, Keiichiro; Naya, Masanao; Shiga, Tohru; Suzuki, Eriko; Tamaki, Nagara

2014-02-01

"Ischaemic memory" is defined as a prolonged functional and/or biochemical alteration remaining after a particular episode of severe myocardial ischaemia. The biochemical alteration has been reported as metabolic stunning. Metabolic imaging has been used to detect the footprint left by previous ischaemic episodes evident due to delayed recovery of myocardial metabolism (persistent dominant glucose utilization with suppression of fatty acid oxidation). β-Methyl-p-[(123)I]iodophenylpentadecanoic acid (BMIPP) is a single-photon emission computed tomography (SPECT) radiotracer widely used for metabolic imaging in clinical settings in Japan. In patients with suspected coronary artery disease but no previous myocardial infarction, BMIPP has shown acceptable diagnostic accuracy. In particular, BMIPP plays an important role in the identification of prior ischaemic insult in patients arriving at emergency departments with acute chest pain syndrome. Recent data also show the usefulness of (123)I-BMIPP SPECT for predicting cardiovascular events in patients undergoing haemodialysis. Similarly, SPECT or PET imaging with (18)F-FDG injected during peak exercise or after exercise under fasting conditions shows an increase in FDG uptake in postischaemic areas. This article will overview the roles of ischaemic memory imaging both under established indications and in ongoing investigations.

Ischaemic memory imaging using metabolic radiopharmaceuticals: overview of clinical settings and ongoing investigations

International Nuclear Information System (INIS)

Yoshinaga, Keiichiro; Naya, Masanao; Shiga, Tohru; Suzuki, Eriko; Tamaki, Nagara

2014-01-01

''Ischaemic memory'' is defined as a prolonged functional and/or biochemical alteration remaining after a particular episode of severe myocardial ischaemia. The biochemical alteration has been reported as metabolic stunning. Metabolic imaging has been used to detect the footprint left by previous ischaemic episodes evident due to delayed recovery of myocardial metabolism (persistent dominant glucose utilization with suppression of fatty acid oxidation). β-Methyl-p-[ 123 I]iodophenylpentadecanoic acid (BMIPP) is a single-photon emission computed tomography (SPECT) radiotracer widely used for metabolic imaging in clinical settings in Japan. In patients with suspected coronary artery disease but no previous myocardial infarction, BMIPP has shown acceptable diagnostic accuracy. In particular, BMIPP plays an important role in the identification of prior ischaemic insult in patients arriving at emergency departments with acute chest pain syndrome. Recent data also show the usefulness of 123 I-BMIPP SPECT for predicting cardiovascular events in patients undergoing haemodialysis. Similarly, SPECT or PET imaging with 18 F-FDG injected during peak exercise or after exercise under fasting conditions shows an increase in FDG uptake in postischaemic areas. This article will overview the roles of ischaemic memory imaging both under established indications and in ongoing investigations. (orig.)

The Relation Between Metabolic Syndrome and Testosterone Level

Directory of Open Access Journals (Sweden)

Goel Prashant

2018-03-01

Full Text Available Metabolic syndrome is a group of conditions that increases the risk of developing diabetes and cardiovascular diseases. The most important pathogenic factors for metabolic syndrome are insulin resistance and obesity. The clinical presentation of this syndrome results from its influence on glucose and fat metabolism. Testosterone deficiency has a prevalence of up to 50% in men with metabolic syndrome and type 2 diabetes mellitus. A low level of testosterone is a factor for cardiovascular diseases and predictor of metabolic syndrome and, on the other hand, the components of metabolic syndrome can lead to low testosterone. This article reveals the bidirectional link between low testosterone level or hypogonadism and metabolic syndrome.

The metabolic syndrome: prevalence, CHD risk, and treatment.

Science.gov (United States)

Sarti, Cinzia; Gallagher, John

2006-01-01

An increased risk of coronary heart disease (CHD) morbidity and mortality is associated with the metabolic syndrome, a condition characterized by the concomitant presence of several abnormalities, including abdominal obesity, dyslipidemia, hypertension, insulin resistance (with or without glucose intolerance or diabetes), microalbuminuria, prothrombotic, and proinflammatory states. Estimates of the prevalence of the metabolic syndrome indicate that this condition is now common and likely to increase dramatically over the coming decades, in parallel with greater rates of obesity and Type 2 diabetes. Risk factors for the metabolic syndrome are already present in obese children and adolescents. Thus, identifying and treating all affected individuals promptly and optimally are critical to ensure that this potentially challenging healthcare burden is minimized. Here, we review the prevalence of the metabolic syndrome, dyslipidemias, and CHD risk. Although changes in lifestyle are fundamental to reducing many of the CHD risk factors associated with the metabolic syndrome, pharmacologic interventions also play an important role. Retrospective subanalyses of the effects of statins on coronary event rates and lipid levels in patients with the metabolic syndrome included in clinical trials indicate that these agents are beneficial in correcting the extensive lipid abnormalities that are frequently present in these individuals. However, the optimal management of metabolic syndrome dyslipidemia will depend on the outcomes of future prospective clinical trials. This review examines the underlying causes and prevalence of the metabolic syndrome and its impact on CHD morbidity and mortality and discusses the role of statins in optimizing its management.

Clinical Pharmacology of Phenobarbital in Neonates: Effects, Metabolism and Pharmacokinetics.

Science.gov (United States)

Pacifici, Gian M

2016-01-01

Phenobarbital is an effective and safe anticonvulsant drug introduced in clinical use in 1904. Its mechanism of action is the synaptic inhibition through an action on GABAA. The loading dose of phenobarbital is 20 mg/kg intravenously and the maintenance dose is 3 to 4 mg/kg by mouth. The serum concentration of phenobarbital is up to 40 µg/ml. Nonresponders should receive additional doses of 5 to 10 mg/kg until seizures stop. Infants with refractory seizures may have a serum concentration of phenobarbital of 100 µg/ml. Phenobarbital is metabolized in the liver by CYP2C9 with minor metabolism by CYP2C19 and CYP2E1. A quarter of the dose of phenobarbital is excreted unchanged in the urine. In adults, the half-life of phenobarbital is 100 hours and in term and preterm infants is 103 and 141 hours, respectively. The half-life of phenobarbital decreases 4.6 hours per day and it is 67 hours in infants 4 week old.

Clinical Presentation of Epilepsy among Adult Sudanese Epileptic ...

African Journals Online (AJOL)

Objective: To study the pattern of clinical presentation of epilepsy among adult Sudanese epileptic patients. Methods: 120 patients with epilepsy were included in a prospective cross-sectional study. Setting: The study was conducted at Sheik Mohamed Kheir Friday Epileptic Clinic .Duration: May 2003 Oct 2006. Results: ...

A Supernumerary Nipple-Like Clinical Presentation of Lymphangioma Circumscriptum.

Science.gov (United States)

Taylor, Dustin; Kash, Natalie; Silapunt, Sirunya

2018-01-01

Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults. We report a case of lymphangioma circumscriptum on the left inframammary area of an African American female with an unusual supernumerary nipple-like clinical presentation. Our patient presented with a firm, smooth, hypopigmented papule, and the clinical diagnosis of keloid was made initially. However, she returned reporting growth of the lesion and was noted to have a firm, exophytic, lobulated, pink to skin-colored nodule. Histopathological examination demonstrated dilated lymphatic vessels, consistent with the diagnosis of lymphangioma. The presentation as a firm, hypopigmented papule and later exophytic, lobulated, skin-colored nodule in our case represents a clinical presentation of lymphangioma circumscriptum not previously described in the literature. Correct diagnosis in lymphangioma circumscriptum is vital, as recurrence following surgical resection and secondary development of lymphangiosarcoma and squamous cell carcinoma following treatment with radiation have been reported. Thus, it is important to consider lymphangioma circumscriptum in the differential of similar lesions in the future to allow appropriate diagnosis, treatment, and monitoring.

Clinical trials in nuclear medicine: Present and future

International Nuclear Information System (INIS)

Chaumet-Riffaud, P.; Cachin, F.; Couturier, O.; Desruet, M.D.; Kraeber-Bodere, F.; Talbot, J.N.; Vuillez, J.P.

2009-01-01

The particular status of radiopharmaceuticals, together with the positioning of nuclear medicine in multidisciplinary approach of oncology, lead to real difficulties for conception, validation and granting of clinical trials which are necessary for demonstrating clinical interest of new compounds, for diagnosis as well as for therapeutic use. This article is a presentation of some recent clinical trials conducted in nuclear medicine in France, showing its dynamism but also pointing out some encountered difficulties. These experiences could lead to reflexion in order to improve the clinical research performances, taking into account a scientific and regulatory context more and more constraining. (authors)

Clinical and economic analysis of the modern strategies for treating metabolic syndrome

Directory of Open Access Journals (Sweden)

Marina Fedorovna Kalashnikova

2014-04-01

Full Text Available ObjectiveThe objective of this study was to identify the ways to optimize therapy for metabolic syndrome through complex clinical and economic analysis.MethodsSixty patients with metabolic syndrome were included in the study. The study group (30 subjects with the mean age of 41.0±11 years, 23 females (76.7%, 7 males (23.3% received pharmacotherapy for obesity (orlistat and insulin resistance (metformin, lipid-lowering therapy and antihypertensive therapy, if needed. The control group (30 patients with the mean age of 43.4±9.5 years, 26 females (86.7%, 4 males (13.3% received lipid-lowering and antihypertensive therapy, if needed. All patients underwent clinical and laboratory examination, assessment of depression (Beck Depression Inventory and evaluation of the quality of life using the SF-36 questionnaire at admission to the study and after 6 months of therapy. Complex clinical and economic analyses, including cost-effectiveness and cost-utility analyses and calculation of such indices as “the incremental cost-effectiveness ratio” (ICER, LYG, QALY and “net monetary benefit” (NMB, were conducted based on the results obtained.ResultsImprovement of clinical and laboratory indicators and quality of life in the study group was more significant than that in the control group. The direct medical costs were 33,440.40 RUB for the study group and 18,878.50 RUB for the control group (for 6 months of therapy. The control group CER was 4,016.70, while the study group CER was 3,125.30; ICER was 2,430.90 RUB. LYG was equal to 0.7 and 2.3 years for the control and the study groups, respectively. The QALY measure for the control and study groups was 8.63 and 9.45, respectively. The weighted average total costs for the intended period of living was 498,745.00 RUB for the control group and 457,866.00 RUB for the study group. The control group CUR was 57,792.00 and 54,902.00 RUB/QALY without and with discounting, respectively, while in the study group

Clinical and economic analysis of the modern strategies for treating metabolic syndrome

Directory of Open Access Journals (Sweden)

Marina Fedorovna Kalashnikova

2014-04-01

Full Text Available Objective. The objective of this study was to identify the ways to optimize therapy for metabolic syndrome through complex clinical and economic analysis. Methods. Sixty patients with metabolic syndrome were included in the study. The study group (30 subjects with the mean age of 41.0?11 years, 23 females (76.7%, 7 males (23.3% received pharmacotherapy for obesity (orlistat and insulin resistance (metformin, lipid-lowering therapy and antihypertensive therapy, if needed. The control group (30 patients with the mean age of 43.4?9.5 years, 26 females (86.7%, 4 males (13.3% received lipid-lowering and antihypertensive therapy, if needed. All patients underwent clinical and laboratory examination, assessment of depression (Beck Depression Inventory and evaluation of the quality of life using the SF-36 questionnaire at admission to the study and after 6 months of therapy. Complex clinical and economic analyses, including cost-effectiveness and cost-utility analyses and calculation of such indices as ?the incremental cost-effectiveness ratio? (ICER, LYG, QALY and ?net monetary benefit? (NMB, were conducted based on the results obtained. Results. Improvement of clinical and laboratory indicators and quality of life in the study group was more significant than that in the control group. The direct medical costs were 33,440.40 RUB for the study group and 18,878.50 RUB for the control group (for 6 months of therapy. The control group CER was 4,016.70, while the study group CER was 3,125.30; ICER was 2,430.90 RUB. LYG was equal to 0.7 and 2.3 years for the control and the study groups, respectively. The QALY measure for the control and study groups was 8.63 and 9.45, respectively. The weighted average total costs for the intended period of living was 498,745.00 RUB for the control group and 457,866.00 RUB for the study group. The control group CUR was 57,792.00 and 54,902.00 RUB/QALY without and with discounting, respectively, while in the study group they

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

NARCIS (Netherlands)

Assmann, Birgit E.; van Kuilenburg, Andre B. P.; Distelmaier, Felix; Abeling, Nico G. G. M.; Rosenbaum, Thorsten; Schaper, Jörg; Duran, Marinus; Mayatepek, Ertan

2006-01-01

Beta-ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented at the age of 4 months after an ALTE-like event (ALTE =

Mounier-Kuhn syndrome: radiological findings and clinical presentation

Energy Technology Data Exchange (ETDEWEB)

Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: andblima@yahoo.com.b [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia

2011-05-15

Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

Clinical presentation of nasopharyngeal carcinoma in Sarawak Malaysia.

Science.gov (United States)

Tiong, T S; Selva, K S

2005-12-01

Nasopharyngeal carcinoma (NPC) is a common cancer in Malaysia. The clinical presentation in Sarawak has not been well documented. A retrospective review of 213 selected NPC cases was undertaken on the clinical records in Sarawak General Hospital, Sarawak, from June 1999 to June 2003. There were 116 patients in Kuching and 97 in Serian. There were twice as many males as females. The youngest patient was 16 and the oldest 88 years old with a mean age of 51 years. The four most common symptoms in order of frequencies were cervical lymphadenopathy, epistaxis, hearing loss and diplopia. 80.8% of the patients presented with cervical lymphadenopathy and about 85% of the patients presented in the advanced stages. Very small percentages of the patients were found to have single presenting symptoms of epistaxis (2.4%) and hearing loss (0.5%).

Ischaemic memory imaging using metabolic radiopharmaceuticals: overview of clinical settings and ongoing investigations

Energy Technology Data Exchange (ETDEWEB)

Yoshinaga, Keiichiro [Hokkaido University Graduate School of Medicine, Department of Molecular Imaging, Sapporo (Japan); Naya, Masanao [Hokkaido University Graduate School of Medicine, Department of Cardiology, Sapporo (Japan); Shiga, Tohru; Suzuki, Eriko; Tamaki, Nagara [Hokkaido University Graduate School of Medicine, Department of Nuclear Medicine, Sapporo (Japan)

2014-02-15

''Ischaemic memory'' is defined as a prolonged functional and/or biochemical alteration remaining after a particular episode of severe myocardial ischaemia. The biochemical alteration has been reported as metabolic stunning. Metabolic imaging has been used to detect the footprint left by previous ischaemic episodes evident due to delayed recovery of myocardial metabolism (persistent dominant glucose utilization with suppression of fatty acid oxidation). β-Methyl-p-[{sup 123}I]iodophenylpentadecanoic acid (BMIPP) is a single-photon emission computed tomography (SPECT) radiotracer widely used for metabolic imaging in clinical settings in Japan. In patients with suspected coronary artery disease but no previous myocardial infarction, BMIPP has shown acceptable diagnostic accuracy. In particular, BMIPP plays an important role in the identification of prior ischaemic insult in patients arriving at emergency departments with acute chest pain syndrome. Recent data also show the usefulness of {sup 123}I-BMIPP SPECT for predicting cardiovascular events in patients undergoing haemodialysis. Similarly, SPECT or PET imaging with {sup 18}F-FDG injected during peak exercise or after exercise under fasting conditions shows an increase in FDG uptake in postischaemic areas. This article will overview the roles of ischaemic memory imaging both under established indications and in ongoing investigations. (orig.)

Metabolic Correction in the Management of Diabetic Peripheral Neuropathy: Improving Clinical Results Beyond Symptom Control

Science.gov (United States)

Miranda-Massari, Jorge R.; Gonzalez, Michael J.; Jimenez, Francisco J.; Allende-Vigo, Myriam Z.; Duconge, Jorge

2013-01-01

Current Clinical Management Guidelines of Diabetic Peripheral Neuropathy (DPN) are based on adequate glucose control and symptomatic pain relief. However, meticulous glycemic control could delay the onset or slow the progression of diabetic neuropathy in patients with DM type 2, but it does not completely prevent the progression of the disease. Complications of DPN as it continues its natural course, produce increasing pain and discomfort, loss of sensation, ulcers, infections, amputations and even death. In addition to the increased suffering, disability and loss of productivity, there is a very significant economic impact related to the treatment of DPN and its complications. In USA alone, it has been estimated that there are more than 5,000,000 patients suffering from DPN and the total annual cost of treating the disease and its complications is over $10,000 million dollars. In order to be able to reduce complications of DPN, it is crucial to improve or correct the metabolic conditions that lead to the pathology present in this condition. Pathophysiologic mechanisms implicated in diabetic neuropathy include: increased polyol pathway with accumulation of sorbitol and reduced Na+/K+-ATPase activity, microvascular damage and hypoxia due to nitric oxide deficit and increased oxygen free radical activity. Moreover, there is a decrease in glutathione and increase in homocysteine. Clinical trials in the last two decades have demonstrated that the use of specific nutrients can correct some of these metabolic derangements, improving symptom control and providing further benefits such as improved sensorium, blood flow and nerve regeneration. We will discuss the evidence on lipoic acid, acetyi-L-carnitine, benfotiamine and the combination of active B vitamins L-methylfolate, methylcobalamin and piridoxal-6-phosphate. In addition, we discuss the role of metforrnin, an important drug in the management of diabetes, and the presence of specific polymorphic genes, in the risk

The varied clinical presentations of major depressive disorder.

Science.gov (United States)

Rush, A John

2007-01-01

DSM-IV major depressive disorder (MDD) is a clinical syndrome notable for heterogeneity of its clinical presentation, genetics, neurobiology, clinical course, and treatment responsiveness. In an attempt to make sense of this heterogeneity, clinicians and researchers have proposed a number of MDD "subtypes" based on differences in characteristic symptoms (e.g., atypical, melancholic, psychotic), onset (e.g., early vs. late, post-partum, seasonal), course of illness (e.g., single vs. recurrent, chronic, double), and severity. This article provides a brief review of the status of several of the most common subtypes in terms of their clinical features, biological correlates, course of illness, and treatment implications.

Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

Science.gov (United States)

Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

2013-04-01

Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

Proposed ICDRG Classification of the Clinical Presentation of Contact Allergy

DEFF Research Database (Denmark)

Pongpairoj, Korbkarn; Ale, Iris; Andersen, Klaus Ejner

2016-01-01

The International Contact Dermatitis Research Group proposes a classification for the clinical presentation of contact allergy. The classification is based primarily on the mode of clinical presentation. The categories are direct exposure/contact dermatitis, mimicking or exacerbation of preexisting....../mucosal symptoms, oral contact dermatitis, erythroderma/exfoliative dermatitis, minor forms of presentation, and extracutaneous manifestations....

Colonic duplications: Clinical presentation and radiologic features of five cases

International Nuclear Information System (INIS)

Blickman, J.G.; Rieu, P.H.M.; Buonomo, C.; Hoogeveen, Y.L.; Boetes, C.

2006-01-01

Diagnosis of colonic duplication can pose a potential problem even for those familiar with gastro-intestinal tract duplications in general but unaware of the condition due to its rarity and its apparently bimodal clinical presentation. In this report of five cases of surgically proven pediatric colonic duplication, we illustrate how the condition manifests clinically and describe the imaging features in an attempt to illustrate this bimodal presentation of the condition. The possible etiology, associated congenital anomalies and modes of clinical presentation are reviewed based on literature review as well as on our own experience

Emergency Department Referrals for Adolescent Urgent Psychiatric Consultation: Comparison of Clinical Characteristics of Repeat-presentations and Single-presentation.

Science.gov (United States)

Roberts, Nasreen; Nesdole, Robert; Hu, Tina

2018-01-01

a) to examine the demographic and clinical characteristics of repeat-presentations to an adolescent urgent psychiatric clinic, and b) to compare them with single-time presentation. This 18-month retrospective study compared repeat-presenters to age and gender matched single-time presenters. Demographic variables included age gender and ethnicity. Clinical variables included reason for referral, family history, diagnosis, recommendations and compliance. Data were analyzed using descriptive statistics, McNemar's Chi-square tests for matched pairs, and conditional logistic regression. Of 624 assessments 24% (N=151) were repeat-presentations. Compared with single-presentation, repeat-presentation group had a higher proportion of Aboriginal youth (X2 (1) = 108.28 p presentation group had higher odds of past hospital admission (OR: 3.50, p presentations for urgent psychiatric consultation constitute a quarter of referrals to the urgent psychiatric clinic. Identifying and addressing factors that contribute to repeat-presentations may, assist in improving treatment compliance by ensuring focused interventions and service delivery for these youth. In turn, this will improve access to the limited urgent services for other youth.

Developing a "clinical presentation" curriculum at the University of Calgary.

Science.gov (United States)

Mandin, H; Harasym, P; Eagle, C; Watanabe, M

1995-03-01

Currently, medical curricula are structured according to disciplines, body systems, or clinical problems. Beginning in 1988, the faculty of the University of Calgary Faculty of Medicine (U of C) carefully evaluated the advantages and disadvantages of each of these models in seeking to revise their school's curriculum. However, all three models fell short of a curricular structure based on current knowledge and principles of adult learning, clinical problem solving, community demands, and curriculum management. By 1991, the U of C had formulated a strategic plan for a revised curriculum structure based on the way patients present to physicians, and implementation of this plan has begun. In creating the new curriculum, 120 clinical presentations (e.g., "loss of consciousness/syncope") were defined and each was assigned to an individual or small group of faculty for development based on faculty expertise and interest. Terminal objectives (i.e., "what to do") were defined for each presentation to describe the appropriate clinical behaviors of a graduating physician. Experts developed schemes that outlined how they differentiated one cause (i.e., disease category) from another. The underlying enabling objectives (i.e., knowledge, skills, and attitudes) for reaching the terminal objectives for each clinical presentation were assigned as departmental responsibilities. A new administrative structure evolved in which there is a partnership between a centralized multidisciplinary curriculum committee and the departments. This new competency-based, clinical presentation curriculum is expected to significantly enhance students' development of clinical problem-solving skills and affirms the premise that prudent, continuous updating is essential for improving the quality of medical education.

Clinical Presentation of Ulcerative Colitis in Pakistani Adults.

Science.gov (United States)

Qureshi, Mustafa; Abbas, Zaigham

2015-01-01

The aim of this study was to determine the clinical presentation and severity of ulcerative colitis (UC) in Pakistani adult patients. An observational study. Data were obtained by reviewing the medical records of patients who visited a gastroenterology clinic between 2008 and 2012. There were 54 patients diagnosed as UC. The male to female ratio was 1:1. Mean age at diagnosis of UC was 38.7 ± 11.8 years (median 36.5, range 18-64). The predominant presenting symptoms were mucus diarrhea in 49 (90.7%), gross blood in stools in 42 (77.8%), abdominal pain or cramps in 40 (74.1%) and weight loss in 15 (27.7%). Left-sided colitis was present in 23 (42.6%), pancolitis in 15 (27.8%), extensive colitis in 11 (20.4%), and proctitis in five (9.2%). The severity of UC as judged by the Mayo scoring system showed that 68.5% were suffering from moderate to severe disease while 31.5% had mild disease. The extra-intestinal manifestation were found only in seven patients; arthritis in five patients and anterior uveitis in two patients. The arthritis was unilateral and the sites were knee joint in three patients and sacroiliac joint in two patients. Ulcerative colitis presents in our adult patients may present at any age with no gender preponderance. The disease severity is moderate to severe in the majority of patients and more than half of them have left-sided colitis or pancolitis at the time of presentation. Extraintestinal manifestations were not common. Qureshi M, Abbas Z. Clinical Presentation of Ulcerative Colitis in Pakistani Adults. Euroasian J Hepato-Gastroenterol 2015;5(2):127-130.

A diagnostic algorithm for metabolic myopathies.

Science.gov (United States)

Berardo, Andres; DiMauro, Salvatore; Hirano, Michio

2010-03-01

Metabolic myopathies comprise a clinically and etiologically diverse group of disorders caused by defects in cellular energy metabolism, including the breakdown of carbohydrates and fatty acids to generate adenosine triphosphate, predominantly through mitochondrial oxidative phosphorylation. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders due to respiratory chain impairment. The wide clinical spectrum of metabolic myopathies ranges from severe infantile-onset multisystemic diseases to adult-onset isolated myopathies with exertional cramps. Diagnosing these diverse disorders often is challenging because clinical features such as recurrent myoglobinuria and exercise intolerance are common to all three types of metabolic myopathy. Nevertheless, distinct clinical manifestations are important to recognize as they can guide diagnostic testing and lead to the correct diagnosis. This article briefly reviews general clinical aspects of metabolic myopathies and highlights approaches to diagnosing the relatively more frequent subtypes (Fig. 1). Fig. 1 Clinical algorithm for patients with exercise intolerance in whom a metabolic myopathy is suspected. CK-creatine kinase; COX-cytochrome c oxidase; CPT-carnitine palmitoyl transferase; cyt b-cytochrome b; mtDNA-mitochondrial DNA; nDNA-nuclear DNA; PFK-phosphofructokinase; PGAM-phosphoglycerate mutase; PGK-phosphoglycerate kinase; PPL-myophosphorylase; RRF-ragged red fibers; TFP-trifunctional protein deficiency; VLCAD-very long-chain acyl-coenzyme A dehydrogenase.

Diabetic polyneuropathy: pathogenesis, classification, clinical presentation, and treatment

Directory of Open Access Journals (Sweden)

Marina Valentinovna Nesterova

2013-01-01

Full Text Available Diabetes mellitus (DM is a global epidemic followed by late complications as diabetic polyneuropathy (DPN and diabetic foot syndrome, leading to appreciable social and economic consequences. Virtually all patients with DM develop DPN in different periods. There is a clear correlation between the presence and magnitude of painful DPN and the duration of DM and the level of glycosylated hemoglobin and the severity of DPN. In spite of the abundance of theories of the development of DPN, its main identified pathogenetic factor is hyperglycemia. The literature gives no universal classification due to the variability of clinical symptoms. The main goals of treatment are to affect the pathogenesis of the disease and to prescribe symptomatic medications. The pathogenetic treatment of DPN includes compensation for carbohydrate metabolism and use of neurometabolic drugs. Pain from DPN may be controlled with antidepressants, anticonvulsants, local anesthetics and opioid analgesics. Although much evidence for the pathogenesis of peripheral nervous system injury has been recently accumulated, a universal standard for the effective therapy of DPN and the follow-up of these patients has not yet been developed.

[Multi-facetted clinical presentation of thrombotic thrombocytopenic purpura

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Niemann, C.U.; Jurlander, J.; Daugaard, G.

2009-01-01

smears. Determination of the ADAMTS13-activity is now becoming available as a routine analysis. We present two cases that illustrate the multi-facetted clinical presentation under which TTP occurs. The importance of access to ADAMTS13 measurements is stressed Udgivelsesdato: 2009/1/26...

[Metabolic acidosis].

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Regolisti, Giuseppe; Fani, Filippo; Antoniotti, Riccardo; Castellano, Giuseppe; Cremaschi, Elena; Greco, Paolo; Parenti, Elisabetta; Morabito, Santo; Sabatino, Alice; Fiaccadori, Enrico

2016-01-01

Metabolic acidosis is frequently observed in clinical practice, especially among critically ill patients and/or in the course of renal failure. Complex mechanisms are involved, in most cases identifiable by medical history, pathophysiology-based diagnostic reasoning and measure of some key acid-base parameters that are easily available or calculable. On this basis the bedside differential diagnosis of metabolic acidosis should be started from the identification of the two main subtypes of metabolic acidosis: the high anion gap metabolic acidosis and the normal anion gap (or hyperchloremic) metabolic acidosis. Metabolic acidosis, especially in its acute forms with elevated anion gap such as is the case of lactic acidosis, diabetic and acute intoxications, may significantly affect metabolic body homeostasis and patients hemodynamic status, setting the stage for true medical emergencies. The therapeutic approach should be first aimed at early correction of concurrent clinical problems (e.g. fluids and hemodynamic optimization in case of shock, mechanical ventilation in case of concomitant respiratory failure, hemodialysis for acute intoxications etc.), in parallel to the formulation of a diagnosis. In case of severe acidosis, the administration of alkalizing agents should be carefully evaluated, taking into account the risk of side effects, as well as the potential need of renal replacement therapy.

Congenic tuberculosis. Presentation of clinical case

International Nuclear Information System (INIS)

David Calabria, Milena; Ojeda Leon, Paulina

2004-01-01

We are presenting the case of less than to 2 month old and premature infant, she had hyaline membrane disease and required mechanical ventilation during 6 days, at the first month. She presented a viral rhinopharyngitis symptomatology, perioral cyanosis with apnoea, and respiratory distress, the chest x-ray showed multiple bilateral hyperlucid images, mainly at the right side afterwards the patient presented intermittent fever of long evolution and initially received treatment for cavitary bronchopneumonia and sequel of mechanical ventilation, receiving multiple antimicrobial antibiotics, the mother had intermittent fevers since the sixth month of pregnancy and was hospitalized for suspected endometritis after delivery, she presented clinical impairment which evolved to sepsis and died in the ICU, the endometrial histopathology showed granulomas suggesting tuberculosis, due to long history of fevers in the baby and the genital tuberculosis in the mother a tuberculosis study was performed in the girl which resulted positive

Comparison between a pediatric health promotion center and a pediatric obesity clinic in detecting metabolic syndrome and non-alcoholic fatty liver disease in children.

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Yang, Hye Ran; Yi, Dae Yong; Choi, Hyoung Soo

2014-12-01

This study was done to evaluate the efficacy of health check-ups in children in detecting metabolic syndrome and non-alcoholic fatty liver disease (NAFLD) by comparing the pediatric health promotion center with the pediatric obesity clinic. Children who visited a pediatric health promotion center (n=218) or a pediatric obesity clinic (n=178) were included. Anthropometric data, blood pressure, laboratory tests, and abdominal ultrasonography were evaluated. Two different criteria were applied to diagnose metabolic syndrome. The prevalence of metabolic syndrome in the 2 units was 3.2%-3.7% in a pediatric health promotion center and 23%-33.2% in a pediatric obesity clinic. Significant differences were observed in the prevalence of each component of metabolic syndrome between the 2 units including abdominal adiposity, blood pressure, serum triglycerides, and fasting blood glucose (Pobesity clinic targeting obese children than that among patients visiting the health promotion center offering routine check-ups. An obesity-oriented approach is required to prevent obesity-related health problems in children.

Clinical features of male patients with alcoholic liver cirrhosis or hepatitis B cirrhosis complicated by abnormal glucose metabolism

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CHEN Qidan

2016-02-01

Full Text Available ObjectiveTo investigate the clinical features of male patients with alcoholic liver cirrhosis (ALC or hepatitis B cirrhosis (HBC complicated by abnormal glucose metabolism. MethodsA total of 287 patients with liver cirrhosis who were admitted to Guangzhou Panyu Central Hospital from January 2008 to September 2013 were selected. Among these patients, 74 had ALC and were all male, including 54 with abnormal glucose metabolism; the other 213 had HBC, including 97 with abnormal glucose metabolism (69 male patients and 28 female patients. A controlled study was performed for the clinical data of ALC and HBC patients with abnormal glucose metabolism, to investigate the association of patients′ clinical manifestations with the indices for laboratory examination, insulin resistance index, incidence rate of abnormal glucose metabolism, and Child-Pugh class. The t-test was applied for comparison of continuous data between groups, the chi-square test was applied for comparison of categorical data between groups, and the Spearman rank correlation was applied for correlation analysis. ResultsCompared with HBC patients, ALC patients had significantly higher incidence rates of abnormal glucose metabolism (730% vs 32.4%, hepatogenous diabetes (35.1% vs 14.6%, fasting hypoglycemia (27.0% vs 10.3%, and impaired glucose tolerance (31.1% vs 14.1% (χ2=4.371, 3.274, 4.784, and 1.633, all P＜0.05. The Spearman correlation analysis showed that in ALC and HBC patients, the incidence rate of abnormal glucose metabolism was positively correlated with Child-Pugh class (rs=0.41, P＜005. Compared with the HBC patients with abnormal glucose metabolism, the ALC patients with abnormal glucose metabolism had a significantly higher incidence rate of Child-Pugh class A (χ2=7.520, P=0.001, and a significantly lower incidence rate of Child-Pugh class C (χ2=6.542, P=0.003. There were significant differences in the incidence rates of dim complexion, telangiectasia of the

Outreach visits by clinical pharmacists improve screening for the metabolic syndrome among mentally ill patients

DEFF Research Database (Denmark)

Kjeldsen, Lene Juel; Hansen, Per Sveistrup; Kristensen, Anne Mette Fisker

2013-01-01

by clinical pharmacists to support the implementation of screening of MeS at a psychiatric ward. Methods: The study was conducted at the psychiatric ward, Odense University Hospital. In 2008, clinical guidelines for systematic screening and prevention of metabolic risk were developed and implemented...... by passive dissemination (PD) followed by a period of active implementation (AI). AI contained outreach visits by clinical pharmacists on a weekly basis. Patients with affective disorder or schizophrenia were included. The study was designed as a before-and-after study, and electronic patient charts were...... pharmacists significantly improved the use of the screening sheet...

Severe acute malnutrition in childhood: hormonal and metabolic status at presentation, response to treatment, and predictors of mortality.

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Bartz, Sarah; Mody, Aaloke; Hornik, Christoph; Bain, James; Muehlbauer, Michael; Kiyimba, Tonny; Kiboneka, Elizabeth; Stevens, Robert; Bartlett, John; St Peter, John V; Newgard, Christopher B; Freemark, Michael

2014-06-01

Malnutrition is a major cause of childhood morbidity and mortality. To identify and target those at highest risk, there is a critical need to characterize biomarkers that predict complications prior to and during treatment. We used targeted and nontargeted metabolomic analysis to characterize changes in a broad array of hormones, cytokines, growth factors, and metabolites during treatment of severe childhood malnutrition. Children aged 6 months to 5 years were studied at presentation to Mulago Hospital and during inpatient therapy with milk-based formulas and outpatient supplementation with ready-to-use food. We assessed the relationship between baseline hormone and metabolite levels and subsequent mortality. Seventy-seven patients were enrolled in the study; a subset was followed up from inpatient treatment to the outpatient clinic. Inpatient and outpatient therapies increased weight/height z scores and induced striking changes in the levels of fatty acids, amino acids, acylcarnitines, inflammatory cytokines, and various hormones including leptin, insulin, GH, ghrelin, cortisol, IGF-I, glucagon-like peptide-1, and peptide YY. A total of 12.2% of the patients died during hospitalization; the major biochemical factor predicting mortality was a low level of leptin (P = .0002), a marker of adipose tissue reserve and a critical modulator of immune function. We have used metabolomic analysis to provide a comprehensive hormonal and metabolic profile of severely malnourished children at presentation and during nutritional rehabilitation. Our findings suggest that fatty acid metabolism plays a central role in the adaptation to acute malnutrition and that low levels of the adipose tissue hormone leptin associate with, and may predict, mortality prior to and during treatment.

Clinical Features and Pattern of Presentation of Breast Diseases in ...

African Journals Online (AJOL)

Objective: To characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected by two surgeons using the ...

CLINICAL AND IMMUNO-METABOLIC PECULIARITIES OF THE PRIMARY ATTACK OF ACUTE LYMPHOBLASTIC LEUKEMIA

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Olga Valentinovna Smirnova

2017-12-01

Full Text Available The authors studied the characteristics of the clinical condition, cellular, humoral immunity and metabolism of lymphocytes in patients with acute lymphoblastic leukemia at the onset of the disease, with the primary attack. The disease usually begins with the combined symptoms appearance in the clinical picture. Fever, fatigue, decreased performance, dizziness, the accompanying infection process were recorded in most patients. Reduction of T-lymphocytes and a decrease in the ratio of CD4+ to CD8+ contributed to the debut appearance of ALL and T-cell immunodeficiency development. Changed metabolomics of energy, plastic processes in lymphocytes. The authors proposed an immunometabolic own concept of the disease.

Correlation between the clinical presentation and DSA of intracranial aneurysms

International Nuclear Information System (INIS)

Fang Chun; Hua Jia; Chen Kemin; Yin Yan; Ge Xin; Ying Yiping

2001-01-01

Objective: To evaluate the correlation between the clinical presentation and cerebral angiographic features of intracranial aneurysms. Methods: The authors retrospectively analyzed the relationship between the size, location and shape of 48 patient's cerebral aneurysms and their clinical presentations. Results: Clinical symptoms of cerebral aneurysms were related with their size, location and shape. Aneurysms in different location or at same location may cause similar symptoms or different symptoms. Rotation DSA is a useful examination supplemented to conventional DSA. Conclusions: The relationship between the location and the presentation of intracranial aneurysms is not specific. Rotation DSA plays important role in showing the characteristics of the cerebral aneurysms

Clinical study on the prevalence and comparative analysis of metabolic syndrome and its components among Chinese breast cancer women and control population.

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Wu, Yu-Tuan; Luo, Qing-Qing; Li, Xin; Arshad, Bilal; Xu, Zhou; Ran, Liang; Zhao, Chun-Xia; Wu, He; Shi, Yan-Ling; Chen, Hao-Ran; Li, Hao; Li, Hong-Yuan; Wu, Kai-Nan; Kong, Ling-Quan

2018-01-01

Metabolic syndrome has been previously identified as a risk factor for breast cancer and is increasingly a public health concern. This study aims to investigate the prevalence of metabolic syndrome and its components among primary breast cancer and control population. The clinical data of metabolic syndrome and its components in the breast cancer (605 cases) and control population (3212 cases), from Breast Cancer Center and Physical Examination Center of Chongqing, China, from July 2015 to February 2017, were collected for comparative analysis. This study was prospectively registered in Chinese Clinical Trial Registry (http://www.chictr.org.cn/, number: ChiCTR-OOB-15007543). The prevalence of metabolic syndrome in breast cancer (32.6%) was obviously higher than that in control population (18.2%) (pmetabolic syndrome in breast cancer group aged below 60 years (24.9%, pmetabolic syndrome and its components in Chinese breast cancer women, and metabolic syndrome is closely related with breast cancer. Therefore, screening and prevention strategy of metabolic syndrome should be carried out in the management of breast cancer.

Full investigation of patients with polycystic ovary syndrome (PCOS) presenting to four different clinical specialties reveals significant differences and undiagnosed morbidity.

Science.gov (United States)

Sivayoganathan, Dhakshana; Maruthini, Deivanayagam; Glanville, Julie M; Balen, Adam H

2011-12-01

This study aimed to compare the spectrum of polycystic ovary syndrome (PCOS) symptoms in patients from four different specialist clinics. A prospective cross-sectional observational study. The study was conducted at the infertility, gynaecology, endocrine and dermatology clinics at Leeds General Infirmary, U.K. Seventy women presenting with features of PCOS: 20 from infertility, 17 from gynaecology, 17 from dermatology and 16 from endocrine clinics. Participants were assessed for symptoms and signs of PCOS and underwent a full endocrine and metabolic profile and a pelvic ultrasound scan. All subjects had experienced menstrual problems, 81% were overweight, 86% had polycystic ovaries on ultrasound, 56% had hirsutism, 53% had acne, 23% had acanthosis nigricans, 16% had alopecia and 38% had previously undiagnosed impaired glucose tolerance (IGT) or diabetes. A significant difference between the four clinic groups existed with regard to menstrual patterns (p = 0.0234), frequency distribution of presenting symptoms and the percentages of patients with PCOS who had already been diagnosed as having PCOS (p = 0.0088). This study emphasizes the importance of understanding the full spectrum of PCOS as presented to different specialty clinics. Not only is the syndrome under diagnosed but also are the significant associated morbidities such as IGT and type 2 diabetes. Different specialists need to appreciate the spectrum of health problems for women with PCOS that may extend beyond the specific symptoms that precipitated the initial referral.

White fish reduces cardiovascular risk factors in patients with metabolic syndrome: the WISH-CARE study, a multicenter randomized clinical trial.

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Vázquez, C; Botella-Carretero, J I; Corella, D; Fiol, M; Lage, M; Lurbe, E; Richart, C; Fernández-Real, J M; Fuentes, F; Ordóñez, A; de Cos, A I; Salas-Salvadó, J; Burguera, B; Estruch, R; Ros, E; Pastor, O; Casanueva, F F

2014-03-01

Reduction of cardiovascular risk with high consumption of fish in diet is still a matter of debate, and concerns about heavy metal contamination have limited consumption of oily fish. We aimed to evaluate the effect of regular ingestion of white fish on cardiovascular risk factors in patients with metabolic syndrome. Multicenter randomized crossover clinical trial including 273 individuals with metabolic syndrome. An 8-week only-one dietary intervention: 100 g/d of white fish (Namibia hake) with advice on a healthy diet, compared with no fish or seafood with advice on a healthy diet. Outcomes were lipid profile, individual components of the metabolic syndrome, serum insulin concentrations, homeostasis model of insulin resistance, serum C-reactive protein and serum fatty acid levels. We found a significant lowering effect of the intervention with white fish on waist circumference (P rise (P syndrome, regular consumption of hake reduces LDL cholesterol concentrations, waist circumference and blood pressure components of the metabolic syndrome. White Fish for Cardiovascular Risk Factors in Patients with Metabolic Syndrome Study, Registered under ClinicalTrials.gov Identifier: NCT01758601. Copyright © 2013 Elsevier B.V. All rights reserved.

Clinical linguistics: its past, present and future.

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Perkins, Michael R

2011-11-01

Historiography is a growing area of research within the discipline of linguistics, but so far the subfield of clinical linguistics has received virtually no systematic attention. This article attempts to rectify this by tracing the development of the discipline from its pre-scientific days up to the present time. As part of this, I include the results of a survey of articles published in Clinical Linguistics & Phonetics between 1987 and 2008 which shows, for example, a consistent primary focus on phonetics and phonology at the expense of grammar, semantics and pragmatics. I also trace the gradual broadening of the discipline from its roots in structural linguistics to its current reciprocal relationship with speech and language pathology and a range of other academic disciplines. Finally, I consider the scope of clinical linguistic research in 2011 and assess how the discipline seems likely develop in the future.

An unusual clinical presentation of gingival melanoacanthoma

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S. P. K. Kennedy Babu

2013-01-01

Full Text Available Gingival melanoacanthoma is a rare, benign pigmented lesion characterized clinically by sudden onset and rapid growth of a macular brown black lesion and histologically by acanthosis of superficial epithelium and proliferation of dendritic melanocytes. This article reports a previously undescribed case of pigmented unilateral diffuse gingival enlargement, which on histopathological examination proved to be melanoacanthoma. Intraoral examination revealed pigmented unilateral diffuse gingival enlargement in relation to second and third quadrants buccally, palatally/lingually. Based on these clinical findings, gingivectomy was performed and the excised tissue was sent for biopsy. Microscopic examination revealed acanthotic and parakeratotic surface epithelium with dendritic melanocytes distributed in basal and suprabasal layers of the epithelium. 1 year follow-up recall revealed no recurrence of lesion at the surgical sites. Our patient exhibits an unusual clinical presentation of melanoacanthoma of gingiva. Pigmented gingival overgrowth of recent origin and without any etiologic factors warrants histopathologic examination.

B-12 vitamin metabolism disorders

International Nuclear Information System (INIS)

Fabriciova, K.; Bzduch, V.; Behulova, D.; Skodova, J.; Holesova, D.; Ostrozlikova, M.; Schmidtova, K.; Kozich, V.

2012-01-01

Vitamin B-12 – cobalamin (Cbl) is a water soluble vitamin, which is synthesized by lower organisms. It cannot be synthesized by plants and higher organisms. Problem in the metabolic pathway of Cbl can be caused by its deficiency or by the deficiency of its last metabolites – adenosylcobalamin and methylcobalamin. Both reasons are presented by errors in the homocysteine and methylmalonyl-coenzyme A metabolism. Clinical symptoms of the Cbl metabolism disorders are: different neurological disorders, changes in haematological status (megaloblastic anemia, pancytopenia), symptoms of gastrointestinal tract (glossitis, loss of appetite, diarrhea) and changes in the immune system. In the article the authors describe the causes of Cbl metabolism disorders, its different diagnosis and treatment. They introduce the group of patients with these disorders, who were taken care of in the I st Paediatric Department of University Children Hospital for the last 5 years. (author)

Clinical and metabolic features of type 2 diabetes mellitus in participants of Chernobyl accident clean-up

International Nuclear Information System (INIS)

Zujeva, N.O.; Kovalenko, O.M.; Jefyimov, A.S.

2000-01-01

The clinical and metabolic features of type 2 diabetes mellitus (DM) in the participants of Chernobyl accident clean-up (PCAC) was studied. It was found out that DM in PCAC was first diagnosed against a background of formed cardiovascular pathology and hyper coagulation

Clinical utility of metabolic syndrome severity scores: considerations for practitioners

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DeBoer MD

2017-02-01

Full Text Available Mark D DeBoer,1,2 Matthew J Gurka2 11Division of Pediatric Endocrinology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, 2Department of Health Outcomes and Policy, College of Medicine, University of Florida, Gainesville, FL, USA Abstract: The metabolic syndrome (MetS is marked by abnormalities in central obesity, high blood pressure, high triglycerides, low high-density lipoprotein-cholesterol, and high fasting glucose and appears to be produced by underlying processes of inflammation, oxidative stress, and adipocyte dysfunction. MetS has traditionally been classified based on dichotomous criteria that deny that MetS-related risk likely exists as a spectrum. Continuous MetS scores provide a way to track MetS-related risk over time. We generated MetS severity scores that are sex- and race/ethnicity-specific, acknowledging that the way MetS is manifested may be different by sex and racial/ethnic subgroup. These scores are correlated with long-term risk for type 2 diabetes mellitus and cardiovascular disease. Clinical use of scores like these provide a potential opportunity to identify patients at highest risk, motivate patients toward lifestyle change, and follow treatment progress over time. Keywords: metabolic syndrome, insulin resistance, cardiovascular disease, type 2 diabetes, risk prediction

PET/CT-guided biopsies of metabolically active bone lesions: applications and clinical impact

Energy Technology Data Exchange (ETDEWEB)

Klaeser, Bernd; Wartenberg, Jan; Weitzel, Thilo; Krause, Thomas [Bern University Hospital and University of Bern, Department of Nuclear Medicine, Inselspital, Bern (Switzerland); Wiskirchen, Jakub [Bern University Hospital and University of Bern, Department of Nuclear Medicine, Inselspital, Bern (Switzerland); University Hospital Tuebingen, Department of Radiology, Neuroradiology, and Nuclear Medicine, Tuebingen (Germany); Schmid, Ralph A. [Bern University Hospital and University of Bern, Department of Thoracic Surgery, Inselspital, Bern (Switzerland); Mueller, Michel D. [Bern University Hospital and University of Bern, Department of Obstetrics and Gynaecology, Inselspital, Bern (Switzerland)

2010-11-15

In a minority of cases a definite diagnosis and stage grouping in cancer patients is not possible based on the imaging information of PET/CT. We report our experience with percutaneous PET/CT-guided bone biopsies to histologically verify the aetiology of hypermetabolic bone lesions. We retrospectively reviewed the data of 20 consecutive patients who underwent multimodal image-guided bone biopsies using a dedicated PET/CT system in a step-by-step technique. Technical and clinical success rates of PET/CT-guided biopsies were evaluated. Questionnaires were sent to the referring physicians to assess the impact of biopsies on patient management and to check the clinical need for PET/CT-guided biopsies. Clinical indications for biopsy were to histologically verify the aetiology of metabolically active bone lesions without a morphological correlate confirming the suspicion of metastases in 15 patients, to determine the origin of suspected metastases in 3 patients and to evaluate the appropriateness of targeted therapy options in 2 patients. Biopsies were technically successful in all patients. In 19 of 20 patients a definite histological diagnosis was possible. No complications or adverse effects occurred. The result of PET/CT-guided bone biopsies determined a change of the planned treatment in overall 56% of patients, with intramodality changes, e.g. chemotherapy with palliative instead of curative intent, and intermodality changes, e.g. systemic therapy instead of surgery, in 22 and 50%, respectively. PET/CT-guided bone biopsies are a promising alternative to conventional techniques to make metabolically active bone lesions - especially without a distinctive morphological correlate - accessible for histological verification. PET/CT-guided biopsies had a major clinical impact in patients who otherwise cannot be reliably stage grouped at the time of treatment decisions. (orig.)

Severe metabolic alkalosis due to baking soda ingestion: case reports of two patients with unsuspected antacid overdose.

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Fitzgibbons, L J; Snoey, E R

1999-01-01

Oral ingestion of baking soda (sodium bicarbonate) has been used for decades as a home remedy for acid indigestion. Excessive bicarbonate ingestion places patients at risk for a variety of metabolic derangements including metabolic alkalosis, hypokalemia, hypernatremia, and even hypoxia. The clinical presentation is highly variable but can include seizures, dysrhythmias, and cardiopulmonary arrest. We present two cases of severe metabolic alkalosis in patients with unsuspected antacid overdose. The presentation and pathophysiology of antacid-related metabolic alkalosis is reviewed.

Portal vein thrombosis; risk factors, clinical presentation and treatment

DEFF Research Database (Denmark)

Sogaard, Kirstine K; Astrup, Lone B; Vilstrup, Hendrik

2007-01-01

and treatment of portal vein thrombosis in a single-centre. METHODS: Sixty-seven patients were identified in the electronic records from 1992 to 2005. All data were obtained from the patient records. RESULTS: One or more risk factors (e.g. prothrombotic disorder or abdominal inflammation) were present in 87......BACKGROUND: Portal vein thrombosis (PVT) is increasingly frequently being diagnosed, but systematic descriptions of the natural history and clinical handling of the condition are sparse. The aim of this retrospective study was to describe risk factors, clinical presentation, complications...

ALI and DAC for transuranic elements based on the metabolic data presented in ICRP Publication 48

International Nuclear Information System (INIS)

Togawa, Orihiko; Yamaguchi, Yukichi; Homma, Toshimitsu

1987-07-01

The recently published ICRP report, ICRP Publication 48, presents the new metabolic data of some transuranic elements, compared with those employed in the calculation of ALI and DAC in ICRP Publication 30. Values of ALI and DAC for 72 radionuclides were calculated using the metabolic data presented in the Publication 48. The calculation was performed by a computer code system DOSDAC, which can systematically calculate ALI and DAC by the same method as that described in the Publication 30. The calculated values of ALI and DAC were tabulated in the same format as that of the supplements to the Publication 30. For the convenience of using in the dose assessment, also given are values of committed effective dose equivalent per intake of unit activity. It is expected that these values will be applied to the radiation protection purposes. (author)

Description of Common Clinical Presentations and Associated Short-Term Physical Therapy Clinical Outcomes in Patients With Neck Pain.

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Horn, Maggie E; Brennan, Gerard P; George, Steven Z; Harman, Jeffrey S; Bishop, Mark D

2015-10-01

To determine the effect of clinical presentations of neck pain on short-term physical therapy outcomes. Retrospective analysis of pair-matched groups from a clinical cohort. Thirteen outpatient physical therapy clinics in 1 health care system. Patients (N=1069) grouped by common clinical presentations of neck pain: nonspecific neck pain (NSNP) with duration 4 weeks; neck pain with arm pain; neck pain with headache; and neck pain from whiplash. Conservative interventions provided by physical therapists. Neck Disability Index (NDI) and numerical pain rating scale (NPRS) recorded at the initial and last visits. The main outcome of interest was achieving recovery status on the NDI. Changes in NDI and NPRS were compared between clinical presentation groups. Compared with patients presenting with NSNP >4 weeks, patients with NSNP neck pain and arm pain demonstrated an increased odds of achieving recovery status on the NDI (P=.04) compared with patients presenting with NSNP >4 weeks. Treating patients with NSNP within <4 weeks of onset of symptoms may lead to improved clinical outcomes from physical therapy compared with other common clinical presentations. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Presentation of an acquired urea cycle disorder post liver transplantation.

Science.gov (United States)

Ghabril, Marwan; Nguyen, Justin; Kramer, David; Genco, Trina; Mai, Martin; Rosser, Barry G

2007-12-01

The liver's role as the largest organ of metabolism and the unique and often critical function of liver-specific enzyme pathways imply a greater risk to the recipient of acquiring a donor metabolic disease with liver transplants versus other solid organ transplants. With clinical consequences rarely reported, the frequency of solid organ transplant transfer of metabolic disease is not known. Ornithine transcarbamylase deficiency (OTCD), although rare, is the most common of the urea cycle disorders (UCDs). Because of phenotypic heterogeneity, OTCD may go undiagnosed into adulthood. With over 5000 liver transplant procedures annually in the United States, the likelihood of unknowingly transmitting OTCD through liver transplantation is very low. We describe the clinical course of a liver transplant recipient presenting with acute hyperammonemia and encephalopathy after receiving a liver graft form a donor with unrecognized OTCD. Copyright (c) 2007 AASLD.

EVALUATION OF METABOLIC SYNDROME, ITS CORRELATION WITH CLINICAL AND ANGIOGRAPHIC PROFILE IN PATIENTS WITH CORONARY ARTERY DISEASE- A PROSPECTIVE STUDY AT TERTIARY HOSPITAL

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Eruvaram Srikanth

2016-10-01

complexity. Syntax score was calculated and along with thrombus burden was assessed by TIMI thrombus grading. RESULTS A total of 101 patients were included in the study from 2013 January to 2015 December. Of total cohorts, males were 70 (69.3%, n=70 and female were 31 (30.7%, n=31. The mean age of the studied population was 48.96±10.1 SD years. The clinical profile of the patients with the metabolic syndrome patients who satisfied 3 out of 5 criteria were 24.75% (n=25, who satisfied 4 out of 5 criteria were 48.51% (n=49 and patients who satisfied 5 out of 5 criteria were 26.73% (n=27, respectively. In the present study, there was 47.46% (n=28 of myocardial infarction patients were thrombolysed and remaining 52.54% (n=32 were not thrombolysed. The thrombolytic agent, which was used in 82.14% (n=23 was streptokinase and in 17.86% (n=5 the thrombolytic used was tenecteplase. Among the patients who underwent coronary angiogram, 92 patients were having coronary artery disease and remaining 7 patients had normal epicardial coronary artery disease (92.1% vs. 6.9%, about 71% (n=5 of patients in the normal epicardial coronary group were females. The coronary artery lesions when assessed by the AHA/ACC classification, most of the lesions were type B lesions 41.6% (n=46 followed by type A lesions 25.7% (n=26 and type C lesions 14.8% (n=15. Total 93 patients with coronary disease with metabolic syndrome, 7.9% (n=8 patients had grade V thrombus followed by 4.9% (n=5 who had grade I, 2.97% (n=3 had grade III and 1% (n=1 each had grade II and grade IV, respectively. The mean syntax score in patients with metabolic syndrome with diabetes was 11.4±7.5 SD and the mean syntax score in the patients with metabolic syndrome without diabetes was 8.6±5.5 SD. CONCLUSION In present study in which patients with metabolic syndrome with coronary artery disease were evaluated prospectively with mean age of 48.96±10 years, smoking (p0.05, metabolic syndrome with coronary artery disease had low mean

Clinical presentation and staging of Hodgkin lymphoma

DEFF Research Database (Denmark)

Gallamini, Andrea; Hutchings, Martin; Ramadan, Safaa

2016-01-01

, sometimes HL is a subtle disease, difficult to diagnose for the paucity of symptoms, the absence of physical findings, or for concomitant immunologic disorders: a compete overview of the common and rare patterns of HL clinical presentation will be also offered. The future perspective of PET scan use......In the present chapter the authors present a brief overview of the diagnostic methods proposed over time for Hodgkin lymphoma (HL) spread detection, moving from surgical procedures, through standard radiological and functional imaging techniques to the present state of the art for HL staging...... tomography (FDG-PET) scan in the armamentarium of staging procedures will be presented and commented, with a special emphasis on the utility of special procedures, such as bone marrow trephine biopsy, which is deemed no longer needed in the PET era. While the HL diagnosis is straightforward in most cases...

ORAL CLINICAL LONG CASE PRESENTATION, THE NEED FOR STANDARDIZATION AND DOCUMENTATION.

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Agodirin, S O; Olatoke, S A; Rahman, G A; Agbakwuru, E A; Kolawole, O A

2015-01-01

The oral presentation of the clinical long case is commonly an implied knowledge. The challenge of the presentation is compounded by the examiners' preferences and sometimes inadequate understanding of what should be assessed. To highlight the different opinions and misconceptions of trainers as the basis for improving our understanding and assessment of oral presentation of the clinical long case. Questionnaire was administered during the West African College of Surgeons fellowship clinical examinations and at their workplaces. Eligibility criteria included being a surgeon, a trainer and responding to all questions. Of the 72 questionnaires that were returned, 36(50%) were eligible for the analysis. The 36 respondents were from 14 centers in Nigeria and Ghana. Fifty-two percent were examiners at the postgraduate medical colleges and 9(25%) were professors. Eight(22.2%) indicated they were unaware of the separate methods of oral presentation for different occasions while 21( 58.3%) respondents were aware that candidate used the "5Cs" method and the traditional compartmentalized method in long case oral presentation. Eleven(30.6%) wanted postgraduates to present differently on a much higher level than undergraduate despite not encountering same in literature and 21(58.3%) indicated it was an unwritten rule. Seventeen (47.2%) had not previously encountered the "5Cs" of history of presenting complaint in literature also 17(47.2%) teach it to medical students and their junior residents. This study has shown that examiners definitely have varying opinions on what form the oral presentation of the clinical long case at surgery fellowship/professional examination should be and it translates to their expectations of the residents or clinical students. This highlights the need for standardization and consensus of what is expected at a formal oral presentation during the clinical long case examination in order to avoid subjectivity and bias.

Clinical and Metabolic Response to Selenium Supplementation in Pregnant Women at Risk for Intrauterine Growth Restriction: Randomized, Double-Blind, Placebo-Controlled Trial.

Science.gov (United States)

Mesdaghinia, Elaheh; Rahavi, Azam; Bahmani, Fereshteh; Sharifi, Nasrin; Asemi, Zatollah

2017-07-01

Data on the effects of selenium supplementation on clinical signs and metabolic profiles in women at risk for intrauterine growth restriction (IUGR) are scarce. This study was designed to assess the effects of selenium supplementation on clinical signs and metabolic status in pregnant women at risk for IUGR. This randomized double-blind placebo-controlled clinical trial was performed among 60 women at risk for IUGR according to abnormal uterine artery Doppler waveform. Participants were randomly assigned to intake either 100 μg selenium supplements as tablet (n = 30) or placebo (n = 30) for 10 weeks between 17 and 27 weeks of gestation. After 10 weeks of selenium administration, a higher percentage of women in the selenium group had pulsatility index (PI) of women at risk for IUGR resulted in improved PI, TAC, GSH, hs-CRP, and markers of insulin metabolism and HDL-C levels, but it did not affect MDA, NO, FPG, and other lipid profiles.Clinical trial registration number http://www.irct.ir : IRCT201601045623N64.

Resistance to Antiangiogenic Therapies by Metabolic Symbiosis in Renal Cell Carcinoma PDX Models and Patients

Directory of Open Access Journals (Sweden)

Gabriela Jiménez-Valerio

2016-05-01

Full Text Available Antiangiogenic drugs are used clinically for treatment of renal cell carcinoma (RCC as a standard first-line treatment. Nevertheless, these agents primarily serve to stabilize disease, and resistance eventually develops concomitant with progression. Here, we implicate metabolic symbiosis between tumor cells distal and proximal to remaining vessels as a mechanism of resistance to antiangiogenic therapies in patient-derived RCC orthoxenograft (PDX models and in clinical samples. This metabolic patterning is regulated by the mTOR pathway, and its inhibition effectively blocks metabolic symbiosis in PDX models. Clinically, patients treated with antiangiogenics consistently present with histologic signatures of metabolic symbiosis that are exacerbated in resistant tumors. Furthermore, the mTOR pathway is also associated in clinical samples, and its inhibition eliminates symbiotic patterning in patient samples. Overall, these data support a mechanism of resistance to antiangiogenics involving metabolic compartmentalization of tumor cells that can be inhibited by mTOR-targeted drugs.

Beneficial effect of pistachio consumption on glucose metabolism, insulin resistance, inflammation, and related metabolic risk markers: a randomized clinical trial.

Science.gov (United States)

Hernández-Alonso, Pablo; Salas-Salvadó, Jordi; Baldrich-Mora, Mònica; Juanola-Falgarona, Martí; Bulló, Mònica

2014-11-01

To examine whether a pistachio-rich diet reduces the prediabetes stage and improves its metabolic risk profile. Prediabetic subjects were recruited to participate in this Spanish randomized clinical trial between 20 September 2011 and 4 February 2013. In a crossover manner, 54 subjects consumed two diets, each for 4 months: a pistachio-supplemented diet (PD) and a control diet (CD). A 2-week washout period separated study periods. Diets were isocaloric and matched for protein, fiber, and saturated fatty acids. A total of 55% of the CD calories came from carbohydrates and 30% from fat, whereas for the PD, these percentages were 50 and 35%, respectively (including 57 g/day of pistachios). Fasting glucose, insulin, and HOMA of insulin resistance decreased significantly after the PD compared with the CD. Other cardiometabolic risk markers such as fibrinogen, oxidized LDL, and platelet factor 4 significantly decreased under the PD compared with the CD (P pistachio intervention (P pistachio consumption is emerging as a useful nutritional strategy for the prediabetic state. Data suggest that pistachios have a glucose- and insulin-lowering effect, promote a healthier metabolic profile, and reverse certain metabolic deleterious consequences of prediabetes. © 2014 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

Idiopathic granulomatous mastitis; Clinical presentation, radiological features and treatmant

International Nuclear Information System (INIS)

Aldaqal, Saleh M.

2004-01-01

To determine the clinical characteristic, clinical presentations and radiological features of diopathic granulomatous mastitis, and the best treatment approaches of this clinical entity. Between 1996 and 2003 the files and histopathology reports of 25 patients with granulomatous mastitis at King Abdul-Aziz University Hospital Jeddah, Kindom of Saudi Arabia were reviewed. The data were analyzed and a Medline search was carried out from 1970 to 2003 to review relevant cases. The age of patients ranged from 24-66 years and the mean age was 36.6+-9.43 years. All patients were females. The most common clinical presentation was palpable tender mass. The most common mammographic finding was ill-defined mass. However, mixed hypo- and hyper-echogenic lesions with tubular connections were the common ultrasonic findings. Treatment approaches were conservative or surgical excision or steroid. Conservative treatment associated with the higher rate of complications, while treatment with steroid showed complete remission of disease. Idiopathic granulomatous mastitis is a rare, benign breast disease that is usually underestimated or misdiagnosed. The clinical and radiological features resemble those of infectious mastitis or breast carcinoma. Early recognition and initiation of steroid treatment will result in complete remission of the disease and prevent complications. (author)

Spectrum of mitochondrial genomic variation and associated clinical presentation of prostate cancer in South African men.

Science.gov (United States)

McCrow, John P; Petersen, Desiree C; Louw, Melanie; Chan, Eva K F; Harmeyer, Katherine; Vecchiarelli, Stefano; Lyons, Ruth J; Bornman, M S Riana; Hayes, Vanessa M

2016-03-01

Prostate cancer incidence and mortality rates are significantly increased in African-American men, but limited studies have been performed within Sub-Saharan African populations. As mitochondria control energy metabolism and apoptosis we speculate that somatic mutations within mitochondrial genomes are candidate drivers of aggressive prostate carcinogenesis. We used matched blood and prostate tissue samples from 87 South African men (77 with African ancestry) to perform deep sequencing of complete mitochondrial genomes. Clinical presentation was biased toward aggressive disease (Gleason score >7, 64%), and compared with men without prostate cancer either with or without benign prostatic hyperplasia. We identified 144 somatic mtDNA single nucleotide variants (SNVs), of which 80 were observed in 39 men presenting with aggressive disease. Both the number and frequency of somatic mtDNA SNVs were associated with higher pathological stage. Besides doubling the total number of somatic PCa-associated mitochondrial genome mutations identified to date, we associate mutational load with aggressive prostate cancer status in men of African ancestry. © 2015 The Authors. The Prostate published by Wiley Periodicals, Inc.

Ectopic adrenocorticotropic hormone syndrome presenting as hypokalemic metabolic alkalosis and hypertension

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Mansoor C Abdulla

2016-01-01

Full Text Available The ectopic adrenocorticotropic hormone (ACTH syndrome is an uncommon cause of hypercortisolism, which should be considered in patients with hypokalemic metabolic alkalosis and hypertension in the context of lung neoplasm. We report a 60-year-old male patient with severe hypertension, metabolic alkalosis, and hypokalemia as the initial manifestations of an ACTH-secreting small cell lung carcinoma. Ectopic Cushing's syndrome should always be ruled out in patients with severe hypertension and hypokalemia.

[Clinical analysis of metabolic syndrome in vertiginous diseases].

Science.gov (United States)

Yamanaka, Toshiaki; Fukuda, Takehiko; Sawai, Yachiyo; Shirota, Shiho; Shimizu, Naoki; Murai, Takayuki; Okamoto, Hideyuki; Fujita, Nobuya; Hosoi, Hiroshi

2011-01-01

To explore the relationship between metabolic syndrome and vertigo, we measured waist circumference, plasma glucose, triglycerides and blood pressure in 333 subjects aged 20-79 years with vertigo. We found overall metabolic syndrome prevalence defined by Japanese diagnostic criteria to be 13.2%, similar to that in other national surveys by the Japanese Ministry of Health, Labour and Welfare. The 6-fold higher prevalence in men over women exceeded that of other reports, however. The highest frequency was in vertebrobasilar insufficiency (VBI) disorders, suggesting that conditions such as VBI in men with vertigo could involve metabolic syndrome as a risk factor for vertigo incidence.

Mushroom poisoning in children: clinical presentation and outcome

International Nuclear Information System (INIS)

Jan, M.A.; Khan, Z.; Siddiqui, T.S.

2008-01-01

A variable clinical picture characterizes mushroom poisoning. The Amatoxin, the main toxic component of these fungi, are responsible for gastrointestinal symptoms as well as hepatic and renal failure. As acute gastroenteritis is extremely common in our set up, so every patient presenting with these symptoms is treated as gastroenteritis of viral aetiology. The authors present the clinical picture of the phalloid syndrome, its treatment and immediate outcome. All children age less than 16 years admitted in Saidu Hospital Swat from January to December 2006 with mushroom poisoning were included in the study. Patients with doubtful history or with associated illness were not included. The diagnosis was based on the clinical picture of the patient, history and the laboratory data. In addition to maintenance of fluid and electrolyte balance and treating sepsis, oral Silymarin and intravenous penicillin was started. Liver function tests, renal functions tests, serum electrolytes and coagulation profile was done in all the patients. The severity of poisoning was graded according to hepatic transaminase elevations and prolongation of prothrombin time. Of the 18 patients, fifteen were above five years of age. Female were twice in number. Fifteen patients developed hepatic failure and three patients developed renal failure. Thirteen patients expired. To start timely management, Mushroom poisoning should be considered in the differential diagnosis in patients presenting with food poisoning particularly coming in groups. Delay in diagnosis is associated with high mortality. (author)

The Demographic and Clinical Presentation of Ulcerative Keratitis in ...

African Journals Online (AJOL)

Background: Ulcerative keratitis and subsequent corneal scarring is at present the leading cause of ocular morbidity and unilateral blindness in developing countries. In developed countries, HIV infection has been associated with severe ulcerative keratitis. The demographic and clinical presentation of Ulcerative keratitis ...

Spontaneous Pneumomediastinum: Case Presentation to a College Student Health Clinic

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Spotts, P. Hunter

2017-01-01

The author describes a case of spontaneous pneumomediastinum (SPM) in a 19-year-old man presenting to a college student health clinic. The author also provides a review on SPM, including clinical manifestations, diagnostic evaluation, and management.

Correlation of plasma B-type natriuretic peptide levels with metabolic risk markers.

Science.gov (United States)

Ahued-Ortega, José Armando; León-García, Plácido Enrique; Hernández-Pérez, Elizabeth

2018-04-17

Natriuretic peptide type B (BNP) is a marker of myocardium injury. This peptide has been associated with metabolic risk markers, although controversy exists in this regard. The aim of the present study was to determine the correlation of plasma BNP levels with metabolic risk parameters. A retrospective, observational study that included 152 patients, who were classified according to their clinical diagnosis as patients with metabolic syndrome. Plasma BNP levels and clinical metabolic parameters were assessed by using Spearmańs rank correlation coefficient. A significant inverse association with weight (r=-.408; p<.0001) and BMI (r=-.443; p<.001) was obtained. While a positive significant association with systolic pressure (r=.324; p<.001) was observed. A significant decrease was found in BNP levels and components of metabolic syndrome. (p<.05). Based on the results from this study, we can conclude that BNP determination could be an adequate metabolic marker. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

Amphetamine, past and present--a pharmacological and clinical perspective.

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Heal, David J; Smith, Sharon L; Gosden, Jane; Nutt, David J

2013-06-01

Amphetamine was discovered over 100 years ago. Since then, it has transformed from a drug that was freely available without prescription as a panacea for a broad range of disorders into a highly restricted Controlled Drug with therapeutic applications restricted to attention deficit hyperactivity disorder (ADHD) and narcolepsy. This review describes the relationship between chemical structure and pharmacology of amphetamine and its congeners. Amphetamine's diverse pharmacological actions translate not only into therapeutic efficacy, but also into the production of adverse events and liability for recreational abuse. Accordingly, the balance of benefit/risk is the key challenge for its clinical use. The review charts advances in pharmaceutical development from the introduction of once-daily formulations of amphetamine through to lisdexamfetamine, which is the first d-amphetamine prodrug approved for the management of ADHD in children, adolescents and adults. The unusual metabolic route for lisdexamfetamine to deliver d-amphetamine makes an important contribution to its pharmacology. How lisdexamfetamine's distinctive pharmacokinetic/pharmacodynamic profile translates into sustained efficacy as a treatment for ADHD and its reduced potential for recreational abuse is also discussed.

Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder

OpenAIRE

Sahin, Cem; Levent, Mustafa; Akbaba, Gulhan; Kara, Bilge; Yeniceri, Emine Nese; Inanc, Betul Battaloglu

2015-01-01

Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or “Fahr’s disease,” is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly present...

Toxigenic and metabolic causes of ketosis and ketoacidotic syndromes.

Science.gov (United States)

Cartwright, Martina M; Hajja, Waddah; Al-Khatib, Sofian; Hazeghazam, Maryam; Sreedhar, Dharmashree; Li, Rebecca Na; Wong-McKinstry, Edna; Carlson, Richard W

2012-10-01

Ketoacidotic syndromes are frequently encountered in acute care medicine. This article focuses on ketosis and ketoacidotic syndromes associated with intoxications, alcohol abuse, starvation, and certain dietary supplements as well as inborn errors of metabolism. Although all of these various processes are characterized by the accumulation of ketone bodies and metabolic acidosis, there are differences in the mechanisms, clinical presentations, and principles of therapy for these heterogeneous disorders. Pathophysiologic mechanisms that account for these disorders are presented, as well as guidance regarding identification and management. Copyright © 2012 Elsevier Inc. All rights reserved.

Comparison clinical and metabolic effects of metformin and pioglitazone in polycystic ovary syndrome

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Karoon Shahebrahimi

2016-01-01

Full Text Available Introduction: Polycystic ovary syndrome (PCOS is one of the most common endocrine disorders in women. PCOS comprises a broad spectrum of anomalies, including hyperandrogenism, chronic anovulation, obesity, and infertility. Insulin resistance and its compensatory hyperinsulinemia play a key role in the pathogenicity of PCOS. This study compares the effects of 2 types of insulin sensitizer drugs, metformin and pioglitazone, on clinical, metabolic, and endocrine characteristics of women with PCOS. Methods: In this randomized clinical trial, 56 women with PCOS (ages 20–49 years were treated orally with either metformin (500 mg 3 times daily or pioglitazone (30 mg daily for 3 months. Clinical (body weight, blood pressure [BP], and body mass index and laboratory indices (fasting blood sugar [FBS], serum triglyceride [TG], cholesterol, low-density lipoprotein, high-density lipoprotein, insulin, testosterone, and dehydroepiandrosterone [DHEA] were measured before and after therapy. Data were analyzed by Chi-square and McNemar's tests. Results: Significant decreases were seen after treatment with metformin in extent of hair loss (P = 0.008, wrist circle (P = 0.011, weight (P = 0.047, diastolic BP (P = 0.023, and DHEA (P = 0.035. A significant decrease in TG was seen with pioglitazone treatment (P = 0.047. In both groups, significant decreases in acne, menstrual disturbance, FBS, and serum insulin were seen. Conclusion: There is a significant amelioration of endocrine and metabolic indices with pioglitazone in PCOS patients. Although we were not able to recommend one treatment regime over the other, pioglitazone offers a useful, alternate treatment in women with PCOS who are not able to tolerate metformin.

Manipulation of the metabolic response in clinical practice

DEFF Research Database (Denmark)

Kehlet, H

2000-01-01

morbidity. Effective afferent neural blockade with continuous epidural local anesthetic techniques inhibits a major part of the endocrine metabolic response, leading to improved protein economy but without important effects on inflammatory or immunologic responses. In contrast, pain treatment with other...... modalities such as nonsteroidal antiinflammatory drugs (NSAIDs) and opioids has only a small inhibitory effect on endocrine metabolic responses. Preoperative high-dose glucocorticoid therapy provides additional pain relief and improves pulmonary function, but it reduces the inflammatory response (acute......-phase proteins, cytokines, hyperthermia) and immune function. Minimally invasive surgery leaves the endocrine metabolic responses largely unaltered but reduces the inflammatory response and immune suppression. Thus several techniques are available to modify the stress responses in elective surgery patients...

Abdominal tuberculosis: clinical presentation and outcome

International Nuclear Information System (INIS)

Kumar, R.; Saddique, M.; Iqbal, P.

2007-01-01

To study the clinical presentation and outcome of cases of Abdominal Tuberculosis. Fifty four patients of Abdominal Tuberculosis were seen during the study period. Four patients were lost to follow-up, which were excluded. Detailed information of all the patients including age, sex, symptoms, signs, investigations and management was recorded, analyzed and compared with local and international data. Out of the 50 patients with Abdominal Tuberculosis, 31 were females and 19 males. Their ages ranged from 17 to 63 years, with a mean age of 25.1 years. Thirty five cases were admitted through Emergency and 15 through Outpatients departments. Abdominal pain was the most common symptom found in 44 (88%) patients followed by vomiting in 33 (66%). Abdominal tenderness was seen in 22 (44%) patients, while 16 (32%) patients had rigidity and other features of peritonitis. Surgery was performed in all these patients, limited right hemicolectomy in 17 (34%), segmental resection and anastomosis in 12 (24%), ileostomy and strictureplasty in six (12%) each, repair of perforation in five (10%) and adhesiolysis in four (8%) patients. Overall mortality was 8% due to septicaemia and multiorgan failure. Abdominal Tuberculosis is a significant clinical entity with lethal complications in neglected cases. It affects a younger age group and is more common in females. Clinical features are rather non-specific but vague ill health, low grade fever, weight loss and anorexia may help to diagnose the case. (author)

Fibrocartilaginous embolic myelopathy: demographics, clinical presentation, and functional outcomes.

Science.gov (United States)

Moore, Brittany J; Batterson, Anna M; Luetmer, Marianne T; Reeves, Ronald K

2018-05-25

Retrospective cohort study. To describe the demographics, clinical presentation, and functional outcomes of fibrocartilaginous embolic myelopathy (FCEM). Academic inpatient rehabilitation unit in the midwestern United States. We retrospectively searched our database to identify patients admitted between January 1, 1995 and March 31, 2016, with a high probability of FCEM. Demographic, clinical, and functional outcome measures, including Functional Independence Measure (FIM) information was obtained by chart review. We identified 31 patients with findings suggestive of FCEM (52% male), which was 2% of the nontraumatic spinal cord injury population admitted to inpatient rehabilitation. The age distribution was bimodal, with peaks in the second and sixth-to-seventh decades. The most common clinical presentation was acute pain and rapid progression of neurologic deficits consistent with a vascular myelopathy. Only three patients (10%) had FCEM documented as a diagnostic possibility. Most patients had paraplegia and neurologically incomplete injuries and were discharged to home. Nearly half of the patients required no assistive device for bladder management at discharge, but most were discharged with medications for bowel management. Median FIM walking locomotion score for all patients was 5, but most patients were discharged using a wheelchair for primary mobility. Median motor FIM subscale score was 36 at admission and 69 at discharge, with a median motor efficiency of 1.41. FCEM may be underdiagnosed and should be considered in those with the appropriate clinical presentation, because their functional outcomes may be more favorable than those with other causes of spinal cord infarction.

[The mechanisms underlying the therapeutic effects of reflexotherapy and drinking mineral waters in the patients presenting with metabolic syndrome].

Science.gov (United States)

Zhernov, V A; Frolkov, V K; Zubarkina, M M

Both acupuncture and drinking mineral water can influence the metabolism of carbohydrates and lipids as well as their hormonal regulation, but the possibility of the application of these therapeutic factors for the correction of insulin resistance has not been studied in the patients presenting with metabolic syndrome. The objective of the present study was to evaluate the effects produced by the intake of drinking mineral water and acupuncture on the various parameters characterizing the patients suffering from metabolic syndrome in combination with altered insulin resistance. Ninety patients with this condition included in the study underwent the analysis of their the blood pressure, body mass index, blood glucose and lipid levels, insulin and cortisol secretion. We undertook the analysis of the effects of the single and repeated intakes of Essentuki No 17 mineral water included in the combined treatment of the patients with metabolic syndrome and revealed many common responses of the organism to its therapeutic action. Specifically, the stress-type reactions suggested the initiation of the adaptive processes in the system of hormonal regulation of carbohydrate and lipid metabolism. Simultaneously, the manifestations of insulin resistance became less pronounced indicating that both acupuncture and drinking mineral water suppressed the action of the main pathogenic mechanisms underlying the development of metabolic syndrome. Moreover, it was shown that acupuncture had a stronger hypotensive effect in the combination with the decrease of the overproduction of cortisol whereas the intake of the mineral water had a greater metabolic potential and contributed to the intensification of the basal secretion of glucocorticoids. Both reflexotherapy and drinking mineral water have a well apparent effect on the pathogenetic reactions of the metabolic syndrome and therefore can be used in addition to the standard therapy to activate the non-specific, phylogenetically

Clinical Characterization of Gastric Antral Vascular Ectasia: A Potential Manifestation of the Metabolic Syndrome.

Science.gov (United States)

Smith, Elliot; Tekola, Bezawit; Patrie, James; Cornella, Scott; Caldwell, Stephen

2016-12-01

Gastric antral vascular ectasia is a relatively common endoscopic finding. Past studies have shown an association of gastric antral vascular ectasia with cirrhosis and autoimmune disorders. We aimed to re-examine these associations and to investigate a possible association of gastric antral vascular ectasia with features of the metabolic syndrome. There were 135 patients with a diagnosis of gastric antral vascular ectasia from years 1995-2013 seen at the University of Virginia who were identified from a clinical data repository and age and sex matched to a cohort of patients without gastric antral vascular ectasia undergoing endoscopy within the same time frame as the index cases. The groups were compared for comorbidities including autoimmune disease, cirrhosis, vascular disease, body mass index (BMI), diabetes mellitus, and cirrhosis due to nonalcoholic steatohepatitis. Sixty-four percent of gastric antral vascular ectasia patients were cirrhotic, compared with 14% of controls (P correlation of gastric antral vascular ectasia with features of metabolic syndrome such as diabetes, BMI, vascular disease, and nonalcoholic steatohepatitis cirrhosis. The pathophysiology of gastric antral vascular ectasia remains uncertain, but we speculate that it may be a manifestation of the metabolic syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Toward a chronobiological characterization of obesity and metabolic syndrome in clinical practice.

Science.gov (United States)

Corbalán-Tutau, M D; Gómez-Abellán, P; Madrid, J A; Canteras, M; Ordovás, J M; Garaulet, M

2015-06-01

To test several circadian rhythm variables in a female population to identify the best tool to assess chronodisruption in obesity and metabolic syndrome (MetS) to define a score to be used for chronodisruption characterization in clinical practice. Anthropometric measurements and markers of circadian rhythms, such as sleep and feeding diary, Horne-Ostberg questionnaire, melatonin and cortisol measurements, and wrist temperature measurements, were determined. MetS variables were also analyzed. Study was conducted in 70 women. Data were subjected to factor analysis. Receiver operating characteristic curves were used as predictors of chronodisruption risk, and a score was calculated to classify the subjects of risk. Factor analysis showed that the first-factor grouped variables were related to the skin temperature measurement. Second factor consisted of variables related to salivary cortisol levels and obesity-related measurements. Third factor included variables related to sleep-wake cycle. Fourth factor referred to peripheral temperature variables and included the classification of subjects according to the Horne-Ostberg questionnaire. To obtain a final punctuation we performed the weighted mean of the first four factors. The final range was from 27 to 57, mean value of 42. Punctuation was defined as the "chronodisruption score." Women displaying higher chronodisruption scores had higher MetS risk. The study demonstrates that wrist temperature recordings, together with two questions of sleep onset and offset, and one morning salivary cortisol determination could be enough to characterize the chronobiology of obesity and MetS, a new chronodisruption score was developed. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

Science.gov (United States)

Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

2017-01-01

To determine different clinical presentationsand disease location demarcatedby upper and lower gastrointestinal endoscopyand relevant histopathologyin children diagnosed with inflammatory bowel disease (IBD). This is 5 years (2010 to 2015) retrospective studyconducted at the Aga Khan University Hospitalenrolling65admitted children between 6 months to 15years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower (up to the terminal ileum) endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables. Total 56 children were enrolled according to inclusion criteria. There were 34children (61.53%) diagnosed with ulcerative colitis (UC), 10 patients (16.92%) had Crohn'sDisease (CD) and 11 (21.53%) patients were labeled as Indeterminate colitis (IC). Mean age at onset of symptoms was10.03±2.44 and mean age at diagnosis was11.10±2.36. Abdominal pain (80%) and chronic diarrhea (70%) were common symptoms in CD whereas bloody diarrhea (79.41%) and rectal bleeding(64.70%)were common presentation in UC. Patients diagnosed with indeterminate colitis(IC) had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and/or uveitis. Aspartate aminotransferase level (95.18 ±12.89) was relatively high in

Clinical Presentation and Outcome of Patients With Optic Pathway Glioma.

Science.gov (United States)

Robert-Boire, Viviane; Rosca, Lorena; Samson, Yvan; Ospina, Luis H; Perreault, Sébastien

2017-10-01

Optic pathway gliomas (OPGs) occur sporadically or in patients with neurofibromatosis type 1 (NF1). The purpose of this study was to evaluate the clinical presentation at diagnosis and at progression of patients with OPGs. We conducted a chart review of patients with OPGs diagnosed in a single center over a period of 15 years. Demographic data including age, sex, NF1 status, clinical presentation, and outcome were collected. Of the 40 patients who were identified, 23 had sporadic tumors (57.5%) and 17 had NF1-related tumors (42.5%). Among the children with NF1, there was a significant overrepresentation of girls (82.3%) (P = 0.02), while among the children without NF1, there were slightly more boys (56.5%) than girls (43.5%). The presence of nystagmus was strongly associated with sporadic optic pathway gliomas. Poor visual outcome was related to tumor affecting both optic pathways, hydrocephalus at diagnosis, and optic nerve atrophy. Of the 40 patients, five died of OPG complications (12.5%) and all had sporadic tumors. Our cohort is one of the largest with OPGs and a detailed description of the clinical presentation both at diagnosis and at progression. We observed a significant difference between sporadic and NF1 optic pathway gliomas in terms of demographics, clinical presentation, and outcome. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical presentation and treatment of septic arthritis in children.

Science.gov (United States)

Moro-Lago, I; Talavera, G; Moraleda, L; González-Morán, G

The aim of this study is to determine the epidemiological features, clinical presentation, and treatment of children with septic arthritis. A retrospective review was conducted on a total of 141 children with septic arthritis treated in Hospital Universitario La Paz (Madrid) between the years 2000 to 2013. The patient data collected included, the joint affected, the clinical presentation, the laboratory results, the appearance, Gram stain result, and the joint fluid culture, as well as the imaging tests and the treatment. Most (94%) of the patients were less than 2 years-old. The most common location was the knee (52%), followed by the hip (21%). The septic arthritis was confirmed in 53%. No type of fever was initially observed in 49% of them, and 18% had an ESR (mm/h) or CRP (mg/l) less than 30 in the initial laboratory analysis. The joint fluid was purulent in 45% and turbid in 12%. The Gram stain showed bacteria in 4%. The fluid culture was positive in 17%. Staphylococcus aureus was the most common pathogen found, followed by Streptococcus agalactiae, Streptococcus pneumoniae, and Kingella kingae. Antibiotic treatment was intravenous administration for 7 days, followed by 21 days orally. Surgery was performed in 18% of cases. The diagnosis was only confirmed in 53% of the patients. Some of the confirmed septic arthritis did not present with the classical clinical/analytical signs, demonstrating that the traumatologist or paediatrician requires a high initial level of clinical suspicion of the disease. Copyright © 2017 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

Acute appendicitis: most common clinical presentation and causative microorganism

International Nuclear Information System (INIS)

Awan, M.Y.; Shukr, I.; Mahmood, M.A.; Qasmi, S.A.

2013-01-01

Objective: To determine the most common clinical presentation and causative microorganism for acute appendicitis. Study Design: Descriptive. Place and duration of study: Department of Surgery, Combined Military Hospital Multan, from June 2002 to May 2004. Patients and Methods: Clinical features of all the patients, older than 5 years of age diagnosed with acute appendicitis were recorded. Patients presented with other pathology which mimic acute appendicitis were excluded from the study. Surgery was done under general anaesthesia. Appendices of all the patient as well as pus swabs from abdominal cavity were sent to the laboratory for histopathology and microbiological cultures to confirm the diagnoses of acute appendicitis and causative organism. Results: The mean age of 75 subjects was 32.56 +- 11.93 years. The most common symptom was pain in right iliac fossa (80 % cases) and the most common physical sign was tenderness (92% cases). Some of the patients(9.3%) had a histologically normal appendix. Maximum isolates on culture were E. coli. Conclusion: The most common presentation of acute appendicitis was pain in right iliac fossa while the most sensitive sign was tenderness. Proper history and sharp clinical examination is the key to diagnosis. The most frequent organism of appendicitis was Escherichia Coli. (author)

Obesity and its cardio-metabolic co-morbidities among adult Nigerians in a primary care clinic of a tertiary hospital in South-Eastern, Nigeria

Directory of Open Access Journals (Sweden)

Gabriel Uche Pascal Iloh

2013-01-01

Full Text Available Background: Obesity once thought the medical problem of affluent countries now exist in Nigeria and has been described as a time bomb for the future explosion in the frequency of cardio-metabolic diseases. The most deleterious health consequences of obesity are on the cardiovascular system and associated disorder of lipid and glucose homeostasis. Aim: This study was designed to determine the magnitude of obesity and its cardio-metabolic co-morbidities among adult Nigerians in a primary care clinic of a tertiary hospital South-Eastern, Nigeria. Materials and Methods: A cross-sectional study carried out on 2391 adult Nigerians who were assessed for obesity using body mass index (BMI criterion. 206 patients who had BMI ΃30kg/m 2 were screened for cardio-metabolic co-morbidities. The data collected included basic demographic variables, weight, height, blood pressure; fasting plasma glucose and lipid profile. Results: The prevalence of obesity was 8.6%. Grade I obesity (67.5% was the most common pattern; others included grade II obesity (23.3% and grade III obesity (9.2%. Hypertension (42.7% was the most common cardio-metabolic morbidity. Others included low HDL-cholesterol (22.8%, diabetes mellitus (15.1%, high triglyceride (12.6%, high total cholesterol (9.2%, and high LDL-cholesterol (6.8%. Conclusion: Obesity and its cardio-metabolic morbidities exist among the study population. Anthropometric determination of obesity and screening for its associated cardio-metabolic co-morbidities should constitute clinical targets for intervention in primary care clinics.

Drug discovery strategies in the field of tumor energy metabolism: Limitations by metabolic flexibility and metabolic resistance to chemotherapy.

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Amoedo, N D; Obre, E; Rossignol, R

2017-08-01

The search for new drugs capable of blocking the metabolic vulnerabilities of human tumors has now entered the clinical evaluation stage, but several projects already failed in phase I or phase II. In particular, very promising in vitro studies could not be translated in vivo at preclinical stage and beyond. This was the case for most glycolysis inhibitors that demonstrated systemic toxicity. A more recent example is the inhibition of glutamine catabolism in lung adenocarcinoma that failed in vivo despite a strong addiction of several cancer cell lines to glutamine in vitro. Such contradictory findings raised several questions concerning the optimization of drug discovery strategies in the field of cancer metabolism. For instance, the cell culture models in 2D or 3D might already show strong limitations to mimic the tumor micro- and macro-environment. The microenvironment of tumors is composed of cancer cells of variegated metabolic profiles, supporting local metabolic exchanges and symbiosis, but also of immune cells and stroma that further interact with and reshape cancer cell metabolism. The macroenvironment includes the different tissues of the organism, capable of exchanging signals and fueling the tumor 'a distance'. Moreover, most metabolic targets were identified from their increased expression in tumor transcriptomic studies, or from targeted analyses looking at the metabolic impact of particular oncogenes or tumor suppressors on selected metabolic pathways. Still, very few targets were identified from in vivo analyses of tumor metabolism in patients because such studies are difficult and adequate imaging methods are only currently being developed for that purpose. For instance, perfusion of patients with [ 13 C]-glucose allows deciphering the metabolomics of tumors and opens a new area in the search for effective targets. Metabolic imaging with positron emission tomography and other techniques that do not involve [ 13 C] can also be used to evaluate tumor

Metabolic imaging using SPECT

International Nuclear Information System (INIS)

Taki, Junichi; Matsunari, Ichiro

2007-01-01

In normal condition, the heart obtains more than two-thirds of its energy from the oxidative metabolism of long chain fatty acids, although a wide variety of substrates such as glucose, lactate, ketone bodies and amino acids are also utilised. In ischaemic myocardium, on the other hand, oxidative metabolism of free fatty acid is suppressed and anaerobic glucose metabolism plays a major role in residual oxidative metabolism. Therefore, metabolic imaging can be an important technique for the assessment of various cardiac diseases and conditions. In SPECT, several iodinated fatty acid traces have been introduced and studied. Of these, 123 I-labelled 15-(p-iodophenyl)3-R, S-methylpentadecanoic acid (BMIPP) has been the most commonly used tracer in clinical studies, especially in some of the European countries and Japan. In this review article, several fatty acid tracers for SPECT are characterised, and the mechanism of uptake and clinical utility of BMIPP are discussed in detail. (orig.)

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

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Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

2011-11-01

Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Clinical presentation of primary hypothyroidism

International Nuclear Information System (INIS)

Ahmed, B.; Hussain, T.; Memon, A. R.; Solangi, G. A.

2001-01-01

Objective: To determine the clinical preparation of primary hypothyroidism at the time of diagnosis. Design: It was an observational and prospective study. Place and Duration of Study: Civil Hospital, Karachi from 1st January 1997 to 31st December 1997. Subjects and Methods: Forty-eight consecutive cases of primary hypothyroidism were included. A detailed history with special emphasis on symptoms and signs was conducted and the findings observed were noted in previously made proforma. Results: Primary hypothyroidism was found to be 5 times more common in female patients, with male to female ratio 1:5, majority of cases (33.33%) were between 41 to 50 years of age. The common symptoms at the time of presentation were tiredness (95.8%), weakness (91.6%), weight gain (85.4%), hoarseness of voice (83.3%), cold intolerance (77.0%) and constipation (75.0%) in patients. Physical signs observed were delayed relaxation of ankle jerk (93.7%), periorbital edema (83.3%), thick tongue (62.5%), goiter (50.0%), dry and coarse skin (47.9%) in patients. Serum, TSH, T4 and T3 were performed in all cases through immunoradiometric technique. Serum TSH was markedly elevated, with normal to reduced T4 and T3 levels in all cases. Conclusion: Primary hypothyroidism was found more common in female than male of the age group 41-50 years. Weakness, tiredness, hoarseness of voice and constipation were the common symptoms noted. The diagnosis is almost certain on clinical grounds if the patient happens to have delayed relaxation of ankle jerks and periorbital puffiness. (author)

A Rare Clinical Presentation of Darier's Disease

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Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

2013-01-01

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae. PMID:23573430

Evidence-based treatment of metabolic myopathy

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Yan LIN

2014-05-01

remove pathogenic drugs and toxins. Conclusions Most of metabolic myopathies are genetic diseases, and they cannot achieve a radical cure at present. Gene therapy is the fundamental way. Endocrine myopathy and drug toxicity myopathy need to remove the primary affection or pathogenic drugs. Evidence-based medicine can provide the best clinical evidence assessment method for metabolic myopathy. doi: 10.3969/j.issn.1672-6731.2014.05.006

Metabolic vs. hedonic obesity: a conceptual distinction and its clinical implications

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Zhang, Y.; Mechanick, J. I.; Korner, J.; Peterli, R.

2015-01-01

Summary Body weight is determined via both metabolic and hedonic mechanisms. Metabolic regulation of body weight centres around the ‘body weight set point’, which is programmed by energy balance circuitry in the hypothalamus and other specific brain regions. The metabolic body weight set point has a genetic basis, but exposure to an obesogenic environment may elicit allostatic responses and upward drift of the set point, leading to a higher maintained body weight. However, an elevated steady‐state body weight may also be achieved without an alteration of the metabolic set point, via sustained hedonic over‐eating, which is governed by the reward system of the brain and can override homeostatic metabolic signals. While hedonic signals are potent influences in determining food intake, metabolic regulation involves the active control of both food intake and energy expenditure. When overweight is due to elevation of the metabolic set point (‘metabolic obesity’), energy expenditure theoretically falls onto the standard energy–mass regression line. In contrast, when a steady‐state weight is above the metabolic set point due to hedonic over‐eating (‘hedonic obesity’), a persistent compensatory increase in energy expenditure per unit metabolic mass may be demonstrable. Recognition of the two types of obesity may lead to more effective treatment and prevention of obesity. PMID:25588316

Exposure of clinical MRSA heterogeneous strains to β-lactams redirects metabolism to optimize energy production through the TCA cycle.

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Keaton, Mignon A; Rosato, Roberto R; Plata, Konrad B; Singh, Christopher R; Rosato, Adriana E

2013-01-01

Methicillin-resistant Staphylococcus aureus (MRSA) has emerged as one of the most important pathogens both in health care and community-onset infections. The prerequisite for methicillin resistance is mecA, which encodes a β-lactam-insensitive penicillin binding protein PBP2a. A characteristic of MRSA strains from hospital and community associated infections is their heterogeneous expression of resistance to β-lactam (HeR) in which only a small portion (≤ 0.1%) of the population expresses resistance to oxacillin (OXA) ≥ 10 µg/ml, while in other isolates, most of the population expresses resistance to a high level (homotypic resistance, HoR). The mechanism associated with heterogeneous expression requires both increase expression of mecA and a mutational event that involved the triggering of a β-lactam-mediated SOS response and related lexA and recA genes. In the present study we investigated the cellular physiology of HeR-MRSA strains during the process of β-lactam-mediated HeR/HoR selection at sub-inhibitory concentrations by using a combinatorial approach of microarray analyses and global biochemical profiling employing gas chromatography/mass spectrometry (GC/MS) and liquid chromatography/mass spectrometry (LC/MS) to investigate changes in metabolic pathways and the metabolome associated with β-lactam-mediated HeR/HoR selection in clinically relevant heterogeneous MRSA. We found unique features present in the oxacillin-selected SA13011-HoR derivative when compared to the corresponding SA13011-HeR parental strain that included significant increases in tricarboxyl citric acid (TCA) cycle intermediates and a concomitant decrease in fermentative pathways. Inactivation of the TCA cycle enzyme cis-aconitase gene in the SA13011-HeR strain abolished β-lactam-mediated HeR/HoR selection demonstrating the significance of altered TCA cycle activity during the HeR/HoR selection. These results provide evidence of both the metabolic cost and the adaptation that He

Exposure of clinical MRSA heterogeneous strains to β-lactams redirects metabolism to optimize energy production through the TCA cycle.

Directory of Open Access Journals (Sweden)

Mignon A Keaton

Full Text Available Methicillin-resistant Staphylococcus aureus (MRSA has emerged as one of the most important pathogens both in health care and community-onset infections. The prerequisite for methicillin resistance is mecA, which encodes a β-lactam-insensitive penicillin binding protein PBP2a. A characteristic of MRSA strains from hospital and community associated infections is their heterogeneous expression of resistance to β-lactam (HeR in which only a small portion (≤ 0.1% of the population expresses resistance to oxacillin (OXA ≥ 10 µg/ml, while in other isolates, most of the population expresses resistance to a high level (homotypic resistance, HoR. The mechanism associated with heterogeneous expression requires both increase expression of mecA and a mutational event that involved the triggering of a β-lactam-mediated SOS response and related lexA and recA genes. In the present study we investigated the cellular physiology of HeR-MRSA strains during the process of β-lactam-mediated HeR/HoR selection at sub-inhibitory concentrations by using a combinatorial approach of microarray analyses and global biochemical profiling employing gas chromatography/mass spectrometry (GC/MS and liquid chromatography/mass spectrometry (LC/MS to investigate changes in metabolic pathways and the metabolome associated with β-lactam-mediated HeR/HoR selection in clinically relevant heterogeneous MRSA. We found unique features present in the oxacillin-selected SA13011-HoR derivative when compared to the corresponding SA13011-HeR parental strain that included significant increases in tricarboxyl citric acid (TCA cycle intermediates and a concomitant decrease in fermentative pathways. Inactivation of the TCA cycle enzyme cis-aconitase gene in the SA13011-HeR strain abolished β-lactam-mediated HeR/HoR selection demonstrating the significance of altered TCA cycle activity during the HeR/HoR selection. These results provide evidence of both the metabolic cost and the

Clinical presentation and evaluation of dermatomyositis

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Umaima Marvi

2012-01-01

Full Text Available Dermatomyositis (DM is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron′s papules, Gottron′s sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic′s hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.

Carboxylesterases in lipid metabolism: from mouse to human

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Jihong Lian

2017-07-01

Full Text Available ABSTRACT Mammalian carboxylesterases hydrolyze a wide range of xenobiotic and endogenous compounds, including lipid esters. Physiological functions of carboxylesterases in lipid metabolism and energy homeostasis in vivo have been demonstrated by genetic manipulations and chemical inhibition in mice, and in vitro through (overexpression, knockdown of expression, and chemical inhibition in a variety of cells. Recent research advances have revealed the relevance of carboxylesterases to metabolic diseases such as obesity and fatty liver disease, suggesting these enzymes might be potential targets for treatment of metabolic disorders. In order to translate pre-clinical studies in cellular and mouse models to humans, differences and similarities of carboxylesterases between mice and human need to be elucidated. This review presents and discusses the research progress in structure and function of mouse and human carboxylesterases, and the role of these enzymes in lipid metabolism and metabolic disorders.

[DYNAMIC OF CLINICAL, LABORATORY AND SONOGRAPHIC PARAMETERS AFTER SUCCESSFUL LITHOLITIC THERAPY AT PATIENTS WITH GALLSTONE DISEASE IN ASSOCIATION WITH METABOLIC SYNDROME].

Science.gov (United States)

Gaus, O V; Akhmedov, V A

2015-01-01

The aim of study was to determine the leading clinical, immunological and sonographic pararneters, reflecting the efficiency of Ursodeoxycholic acid (UDCA) at the rate of 10 mg per 1 kg of body weight in the treatment of gallstone disease in patients with metabolic syndrome (MS). An assessment of clinical, biochemical immunological and sonographic parameters in 54 patients with gallstone disease associated with the metabolic syndrome before and after the six-month treatment UDCA were made. In accordance with our results the significant predictors, reflecting successful litholitic therapy at patients with gallstone disease in association with metabolic syndrome are decrease the serum concentration of gamma-glutamyltranspeptidase (P = 0.003), matrix metalloproteinase-9 (P = 0.001), increase the serum concentration of tissue inhibitor of metalloproteinases-1 (P = 0.02), decrease the left liver lobe thickness (P = 0,003) and the thickness of gallbladder wall (P = 0.0002). The results of our study have shown that the therapy with ursodesoxycholic acid of patients with metabolic syndrome leads to decrease of factors of gallstone progression (elevated levels of gamma-glutamyltranspeptidase, matrix metalloproteinase-9 and increased thickness of the left lobe liver and gallbladder wall).

Subacute Thyroiditis: Clinical Presentation and Long Term Outcome

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Alfadda, Assim A.; Sallam, Reem M.; Elawad, Ghadi E.; AlDhukair, Hisham; Alyahya, Mossaed M.

2014-01-01

Few studies have been reported from the Kingdom of Saudi Arabia (SA) to describe the clinical presentation and long term outcomes of subacute thyroiditis (SAT). Our aim was to review the demographic, anthropometric, clinical presentation, laboratory results, treatment, and disease outcome in Riyadh region and to compare those with results from different regions of the Kingdom and different parts of the world. We reviewed the medical files of patients who underwent thyroid uptake scan during an 8-year period in King Khalid University Hospital. Only 25 patients had confirmed diagnosis of thyroiditis. Age and gender distribution were similar to other studies. Most patients presented with palpitation, goiter, and weight change. Elevated thyroid hormones, suppressed thyroid-stimulating hormone, and elevated ESR were reported. Among those, 7 cases of SAT were recorded. β-Blockers were prescribed to 57% and nonsteroidal anti-inflammatory drugs to 29% of SAT. Long follow-up demonstrated that 85.7% of SAT cases recovered, while 14.3% developed permanent hypothyroidism. In conclusion, SAT is uncommon in the central region of SA. Compared to the western region, corticosteroid is not commonly prescribed, and permanent hypothyroidism is not uncommon. A nation-wide epidemiological study to explain these interprovincial differences is warranted. PMID:24803929

Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's ...

African Journals Online (AJOL)

hanumantp

MPS is a group of metabolic disorders caused by absence or malfunctioning of the lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs).[1]. Children with MPs either do not produce enough of one of the two enzymes required to break down the sugar chains into proteins and simpler ...

Metabolic and Pharmacokinetic Differentiation of STX209 and Racemic Baclofen in Humans

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Raymundo Sanchez-Ponce

2012-09-01

Full Text Available STX209 is an exploratory drug comprising the single, active R-enantiomer of baclofen which is in later stage clinical trials for the treatment of fragile x syndrome (FXS and autism spectrum disorders (ASD. New clinical data in this article on the metabolism and pharmacokinetics of the R- and S-enantiomers of baclofen presents scientific evidence for stereoselective metabolism of only S-baclofen to an abundant oxidative deamination metabolite that is sterically resolved as the S-enantiomeric configuration. This metabolite undergoes some further metabolism by glucuronide conjugation. Consequences of this metabolic difference are a lower Cmax and lower early plasma exposure of S-baclofen compared to R-baclofen and marginally lower urinary excretion of S-baclofen after racemic baclofen administration. These differences introduce compound-related exposure variances in humans in which subjects dosed with racemic baclofen are exposed to a prominent metabolite of baclofen whilst subjects dosed with STX209 are not. For potential clinical use, our findings suggest that STX209 has the advantage of being a biologically defined and active enantiomer.

Seminoma testicular form unusual presentation and clinical course

International Nuclear Information System (INIS)

Roldán G, Arén O.; Varangot, M.; Levin, R.; Delgado, L.; Viola, A.; Vázquez, A.; Musé, I.

2004-01-01

Introduction: The recognized sensitivity to treatment (tto) onco specific tumors testicular germ, and in particular the range seminoma, makes the finding of patients (ptes) having a poor outcome and lack of response to it, represents a striking fact. The high rate of redemption described in ptes relapsing after response to first line tto, confronted with identifying ptes that require the design of therapeutic strategies multidisciplinary individualized resistant to the presence of residual masses. Patients and methods: From the presentation of 6 clinical cases of carriers ptes seminoma (TS) with unusual clinical presentation and evolution, is performed literature review including: 1 Relapse of stage I ptes with TS after adjuvant radiotherapy - Cases No. 1 and 2 2 primary retroperitoneal seminoma - Clinical Case 3 3 oncospecific treatment refractory seminoma - Clinical cases 4, 5 and 6 discussion:1. TS stage I ptes with complementary receiving interval reaches radiant tto Progression-free 98% at 5 years and an overall survival of 94% at 10 years. In cases we report only the lung relapse (case 1) and bone (case 2) are evident to 17 and 12 months after diagnosis. The role of surgery and salvage chemotherapy is emphasized, and the poor prognosis of the unusual second relapse. 2 TS retroperitoneal extragonadal start is, according to the literature, less frequent than primarily mediastinal. Moreover, within this group 83% corresponds to non-seminoma. Chemotherapy is the tto of choice with 88% of without overall differences from the beginning of mediastinal survival. 3 Carriers ptes advanced seminoma treated with cisplatin-based chemotherapy (cisplatin with or without bleomycin -etopósido) achieve 70-90% complete responses. approximately 50% of carriers, a second relapse achieved complete response with vinblastine - ifosfamide and cisplatin (VIP). Given the low frequency of this situation, the role of High-dose chemotherapy with stem cell transplantation in patients

A prospective cohort study of the clinical presentation of non-traumatic osteonecrosis of the femoral head: spine and knee symptoms as clinical presentation of hip osteonecrosis.

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Hauzeur, Jean-Philippe; Malaise, Michel; de Maertelaer, Viviane

2016-07-01

To study the clinical presentation of femoral head osteonecrosis (ONFH). Publications dedicated to this aspect of ONFH are rare. Our aim was to systematically collect and describe the clinical data. A prospective survey was conducted in a cohort of ONFH recruited from a dedicated clinic for osteonecrosis. The history of symptoms, medical management, and physical findings were obtained from 88 patients suffering from 125 ONFH. Subgroups were formed: bilateral versus unilateral ONFH, radiological stages 1-2 (pre-fractured) versus fractured stage 3 versus stage 4. ONFH was bilateral in 63 %, especially in corticosteroid users and in sickle-cell cases. These patients were younger but had similar BMIs compared to the unilateral cases. The pain was mechanical in 79 % of hips and inflammatory in 21 %. Acute pain at the onset was present in 55 % of hips. The localization of this pain was variable, including in the groin, the buttocks, or diffused in the lower limbs. A limp was present in 50 % of the patients, only when one hip was painful. The physical examination of the hip was normal in 31 %, especially in stages 1-2 (55 %). The diagnosis delay was 12 months, with inadequate medical management in 51 % of patients. In ONFH cases, no typical clinical pattern was found. The clinical presentation was very variable, sometimes having spine or knee symptoms with a normal physical examination of the hip. ONFH should be systematically suspected in cases of onset of pain in the pelvis, buttocks, groin, and lower limbs.

Clinical presentation of fecal incontinence and anorectal function: what is the relationship?

NARCIS (Netherlands)

Deutekom, Marije; Dobben, Annette C.; Terra, Maaike P.; Engel, Alexander F.; Stoker, Jaap; Bossuyt, Patrick M. M.; Boeckxstaens, Guy E. E.

2007-01-01

OBJECTIVES: Fecal incontinence is classified into various types: passive, urge, and combined. Its clinical presentation is thought to be related to the underlying physiological or anatomical abnormality. The aim of the present study was to evaluate the associations between the frequency of clinical

(1)H-Nuclear magnetic resonance-based plasma metabolic profiling of dairy cows with clinical and subclinical ketosis.

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Sun, L W; Zhang, H Y; Wu, L; Shu, S; Xia, C; Xu, C; Zheng, J S

2014-03-01

The purpose of this study was to assess the metabolic profile of plasma samples from cows with clinical and subclinical ketosis. According to clinical signs and 3-hydroxybutyrate plasma levels, 81 multiparous Holstein cows were selected from a dairy farm 7 to 21 d after calving. The cows were divided into 3 groups: cows with clinical ketosis, cows with subclinical ketosis, and healthy control cows. (1)H-Nuclear magnetic resonance-based metabolomics was used to assess the plasma metabolic profiles of the 3 groups. The data were analyzed by principal component analysis, partial least squares discriminant analysis, and orthogonal partial least-squares discriminant analysis. The differences in metabolites among the 3 groups were assessed. The orthogonal partial least-squares discriminant analysis model differentiated the 3 groups of plasma samples. The model predicted clinical ketosis with a sensitivity of 100% and a specificity of 100%. In the case of subclinical ketosis, the model had a sensitivity of 97.0% and specificity of 95.7%. Twenty-five metabolites, including acetoacetate, acetone, lactate, glucose, choline, glutamic acid, and glutamine, were different among the 3 groups. Among the 25 metabolites, 4 were upregulated, 7 were downregulated, and 14 were both upregulated and downregulated. The results indicated that plasma (1)H-nuclear magnetic resonance-based metabolomics, coupled with pattern recognition analytical methods, not only has the sensitivity and specificity to distinguish cows with clinical and subclinical ketosis from healthy controls, but also has the potential to be developed into a clinically useful diagnostic tool that could contribute to a further understanding of the disease mechanisms. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Risk factors, pre-presentation management and clinical state of ...

African Journals Online (AJOL)

2017-08-23

Aug 23, 2017 ... based on provision of clean water sources, basic hygiene. CC –BY ... clinical state at presentation, management, and outcome were documented. Data was entered ... WHBPF = Washes hands before preparing food. WHBF =.

Clinical pathological and genetic analysis of 2 cases of mitochondrial myopathy presented as acute motor axonal neuropathy

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Hou-min YIN

2014-06-01

Full Text Available Background The main clinical manifestations of mitochondrial myopathy are chronic limb weakness and muscular soreness. Subclinical peripheral nerve injury is also reported, but acute axonal neuropathy.like syndrome concurrent with lactic acidosis is rare. In this paper the clinical features of 2 patients presenting as acute lactic acidosis and sudden muscle weakness were analyzed. Pathological changes and genetic mutations were detected.  Methods Electromyography (EMG and muscle biopsy were performed. Modified Gomori trichrome (MGT and succinodehydrogenase (SDH staining were used to identify pathological changes. Changes of ultra microstructure of muscular tissue were observed under electron microscope. Mitochondrial DNA (mtDNA full length sequencing was performed using 24 pairs of partially overlapping primers.  Results EMG showed a coexistence of neurogenic and myogenic changes. Dramatic decrease of motor nerve amplitude and moderately reduced sensory nerve amplitude were observed but nerve conduction velocity was normal in both patients. Impressive ragged red fibers were seen on MGT staining. Electron microscope showed dramatic mitochondrial abnormalities in Case 1 and paracrystaline inclusions in Case 2. mtDNA sequencing showed 3243A > G mutation in Case 1 and 8344A > G mutation in Case 2. Conclusions Mitochondrial myopathy can present as metabolic crisis like acute lactic acidosis, dyspnea and acute motor axonal neuropathy.like syndrome. It is a life.threatening phenotype that needs more attention. doi: 10.3969/j.issn.1672-6731.2014.06.007

Longitudinal Omics Modelling and Integration in Clinical Metabonomics Research: challenges in childhood metabolic health research

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Peter eSperisen

2015-08-01

Full Text Available Systems biology is an important approach for deciphering the complex processes in health maintenance and the etiology of metabolic diseases. Such integrative methodologies will help better understand the molecular mechanisms involved in growth and development throughout childhood, and consequently will result in new insights about metabolic and nutritional requirements of infants, children and adults. To achieve this, a better understanding of the physiological processes at anthropometric, cellular and molecular level for any given individual is needed. In this respect, novel omics technologies in combination with sophisticated data modelling techniques are key. Due to the highly complex network of influential factors determining individual trajectories, it becomes imperative to develop proper tools and solutions that will comprehensively model biological information related to growth and maturation of our body functions. The aim of this review and perspective is to evaluate, succinctly, promising data analysis approaches to enable data integration for clinical research, with an emphasis on the longitudinal component. Approaches based on empirical and mechanistic modelling of omics data are essential to leverage findings from high dimensional omics datasets and enable biological interpretation and clinical translation. On the one hand, empirical methods, which provide quantitative descriptions of patterns in the data, are mostly used for exploring and mining datasets. On the other hand, mechanistic models are based on an understanding of the behavior of a system’s components and condense information about the known functions, allowing robust and reliable analyses to be performed by bioinformatics pipelines and similar tools. Herein, we will illustrate current examples, challenges and perspectives in the applications of empirical and mechanistic modelling in the context of childhood metabolic health research.

Metabolic vs. hedonic obesity: a conceptual distinction and its clinical implications.

Science.gov (United States)

Yu, Y-H; Vasselli, J R; Zhang, Y; Mechanick, J I; Korner, J; Peterli, R

2015-03-01

Body weight is determined via both metabolic and hedonic mechanisms. Metabolic regulation of body weight centres around the 'body weight set point', which is programmed by energy balance circuitry in the hypothalamus and other specific brain regions. The metabolic body weight set point has a genetic basis, but exposure to an obesogenic environment may elicit allostatic responses and upward drift of the set point, leading to a higher maintained body weight. However, an elevated steady-state body weight may also be achieved without an alteration of the metabolic set point, via sustained hedonic over-eating, which is governed by the reward system of the brain and can override homeostatic metabolic signals. While hedonic signals are potent influences in determining food intake, metabolic regulation involves the active control of both food intake and energy expenditure. When overweight is due to elevation of the metabolic set point ('metabolic obesity'), energy expenditure theoretically falls onto the standard energy-mass regression line. In contrast, when a steady-state weight is above the metabolic set point due to hedonic over-eating ('hedonic obesity'), a persistent compensatory increase in energy expenditure per unit metabolic mass may be demonstrable. Recognition of the two types of obesity may lead to more effective treatment and prevention of obesity. © 2015 The Authors. Obesity Reviews published by John Wiley & Sons Ltd on behalf of International Association for the Study of Obesity (IASO).

Clinical presentation of retinoblastoma in Alexandria: A step toward earlier diagnosis.

Science.gov (United States)

Soliman, Sameh E; Eldomiaty, Wesam; Goweida, Mohamed B; Dowidar, Amgad

2017-01-01

To evaluate the clinical presentation of retinoblastoma in Alexandria, Egypt, correlate the timing of accurate diagnosis with the presence of advanced disease and identify causes of delayed presentation. Retrospective noncomparative single institution study reviews demographic and clinical data of all new children with retinoblastoma presenting to Alexandria Main University ocular oncology clinic (OOC) from January 2012 to June 2014. Diagnosis time was from initial parental complaint to retinoblastoma diagnosis and referral time was from retinoblastoma diagnosis to presentation to the Alexandria OCC. Delayed Diagnosis and referral were counted if >2 weeks. Advanced presentation is defined as clinical TNMH (8th edition) staging of cT2 or cT3 (international intraocular retinoblastoma classification group D or E) in at least one eye or the presence of extra-ocular disease (cT4). Seventy eyes of 47 children were eligible: 52% unilateral, 7% with family history and 96% presented with leukocorea. Sixty-four percent of children had advanced intraocular disease and none had extra-ocular disease. Delayed presentation occurred in 58% of children and was significantly associated with advanced disease in both unilaterally and bilaterally affected children (p = 0.003, 0.002 respectively). The delay in diagnosis was more in unilateral cases while the delay in referral was more in bilateral cases. The main cause of delayed presentation in unilateral retinoblastoma was misdiagnosis (30%) while parental shopping for second medical opinion (30%) was the main cause in bilateral children. Delayed diagnosis is a problem affecting retinoblastoma management. Better medical education and training, health education and earlier screening are recommended to achieve earlier diagnosis.

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Science.gov (United States)

Calcagni, Giulio; Adorisio, Rachele; Martinelli, Simone; Grutter, Giorgia; Baban, Anwar; Versacci, Paolo; Digilio, Maria Cristina; Drago, Fabrizio; Gelb, Bruce D; Tartaglia, Marco; Marino, Bruno

2018-04-01

RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy. Copyright © 2017 Elsevier Inc. All rights reserved.

The When, What & How of Measuring Vitamin D Metabolism in Clinical Medicine.

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Dirks, Niek F; Ackermans, Mariëtte T; Lips, Paul; de Jongh, Renate T; Vervloet, Marc G; de Jonge, Robert; Heijboer, Annemieke C

2018-04-13

We now have the ability to measure a number of different vitamin D metabolites with very accurate methods. The most abundant vitamin D metabolite, 25-hydroxyvitamin D, is currently the best marker for overall vitamin D status and is therefore most commonly measured in clinical medicine. The added value of measuring metabolites beyond 25-hydroxyvitamin D, like 1,25-, and 24,25-dihydroxyvitamin D is not broadly appreciated. Yet, in some more complicated cases, these metabolites may provide just the information needed for a legitimate diagnosis. The problem at present, is knowing when to measure, what to measure and how to measure. For 25-hydroxyvitamin D, the most frequently used automated immunoassays do not meet the requirements of today's standards for certain patient groups and liquid chromatography-tandem mass spectrometry is the desired method of choice in these individuals. The less frequently measured 1,25-dihydroxyvitamin D metabolite enables us to identify a number of conditions, including 1α-hydroxylase deficiency, hereditary vitamin D-resistant rickets and a number of granulomatous diseases or lymphoproliferative diseases accompanied by hypercalcaemia. Furthermore, it discriminates between the FGF23-mediated and non-FGF23-mediated hypophosphatemic syndromes. The 24,25-dihydroxyvitamin D metabolite has proven its value in the diagnosis of idiopathic infantile hypercalcaemia and has the potential of having value in identifying other diseases. For both metabolites, the understanding of the origin of differences between assays is limited and requires further attention. Nonetheless, in every way, appropriate measurement of vitamin D metabolism in the clinical laboratory hinges eminently on the comprehension of the value of the different metabolites, and the importance of the choice of method.

Osteosarcoma of the Maxilla: A Rare Case with Unusual Clinical Presentation

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Pouyan Amini Shakib

2013-08-01

Full Text Available Osteosarcoma (OS is a malignant mesenchymal tumor, which rarely occurs in the maxilla. Although variable histologic and radiographic features of OS have been reported previously, in the majority of the cases painful swelling of the jaw is mentioned as the first clinical presentation. Furthermore, early diagnosis and wide surgical resection of the tumor are the most important determinant factors of prognosis. Therefore, the unusual clinical presentations of OS should be considered meticulously to expedite the diagnosis process. We describe a case of OS of the maxilla with extremely unusual presentation in a 42-year-old female, that was initially designated as “epulis fissuratum”. Here, we highlight the importance of combining the clinical, radiographic and histopathologic examination to obtain a definitive diagnosis and also the significance of early effective surgical intervention in evaluation of pathologic lesions.

Mechanisms of metabolic dysfunction in cancer-associated cachexia

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Petruzzelli, Michele; Wagner, Erwin F.

2016-01-01

Metabolic dysfunction contributes to the clinical deterioration observed in advanced cancer patients and is characterized by weight loss, skeletal muscle wasting, and atrophy of the adipose tissue. This systemic syndrome, termed cancer-associated cachexia (CAC), is a major cause of morbidity and mortality. While once attributed solely to decreased food intake, the present description of cancer cachexia is a disorder of multiorgan energy imbalance. Here we review the molecules and pathways responsible for metabolic dysfunction in CAC and the ideas that led to the current understanding. PMID:26944676

Pes anserine bursitis: incidence in symptomatic knees and clinical presentation

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Rennie, W.J. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); Saifuddin, A. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London, Institute of Orthopaedics and Musculoskeletal Sciences (United Kingdom)

2005-07-01

To determine the prevalence and associated clinical symptoms of pes anserine bursitis in symptomatic adult knees. A retrospective review was performed of the reports of 509 knee MRI studies obtained from July 1998 to June 2004 on 488 patients presenting to an orthopaedic clinic with knee pain suspected to be due to internal derangement. The MRI studies and case histories of all patients reported to have pes anserine bursitis were reviewed. The management of these patients was also noted. The prevalence of pes anserine bursitis as detected on MRI is 2.5%. The commonest clinical presentation was pain along the medial joint line mimicking a medial meniscal tear. We suggest that an accurate diagnosis of pes anserine bursitis on MRI will help prevent unnecessary arthroscopy and possibly initiate early treatment of the condition. Axial imaging is important in these cases to differentiate the bursa from other medial fluid collections. (orig.)

Pes anserine bursitis: incidence in symptomatic knees and clinical presentation

International Nuclear Information System (INIS)

Rennie, W.J.; Saifuddin, A.

2005-01-01

To determine the prevalence and associated clinical symptoms of pes anserine bursitis in symptomatic adult knees. A retrospective review was performed of the reports of 509 knee MRI studies obtained from July 1998 to June 2004 on 488 patients presenting to an orthopaedic clinic with knee pain suspected to be due to internal derangement. The MRI studies and case histories of all patients reported to have pes anserine bursitis were reviewed. The management of these patients was also noted. The prevalence of pes anserine bursitis as detected on MRI is 2.5%. The commonest clinical presentation was pain along the medial joint line mimicking a medial meniscal tear. We suggest that an accurate diagnosis of pes anserine bursitis on MRI will help prevent unnecessary arthroscopy and possibly initiate early treatment of the condition. Axial imaging is important in these cases to differentiate the bursa from other medial fluid collections. (orig.)

Clinic exam room design: present and future.

Science.gov (United States)

Freihoefer, Kara; Nyberg, Gary; Vickery, Christine

2013-01-01

This article aims to deconstruct various design qualities and strategies of clinic exam rooms, and discuss how they influence users' interaction and behavior in the space. Relevant literature supports the advantages and disadvantages of different design strategies. Annotated exam room prototypes illustrate the design qualities and strategies discussed. Advancements in technology and medicine, along with new legislative policies, are influencing the way care providers deliver care and ultimately clinic exam room designs. The patient-centered medical home model has encouraged primary care providers to make patients more active leaders of their health plan which will influence the overall functionality and configuration of clinic exam rooms. Specific design qualities discussed include overall size, location of doors and privacy curtains, positioning of exam tables, influence of technology in the consultation area, types of seating, and placement of sink and hand sanitizing dispensers. In addition, future trends of exam room prototypes are presented. There is a general lack of published evidence to support design professionals' design solutions for outpatient exam rooms. Future research should investigate such topics as the location of exam tables and privacy curtains as they relate to patient privacy; typical size and location of consultation table as it relates to patient connection and communication; and placement of sinks and sanitization dispensers as they relate to frequency and patterns of usage. Literature review, outpatient, technology, visual privacy.

Investigation of metabolic encephalopathy

African Journals Online (AJOL)

cycle defects is the X-linked recessive disorder, ornithine ... life, or if the child is fed the compounds that they are unable .... as learning difficulties, drowsiness and avoidance of ... Table 2. Laboratory investigation of suspected metabolic encephalopathy. Laboratory .... Clinical approach to treatable inborn metabolic diseases:.

Amphetamine, past and present – a pharmacological and clinical perspective

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Smith, Sharon L; Gosden, Jane; Nutt, David J

2013-01-01

Amphetamine was discovered over 100 years ago. Since then, it has transformed from a drug that was freely available without prescription as a panacea for a broad range of disorders into a highly restricted Controlled Drug with therapeutic applications restricted to attention deficit hyperactivity disorder (ADHD) and narcolepsy. This review describes the relationship between chemical structure and pharmacology of amphetamine and its congeners. Amphetamine’s diverse pharmacological actions translate not only into therapeutic efficacy, but also into the production of adverse events and liability for recreational abuse. Accordingly, the balance of benefit/risk is the key challenge for its clinical use. The review charts advances in pharmaceutical development from the introduction of once-daily formulations of amphetamine through to lisdexamfetamine, which is the first d-amphetamine prodrug approved for the management of ADHD in children, adolescents and adults. The unusual metabolic route for lisdexamfetamine to deliver d-amphetamine makes an important contribution to its pharmacology. How lisdexamfetamine’s distinctive pharmacokinetic/pharmacodynamic profile translates into sustained efficacy as a treatment for ADHD and its reduced potential for recreational abuse is also discussed. PMID:23539642

Hypophosphatemic osteomalacia: an unusual clinical presentation of multiple myeloma.

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Reyskens, M; Sleurs, K; Verresen, L; Janssen, M; van den Bergh, J; van den Berg, J; Geusens, P

2015-07-01

An unusual case of a 75-year-old man is presented who had multiple stress fractures due to adult onset hypophosphatemic osteomalacia, which was the result of Fanconi syndrome, with light chain cast proximal tubulopathy due to multiple myeloma. A 75-year-old man presented with diffuse pain and muscle weakness. He had multiple stress fractures, low serum phosphate, decreased renal tubular reabsorption of phosphate, and normal PTH and FGF23, indicating adult onset hypophosphatemic osteomalacia. Phosphate supplements with calcitriol resulted in clinical recovery and healing of stress fractures. Because of proteinuria, a renal biopsy was performed that revealed Fanconi syndrome with light chain cast proximal tubulopathy and light kappa chains were found in serum and urine. A bone biopsy confirmed the diagnosis of multiple myeloma, and treatment with chemotherapy resulted in cytological and clinical recovery.

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

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Ibarra-González Isabel MSc

2014-04-01

Full Text Available Inborn errors of intermediary metabolism (IEiM are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections actually decompensate in the neonatal period. In this study, we performed metabolic tests on 2025 newborns in Mexico admitted to 35 neonatal intensive care units or emergency wards (NICUs/EWs over a 6-year period, in whom a metabolic disorder was clinically suspected. Of these 2025 newborns with sickness, 11 had IEiM, revealing a prevalence of 1:184. Clinical characteristics and outcomes of the newborns with confirmed IEiM are shown. Of these 11 patients, 4 had isolated methylmalonic acidemia, 3 had maple syrup urine disease, 2 had urea cycle disorders, 1 had 3-hydroxy-3-methylglutaric acidemia, and 1 had isovaleric acidemia. During the first week of life (average 3 days, all of these newborns presented with impaired alertness, hypotonia, feeding difficulties, and vomiting along with metabolic acidosis and hyperammonemia. Of the 11 newborns with IEiM, 7 died, leading to a mortality rate of 64%. In conclusion, the differential diagnosis of newborns admitted to the NICU/EW must include IEiM, requiring systematic screening of this population.

Metabolic fuel and clinical implications for female reproduction.

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Mircea, Carmen N; Lujan, Marla E; Pierson, Roger A

2007-11-01

Reproduction is a physiologically costly process that consumes significant amounts of energy. The physiological mechanisms controlling energy balance are closely linked to fertility. This close relationship ensures that pregnancy and lactation occur only in favourable conditions with respect to energy. The primary metabolic cue that modulates reproduction is the availability of oxidizable fuel. An organism's metabolic status is transmitted to the brain through metabolic fuel detectors. There are many of these detectors at both the peripheral (e.g., leptin, insulin, ghrelin) and central (e.g., neuropeptide Y, melanocortin, orexins) levels. When oxidizable fuel is scarce, the detectors function to inhibit the release of gonadotropin-releasing hormone and luteinizing hormone, thereby altering steroidogenesis, reproductive cyclicity, and sexual behaviour. Infertility can also result when resources are abundant but food intake fails to compensate for increased energy demands. Examples of these conditions in women include anorexia nervosa and exercise-induced amenorrhea. Infertility associated with obesity appears to be less related to an effect of oxidizable fuel on the hypothalamic-pituitary-ovarian axis. Impaired insulin sensitivity may play a role in the etiology of these conditions, but their specific etiology remains unresolved. Research into the metabolic regulation of reproductive function has implications for elucidating mechanisms of impaired pubertal development, nutritional amenorrhea, and obesity-related infertility. A better understanding of these etiologies has far-reaching implications for the prevention and management of reproductive dysfunction and its associated comorbidities.

Clinical presentation of neurocysticercosis-related epilepsy.

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Duque, Kevin R; Burneo, Jorge G

2017-11-01

Neurocysticercosis (NCC) is the most common parasitic infection of the central nervous system and a major risk factor for seizures and epilepsy. Seizure types in NCC vary largely across studies and seizure semiology is poorly understood. We discuss here the studies regarding seizure types and seizure semiology in NCC, and examine the clinical presentation in patients with NCC and drug-resistant epilepsy. We also provide evidence of the role of MRI and EEG in the diagnosis of NCC-related epilepsy. Focal seizures are reported in 60-90% of patients with NCC-related epilepsy, and around 90% of all seizures registered prospectively are focal not evolving to bilateral tonic-clonic seizures. A great number of cases suggest that seizure semiology is topographically related to NCC lesions. Patients with hippocampal sclerosis and NCC have different clinical and neurophysiological characteristics than those with hippocampal sclerosis alone. Different MRI protocols have allowed to better differentiate NCC from other etiologies. Lesions' stages might account on the chances of finding an interictal epileptiform discharge. Studies pursuing the seizure onset in patients with NCC are lacking and they are specially needed to determine both whether the reported events of individual cases are seizures, and whether they are related to the NCC lesion or lesions. This article is part of a Special Issue entitled "Neurocysticercosis and Epilepsy". Copyright © 2017 Elsevier Inc. All rights reserved.

Interdependence of nutrient metabolism and the circadian clock system: Importance for metabolic health

Science.gov (United States)

Ribas-Latre, Aleix; Eckel-Mahan, Kristin

2016-01-01

Background While additional research is needed, a number of large epidemiological studies show an association between circadian disruption and metabolic disorders. Specifically, obesity, insulin resistance, cardiovascular disease, and other signs of metabolic syndrome all have been linked to circadian disruption in humans. Studies in other species support this association and generally reveal that feeding that is not in phase with the external light/dark cycle, as often occurs with night or rotating shift workers, is disadvantageous in terms of energy balance. As food is a strong driver of circadian rhythms in the periphery, understanding how nutrient metabolism drives clocks across the body is important for dissecting out why circadian misalignment may produce such metabolic effects. A number of circadian clock proteins as well as their accessory proteins (such as nuclear receptors) are highly sensitive to nutrient metabolism. Macronutrients and micronutrients can function as zeitgebers for the clock in a tissue-specific way and can thus impair synchrony between clocks across the body, or potentially restore synchrony in the case of circadian misalignment. Circadian nuclear receptors are particularly sensitive to nutrient metabolism and can alter tissue-specific rhythms in response to changes in the diet. Finally, SNPs in human clock genes appear to be correlated with diet-specific responses and along with chronotype eventually may provide valuable information from a clinical perspective on how to use diet and nutrition to treat metabolic disorders. Scope of review This article presents a background of the circadian clock components and their interrelated metabolic and transcriptional feedback loops, followed by a review of some recent studies in humans and rodents that address the effects of nutrient metabolism on the circadian clock and vice versa. We focus on studies in which results suggest that nutrients provide an opportunity to restore or, alternatively

NEW METABOLIC INDEX USE POTENTIALITIES IN EVALUATION OF INSULIN RESISTANCE IN CLINICAL PRACTICE

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G. E. Roytberg

2015-09-01

Full Text Available Early diagnostics of insulin resistance (IR is one of the methods of primary prevention of cardio-vascular diseases and type 2 diabetes mellitus. The HOMA-IR index and ratio of plasma triglyceride to high-density lipoprotein cholesterol concentration are the most frequently used indices in clinical and epidemiological scientific research. Prognostic value and efficacy of these tests as a screening method are not high. What method of IR detection should be used in clinical practice and how to interpret received values of the indices is still a matter of dispute.Aim. To evaluate informative value, sensitivity and specificity of a new metabolic index (MI for IR estimation in comparison with the calculated HOMA-IR index.Material and methods. A total of 845 patients (298 men, 547 women were enrolled into the further study after an outpatient regular medical check-up of 2,615 persons. Mean age of the patients was 45.77±12.18 years, body mass index – 28.95±1.44 kg/m2. To evaluate lipid and carbohydrate metabolism blood chemistry parameters were assessed. IR was determined by the Homeostasis Model Assessment (HOMA-IR and an oblique calculated index based on lipid metabolism parameters. In accordance with the developed screening method of IR detection (invention patent № 2493566 MI considering carbohydrate and lipid changes was proposed.Results. Calculation of MI and its threshold level was performed by analysis of a characteristic curve. Graphical dependence between sensitivity and specificity of the proposed index was demonstrated: sensitivity of the test was 75.7%, specificity – 89.1%. Probability of IR at MI value >7.0 was 63.5% (positive predictive value, probability of IR absence at the index value ≤7.0 was 93.6% (negative predictive value. The general accuracy of the test, which is characterized by the area under the characteristic curve, was 0.881 with 95%-confidence interval within 0.854-0.905.Conclusion. The importance of negative

NEW METABOLIC INDEX USE POTENTIALITIES IN EVALUATION OF INSULIN RESISTANCE IN CLINICAL PRACTICE

Directory of Open Access Journals (Sweden)

G. E. Roytberg

2014-01-01

Full Text Available Early diagnostics of insulin resistance (IR is one of the methods of primary prevention of cardio-vascular diseases and type 2 diabetes mellitus. The HOMA-IR index and ratio of plasma triglyceride to high-density lipoprotein cholesterol concentration are the most frequently used indices in clinical and epidemiological scientific research. Prognostic value and efficacy of these tests as a screening method are not high. What method of IR detection should be used in clinical practice and how to interpret received values of the indices is still a matter of dispute.Aim. To evaluate informative value, sensitivity and specificity of a new metabolic index (MI for IR estimation in comparison with the calculated HOMA-IR index.Material and methods. A total of 845 patients (298 men, 547 women were enrolled into the further study after an outpatient regular medical check-up of 2,615 persons. Mean age of the patients was 45.77±12.18 years, body mass index – 28.95±1.44 kg/m2. To evaluate lipid and carbohydrate metabolism blood chemistry parameters were assessed. IR was determined by the Homeostasis Model Assessment (HOMA-IR and an oblique calculated index based on lipid metabolism parameters. In accordance with the developed screening method of IR detection (invention patent № 2493566 MI considering carbohydrate and lipid changes was proposed.Results. Calculation of MI and its threshold level was performed by analysis of a characteristic curve. Graphical dependence between sensitivity and specificity of the proposed index was demonstrated: sensitivity of the test was 75.7%, specificity – 89.1%. Probability of IR at MI value >7.0 was 63.5% (positive predictive value, probability of IR absence at the index value ≤7.0 was 93.6% (negative predictive value. The general accuracy of the test, which is characterized by the area under the characteristic curve, was 0.881 with 95%-confidence interval within 0.854-0.905.Conclusion. The importance of negative

Inflammation's Association with Metabolic Profiles before and after a Twelve-Week Clinical Trial in Drug-Naïve Patients with Bipolar II Disorder.

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Sheng-Yu Lee

Full Text Available Inflammation is thought to be involved in the pathophysiology of bipolar disorder (BP and metabolic syndrome. Prior studies evaluated the association between metabolic profiles and cytokines only during certain mood states instead of their changes during treatment. We enrolled drug-naïve patients with BP-II and investigated the correlation between changes in mood symptoms and metabolic indices with changes in plasma cytokine levels after 12 weeks of pharmacological treatment. Drug-naïve patients (n = 117 diagnosed with BP-II according to DSM-IV criteria were recruited. Metabolic profiles (cholesterol, triglyceride, HbA1C, fasting serum glucose, body mass index (BMI and plasma cytokines (TNF-α, CRP, IL-6, and TGF-β were measured at baseline and 2, 8, and 12 weeks post-treatment. To adjust within-subject dependence over repeated assessments, multiple linear regressions with generalized estimating equation methods were used. Seventy-six (65.0% patients completed the intervention. Changes in plasma CRP were significantly associated with changes in BMI (P = 1.7E-7 and triglyceride (P = 0.005 levels. Changes in plasma TGF-β1 were significantly associated with changes in BMI (P = 8.2E-6, cholesterol (P = 0.004, and triglyceride (P = 0.006 levels. However, changes in plasma TNF-α and IL-6 were not associated with changes in any of the metabolic indices. Changes in Hamilton Depression Rating Scale scores were significantly associated with changes in IL-6 (P = 0.003 levels; changes in Young Mania Rating Scale scores were significantly associated with changes in CRP (P = 0.006 and TNF-α (P = 0.039 levels. Plasma CRP and TGF-β1 levels were positively correlated with several metabolic indices in BP-II after 12 weeks of pharmacological intervention. We also hypothesize that clinical symptoms are correlated with certain cytokines. These new findings might be important evidence that inflammation is the pathophysiology

Lymphogranuloma Venereum 2015: Clinical Presentation, Diagnosis, and Treatment.

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Stoner, Bradley P; Cohen, Stephanie E

2015-12-15

Lymphogranuloma venereum (LGV) has emerged as an important cause of proctitis and proctocolitis in men who have sex with men; classical inguinal presentation is now increasingly uncommon. We report summary findings of an extensive literature review on LGV clinical presentation, diagnosis, and treatment that form the evidence base for the 2015 Centers for Disease Control and Prevention treatment guidelines for sexually transmitted diseases. Proctitis and proctocolitis are now the most commonly reported clinical manifestations of LGV, with symptoms resembling those of inflammatory bowel disease. Newer molecular tests to confirm LGV infection are sensitive and specific, but are generally restricted to research laboratory or public health settings. Doxycycline (100 mg twice daily for 21 days) remains the treatment of choice for LGV. Patients with rectal chlamydial infection and signs or symptoms of proctitis should be tested for LGV, or if confirmatory testing is not available, should be treated empirically with a recommended regimen to cover LGV infection. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Unusual clinical presentation of rare case of vaginal leiomyoma: a case report

OpenAIRE

Ishrat Zuber; Purnima K. Nadkarni; Aditi A. Nadkarni; Akshay Nadkarni

2016-01-01

Primary vaginal leiomyoma are rare and usually arise from anterior vaginal wall, approximately 330 cases of vaginal fibroid reported in world literature. Vaginal myoma usually presented as discharge per vaginum, abnormal bleeding, pain lower abdomen, dyspareunia etc. We report a case of primary vaginal leiomyoma arising from lateral vaginal wall which is presented clinically as pain in hip joint and radiating to ipsilateral leg which is unusual clinical presentation creating diagnostic dilemm...

Etiologies and clinical presentation of gigantism in Algeria.

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Chentli, Farida; Azzoug, Said; Amani, Mohammed El Amine; Haddam, Ali El Mahdi; Chaouki, Dalal; Meskine, Djamila; Chaouki, Mohamed Lamine

2012-01-01

True gigantism is an exceptional and fascinating pediatric disease. Our aim in this study was to describe the different etiologies of a large group of children with gigantism and the natural history of their growth. In this multicenter study, we considered as giant children, adolescents and adults whose heights were ≥3 SD compared to their target stature or to our population average lengths. Isolated hypogonadism and Klinefelter syndrome were excluded from this series. All underwent clinical exam, and hormonal and neurological investigations. From 1980 to 2010, we observed 30 giants: 26 males (86.6%) and 4 females (mean age 19.8 ± 11 years). Among the 13 patients (40.3%) who consulted before the age of 16 years, 9 had acromegaly and 6 had mental retardation and body malformations. Based on growth hormone (GH) secretion evaluation, 2 groups were observed: pituitary gigantism (n = 16): GH = 150 ± 252 ng/ml (n ≤ 5), and other causes with normal GH (0.7 ± 0.6 ng/ml): 6 Sotos syndrome and 8 idiopathic cases. Only the first group had neurological, ophthalmological, metabolic and cardiovascular complications and received treatment. The result was not optimal as GH normalization was not observed. Reduction of tumor size and decreased GH plasma values were not observed. Gigantism predominates in males. The main cause is GH excess. The diagnosis was very late except for cerebral gigantism. Complications were observed in pituitary gigantism only. Copyright © 2012 S. Karger AG, Basel.

A 10‑year Review of the Clinical Presentation and Treatment ...

African Journals Online (AJOL)

Case records of the patients were retrieved from medical records' Department. Sociodemographic and clinical information relating to clinical presentations, treatment modalities, and outcomes were collated. The data were analyzed using SPSS 16.0 Statistical Computer Package (SPSS Inc., IL, USA 2006). Chi‑square and ...

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Science.gov (United States)

Gromadzka, Graznya; Schmidt, Harmut H J; Genschel, Janine; Bochow, Bettina; Rodo, M; Tarnacka, Beatek; Litwin, Thomas; Chabik, Grzegorz; Członkowska, Anna

2006-02-01

We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventy-three patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influenced WD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations. Copyright (c) 2005 Movement Disorder Society.

Clinical Characteristics and Metabolic Features of Patients with Adrenal Incidentalomas with or without Subclinical Cushing's Syndrome

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Bo-Yeon Kim

2014-12-01

Full Text Available BackgroundThe aim of this study was to examine the clinical characteristics of adrenal incidentalomas discovered by computed tomography (CT and to investigate metabolic features of subclinical Cushing's syndrome (SCS in patients with adrenal incidentalomas in a tertiary hospital in Korea.MethodsThis retrospective study examined the clinical aspects of 268 patients with adrenal incidentalomas discovered by CT at Soonchunhyang University Bucheon Hospital. Clinical data and endocrine function of the patients as well as histological findings were obtained from medical records, while anatomic characteristics were analyzed by reviewing imaging studies. Hormonal tests for pheochromocytoma, Cushing's syndrome, and aldosterone-secreting adenoma were performed.ResultsMost (n=218, 81.3% cases were nonfunctioning tumors. Of the 50 patients with functioning tumors (18.7%, 19 (7.1% were diagnosed with SCS, nine (3.4% with overt Cushing's syndrome, 12 (4.5% with primary aldosteronism, and 10 (3.7% with pheochromocytoma. Malignant tumors (both primary and metastatic were rare (n=2, 0.7%. Body mass index, fasting glucose, hemoglobin A1c, and total cholesterol were significantly higher in patients with SCS in comparison with those with nonfunctioning tumors. The prevalence of type 2 diabetes mellitus and hypertension were significantly higher in patients with SCS compared with those with nonfunctioning tumors.ConclusionFunctioning tumors, especially those with subclinical cortisol excess, are commonly found in patients with adrenal incidentalomas, although malignancy is rare. In addition, patients with SCS in adrenal incidentalomas have adverse metabolic and cardiovascular profiles.

A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

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Thang S Han

2016-02-01

Full Text Available The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m 2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

The Influence of Clinical Experience and Photographic Presentation on Age Assessment of Women

DEFF Research Database (Denmark)

Nielsen, Barbara Rubek; Linneberg, Allan; Christensen, Kaare

2016-01-01

as the presentation of participants. OBJECTIVE: It is not known whether the clinical experience of the assessor or photographic presentation have an influence on the assessment of perceived age, which the present study aimed to investigate. METHODS: In a cross-sectional study of 460 women aged 25-93 years, 10...... body. Intra- and inter-assessor agreements between photographic presentations were similar among both assessor groups. The accuracy in age assessment was significantly influenced by the photographic presentation but not by the clinical experience of the assessor. The difference in the mean perceived...... both facial and whole-body photographs. A regression towards the mean age was seen. CONCLUSION: The assessment of perceived age was influenced by the photographic presentation but not by the clinical experience of the assessor....

Clinical research of bone scan characteristics for metabolic bone diseases

International Nuclear Information System (INIS)

Zhu Ruisen; Luo Qiong; Lu Haikui; Chen Libo; Luo Quanyong

2009-01-01

Characteristic images of 99m Tc-MDP bone scintigraphy in patients with metabolic bone diseases (MBD) were analyzed and compared, in an attempt to improve the capability of differential diagnosis in this aspect. A total of 142 cases, clinically confirmed as (MBD), were categorized into six groups: hyperparathyroidism (117), renal osteodystrophy (4), Paget's disease (16), hypophosphatemic osteomalacia (2), Albers-Schonberg disease (2), and Brittle bone disease (1). They were diagnosed clinically or pathologically, and scanned with 99m Tc-MDP bone scintegraphy, from which the 142 MBD cases were classified into 4 types. The cases of Type I had increased amount of 99m Tc-MDP uptake in whole body bones, including hyperparathyroidism, Albers-Schonberg disease, brittle bone disease and renal osteodystrophy. The cases of Type II had high uptake of 99m Tc-MDP in local region of bones, including paget's disease, hypophosphatemic osteomalacia and hyperparathyroidism. A Type I case with pathological fracture or secondary osteopathy was classified as Type III. Type IV cases were in early stage of hyperparathyroidism, with normal bone scan image. Analysis of the characteristics of 99m Tc-MDP bone scintigraphic findings (locations, morphology and intensities) in patients with MBD may be helpful in the differential diagnosis of MBD, in association with the patient's history and X-ray data altogether. (authors)

Clinical presentation of (subclinical) jaundice - The Euricterus project in The Netherlands

NARCIS (Netherlands)

Reisman, Y; Gips, CH; Lavelle, SM; Wilson, JHP

1996-01-01

Background: From a primary clinical database, rue wanted to obtain insight in disease distribution and clinical presentation of adult jaundiced patients in a Western country. Materials and Methods: As part of the Euricterus project, 24 Dutch general and academic hospitals in a period of 2 years

Aerobic fitness and metabolic health in children: A clinical validation of directly measured maximal oxygen consumption versus performance measures as markers of health.

Science.gov (United States)

Aadland, Eivind; Kvalheim, Olav Martin; Rajalahti, Tarja; Skrede, Turid; Resaland, Geir Kåre

2017-09-01

High aerobic fitness is consistently associated with a favorable metabolic health profile in children. However, measurement of oxygen uptake, regarded as the gold standard for evaluating aerobic fitness, is often not feasible. Thus, the aim of the present study was to perform a clinical validation of three measures of aerobic fitness (peak oxygen consumption [VO 2peak ] and time to exhaustion [TTE] determined from a graded treadmill protocol to exhaustion, and the Andersen intermittent running test) with clustered metabolic health in 10-year-old children. We included 93 children (55 boys and 38 girls) from Norway during 2012-2013 in the study. Associations between aerobic fitness and three different composite metabolic health scores (including lipoprotein subgroup particle concentrations, triglyceride, glucose, systolic blood pressure, and waist-to-height ratio) were determined by regression analyses adjusting for sex. The relationships among the measures of aerobic fitness were r  = 0.78 for VO 2peak vs. TTE, r  = 0.63 for VO 2peak vs. the Andersen test, and r  = 0.67 for TTE vs. the Andersen test. The Andersen test showed the strongest associations across all markers of metabolic health ( r  = - 0.45 to - 0.31, p  fitness do not stand back as markers of metabolic health status in children, compared to VO 2peak . This is of great importance as good field tests provide opportunities for measuring aerobic fitness in many settings where measuring VO 2peak are impossible.

Perforating pilomatrixoma showing atypical presentation: A rare clinical variant

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Nevra Seyhan

2018-03-01

Full Text Available Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor arising from hair follicle stem cells. The most common localization is the head and neck region. Female/male ratio is 3/2. It shows deep subcutaneous placement and occurs in the first two decades of life. Its diameter ranges from 0.5 cm to 3 cm. Multiple lesions are rarely seen. Histopathologically it is characterized by basoloid and ghost cells. Perforating type is a rare clinical variant. Treatment is surgical excision. Our case is presented to draw attention to a rare clinical variant of pilomatrixioma.

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach

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Swati Chaturvedi

2016-01-01

Full Text Available One of the extreme challenges in biology is to ameliorate the understanding of the mechanisms which emphasize metabolic enzyme deficiency (MED and how these pretend to have influence on human health. However, it has been manifested that MED could be either inherited as inborn error of metabolism (IEM or acquired, which carries a high risk of interrupted biochemical reactions. Enzyme deficiency results in accumulation of toxic compounds that may disrupt normal organ functions and cause failure in producing crucial biological compounds and other intermediates. The MED related disorders cover widespread clinical presentations and can involve almost any organ system. To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. In addition, the review also outlines the clinical presentations as well as diagnostic and therapeutic approaches.

Acral pityriasis versicolor – A rare clinical presentation

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Tasleem Arif

2015-04-01

Full Text Available Pityriasis versicolor is a superficial fungal infection of the skin caused by the yeast of the genus Malassezia and presents as hypo or hyper pigmented scaly macules. The most commonly affected sites include upper trunk, upper arms, neck and the abdomen. Lesions confined to the acral parts like hands and feet have rarely been reported. In this article the author reports a 40 year old male who presented with multiple hypo pigmented scaly macules confined to the acral parts (hands and wrist. The acral variant of pityriasis versicolor is considered to be a very rare clinical entity which prompted the author to report this case.

Herpes simplex and varicella zoster CNS infections: clinical presentations, treatments and outcomes.

Science.gov (United States)

Kaewpoowat, Quanhathai; Salazar, Lucrecia; Aguilera, Elizabeth; Wootton, Susan H; Hasbun, Rodrigo

2016-06-01

To describe the clinical manifestations, cerebrospinal fluid (CSF) characteristics, imaging studies and prognostic factors of adverse clinical outcomes (ACO) among adults with herpes simplex virus (HSV) or varicella zoster virus (VZV) CNS infections. Retrospective review of adult patients with positive HSV or VZV polymerase chain reaction on CSF from an observational study of meningitis or encephalitis in Houston, TX (2004-2014), and New Orleans, LA (1999-2008). Ninety-eight adults patients were identified; 25 had encephalitis [20 (20.4 %) HSV, 5 (5.1 %) VZV], and 73 had meningitis [60 (61.1 %) HSV and 13 (13.3 %) VZV]. HSV and VZV had similar presentations except for nausea (P 1 and an encephalitis presentation were independently associated with an ACO. The treatment for HSV meningitis was variable, and all patients had a good clinical outcome. Alpha herpes CNS infections due to HSV and VZV infections have similar clinical and laboratory manifestations. ACO was observed more frequently in those patients with comorbidities and an encephalitis presentation.

Hemicrania continua: Case series presenting in an orofacial pain clinic.

Science.gov (United States)

Hryvenko, Iryna; Cervantes-Chavarría, Andrés R; Law, Alan S; Nixdorf, Donald R

2018-01-01

Aim of investigation Hemicrania continua (HC) is an uncommon primary headache and little is known of the characteristics of such patients managed in an orofacial pain setting. This study provides clinical features of HC, its association with other disorders, and treatment outcomes of patients managed in the TMD and Orofacial Pain Clinic at the University of Minnesota. Methods A retrospective review of patient records was undertaken. Inclusion criteria were a diagnosis of HC and confirmation at follow-up. Results Six of the 1617 new patients seen between 2015 and 2017 met the selection criteria. Four patients presented with "facial pain", one with "toothache" and one with "jaw pain". All were female with mean age 55 ± 10.5 years (range = 41-69). Headache characteristics included unilateral (R:L = 1:1) pain of moderate intensity with severe exacerbations in the distribution of V 1 (1/6), V 1  + V 2 (3/6) and V 1  + V 2  + V 3 (2/6). Lacrimation and photophobia were the most common associated symptoms. Patient presentations were complicated by multiple medical and comorbid diagnoses. All were diagnosed with temporomandibular disorder (TMD). Indomethacin alone was sufficient for adequate headache control in 2/6 patients with several add-on medications providing sustained pain relief. Conclusions Comorbid pain conditions can be expected in patients with HC presenting to orofacial pain clinics. Symptom presentation varies, and multimodal treatment approach is necessary for success.

Ophthalmologic Findings in Patients with Neuro-metabolic Disorders.

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Jafari, Narjes; Golnik, Karl; Shahriari, Mansoor; Karimzadeh, Parvaneh; Jabbehdari, Sayena

2018-01-01

We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination. Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.

Metabolic factor: A new clinical tool in obesity diagnosis and weight ...

African Journals Online (AJOL)

Obtaining resting metabolic rates (RMR) via indirect calorimetry is a critical component of weight management that is used to calculate a new concept, metabolic factor. This calculation allows for the standardized expression of RMR to make it possible to compare metabolism between people and over time. This study found ...

Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

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Nurgul Ceran

Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

Radioisotope techniques in the study of protein metabolism

International Nuclear Information System (INIS)

1965-01-01

The International Atomic Energy Agency (IAEA) held a panel meeting on June 1-5, 1964. The purpose of the panel was to discuss the present status of radioactive tracer techniques for the study of protein metabolism and to suggest ways of extending an co-ordinating the Agency's research programme in this field. The meeting was attended by 13 invited experts from ten different countries, and three representatives of the World Health Organization (WHO). Sessions of the panel were devoted to methods of preparation of labelled proteins and protein-like substances, to techniques of measurement of gastro-intestinal protein absorption and loss and to the clinical applications of these techniques. At each session, working papers were presented by various participants and then discussed in detail. This report gives the full texts of the working papers together with extensive summaries of the discussions and provides a detailed picture of the present situation and likely future developments in this field of work. It is hoped that its publication will be of interest to all concerned with problems of protein metabolism, whether in clinical medicine or the basic medical sciences. 349 refs, figs and tabs

The clinical presentation and diagnosis of epileptic autonomic auras

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Marina Revditovna Kremenchugskaya

2012-01-01

Full Text Available Objective: to refine the pattern of clinical manifestations of epileptic autonomic auras (EAA and to reveal clinical, electroencephalographic, and neuroimaging ratios. Patients and methods. Eighteen patients (8, 41% men and 10, 59% women aged 9 to 27years (mean 18±5years were examined. The examination encompassed analysis of history data, clinical and neurological studies, long-term video-assisted electroencephalographic monitoring, and magnetic resonance imaging (MRI of the brain. Results. In most patients (n = 12, 67%, the symptoms of EAA corresponded to the criteria for abdominal one. In the other patients, the clinical manifestations resembled autonomic paroxysms as attacks of panic. Interictal pathological changes on an electroencephalogram (EEG were present in the frontal, temporal, and frontotemporal regions in 4 (22%, 6 (33%, and 7 (39% patients, respectively, as well as in both the left and right hemispheres without significant differences. Pathological EEG changes were not found in one case. MRI detected that 13 (72% patients had structural changes that were potentially eliptogenic. Conclusion. The clinical symptoms of EAA give information on the site of a primary pathological focus. It is necessary to differentiate EAA from non-epileptic paroxysmal states. The autonomic phenomena of epileptic genesis help study the functional organizations of the autonomic nervous system.

Metabolic syndrome and cardiovascular risk

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Abdullah M Alshehri

2010-01-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Metabolic syndrome and cardiovascular risk

Directory of Open Access Journals (Sweden)

Abdullah M Alshehri

2010-11-01

Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

International Nuclear Information System (INIS)

Matushita Junior, Joao Paulo K.; Tiel, Chan; Py, Marco; Batista, Raquel Ribeiro; Gasparetto, Emerson L.

2010-01-01

Septo-optic dysplasia (SOD) is a heterogeneous developmental malformation characterized by optic nerve hypoplasia associated with dysgenesis of the septum pellucidum and other cerebral malformations. The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures. In 2000, Miller et al. first named the association of SOD and cortical dysplasia as SOD-plus. In this report, all the cases had severe clinical impairment, presenting global developmental delay and spastic motor deficits. Subsequent reports of SOD-plus also stressed the psychomotor development delay, spastic motor deficits and seizures seen in these patients, emphasizing the severity of the brain involvement. Recently, Kwak et al. reported a case of SOD-plus presenting with cortical dysplasia involving the insular cortex bilaterally. However, differently from all the previous reports, the patient had no signs or symptoms of cortical dysfunction, except for one episode of seizure. We report an additional case of SOD-plus, which presented extensive cortical malformation, with no signs or symptoms of cortical dysfunction. We suggest that similar to the classical form of SOD, the clinical presentation in patients with SOD-plus can also range from mild to extremely severe. (author)

Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

Energy Technology Data Exchange (ETDEWEB)

Matushita Junior, Joao Paulo K. [Instituto de Pos-Graduacao Medica Carlos Chagas (IPGMCC), Rio de Janeiro, RJ (Brazil); Tiel, Chan; Py, Marco [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Inst. de Neurologia Deolindo Couto; Batista, Raquel Ribeiro [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Hospital Universitario Clementino Fraga Filho; Gasparetto, Emerson L., E-mail: egasparetto@gmail.co [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Dept. de Radiologia

2010-04-15

Septo-optic dysplasia (SOD) is a heterogeneous developmental malformation characterized by optic nerve hypoplasia associated with dysgenesis of the septum pellucidum and other cerebral malformations. The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures. In 2000, Miller et al. first named the association of SOD and cortical dysplasia as SOD-plus. In this report, all the cases had severe clinical impairment, presenting global developmental delay and spastic motor deficits. Subsequent reports of SOD-plus also stressed the psychomotor development delay, spastic motor deficits and seizures seen in these patients, emphasizing the severity of the brain involvement. Recently, Kwak et al. reported a case of SOD-plus presenting with cortical dysplasia involving the insular cortex bilaterally. However, differently from all the previous reports, the patient had no signs or symptoms of cortical dysfunction, except for one episode of seizure. We report an additional case of SOD-plus, which presented extensive cortical malformation, with no signs or symptoms of cortical dysfunction. We suggest that similar to the classical form of SOD, the clinical presentation in patients with SOD-plus can also range from mild to extremely severe. (author)

Metabolic syndrome and menopause

OpenAIRE

Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

2013-01-01

Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

Screening for Inborn Errors of Metabolism

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F.A. Elshaari

2013-09-01

Full Text Available Inborn errors of metabolism (IEM are a heterogeneous group of monogenic diseases that affect the metabolic pathways. The detection of IEM relies on a high index of clinical suspicion and co-ordinated access to specialized laboratory services. Biochemical analysis forms the basis of the final confirmed diagnosis in several of these disorders. The investigations fall into four main categories1.General metabolic screening tests2.Specific metabolite assays3.Enzyme studies4.DNA analysis The first approach to the diagnosis is by a multi-component analysis of body fluids in clinically selected patients, referred to as metabolic screening tests. These include simple chemical tests in the urine, blood glucose, acid-base profile, lactate, ammonia and liver function tests. The results of these tests can help to suggest known groups of metabolic disorders so that specific metabolites such as amino acids, organic acids, etc. can be estimated. However, not all IEM needs the approach of general screening. Lysosomal, peroxisomal, thyroid and adrenal disorders are suspected mainly on clinical grounds and pertinent diagnostic tests can be performed. The final diagnosis relies on the demonstration of the specific enzyme defect, which can be further confirmed by DNA studies.

The effects of phytosterols present in natural food matrices on cholesterol metabolism and LDL-cholesterol: a controlled feeding trial.

Science.gov (United States)

Lin, X; Racette, S B; Lefevre, M; Spearie, C A; Most, M; Ma, L; Ostlund, R E

2010-12-01

Extrinsic phytosterols supplemented to the diet reduce intestinal cholesterol absorption and plasma low-density lipoprotein (LDL)-cholesterol. However, little is known about their effects on cholesterol metabolism when given in native, unpurified form and in amounts achievable in the diet. The objective of this investigation was to test the hypothesis that intrinsic phytosterols present in unmodified foods alter whole-body cholesterol metabolism. In all, 20 out of 24 subjects completed a randomized, crossover feeding trial wherein all meals were provided by a metabolic kitchen. Each subject consumed two diets for 4 weeks each. The diets differed in phytosterol content (phytosterol-poor diet, 126 mg phytosterols/2000 kcal; phytosterol-abundant diet, 449 mg phytosterols/2000 kcal), but were otherwise matched for nutrient content. Cholesterol absorption and excretion were determined by gas chromatography/mass spectrometry after oral administration of stable isotopic tracers. The phytosterol-abundant diet resulted in lower cholesterol absorption (54.2±2.2% (95% confidence interval 50.5%, 57.9%) vs 73.2±1.3% (69.5%, 76.9%), Pphytosterol-poor diet. Plasma lathosterol/cholesterol ratio rose by 82% (from 0.71±0.11 (0.41, 0.96) to 1.29±0.14 μg/mg (0.98, 1.53), Pphytosterols at levels present in a healthy diet are biologically active and have large effects on whole-body cholesterol metabolism not reflected in circulating LDL. More work is needed to assess the effects of phytosterol-mediated fecal cholesterol excretion on coronary heart disease risk in humans.

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

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J. Pérez-López

2017-03-01

Full Text Available Patients with inborn errors of metabolism (IEMs have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6% patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4% and 25 (5% patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.

Effects of hypo- und hyperthyroidism on skeletal muscle metabolism

International Nuclear Information System (INIS)

Moka, D.; Theissen, P.; Linden, A.; Waters, W.; Schicha, H.

1991-01-01

31 P magnetic resonance spectroscopy allows non-invasive evaluation of phosphorus metabolism in man. The purpose of the present study was to assess the influence of hyper- and hypothyroidism on the metabolism of resting human skeletal muscle. The present data show that quantitative measurement of phosphate metabolism by NMR is possible as also demonstrated by other studies. Using a quantitative evaluation method with an external standard, significant differences in the levels of phosphocreatine, adenosintriphosphate, and phosphodiesters were found. In hypothyroid patients a TSH-dependent increase in phosphodiesters and a decrease in adenosintriphosphate and phosphocreatine was observed. In hyperthyroidism a similar decrease in adenosintriphosphate but a considerably higher decrease in phosphocreatine occurred. In the light of the results of other studies of muscle matabolism, these changes appear to be non-specific so that further studies are required to assess the clinical value of such measurements. (orig.) [de

Content Validation of Athletic Therapy Clinical Presentations in Canada

Science.gov (United States)

Lafave, Mark R.; Yeo, Michelle; Westbrook, Khatija; Valdez, Dennis; Eubank, Breda; McAllister, Jenelle

2016-01-01

Context: Competency-based education requires strong planning and a vehicle to deliver and track students' progress across their undergraduate programs. Clinical presentations (CPs) are proposed as 1 method to deliver a competency-based curriculum in a Canadian undergraduate athletic therapy program. Objective: Validation of 253 CPs. Setting:…

Typical and atypical clinical presentation of uterine myomas

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Wen-Hsiang Su

2012-10-01

Full Text Available Myoma is the most common benign neoplasm that can occur in the female reproductive system, most frequently seen in women in their 50s. Although the majority of myomas are asymptomatic, some patients have symptoms and/or signs of varying degrees. Typical myoma-related symptoms or signs include: (1 menstrual disturbances like menorrhagia, dysmenorrhea and intermenstrual bleeding, (2 pelvic pain unrelated to menstruation, (3 compression symptoms, similar to a sensation of bloatedness, urinary frequency and constipation, (4 subfertility status such as recurrent abortion, preterm labor, dystocia with an increased incidence of Cesarean section, and postpartum hemorrhage, and (5 cosmetic problems due to increased abdominal girth However, there are undoubtedly some clinical presentations secondary to uterine myomas are not so specific, such as: (1 uncommon compression-related symptoms, (2 cardiac symptom and atypical symptoms secondary to vascular involvement or dissemination, (3 abdominal symptoms mimicking pelvic carcinomatosis, (4 dyspnea, (5 pruritus, (6 hiccup or internal bleeding, and (7 vaginal protruding mass or uterine inversion. Familiarization with these symptoms and awareness of other unusual or atypical presentations of uterine myomas will remind clinical practitioners of their significance, and of the necessity of follow-up examinations and individualized management to fit the needs and childbirth desires of the patients.

Effects of vasoactive and metabolic active substances (measurement of RCBF)

Energy Technology Data Exchange (ETDEWEB)

Herrschaft, H.

1986-09-29

Methods, principles, normal values, reproducibility and clinical indications of rCBF-measurements, using the intraartrial 133-Xenon-clearance-technique, are presented. The effect of vaso- and metabolically active drugs on cerebral blood flow was examined in 215 patients, suffering from cerebral ischemia. Significant increase of rCBF was ascertained after intravenous injection of centrophenoxine, pyrithioxine, extractum sanguis deproteinatus, piracetam and solutions of low molecular dextran. All the other drugs tested proved to be either without any effect or caused decrease of rCBF. In 130 patients with obstructive disease of internal carotid artery after surgery at an interval of 6 - 8 weeks and 1 year a significant increase of CBF could be stated. The rank of psychological tests and quantitative EEF-investigations relating to evidence of efficacy of metabolically active drugs is discussed critically. Therapeutic efficacy and clinical relevance of vaso- and metabolically active drugs in cerebral ischemia of man are to be substantiated only by double-blind controlled studies.

Effects of vasoactive and metabolic active substances (measurement of RCBF)

International Nuclear Information System (INIS)

Herrschaft, H.

1986-01-01

Methods, principles, normal values, reproducibility and clinical indications of rCBF-measurements, using the intraartrial 133-Xenon-clearance-technique, are presented. The effect of vaso- and metabolically active drugs on cerebral blood flow was examined in 215 patients, suffering from cerebral ischemia. Significant increase of rCBF was ascertained after intravenous injection of centrophenoxine, pyrithioxine, extractum sanguis deproteinatus, piracetam and solutions of low molecular dextran. All the other drugs tested proved to be either without any effect or caused decrease of rCBF. In 130 patients with obstructive disease of internal carotid artery after surgery at an interval of 6 - 8 weeks and 1 year a significant increase of CBF could be stated. The rank of psychological tests and quantitative EEF-investigations relating to evidence of efficacy of metabolically active drugs is discussed critically. Therapeutic efficacy and clinical relevance of vaso- and metabolically active drugs in cerebral ischemia of man are to be substantiated only by double-blind controlled studies. (orig.) [de

Identified metabolic signature for assessing red blood cell unit quality is associated with endothelial damage markers and clinical outcomes

DEFF Research Database (Denmark)

Bordbar, Aarash; Johansson, Pär I.; Paglia, Giuseppe

2016-01-01

shown no difference of clinical outcome for patients receiving old or fresh RBCs. An overlooked but essential issue in assessing RBC unit quality and ultimately designing the necessary clinical trials is a metric for what constitutes an old or fresh RBC unit. STUDY DESIGN AND METHODS: Twenty RBC units...... years and endothelial damage markers in healthy volunteers undergoing autologous transfusions. CONCLUSION: The state of RBC metabolism may be a better indicator of cellular quality than traditional hematologic variables....

Potential use of metabolic breath tests to assess liver disease and prognosis: has the time arrived for routine use in the clinic?

Science.gov (United States)

Stravitz, R Todd; Ilan, Yaron

2017-03-01

The progression of liver disease may be unique among organ system diseases in that progressive fibrosis compromises not only the sufficiency of hepatocyte mass but also impairs blood flow to the liver, resulting in porto-systemic shunting. Although liver biopsy as an assessment of fibrosis has become the key biomarker of and target for new therapies, it is invasive and subject to sampling error, and cannot quantify metabolic function or porto-systemic shunting. Measurement of the hepatic venous pressure gradient accommodates some of the deficiencies of biopsy but requires expertise not widely available and misses minor changes in hepatocellular mass and thereby information about metabolic function. Thus, an unmet need in clinical hepatology remains unfulfilled: a noninvasive biomarker which quantitates both the hepatocellular insufficiency and porto-systemic shunting inherent in progressive hepatic fibrosis. Ideally, such a biomarker should correlate with clinical endpoints including liver-related survival and cirrhotic complications, be performed at the point-of-care, and be affordable and easy to use. This review, an expert opinion, summarizes background and recent data suggesting that metabolic breath tests may now meet these requirements and have a valid place in clinical hepatology to supplant the time-honoured assessment of hepatic fibrosis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Metabolic syndrome and menopause

Directory of Open Access Journals (Sweden)

Jouyandeh Zahra

2013-01-01

Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

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G. Scaturro

2013-04-01

Full Text Available Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children’s healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn’s place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.

A specific metabolic pattern related to the hallucinatory activity in schizophrenia

International Nuclear Information System (INIS)

Huret, J.D.; Martinot, J.L.; Lesur, A.; Mazoyer, B.; Pappata, S.; Syrota, A.; Baron, J.C.; Lemperiere, T.

1988-01-01

A clinical and PEI study using 18 F - fluorodesoxyglucose for measuring local cerebral glucose metabolism with the aim of showing a specific pattern related to the hallucinatory activity, is presented in schizophrenic patients all experiencing hallucinations or pseudo-halluccinations

Present state of nuclear cardiology

International Nuclear Information System (INIS)

Krause, T.; Moser, E.

1994-01-01

Unlike other techniques, nuclear cardiologic imaging enables evaluation of cardiac function employing radioactive tracers. This procedure can be used to assess myocardial blood flow, metabolism, viability, cardiac innervation and receptor status. Therefore, this noninvasive imaging modality can be regarded as supplementary to the screening methods in cardiology and also to angiography. General clinical use was not possible until the rapid development of nuclear medicine in the fifties began. With increasing wide-spread of positron emission tomography more detailed information on metabolic tissue characterization can be expected and will be of enormous relevance in clinical decision making and in selecting patients for interventions. (orig.) [de

The effect of exercise training on clinical outcomes in patients with the metabolic syndrome: a systematic review and meta-analysis.

Science.gov (United States)

Ostman, C; Smart, N A; Morcos, D; Duller, A; Ridley, W; Jewiss, D

2017-08-30

Purpose: to establish if exercise training improves clinical outcomes in people with metabolic syndrome (MetS). Registered with PROSPERO international prospective register of systematic reviews ( https://www.crd.york.ac.uk/PROSPERO/Identifier:CRD42017055491 ). studies were identified through a MEDLINE search strategy (1985 to Jan 12, 2017), Cochrane controlled trials registry, CINAHL and SPORTDiscus. prospective randomized or controlled trials of exercise training in humans with metabolic syndrome, lasting 12 weeks or more. We included 16 studies with 23 intervention groups; 77,000 patient-hours of exercise training. In analyses of aerobic exercise studies versus control: body mass index was significantly reduced, mean difference (MD) -0.29 (kg m -2 ) (95% CI -0.44, -0.15, p exercise versus control: waist circumference, MD -3.80 cm (95% CI -5.65, -1.95, p exercise interventions. Exercise training improves body composition, cardiovascular, and, metabolic outcomes in people with metabolic syndrome. For some outcome measures, isolated aerobic exercise appears optimal.

Clinical review

DEFF Research Database (Denmark)

Groth, Kristian; Skakkebæk, Anne; Høst, Christian

2013-01-01

Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.......Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries....

A Rare Clinical Presentation of Darier’s Disease

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Mybera Ferizi

2013-01-01

Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

Metabolic effects of dark chocolate consumption on energy, gut microbiota, and stress-related metabolism in free-living subjects.

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Martin, Francois-Pierre J; Rezzi, Serge; Peré-Trepat, Emma; Kamlage, Beate; Collino, Sebastiano; Leibold, Edgar; Kastler, Jürgen; Rein, Dietrich; Fay, Laurent B; Kochhar, Sunil

2009-12-01

Dietary preferences influence basal human metabolism and gut microbiome activity that in turn may have long-term health consequences. The present study reports the metabolic responses of free living subjects to a daily consumption of 40 g of dark chocolate for up to 14 days. A clinical trial was performed on a population of 30 human subjects, who were classified in low and high anxiety traits using validated psychological questionnaires. Biological fluids (urine and blood plasma) were collected during 3 test days at the beginning, midtime and at the end of a 2 week study. NMR and MS-based metabonomics were employed to study global changes in metabolism due to the chocolate consumption. Human subjects with higher anxiety trait showed a distinct metabolic profile indicative of a different energy homeostasis (lactate, citrate, succinate, trans-aconitate, urea, proline), hormonal metabolism (adrenaline, DOPA, 3-methoxy-tyrosine) and gut microbial activity (methylamines, p-cresol sulfate, hippurate). Dark chocolate reduced the urinary excretion of the stress hormone cortisol and catecholamines and partially normalized stress-related differences in energy metabolism (glycine, citrate, trans-aconitate, proline, beta-alanine) and gut microbial activities (hippurate and p-cresol sulfate). The study provides strong evidence that a daily consumption of 40 g of dark chocolate during a period of 2 weeks is sufficient to modify the metabolism of free living and healthy human subjects, as per variation of both host and gut microbial metabolism.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Science.gov (United States)

Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G; Ciara, Elżbieta; Wortmann, Saskia B

2017-11-01

Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (n = 4), moderate (n = 13) or severe (n = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirrored the course of disease with respect to survival (current median age 17.5 years in the mild group, median age of death 35 days in the severe group), severity and age of onset of all findings evaluated. CLPB deficiency should be considered in neonates with absence of voluntary movements, respiratory insufficiency and swallowing problems, especially if associated with 3-methylglutaconic aciduria, neutropenia and cataracts. Being an important differential diagnosis of hyperekplexia (exaggerated startle responses), we advise performing urinary organic acid analysis, blood cell counts and ophthalmological examination in these patients. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling.

Clinical significance of biochemical markers of bone metabolism in patients with type 2 diabetes mellitus

International Nuclear Information System (INIS)

Zhang Bashan; Zeng Longhong; Lai Fudi

2004-01-01

Objective: To investigate the clinical significance of changes of levels of biochemical markers of bone metabolism in patients with type 2 diabetes mellitus. Methods: Serum osteocalcin (BGP, with RIA), Ca alkaline phosphatase (ALP) and random specimen urinary deoxypyridinoline (DPD, with chemiluminescence assay), Ca, creatinine levels were measured in 40 patients with type 2 diabetes mellitus and 31 controls. Results: Serum BGP levels in diabetic patients were much lower than those in the controls (P<0.05); while urinary DPD/Cr ratio and Ca/Cr ratio were significantly higher in the patients than those in the controls (P<0.05, P<0.05). Serum Ca and ALP levels were about the same in the two groups. Conclusion: Loss of bone mass in diabetic patients are due to both decreased bone formation and increased bone resorption. Determination of the levels of the biochemical markers of bone metabolism (BGP, DPD......) could be applied for early detection of osteoporosis. (authors)

Recognition and Clinical Presentation of Invasive Fungal Disease in Neonates and Children.

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King, Jill; Pana, Zoi-Dorothea; Lehrnbecher, Thomas; Steinbach, William J; Warris, Adilia

2017-09-01

Invasive fungal diseases (IFDs) are devastating opportunistic infections that result in significant morbidity and death in a broad range of pediatric patients, particularly those with a compromised immune system. Recognizing them can be difficult, because nonspecific clinical signs and symptoms or isolated fever are frequently the only presenting features. Therefore, a high index of clinical suspicion is necessary in patients at increased risk of IFD, which requires knowledge of the pediatric patient population at risk, additional predisposing factors within this population, and the clinical signs and symptoms of IFD. With this review, we aim to summarize current knowledge regarding the recognition and clinical presentation of IFD in neonates and children. © The Author 2017. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society.

Clinical utility of standard base excess in the diagnosis and interpretation of metabolic acidosis in critically ill patients

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M Park

2008-03-01

Full Text Available The aims of this study were to determine whether standard base excess (SBE is a useful diagnostic tool for metabolic acidosis, whether metabolic acidosis is clinically relevant in daily evaluation of critically ill patients, and to identify the most robust acid-base determinants of SBE. Thirty-one critically ill patients were enrolled. Arterial blood samples were drawn at admission and 24 h later. SBE, as calculated by Van Slyke's (SBE VS or Wooten's (SBE W equations, accurately diagnosed metabolic acidosis (AUC = 0.867, 95%CI = 0.690-1.043 and AUC = 0.817, 95%CI = 0.634-0.999, respectively. SBE VS was weakly correlated with total SOFA (r = -0.454, P < 0.001 and was similar to SBE W (r = -0.482, P < 0.001. All acid-base variables were categorized as SBE VS <-2 mEq/L or SBE VS <-5 mEq/L. SBE VS <-2 mEq/L was better able to identify strong ion gap acidosis than SBE VS <-5 mEq/L; there were no significant differences regarding other variables. To demonstrate unmeasured anions, anion gap (AG corrected for albumin (AG A was superior to AG corrected for albumin and phosphate (AG A+P when strong ion gap was used as the standard method. Mathematical modeling showed that albumin level, apparent strong ion difference, AG A, and lactate concentration explained SBE VS variations with an R² = 0.954. SBE VS with a cut-off value of <-2 mEq/L was the best tool to diagnose clinically relevant metabolic acidosis. To analyze the components of SBE VS shifts at the bedside, AG A, apparent strong ion difference, albumin level, and lactate concentration are easily measurable variables that best represent the partitioning of acid-base derangements.

Melatonin, mitochondria, and the metabolic syndrome.

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Cardinali, Daniel P; Vigo, Daniel E

2017-11-01

A number of risk factors for cardiovascular disease including hyperinsulinemia, glucose intolerance, dyslipidemia, obesity, and elevated blood pressure are collectively known as metabolic syndrome (MS). Since mitochondrial activity is modulated by the availability of energy in cells, the disruption of key regulators of metabolism in MS not only affects the activity of mitochondria but also their dynamics and turnover. Therefore, a link of MS with mitochondrial dysfunction has been suspected since long. As a chronobiotic/cytoprotective agent, melatonin has a special place in prevention and treatment of MS. Melatonin levels are reduced in diseases associated with insulin resistance like MS. Melatonin improves sleep efficiency and has antioxidant and anti-inflammatory properties, partly for its role as a metabolic regulator and mitochondrial protector. We discuss in the present review the several cytoprotective melatonin actions that attenuate inflammatory responses in MS. The clinical data that support the potential therapeutical value of melatonin in human MS are reviewed.

Subcellular metabolic contrast in living tissue using dynamic full field OCT (D-FFOCT) (Conference Presentation)

Science.gov (United States)

Apelian, Clement; Harms, Fabrice; Thouvenin, Olivier; Boccara, Claude A.

2016-03-01

Cells shape or density is an important marker of tissues pathology. However, individual cells are difficult to observe in thick tissues frequently presenting highly scattering structures such as collagen fibers. Endogenous techniques struggle to image cells in these conditions. Moreover, exogenous contrast agents like dyes, fluorophores or nanoparticles cannot always be used, especially if non-invasive imaging is required. Scatterers motion happening down to the millisecond scale, much faster than the fix and highly scattering structures (global motion of the tissue), allowed us to develop a new approach based on the time dependence of the FF-OCT signals. This method reveals hidden cells after a spatiotemporal analysis based on singular value decomposition and wavelet analysis concepts. It does also give us access to local dynamics of imaged scatterers. This dynamic information is linked with the local metabolic activity that drives these scatterers. Our technique can explore subcellular scales with micrometric resolution and dynamics ranging from the millisecond to seconds. By this mean we studied a wide range of tissues, animal and human in both normal and pathological conditions (cancer, ischemia, osmotic shock…) in different organs such as liver, kidney, and brain among others. Different cells, undetectable with FF-OCT, were identified (erythrocytes, hepatocytes…). Different scatterer clusters express different characteristic times and thus can be related to different mechanisms that we identify with metabolic functions. We are confident that the D-FFOCT, by accessing to a new spatiotemporal metabolic contrast, will be a leading technique on tissue imaging and could lead to better medical diagnosis.

Severe non-anion gap metabolic acidosis induced by topiramate: a case report.

Science.gov (United States)

Shiber, Joseph R

2010-05-01

A non-anion gap acidosis can be induced by topiramate, causing symptomatic dyspnea and confusion. Discuss the pathophysiology of the hyperchloremic metabolic acidosis caused by topiramate, the typical clinical presentation, and the recommended treatment. This case presents a young woman with a clinically significant non-anion gap metabolic acidosis believed to be caused by topiramate. She had been taking the medication for several months without prior adverse effects. Once she began having dyspnea as a respiratory response to the renal tubule acidosis, she had decreased oral intake of food and fluids, which induced a pre-renal acute renal failure that worsened her acidemia. In the Emergency Department, she received intravenous fluids and sodium bicarbonate, and later was intubated for mechanical ventilation due to respiratory fatigue. With the topiramate withdrawn, the patient had a full recovery of her renal function and metabolic acid-base status over the next 72 h. This case serves to increase awareness of this possible adverse effect and the recommended treatment as topiramate becomes more widely used. Topiramate can induce a renal tubule acidosis resulting in a hyperchloremic metabolic acidosis. Recognition of the underlying cause is crucial so that the drug can be withdrawn while supportive care is provided. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Disorders of carbohydrate metabolism in clinical practice

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V.I. Pankiv

2017-02-01

Full Text Available Considering the prevalence of diabetes mellitus (DM, the possibility of early and rapid progress of complications, a large number of undiagnosed cases and disappointing forecasts of the World Health Organization on the prospects of DM spreading in the world, timely and accurate diagnosis of carbohydrate metabolism disorders is important. The criteria for the diagnosis of carbohydrate metabolism and DM are shown in the article. The article includes a new consensus on the staging of type 1 DM and a discussion of a proposed unifying diabetes classification scheme that focuses on β-cell dysfunction and disease stage as indicated by glucose status. Modern recommendations 2017 of the American Diabetes Association are shown in relation to the criteria of diagnostics of impaired fasting glucose, impaired glucose tolerance and diabetes mellitus. The value of insulin resistance and functional state of pancreatic β-cells is underlined in determination of type 2 DM duration. A plan of type 2 DM management is brought.

Unilateral Congenital Cataract: Clinical Profile and Presentation.

Science.gov (United States)

Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

2018-03-01

To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

Etiology, clinical spectrum and outcome of metabolic liver diseases in children

International Nuclear Information System (INIS)

Roy, A.; Samanta, T.; Purkait, R.; Mukherji, A.

2013-01-01

Objective: To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India. Study Design: An observational study. Place and Duration of Study: Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011. Methodology: All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months. Results: Fifty one children with mean age 4.34 +- 3.78 years (range 2 days +- 12 years), male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease (33.33%, n = 17); glycogen storage disorder (23.53%, n = 12); galactosemia (19.61%, n = 10); non-alcoholic fatty liver disease (11.76%, n = 6); Gaucher disease (5.88%, n = 3); mucopolysaccharidoses (3.92%, n = 2) and familial hyperlipoproteinemia type-I (1.96%, n = 1). Jaundice (n = 24) and hepatomegaly (n = 47), was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease (n = 7) cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis (p = 0.026). Conclusion: High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs. (author)

Standardized 15N tracer method for the determination of parameters of the whole-body protein metabolism in clinical practice

International Nuclear Information System (INIS)

Junghans, P.; Jung, K.; Matkowitz, R.

1984-01-01

A standardized 15 N tracer method is described for the assessment of nitrogen and protein metabolism in healthy and pathological changed organisms. The method represents an isotope technical procedure for the application in clinical research and practice. The clinical preparation of the patient/proband by means of a standardized nutritional regime, the tracer administration (single dose) and the sampling (urine, blood), the 15 N tracer technique (sample chemistry, emissionsspectrometric isotope analysis) and the mathematical evaluation of 15 N tracer data are described. (author)

Elderly women with metabolic syndrome present higher cardiovascular risk and lower relative muscle strength

Energy Technology Data Exchange (ETDEWEB)

Farias, Darlan Lopes; Tibana, Ramires Alsamir; Teixeira, Tatiane Gomes; Vieira, Denis César Leite; Tarja, Vitor; Nascimento, Dahan da Cunha; Silva, Alessandro de Oliveira [Universidade Católica de Brasília, Brasília, DF (Brazil); Funghetto, Silvana Schwerz [Universidade de Brasília, Brasília, DF (Brazil); Coura, Maritza Alves de Sousa; Valduga, Renato [Universidade Católica de Brasília, Brasília, DF (Brazil); Karnikowski, Margô Gomes de Oliveira [Universidade de Brasília, Brasília, DF (Brazil); Prestes, Jonato [Universidade Católica de Brasília, Brasília, DF (Brazil)

2013-07-01

To compare the metabolic, anthropometric, arterial blood pressure, and muscle strength parameters of elderly women with and without metabolic syndrome. A case-control study with 27 (67.3±4.8 years of age, 31.0±5.0kg/m{sup 2}) elderly women with metabolic syndrome and 33 (68.8±5.6 years of age, 27.2±5.3kg/m{sup 2}) sedentary control elderly women. They were submitted to an evaluation of body composition by means of dual-energy X-ray absorptiometry and muscle strength testing with 10 maximal repetitions of knee extension. When compared to the elderly women without metabolic syndrome, those with the metabolic syndrome had higher levels for body mass (72.2±13.5 versus 63.4±14.6kg, p=0.03), body mass index (31.0±5.0 versus 27.2±5.3kg/m{sup 2,} p=0.007), fat mass (30.9±9.9 versus 24.4±8.5kg, p=0.01), systolic arterial pressure (125.1±8.2 versus 119.3±8.7mmHg, p=0.01), diastolic arterial pressure (75.5±6.9 versus 71.4±6.7mmHg, p=0.03), mean arterial pressure (92.5±6.2 versus 87.1±6.7mmHg, p=0.004), blood glucose (103.8±19.1 versus 91.1±5.9mg/dL, p=0.001), triglycerides (187.1±70.2 versus 116.3±36.7mg/dL, p=0.001), and creatine kinase (122.6±58.6 versus 89.8±32.5U/L, p=0.01); lower levels were found for fat-free mass (55.9±5.8 versus 59.3±6.7%; p=0.05), HDL-C (40.7±5.0 versus 50.5±10.1mg/dL, p=0.001), and relative muscle strength (0.53±0.14 versus 0.62±0.12, p=0.01). Elderly women with metabolic syndrome have a higher cardiovascular risk and less relative muscle strength when compared to those without metabolic syndrome. Relative muscle strength may be related to the cardiovascularr risk factors of the metabolic syndrome.

Elderly women with metabolic syndrome present higher cardiovascular risk and lower relative muscle strength

International Nuclear Information System (INIS)

Farias, Darlan Lopes; Tibana, Ramires Alsamir; Teixeira, Tatiane Gomes; Vieira, Denis César Leite; Tarja, Vitor; Nascimento, Dahan da Cunha; Silva, Alessandro de Oliveira; Funghetto, Silvana Schwerz; Coura, Maritza Alves de Sousa; Valduga, Renato; Karnikowski, Margô Gomes de Oliveira; Prestes, Jonato

2013-01-01

To compare the metabolic, anthropometric, arterial blood pressure, and muscle strength parameters of elderly women with and without metabolic syndrome. A case-control study with 27 (67.3±4.8 years of age, 31.0±5.0kg/m"2) elderly women with metabolic syndrome and 33 (68.8±5.6 years of age, 27.2±5.3kg/m"2) sedentary control elderly women. They were submitted to an evaluation of body composition by means of dual-energy X-ray absorptiometry and muscle strength testing with 10 maximal repetitions of knee extension. When compared to the elderly women without metabolic syndrome, those with the metabolic syndrome had higher levels for body mass (72.2±13.5 versus 63.4±14.6kg, p=0.03), body mass index (31.0±5.0 versus 27.2±5.3kg/m"2", p=0.007), fat mass (30.9±9.9 versus 24.4±8.5kg, p=0.01), systolic arterial pressure (125.1±8.2 versus 119.3±8.7mmHg, p=0.01), diastolic arterial pressure (75.5±6.9 versus 71.4±6.7mmHg, p=0.03), mean arterial pressure (92.5±6.2 versus 87.1±6.7mmHg, p=0.004), blood glucose (103.8±19.1 versus 91.1±5.9mg/dL, p=0.001), triglycerides (187.1±70.2 versus 116.3±36.7mg/dL, p=0.001), and creatine kinase (122.6±58.6 versus 89.8±32.5U/L, p=0.01); lower levels were found for fat-free mass (55.9±5.8 versus 59.3±6.7%; p=0.05), HDL-C (40.7±5.0 versus 50.5±10.1mg/dL, p=0.001), and relative muscle strength (0.53±0.14 versus 0.62±0.12, p=0.01). Elderly women with metabolic syndrome have a higher cardiovascular risk and less relative muscle strength when compared to those without metabolic syndrome. Relative muscle strength may be related to the cardiovascularr risk factors of the metabolic syndrome

FDG PET in non-pharmacological therapy in Alzheimer's disease; cerebral metabolic increase correlates with clinical improvement after cognitive therapy

International Nuclear Information System (INIS)

Na, Hae Ri; Kim, Yu Kyeong; Park, Seong Min; Lee, Seung Hyun; Park, Eun Kyung; Lee, Jung Seok; Kim, Sang Yun; Kim, Sang Eun

2007-01-01

In management of AD, pharmacological treatment alone using acetylcholinesterase inhibitor (AChEI) is general consensus, and provides beneficial effect to prolong their progression. Combined non-pharmacological therapy, especially cognitive therapy is recently having attention with expectation of improvement in cognitive ability. This study examined the effect of combined cognitive therapy in AD patients who were maintaining AChEI using FDG PET. Four patients (689 yrs) who diagnosed as probable Alzheimer's disease based on the NINCDS-ADRDA criteria participated in this study. 12-week cognitive therapy comprised seven fields to enhance orientation, memory, recall, visuo-motor organization, categorization and behavior modification/sequencing. They received 45-minute sessions twice per week with maintaining their previous medication. Clinical improvement was assessed by comprehensive neuropsychological tests. Two FDG PET studies were performed before cognitive therapy and in the middle of the therapy, and compared to evaluate the effect of cognitive therapy to cerebral metabolism. Two of 4 patients whose initial cognitive impairment was milder had clinical improvement after 12 weeks, the rest who were more severely impaired failed to have clinical improvement. Regional cerebral hypometabolism on initial PET was correlated with their functional status. Follow up PET of two responders demonstrated the increases in regional metabolism in the temporal and/or frontal cortex, which was associated their functional improvement. Cerebral metabolism in poor responders were minimally increased or no changed. This preliminary data suggests that cognitive therapy is potentially useful to stabilize or improve cognitive and functional performance in AD patients with relatively mild cognitive dysfunction. And FDG PET could demonstrate possible candidates for cognitive therapy and the effect of the therapy

Effects of Pioglitazone on Asymmetric Dimethylarginine and Components of the Metabolic Syndrome in Nondiabetic Patients (EPICAMP Study: A Double-Blind, Randomized Clinical Trial

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Pedram Shokouh

2013-01-01

Full Text Available The present trial aimed to investigate the effects of pioglitazone on the serum level of asymmetric dimethylarginine (ADMA, a marker of endothelial function, and some indices of inflammation and glucose and lipid metabolism in nondiabetic metabolic syndrome patients. 104 eligible participants (57% female; age between 20 and 70 were enrolled in a double-blind placebo-controlled trial and were randomized to receive either pioglitazone (uptitrated to 30 mg/day or matching placebo for 24 weeks. Participants were clinically examined and a blood sample was obtained at baseline and at the end of the trial. Pioglitazone significantly improved C-reactive protein level irrespective of changes in insulin sensitivity. Compared with the placebo group, alanine and aspartate transaminases were decreased and high-density lipoprotein cholesterol was increased after treatment with pioglitazone. A considerably greater weight gain was also recorded in the intervention group. We failed to observe any significant changes in serum ADMA in either group and between groups with and without adjustment for age, sex, and components of the metabolic syndrome. In a nutshell, pioglitazone seems to have positive effects on lipid profile, liver transaminases, and systemic inflammation. However, its previously demonstrated endothelial function-improving properties do not seem to be mediated by ADMA.

Nonsurgical periodontal therapy with/without diode laser modulates metabolic control of type 2 diabetics with periodontitis: a randomized clinical trial

NARCIS (Netherlands)

Koçak, E.; Sağlam, M.; Kayış, S.A.; Dündar, N.; Kebapçılar, L.; Loos, B.G.; Hakki, S.S.

2016-01-01

In order to evaluate whether nonsurgical periodontal treatment with/without diode laser (DL) decontamination improves clinical parameters, the levels of IL-1β, IL-6, IL-8, intercellular adhesion molecule (ICAM), and vascular cell adhesion molecule (VCAM) in gingival crevicular fluid and metabolic

Inherited metabolic disorders in Thailand.

Science.gov (United States)

Wasant, Pornswan; Svasti, Jisnuson; Srisomsap, Chantragan; Liammongkolkul, Somporn

2002-08-01

The study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well-equipped laboratory facilities and lack of governmental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhorn Research Institute) and abroad (Japan and the United States). Numerous inherited metabolic disorders were identified--carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxisomal, mucopolysaccharidoses etc. This report includes the establishment of genetic metabolic center in Thailand, research and pilot studies in newborn screening in Thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkorn Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj Hospitals). Inherited metabolic disorders reported are fructose-1,6-bisphosphatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, propionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).

Effect of Volume of Fluid Resuscitation on Metabolic Normalization in Children Presenting in Diabetic Ketoacidosis: A Randomized Controlled Trial.

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Bakes, Katherine; Haukoos, Jason S; Deakyne, Sara J; Hopkins, Emily; Easter, Josh; McFann, Kim; Brent, Alison; Rewers, Arleta

2016-04-01

The optimal rate of fluid administration in pediatric diabetic ketoacidosis (DKA) is unknown. Our aim was to determine whether the volume of fluid administration in children with DKA influences the rate of metabolic normalization. We performed a randomized controlled trial conducted in a tertiary pediatric emergency department from December 2007 until June 2010. The primary outcome was time to metabolic normalization; secondary outcomes were time to bicarbonate normalization, pH normalization, overall length of hospital treatment, and adverse outcomes. Children between 0 and 18 years of age were eligible if they had type 1 diabetes mellitus and DKA. Patients were randomized to receive intravenous (IV) fluid at low volume (10 mL/kg bolus + 1.25 × maintenance rate) or high volume (20 mL/kg bolus + 1.5 × maintenance rate) (n = 25 in each). After adjusting for initial differences in bicarbonate levels, time to metabolic normalization was significantly faster in the higher-volume infusion group compared to the low-volume infusion group (hazard ratio [HR] = 2.0; 95% confidence interval [CI] 1.0-3.9; p = 0.04). Higher-volume IV fluid infusion appeared to hasten, to a greater extent, normalization of pH (HR = 2.5; 95% CI 1.2-5.0; p = 0.01) than normalization of serum bicarbonate (HR = 1.2; 95% CI 0.6-2.3; p = 0.6). The length of hospital treatment HR (0.8; 95% CI 0.4-1.5; p = 0.5) and time to discharge HR (0.8; 95% CI 0.4-1.5; p = 0.5) did not differ between treatment groups. Higher-volume fluid infusion in the treatment of pediatric DKA patients significantly shortened metabolic normalization time, but did not change overall length of hospital treatment. ClinicalTrials.gov ID NCT01701557. Copyright © 2016 Elsevier Inc. All rights reserved.

Abdominal obesity and metabolic syndrome: exercise as medicine?

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Paley, Carole A; Johnson, Mark I

2018-01-01

Metabolic syndrome is defined as a cluster of at least three out of five clinical risk factors: abdominal (visceral) obesity, hypertension, elevated serum triglycerides, low serum high-density lipoprotein (HDL) and insulin resistance. It is estimated to affect over 20% of the global adult population. Abdominal (visceral) obesity is thought to be the predominant risk factor for metabolic syndrome and as predictions estimate that 50% of adults will be classified as obese by 2030 it is likely that metabolic syndrome will be a significant problem for health services and a drain on health economies.Evidence shows that regular and consistent exercise reduces abdominal obesity and results in favourable changes in body composition. It has therefore been suggested that exercise is a medicine in its own right and should be prescribed as such. This review provides a summary of the current evidence on the pathophysiology of dysfunctional adipose tissue (adiposopathy). It describes the relationship of adiposopathy to metabolic syndrome and how exercise may mediate these processes, and evaluates current evidence on the clinical efficacy of exercise in the management of abdominal obesity. The review also discusses the type and dose of exercise needed for optimal improvements in health status in relation to the available evidence and considers the difficulty in achieving adherence to exercise programmes. There is moderate evidence supporting the use of programmes of exercise to reverse metabolic syndrome although at present the optimal dose and type of exercise is unknown. The main challenge for health care professionals is how to motivate individuals to participate and adherence to programmes of exercise used prophylactically and as a treatment for metabolic syndrome.

Variability in Clinical Presentation of Neonatal Stroke: Report of Four Cases

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Joseph, Sonia; Angelis, Dimitrios; Bennett, Robert; Kola, Bhargavi; Hughes, Amanda

2017-01-01

Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.

Cranial dural arteriovenous shunts. Part 4. Clinical presentation of the shunts with leptomeningeal venous drainage.

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Baltsavias, Gerasimos; Spiessberger, Alex; Hothorn, Torsten; Valavanis, Anton

2015-04-01

Cranial dural arteriovenous fistulae have been classified into high- and low-risk lesions mainly based on the pattern of venous drainage. Those with leptomeningeal venous drainage carry a higher risk of an aggressive clinical presentation. Recently, it has been proposed that the clinical presentation should be considered as an additional independent factor determining the clinical course of these lesions. However, dural shunts with leptomeningeal venous drainage include a very wide spectrum of inhomogeneous lesions. In the current study, we correlated the clinical presentation of 107 consecutive patients harboring cranial dural arteriovenous shunts with leptomeningeal venous drainage, with their distinct anatomic and angiographic features categorized into eight groups based on the "DES" (Directness and Exclusivity of leptomeningeal venous drainage and features of venous Strain) concept. We found that among these groups, there are significant angioarchitectural differences, which are reflected by considerable differences in clinical presentation. Leptomeningeal venous drainage of dural sinus shunts that is neither direct nor exclusive and without venous strain manifested only benign symptoms (aggressive presentation 0%). On the other end of the spectrum, the bridging vein shunts with direct and exclusive leptomeningeal venous drainage and venous strain are expected to present aggressive symptoms almost always and most likely with bleeding (aggressive presentation 91.5%). Important aspects of the above correlations are discussed. Therefore, the consideration of leptomeningeal venous drainage alone, for prediction of the clinical presentation of these shunts appears insufficient. Angiographic analysis based on the above concept, offers the possibility to distinguish the higher- from the lower-risk types of leptomeningeal venous drainage. In this context, consideration of the clinical presentation as an additional independent factor for the prediction of their clinical

Aberrant lipogenesis is a metabolic marker for azole-resistant candida albicans (Conference Presentation)

Science.gov (United States)

Karanja, Caroline; Hong, Weili; Younis, Waleed; Cheng, Ji-Xin; Seleem, Mohamed

2017-02-01

Candida is the single most important cause of fungal bloodstream infections worldwide causing significant mortality as high as 50%. This high mortality rate is, in part, due to the inability to rapidly diagnose and simultaneously initiate an effective antifungal therapy early in the disease process. Current culture-based diagnostics are often slow, requiring several days to complete, and are only 50% sensitive in diagnosing candidemia (Candida bloodstream infection). For every 12 hours of delay in starting correct antifungal therapy, the risk of death for a given patient with candidemia increases by 200%. To address this unmet need, we explored the potential of employing stimulated Raman Scattering (SRS) imaging to diagnose candidemia and probe metabolic differences between resistant and susceptible strain at a single cell level. Metabolism is integral to pathogenicity; microorganism have very short life cycles, and therefore only a few hours are needed to observe a full metabolic cycle. SRS imaging at C-H vibration frequency at 2850 cm-1 revealed a substantial difference in lipogenesis between the susceptible and resistant C. albicans. Treating the C. albicans with fluconazole, an antimicrobial drug that targets ergosterol biosynthesis only affected the lipogenesis in the susceptible strain. Our results show that single-cell metabolic imaging under a SRS microscope can be used for diagnose candidemia and early detection of antimicrobial susceptibility.

[Distressful journey for the metabolic syndrome to its position in clinical practice].

Science.gov (United States)

Rybka, J

2010-07-01

MS is a major atherogenic syndrome in our population. The concept of MS has had a very positive effect on our knowledge of the most serious civilization diseases, the genotypic constellation of MS, although monogenic defects explain only a very small part of pathological defects. It is certain, however, that a crucial role played is by interactions between genetic factors and risk factors of external environment. Undoubtedly, insulin resistance, central obesity and impaired metabolism of adipose tissue play an important role in the pathogenesis of MS, and there are other pathogenetic theories. The author discusses briefly the history of MS and presents the best-known definitions starting with the 90s ofthe last century, ADA and EASD reservations towards MS, as well as the new harmonized definition from 2009. This modified definition ofMS has been adopted in practice in the Czech Republic due to the Czech Institute ofmetabolic syndrome. The author discusses in greater detail the WHO expert report from 2010, which indicates some limitations of diagnostic criteria for MS. Despite all the objections the expert report provides reasons to support the use of the term metabolic syndrome, and metabolic syndrome is considered to be a recognized concept that focuses attention on the importance of comprehensive, multifactorial health problems. Finally, the author mentions sub-problems related to MS, which will have to be resolved in collaboration with diabetologists.

Imaging metabolic heterogeneity in cancer.

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Sengupta, Debanti; Pratx, Guillem

2016-01-06

As our knowledge of cancer metabolism has increased, it has become apparent that cancer metabolic processes are extremely heterogeneous. The reasons behind this heterogeneity include genetic diversity, the existence of multiple and redundant metabolic pathways, altered microenvironmental conditions, and so on. As a result, methods in the clinic and beyond have been developed in order to image and study tumor metabolism in the in vivo and in vitro regimes. Both regimes provide unique advantages and challenges, and may be used to provide a picture of tumor metabolic heterogeneity that is spatially and temporally comprehensive. Taken together, these methods may hold the key to appropriate cancer diagnoses and treatments in the future.

Clinical utility of polymorphisms in one-carbon metabolism for breast cancer risk prediction

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Shaik Mohammad Naushad

2011-01-01

Full Text Available This study addresses the issues in translating the laboratory derived data obtained during discovery phase of research to a clinical setting using a breast cancer model. Laboratory-based risk assessment indi-cated that a family history of breast cancer, reduced folate carrier 1 (RFC1 G80A, thymidylate synthase (TYMS 5’-UTR 28bp tandem repeat, methylene tetrahydrofolate reductase (MTHFR C677T and catecholamine-O-methyl transferase (COMT genetic polymorphisms in one-carbon metabolic pathway increase the risk for breast cancer. Glutamate carboxypeptidase II (GCPII C1561T and cytosolic serine hydroxymethyl transferase (cSHMT C1420T polymorphisms were found to decrease breast cancer risk. In order to test the clinical validity of this information in the risk prediction of breast cancer, data was stratified based on number of protective alleles into four categories and in each category sensitivity and 1-specificity values were obtained based on the distribution of number of risk alleles in cases and controls. Receiver operating characteristic (ROC curves were plotted and the area under ROC curve (C was used as a measure of discriminatory ability between cases and controls. In subjects without any protective allele, aberrations in one-carbon metabolism showed perfect prediction (C=0.93 while the predictability was lost in subjects with one protective allele (C=0.60. However, predictability increased steadily with increasing number of protective alleles (C=0.63 for 2 protective alleles and C=0.71 for 3 protective alleles. The cut-off point for discrimination was >4 alleles in all predictable combinations. Models of this kind can serve as valuable tools in translational re-search, especially in identifying high-risk individuals and reducing the disease risk either by life style modification or by medical intervention.

Gonadal steroids and bone metabolism in men.

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Leder, Benjamin

2007-06-01

Over the past decade, our increasing awareness of the clinical importance of osteoporosis in men has stimulated intense interest in trying to better understand male skeletal physiology and pathophysiology. The present review focuses on a major focus of research in this area, namely the attempt to define the influence and therapeutic potential of gonadal steroids in male bone metabolism. Building on previous work defining the relative roles of androgens and estrogens in the developing male skeleton and in maintaining normal bone turnover, recent studies have begun to define these issues from epidemiologic, physiologic and therapeutic perspectives. With access to data from large prospectively defined populations of men, investigators are confirming and challenging existing hypotheses and forwarding new concepts. Clinical trials have expanded beyond standard androgen replacement studies to explore more complex hormonal interventions. Physiologic investigation has continued to probe the mechanisms underlying the differential and independent roles of androgens and estrogens in male bone metabolism. Recent work has added significantly to our understanding of the role of gonadal steroids in male skeletal physiology. Nonetheless, further research is necessary to build on these initial human studies and to capitalize on rapidly emerging advances in our understanding of the basic biology of bone metabolism.

Clinical presentation, imaging findings, and prognosis of spinal dural arteriovenous fistula.

Science.gov (United States)

Lee, Jookyung; Lim, Young-Min; Suh, Dae Chul; Rhim, Seung Chul; Kim, Sang Joon; Kim, Kwang-Kuk

2016-04-01

Spinal dural arteriovenous fistula (SDAVF) is a relatively common acquired vascular malformation of the spinal cord. Assessment of a SDAVF is often difficult because of non-specific findings on non-invasive imaging modalities. Diagnosis of a SDAVF is often delayed, and some patients receive unnecessary treatment and treatment delays, often resulting in a poor outcome. The aim of this study was to characterize the clinical presentation, typical imaging findings, and long-term outcome of SDAVF. Forty patients (13 women, 27 men; mean age 58.18 ± standard deviation 14.75 years) who were treated at our hospital from June 1992 to March 2014 were retrospectively reviewed. We investigated the baseline characteristics, clinical presentation, imaging findings, treatment modalities, and outcome of the patients. The most common clinical presentation was a sensory symptom (80%), followed by motor weakness (70%), and sphincter dysfunction (62.5%). Roughly one-third (32.5%) of patients had a stepwise progression of fluctuating weakness and sensory symptoms, but the most common presentation was chronic progressive myelopathic symptoms (47.5%). Thirty-four patients (85%) had T2 signal change on the spinal cord MRI, indicative of cord edema. Thirty-eight patients had typical perimedullary vessel flow voids on T2-weighted MRI. Twenty-eight patients were treated with endovascular embolization, five patients underwent surgery, and four patients underwent both. Clinical outcome was determined by severity of initial deficit (p=0.008), extent of cord edema (p=0.010), treatment failure (p=0.004), and a residual fistula (p=0.017). SDAVF causes a treatable myelopathy, so early diagnosis and intervention is essential. Copyright © 2015 Elsevier Ltd. All rights reserved.

Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

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Elsa Aburto-Mejía

2017-01-01

Full Text Available Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1 overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM plus Metabolic Syndrome (MetS before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p=0.026. A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p=0.001, with β=0.18 (p=0.03 for hypertension, β=-0.16 (p=0.05 for NL HDL-c, and β=0.15 (p=0.05 for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

Science.gov (United States)

Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo

2017-01-01

Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p = 0.001), with β = 0.18 (p = 0.03) for hypertension, β = −0.16 (p = 0.05) for NL HDL-c, and β = 0.15 (p = 0.05) for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability. PMID:28271069

Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease.

Science.gov (United States)

Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; López-Alarcón, Mardia; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo; Majluf-Cruz, Abraham; Isordia-Salas, Irma

2017-01-01

Background . Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim . To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods . We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results . We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels ( R 2 = 0.12; p = 0.001), with β = 0.18 ( p = 0.03) for hypertension, β = -0.16 ( p = 0.05) for NL HDL-c, and β = 0.15 ( p = 0.05) for NL triglycerides. Conclusion . Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

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Gianluca Vergine

2018-01-01

Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

Science.gov (United States)

Vergine, Gianluca; Fabbri, Elena; Pedini, Annalisa; Tedeschi, Silvana; Borsa, Niccolò

2018-01-01

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

Incidence and clinical presentation of groin injuries in sub-elite male soccer

DEFF Research Database (Denmark)

Hölmich, Per; Thorborg, Kristian; Dehlendorff, Christian

2014-01-01

BACKGROUND: Groin injuries cause major problems in the football codes, as they are prevalent and lead to prolonged symptoms and high recurrence. The aim of the present study was to describe the occurrence and clinical presentation of groin injuries in a large cohort of sub-elite soccer players.......0096). Having both adductor and abdominal pain also increased the injury time significantly when compared to injuries with no adductor and no abdominal pain (RIT=4.56, 95% CI 1.91 to 10.91, p=0.001). CONCLUSION: Adductor-related groin injury was the most common clinical presentation of groin injuries in male...... during a season. METHODS: Physiotherapists allocated to each of the participating 44 soccer clubs recorded baseline characteristics and groin injuries sustained by a cohort of 998 sub-elite male soccer players during a full 10-month season. All players with groin injuries were examined using the clinical...

Clinical and protein metabolic efficacy of glutamine granules-supplemented enteral nutrition in severely burned patients.

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Peng, Xi; Yan, Hong; You, Zhongyi; Wang, Pei; Wang, Shiliang

2005-05-01

As an abundant amino acid in the human body, glutamine has many important metabolic roles that may protect or promote tissue integrity and enhance the immune system. A relative deficiency of glutamine in such patients could compromise recovery and result in prolonged illness and an increase in late mortality. The purpose of this clinical study is to observe the effects of enteral supplement with glutamine granules on protein metabolism in severely burned patients. Forty-eight severe burn patients (total burn surface area 30-75%, full thickness burn area 20-58%) who met the requirements of the protocol joined this double-blind randomized controlled clinical trial. Patients were randomly divided into two groups: burn control group (B group, 23 patients) and glutamine treated group (Gln group, 25 patients). There was isonitrogenous and isocaloric intake in both groups, glutamine and B group patents were supplemented with glutamine granules or placebo (glycine) at 0.5 g/kg per day for 14 days with oral feeding or tube feeding, respectively. The level of plasma glutamine, plasma protein content, urine nitrogen and urine 3-methylhistidine (3-MTH) excretion were determined, wound healing rate of the burned area and hospital stay were recorded. The results showed that there were significant reductions in plasma glutamine level and abnormal protein metabolism. After supplement with glutamine granules for 14 days, the plasma glutamine concentration was significantly higher than that in B group (607.86+/-147.25 micromol/L versus 447.63+/-132.38 micromol/L, P0.05). On the other hand, the amount of urine nitrogen and 3-MTH excreted in Gln group were significantly lower than that in B group. In addition, wound healing was faster and hospital stay days were shorter in Gln group than B group (46.59+/-12.98 days versus 55.68+/-17.36 days, P<0.05). These indicated that supplement glutamine granules with oral feeding or tube feeding could abate the degree of glutamine depletion

Secondary acute pancreatitis to hypertriglyceridemia: presentation of two clinical cases

International Nuclear Information System (INIS)

Jimenez Forero, Sonia Jeanneth; Roa Saavedra, Ximena; Villalba, Maria Claudia

2008-01-01

The acute pancreatitis is a reversible inflammatory process. Hypertriglyceridemia as etiology of the acute pancreatitis reaches frequencies between 1,3 to 11% according to literature when the triglycerides levels of reach values over 1000 mg/dl nevertheless hypertriglyceridemia is observed in 12 to 39% of the acute pancreatitis like factor associate. The objective of the medical treatment is to increase the activity of lipoproteinlipasa and to increase the degradation of vhylomicrones; diminishing therefore the serum triglycerides values of a levels smaller to 500 even to less of 200 mg/dl if is possible with different strategies among of them the insulin. In the present article, we presented two clinical cases of severe pancreatitis induced by hypertriglyceridemia, handled with therapy of insulin infusion with suitable evolution and clinical answer given by significant diminution of the levels of triglycerides, 48 hours post treatment

Atypical presentation of HELLP syndrome: clinical case report

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Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

Prevalence of the Metabolic Syndrome in Latin America and its association with sub-clinical carotid atherosclerosis: the CARMELA cross sectional study

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Torres Marta

2009-09-01

Full Text Available Abstract Background Metabolic syndrome increases cardiovascular risk. Limited information on its prevalence in Latin America is available. The Cardiovascular Risk Factor Multiple Evaluation in Latin America (CARMELA study included assessment of metabolic syndrome in 7 urban Latin American populations. Methods CARMELA was a cross-sectional, population-based, observational study conducted in Barquisimeto, Venezuela; Bogota, Colombia; Buenos Aires, Argentina; Lima, Peru; Mexico City, Mexico; Quito, Ecuador; and Santiago, Chile. The prevalence of metabolic syndrome, defined according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III, and associated carotid atherosclerosis were investigated in 11,502 participants aged 25 to 64 years. Results Across CARMELA cities, metabolic syndrome was most prevalent in Mexico City (27% and Barquisimeto (26%, followed by Santiago (21%, Bogota (20%, Lima (18%, Buenos Aires (17%, and Quito (14%. In nondiabetic participants, prevalence was slightly lower but followed a comparable ranking. Overall, 59%, 59%, and 73% of women with high triglycerides, hypertension, or glucose abnormalities, respectively, and 64%, 48% and 71% of men with abdominal obesity, hypertension, or glucose abnormalities, respectively, had the full metabolic syndrome. Prevalence of metabolic syndrome increased with age, markedly so in women. Mean common carotid artery intima-media thickness (CCAIMT and prevalence of carotid plaque increased steeply with increasing numbers of metabolic syndrome components; mean CCAIMT was higher and plaque more prevalent in participants with metabolic syndrome than without. Conclusion The prevalence of metabolic syndrome and its components by NCEP ATP III criteria was substantial across cities, ranging from 14% to 27%. CARMELA findings, including evidence of the association of metabolic syndrome and carotid atherosclerosis, should inform appropriate clinical and public health

Clinical significance of determination of changes of plasma ET-1 and CGRP contents in elderly males with metabolic syndrome

International Nuclear Information System (INIS)

Sun Xiaoming; Luo Nanping; Bai Lu; Wang Xueping

2005-01-01

Objective: To investigate the significance of changes of plasma endothelin-1 (ET-1) and calcitonin gene related peptide (CGRP) contents in elderly males with metabolic syndrome. Methods: Plasma ET-1 and CGRP contents were measured with RIA in 65 elderly males with hypertension and 65 elderly males with diabetes. The blood lipid and sugar contents were measured simultaneously. 35 controls entered this study. Results: The plasma ET-1 contents in elderly males with simple hypertension, diabetes and metabolic syndrome were all significantly higher than those in controls (P<0.01, P<0.05, P<0.05). Levels in hypertensives were significantly higher than those in diabetics (P<0.05). The plasma CGRP levels in the elderly males with hypertension and with metabolic syndrome were all significantly lower than those in controls (P<0.05, P<0.05). The CGRP levels in these subjects were significantly negatively correlated with the ET-1 levels (r= -0.75, P<0.01; r=-0.53, P<0.01). Conclusion: Changes of plasma ET-1 and CGRP levels in elderly males with metabolic syndrome were clinically significant, especially in the pathogenesis of hypertension. (authors)

Essential amino acid metabolism in infected/non-infected, poor, Guatemalan children

International Nuclear Information System (INIS)

Mazariegos, M.; De Vettorazzi, C.; Solomons, N.W.; Caballero, B.

1994-01-01

Traditional methods used to evaluate protein metabolism left unanswered some of the relevant questions in public health in developing countries, such as growth retardation in children. Particularly, in developing countries, infection (clinical and subclinical) and malnutrition are still relevant problems, and the most important scientific issues for the application of stable isotope tracer methods are related to the impact of infection, such as the oxidative disposal of essential amino acids in well-nourished and malnourished children. The objectives of the present proposal are: (1) To simplify, make less expensive, less time-consuming, and less invasive, methods in clinical research on amino acid metabolism using stable-isotope tracers in children; and (2) To assess the effects of infection (clinical or subclinical) on whole-body protein turnover in children with and without malnutrition. The objectives involve the engineering and assessment of a portable instrument to be used in evaluations of protein oxidation in the developing world. Methodological issues such as intra- and inter-subject variability, which are of great importance for the interpretation of amino acid metabolism and protein turnover, will also be considered. 18 refs, 2 figs

Essential amino acid metabolism in infected/non-infected, poor, Guatemalan children

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Mazariegos, M; De Vettorazzi, C; Solomons, N W [Hospital de Ojos y Oidos ` ` Dr. Rodolfo Robles V.` ` , Guatemala City (Guatemala). Centre for Studies of Sensory Impairment, Aging and Metabolism (CeSSIAM); Caballero, B [Johns Hopkins Univ., Baltimore, MD (United States). Centre for Human Nutrition

1994-12-31

Traditional methods used to evaluate protein metabolism left unanswered some of the relevant questions in public health in developing countries, such as growth retardation in children. Particularly, in developing countries, infection (clinical and subclinical) and malnutrition are still relevant problems, and the most important scientific issues for the application of stable isotope tracer methods are related to the impact of infection, such as the oxidative disposal of essential amino acids in well-nourished and malnourished children. The objectives of the present proposal are: (1) To simplify, make less expensive, less time-consuming, and less invasive, methods in clinical research on amino acid metabolism using stable-isotope tracers in children; and (2) To assess the effects of infection (clinical or subclinical) on whole-body protein turnover in children with and without malnutrition. The objectives involve the engineering and assessment of a portable instrument to be used in evaluations of protein oxidation in the developing world. Methodological issues such as intra- and inter-subject variability, which are of great importance for the interpretation of amino acid metabolism and protein turnover, will also be considered. 18 refs, 2 figs.

Factor xiii deficiency in children-clinical presentation and outcome

International Nuclear Information System (INIS)

Fadoo, Z.; Saleem, A.F.

2008-01-01

To determine the demographic features and clinical outcome of children with Factor XIII deficiency. Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted. A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children (9/10) were less than 5 years of age, out of whom 5 (50%) were infants, and 3 were neonates. Bruises and prolonged bleeding after trauma was the major presenting complaints in 80%, followed by prolonged bleeding from the umbilical stump in 2 patients. Nine patients had past history of prolonged umbilical bleeding. Two patients had history of FXIII D in siblings, while 2 had history of prolonged bleeding in other family members (cause unknown). Consanguinity was present in 80% of the families. Initial coagulation screen were normal in all patients. Two patients had intracranial hemorrhage, proved on neuro-imaging, were managed with plasma infusions and required craniotomy. The rest were managed conservatively with plasma transfusions. All were discharged alive in good clinical condition. Almost all were followed regularly in clinic with monthly cryoprecipitate transfusions. Although factor XIII deficiency is a rare genetic disorder in children with history of bruising, prolonged umbilical bleeding, family history of bleeding and consanguinity with normal initial coagulation screen (PT, APTT and platelets), FXIII D should be ruled out. (author)

Volvulus in term and preterm infants - clinical presentation and outcome.

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Horsch, Sandra; Albayrak, Bilge; Tröbs, Ralf-Bodo; Roll, Claudia

2016-06-01

Our aim was to assess if term and preterm infants with volvulus showed different patterns with regard to pathogenesis, clinical presentation and outcome. We reviewed the medical records and imaging data of infants aged less than six months with volvulus treated in a single surgical referral centre from 2006-2013. Volvulus was diagnosed in 19 infants, with no anatomical anomaly in three of the 12 preterm infants and one of the seven term infants. Most cases (74%) presented during the first eight days of life. Later presentations occurred exclusively in preterm infants, with only one of the five having no anatomic anomalies. Bilious vomiting was the leading symptom in six of the seven term infants, while the symptoms in preterm infants were rather nonspecific. Intestinal necrosis, with the need for bowel resection, occurred in one term (14%) infant and nine (75%) preterm infants. The clinical presentation and outcome of volvulus differed between preterm and term infants, but the rate and distribution of underlying anomalies did not differ. Symptoms in preterm infants were often nonspecific and led to a delay in diagnosis. This might have contributed to the higher rate of intestinal necrosis in preterm infants. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Cranberry juice suppressed the diclofenac metabolism by human liver microsomes, but not in healthy human subjects

Science.gov (United States)

Ushijima, Kentarou; Tsuruoka, Shu-ichi; Tsuda, Hidetoshi; Hasegawa, Gohki; Obi, Yuri; Kaneda, Tae; Takahashi, Masaki; Maekawa, Tomohiro; Sasaki, Tomohiro; Koshimizu, Taka-aki; Fujimura, Akio

2009-01-01

AIM To investigate a potential interaction between cranberry juice and diclofenac, a substrate of CYP2C9. METHODS The inhibitory effect of cranberry juice on diclofenac metabolism was determined using human liver microsome assay. Subsequently, we performed a clinical trial in healthy human subjects to determine whether the repeated consumption of cranberry juice changed the diclofenac pharmacokinetics. RESULTS Cranberry juice significantly suppressed diclofenac metabolism by human liver microsomes. On the other hand, repeated consumption of cranberry juice did not influence the diclofenac pharmacokinetics in human subjects. CONCLUSIONS Cranberry juice inhibited diclofenac metabolism by human liver microsomes, but not in human subjects. Based on the present and previous findings, we think that although cranberry juice inhibits CYP2C9 activity in vitro, it does not change the pharmacokinetics of medications metabolized by CYP2C9 in clinical situations. PMID:19694738

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

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Dennis Löffler

2017-03-01

Full Text Available Objective: Variants in Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1 may be causative for obesity as suggested by monogenic cases and association studies. Here we assessed the functional relevance in experimental studies and the clinical relevance through detailed metabolic phenotyping of newly identified and known PCSK1 variants in children. Results: In 52 obese children selected for elevated proinsulin levels and/or impaired glucose tolerance, we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C by sequencing the PCSK1 gene. Patients with the new variants presented with extreme obesity, impaired glucose tolerance, and PCOS. Functionally, c.1095 + 1G > A caused skipping of exon8 translation and a complete loss of enzymatic activity. The protein was retained within the endoplasmic reticulum (ER causing ER stress. The p.S24C variant had no functional effect on protein size, cell trafficking, or enzymatic activity. The known variants rs6230, rs35753085, and rs725522 in the 5′ end did not affect PCSK1 promoter activity.In clinical association studies in 1673 lean and obese children, we confirmed associations of rs6232 and rs6234 with BMI-SDS and of rs725522 with glucose stimulated insulin secretion and Matsuda index. We did not find the new variants in any other subjects. Conclusions: We identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function. In addition to confirming rs6232 and rs6234 in PCSK1 as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism. Our results support the contribution of PCSK1 variants to obesity predisposition in children. Keywords: PCSK1, PC1/3, Obesity, Children, Prohormone convertase 1/3

Methylmalonic Aciduria in Children: Clinical Recommendations

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Alexander A. Baranov

2017-01-01

Full Text Available Methylmalonic acidemia (aciduria is an inherited metabolic disturbance from the group of organic acidemias (acidurias. The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the tactics of dietary correction of metabolic disorders in acute and interstitial periods of the disease are described in details; features of drug treatment are outlined. The necessary information for clinical practice and patients’ everyday life is given in the article.

Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

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Ozyurt Abdullah

2015-06-01

Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

The promising anticancer drug 3-bromopyruvate is metabolized through glutathione conjugation which affects chemoresistance and clinical practice: An evidence-based view.

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El Sayed, Salah Mohamed; Baghdadi, Hussam; Zolaly, Mohammed; Almaramhy, Hamdi H; Ayat, Mongi; Donki, Jagadish G

2017-03-01

3-Bromopyruvate (3BP) is a promising effective anticancer drug against many different tumors in children and adults. 3BP exhibited strong anticancer effects in both preclinical and human studies e.g. energy depletion, oxidative stress, anti-angiogenesis, anti-metastatic effects, targeting cancer stem cells and antagonizing the Warburg effect. There is no report about 3BP metabolism to guide researchers and oncologists to improve clinical practice and prevent drug resistance. In this article, we provide evidences that 3BP is metabolized through glutathione (GSH) conjugation as a novel report where 3BP was confirmed to be attached to GSH followed by permanent loss of pharmacological effects in a picture similar to cisplatin. Both cisplatin and 3BP are alkylating agents. Reported decrease in endogenous cellular GSH content upon 3BP treatment was confirmed to be due to the formation of 3BP-GSH complex i.e. GSH consumption for conjugation with 3BP. Cancer cells having high endogenous GSH exhibit resistance to 3BP while 3BP sensitive cells acquire resistance upon adding exogenous GSH. Being a thiol blocker, 3BP may attack thiol groups in tissues and serum proteins e.g. albumin and GSH. That may decrease 3BP-induced anticancer effects and the functions of those proteins. We proved here that 3BP metabolism is different from metabolism of hydroxypyruvate that results from metabolism of D-serine using D-amino acid oxidase. Clinically, 3BP administration should be monitored during albumin infusion and protein therapy where GSH should be added to emergency medications. GSH exerts many physiological effects and is safe for human administration both orally and intravenously. Based on that, reported GSH-induced inhibition of 3BP effects makes 3BP effects reversible, easily monitored and easily controlled. This confers a superiority of 3BP over many anticancer agents. Copyright © 2017 Elsevier Ltd. All rights reserved.

Suprasellar ganglioglioma presenting with diabetes insipidus in a young boy: a rare clinical presentation.

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Gupta, Ruchika; Suri, Vaishali; Arora, Raman; Sharma, Mehar C; Mishra, Shashwat; Singh, Manmohan; Sarkar, Chitra

2010-02-01

Gangliogliomas are rare tumors composed of an admixture of glial and neuronal components. These usually occur in young patients, who present with therapy-resistant seizures. Clinical presentation of ganglioglioma with diabetes insipidus is extremely rare with only one case reported earlier in the available literature. Due to this rarity, ganglioglioma is not considered in the differential diagnosis in a patient with diabetes insipidus. A 7-year boy presented with polyuria, polydipsia, and progressive visual loss for 18 months. Investigations revealed diabetes insipidus. Radiographic studies of the brain showed a solid and cystic mass in the suprasellar region effacing the third ventricle. Intraoperatively, diffuse thickening of bilateral optic nerves and optic chiasma was noted and a diagnosis of optic glioma was considered. A biopsy of the mass was taken, which on histopathological examination showed features of ganglioglioma. The patient was referred for further radiotherapy but was lost to follow-up. Diabetes insipidus as a presenting symptom of ganglioglioma is extremely rare. This benign tumor should be kept in mind in patients with central diabetes insipidus and a suprasellar mass lesion. This report describes the second such case in the literature.

Acute Psychosis as Major Clinical Presentation of Legionnaires’ Disease

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Ricardo Coentre

2016-01-01

Full Text Available We report a case of a 61-year-old woman who presented with acute psychosis as a major manifestation of Legionnaires’ disease in the absence of other neuropsychiatric symptoms. Clinical history revealed dry cough and nausea. Observation showed fever and auscultation crackles in the lower lobe of the right lung. Laboratory testing demonstrated elevated C-reactive protein and lung chest radiograph showed patchy peribronchial and right lower lobe consolidation. Soon after admission, she started producing purulent sputum. Epidemiological data suggested Legionella pneumophila as possible cause of the clinical picture that was confirmed by urinary antigen detection and polymerase chain reaction of the sputum. She was treated with levofloxacin 750 mg/day for 10 days with complete remission of pulmonary and psychiatric symptoms. She has not had further psychotic symptoms.

Plant-derived therapeutics for the treatment of metabolic syndrome.

Science.gov (United States)

Graf, Brittany L; Raskin, Ilya; Cefalu, William T; Ribnicky, David M

2010-10-01

Metabolic syndrome is defined as a set of coexisting metabolic disorders that increase an individual's likelihood of developing type 2 diabetes, cardiovascular disease and stroke. Medicinal plants, some of which have been used for thousands of years, serve as an excellent source of bioactive compounds for the treatment of metabolic syndrome because they contain a wide range of phytochemicals with diverse metabolic effects. In order for botanicals to be effectively used against metabolic syndrome, however, botanical preparations must be characterized and standardized through the identification of their active compounds and respective modes of action, followed by validation in controlled clinical trials with clearly defined endpoints. This review assesses examples of commonly known and partially characterized botanicals to describe specific considerations for the phytochemical, preclinical and clinical characterization of botanicals associated with metabolic syndrome.

Outline of metabolic diseases in adult neurology.

Science.gov (United States)

Mochel, F

2015-01-01

Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerative diseases for which a metabolic disease is likely, especially when therapeutic interventions are available. Here, the goal is to provide simple clinical, imaging and biochemical tools that can first orientate towards and then confirm the diagnosis of IEM. General guidelines are presented to treat the most common IEM during metabolic crises - acute encephalopathies with increased plasma ammonia, lactate or homocystein, as well as rhabdomyolysis. Examples of therapeutic strategies currently applied to chronic neurometabolic diseases are also provided - GLUT1 deficiency, adrenoleukodystrophy, cerebrotendinous xanthomatosis, Niemann-Pick type C and Wilson disease. Genetic counseling is mandatory in some X-linked diseases - ornithine transcarbamylase deficiency and adrenoleukodystrophy - and recommended in maternally inherited mitochondrial diseases - mutations of mitochondrial DNA. Besides these practical considerations, the contribution of metabolism to the field of adult neurology and neurosciences is much greater: first, with the identification of blood biomarkers that are progressively changing our diagnostic strategies thanks to lipidomic approaches, as illustrated in the field of spastic paraplegia and atypical psychiatric presentations; and second, through the understanding of pathophysiological mechanisms involved in common neurological diseases thanks to the study of these rare diseases. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Bilateral olecranon bursitis – A rare clinical presentation of gout

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Betul Sargın

2018-04-01

Full Text Available Background: Gout is the most common form of crystal arthropathy. Monoarthritis affecting the first metatarsophalangeal joint is the common initial presentation. Bilateral olecranon bursitis is a rare presentation of gout. Aim of the work: To describe the clinical features of bilateral olecranon bursitis as an initial presentation of gout. Case report: A 62-year old male patient presented to the rheumatology clinic , Adnan Menderes University with sudden bilateral elbow pain and swelling for three months . Swellings gradually increased to the size of a golf ball with minimal restriction in the elbow extension (170°. He didn’t have arthritis in the elbows. The patient had medical history of heart failure and chronic obstructive pulmonary disease and medications received included acetylsalicylic acid and diuretics. Blood tests revealed elevated serum uric acid (12.6 mg/dL, with normal renal function tests, erythrocyte sedimentation rate (ESR 43 mm/h and C-reactive protein (CRP 8.8 mg/L. Rheumatoid factor and hepatitis markers were negative. Diagnostic bursal aspiration excluded septic bursitis and under polarized microscopy monosodium urate (MSU crystals were identified with typical negative birefringence. A diagnosis of gout was established. ESR and CRP were normalized after diclofenac potassium (100 mg and colchicine (1.5 mg. Allopurinol 300 mg was added when his joint pain was relieved. Conclusion: This is the first gout case initially presenting with bilateral olecranon bursitis. Bursal fluid analysis is important in such atypical presentation to look for MSU crystals and establish a diagnosis. Keywords: Olecranon bursitis, Gout, Crystal arthropathy, Monosodium urate

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

DEFF Research Database (Denmark)

Meur, Gargi; Simon, Albane; Harun, Nasret

2009-01-01

OBJECTIVE: Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore...... the molecular mechanisms involved. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at ... with early-onset diabetes whose clinical presentation is compatible with MODY. These led to the production of (pre)proinsulin molecules with markedly different trafficking properties and effects on ER stress, demonstrating a range of molecular defects in the beta-cell....

Clinical Presentation of Soft‑tissue Infections and its Management: A ...

African Journals Online (AJOL)

2018-03-05

Mar 5, 2018 ... Background: Soft‑tissue infections vary widely in their nature and severity. A clear approach to the management must allow their rapid identification and treatment as they can be life‑threatening. Objective: Clinical presentation of soft‑tissue infections and its management. Materials and Methods: A ...

Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

Science.gov (United States)

Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

2007-08-01

Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

Modeling of Zymomonas mobilis central metabolism for novel metabolic engineering strategies.

Science.gov (United States)

Kalnenieks, Uldis; Pentjuss, Agris; Rutkis, Reinis; Stalidzans, Egils; Fell, David A

2014-01-01

Mathematical modeling of metabolism is essential for rational metabolic engineering. The present work focuses on several types of modeling approach to quantitative understanding of central metabolic network and energetics in the bioethanol-producing bacterium Zymomonas mobilis. Combined use of Flux Balance, Elementary Flux Mode, and thermodynamic analysis of its central metabolism, together with dynamic modeling of the core catabolic pathways, can help to design novel substrate and product pathways by systematically analyzing the solution space for metabolic engineering, and yields insights into the function of metabolic network, hardly achievable without applying modeling tools.

Metabolic syndrome: clinical concept and molecular basis.

Science.gov (United States)

Funahashi, Tohru; Matsuzawa, Yuji

2007-01-01

The metabolic syndrome is a cluster of insulin resistance, elevated blood pressure, and atherogenic dyslipidemia and is a common basis of cardiovascular diseases (CVD). Although the precise mechanism remains to be elucidated, a practical definition is needed. A worldwide definition that considers increased waist circumference as an essential component has been settled. Visceral fat locates upstream of the liver. Free fatty acids and glycerol derived from visceral fat reach the liver and stimulate lipoprotein synthesis and gluconeogenesis, respectively. The adipose tissue produces a variety of bioactive substances conceptualized as 'adipocytokines'. Overproduction of plasminogen activator inhibitor-1 and tumor necrosis factor- seems to relate to the thrombotic and inflammatory tendency. On the other hand, adiponectin, which has antiatherogenic and antidiabetic activities, is reduced in subjects with metabolic syndrome. In Japan, the waist circumference criterion based on visceral fat accumulation has been adopted. The concept of this syndrome has been widely publicized, and health promotion programs based on the concept have commenced in various areas of the country. Such 'Adipo-Do-It' movement is an incentive to encourage physical exercise to reduce visceral fat and is a big challenge to prevent life-style-related diseases and CVD.

The association of serum leptin levels with metabolic diseases

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Jen-Pi Tsai

2017-01-01

Full Text Available Leptin is a 167-amino-acid protein released by white adipose tissue and encoded by the obese gene. It has a role as a negative regulator of appetite control through sending a satiety signal to act on receptors within the hypothalamus. At normal levels, leptin can exert its effects on weight regulation according to white fat mass, induce sodium excretion, maintain vascular tone, and repair the myocardium. Beyond these effects, elevated serum leptin levels have been implicated in the pathogenesis of metabolic syndrome, diabetes mellitus, hypertension, and multiple cardiovascular diseases. In addition, hyperleptinemia had been reported to contribute to renal diseases through multiple mechanisms resulting in glomerulopathy presenting with a decreased glomerular filtration rate, increased albuminuria, and related clinical symptoms, which are pathophysiological features of chronic kidney disease. Because these cardiovascular and metabolic disorders are great challenges for physicians, understanding the related pathophysiological association with leptin might become a valuable aid in handling patients in daily clinical practice. This review will discuss the roles of leptin in the regulation of biological functions of multiple organs beyond the maintenance of feeding and metabolism.

Study of clinical parameters and laboratory evaluation of metabolic syndrome in adolescents

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Ayesha Imran

2015-01-01

Full Text Available Introduction: Worldwide incidence of obesity is rising. Genetic predisposition, urbanization, sedentary lifestyle, television watching, food habits, and lack of exercise are contributing factors. They result in obesity-related morbidity like metabolic syndrome, stroke in young, coronary artery disease, and diabetes. Materials and Methods: A cross-sectional study was undertaken among 1000 adolescents of both genders, aged 12-19 years in three schools of Pimpri, Pune, after obtaining approval from Institutional Ethical Committee. The criterion used to diagnose metabolic syndrome was International Diabetes Federation definition. The Chi-square test was used to explore the association between metabolic syndrome and various predictors. A P value of 0.05 was accepted as the level of statistical significance. Results: In the study sample, the prevalence of metabolic syndrome was 16/1000. Females were more likely to have metabolic syndrome (male:female = 7:9. Factors associated were body mass index (BMI, waist-hip ratio (WHR, birth weight, skin fold thickness, body fat percentage, faulty dietary habits, and sedentary lifestyles (P < 0.05. Among all, the components of metabolic syndrome, raised triglyceride (75%, and fasting blood sugar level (75% were more prevalent than high-density lipoprotein-cholesterol (44% and hypertension (37.5%. Conclusion: Metabolic syndrome was found to be more prevalent in females of age group 16-19 years, among the obese population, associated with birth weight, BMI, and WHR.

Gastroesophageal Reflux Disease and Metabolic Syndrome

OpenAIRE

Olinichenko, A. V.

2014-01-01

Purpose of the research is to study the features of gastroesophageal reflux disease, combined with the metabolic syndrome. Materials and methods. The study involved 490 patients (250 have got gastroesophageal reflux disease, combined with the metabolic syndrome and 240 have got gastroesophageal reflux disease without the metabolic syndrome). The patients besides general clinical examination were carried out video-fibro-gastro-duodeno-skopy, pH-monitoring in the esophagus, anthropometry, deter...

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Science.gov (United States)

Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A

2017-05-01

Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes. Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included. Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches. Several clinical niches have been identified that harbor patients at increased risk of NP-C.

Clinical presentation and endoscopic features of primary gastric Burkitt lymphoma in childhood, presenting as a protein-losing enteropathy: a case report

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Chieng Jenny Hui Chia

2009-06-01

Full Text Available Abstract Introduction Burkitt lymphoma and B cell lymphomas in childhood may arise in many atypical locations, which on rare occasions can include gastric mucosa. A case of primary gastric Burkitt lymphoma is described in a child presenting as a protein-losing enteropathy, including the direct monitoring of the disease response by sequential endoscopic biopsy and molecular analysis. Case presentation We report a 9-year-old boy who presented with gross oedema, ascites and respiratory distress caused by a protein-losing enteropathy. Initial imaging investigations were non-diagnostic but gastroduodenal endoscopy revealed massive involvement of the gastric mucosa with a primary Burkitt lymphoma. His subsequent clinical progress and disease response were monitored directly by endoscopy and he remains in clinical remission 4 years after initial diagnosis. Conclusions This is the first case report of primary Burkitt lymphoma presenting as a protein-losing enteropathy. The clinical course and progress of the patient were monitored by sequential endoscopic biopsy, histology and molecular analysis by fluorescence in situ hybridisation.

Clinical presentation and mutations in Danish patients with Wilson disease

DEFF Research Database (Denmark)

Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

2011-01-01

This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

Clinical presentation and mutations in Danish patients with Wilson disease

DEFF Research Database (Denmark)

Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

2011-01-01

This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

Changes in brain glucose metabolism in subthalamic nucleus deep brain stimulation for advanced Parkinson's disease.

Science.gov (United States)

Volonté, M A; Garibotto, V; Spagnolo, F; Panzacchi, A; Picozzi, P; Franzin, A; Giovannini, E; Leocani, L; Cursi, M; Comi, G; Perani, D

2012-07-01

Despite its large clinical application, our understanding about the mechanisms of action of deep brain stimulation of the subthalamic nucleus is still limited. Aim of the present study was to explore cortical and subcortical metabolic modulations measured by Positron Emission Tomography associated with improved motor manifestations after deep brain stimulation in Parkinson disease, comparing the ON and OFF conditions. Investigations were performed in the stimulator off- and on-conditions in 14 parkinsonian patients and results were compared with a group of matched healthy controls. The results were also used to correlate metabolic changes with the clinical effectiveness of the procedure. The comparisons using Statistical parametric mapping revealed a brain metabolic pattern typical of advanced Parkinson disease. The direct comparison in ON vs OFF condition showed mainly an increased metabolism in subthalamic regions, corresponding to the deep brain stimulation site. A positive correlation exists between neurostimulation clinical effectiveness and metabolic differences in ON and OFF state, including the primary sensorimotor, premotor and parietal cortices, anterior cingulate cortex. Deep brain stimulation seems to operate modulating the neuronal network rather than merely exciting or inhibiting basal ganglia nuclei. Correlations with Parkinson Disease cardinal features suggest that the improvement of specific motor signs associated with deep brain stimulation might be explained by the functional modulation, not only in the target region, but also in surrounding and remote connecting areas, resulting in clinically beneficial effects. Copyright © 2012 Elsevier Ltd. All rights reserved.

Oxidative metabolism in muscle.

OpenAIRE

Ferrari, M; Binzoni, T; Quaresima, V

1997-01-01

Oxidative metabolism is the dominant source of energy for skeletal muscle. Near-infrared spectroscopy allows the non-invasive measurement of local oxygenation, blood flow and oxygen consumption. Although several muscle studies have been made using various near-infrared optical techniques, it is still difficult to interpret the local muscle metabolism properly. The main findings of near-infrared spectroscopy muscle studies in human physiology and clinical medicine are summarized. The advantage...

Clinical presentation in patients with systemic sclerosis

International Nuclear Information System (INIS)

Silvarino, R.; Rebella, M.; Alonso, J.; Cairoli, E.

2009-01-01

Introduction: systemic sclerosis is an autoimmune disease characterized by endothelial damage, and skin, vessel and internal organ fibrosis and inflammation. There are differences in terms of frequency, severity and prognosis for the different ethnic groups, what reinforces the importance of the study in each geographical region with the purpose of enabling early diagnosis of its incipient symptoms.Methods: we conducted a descriptive and retrospective study form March 2006 through March 2008, including patients with a final diagnosis of systemic sclerosis, who are treated at the Systemic Autoimmune Diseases Unit at the Clinicas Hospital. Results: 31 women were included in the study, average follow-up of patients was 39.2 months, and average age at the time of diagnosis was 47.6 years. Eleven patients (35,5) presented diffuse disease and 20 (64.5) of them evidenced limited disease. Thirty patients presented Raynaud's phenomenon. In 92 of cases capilaroscopy showed a sclerodermiform pattern. In terms of the respiratory system, we found interstitial pathology in 25 of cases, pulmonary arterial hypertension in 22.2 and are restrictive pattern in respiratory function studies in 35.5. Also, 67.7 presented digestive manifestations and 9.6 developed sclerodermic renal crisis. We found anti-nuclear antibodies (ANA) in 29 out of 31 patients (93,5) patients; 16 presented anticentromere antibodies and five anti-topoisomerasa-I antibodies. The four patients (12.9)who died during follow-up presented common elements such as diffuse sclerosis, digital ulcers and severe respiratory compromise. Conclusions: the clinical and immune characteristics found in our study were similar to those described in other series. Should there be no specific treatment, it is essential to perform regular assessment of visceral impact in order to control and delay complications which result in high morbimortality rates. (author) [es

Invited review: Opportunities for genetic improvement of metabolic diseases.

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Pryce, J E; Parker Gaddis, K L; Koeck, A; Bastin, C; Abdelsayed, M; Gengler, N; Miglior, F; Heringstad, B; Egger-Danner, C; Stock, K F; Bradley, A J; Cole, J B

2016-09-01

Metabolic disorders are disturbances to one or more of the metabolic processes in dairy cattle. Dysfunction of any of these processes is associated with the manifestation of metabolic diseases or disorders. In this review, data recording, incidences, genetic parameters, predictors, and status of genetic evaluations were examined for (1) ketosis, (2) displaced abomasum, (3) milk fever, and (4) tetany, as these are the most prevalent metabolic diseases where published genetic parameters are available. The reported incidences of clinical cases of metabolic disorders are generally low (less than 10% of cows are recorded as having a metabolic disease per herd per year or parity/lactation). Heritability estimates are also low and are typically less than 5%. Genetic correlations between metabolic traits are mainly positive, indicating that selection to improve one of these diseases is likely to have a positive effect on the others. Furthermore, there may also be opportunities to select for general disease resistance in terms of metabolic stability. Although there is inconsistency in published genetic correlation estimates between milk yield and metabolic traits, selection for milk yield may be expected to lead to a deterioration in metabolic disorders. Under-recording and difficulty in diagnosing subclinical cases are among the reasons why interest is growing in using easily measurable predictors of metabolic diseases, either recorded on-farm by using sensors and milk tests or off-farm using data collected from routine milk recording. Some countries have already initiated genetic evaluations of metabolic disease traits and currently most of these use clinical observations of disease. However, there are opportunities to use clinical diseases in addition to predictor traits and genomic information to strengthen genetic evaluations for metabolic health in the future. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

A typical presentation of acute myeloid leukemia

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Udayakumar N

2006-01-01

Full Text Available A young man who presented with fever, altered sensorium and sudden onset tachypnea, is described. Arterial blood gas analysis, revealed the presence of severe high anion gap metabolic acidosis, with compensatory respiratory alkalosis and normal oxygen saturation. A detailed neurological, nephrological, biochemical and hematological evaluation, revealed the presence of Acute myeloid leukemia, with lactic acidosis and hyponatremia. There are very few reports of presentation of leukemia as lactic acidosis. This case report highlights the need for emergency room physicians, to consider the possibility of lactic acidosis, as one of the causes of high anion gap acidosis and to meticulously investigate the cause of lactic acidosis. We describe a rare clinical instance of lactic acidosis as the presenting manifestation of Acute myeloid leukemia.

The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations, Anthropometric Indices and Metabolic Characteristics.

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Shahrami, Seyedeh Hajar; Abbasi Ranjbar, Zahra; Milani, Forozan; Kezem-Nejad, Ehsan; Hassanzadeh Rad, Afagh; Dalil Heirat, Seyedeh Fatemeh

2016-02-01

Critical issue regarding to variation of findings based on different phenotypes led investigators to define whether they are distinct features or overlapping ones. Therefore, we aimed to investigate the association between diverse phenotypes of PCOS (Poly Cystic Ovary Syndrome) with clinical manifestations, anthropometric indices, and metabolic characteristics. This was a descriptive cross-sectional study conducted in 15-39 years old women with PCOS referred to infertility clinics in the north part of Iran, Rasht during 2010-2011. Data were gathered through an interview by a form consisted of demographic characteristics, laboratory findings, ovarian volume and anthropometric indices. A total of 214 patients consisted of 161 PCOS (cases) and 53 normal women (controls) participated in this study. The most prevalent phenotype in PCOS population was IM/PCO/HA (54%), followed by IM/HA (28%) and IM/PCO (13%). PCO/HA was present only in 6 PCOS patients (5%). PCOS patients were significantly younger than controls (P=0.07). Results showed that increased ovarian volume were higher in PCOS group in comparison with controls and IM/PCO/HA, and IM/PCO had respectively the largest ovarian volumes. Also, a significant relation was observed based on Cholesterol, 17OHP, LH, TG, 2hpp, and LH/FSH between patients with PCOS and control groups. There were significant differences in demographic, anthropometric, hormonal and ultrasound findings between PCOS and controls. Therefore, it seems that classification of the characteristics of each phenotype could offer an appropriate guide for screening risks of PCOS and may facilitate performing most favorable treatment for these complications.

In vivo neuro MR spectroscopy: a non-invasive insight into cerebral metabolism

International Nuclear Information System (INIS)

Rose, S.; De Zubicaray, G.; Wang, D.; Galloway, G.; Doddrell, D.; Chalk, J.; University of Queensland, Brisbane, QLD; Eagle, S.; Semple, J.

1999-01-01

In addition to conventional magnetic resonance imaging (MRI) for examining anatomical structure, in vivo proton magnetic resonance spectroscopy (MRS) is currently being used as a non-invasive clinical tool for monitoring altered brain metabolism. Conditions such as head injury, dementia, multiple sclerosis, tumour, stroke, epilepsy and inborn errors of metabolism are all presently being investigated with MRS. At the Centre for Magnetic Resonance, we are currently undertaking a longitudinal study of dementia progression in Alzheimer's disease (AD) utilising both MRS and volumetric MRI techniques. The aim is to identify metabolic differences between this patient group and normal older adults and to correlate these measures with cognitive function. Cerebral artrophy, or loss of brain matter, together with ventricular enlargement , or enlargement of normally occuring cavities, is clearly present on MRI exams in patients with moderate and severe AD

Metabolic imaging using PET

International Nuclear Information System (INIS)

Kudo, Takashi

2007-01-01

There is growing evidence that myocardial metabolism plays a key role not only in ischaemic heart disease but also in a variety of diseases which involve myocardium globally, such as heart failure and diabetes mellitus. Understanding myocardial metabolism in such diseases helps to elucidate the pathophysiology and assists in making therapeutic decisions. As well as providing information on regional changes, PET can deliver quantitative information about both regional and global changes in metabolism. This capability of quantitative measurement is one of the major advantages of PET along with physiological positron tracers, especially relevant in evaluating diseases which involve the whole myocardium. This review discusses major PET tracers for metabolic imaging and their clinical applications and contributions to research regarding ischaemic heart disease and other diseases such as heart failure and diabetic heart disease. Future applications of positron metabolic tracers for the detection of vulnerable plaque are also highlighted briefly. (orig.)

Hoarding behaviour in Xhosa patients with schizophrenia - prevalence and clinical presentation

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T Ameer

2007-12-01

Full Text Available Objective:Hoarding is commonly defined as the acquisition ofand failure to discard possessions of little use or value, and isincluded as a symptom in the diagnostic criteria for obsessivecompulsive personality disorder (OCPD and obsessivecompulsive disorder (OCD. However, it has also beenobserved in other clinical syndromes including schizophrenia.This study was conducted to investigate the prevalence andclinical presentation of hoarding behaviour in schizophreniaamong Xhosa patients.Method:The sample consisted of 102 patients, recruited aspart of a larger genetic study in the Cape Town metropolebetween November 2004 and January 2005, diagnosed withschizophrenia or schizoaffective disorders according to theDiagnostic and Statistical Manual of Mental Disorders(DSM-IVcriteria. They were screened for clinically significant hoardingsymptoms. If these were present, additional information onthe phenomenology was obtained by means of a structuredquestionnaire. The Mini International Neuropsychiatric Interview(MINI (screen and full version, the Yale Brown ObsessiveCompulsive Scale (Y-BOCS Checklist, Y-BOCS, Clutter ImageRating Scale (CIRS and a structured questionnaire on hoardingwere administered.Results:Only four patients with schizophrenia were classifiedas hoarders. Although their clinical presentation resembled thatof hoarders described elsewhere in the literature, they had lowY-BOCS scores and did not report other obsessive-compulsivesymptoms.Conclusion:Our results suggest that hoarding behaviour isnot common in Xhosa patients with schizophrenia. Furtherinvestigation of protective factors for hoarding behaviour in theXhosa population is warranted.

Frequency and clinical presentation of UTI among children of Hazara Division, Pakistan.

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Anis-ur-Rehman; Jahanzeb, Muhammad; Siddiqui, Tahir Saeed; Idris, Muhammad

2008-01-01

Urinary tract infection is common in children and result in permanent renal damage and end stage renal failure in significant number of patients. It is imperative to diagnose urinary tract infection early and to treat adequately. We carried out this study to look into frequency and clinical profile of UTI in children admitted in our unit. Three hundred and seventy five patients with UTI, diagnosed by urine culture with age from 0-15 years admitted in pediatric unit during 2003-2006 were included in study. Urine sample for culture was collected by midstream clean catch, urine collecting bag and Suprapubic methods depending upon the age of patient. A proforma was used to record clinical presentation and laboratory findings of these patients. Frequency of Urinary tract infections among children examined by urine culture was 375 out of 1000 (37.5%) out of which 36 (9.6%) were male and 339 (90.4%) were females. Almost half of them 48.5% were less than 3 years old. About 60% of patients belong to Kohistan and Batagram districts and failure to thrive was common presenting feature (56.6%) in patients of these two districts. Fever was common clinical presentation 91% followed by Dysuria (65%) and failure to thrive (40%). Frequency and clinical profile of urinary tract infection in children in Hazara Division is not significantly different from that of developing and developed countries.

Clinical Presentation And Outcome Of Snake-Bite Patients At Zamko ...

African Journals Online (AJOL)

Objective: To assess the pattern of clinical presentation and management outcome of snake bite victims treated in a comprehensive health centre in a rural setting in North-Central zone of Nigeria where snake bite morbidity and mortality are known to be unacceptably high. Methods: All records of admission in the ...

Thyroid Autoantibodies and the Clinical Presentation of Moyamoya Disease: A Prospective Study.

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Lanterna, Luigi A; Galliani, Silvia; Zangari, Rosalia; Conti, Luciano; Brembilla, Carlo; Gritti, Paolo; Colleoni, Maria Luisa; Bernucci, Claudio

2018-05-01

Moyamoya is a rare cerebrovascular disease characterized by the progressive occlusion of the intracranial carotid artery. Thyroid autoantibodies have been found to be associated with the disease, but their clinical significance has never been studied. The objective of this study was to investigate the relationship between thyroid autoantibodies and the clinical presentation of moyamoya. This is a prospective study including 37 patients with moyamoya disease (MMD) or unilateral moyamoya (uMM). Thyroid function and thyroid autoantibodies (e.g., antithyroperoxidase and antithyroglobulin) were investigated. We studied the effect of gender, age, type of moyamoya (uMM versus MMD), and thyroid autoantibodies on the clinical presentation, dichotomized into aggressive (hemorrhage, major stroke, or frequent transient ischemic attack [TIA]) and nonaggressive presentation (headache, rare TIAs, and incidental diagnosis) according to the criteria of the Research Committee on Spontaneous Occlusion of the Circle of Willis. Of the 37 patients included in the study, the autoantibodies were elevated in 9 (24.3%). An aggressive presentation occurred in 21 patients (hemorrhage in 11, major stroke in 9, frequent TIAs in 1). The autoantibodies were elevated in 8 of the 21 patients (38.09%) with an aggressive presentation and in 1 of those presenting with minor symptoms (6.2%). The presence of elevated autoantibodies was the only variable associated with an aggressive presentation in the multivariate logistic analysis (P = .048). When the serum concentration of the thyroid autoantibodies is increased, the patients have a higher risk of an aggressive presentation. Our results support the hypothesis that activation of immune-mediated processes affects the moyamoya physiopathology. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

METABOLIC THERAPY IN PATIENTS WITH ISCHEMIC STROKE

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L. B. Zavaliy

2018-01-01

Full Text Available The article shows the world experience of metabolic therapy use in the treatment of ischemic stroke. The issue still remains prominent. The reasonability of prescribing metabolic drugs is not completely clear, its effectiveness has not been fully proved, despite numerous studies which show only trends. The article presents an overview of the most popular drugs of different pharmacological groups with a metabolic effect which affect different parts of the ischemic cascade. Ethylmethylhydroxypyridine succinate and cytoflavin have predominantly antihypoxic effect, improve functional outcome and neurological functions, and normalize overall well-being and adaptation. Cerebrolysin is a complex of low molecular weight biologically active peptides derived from the pig’s brain. It has a multimodal effect on the brain, helps to reduce the volume of cerebral infarction, restores neurologic functions and improves the functional outcome. Cortexin is a mixture of cattle brain polypeptides, also has a complex action that provides the most complete reversion of neurological deficit, improves cognitive functions and the functional outcome, reduces the level of paroxysmal convulsive readiness and improves bioelectric activity of the brain. Citicoline is a precursor of cell membrane key ultrastructures, contributes to significant reduction in the volume of cortical brain damage, improves cholinergic transmission, which results in better clinical outcome, even despite the questionable impact on the neurological status. Choline Alfoscerate is a precursor of choline, and the use of the drug significantly limits the growth of the cerebral infarction area starting from the first day of therapy, leads to reversion of neurological symptoms and achievement of rehabilitation goals. Actovegin is deproteinized derivative of calf blood, activates metabolism in tissues, improves trophism and stimulates regeneration. In a large study, it was shown that Actovegin improved

Lymphogranuloma Venereum-Serovar L2b Presenting With Painful Genital Ulceration: An Emerging Clinical Presentation?

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Haber, Roger; Maatouk, Ismaël; de Barbeyrac, Bertille; Bagot, Martine; Janier, Michel; Fouéré, Sébastien

2017-05-01

These 5 cases of atypical inflammatory lymphogranula venereum (LGV) serovar L2b presenting initially with edema and persistent painful ulceration illustrate that clinical manifestations of LGV in the current outbreak in men who have sex with men reflect the influence of both the serovars virulence and the host immune system and are not confined to proctitis. L2b serovar could have a particular high virulence profile, and the need for awareness of LGV as a cause of genital ulceration is crucial.

Clinical, hormonal and metabolic characteristics of polycystic ovary syndrome among obese and nonobese women in the Croatian population.

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Baldani, Dinka Pavicić; Skrgatić, Lana; Goldstajn, Marina Sprem; Vrcić, Hrvoje; Canić, Tomislav; Strelec, Mihajlo

2013-06-01

Obesity has a deteriorating impact on women with PCOS, although prevalence and the impact of specific traits of PCOS remain inconstant in different populations. Therefore, the aim of this study was to explore the differences in clinical, hormonal and metabolic features between obese and nonobese Croatian women diagnosed as having PCOS according to Rotterdam consensus criteria. The study included 74 obese and 208 nonobese women with PCOS. Clinical, biochemical and metabolic variables were compared among those PCOS subgroups. Obese subjects with PCOS had a higher risk of developing oligo-amenorrhea (OR 3.7; 95% CI, 1.1-12.5) and lower risk for developing hirsutism and acne (OR 0.2; 95% CI, 0.1-0.3 and OR 0.8; 95% CI 0.5-1.4, respectively). Obese PCOS subjects also had a higher risk of developing hyperandrogenemia (OR 2.5; CI 95% 0.9-6.7), insulin resistance (OR 4.5; CI 95%, 2.6-7.9), hypercholesterolemia (OR 5.0, CI 95% 2.5-10.2), hypertriglyceridemia (OR 5.2; 95% CI, 2.9-9.2) as well as elevated serum CRP levels (OR 4.1; 95% CI 1.4-12.2) compared to nonobese PCOS women. In conclusion, nonobese Croatian women with PCOS are more inclined to cosmetic problems associated with PCOS then metabolic ones. This is the first study to report the impact of obesity on acne and irregular menses as a study outcome. Obesity deteriorates menstrual regularity, insulin sensitivity and lipid profile in Croatian women with PCOS; therefore one of the fundamental treatment strategies of PCOS should be obesity prevention.

Integration of Genome Scale Metabolic Networks and Gene Regulation of Metabolic Enzymes With Physiologically Based Pharmacokinetics.

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Maldonado, Elaina M; Leoncikas, Vytautas; Fisher, Ciarán P; Moore, J Bernadette; Plant, Nick J; Kierzek, Andrzej M

2017-11-01

The scope of physiologically based pharmacokinetic (PBPK) modeling can be expanded by assimilation of the mechanistic models of intracellular processes from systems biology field. The genome scale metabolic networks (GSMNs) represent a whole set of metabolic enzymes expressed in human tissues. Dynamic models of the gene regulation of key drug metabolism enzymes are available. Here, we introduce GSMNs and review ongoing work on integration of PBPK, GSMNs, and metabolic gene regulation. We demonstrate example models. © 2017 The Authors CPT: Pharmacometrics & Systems Pharmacology published by Wiley Periodicals, Inc. on behalf of American Society for Clinical Pharmacology and Therapeutics.

Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

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Neha Agarwal

2017-01-01

Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

Effects Of Music Therapy On Clinical And Biochemical Parameters Of Metabolic Syndrome

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Rajnee

2011-12-01

Full Text Available Background: Music therapy is a new approach being used for the management of metabolic abnormalities and stress related illness.Objective: To study the effect of Music therapy on various clinical and biochemical parameters of Metabolic Syndrome.Methods: This cross sectional study was carried out on 100 patients of metabolic syndrome selected randomly. These patients were divided into two equal groups after age, sex adjustment. In control group (group I 50 patients underwent the conventional treatment. 50 patients in study group were treated with supervised music protocol along with conventional treatment. The Body Mass Index, ;Waist-Hip ratio, Blood pressure, Fasting blood sugar were monitored weekly while HbA1c and lipid profile were determined at the baseline and after three months of exposure to music therapy. Statistical analysis was performed by employing student t- test.Results: In the study group there was a significant decrease in BMI (27.18±5.02 to 25.44±3.49 kg/m2, p<0.05, waist hip ratio (0.95±0.05 to 0.93±0.05 cm, p<0.05, Fasting blood sugar (196.00±47.80mg/ dl to152.00±16.19mg/dl , p<0.001, HbA1c (8.41±1.31% to 7.08±0.78 % p<0.001, Systolic Blood Pressure (151.00±12.10 to 136±9.04 mmHg p<0.001, Diastolic Blood Pressure (94±4.80 to 86.44±3.16 mmHg, p<0.01, Mean serum cholesterol (257.80±18.92 to 229.12±17.82mg/dl, p<0.001 and triglycerides (180.86±14.04 to 136.50±8.92mg/dl, p<0.001, LDL (167.97±14.40 to 140.20±15.41mg/dl, p<0.001, and VLDL (33.60±2.88 to 28.04±3.08mg/dl, p<0.001 and increase in HDL (33.32±3.38 to 39.71±3.41mg/dl, p<0.001, when compared with those of control group not receiving the music therapy along with the conventional treatment.Conclusion: The promising outcomes of Music therapy showed that it may be considered as a useful adjunct to conventional treatment in management of the metabolic syndrome. This study advocates music therapy to establish it from a general well being concepts to a

Diagnostic evaluation of patients presenting with hirsutism

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İsmail Zeki Tekiş

2014-03-01

Full Text Available Objective: Hirsutism, similar to men, is the presence of terminal hairs in androgen-to sensitive areas in women. The present report aimed to study etiology and determine the prevalence of the diseases that causes hirsutism in these patients. Methods: In this study, total number of 40 patients who admitted because of hirsutism to Department of Endocrinology and Metabolism clinic was enrolled. Demographic, clinical and laboratory parameters of the patients were evaluated. Results: Result of the study showed that polycystic ovary syndrome is the most common cause of hirsutism. The second most common cause was found as idiopathic hirsutism. Conclusion: By the present study, etiologic factors of hirsutism were examined firstly in our region in which Ethnic and cultural diversity is concentrated. In rare cases like Cushing's syndrome, hyperprolactinemia, non-classic adrenal hyperplasia, androgen-secreting tumors should be considered in the differential diagnosis of hirsutism. J Clin Exp Invest 2014; 5 (1: 69-75

Etiology and outcome of inborn errors of metabolism

International Nuclear Information System (INIS)

Choudhry, S.; Khan, M.; Khan, E.A.

2013-01-01

Objectives: To study the clinical presentation, diagnostic workup and outcome of children presenting with suspected inborn errors of metabolism. Methods: The cross-sectional study was conducted at the Shifa International Hospital, Islamabad, and included all patients diagnosed with the condition between January 2006 and June 2011. Medical records of the patients were reviewed to collect the relevant data. Results: A total of 10 patients underwent diagnostic work-up. Majority 7 (70%) were males and 6 (60%) presented in the neonatal age group. Seizures and coma were the commonest presentations (n=5; 50% each) followed by breathing difficulty (n=4; 40%) and vomiting (n=2; 20%). The commonest diagnoses were methyl malonic acIdaemia (n=2; 20%), non-ketotic hyperglycinaemia (n=7; 10%), fructose 1,6 diphosphatase deficiency (n=1; 10%), and biotinidase deficiency (n=1; 10%). Mortality was high (n=5; 50%) and half of the survivors had severe neurological impairment. Conclusion: The diagnosis of inborn errors of metabolism requires a high index of suspicion. These disorders have a high mortality and risk of long-term neurological disability. (author)

[Clinical presentation of different severities of hemorrhagic fever with renal syndrome: how to recognise it].

Science.gov (United States)

Lausević, Mirjana; Lausević, Zeljko; Stojimirović, Biljana

2012-07-01

Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. A total of 30 patients (27 men and 3 women), average age 40 +/- 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30%) had mild, 14 (46.7%) moderate and 7 (23.3%) severe form of the disease; 24 (800%) recovered, 6 (20%) died in the acute phase of the illness, and 19 patients (63.3%) required hemodialysis. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables' combinations associated with clinical presentation of the disease. Our study confirmed that we can distinguish patients who will manifest different severities of the disease on the basis of careful

Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

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Laušević Mirjana

2012-01-01

Full Text Available Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women, average age 40 ± 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30% had mild, 14 (46.7% moderate and 7 (23.3% severe form of the disease; 24 (80% recovered, 6 (20% died in the acute phase of the illness, and 19 patients (63.3% required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different

Evaluation of empowerment model on indicators of metabolic control in patients with type 2 diabetes, a randomized clinical trial study.

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Ebrahimi, Hossein; Sadeghi, Mahdi; Amanpour, Farzaneh; Vahedi, Hamid

2016-04-01

Diabetes education is a major subject in achieving optimal glycemic control. Effective empowerment approach can be beneficial for improving patients' health. The aim of this study was to evaluate the effect of empowerment model on indicators of metabolic control in patients with type 2 diabetes. a randomized controlled trial of 103 patients with type 2 diabetes were randomly assigned to either the intervention (empowerment approach training) or the control group (conventional training) 2014. Empowerment approach training were performed for the experimental group for eight weeks. Data collection tool included demographic information form and indicators of metabolic control checklist. Analysis was performed by one-way analysis of variance, chi-square test, paired t-test, independent t-test and multiple linear regression. Before the intervention, two groups were homogeneous in terms of demographic variables, glycosylated hemoglobin (HbA1C), and other indicators of metabolic control. After the intervention, average HbA1C and other metabolic indicators except for LDL showed significant differences in the experimental group compared to the control group. study results indicated the positive effects of applying the empowerment model on the metabolic control indicators. Therefore, applying this model is recommended to nurses and the relevant authorities in order to improve clinical outcomes in diabetic patients. Copyright © 2015 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.

Metabolic and Electrophysiological Changes Associated to Clinical Improvement in Two Severely Traumatized Subjects Treated With EMDR—A Pilot Study

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Marco Pagani

2018-04-01

Full Text Available Neuroimaging represents a powerful tool to investigate the neurobiological correlates of Eye Movements Desensitization and Reprocessing (EMDR. The impact of EMDR on cortical and sub-cortical brain regions has been proven by several investigations demonstrating a clear association between symptoms disappearance and changes in cortical structure and functionality. The aim of this study was to assess by electroencephalography (EEG and for the first time by positron emission tomography (PET the changes occurring after EMDR therapy in two cases of psychological trauma following brain concussion and comatose state due to traffic accident. A 28 and a 29 years old men underwent extensive neuropsychological examination, which investigated: (i categorical and phonological verbal fluency; (ii episodic verbal memory; (iii executive functions; (iv visuospatial abilities; (v attention and working memory as well as clinical assessment by means of psychopathological tests (CAPS, IES, BDI, SCL90R, and DES. They were then treated by eight sessions of EMDR. During the first session EEG monitoring was continuously performed and 18F-FDG PET scans, depicting brain metabolism, were acquired at rest within a week (T0. After the last session, in which the two clients were considered to be symptoms-free, neuropsychological, clinical, and PET assessment were repeated (T1. PET data were semi-quantitatively compared to a group of 18 normal controls, as for EEG the preferential cortical activations were disclosed by thresholding the individual z-score to a p < 0.05. There was a significant improvement in clinical condition for both clients associated with a significant decrease in CAPS scores. IES and BDI were found to be pathological at T0 and improved at T1 in only one subject. Visuo-constructive abilities and abstract reasoning improved after EMDR in both subjects. As for EEG, the most striking changes occurred in fronto-temporal-parietal cortex in subject 1 while subject

The presentation of rickets to orthopaedic clinics: return of the English disease.

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Naseem, Haris; Wall, Alun P; Sangster, Marshall; Paton, Robin W

2011-04-01

Rickets is a potentially treatable disease of the bone that is most commonly due to deficiency of vitamin D and is increasing in incidence in developed countries. Risk factors include dietary factors, the practice of covering up and darker skin pigmentation. This small retrospective case study set out to examine all cases of rickets presenting to the Paediatric Orthopaedic clinic over a 15-month period. Rickets presented in a bimodal fashion in the 6 cases identified: in males and females aged 3 or less and female adolescents aged 10 and above. This is in keeping with what is known regarding the rapid phases of growth during development. Five cases were from ethnic minority groups. Both female adolescents presented with genu valgum. Rickets can present primarily to Orthopaedic clinics with vague musculoskeletal symptoms. We recommend that biochemical screening be performed on patients from ethnic minorities who may be 'at risk'.

Celiac disease: A missed cause of metabolic bone disease

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Ashu Rastogi

2012-01-01

Full Text Available Introduction: Celiac disease (CD is a highly prevalent autoimmune disease. The symptoms of CD are varied and atypical, with many patients having no gastrointestinal symptoms. Metabolic bone disease (MBD is a less recognized manifestation of CD associated with spectrum of musculoskeletal signs and symptoms, viz. bone pains, proximal muscle weakness, osteopenia, osteoporosis, and fracture. We here report five patients who presented with severe MBD as the only manifestation of CD. Materials and Methods: Records of 825 patients of CD diagnosed during 2002-2010 were retrospectively analyzed for clinical features, risk factors, signs, biochemical, and radiological parameters. Results: We were able to identify five patients (0.6% of CD who had monosymptomatic presentation with musculoskeletal symptoms and signs in the form of bone pains, proximal myopathy, and fragility fractures without any gastrointestinal manifestation. All the five patients had severe MBD in the form of osteopenia, osteoporosis, and fragility fractures. Four of the five patients had additional risk factors such as antiepileptic drugs, chronic alcohol consumption, malnutrition, and associated vitamin D deficiency which might have contributed to the severity of MBD. Conclusion: Severe metabolic disease as the only presentation of CD is rare. Patients show significant improvement in clinical, biochemical, and radiological parameters with gluten-free diet, calcium, and vitamin D supplementation. CD should be looked for routinely in patients presenting with unexplained MBD.

Significance and challenges of stereoselectivity assessing methods in drug metabolism

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Zhuowei Shen

2016-02-01

Full Text Available Stereoselectivity in drug metabolism can not only influence the pharmacological activities, tolerability, safety, and bioavailability of drugs directly, but also cause different kinds of drug–drug interactions. Thus, assessing stereoselectivity in drug metabolism is of great significance for pharmaceutical research and development (R&D and rational use in clinic. Although there are various methods available for assessing stereoselectivity in drug metabolism, many of them have shortcomings. The indirect method of chromatographic methods can only be applicable to specific samples with functional groups to be derivatized or form complex with a chiral selector, while the direct method achieved by chiral stationary phases (CSPs is expensive. As a detector of chromatographic methods, mass spectrometry (MS is highly sensitive and specific, whereas the matrix interference is still a challenge to overcome. In addition, the use of nuclear magnetic resonance (NMR and immunoassay in chiral analysis are worth noting. This review presents several typical examples of drug stereoselective metabolism and provides a literature-based evaluation on current chiral analytical techniques to show the significance and challenges of stereoselectivity assessing methods in drug metabolism.

Ruptured Abdominal Aortic Aneurysm: Prediction of Mortality From Clinical Presentation and Glasgow Aneurysm Score.

Science.gov (United States)

Weingarten, Toby N; Thompson, Lauren T; Licatino, Lauren K; Bailey, Christopher H; Schroeder, Darrell R; Sprung, Juraj

2016-04-01

To examine association of presenting clinical acuity and Glasgow Aneurysm Score (GAS) with perioperative and 1-year mortality. Retrospective chart review. Major tertiary care facility. Patients with ruptured abdominal aortic aneurysm (rAAA) from 2003 through 2013. Emergency repair of rAAA. The authors reviewed outcomes after stable versus unstable presentation and by GAS. Unstable presentation included hypotension, cardiac arrest, loss of consciousness, and preoperative tracheal intubation. In total, 125 patients (40 stable) underwent repair. Perioperative mortality rates were 41% and 12% in unstable and stable patients, respectively (pClinical presentation and GAS identified patients with rAAA who were likely to have a poor surgical outcome. GAS≥96 was associated with poor long-term survival, but>20% of these patients survived 1 year. Thus, neither clinical presentation nor GAS provided reliable guidance for decisions regarding futility of surgery. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical presentation and biochemical profile of horses during induction and treatment of hypocalcemia

OpenAIRE

Barrêto-Júnior, Raimundo A.; Minervino, Antonio H.; Rodrigues, Federico A.; Meira Júnior, Enoch B.; Lima, Alessandra; Sousa, Rejane; Mori, Clara; Araújo, Carolina A.; R.Fernandes, Wilson; Ortolani, Enrico

2017-01-01

ABSTRACT: The aim of this study was to examine the clinical presentation, biochemical profile and response to treatment among horses with experimentally-induced hypocalcemia. Twelve adult, mixed breed mares were used. A 5% ethylenediaminetetraacetic acid disodium (Na2EDTA) solution was infused into all the mares until the animals presented clinical signs of hypocalcemia, at which point they were divided into a control group (n = 5) and a treatment group (n = 7). The treated group received an ...

STUDY OF CLINICAL PRESENTATIONS OF PATIENTS WITH HYPERPROLACTINAEMIA VISITING A TERTIARY CARE HOSPITAL

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Binoy Kumar Mohanty

2016-06-01

Full Text Available BACKGROUND Hyperprolactinaemia is one of the common endocrine disorders seen in clinical practice. It may result due to various causes and elucidating the exact cause is necessary to formulate the right therapy. OBJECTIVE To study the various aetiologies and clinical presentation of patients presenting with hyperprolactinaemia to a tertiary care hospital. DESIGN Cross-sectional study. MATERIAL AND METHODS We collected and analysed the clinical data including hormonal status of 74 consecutive patients who presented to our department from June 2015 to May 2016 for evaluation of hyperprolactinaemia. RESULTS Majority of the subjects studied belonged to 20-29 years group (47.29% followed by 30-39 years age group (24.32%. The most common cause in our population was due to drug-induced causes (35.13%. The next common causes included idiopathic group (20.4% followed by pituitary adenomas (16.21%. There was significant female predominance (83.78% among total cases. Among women who presented with hyperprolactinaemia, menstrual irregularity (69.35% followed by galactorrhoea (35.48% were the most common presentations. CONCLUSIONS Hyperprolactinaemia is frequently seen among women who presented with either menstrual irregularity or galactorrhoea or both. Drug-induced hyperprolactinaemia is the most common cause seen in our study population.

[Clinical-diagnostic estimation of carbohydrates metabolism in obturation jaundice].

Science.gov (United States)

Nychytaĭlo, M Iu; Malyk, S V

2004-07-01

Complex examination of 175 patients with obturation jaundice was conducted, peculiar attention was spared to the carbohydrates metabolism changes, characterizing hepatic state. It was established, that in obturation jaundice in the liver there are occurring inflammatory changes and disturbances of all kinds of metabolism, including that of carbohydrates, severity of which depends on duration of jaundice, the concurrent diseases presence, they shows lowering of the glucose and glycogen level in the blood, as well as the hepatic glycogen content, that's why they may be applied as a complex of prognostic criterions for the disease course. An early conduction of operative treatment, elimination of the biliary ducts impassability promote the rehabilitation period shortening and the hepatic functional activity normalization.

Non-clinical studies in the process of new drug development - Part II: Good laboratory practice, metabolism, pharmacokinetics, safety and dose translation to clinical studies.

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Andrade, E L; Bento, A F; Cavalli, J; Oliveira, S K; Schwanke, R C; Siqueira, J M; Freitas, C S; Marcon, R; Calixto, J B

2016-12-12

The process of drug development involves non-clinical and clinical studies. Non-clinical studies are conducted using different protocols including animal studies, which mostly follow the Good Laboratory Practice (GLP) regulations. During the early pre-clinical development process, also known as Go/No-Go decision, a drug candidate needs to pass through several steps, such as determination of drug availability (studies on pharmacokinetics), absorption, distribution, metabolism and elimination (ADME) and preliminary studies that aim to investigate the candidate safety including genotoxicity, mutagenicity, safety pharmacology and general toxicology. These preliminary studies generally do not need to comply with GLP regulations. These studies aim at investigating the drug safety to obtain the first information about its tolerability in different systems that are relevant for further decisions. There are, however, other studies that should be performed according to GLP standards and are mandatory for the safe exposure to humans, such as repeated dose toxicity, genotoxicity and safety pharmacology. These studies must be conducted before the Investigational New Drug (IND) application. The package of non-clinical studies should cover all information needed for the safe transposition of drugs from animals to humans, generally based on the non-observed adverse effect level (NOAEL) obtained from general toxicity studies. After IND approval, other GLP experiments for the evaluation of chronic toxicity, reproductive and developmental toxicity, carcinogenicity and genotoxicity, are carried out during the clinical phase of development. However, the necessity of performing such studies depends on the new drug clinical application purpose.

Peripheral T-cell lymphoma with unusual clinical presentation of rhabdomyolysis.

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Liu, Zhiyu; Medeiros, L Jeffrey; Young, Ken H

2017-03-01

Primary extranodal lymphoma is known to occur in nose, gastrointestinal tract, skin, bone, and central nervous system. However, it is extremely rare for primary lymphoma to arise in skeletal muscle. We report a case of a 32-year-old man who presented initially with fever and fatigue. He had a history of alcohol abuse. Laboratory studies and computerized tomography scan showed results consistent with rhabdomyolysis, but the cause of the rhabdomyolysis was undetermined. After biopsy of abdominal skeletal muscle with histologic examination and T-cell receptor gamma chain gene rearrangement analysis, the diagnosis of peripheral T-cell lymphoma was established. After two cycles of the cyclophosphamide, doxorubicin, vincristine, prednisone, and etoposide regimen, the patient's symptoms greatly improved. This is the third reported case of peripheral T-cell lymphoma arising in skeletal muscle reported in the literature and which presented clinically with rhabdomyolysis. The alcohol abuse during the clinical course likely worsens the pathologic process of the rhabdomyolysis. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

Clinical features of autoimmune hepatitis with acute presentation: a Japanese nationwide survey.

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Joshita, Satoru; Yoshizawa, Kaname; Umemura, Takeji; Ohira, Hiromasa; Takahashi, Atsushi; Harada, Kenichi; Hiep, Nguyen Canh; Tsuneyama, Koichi; Kage, Masayoshi; Nakano, Masayuki; Kang, Jong-Hon; Koike, Kazuhiko; Zeniya, Mikio; Yasunaka, Tetsuya; Takaki, Akinobu; Torimura, Takuji; Abe, Masanori; Yokosuka, Osamu; Tanaka, Atsushi; Takikawa, Hajime

2018-02-23

Autoimmune hepatitis (AIH) is characterized by progressive inflammation and necrosis of hepatocytes and eventually leads to a variety of phenotypes, including acute liver dysfunction, chronic progressive liver disease, and fulminant hepatic failure. Although the precise mechanisms of AIH are unknown, environmental factors may trigger disease onset in genetically predisposed individuals. Patients with the recently established entity of AIH with acute presentation often display atypical clinical features that mimic those of acute hepatitis forms even though AIH is categorized as a chronic liver disease. The aim of this study was to identify the precise clinical features of AIH with acute presentation. Eighty-six AIH patients with acute presentation were retrospectively enrolled from facilities across Japan and analyzed for clinical features, histopathological findings, and disease outcomes. Seventy-five patients were female and 11 were male. Patient age ranged from adolescent to over 80 years old, with a median age of 55 years. Median alanine transaminase (ALT) was 776 U/L and median immunoglobulin G (IgG) was 1671 mg/dL. There were no significant differences between genders in terms of ALT (P = 0.27) or IgG (P = 0.51). The number of patients without and with histopathological fibrosis was 29 and 57, respectively. The patients with fibrosis were significantly older than those without (P = 0.015), but no other differences in clinical or histopathological findings were observed. Moreover, antinuclear antibody (ANA)-positive (defined as × 40, N = 63) and -negative (N = 23) patients showed no significant differences in clinical or histopathological findings or disease outcomes. Twenty-five patients experienced disease relapse and two patients died during the study period. ALP ≥ 500 U/L [odds ratio (OR) 3.20; 95% confidence interval (CI) 1.12-9.10; P presentation is a newly recognized disease entity for which diagnostic hallmarks, such as ALT

Lead intoxication: a summary of the clinical presentation among Thai patients.

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Wiwanitkit, Viroj; Suwansaksri, Jamsai

2006-08-01

Lead is an important toxic metal found in industrial communities. Due to the industrialization in the recent decade in Thailand, lead intoxication as a toxicant-related disorder becomes a new public health problem. A retrospective study on clinical presentation of hospitalized patients with diagnosis of lead intoxication during year 1990-1999 in King Chulalongkorn Memorial hospital, the largest Thai Red Cross Society Hospital, was performed. All 14 cases diagnosed with lead intoxication were identified in our series. Average age of the subjects was 25.55 +/- 21.93 years old. Male predominance was detected in our series (male:female = 12:2). Two main groups of subjects as; (1) childhood aged below 10 years old (male:female = 4:2) and (2) adult aged between 24 and 60 years old (n = 8, all male), can be identified. For the first group, the clinical presentations were convulsion (n = 3), unexplained anemia (n = 1), attention deficit (n = 1) and asymptomatic (n = 1), respectively. All of the subjects in this group presented the history of living at the old battery plant area. Five of the six cases came from the same village. For the second group, the clinical presentations were unexplained abdominal pain (n = 5), chronic renal failure (n = 1), unexplained anemia (n = 1) and asymptomatic (n = 1), respectively. Most of the subjects (75%) in this group presented the history of working in the battery plant for more than 10 years. Another case presented the history of gunshot and residual bullet in the bone marrow. The other one left is an interesting case with the history of prolonged usage of ritual pill and holy paper incineration. Like other studies, battery plant had strong relation with the lead intoxication. Although the total identified cases are rather few, there may be more undetected asymptomatic lead intoxication cases in the community. Specific control of lead resulted from battery plant and monitoring of the workers as public health strategies are still

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

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Peeks, Fabian; Steunenberg, Thomas A H; de Boer, Foekje; Rubio-Gozalbo, M Estela; Williams, Monique; Burghard, Rob; Rajas, Fabienne; Oosterveer, Maaike H; Weinstein, David A; Derks, Terry G J

2017-09-01

To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes. To display subtle variations for repeated triglyceride measurements with respect to time for individual patients, CUSUM-analysis graphs were constructed. Patients with different homozygous G6PC mutations showed important differences in height, BMI, and biochemical parameters (i.e., lactate, uric acid, triglyceride, and cholesterol concentrations). Furthermore, CUSUM-analysis predicts and displays subtle changes in longitudinal blood triglyceride concentrations. Siblings in families also displayed important differences in biochemical parameters (i.e., lactate, uric acid, triglycerides, and cholesterol concentrations) and long-term complications (i.e., liver adenomas, nephropathy, and osteopenia/osteoporosis). Differences between GSD Ia patients reflect large clinical and biochemical heterogeneity. Heterogeneity between GSD Ia patients with homozygous G6PC mutations indicate an important role of the G6PC genotype/mutations. Differences between affected siblings suggest an additional role (genetic and/or environmental) of modifying factors defining the GSD Ia phenotype. CUSUM-analysis can facilitate single-patient monitoring of metabolic control and future application of this method may improve precision medicine for patients both with GSD and remaining inherited metabolic diseases.

Acute Appendicitis as the Initial Clinical Presentation of Primary HIV-1 Infection

DEFF Research Database (Denmark)

Schleimann, Mariane H; Leth, Steffen; Krarup, Astrid R

2018-01-01

We report a case of an adolescent who presented at our emergency department with acute abdominal pain. While the initial diagnosis was acute appendicitis, a secondary and coincidental diagnosis of primary HIV-1 infection was made. Concurrent and subsequent clinical and molecular biology findings ...... form the basis of our argument that primary HIV-1 infection was the cause of acute appendicitis in this individual.......We report a case of an adolescent who presented at our emergency department with acute abdominal pain. While the initial diagnosis was acute appendicitis, a secondary and coincidental diagnosis of primary HIV-1 infection was made. Concurrent and subsequent clinical and molecular biology findings...

Intrinsic and Antipsychotic Drug-Induced Metabolic Dysfunction in Schizophrenia

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Zachary Freyberg

2017-07-01

Full Text Available For decades, there have been observations demonstrating significant metabolic disturbances in people with schizophrenia including clinically relevant weight gain, hypertension, and disturbances in glucose and lipid homeostasis. Many of these findings pre-date the use of antipsychotic drugs (APDs which on their own are also strongly associated with metabolic side effects. The combination of APD-induced metabolic changes and common adverse environmental factors associated with schizophrenia have made it difficult to determine the specific contributions of each to the overall metabolic picture. Data from drug-naïve patients, both from the pre-APD era and more recently, suggest that there may be an intrinsic metabolic risk associated with schizophrenia. Nevertheless, these findings remain controversial due to significant clinical variability in both psychiatric and metabolic symptoms throughout patients' disease courses. Here, we provide an extensive review of classic and more recent literature describing the metabolic phenotype associated with schizophrenia. We also suggest potential mechanistic links between signaling pathways associated with schizophrenia and metabolic dysfunction. We propose that, beyond its symptomatology in the central nervous system, schizophrenia is also characterized by pathophysiology in other organ systems directly related to metabolic control.

Hydatidiform mole: age-related clinical presentation and high rate of severe complications in older women.

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Mangili, Giorgia; Giorgione, Veronica; Gentile, Cinzia; Bergamini, Alice; Pella, Francesca; Almirante, Giada; Candiani, Massimo

2014-05-01

The purpose of this study was to demonstrate differences in clinical presentation of hydatidiform mole between women ≥40 years and younger women. Retrospective study. A tertiary referral unit in northern Italy. Three hundred and sixty-five women with hydatidiform mole were divided into group A (Clinical presentation between groups A and B was analyzed, also considering partial hydatidiform mole and complete hydatidiform mole. Differences in clinical presentation according to woman's age. In group B the diagnosis of hydatidiform mole at ≥12 gestational weeks was more frequent (p presented with vaginal bleeding (p clinical features of hydatidiform mole in women ≥40 years are different from those seen in younger women. Failures in the early detection of hydatidiform mole in older women may expose them to a higher rate of severe complications. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

Clinical and metabolic effects associated with weight changes and obeticholic acid in non-alcoholic steatohepatitis.

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Hameed, B; Terrault, N A; Gill, R M; Loomba, R; Chalasani, N; Hoofnagle, J H; Van Natta, M L

2018-03-01

In a 72-week, randomised controlled trial of obeticholic acid (OCA) in non-alcoholic steatohepatitis (NASH), OCA was superior to placebo in improving serum ALT levels and liver histology. OCA therapy also reduced weight. Because weight loss by itself can improve histology, to perform a post hoc analysis of the effects of weight loss and OCA treatment in improving clinical and metabolic features of NASH. The analysis was limited to the 200 patients with baseline and end-of-treatment liver biopsies. Weight loss was defined as a relative decline from baseline of 2% or more at treatment end. Weight loss occurred in 44% (45/102) of OCA and 32% (31/98) of placebo-treated patients (P = 0.08). The NAFLD Activity score (NAS) improved more in those with than without weight loss in both the OCA- (-2.4 vs -1.2, POCA- (-43 vs -34 U/L, P = 0.12) and placebo-treated patients (-29 vs -10 U/L, P = 0.02). However, among those who lost weight, OCA was associated with opposite effects from placebo on changes in alkaline phosphatase (+21 vs -12 U/L, POCA leads to weight loss in up to 44% of patients with NASH, and OCA therapy and weight loss have additive benefits on serum aminotransferases and histology. However, favourable effects of weight loss on alkaline phosphatase, lipids and blood glucose seen in placebo-treated patients were absent or reversed on OCA treatment. These findings stress the importance of assessing concomitant metabolic effects of new therapies of NASH. Clinical trial number: NCT01265498. © 2018 John Wiley & Sons Ltd.

Clinical and Metabolic Characterization of Lean Caucasian Subjects With Non-alcoholic Fatty Liver.

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Feldman, Alexandra; Eder, Sebastian K; Felder, Thomas K; Kedenko, Lyudmyla; Paulweber, Bernhard; Stadlmayr, Andreas; Huber-Schönauer, Ursula; Niederseer, David; Stickel, Felix; Auer, Simon; Haschke-Becher, Elisabeth; Patsch, Wolfgang; Datz, Christian; Aigner, Elmar

2017-01-01

Non-alcoholic fatty liver disease (NAFLD) is closely linked to obesity; however, 5-8% of lean subjects also have evidence of NAFLD. We aimed to investigate clinical, genetic, metabolic and lifestyle characteristics in lean Caucasian subjects with NAFLD. Data from 187 subjects allocated to one of the three groups according to body mass index (BMI) and hepatic steatosis on ultrasound were obtained: lean healthy (BMI≤25 kg/m 2 , no steatosis, N=71), lean NAFLD (BMI≤25 kg/m 2 , steatosis, N=55), obese NAFLD (BMI≥30 kg/m 2 , steatosis; N=61). All subjects received a detailed clinical and laboratory examination including oral glucose tolerance test. The serum metabolome was assessed using the Metabolomics AbsoluteIDQ p180 kit (BIOCRATES Life Sciences). Genotyping for single-nucleotide polymorphisms (SNPs) associated with NAFLD was performed. Lean NAFLD subjects had fasting insulin concentrations similar to lean healthy subjects but had markedly impaired glucose tolerance. Lean NAFLD subjects had a higher rate of the mutant PNPLA3 CG/GG variant compared to lean controls (P=0.007). Serum adiponectin concentrations were decreased in both NAFLD groups compared to controls (Pphosphatidylcholines (PCaa C36:3; false discovery rate (FDR)-corrected P-value<0.001) as well as lysine, tyrosine, and valine (FDR<0.001). Lean subjects with evidence of NAFLD have clinically relevant impaired glucose tolerance, low adiponectin concentrations and a distinct metabolite profile with an increased rate of PNPLA3 risk allele carriage.

The Clinical Features of Paediatric HIV/AIDS at Presentation at the ...

African Journals Online (AJOL)

AIDS in African setting was found to be sensitive with low specificity and positive predictive value (PPV). Conclusion: Clinical presentation of paediatric HIV/AIDS appears similar with reports from other centers in spite of the wide variation in ...

Clinical spectrum of rhabdomyolysis presented to pediatric emergency department

Science.gov (United States)

2013-01-01

Background Rhabdomyolysis is a potentially life-threatening syndrome that can develop from a variety of causes. The aim of the work is to analyze the clinical spectrum and to evaluate the prevalence of various etiologies in children, who present to the emergency department (ED) with rhabdomyolysis. Methods During a 6-year study period, we retrospectively analyzed the medical charts of patients, aged 18 years or younger, with a definite diagnosis of rhabdomyolysis and serum creatinine phosphokinase (CK) levels greater than 1000IU/L. We analyzed the clinical spectrum and evaluated the potential risk factors of acute renal failure (ARF). Results Thirty-seven patients (mean age = 10.2 ± 5.5 years), including 26 males and 11 females, were enrolled in the study. Two of the most common presented symptoms in these 37 patients were muscle pain and muscle weakness (83.8% and 73%, respectively). Dark urine was reported in only 5.4% of the patients. The leading cause of rhabdomyolysis in the 0- to 9-year age group was presumed infection, and the leading cause in the 10- to 18-year age group was trauma and exercise. The incidence of ARF associated with rhabdomyolysis was 8.1 % and no child needed for renal replacement therapy (RRT). We did not identify any reliable predictors of ARF or need for RRT. Conclusions The classic triad of symptoms of rhabdomyolysis includes myalgia, weakness and dark urine are not always presented in children. The cause of rhabdomyolysis in younger age is different from that of teenager group. However, the prognosis of rhabdomyolysis was good with appropriate management. PMID:24004920

Sinusitis and intracranial sepsis: the CT imaging and clinical presentation

International Nuclear Information System (INIS)

Saxton, V.J.; Boldt, D.W.; Shield, L.K.

1995-01-01

The CT imaging and clinical presentation in 14 children with coexistent intracranial sepsis and sinusitis were reviewed. A routine CT head scan (10-mm thick semi-axial slices through the cranium done before and after intravenous contrast medium administration) was found to be an inadequate initial investigation as the intracranial collection was missed in four patients and the abnormal sinuses not shown in six. In half the children the dagnosis of sinusitis was unsuspected at the time of admission. The dominant clinical features were fever, intense headache and facial swelling in early adolescent males. In this clinical setting we recommend: (1) The routine scan is extended through the frontal and ethmoidal sinuses and photographed at a window level and width showing both bone detail and air/soft tissue interfaces; (2) direct coronal projections are performed through the anterior cranial fossa if no collection is seen on the routine study; (3) an early repeat scan within 48 h if the initial study shows no intracranial pathology but the fronto-ethomoidal sinuses are abnormal and there is a high clinical supicion of intracranial sepsis; and (4) in the presence of intracranial sepsis the vault is viewed at bone window settings to exclude cranial osteomyelitis. (orig.)

[Adipocytokines and metabolic syndrome--molecular mechanism and clinical implication].

Science.gov (United States)

Matsuda, Morihiro; Shimomura, Iichiro

2004-06-01

Recent progress in adipocyte-biology shows that adipocytes are not merely fat-storing cells but that they secrete a variety of hormones, cytekines, growth factors and other bioactive substabces, conceptualized as adipocytokines. These include plasminogen activator inhibitor 1(PAI-1), tumor necrosis factor(TNF-alpha), leptin and adiponectin. Dysregulated productions of these adipocytekines participate in the pathogenesis of obesity-associated metabolic syndrome such as insulin resistance, type 2 diabetes, hyperlipidemia, and vascular diseases. Increased productions of PAI-1 and TNF-alpha from accumulated fat contribute to the formation of thrombosis and insulin resistance in obesity, respectively. Lack of leptin causes metabolic syndrome. Adiponectin exerts insulin-sensitizing and anti-atherogenic effects, hence decrease of plasma adiponectin is causative for insulin resistance and atherosclerosis in obesity.

Accessing Autonomic Function Can Early Screen Metabolic Syndrome

Science.gov (United States)

Dai, Meng; Li, Mian; Yang, Zhi; Xu, Min; Xu, Yu; Lu, Jieli; Chen, Yuhong; Liu, Jianmin; Ning, Guang; Bi, Yufang

2012-01-01

Background Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. Methodology and Principal Findings The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend metabolic syndrome components (p for trend metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61–0.64) for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. Conclusions and Significance In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome. PMID:22916265

Risk factors of diabetes in North Indians with metabolic syndrome.

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Pratyush, Daliparthy D; Tiwari, Shalbha; Singh, Saurabh; Singh, Surya K

2016-01-01

Metabolic syndrome progresses to diabetes and determinants of this progression like hyperinsulinemia, hypertriglyceridemia and genetic factors have been speculative. The present study was aimed at quantifying the insulin resistance and influence of family history of diabetes in subjects with metabolic syndrome developing prediabetes and diabetes. Consecutive subjects attending the endocrine clinic were evaluated for metabolic syndrome as per definition of International Diabetes Federation, 2005. The family history of diabetes in their first degree relatives was ascertained and Homeostasis model assessment of Insulin resistance (HOMA-IR), Homeostasis model assessment for beta cell function (HOMA-B) and Quantitative insulin sensitivity check index (QUICKI) were calculated in 163 subjects enrolled. HOMA-IR was higher (pmetabolic syndrome+prediabetes or diabetes compared to metabolic syndrome with normal glucose tolerance. HOMA-B was lower and prevalence of prediabetes and diabetes was higher in metabolic syndrome subjects with family history of diabetes than in those without such family history (pmetabolic syndrome having prediabetes and diabetes had more severe insulin resistance than those with metabolic syndrome only. Beta cell dysfunction was remarkable and prevalence of prediabetes was high in metabolic syndrome subjects with family history of diabetes. Both the severity of the insulin resistance and family history of diabetes are therefore proposed to be determinants of diminished Beta cell function leading to diabetes in metabolic syndrome. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Practice Patterns in Screening for Metabolic Disease in Women with PCOS of Diverse Race-Ethnic Backgrounds.

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Mott, Melanie M; Kitos, Nicole R; Coviello, Andrea D

2014-09-01

Women with polycystic ovary syndrome (PCOS) are at high risk for metabolic disorders, which prompted the American Association of Clinical Endocrinologists (AACE) to publish a 2005 position statement recommending screening for metabolic disease.The purposes of the present study were to 1) to examine changes in screening rates for obesity, type 2 diabetes (T2D), metabolic syndrome (MetS), hyperlipidemia (HL), nonalcoholic fatty liver disease (NAFLD), and hypertension (HTN) in women with PCOS after publication of the 2005 AACE position statement and 2) to determine if screening rates and metabolic disorders vary by race-ethnicity. PCOS cases in 2006 (n = 547) and 2011 (n = 1,159) and metabolic disorders were identified by International Classification of Diseases, 9th revision (ICD9) code. Screening rates for metabolic disorders were determined by the presence of blood tests (hemoglobin A1c [HbA1c], lipid profile, alanine aminotransferase/aspartate aminotransferase [ALT/AST]). In 2006, ≤25% of PCOS patients underwent recommended screening tests: HbA1c 18%; lipid profile 11, only HbA1c testing had increased (18% to 21%). Obesity increased from 35% to 40%, while other metabolic disorders remained stable. Black women had the highest rates of obesity and HTN in 2011 (Obesity: Black 48%, Hispanic 44%, White 33%, Other 31%, P1; HTN: Black 18%, Hispanic 9%, White 10%, Other 7%, P1). Blacks and Hispanics were screened more often with ALT/AST testing (Black 27/27%, Hispanic 28/27%, White 23/22%, Other 17/18%, P = .02/.03). Screening rates were higher in the endocrine clinic for all metabolic disorders than in other clinics (P11.

Beyond the CRAB symptoms: a study of presenting clinical manifestations of multiple myeloma.

Science.gov (United States)

Talamo, Giampaolo; Farooq, Umar; Zangari, Maurizio; Liao, Jason; Dolloff, Nathan G; Loughran, Thomas P; Epner, Elliot

2010-12-01

Although the typical clinical manifestations of multiple myeloma (MM) are summarized by the CRAB symptoms (hypercalcemia, renal insufficiency, anemia, and bone lesions), a significant proportion of patients with MM present with a variety of other clinical manifestations. We conducted a study evaluating the presenting symptoms that led to the diagnosis of MM. We conducted a retrospective review of 170 consecutive patients with MM seen at the Penn State Hershey Cancer Institute. Among patients with symptomatic MM, 74% presented with CRAB symptoms, 20% presented with non-CRAB manifestations, and 6% had both clinical features. Ten categories of non-CRAB manifestations were found, in order of decreasing frequency: neuropathy (because of spinal cord compression, nerve root compression, or peripheral neuropathy), extramedullary involvement, hyperviscosity syndrome, concomitant amyloidosis (eg, nephrotic syndrome or cardiopathy), hemorrhage/coagulopathy, systemic symptoms (eg, fever or weight loss), primary plasma cell leukemia, infections, cryoglobulinemia, and secondary gout. Kaplan-Meier estimates of survival in patients with non-CRAB manifestations did not show a significant difference from the survival of patients presenting with CRAB symptoms. Presenting symptoms of MM may be grouped in a total of 14 categories, 4 for the CRAB and 10 for the less common non-CRAB features. Grouped together, non-CRAB manifestations do not appear to confer a negative effect on the prognosis of patients with MM.

Emerging souvenirs-clinical presentation of the returning traveller with imported arbovirus infections in Europe.

Science.gov (United States)

Eckerle, I; Briciu, V T; Ergönül, Ö; Lupşe, M; Papa, A; Radulescu, A; Tsiodras, S; Tsitou, C; Drosten, C; Nussenblatt, V R; Reusken, C B; Sigfrid, L A; Beeching, N J

2018-03-01

Arboviruses are an emerging group of viruses that are causing increasing health concerns globally, including in Europe. Clinical presentation usually consists of a nonspecific febrile illness that may be accompanied by rash, arthralgia and arthritis, with or without neurological or haemorrhagic syndromes. The range of differential diagnoses of other infectious and noninfectious aetiologies is broad, presenting a challenge for physicians. While knowledge of the geographical distribution of pathogens and the current epidemiological situation, incubation periods, exposure risk factors and vaccination history can help guide the diagnostic approach, the nonspecific and variable clinical presentation can delay final diagnosis. This narrative review aims to summarize the main clinical and laboratory-based findings of the three most common imported arboviruses in Europe. Evidence is extracted from published literature and clinical expertise of European arbovirus experts. We present three cases that highlight similarities and differences between some of the most common travel-related arboviruses imported to Europe. These include a patient with chikungunya virus infection presenting in Greece, a case of dengue fever in Turkey and a travel-related case of Zika virus infection in Romania. Early diagnosis of travel-imported cases is important to reduce the risk of localized outbreaks of tropical arboviruses such as dengue and chikungunya and the risk of local transmission from body fluids or vertical transmission. Given the global relevance of arboviruses and the continuous risk of (re)emerging arbovirus events, clinicians should be aware of the clinical syndromes of arbovirus fevers and the potential pitfalls in diagnosis. Copyright © 2018. Published by Elsevier Ltd.

The Metabolic Syndrome, Oxidative Stress, Environment, and Cardiovascular Disease: The Great Exploration

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Hutcheson, Rebecca; Rocic, Petra

2012-01-01

The metabolic syndrome affects 30% of the US population with increasing prevalence. In this paper, we explore the relationship between the metabolic syndrome and the incidence and severity of cardiovascular disease in general and coronary artery disease (CAD) in particular. Furthermore, we look at the impact of metabolic syndrome on outcomes of coronary revascularization therapies including CABG, PTCA, and coronary collateral development. We also examine the association between the metabolic syndrome and its individual component pathologies and oxidative stress. Related, we explore the interaction between the main external sources of oxidative stress, cigarette smoke and air pollution, and metabolic syndrome and the effect of this interaction on CAD. We discuss the apparent lack of positive effect of antioxidants on cardiovascular outcomes in large clinical trials with emphasis on some of the limitations of these trials. Finally, we present evidence for successful use of antioxidant properties of pharmacological agents, including metformin, statins, angiotensin II type I receptor blockers (ARBs), and angiotensin II converting enzyme (ACE) inhibitors, for prevention and treatment of the cardiovascular complications of the metabolic syndrome. PMID:22829804

The Metabolic Syndrome, Oxidative Stress, Environment, and Cardiovascular Disease: The Great Exploration

Directory of Open Access Journals (Sweden)

Rebecca Hutcheson

2012-01-01

Full Text Available The metabolic syndrome affects 30% of the US population with increasing prevalence. In this paper, we explore the relationship between the metabolic syndrome and the incidence and severity of cardiovascular disease in general and coronary artery disease (CAD in particular. Furthermore, we look at the impact of metabolic syndrome on outcomes of coronary revascularization therapies including CABG, PTCA, and coronary collateral development. We also examine the association between the metabolic syndrome and its individual component pathologies and oxidative stress. Related, we explore the interaction between the main external sources of oxidative stress, cigarette smoke and air pollution, and metabolic syndrome and the effect of this interaction on CAD. We discuss the apparent lack of positive effect of antioxidants on cardiovascular outcomes in large clinical trials with emphasis on some of the limitations of these trials. Finally, we present evidence for successful use of antioxidant properties of pharmacological agents, including metformin, statins, angiotensin II type I receptor blockers (ARBs, and angiotensin II converting enzyme (ACE inhibitors, for prevention and treatment of the cardiovascular complications of the metabolic syndrome.

Feline asthma syndrome: a retrospective study of the clinical presentation in 29 cats

International Nuclear Information System (INIS)

Corcoran, B.M.; Foster, D.J.; Fuentes, V.L.

1995-01-01

Feline asthma syndrome (FAS) is a clinical condition characterised by recurrent bouts of coughing, wheezing and, or, dyspnoea. While the aetiology is unproven, the condition is believed to involve a type I immediate hypersensitivity reaction to inhaled allergens. In this paper the clinical data from 29 cats, where a diagnosis of FAS was made, are assessed retrospectively. The most common clinical presentation was recurrent bouts of coughing (n = 26) and dyspnoea (n = 21). Radiographic changes were noted in 24 cats, which included increased bronchial (n = 5), interstitial (n = 7) and mixed (n = 12) (bronchial and interstitial) patterns. Right middle lung lobe collapse was noted in two cats. Abnormal bronchial cytology was present in 16 cats. A predominant eosinophilic sample was collected in only three cats. There were minimal changes in differential white cell counts, and mild eosinophilia was found in only five cats. Prednisolone alone was the most effective therapy, although avoidance of putative aeroallergens and antibacterial therapy was effective in some. On the basis of the data from these cases it would appear that the diagnosis of FAS depends largely on the clinical presentation and radiographic findings. The value of ancillary tests in the diagnosis of FAS appears to be limited

Variables influencing presenting symptoms of patients with eating disorders at psychiatric outpatient clinics.

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Tseng, Mei-Chih Meg; Chen, Kuan-Yu; Chang, Chin-Hao; Liao, Shih-Cheng; Chen, Hsi-Chung

2016-04-30

Eating disorders (EDs) have been underdiagnosed in many clinical settings. This study investigates the influence of clinical characteristics on presenting symptoms of patients with EDs. Psychiatric outpatients, aged 18-45, were enrolled sequentially and received a two-phase survey for EDs in August 2010-January 2013. Their primary reasons for seeking psychiatric help were obtained at their first encounter with outpatient psychiatrists. Patients' clinical and demographic characteristics were compared according to presenting symptoms with or without eating/weight problems. Of 2140 patients, 348 (16.3%) were diagnosed with an ED (22.6% of women and 6.3% of men). The three most common reasons for seeking psychiatric help were eating/weight problems (46.0%), emotional problems (41.3%), and sleep disturbances (19.3%). The multivariate analyses suggest that when patients with EDs presented symptoms that were less related to eating/weight problems, they were significantly more likely to be those having diagnoses other than anorexia nervosa or bulimia nervosa and less severe degree of binge-eating. Further, patients with EDs who demonstrated more impulsive behaviors and poorer functioning were less likely to report their eating problems when visiting psychiatric clinics. Thus, ED should be assessed routinely in patients with complex psychopathology to facilitate comprehensive treatment. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Atrial Septal Aneurysm Presenting as Clubbing without Clinically Apparent Cyanosis.

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Goyal, Laxmi Kant; Banerjee, S; Yadav, R N; Singh, Gajraj; Ganguli, Sujata; Isran, Rohit

2015-09-01

Atrial septal aneurysm (ASA) is a localised "saccular" deformity which protrudes to the right or the left atrium or on both sides. It is a rare, but well recognised cardiac abnormality. It is usually an incidental finding or may presents as atrial arrhythmias or arterial embolism. Though it is an acyanotic congenital heart disease but it may result in significant right to left shunt and cyanosis. We describe a patient of ASA with atrial septal defect who presented with clubbing and right to left shunt without clinically apparent cyanosis. © Journal of the Association of Physicians of India 2011.

Extra-intestinal amebiasis: clinical presentation in a non-endemic setting

DEFF Research Database (Denmark)

Thorsen, S; Rønne-Rasmussen, J; Petersen, E

1993-01-01

37/38 patients with reciprocal titers > or = 512 against Entamoeba histolytica in Denmark over a 5-year period were evaluated retrospectively in order to establish the clinical profile of extra-intestinal amebiasis in a non-endemic area. 24 of these had extra-intestinal amebiasis, all presenting 1...... or more amebic liver abscesses on ultrasonography. Fever was the most common finding, present in 91% of the cases. The most striking observation was the lack of both abdominal pain and tenderness in 22% of the patients with liver abscess. Pulmonary symptoms and abnormal chest X-rays were each recorded...

Leishmania isoenzyme polymorphisms in Ecuador: Relationships with geographic distribution and clinical presentation

Science.gov (United States)

Calvopina, Manuel; Armijos, Rodrigo X; Marco, Jorge D; Uezato, Hiroshi; Kato, Hirotomo; Gomez, Eduardo A; Korenaga, Masataka; Barroso, Paola A; Mimori, Tatsuyuki; Cooper, Philip J; Nonaka, Shigeo; Hashiguchi, Yoshihisa

2006-01-01

Background Determinants of the clinical presentation of the leishmaniases are poorly understood but Leishmania species and strain differences are important. To examine the relationship between clinical presentation, species and isoenzyme polymorphisms, 56 Leishmania isolates from distinct presentations of American tegumentary leishmaniasis (ATL) from Ecuador were analyzed. Methods Isolates were characterized by multilocus enzyme electrophoresis for polymorphisms of 11 isoenzymes. Patients were infected in four different ecologic regions: highland and lowland jungle of the Pacific coast, Amazonian lowlands and Andean highlands. Results Six Leishmania species constituting 21 zymodemes were identified: L. (Viannia) panamensis (21 isolates, 7 zymodemes), L. (V.) guyanensis (7 isolates, 4 zymodemes), L. (V.) braziliensis (5 isolates, 3 zymodemes), L. (Leishmania) mexicana (11 isolates, 4 zymodemes), L. (L.) amazonensis (10 isolates, 2 zymodemes) and L. (L.) major (2 isolates, 1 zymodeme). L. panamensis was the species most frequently identified in the Pacific region and was associated with several clinical variants of cutaneous disease (CL); eight cases of leishmaniasis recidiva cutis (LRC) found in the Pacific highlands were associated with 3 zymodemes of this species. Mucocutaneous leishmaniasis found only in the Amazonian focus was associated with 3 zymodemes of L. braziliensis. The papular variant of CL, Uta, found in the Andean highlands was related predominantly with a single zymodeme of L. mexicana. Conclusion Our data show a high degree of phenotypic variation within species, and some evidence for associations between specific variants of ATL (i.e. Uta and LRC) and specific Leishmania zymodemes. This study further defines the geographic distribution of Leishmania species and clinical variants of ATL in Ecuador. PMID:16968553

Clinical presentation of urinary tract infection (UTI) differs with aging in women.

Science.gov (United States)

Arinzon, Zeev; Shabat, Shay; Peisakh, Alexander; Berner, Yitshal

2012-01-01

Uncomplicated UTI is among the most common health problems seen in general practice and typically affects immunocompetent, anatomically normal women. The aim of this study was to explore the difference in clinical presentation in acute, uncomplicated UTI in otherwise healthy community dwelling, premenopausal (Pre-M) and postmenopausal (Post-M) women. A UTI was defined as uropathogen of more than 10(3)cfu/ml in midstream urine culture. Symptoms of UTI were divided to three: during voiding, local symptoms, and generalized symptoms. A total of 196 women aged a minimum of 45 years with diagnosis of UTI were studied. The patients were divided into two groups: Pre-M (n=102, mean age 48.14 years) and Post-M (n=94, mean age 69.21 years). The predominant complaints in Pre-M women were local symptoms. The clinical presentations showed more severity in the Post-M group than in Pre-M women, predominantly generalized unspecific symptoms and storage symptoms. Advanced age positively correlated with urgency of urination, painful voiding, urinary incontinence, sexual activity, low-back pain, lower abdominal pain and negatively correlated with frequency, painful and burning of urination and bladder pain. Our study showed that clinical presentation of UTI in Pre-M and Post-M women is different. The differences are presented not only by the voiding itself and by local symptoms but also by unspecified generalized symptoms that is especially important in elderly patients. Copyright © 2011. Published by Elsevier Ireland Ltd.

A review on the diagnosis and treatment of patients with clinically nonfunctioning pituitary adenoma by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism

International Nuclear Information System (INIS)

Vieira Neto, Leonardo; Gadelha, Monica R.; Boguszewski, Cesar L.; Bronstein, Marcello D.; Musolino, Nina R. de C.; Miranda, Paulo Augusto C.; Nave, Luciana A.; Vilar, Lucio; Oliveira Junior, Antonio Ribeiro

2016-01-01

Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism. Other presentations include pituitary apoplexy or an incidental finding on imaging studies. Mass effect and hypopituitarism impose high morbidity and mortality. However, early diagnosis and effective treatment minimizes morbidity and mortality. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism is to provide a review of the diagnosis and treatment of patients with NFPA, emphasizing that the treatment should be performed in reference centers. This review is based on data published in the literature and the authors' experience. (author)

A review on the diagnosis and treatment of patients with clinically nonfunctioning pituitary adenoma by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism

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Vieira Neto, Leonardo; Gadelha, Monica R., E-mail: mgadelha@hucff.ufrj.br [Hospital Universitario Clementino Fraga Filho (HUCFF/UFRJ), Rio de Janeiro, RJ (Brazil); Boguszewski, Cesar L. [Universidade Federal do Parana (SEMPR/UFPN), Curitiba, PR (Brazil). Hospital de Clinicas; Araujo, Luiz Antonio de [Centro de Endocrinologia e Diabetes de Joinville (Endoville), Joinville, SC (Brazil); Bronstein, Marcello D.; Musolino, Nina R. de C. [Universidade de Sao Paulo (FM/USP), Sao Paulo, SP (Brazil). Servico de Endocrinologia; Miranda, Paulo Augusto C. [Santa Casa de Belo Horizonte, Belo Horizonte, MG (Brazil). Servico de Endocrinologia e Metabologia; Nave, Luciana A. [Universidade de Brasilia (UnB), Brasilia, DF (Brazil). Hospital Universitario. Servico de Endocrinologia; Vilar, Lucio [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Servico de Endocrinologia; Oliveira Junior, Antonio Ribeiro [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Hospital das Clinicas. Servico de Endocrinologia

2016-11-01

Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism. Other presentations include pituitary apoplexy or an incidental finding on imaging studies. Mass effect and hypopituitarism impose high morbidity and mortality. However, early diagnosis and effective treatment minimizes morbidity and mortality. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism is to provide a review of the diagnosis and treatment of patients with NFPA, emphasizing that the treatment should be performed in reference centers. This review is based on data published in the literature and the authors' experience. (author)

Demographic profile, clinical presentation, management options in cranio-cerebral trauma

International Nuclear Information System (INIS)

Bhole, A.M.; Potode, R.; Joharapurkar, S.R.

2007-01-01

Head injury is a common condition that can result in either obvious neurological sequelae or imaging findings. The purpose of this study was to find out the epidemiology, clinical presentation and management options in patients with head injury at a rural centre of central India. In this retrospective study, data of all patients who attended the Department of Surgery, ABMH, Sawangi (Meghe), Wardha for cranio-cerebral trauma were included and a total of 200 patients were reviewed. Epidemiological and clinical details including investigations were noted for all the patients. Management offered to the patients was studied and outcome was analyzed. This study enrolled 200 patients. Male were more common than female. Young patients were commonly affected. Common presenting features were loss of consciousness and vomiting. Mild head injury was most common. Majority of patients were treated conservatively and indications for surgery were compound depressed fractures and significant intracranial haematomas. Cranio-cerebral injury patterns in developing countries particularly in rural area are no different from developed countries and knowledge of its causative factors, management and potential complications will help to plan active interventions that may improve outcome. It will also help in developing preventive measures. (author)

Canavan disease - unusual imaging features in a child with mild clinical presentation

International Nuclear Information System (INIS)

Nguyen, Ho V.; Ishak, Gisele E.

2015-01-01

Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

Canavan disease - unusual imaging features in a child with mild clinical presentation

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Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

2015-03-01

Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

Laboratory Diagnosis of Carbohydrate Metabolism Disorders. Diagnosis Algorithm in Hyperglycemic States

Directory of Open Access Journals (Sweden)

V.I. Pankiv

2014-04-01

Full Text Available The article is devoted to the laboratory diagnosis of disorders of carbohydrate metabolism. Presents criteria for diagnosis of diabetes, an algorithm for oral glucose tolerance test, determine type of diabetes based on clinical and laboratory data. The article also raised the issues of diagnosis of gestational diabetes and a diagnostic algorithm of hyperglycemia conditions during pregnancy.

Detecting Breech Presentation Before Labour: Lessons From a Low-Risk Maternity Clinic.

Science.gov (United States)

Ressl, Bill; O'Beirne, Maeve

2015-08-01

Evaluation of fetal position is an important part of prenatal care. A woman with a breech presentation may need referral for external cephalic version, for assisted breech delivery, or to schedule a Caesarean section. In many centres, a breech presentation undetected until labour will result in an emergency Caesarean section, a less desirable alternative for both the mother and the health care system. The anecdotal reports of undiagnosed breech presentations at a busy maternity clinic prompted a study to quantify the missed breech presentations and to evaluate the effectiveness of the current detection process, with the aim of allowing no more than 1% of breech presentations to remain undetected until labour. We performed a retrospective analysis of 102 breech deliveries over a 14 month period to quantify missed breech presentations, and used a prospective physician survey documenting how fetal presentation was determined at 186 prenatal visits over four months to analyze the current detection process. We found that approximately 8% of breech presentations were undetected until labour. We concluded that within the limitations of the small sample size evaluated, the current practice of using a vaginal examination to verify fetal presentation determined by abdominal palpation (Leopold's manoeuvres) may not be more accurate than abdominal palpation alone. The current detection process resulted in an unacceptably high rate of missed breech presentations. The results of this study prompted the clinic's acquisition of bedside ultrasound capability to assess fetal position.

Antiproliferative and metabolic effects of metformin in a preoperative window clinical trial for endometrial cancer

International Nuclear Information System (INIS)

Schuler, Kevin M; Rambally, Brooke S; DiFurio, Megan J; Sampey, Brante P; Gehrig, Paola A; Makowski, Liza; Bae-Jump, Victoria L

2015-01-01

We conducted a preoperative window study of metformin in endometrial cancer (EC) patients and evaluated its antiproliferative, molecular and metabolic effects. Twenty obese women with endometrioid EC were treated with metformin (850 mg) daily for up to 4 weeks prior to surgical staging. Expression of the proliferation marker Ki-67, estrogen receptor (ER), progesterone receptor (PR), adenosine monophosphate-activated protein kinase (AMPK), and downstream targets of the mammalian target of rapamycin (mTOR) pathway were measured by immunohistochemistry. Global, untargeted metabolomics analysis of serum pre- and postmetformin treatment, and matched tumor, was performed. Metformin reduced proliferation by 11.75% (P = 0.008) based on the comparison of pre- and posttreatment endometrial tumors. A total of 65% of patients responded to metformin as defined by a decrease in Ki-67 staining in their endometrial tumors post-treatment. Metformin decreased expression of phosphorylated (p)-AMPK (P = 0.00001), p-Akt (P = 0.0002), p-S6 (51.2%, P = 0.0002), p-4E-BP-1 (P = 0.001), and ER (P = 0.0002) but not PR expression. Metabolomic profiling of serum indicated that responders versus nonresponders to treatment were more sensitive to metformin's effects on induction of lipolysis, which correlated with increased fatty acid oxidation and glycogen metabolism in matched tumors. In conclusion, metformin reduced tumor proliferation in a pre-operative window study in obese EC patients, with dramatic effects on inhibition of the mTOR pathway. Metformin induced a shift in lipid and glycogen metabolism that was more pronounced in the serum and tumors of responders versus nonresponders to treatment.This study provides support for therapeutic clinical trials of metformin in obese patients with EC

Sex Difference in the Clinical Presentation of Primary Hyperparathyroidism: Influence of Menopausal Status.

Science.gov (United States)

Castellano, Elena; Attanasio, Roberto; Boriano, Alberto; Pellegrino, Micaela; Garino, Francesca; Gianotti, Laura; Borretta, Giorgio

2017-11-01

Female-to-male ratio in primary hyperparathyroidism (PHPT) is 3:1, but data on sex impact on the clinical presentation are limited. We evaluated, retrospectively, sex difference in biochemistry and clinical presentation at diagnosis in a monocentric series of 417 patients with PHPT: 93 men (58.6 ± 14.5 years), and 324 women (61.7 ± 12.8 years), of whom 54 were premenopausal (pre-F) and 270 postmenopausal (post-F). Men were significantly younger (P = 0.046) and more frequently symptomatic than women (62.3% vs 47%, P = 0.016). No sex difference was found in serum parathyroid hormone, calcium, creatinine, 25-hydroxy-vitamin D, and urinary calcium levels, whereas serum phosphate was higher in women. Nephrolithiasis (detected by imaging or history of passing stones) was more frequent in men (50.5% vs 33% in women, P = 0.003) and osteoporosis (T-score clinical presentation is different, mostly due to menopausal state. However, surgical referral was indicated equally in men and women. Copyright © 2017 Endocrine Society