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At least 73 records · Page 4Linked to original sources
PubMed1999

[Cardiac involvement in metabolic diseases].

OBJECTIVE: To evaluate cardiac involvement in children with metabolic disease in the out patient clinic of the Pediatric Cardiology Unit of Maria Pia Children's Hospital and their follow-up. MATERIAL AND METHODS: Twenty-nine medical records belonging to out patients with metabolic disease in consultation at our unit were reviewed. The following data from each record was analyzed: sex, metabolic disease diagnosis, age and motive for referral to a pediatric cardiology unit, cardiology diagnosis, therapy and evolution. RESULTS: Seventeen patients were boys and 12 girls. The average age of referral was 7.2 years (SD 4.8). The motives for referral were: screening for heart disease, 16; heart murmur, 7; congestive heart failure, 3; heart murmur and fatigue, 2; poor weight gain, 1. The following metabolic diagnoses were made: lysosomal diseases, 21; mitochondrial citopathies, 5; disorder of beta-oxidation of fatty acids, 2; carbohydrate deficient glycoprotein syndrome (CDG syndrome), 1. The cardiologic evaluation was normal in ten patients (4 with lysosomal disease, 4 with mitochondrial citopathy, one disorder of beta-oxidation of fatty acids, the CDG syndrome). Mitral and aortic valve lesions predominated in lysosomal diseases (12/21); myocardial involvement alone was present in two patients, and both myocardial and valvular lesions were present in three. Dilated cardiomyopathy was the presented manifestation in two patients-one with mitochondrial citopathy and one with a disorder of beta-oxidation of fatty acids. Three patients died and 26 remain out-patients. One patient was submitted to valve surgery. The average duration of follow-up was 21 months (SD 24). COMMENTS: Lysosomal diseases were the most representative in our patients, as described in the literature. Heart valve disease was the most frequent alteration. Indication for heart valve surgery is dependent on systemic involvement of the primary disease. All children with a metabolic disease with eventual heart involvement should be evaluated periodically by a cardiology unit. On the other hand, it is mandatory to screen a cardiomyopathy of unknown cause for a metabolic disease. The authors draw attention to the importance of infectious endocarditis prophylaxis in this group of patients.

Ambulatory Care Facilities↗
PubMed2002

Does hereditary metabolic disease modulate senescence and ageing?

Hereditary metabolic diseases in the context of evolutionary biology elicit interesting questions about ageing and senescence: Will persons successfully treated for inborn errors of metabolism, age and die prematurely because of compromised longevity? Because some unhealthy longevity has its origins in germline and somatic mutational processes, and in an inability to withstand metabolic stress, are there lessons to be learned about senescence from hereditary metabolic disease? Why are ageing, senescence and death necessary for Homo sapiens and how do they happen? These questions form the theme upon which several variations are played during the course of this essay. The theory of the disposable soma recognizes genomic and environmental events, well-seasoned by Chance, as determinants of ageing and senescence. Together, they cause the somatic damage that results in death. Genomics will reveal genes involved in longevity, both healthy and unhealthy. There will be schedules of gene expression behind our life-history traits. As in the field of hereditary metabolic disease, analogous genetic enquiries about ageing can be formulated. For example, how will heterozygotes age? Will association studies in centenarians reveal 'longevity genes'? Will disparate longevity in sib pairs reveal genetic factors? If there are 'ageing' mutations, of what types and with what effects? Will these initiatives lead to healthier longevity? A deeper question yet remains: why has human biology invested so greatly in grandparenthood?

Aging↗
PubMed1977

An approach to the diagnosis of overwhelming metabolic disease in early infancy.

Heritable metabolic disease is a significant cause of overwhelming illness in the very young infant. It appears that most patients with well recognized disorders are not being diagnosed, and it is our conviction that there are new, as yet unidentified, inborn errors of metabolism in this population of patients. We have attempted to develop a systematic approach to the seriously ill newborn as a candidate for an early diagnosis of metabolic disease. There are some clinical clues that suggest the presence of disordered metabolism. The laboratory can be useful in confirming initial clinical suspicions and in screening for the presence of abnormality. The complexity of laboratory evaluation increases as one proceeds to definitive diagnosis and modern organic analysis.

Amino Acid Metabolism, Inborn Errors↗
PubMed2004

Monitoring and testing dairy herds for metabolic disease.

Clinical impressions of metabolic disease problems in dairy herds can be corroborated with herd-based metabolic testing. Ruminal pH should be evaluated in herds showing clinical signs associated with SARA (lame cows, thin cows, high herd removals or death loss across all stages of lactation, or milk fat depression). Testing a herd for the prevalence of SCK via blood BHB sampling in early lactation is useful in almost any dairy herd, and particularly if the herd is experiencing a high incidence of displaced abomasum or high removal rates of early lactation cows. If cows are experiencing SCK within the first 3 weeks of lactation, then consider NEFA testing of the prefresh cows to corroborate prefresh negative energy balance. Finally, monitoring cows on the day of calving for parturient hypocalcemia can provide early detection of diet-induced problems in calcium homeostasis. If hypocalcemia problems are present despite supplementing anionic salts before calving, then it may be helpful to evaluate mean urinary pH of a group of the prefresh cows. Quantitative testing strategies based on statistical analyses can be used to establish minimum sample sizes and interpretation guidelines for all of these tests.

Acidosis↗
PubMed1994

Organ transplantation for inherited metabolic disease.

Liver transplantation for inherited metabolic disease is a therapeutic reality in the 1990s. Careful patient selection and timing and choice of operative procedure should greatly improve the quality of life and long term survival for those children with life threatening metabolic disease. The rapid expansion of molecular genetics and the development of effective gene therapy may well displace liver transplantation as appropriate treatment of these disorders in the future.

Child↗
PubMed2000

Psychiatric symptoms of inherited metabolic disease.

Inborn errors of metabolism often present with a variety of psychiatric symptoms. With improved diagnosis and treatment options, many patients have increased lifespans; consequently, issues of long-term quality of life are coming to the forefront. Mental health concerns are among these issues. To demonstrate the connection between the course of metabolic disease and its psychiatric manifestations, four different inborn errors of metabolism are reviewed: phenylketonuria, Wilson disease, acute intermittent porphyria, and metachromatic leukodystrophy.

Hepatolenticular Degeneration↗
PubMed1989

[Metabolic diseases causing acidosis in the neonatal period].

The diagnosis of metabolic diseases during the newborn period is difficult because symptoms and findings are similar to those generally encountered in newborn babies who are ill. Moreover, metabolic diseases are often complicated by infections and cerebral hemorrhages. The article presents a short clinical review of metabolic diseases associated with metabolic acidosis in the newborn and discusses appropriate investigations and differential diagnoses. It is important to remember the possibility of metabolic diseases as the cause of metabolic acidosis in the newborn period.

Acidosis↗
PubMed1990

Prenatal diagnosis of metabolic disease.

Early detection of metabolic disease affords the possibility of the best possible outcome for affected infants. Prenatal diagnostic capabilities allow for the institution of prenatal therapy, when indicated, and postnatal optimal management. Special formulas, supplemental nutritional therapies, and avoidance of dangerous substrates can be begun in the delivery room, if the affected status of the patient is known. Such therapies are the current mainstay of treatment of inborn errors of metabolism. Earliest possible institution of these therapies allows hope for the best possible outcome for affected infants.

Female↗
PubMed1992

Coronary artery disease: metabolic risk factors and latent disease in individuals with paraplegia.

Individuals with spinal cord injury (SCI) currently have a longer life span as a result of recent improvements in medical care. As in the able-bodied population, cardiovascular disease is the leading cause of death in persons with SCI, but it appears to occur at younger ages in those with SCI than in the able-bodied population. The reduction in level of activity and adverse changes in body composition caused by SCI have profound metabolic consequences that may influence the progression and severity of coronary artery disease. Metabolic sequelae of SCI include disorders of carbohydrate and lipid metabolism. Almost half of the 45 active, healthy subjects with paraplegia we studied have a disorder of carbohydrate tolerance, 1 in 5 subjects having a diabetic oral glucose tolerance test. Hyperinsulinemia is found in those with abnormal glucose tolerance. Subjects with paraplegia having impaired glucose tolerance or diabetes mellitus are significantly older than those with normal glucose tolerance. High-density lipoprotein cholesterol is markedly depressed, and low density lipoprotein is relatively elevated. Radionuclide myocardial perfusion imaging after upper body ergometry exercise reveals latent coronary artery disease in 12 of 19 subjects with paraplegia.

Adult↗
PubMedDate not supplied

[Maculopathy in hereditary metabolic diseases].

It was effected one study for fifteen children between two month and six years old with different diseases MDH (metabolic hereditary diseases) GM2 (Tay-Sachs and Sandhoff) (amaurotic idiocy), ceroid lipofuscinosis (Spielmeyer-Vogt-Batten-Mayou). Leigh maladie and other forms by MHD with unspecified diagnosis. It was effected neurologic exam, enzymatic measures, conjunctival biopsy, ophthalmologic exam with electroretinogram and evoked potentials. It was found an important element by differential diagnosis between gangliosidosis with normal ERG and ceroid lipofuscinosis with perturbate ERG. ERG is frequent precocious adulterated.

Child↗
PubMed1998

["Therapy of Crohn disease" guideline. German Society of Digestive and Metabolic Diseases].

During a consensus conference of the German Society for Digestive and Metabolic Diseases, seven working groups gathered in Halle (Saale) covering the topic "Therapy of Crohn's Disease". The goal of this conference was to establish standard recommendations for the conservative, dietary, surgical and psychosomatic treatment of intestinal and extraintestinal manifestations. These recommendations are based on the personal experience of the experts involved as well as the literature. In preparation of the conference, questionnaires were developed which were answered by all nearly 100 physicians specializing in internal medicine and gastroenterology. These were analysed by the chairmen of the working groups which wrote a consensus proposal in Halle. This was discussed, modified and passed by the plenary session and subsequently published in the Zeitschrift für Gastroenterologie (German J Gastroenterology) with a comment and the relevant literature. The guideline became a standard in German gastroenterology. Unfortunately, only half of the recommendations are supported by controlled trials and other representatives of the health care system were not involved. Currently an update of this guideline is prepared via internet (www.prous.com/ts).

Crohn Disease↗
PubMed2004

Visceral fat thickness measured by ultrasonography can estimate not only visceral obesity but also risks of cardiovascular and metabolic diseases.

BACKGROUND: Visceral obesity is closely associated with cardiovascular disease and the metabolic syndrome. Estimating the amount of visceral fat is important and requires a straightforward, reliable, and practical method. OBJECTIVE: We investigated whether visceral fat thickness (VFT) measured by ultrasonography can adequately assess visceral fat accumulation and predict cardiovascular or metabolic diseases. DESIGN: Diabetic patients (240 men and 106 women) underwent ultrasonography to estimate visceral fat accumulation. RESULTS: The visceral adipose tissue area had the best correlation with VFT (r = 0.799, P < 0.001). VFT correlated with HDL-cholesterol, triacylglycerol, and high-sensitivity C-reactive protein concentrations, the homeostasis model assessment for insulin resistance, and the intima-media thickness at the common carotid artery (r = -0.30, 0.39, 0.34, 0.31, and 0.33, respectively; P < 0.05) in men and with triacylglycerol and high-sensitivity C-reactive protein concentrations and the homeostasis model assessment for insulin resistance (r = 0.33, 0.44, and 0.30, respectively; P < 0.05) in women. Men in the middle and high VFT tertiles had a higher odds ratio (OR) of coronary artery disease [ORs: 4.48 (95% CI: 1.29, 5.51) and 2.04 (1.06, 3.94), respectively; P = 0.016], hypertriacylglycerolemia [ORs: 2.87 (1.41, 5.86) and 1.91 (1.24, 2.95), respectively; P = 0.003], and the metabolic syndrome [ORs: 3.38 (1.61, 7.10) and 1.95 (1.16, 3.27), respectively; P = 0.003] than did those in the low tertile, after adjustment for age, waist circumference, and body mass index. CONCLUSION: VFT might be a reliable index for assessing the amount of visceral fat and for identifying diabetic patients, particularly men, who are at high risk of cardiovascular disease.

Abdomen↗
PubMed2006

Bone morphogenetic proteins and growth differentiation factors as drug targets in cardiovascular and metabolic disease.

Bone morphogenetic proteins (BMPs) and growth differentiation factors (GDFs) control the development and homeostasis of multiple tissue types in many organisms, from humans to invertebrates. These morphogens are expressed in a tissue-specific manner and they signal by binding to serine-threonine kinase receptors, resulting in coordinated changes in gene expression that regulate the differentiation and development of multiple tissue types. In addition, these proteins are regulated post-transcriptionally through binding to several soluble proteins. In this review we focus on a subset of BMPs and GDFs that have been implicated in the pathophysiology of type 2 diabetes and cardiovascular disease.

Animals↗