Metabolic diseases

Bệnh gan nhiễm mỡ liên quan chuyển hóa (Metabolic associated fatty liver disease - MAFLD) là nguyên nhân hàng đầu gây bệnh gan mạn tính, trong dân số thừa cân, béo phì chiếm 50,7%. Nghiên cứu này nhằm tìm ra tỷ lệ hiện mắc và đặc điểm lâm sàng ở bệnh nhân thừa cân, béo phì mắc bệnh gan nhiễm mỡ liên quan chuyển hóa góp phần quản lý toàn diện nhóm bệnh nhân này.

8p vipanly 28-10-2024 1 1   Download

In patients with end-stage chronic kidney failure, there are a number of disorders that cause bone damage. In particular, secondary hyperparathyroidism (SHPT) is related to chronic kidney failure, a calcium-phosphorus metabolism disorder that causes bone disorder.

6p viengfa 23-10-2024 1 0   Download

This study aims to survey the clinical and paraclinical characteristics and coronary artery lesions in metabolic syndrome patients with coronary artery disease at Ninh Thuan General Hospital; and evaluate the relationship and correlation between the characteristics and extent of coronary artery lesions and the components of metabolic syndrome.

9p viormkorn 27-09-2024 3 2   Download

We report a case of a 7-year-old child with urolithiasis in autotransplanted kidney treated with minipercutaneous nephrolithotomy. The patient presented with hematuria and graft hydronephrosis. Diagnostic procedures revealed ureterolithiasis as a cause of obstruction and blood in urine. Mini-percutaneous nephrolithotomy was successfully performed and during surgery, all stone fragments were removed.

5p vinatisu 29-08-2024 3 1   Download

Wilson’s disease (WD) is a rare inherited copper metabolism disorder with many clinical symptoms highlighted by hepatic and cerebral features. We present the case of a 17 - year - old female patient with generalized tonic - clonic seizures and cerebellar ataxia who presented to our hospital.

4p vinatisu 29-08-2024 2 1   Download

Bài viết Tiếp cận chẩn đoán bệnh gan nhiễm mỡ liên quan chuyển hóa (Metabolic associatedfatty liver disease - MAFLD) nêu rõ hơn những lợi ích khi tiếp cận chẩn đoán theo hướng bệnh gan nhiễm mỡ liên quan chuyển hóa.

10p vihawkeye 26-05-2023 13 5   Download

Bệnh gan nhiễm mỡ liên quan chuyển hóa (Metabolic Associated Fatty Liver Disease - MAFLD) là định nghĩa mới được đề xuất bởi hội đồng chuyên gia quốc tế năm 2021 để thay thế cho thuật ngữ bệnh gan nhiễm mỡ không do rượu (Nonalcoholic fatty liver disease - NAFLD) và đã được Hiệp hội nghiên cứu về gan Châu Á - Thái Bình Dương đưa vào hướng dẫn chẩn đoán và điều trị.

14p vihawkeye 26-05-2023 16 3   Download

Single-nucleotide polymorphisms (SNP) are common genetic changes in the human genome. In recent time, many scientists have shown their interests in studies on SNPs’ roles in the pathological risk especially in cancer and metabolic diseases.

27p tamynhan0 15-06-2020 18 1   Download

Mice expressing a C-terminal fragment of the prion protein instead of wild-type prion protein die from massive neuronal degeneration within weeks of birth. The C-terminal region of PrPc (PrP121–231) expressed in these mice has an intrinsic neurotoxicity to cultured neurones. Unlike PrPSc, which is not neurotoxic to neurones lacking PrPc expression, PrP121–231 was more neurotoxic to PrPc-deficient cells. Human mutations E200K and F198S were found to enhance toxicity of PrP121–231 to PrP-knockout neurones and E200K enhanced toxicity to wild-type neurones.

10p system191 01-06-2013 30 4   Download

Wilson disease (WD), an inherited disorder affecting copper metabolism, is characterized by hepatic cirrhosis and neuronal degeneration, which result from toxic levels of copper that accumulate in the liver and brain, respectively. We reported previously that the  1.3-kb promoter of the WD gene contains four metal response elements (MREs). Among the four MREs, MREa plays the most important role in the transcriptional activation of the WD promoter.

11p research12 01-06-2013 53 3   Download

Reactive oxygen species (ROS) are products of normal metabolic activities and are thought to be the cause of many diseases. A selenium-containing single-chain abzyme 2F3 (Se-2F3-scFv) that imitates glutathione peroxidase has been produced which has the capacity to remove ROS. To evaluate the antioxidant ability of Se-2F3-scFv, we con-structeda ferrous sulfate/ascorbate (Vc/Fe 2+ )-inducedmito-chondrial damage model system and investigated the capacity of Se-2F3-scFv to protect mitochondria from oxi-dative damage.

6p tumor12 20-04-2013 33 4   Download

The therapeutic effect of iron (Fe) chelators on the poten-tially toxic plasma pool of nontransferrin-bound iron (NTBI), often present in Fe overload diseases and in some cancer patients during chemotherapy, is of considerable interest. In the present investigation, several multidentate pyridinones were synthesized and compared with their bidentateanalogue, deferiprone

10p fptmusic 16-04-2013 26 2   Download

Misfolded proteins, aggregates, and inclusion bodies are hall-marks of the cytopathology of neurodegenerative disorders including Huntington’s disease, Amyotropic lateral sclerosis, Parkinson’s disease, Prion diseases, and Alzheimer’s disease. The appearance of proteins with altered folded states is regula-ted by the protein folding quality control machinery and age-dependent. We have identified an unexpected molecular link between metabolic state, accumulation of damaged proteins, the heat-shock response and chaperones, and longevity....

61p fptmusic 11-04-2013 44 5   Download

Glucose-6-phosphate isomerase catalyzes the reversible aldose-ketose isomerization of D-glucose-6-phosphate to D-fructose-6-phosphate in glycolysis and gluconeogenesis, and in the recycling of hexose-6-phosphate in the pentose phosphate pathway. The unicellular protozoans,Trypan-osoma brucei, T. cruziandLeishmaniaspp., of the order Kinetoplastida are important human parasites responsible for African sleeping sickness, Chagas’ disease and leish-maniases, respectively. In these parasites, glycolysis is an important (and in some cases the only) metabolic pathway for ATP supply....

8p dell39 03-04-2013 36 3   Download

The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is char-acterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. Affected individuals display variable clinical manifestations ranging from mildly delayed speech development to severe psychomotor retardation with neurological handicap.

11p inspiron33 26-03-2013 45 5   Download

Huntington’s disease (HD) is a progressive neurodegenerative disorder characterized by multifarious dysfunctional alterations including mitochon-drial impairment. In the present study, the formation of inclusions caused by the mutation of huntingtin protein and its relationship with changes in energy metabolism and with pathological alterations were investigated both in transgenic and 3-nitropropionic acid-treated mouse models for HD.

16p inspiron33 23-03-2013 38 6   Download

Hypophosphatasia, a congenital metabolic disease related to the tissue-non-specific alkaline phosphatase gene (TNSALP), is characterized by reduced serum alkaline phosphatase levels and defective mineralization of hard tis-sues. A replacement of valine with alanine at position 406, located in the crown domain of TNSALP, was reported in a perinatal form of hypophos-phatasia.

11p media19 06-03-2013 39 3   Download

Heterozygous loss-of-function mutations at the glucosecerebrosidase locus have recently been shown to be a potent risk factor for Lewy body disease. Based on this observation, we have re-evaluated the likelihood that the dif-ferent PARK loci (defined using clinical criteria for disease) may be misleading attempts to find common pathways to pathogenesis.

7p vinaphone15 28-02-2013 49 3   Download

Obesity and its associated disorders, including diabetes and cardiovascular disease, have now reached epidemic proportions in the Western world, resulting in dramatic increases in healthcare costs. Understanding the pro-cesses and metabolic perturbations that contribute to the expansion of adi-pose depots accompanying obesity is central to the development of appropriate therapeutic strategies.

9p viettel02 20-02-2013 64 4   Download

Mutations in the alanine-glyoxylate aminotransferase gene (AGXT) are responsible for primary hyperoxaluria type I, a rare disease characterized by excessive hepatic oxalate production that leads to renal failure. A deeper understanding of the changes in the metabolic pathways secondary to the lack of AGXT expression is needed in order to explore substrate depletion as a therapeutic strategy to limit oxalate production in primary hyperoxal-uria type I.

9p viettel02 19-02-2013 46 2   Download