Objective:To develop the missing link between hyperuricemia and hypertension.Methods:The study was conducted in Department of Biochemistry in collaboration with Nephrology Unit of Internal Medicine Department.Hyperten...Objective:To develop the missing link between hyperuricemia and hypertension.Methods:The study was conducted in Department of Biochemistry in collaboration with Nephrology Unit of Internal Medicine Department.Hypertension was defined according to blood pressure readings by definitions of the Seventh Report of the Joint National Committee.Totally 205newly diagnosed and untreated essential hypertensive cases and age-sex matched nonnotensive controls were enrolled in the study.The potential confounding factors of hyperuricemia and hypertension in both cases and controls were controlled.Uric acid levels in all participants were analyzed.Results:Renal function between newly diagnosed hypertensive cases and nonnotensive healthy controls were adjusted.The mean serum uric acid observed in newly diagnosed hypertensive cases and in nonnotensive healthy controls were(290.05±87.03)μmol/L and(245.24±09.38)μmol/L respectively.A total of 59(28.8%)participants of cases and 28(13.7%)participants of controls had hyperuricemia(odds ratio 2.555(95%CI:1.549-4.213),P<0.00l).Conclusions:The mean serum uric acid leveb and number of hyperuricemic subjects were found to be significantly higher in cases when compared to controls.展开更多
Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world...Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world-wide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one “A” at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is sup-posed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.展开更多
Diffuse pulmonary lymphangiomatosis （DPL） is a rare disease that is characterized by diffuse proliferation of abnormal pulmonary lymphatic channels. DPL occurs mostly in children and young adults and often undergoes...Diffuse pulmonary lymphangiomatosis （DPL） is a rare disease that is characterized by diffuse proliferation of abnormal pulmonary lymphatic channels. DPL occurs mostly in children and young adults and often undergoes a progressive clinical course, eventually causing deterioration of the lung. Both the clinical diagnosis and treatment of DPL remain a challenge. Here, we report a case of DPL in a 53-year-old Chinese woman with comprehensive investigations including pulmonary function tests, computer tomography （CT）, bronchoscopy and histological examination of the lung biopsy, and review the literature.展开更多
Defining pathophenotype, a systems level consequence of a disease genotype, together with environmental and stochastic influences, is an arduous task in psychiatry. It is also an appealing goal, given growing need for...Defining pathophenotype, a systems level consequence of a disease genotype, together with environmental and stochastic influences, is an arduous task in psychiatry. It is also an appealing goal, given growing need for appreciation of brain disorders biological complexity, aspiration for diagnostic tests development and ambition to identify novel drug targets. Here, we focus on the Schizophrenia and Major Depressive Disorder and highlight recent advances in metabolomics research. As a systems biologytool, metabolomics holds a promise to take part in elucidating interactions between genes and environment, in complex behavioral traits and psychopathology risk translational research.展开更多
基金Supported by Department of Biochemistry,Institute of Medicine.Tribhuvan University Teaching Hospital,Kathmandu.Nepal(Grant No.30-956/2013CEA)
文摘Objective:To develop the missing link between hyperuricemia and hypertension.Methods:The study was conducted in Department of Biochemistry in collaboration with Nephrology Unit of Internal Medicine Department.Hypertension was defined according to blood pressure readings by definitions of the Seventh Report of the Joint National Committee.Totally 205newly diagnosed and untreated essential hypertensive cases and age-sex matched nonnotensive controls were enrolled in the study.The potential confounding factors of hyperuricemia and hypertension in both cases and controls were controlled.Uric acid levels in all participants were analyzed.Results:Renal function between newly diagnosed hypertensive cases and nonnotensive healthy controls were adjusted.The mean serum uric acid observed in newly diagnosed hypertensive cases and in nonnotensive healthy controls were(290.05±87.03)μmol/L and(245.24±09.38)μmol/L respectively.A total of 59(28.8%)participants of cases and 28(13.7%)participants of controls had hyperuricemia(odds ratio 2.555(95%CI:1.549-4.213),P<0.00l).Conclusions:The mean serum uric acid leveb and number of hyperuricemic subjects were found to be significantly higher in cases when compared to controls.
文摘Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world-wide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one “A” at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is sup-posed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.
文摘Diffuse pulmonary lymphangiomatosis （DPL） is a rare disease that is characterized by diffuse proliferation of abnormal pulmonary lymphatic channels. DPL occurs mostly in children and young adults and often undergoes a progressive clinical course, eventually causing deterioration of the lung. Both the clinical diagnosis and treatment of DPL remain a challenge. Here, we report a case of DPL in a 53-year-old Chinese woman with comprehensive investigations including pulmonary function tests, computer tomography （CT）, bronchoscopy and histological examination of the lung biopsy, and review the literature.
文摘Defining pathophenotype, a systems level consequence of a disease genotype, together with environmental and stochastic influences, is an arduous task in psychiatry. It is also an appealing goal, given growing need for appreciation of brain disorders biological complexity, aspiration for diagnostic tests development and ambition to identify novel drug targets. Here, we focus on the Schizophrenia and Major Depressive Disorder and highlight recent advances in metabolomics research. As a systems biologytool, metabolomics holds a promise to take part in elucidating interactions between genes and environment, in complex behavioral traits and psychopathology risk translational research.
