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Article ; Online: Regulatory Mechanisms of Mitochondrial Function and Cardiac Aging.

Lin, Ruizhu / Kerkelä, Risto

International journal of molecular sciences

2020 Volume 21, Issue 4

Abstract: Aging is a major risk factor for cardiovascular diseases (CVDs), the major cause of death worldwide. Cardiac myocytes, which hold the most abundant mitochondrial population, are terminally differentiated cells with diminished regenerative capacity in the ...

Abstract	Aging is a major risk factor for cardiovascular diseases (CVDs), the major cause of death worldwide. Cardiac myocytes, which hold the most abundant mitochondrial population, are terminally differentiated cells with diminished regenerative capacity in the adult. Cardiomyocyte mitochondrial dysfunction is a characteristic feature of the aging heart and one out of the nine features of cellular aging. Aging and cardiac pathologies are also associated with increased senescence in the heart. However, the cause and consequences of cardiac senescence during aging or in cardiac pathologies are mostly unrecognized. Further, despite recent advancement in anti-senescence therapy, the targeted cell type and the effect on cardiac structure and function have been largely overlooked. The unique cellular composition of the heart, and especially the functional properties of cardiomyocytes, need to be considered when designing therapeutics to target cardiac aging. Here we review recent findings regarding key factors regulating cell senescence, mitochondrial health as well as cardiomyocyte rejuvenation.
MeSH term(s)	Aging/metabolism ; Animals ; Cellular Reprogramming ; Humans ; Mitochondria/metabolism ; Mitophagy ; Myocardium/metabolism ; Myocytes, Cardiac/cytology ; Myocytes, Cardiac/metabolism
Language	English
Publishing date	2020-02-18
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms21041359
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Article ; Online: Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Shao, Yong-Xian / Liang, Cui-Li / Su, Ya-Ying / Lin, Yun-Ting / Lu, Zhi-Kun / Lin, Rui-Zhu / Zhou, Zhi-Zi / Zeng, Chun-Hua / Tao, Chun-Yan / Liu, Zong-Cai / Zhang, Wen / Liu, Li

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 155

Abstract: Background: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, ... ...

Abstract	Background: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and neutropenia. Traditional treatment consists of feeding raw cornstarch which can help to adjust energy metabolism but has no positive effect on neutropenia, which is fatal for these patients. Recently, the pathophysiologic mechanism of the neutrophil dysfunction and neutropenia in GSD Ib has been found, and the treatment with the SGLT2 inhibitor empaglifozin is now well established. In 2020, SGLT2 inhibitor empagliflozin started to be used as a promising efficient remover of 1,5AG6P in neutrophil of GSD Ib patients worldwide. However, it is necessary to consider long-term utility and safety of a novel treatment. Results: In this study, we retrospectively examined the clinical manifestations, biochemical examination results, genotypes, long-term outcomes and follow-up of thirty-five GSD Ib children who visited our department since 2009. Fourteen patients among them underwent empagliflozin treatment since 2020. This study is the largest cohort of pediatric GSD Ib patients in China as well as the largest cohort of pediatric GSD Ib patients treated with empagliflozin in a single center to date. The study also discussed the experience of long-term management on pediatric GSD Ib patients. Conclusion: Empagliflozin treatment for pediatric GSD Ib patients is efficient and safe. Increase of urine glucose is a signal for pharmaceutical effect, however attention to urinary infection and hypoglycemia is suggested.
MeSH term(s)	Child ; Humans ; Antiporters ; Benzhydryl Compounds ; Follow-Up Studies ; Glucose ; Glucosides ; Glycogen Storage Disease Type I/drug therapy ; Hypoglycemia ; Monosaccharide Transport Proteins/genetics ; Neutropenia ; Retrospective Studies ; Sodium-Glucose Transporter 2 Inhibitors/therapeutic use
Chemical Substances	Antiporters ; Benzhydryl Compounds ; empagliflozin (HDC1R2M35U) ; Glucose (IY9XDZ35W2) ; Glucosides ; Monosaccharide Transport Proteins ; SLC37A4 protein, human ; Sodium-Glucose Transporter 2 Inhibitors
Language	English
Publishing date	2024-04-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03137-6
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Article ; Online: A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Lin, Yunting / Zeng, Chunhua / Lu, Zhikun / Lin, Ruizhu / Liu, Li

Clinical genetics

2019 Volume 96, Issue 1, Page(s) 98–101

Abstract: Here we describe the second case of primary microcephaly caused by a novel homozygous splice-site variant at the NCAPD2 gene. The proband was born with microcephaly, and developed intellectual disability. Whole exome sequencing identified a canonical ... ...

Abstract	Here we describe the second case of primary microcephaly caused by a novel homozygous splice-site variant at the NCAPD2 gene. The proband was born with microcephaly, and developed intellectual disability. Whole exome sequencing identified a canonical splice-site variant, c.3477+2T>C, at the NCAPD2 gene. Sanger sequencing showed that the proband and her sibling, a symptomatic fetus, carried a homozygous c.3477+2T>C variant, while the unaffected parents were heterozygous and her younger brother had wild-type alleles. To date, only one case of primary microcephaly with a homozygous splice-site pathogenic variant at the NCAPD2 gene has been reported. Our study of two siblings provides additional evidence that NCAPD2 is a causative gene of primary microcephaly. This finding adds new knowledge in the etiology of microcephaly and contributes to more accurate counseling of affected families.
MeSH term(s)	Child Development ; Chromosomal Proteins, Non-Histone/genetics ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Infant ; Magnetic Resonance Imaging ; Microcephaly/diagnosis ; Microcephaly/genetics ; Mutation ; Pedigree ; Phenotype ; Poly-ADP-Ribose Binding Proteins/genetics ; Prenatal Diagnosis ; RNA Splice Sites ; Siblings
Chemical Substances	Chromosomal Proteins, Non-Histone ; NCAPD2 protein, human ; Poly-ADP-Ribose Binding Proteins ; RNA Splice Sites
Language	English
Publishing date	2019-05-23
Publishing country	Denmark
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13559
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Article ; Online: Endothelin-1 is associated with mortality that can be attenuated with high intensity statin therapy in patients with stable coronary artery disease.

Lin, Ruizhu / Junttila, Juhani / Piuhola, Jarkko / Lepojärvi, E Samuli / Magga, Johanna / Kiviniemi, Antti M / Perkiömäki, Juha / Huikuri, Heikki / Ukkola, Olavi / Tulppo, Mikko / Kerkelä, Risto

Communications medicine

2023 Volume 3, Issue 1, Page(s) 87

Abstract: Background: All coronary artery disease (CAD) patients do not benefit equally of secondary prevention. Individualized intensity of drug therapy is currently implemented in guidelines for CAD and diabetes. Novel biomarkers are needed to identify patient ... ...

Abstract	Background: All coronary artery disease (CAD) patients do not benefit equally of secondary prevention. Individualized intensity of drug therapy is currently implemented in guidelines for CAD and diabetes. Novel biomarkers are needed to identify patient subgroups potentially benefitting from individual therapy. This study aimed to investigate endothelin-1 (ET-1) as a biomarker for increased risk of adverse events and to evaluate if medication could alleviate the risks in patients with high ET-1. Methods: A prospective observational cohort study ARTEMIS included 1946 patients with angiographically documented CAD. Blood samples and baseline data were collected at enrollment and the patients were followed for 11 years. Multivariable Cox regression was used to assess the association between circulating ET-1 level and all-cause mortality, cardiovascular (CV) death, non-CV death and sudden cardiac death (SCD). Results: Here we show an association of circulating ET-1 level with higher risk for all-cause mortality (HR: 2.06; 95% CI 1.5-2.83), CV death, non-CV death and SCD in patients with CAD. Importantly, high intensity statin therapy reduces the risk for all-cause mortality (adjusted HR: 0.05; 95% CI 0.01-0.38) and CV death (adjusted HR: 0.06; 95% CI 0.01-0.44) in patients with high ET-1, but not in patients with low ET-1. High intensity statin therapy does not associate with reduction of risk for non-CV death or SCD. Conclusions: Our data suggests a prognostic value for high circulating ET-1 in patients with stable CAD. High intensity statin therapy associates with reduction of risk for all-cause mortality and CV death in CAD patients with high ET-1.
Language	English
Publishing date	2023-06-22
Publishing country	England
Document type	Journal Article
ISSN	2730-664X
ISSN (online)	2730-664X
DOI	10.1038/s43856-023-00322-9
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Article ; Online: Protocol for a single-blind randomized clinical trial to test the efficacy of bilateral transcranial magnetic stimulation on upper extremity motor function in patients recovering from stroke.

Huang, Yuan / Lin, Ruizhu / Li, Hongyu / Xu, Yujuan / Tian, Fubao / Ma, Liangchen / Liu, Xiaoli / Ma, Shuming / Li, Xiaolong / Lai, Zheying / Bai, Chuanping / He, Weichun / Ma, Qi / Wang, Jingkai / Zhu, Ning

Trials

2023 Volume 24, Issue 1, Page(s) 601

Abstract: Background: No consensus currently exists regarding the optimal protocol for repetitive transcranial magnetic stimulation (rTMS) treatment of upper-extremity motor dysfunction after stroke. Studies have shown that combined low- and high-frequency ... ...

Abstract	Background: No consensus currently exists regarding the optimal protocol for repetitive transcranial magnetic stimulation (rTMS) treatment of upper-extremity motor dysfunction after stroke. Studies have shown that combined low- and high-frequency stimulation (LF-HF-rTMS) of the bilateral cerebral hemispheres is more effective than sham stimulation or stimulation of one cerebral hemisphere alone in treating motor dysfunction in the subacute stage of stroke. The efficacy of this protocol in the convalescence phase of stroke has rarely been reported, and its mechanism of action has not been clarified. In this study, we designed a prospective, single-blind, randomized controlled trial to investigate the efficacy and safety of different stimulation regimens for the treatment of upper extremity motor disorders in patients with convalescent stage stroke and aimed to explore the underlying mechanisms based on biomarkers such as brain-derived neurotrophic factor (BDNF). Methods: Seventy-six subjects will be randomly divided into combined, low-frequency, high-frequency, and control groups based on the proportion of 1:1:1:1, with 19 cases in each group. All groups will have conventional rehabilitation, on top of which the combined group will receive 1 Hz rTMS in the unaffected hemisphere and 10 Hz rTMS in the affected hemisphere. The low-frequency group will be administered 1 Hz rTMS in the unaffected hemisphere and sham stimulation in the contralateral hemisphere. The high-frequency group will be administered 10 Hz rTMS in the affected hemisphere and contralateral sham stimulation. The control group will receive bilateral sham stimulation. Assessments will be performed at baseline, after 2 weeks of treatment, and at post-treatment follow-up at week 6. The primary outcomes are FMA-UE (Fugl-Meyer assessment-upper extremity), latency, and serum BDNF levels. The secondary outcomes are the National Institute of Health Stroke Scale (NIHSS), Brunnstrom staging (BS), modified Ashworth scale (MAS), Modified Barthel Index (MBI), central motor conduction time (CMCT), precursor proteins of mature BDNF (proBDNF), and matrix metalloproteinase-9 (MMP-9) levels. Adverse events, such as headaches and seizures, will be recorded throughout the study. Discussion: The findings of this study will help develop optimal stimulation protocols for motor recovery in stroke patients and identify biomarkers that respond to post-stroke motor rehabilitation, for better guidance of clinical treatment. Trial registration: The study protocol was passed by the Medical Research Ethics Committee of the General Hospital of Ningxia Medical University on January 1, 2022 (no. KYLL-2021-1082). It was registered into the Chinese Clinical Trials Registry on May 22, 2022 (no. ChiCTR2200060201). This study is currently in progress.
MeSH term(s)	Humans ; Transcranial Magnetic Stimulation/adverse effects ; Brain-Derived Neurotrophic Factor ; Prospective Studies ; Single-Blind Method ; Stroke/diagnosis ; Stroke/therapy ; Randomized Controlled Trials as Topic
Chemical Substances	Brain-Derived Neurotrophic Factor
Language	English
Publishing date	2023-09-22
Publishing country	England
Document type	Clinical Trial Protocol ; Journal Article
ZDB-ID	2040523-6
ISSN	1745-6215 ; 1468-6694 ; 1745-6215
ISSN (online)	1745-6215
ISSN	1468-6694 ; 1745-6215
DOI	10.1186/s13063-023-07584-7
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Article: [Effect of internal heat-type acupuncture needle on the expression of osteoprotegerin, receptor activator of NF-κB ligand and receptor activator of NF-κB of subchondral bone in knee osteoarthritis rabbits].

Hei, Xiao-Yan / Xu, Jian-Feng / Zhu, Shi-Qiang / Tian, Xin-Bao / Zhang, Jin-Chen / Chen, Yun-Dong / Lin, Rui-Zhu

Zhen ci yan jiu = Acupuncture research

2021 Volume 46, Issue 8, Page(s) 656–662

Abstract: Objective: To investigate the effect of internal heat-type acupuncture needle on the expression of osteoprotegerin (OPG), receptor activator of NF-κB ligand (RANKL), and receptor activator of NF-κB (RANK) in knee osteoarthritis (KOA) rabbits, so as to ... ...

Abstract	Objective: To investigate the effect of internal heat-type acupuncture needle on the expression of osteoprotegerin (OPG), receptor activator of NF-κB ligand (RANKL), and receptor activator of NF-κB (RANK) in knee osteoarthritis (KOA) rabbits, so as to explore its mechanisms in relieving KOA. Methods: Thirty New Zealand rabbits were randomly divided into control, model and treatment groups, with 10 rabbits in each group. The KOA model was established by using Hulth method. The rabbits of the treatment group received internal heat-type acupuncture needles (42 ℃) on the left hind limb 20 min, once a week for 4 weeks. The behavioral scores were assessed according to the pain severity, gait, joint motion range and articular swelling severity in reference to the modified Lequesne's methods. Toluidine Blue staining was performed to observe the structure of the subchondral bone and to analyze the difference of morphometric parameters. The protein and mRNA expressions of OPG, RANKL and RANK were detected by Western blot and real-time PCR, respectively. Results: Compared with the control group, the Lequesne total score, the separation degree of trabecular bone, the protein and mRNA expressions of RANKL and RANK in subchondral bone tissues were significantly increased in the model group, while the percentage of trabecular bone area, number of trabecular bone, the expression of OPG protein and mRNA were decreased ( Conclusion: The internal heat-type acupuncture needle therapy can improve the motor function of rabbits with KOA, which may be related to its effects in up-regulating the expression of OPG and down-regulating the RANKL and RANK in subchondral bone tissue.
MeSH term(s)	Acupuncture Therapy ; Animals ; Bone and Bones ; Hot Temperature ; Ligands ; Needles ; Osteoarthritis, Knee/genetics ; Osteoarthritis, Knee/therapy ; Osteoprotegerin/genetics ; Rabbits ; Receptor Activator of Nuclear Factor-kappa B
Chemical Substances	Ligands ; Osteoprotegerin ; Receptor Activator of Nuclear Factor-kappa B
Language	Chinese
Publishing date	2021-09-02
Publishing country	China
Document type	Journal Article
ZDB-ID	1283179-7
ISSN	1000-0607
ISSN	1000-0607
DOI	10.13702/j.1000-0607.200976
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Article ; Online: Hui Medicine Moxibustion Promotes the Absorption of Lumbar Disc Herniation and the Recovery of Motor Function in Rats through Fas/FasL Signaling Pathway.

Xu, Jianfeng / Luo, Qiang / Song, Junyao / Zhang, Yanming / Wang, Yingxu / Yang, Lei / Sha, Yinyin / Sun, Bowen / You, Na / Tian, Xinbao / Lin, Ruizhu / Wu, Yongli

publication RETRACTED

BioMed research international

2022 Volume 2022, Page(s) 9172405

Abstract: Objectives: To study the resorption of the herniated lumbar disc (RHLD) and its mechanism in the SD rats of lumbar intervertebral disc herniation treated with Hui medicine moxibustion (HMM).: Methods: Forty SD rats were randomly divided into four ... ...

Abstract	Objectives: To study the resorption of the herniated lumbar disc (RHLD) and its mechanism in the SD rats of lumbar intervertebral disc herniation treated with Hui medicine moxibustion (HMM). Methods: Forty SD rats were randomly divided into four groups, normal group, lumbar disc herniation (LDH) group, HMM group, and antagonist (HMM+Met12) group, with 10 rats in each group. The rat model of LDH was prepared with the method of lumbar epidural emplacement of the caudal intervertebral disc. In the HMM group and HMM+Met12 groups, 4 weeks after modeling, HMM therapy was performed in the lumbar spine for 3 months with 1 time per day and 20 min each time, the samples were collected 8 weeks after the treatment. The histological degeneration was observed through HE staining, and the neovascularization of intervertebral disc tissues was detected by the expression of CD34 and vascular endothelial growth factor (VEGF). The apoptosis of nucleus pulpous cells was detected by TUNEL assay, and the activity of caspase-3, -8, and -9 and extracellular matrix enzymes was detected by western blotting. Results: HMM treatment significantly improved the behavioral ability of rats with LDH surgery. The morphological structure was obviously destroyed in the LDH group, but disc structure was significantly repaired in the HMM group, and mild structure alterations were observed in the HMM+Met12 group. Higher levels of CD34 and VEGF were detected in the HMM group indicating that neovascularization is formed. The expression level of FasL was significantly increased in the HMM group. The protein expression levels of cleaved-caspase-3, cleaved-caspase-8, and cleaved-caspase-9 in nucleus pulposus (NP) tissues were also elevated when treated with HMM, and the TUNEL staining showed the same results. The protein expression levels of matrix metalloproteinases- (MMP-) 1, MMP-2, MMP-3, MMP-13, and ADAMTS-4 were markedly promoted in the HMM group. Met12, a small peptide antagonist of FasL, significantly reduced the effects of HMM. Conclusion: HMM can promote the formation of neovascularization of lumbar intervertebral disc, support the apoptosis of NP cells through Fas/FasL signaling, and regulate the degradation of extracellular matrix enzyme, which then accelerates the absorption of lumbar intervertebral disc herniation and the recovery of motor function in rats.
MeSH term(s)	Animals ; Caspase 3/metabolism ; Intervertebral Disc/pathology ; Intervertebral Disc Degeneration/pathology ; Intervertebral Disc Displacement/pathology ; Intervertebral Disc Displacement/therapy ; Moxibustion ; Rats ; Rats, Sprague-Dawley ; Signal Transduction ; Vascular Endothelial Growth Factor A/metabolism
Chemical Substances	Vascular Endothelial Growth Factor A ; Caspase 3 (EC 3.4.22.-)
Language	English
Publishing date	2022-07-23
Publishing country	United States
Document type	Journal Article ; Retracted Publication
ZDB-ID	2698540-8
ISSN	2314-6141 ; 2314-6133
ISSN (online)	2314-6141
ISSN	2314-6133
DOI	10.1155/2022/9172405
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Article ; Online: Wnt11 in regulation of physiological and pathological cardiac growth.

Halmetoja, Eveliina / Nagy, Irina / Szabo, Zoltan / Alakoski, Tarja / Yrjölä, Raisa / Vainio, Laura / Viitavaara, Eliina / Lin, Ruizhu / Rahtu-Korpela, Lea / Vainio, Seppo / Kerkelä, Risto / Magga, Johanna

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

2022 Volume 36, Issue 10, Page(s) e22544

Abstract: Wnt11 regulates early cardiac development and left ventricular compaction in the heart, but it is not known how Wnt11 regulates postnatal cardiac maturation and response to cardiac stress in the adult heart. We studied cell proliferation/maturation in ... ...

Abstract	Wnt11 regulates early cardiac development and left ventricular compaction in the heart, but it is not known how Wnt11 regulates postnatal cardiac maturation and response to cardiac stress in the adult heart. We studied cell proliferation/maturation in postnatal and adolescent Wnt11 deficient (Wnt11-/-) heart and subjected adult mice with partial (Wnt11+/-) and complete Wnt11 (Wnt11-/-) deficiency to cardiac pressure overload. In addition, we subjected primary cardiomyocytes to recombinant Wnt proteins to study their effect on cardiomyocyte growth. Wnt11 deficiency did not affect cardiomyocyte proliferation or maturation in the postnatal or adolescent heart. However, Wnt11 deficiency led to enlarged heart phenotype that was not accompanied by significant hypertrophy of individual cardiomyocytes. Analysis of stressed adult hearts from wild-type mice showed a progressive decrease in Wnt11 expression in response to pressure overload. When studied in experimental cardiac pressure overload, Wnt11 deficiency did not exacerbate cardiac hypertrophy or remodeling and cardiac function remained identical between the genotypes. When subjecting cardiomyocytes to hypertrophic stimulus, the presence of recombinant Wnt11 together with Wnt5a reduced protein synthesis. In conclusion, Wnt11 deficiency does not affect postnatal cardiomyocyte proliferation but leads to cardiac growth. Interestingly, Wnt11 deficiency alone does not substantially modulate hypertrophic response to pressure overload in vivo. Wnt11 may require cooperation with other noncanonical Wnt proteins to regulate hypertrophic response under stress.
MeSH term(s)	Animals ; Cardiomegaly/metabolism ; Cell Proliferation ; Heart/growth & development ; Mice ; Myocardium ; Myocytes, Cardiac/metabolism ; Wnt Proteins/genetics ; Wnt Proteins/metabolism
Chemical Substances	Wnt Proteins ; Wnt11 protein, mouse
Language	English
Publishing date	2022-09-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	639186-2
ISSN	1530-6860 ; 0892-6638
ISSN (online)	1530-6860
ISSN	0892-6638
DOI	10.1096/fj.202101856RRRR
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Article: Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

Zhang, Wen / Lin, Ruizhu / Lu, Zhikun / Sheng, Huiying / Xu, Yi / Li, Xiuzhen / Cheng, Jing / Cai, Yanna / Mao, Xiaojian / Liu, Li

Pediatric gastroenterology, hepatology & nutrition

2020 Volume 23, Issue 6, Page(s) 558–566

Abstract: Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in : Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and ... ...

Abstract	Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.
Language	English
Publishing date	2020-11-05
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	3032413-0
ISSN	2234-8840 ; 2234-8646
ISSN (online)	2234-8840
ISSN	2234-8646
DOI	10.5223/pghn.2020.23.6.558
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Article: Effect and Neuroimaging Mechanism of Electroacupuncture for Vascular Cognitive Impairment No Dementia: Study Protocol for a Randomized, Assessor-Blind, Controlled Clinical Trial.

Lin, Ruizhu / Huang, Jia / Xu, Jianfeng / Tao, Jing / Xu, Ying / Liu, Jiao / Liu, Weilin / Liang, Shengxiang / Yang, Minguang / Chen, Lidian

Evidence-based complementary and alternative medicine : eCAM

2020 Volume 2020, Page(s) 7190495

Abstract: Vascular cognitive impairment no dementia (VCIND) is likely to develop into vascular dementia (VD) without intervention. The clinical efficacy of electroacupuncture (EA) for VCIND has been previously demonstrated. However, the neuroimaging mechanism of ... ...

Abstract	Vascular cognitive impairment no dementia (VCIND) is likely to develop into vascular dementia (VD) without intervention. The clinical efficacy of electroacupuncture (EA) for VCIND has been previously demonstrated. However, the neuroimaging mechanism of EA for VCIND has not been elucidated clearly. This trial is designed to provide solid evidence for the efficacy and neuroimaging mechanism of EA treatment for patients with VCIND. This ongoing study is an assessor-blind, parallel-group, randomized controlled trial. 140 eligible subjects will be recruited from the General Hospital of Ningxia Medical University and randomized into either the electroacupuncture (EA) group or the control group (CG). All subjects will receive basic treatment, and participants in the CG will receive health education performed weekly. Except for basic treatment and health education, participants in the EA group will receive treatment 5 times per week for a total of 40 sessions over 8 weeks. The primary outcome in this study is Montreal Cognitive Assessment (MoCA), and the secondary outcomes are Auditory Verbal Learning Test (AVLT), Stroop color-naming condition (STROOP), Rey-Osterrieth Complex Graphics Testing, and resting-state functional magnetic resonance imaging (rs-fMRI). All of the outcome measures will be assessed at baseline and 8 weeks of intervention. The medical abstraction of adverse events will be done at each visit. The results of this trial will demonstrate the efficacy and neuroimaging mechanism of EA treatment for VCIND, thus supporting EA treatment as an ideal choice for VCIND treatment. The trial was registered at the Chinese Clinical Trial Registry on 28 July 2018 (ChiCTR1800017398).
Language	English
Publishing date	2020-02-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2171158-6
ISSN	1741-4288 ; 1741-427X
ISSN (online)	1741-4288
ISSN	1741-427X
DOI	10.1155/2020/7190495
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