Metabolic diseases
Respiratory manifestations in patients with inherited metabolic diseases
... GAG deposition in the pharynx, larynx and trachea may lead to the need for proper airway management, from intubation to tracheostomy tube placement. Ultimately, this results in potentially life-threatening anaesthetic ...
17
Challenges of palliative care in children with inborn metabolic diseases
... with metabolic diseases reported by us who died during PPC did so in hospital or even in ...[16]. Metabolic diseases are a fairly complicated diagno- sis for parents and non-specialist health ...
7
Prevalence of chronic kidney disease and its association with metabolic diseases: a cross-sectional survey in Zhejiang province, Eastern China
... taken place, which may be related to the changed life- styles. Nationwide surveys of hypertension suggested that the prevalence of hypertension increased from 11.3 to 26.6% in the Chinese adult population ([26,27], and ...
7
The impact of ATP-binding cassette transporters on metabolic diseases
... of metabolic diseases, ABC transporters participate in the inhibition of metabolic diseases, including AS, hypoalphalipopro- teinemia (HA), coronary artery disease (CAD) and TD [13, ...
14
Microvesicles/exosomes as potential novel biomarkers of metabolic diseases
... Although it seems reasonable to determine biomarkers in disease-relevant and affected organs, tissues and cells where they typically occur at higher concentrations, it is of huge practical advantage to measure them in ...
36
Hypoglycaemia related to inherited metabolic diseases in adults
... These metabolic diseases disturb ß-cell intramitochondrial energy metabolism and induce non-regulated ATP over- production, which causes abnormal inactivation of the po- tassium channel and stimulation of ...
11
Metabolic diseases and pro- and prebiotics: Mechanistic insights
... Metabolic diseases, such as obesity and type 2 diabetes, are world-wide health ...of metabolic diseases is associated with dynamic changes in dietary macronutrient intake during the past ...
9
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
... professionals and other patients, offering a platform to develop support groups. Guiametabolica.org is widely considered for Spanish-speaking patients and caregivers with inherited metabolic diseases. ...
6
The diagnosis of inherited metabolic diseases by microarray gene expression profiling
... In this study, we investigated whether microarray gene expression profiling of cultured fibroblasts could identify the metabolic defect in 68 patients with proven or sus- pected inherited metabolic ...
8
Drug development for exceptionally rare metabolic diseases: challenging but not impossible
... the diseases for which this knowledge was lacking belonged to similar metabolic dis- ease subclasses ...genetic metabolic diseases with an eluci- dated gene function did not have an orphan ...
9
Microelements and Inherited Metabolic Diseases
... Several other genetic defects derived from impaired uti- lization of trace minerals (selenium and manganese, e.g.) have been considered, but the pathogenesis is still not cle- ar. As the number of known inherited ...
5
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
... Inherited metabolic diseases (IMD) are a large group of individually rare single gene disorders, most often diagnosed early in life, that involve defects in meta- bolic ...acute metabolic crises, ...
10
Epilepsy Aspects and EEG Patterns in Neuro Metabolic Diseases
... treatable diseases (such as GLUT1 deficiency, creatine deficiency, porphyria and urea cycle disorders) should be considered ...treatable diseases (mainly mitochondriopathies) should be ...
6
Berberine in Cardiovascular and Metabolic Diseases: From Mechanisms to Therapeutics
... BBR is well-known to improve glucose and lipid metabolic disorders. BBR was an approved compo- nent of nutraceuticals for treatment of hyperlipidemia in many countries [241]. Kong et al. [23] have described BBR as ...
29
Endocrine manifestations related to inherited metabolic diseases in adults
... transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex ...
19
Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery
... Bozzola et al. compared vaccination policies in chil- dren under 18 months against diphtheria, tetanus, per- tussis, hepatitis B, poliovirus, Haemophilus influenzae type b, measles, mumps, rubella and varicella among ...
15
Metabolic profiling of follistatin overexpression: a novel therapeutic strategy for metabolic diseases
... The specific decrease in BCAA observed in Epi tissues of the Fst-Tg could be explained either by decreased synthesis or by increased catabolism. We therefore, analyzed the expres- sion levels of BCAT2 that catalyzes the ...
20
Lipidomics unveils the complexity of the lipidome in metabolic diseases
... profiling in a single analytical run. In addition, chroma- tographic separation is often time intensive and gener- ates high error rates due to multiple steps involved in the process and requires a large amount of sample ...
13
Genetic Evaluation of Reproductive and Metabolic Disorders and Displaced Abomasum in Czech Holstein Cows
... and metabolic disorders and DA recorded in “The Diary of Diseases and Treatments” showed sufficient genetic variability for the estimation of basic genetic ...of metabolic diseases were ...
8
Pathophysiological role of host microbiota in the development of obesity
... of diseases, namely, cardiovascular diseases, type 2 diabetes, dyslipidemia, premature death, non-alcoholic fatty liver disease as well as different types of ...other metabolic diseases via ...
12