scholarly journals Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 85 ◽  
Author(s):  
Valentina Pegoraro ◽  
Corrado Angelini
Keyword(s):  
Phenotypic Expression ◽  
Prognostic Indicator ◽  
Muscle Disease ◽  
Control Group ◽  
Muscle Loss ◽  
Early Disease ◽  
Muscle Mri ◽  
Disease Evolution ◽  
Over Expression ◽  
Girdle Muscle

Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous conditions, presenting with a wide clinical spectrum, leading to progressive proximal weakness caused by loss of muscle fibers. MiR-206 is a member of myomiRNAs, a group of miRNAs with important function in skeletal muscle. Our aim is to determine the value of miR-206 in detecting muscle disease evolution in patients affected by LGMD. We describe clinical features, disease history and progression of eleven patients affected by various types of LGMD: transportinopathy, sarcoglycanopathy and calpainopathy. We analyzed the patients’ mutations and we studied the circulating miR-206 in serum by qRT-PCR; muscle MRI was done with a 1.5 Tesla apparatus. The severe evolution of disease type is associated with the expression levels of miR-206, which was significantly elevated in our LGMD patient cohort in comparison with a control group. In particular, we observed an over-expression of miR-206 that was 50–80 folds elevated in two patients with a severe and early disease course in the transportinopathy and calpainopathy sub-types. The functional impairment was observed clinically and muscle loss and atrophy documented by muscle MRI. This study provides the first evidence that miR-206 is associated with phenotypic expression and it could be used as a prognostic indicator of LGMD disease progression.

Retinol, α-Tocopherol and Vitamin D3 in White MuscleDisease

2018 ◽  
Vol 74 (1) ◽  
pp. 6029-2018
Author(s):  
HANDAN MERT ◽  
SERKAN YİLDİRİM ◽  
IBRAHİM HAKKİ YORUK ◽  
KİVANC IRAK ◽  
BAHAT COMBA ◽  
...  
Keyword(s):  
Vitamin A ◽  
Vitamin D3 ◽  
White Muscle ◽  
Bone Structure ◽  
Early Stage ◽  
Vitamin A Deficiency ◽  
Muscle Disease ◽  
Control Group ◽  
White Muscle Disease ◽  
Fat Soluble Vitamins

Vitamins are essential for the health of all living organisms. Vitamins E, A, D and K are known as fat-soluble vitamins, and deprivation of vitamin E causes various disorders, especially in the reproduction and cardiovascular systems and in muscle functions. Vitamin A, on the other hand, has roles in various biological functions – like eyesight – and the growth, reproduction and differentiation of epithelial cells. Vitamin A deficiency leads to the keratinization of the epithelium, and disorders related to the metaplasies of the genital and genitourinary systems. Conversely, vitamin D is defined as a pro-hormone and is responsible for Cahomeostasis, and thus indirectly affects the bone metabolism, bone structure, and cellular and neural functions of Ca. White muscle disease (WMD) can occur in newborn lambs, but is more commonly seen in lambs of up to 3 months of age. In this study, 30 lambs of 3 to 50-days-old from different flocks diagnosed with White Muscle Disease (WMD) were selected as research material, while the control group consisted of 8 healthy lambs. With the aim of clarifying the cause of WMD, serum fat-soluble vitamins, retinol, α-tocopherol and vitamin D3 levels were determined in 16 lambs. Gluteal and heart musclet issue samples also were taken from 30 lambs with WMD. The vitamin levels of the samples were analysed by HPLC. The levels of serum α-tocopherol, retinols, and vitamin D3 were foundto be low in the diseased animals, but only retinol (p<0.001) and α-tocopherol (p<0.0011) level differences were statistically relevant. Macroscopically, Zenker’s necrosis was determined in the heart muscles of 17 lambs, and in the gluteal and chest muscles of 6 lambs. 7 lambs displayed necrosis in both their heart and in gluteal muscles. The samples were analyzed microscopically to reach similar findings: swollen homogeneous pink muscles, pycnotic nuclei, and hyperaemic and haemorrhagic blood vessels in gluteal, chest and heart muscles. Hyaline degeneration and Zenker's necrosis, dystrophic regions in necrotic areas, cc was detected as a severe disease in lambs at an early stage of life with advanced degeneration in different muscle tissues. Deficiency of fat-soluble vitamins was also detected in the sick animals. Control group lambs had higher levels of α tocopherol and retinol (p<0.001) compared to the sick lambs. .

scholarly journals MicroRNA-513b-5p targets COL1A1 and COL1A2 associated with the formation and rupture of intracranial aneurysm

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zheng Zheng ◽  
Yan Chen ◽  
Yinzhou Wang ◽  
Yongkun Li ◽  
Qiong Cheng
Keyword(s):  
Cell Death ◽  
Intracranial Aneurysm ◽  
Luciferase Reporter Assay ◽  
Luciferase Reporter ◽  
Control Group ◽  
Type I ◽  
Mrna Levels ◽  
Reporter Assay ◽  
Over Expression ◽  
Tnf Α

AbstractCollagen-type I alpha 1 chain (COL1A1) and COL1A2 are abnormally expressed in intracranial aneurysm (IA), but their mechanism of action remains unclear. This study was performed to investigate the mechanism of COL1A1 and COL1A2 affecting the occurrence and rupture of IA. Quantitative real-time polymerase chain reaction was used to measure the expression of hsa-miR-513b-5p, COL1A1, COL1A2, TNF-α, IL-6, MMP2, MMP3, MMP9 and TIMP4 in patients with ruptured IA (RA) (n = 100), patients with un-ruptured IA (UA) (n = 100), and controls (n = 100). Then, human vascular smooth muscle cells (HASMCs) were cultured, and dual luciferase reporter assay was performed to analyse the targeting relationship between miR-513b-5p and COL1A1 or COL1A2. The effects of the miR-513b-5p mimic and inhibitor on the proliferation, apoptosis, and death of HASMC and the RIP1-RIP3-MLKL and matrix metalloproteinase pathways were also explored. The effect of silencing and over-expression of COL1A1 and COL1A2 on the role of miR-513b-5p were also evaluated. Finally, the effects of TNF-α on miR-513b-5p targeting COL1A1 and COL1A2 were tested. Compared with those in the control group, the serum mRNA levels of miR-513b-5p, IL-6 and TIMP4 were significantly decreased in the RA and UA groups, but COL1A1, COL1A2, TNF-α, IL-1β, MMP2, MMP3 and MMP9 were significantly increased (p < 0.05). Compared with those in the UA group, the expression of COL1A1, COL1A2, TNF-α, IL-1β and MMP9 was significantly up-regulated in the RA group (p < 0.05). Results from the luciferase reporter assay showed that COL1A1 and COL1A were the direct targets of miR-513b-5p. Further studies demonstrated that miR-513b-5p targeted COL1A1/2 to regulate the RIP1-RIP3-MLKL and MMP pathways, thereby enhancing cell death and apoptosis. Over-expression of COL1A1 or COL1A2, rather than silencing COL1A1/2, could improve the inhibitory effect of miR-513b-5p on cell activity by regulating the RIP1-RIP3-MLKL and MMP pathways. Furthermore, over-expression of miR-513b-5p and/or silencing COL1A1/2 inhibited the TNF-α-induced cell proliferation and enhanced the TNF-α-induced cell death and apoptosis. The mechanism may be related to the inhibition of collagen I and TIMP4 expression and promotion of the expression of RIP1, p-RIP1, p-RIP3, p-MLKL, MMP2 and MMP9. MiR-513b-5p targeted the inhibition of COL1A1/2 expression and affected HASMC viability and extracellular mechanism remodelling by regulating the RIP1-RIP3-MLKL and MMP pathways. This process might be involved in the formation and rupture of IA.

Immune and Antioxidant Enzyme Response of Longfin Yellowtail (Seriola rivoliana) Juveniles to Ultra-diluted Substances Derived from Phosphorus, Silica and Pathogenic Vibrio

Homeopathy ◽  
2018 ◽  
Vol 108 (01) ◽  
pp. 043-053 ◽  
Author(s):  
José Mazón-Suástegui ◽  
Joan Salas-Leiva ◽  
Andressa Teles ◽  
Dariel Tovar-Ramírez
Keyword(s):  
Quantitative Polymerase Chain Reaction ◽  
Polymerase Chain Reaction Analysis ◽  
Antioxidant Response ◽  
Culture Conditions ◽  
Control Group ◽  
Sod Activity ◽  
Over Expression ◽  
Pathogenic Vibrio ◽  
Low Concentrations ◽  
Mother Tincture

Background This research aimed to observe the effect of homeopathic treatments prepared from Vibrio parahaemolyticus and V. alginolyticus (H1) and commercial homeopathic medication Phosphoricum acidum and Silicea terra (H2) on the immune and antioxidant response in Seriola rivoliana juveniles under usual culture conditions and challenged with V. parahaemolyticus. Materials and Methods Quantitative polymerase chain reaction analysis was used to study changes in the expression of key genes related to immune response, cytokines (interleukin-1β [IL-1β]), adapter protein for cytokine release (MyD88) and piscidin and spectrophotometric techniques to analyze the activity of antioxidant superoxide dismutase (SOD) and catalase (CAT) enzymes in Seriola rivoliana juveniles at 30 (weaning stage [WS]) and 60 (early juveniles [EJ]) days post-hatching. Results The H1 treatment led to over-expression of the IL-1β and MyD88 genes in fish at WS and EJ with respect to control, contrary to the H2 treatment that led to under-expression of the IL-1β, MyD88 and piscidin genes at the EJ stage. In fish challenged with V. parahaemolyticus, both H1 and H2 led to over-expression of IL-1β and MyD88; H2 caused an over-expression of piscidin. The SOD activity was higher in H1 with respect to H2 and the control group. CAT remained relatively stable with both H1 and H2 treatments. Conclusions The results suggest that the overall effect of H1 was due to the presence of unknown antigens in low concentrations, while the response to H2—specifically during challenge—may have been due to a stimulating effect of nano-structures, prevailing from mother tincture after sequential dilution/succussion, in a pathway similar to that attributed to nano-vaccines.

Investigating platelet-activating factor as a potent proinflammatory mediator in coronary atherosclerotic patients

2021 ◽  
Vol 67 (3) ◽  
pp. 1-4
Author(s):  
Shler Ghafoor Raheem
Keyword(s):  
Coronary Atherosclerosis ◽  
Platelet Activating Factor ◽  
Density Lipoprotein ◽  
High Sensitivity ◽  
Prognostic Indicator ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Surgical Specialty ◽  
Significant Difference ◽  
Hs Crp

The inflammatory reaction is one of the complications in patients with coronary atherosclerosis. This study aimed to determine the diagnostic value of platelet-activating factor (PAF) compared with high sensitivity C reactive protein (hs-CRP) in coronary atherosclerotic patients. Fifty patients with coronary atherosclerosis and 30 subjects with normal angiography were considered as the control group attending Cardiac Center-Surgical Specialty Hospital - in Erbil city / Iraq. The levels of PAF and hs-CRP were estimated quantitatively using a sandwich enzyme-linked immunosorbent assay and a particle-enhanced immune turbid metric assay, respectively. Lipid profiles and some hematological indexes were also used in this study. The levels of the inflammatory biomarkers of PAF and hs-CRP increased significantly in the patients group compared with controls (p<0.05). Although the patients group showed the highest level of low-density lipoprotein (LDL), the difference was not significant (p>0.05) compared with the healthy control. However, the incidence of risk factors such as smoking and obesity showed a significant difference (p<0.05) in the patients group. Additionally, the PAF level correlated positively and significantly with hs-CRP (p<0.05), and negatively with high-density lipoprotein (HDL) (p>0.05). Although hs-CRP was a valuable diagnostic marker for coronary atherosclerosis, the PAF level showed to be a better prognostic indicator than hs-CRP in coronary atherosclerosis patients.

scholarly journals Adult MTM1-related myopathy carriers

Neurology ◽  
2019 ◽  
Vol 93 (16) ◽  
pp. e1535-e1542 ◽  
Author(s):  
Benjamin T. Cocanougher ◽  
Lauren Flynn ◽  
Pomi Yun ◽  
Minal Jain ◽  
Melissa Waite ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Pulmonary Function Tests ◽  
Muscle Disease ◽  
Muscle Mri ◽  
Abnormal Signal ◽  
Ambulatory Status ◽  
Clinical Center ◽  
Neurogenetic Disorders ◽  
Independent Ambulation ◽  
Phenotypic Classification

ObjectiveTo better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1). Neuromuscular examinations, muscle MRI, dynamic breathing MRI, cardiac MRI, pulmonary function tests (PFTs), physical therapy assessments including the Motor Function Measure 32 (MFM-32) scale, and X chromosome inactivation (XCI) studies were performed.ResultsPhenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.ConclusionThis work illustrates the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.

scholarly journals Anti-Proliferative Effects of HBX-5 on Progression of Benign Prostatic Hyperplasia

Molecules ◽  
2018 ◽  
Vol 23 (10) ◽  
pp. 2638 ◽  
Author(s):  
Bo-Ram Jin ◽  
Hyo-Jung Kim ◽  
Sang-Kyun Park ◽  
Myoung-Seok Kim ◽  
Kwang-Ho Lee ◽  
...  
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Prostatic Hyperplasia ◽  
Nuclear Antigen ◽  
Control Group ◽  
Over Expression ◽  
Alternative Medicines ◽  
Androgenic Hormone ◽  
Vitro Model ◽  
Proliferating Cell

Benign prostatic hyperplasia (BPH), an age-dependent disorder with a prevalence percentage of 60% in the 60s, has been found to involve an androgenic hormone imbalance that causes confusion between cell apoptosis and proliferation. Because general medications for BPH treatment have undesirable side effects, the development of effective alternative medicines has been considered. HBX-5 is a newly developed formula with the aim of improving BPH, and is composed of nine medicinal herbs. BPH was induced in the rats by intramuscular injection of testosterone propionate after castration. Rats were divided into six groups, and the efficacy of HBX-5 on testosterone-induced BPH in rats was estimated. In addition, RWPE-1 and WPMY-1 cells were used to demonstrate the effect of HBX-5 on BPH in vitro model. Compared with the control group, HBX-5 administration group suppressed BPH manifestations, such as excessive development of prostate, and increase of serum dihydrotestosterone and 5α-reductase concentrations. Furthermore, immunohistochemistry analysis revealed that HBX-5 significantly decreased the expression of androgen receptor (AR) and proliferating cell nuclear antigen (PCNA). In addition, results of RWPE-1 and WPMY-1 cells showed that HBX-5 inhibited the over-expression of AR and PSA in DHT-induced prostate hyperplastic microenvironments.

A pilot study of a combined intervention for management of juvenile primary fibromyalgia symptoms in adolescents in an inpatient psychiatric unit

2011 ◽  
Vol 23 (3) ◽  
Author(s):  
Karen Lommel ◽  
Anuja Bandyopadhyay ◽  
Catherine Martin ◽  
Shweta Kapoor ◽  
Leslie Crofford
Keyword(s):  
Intervention Group ◽  
Well Being ◽  
Muscle Disease ◽  
Comfort Level ◽  
Control Group ◽  
Affective States ◽  
Primary Fibromyalgia ◽  
Objective Evidence ◽  
Primary Fibromyalgia Syndrome ◽  
Combined Intervention

Abstract Background: Juvenile primary fibromyalgia syndrome (JPFS) is a chronic condition characterized by widespread musculoskeletal pain and discrete tender points with no objective evidence of a muscle disease but with disordered central pain processing. Very little is known about the prevalence and treatment on inpatient psychiatric units. Objective: The purpose of this study was to determine the effect of an intervention for JPFS in adolescent females admitted to a psychiatric hospital. Methods: In total, 30 patients with JPFS were assigned to either the intervention (n=15) or control group (n=15). The intervention group attended a fibromyalgia seminar followed by an audio-guided total body relaxation exercise. The control group participated in a seminar on skin care. Both groups completed a visual analog scale for affective states and somatic sensations before and after the seminar. Results: Participants in the intervention group, but not the control group, demonstrated significant improvement in concentration, self-confidence, restfulness and comfort level (p<0.001 to p<0.05). They also reported a reduction in stress level, muscle tightness, stomach upset and feeling down (p<0.001 to p<0.05) immediately after the intervention. Conclusions: This study provides evidence that a combined intervention can be used in the inpatient psychiatric setting to improve functioning and overall well-being of patients with comorbid psychiatric disorders and JPFS during acute hospitalization.

c-erbB-3 proto-oncogene expression in uterine cervical carcinoma

1995 ◽  
Vol 5 (4) ◽  
pp. 282-285 ◽  
Author(s):  
C. R. Hunt ◽  
R. J. Hale ◽  
C. Armstrong ◽  
T. Rajkumar ◽  
W. J. Gullick ◽  
...  
Keyword(s):  
Epidermal Growth Factor Receptor ◽  
Immunohistochemical Study ◽  
Growth Factor Receptor ◽  
Prognostic Indicator ◽  
Lymph Node Status ◽  
Uterine Cervical Carcinoma ◽  
Over Expression ◽  
Cervical Carcinomas ◽  
Epidermal Growth ◽  
Worse Prognosis

Over-expression of epidermal growth factor receptor (EGFR) andc-erbB-2, in uterine cervical carcinomas, is associated with a worsened prognosis. A third member of this proto-oncogene family,c-erbB-3, has now been identified and its over-expression has been described in a variety of carcinomas. In this immunohistochemical study we have shown thatc-erbB-3 is widely expressed in cervical carcinomas, but we have found no association between its over-expression and lymph node status or clinical outcome. In a similar study examining the expression of EGFR andc-erbB-2 it was possible to demonstrate an association between over-expression and a worse prognosis. We conclude, therefore, that it is unlikely that demonstration ofc-erbB-3 over-expression will be of any value as a prognostic indicator in carcinoma of the uterine cervix.

scholarly journals Validation of Chemokine Biomarkers in Duchenne Muscular Dystrophy

Life ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 827
Author(s):  
Michael Ogundele ◽  
Jesslyn S. Zhang ◽  
Mansi V. Goswami ◽  
Marissa L. Barbieri ◽  
Utkarsh J. Dang ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Early Stage ◽  
Wild Type Mouse ◽  
Muscle Disease ◽  
Mdx Mouse ◽  
Control Group ◽  
P Value ◽  
Glucocorticoid Treatment

Duchenne muscular dystrophy (DMD) is a progressive muscle disease involving complex skeletal muscle pathogenesis. The pathogenesis is triggered by sarcolemma instability due to the lack of dystrophin protein expression, leading to Ca2+ influx, muscle fiber apoptosis, inflammation, muscle necrosis, and fibrosis. Our lab recently used two high-throughput multiplexing techniques (e.g., SomaScan® aptamer assay and tandem mass tag-(TMT) approach) and identified a series of serum protein biomarkers tied to different pathobiochemical pathways. In this study, we focused on validating the circulating levels of three proinflammatory chemokines (CCL2, CXCL10, and CCL18) that are believed to be involved in an early stage of muscle pathogenesis. We used highly specific and reproducible MSD ELISA assays and examined the association of these chemokines with DMD pathogenesis, age, disease severity, and response to glucocorticoid treatment. As expected, we confirmed that these three chemokines were significantly elevated in serum and muscle samples of DMD patients relative to age-matched healthy controls (p-value < 0.05, CCL18 was not significantly altered in muscle samples). These three chemokines were not significantly elevated in Becker muscular dystrophy (BMD) patients, a milder form of dystrophinopathy, when compared in a one-way ANOVA to a control group but remained significantly elevated in the age-matched DMD group (p < 0.05). CCL2 and CCL18 but not CXCL10 declined with age in DMD patients, whereas all three chemokines remained unchanged with age in BMD and controls. Only CCL2 showed significant association with time to climb four steps in the DMD group (r = 0.48, p = 0.038) and neared significant association with patients’ reported outcome in the BMD group (r = 0.39, p = 0.058). Furthermore, CCL2 was found to be elevated in a serum of the mdx mouse model of DMD, relative to wild-type mouse model. This study suggests that CCL2 might be a suitable candidate biomarker for follow-up studies to demonstrate its physiological significance and clinical utility in DMD.

scholarly journals SUN-076 Somatic and Neurodevelopmental Outcome and Muscle Tone in 5 to 9 Year Old Children Born After Intracytoplasmic Sperm Injection

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Marta Snajderova ◽  
Josef Kraus ◽  
Daniela Zemkova ◽  
Tonko Mardesic
Keyword(s):  
Motor Development ◽  
Intracytoplasmic Sperm Injection ◽  
Muscle Tone ◽  
Neurodevelopmental Outcome ◽  
Control Group ◽  
Special Focus ◽  
Proximal Muscle ◽  
Neurological Development ◽  
Muscle Hypotonia ◽  
Girdle Muscle

Abstract Introduction: Assessing the development and health status of children born after assisted reproductive techniques is very important. This also applies to somatic and neurological development. Little is known on the development of muscle tone in children. Aim of our study was to evaluate the somatic and neurological development in children born after intracytoplasmic sperm injection (ICSI) with special focus on proximal muscle tone. Material and methods: A group of 82 singletons (ICSI) aged 5–9 years (42 M, 40 F) and a control group of 82 singletons spontaneously conceived (SC), all with low morbidity, were compared by age and sex. Comprehensive assessment by endocrinologist, clinical anthropologist and pediatric neurologist was performed. Results: Both ICSI and SC children had normal somatic development. In the standard neurological testing, motor development did not differ significantly in ICSI children compared with the general population. Nevertheless, some coordination abnormalities tested by diadochokinesis and by the finger-nose test, were found in all but 7 ICSI children (ICSI in 91 % versus SC in 9 %; p&lt;0.001). A prominent hypotonia of upper girdle muscles tested by the scarf sign was found in all but 4 ICSI children (ICSI in 95 % versus SC in 61 %; p&lt;0.001). In the contrary, no difference was found for lower girdle muscle tone in ICSI versus SC children. Any of the factors tested for possible relationship to upper girdle muscle hypotonia was not found to be significant. Conclusions: As far as we know, this study is the first evaluation of proximal muscle tone in ICSI children aged 5 - 9 years. Subtle changes in the neurological status were revealed comparing ICSI and SC children, i. e. the prominent upper girdle muscle hypotonia and the coordination changes. The hypotonia can be explained by a slight change in the muscle tone maturation and movement coordination. The ICSI method very likely does not have any negative effect on the neurodevelopmental outcome of children. Nevertheless, the development of muscle tone and coordination in ICSI children should be monitored. Early diagnosis of these abnormalities helps to early initiation of appropriate therapy and thus avoids possible complications.

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