Review
Biochemistry & Molecular Biology
Siarhei A. Dabravolski, Varvara A. Orekhova, Mirza S. Baig, Evgeny E. Bezsonov, Antonina Starodubova, Tatyana Popkova, Alexander N. Orekhov
Summary: Diabetes mellitus and related disorders are closely related to mitochondrial dysfunction. Specific types of mitochondrial diabetes, such as MIDD and DAD, have been identified. Mutations in mitochondrial DNA cause hereditary mitochondrial disorders, with tissue-specific phenotypes depending on the level of heteroplasmy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Roseanne O. Yeung, Mohammad Al Jundi, Sriram Gubbi, Maria E. Bompu, Sandra Sirrs, Mark Tarnopolsky, Fady Hannah-Shmouni
Summary: Mitochondrial disorders affecting energy metabolism can lead to mitochondrial diabetes, which accounts for up to 3% of all diabetes mellitus cases. This type of diabetes may resemble type 1 or type 2 diabetes and can rarely present with diabetic ketoacidosis. It is characterized by multi-organ involvement, maternal transmission, and later-onset diagnosis.
JOURNAL OF DIABETES AND ITS COMPLICATIONS
(2021)
Review
Medicine, Research & Experimental
Xin Chen, Yanan Ji, Ruiqi Liu, Xucheng Zhu, Kexin Wang, Xiaoming Yang, Boya Liu, Zihui Gao, Yan Huang, Yuntian Shen, Hua Liu, Hualin Sun
Summary: Mitochondria play crucial roles in maintaining cellular homeostasis and skeletal muscle health. Dysfunctional mitochondria can lead to skeletal muscle atrophy with complex molecular mechanisms. Understanding the pathogenesis of mitochondrial dysfunction is important for preventing and treating muscle atrophy, and finding ways to target and modulate mitochondrial function is urgent in this aspect.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Medicine, General & Internal
Ram C. Subedi, Raju Paudel, Sharma Paudel, Lekhjung Thapa, Subash Phuyal, Naresh Kharbuja, Ayush Adhikari
Summary: MELAS is a rare neurodegenerative inherited disorder characterized by stroke-like episodes, seizures, endocrine, and multiple system involvement. It is important to consider it as a differential diagnosis in a young patient with stroke-like episodes as it is progressive and has multiple complications.
ANNALS OF MEDICINE AND SURGERY
(2023)
Article
Clinical Neurology
Dong-hua Chen, Wei Li, Hai-shan Jiang, Chao Yuan
Summary: This case report describes a 30-year-old female patient who presented with recurrent proximal weakness in the lower extremities. After a series of tests and examinations, she was diagnosed with mitochondrial disorder and showed significant improvement after the corresponding treatment.
FRONTIERS IN NEUROLOGY
(2023)
Article
Endocrinology & Metabolism
Constant L. F. Hendrix, Frederik M. A. van den Heuvel, Laura Rodwell, Janneke Timmermans, Robin Nijveldt, Mirian C. H. Janssen, Christiaan G. J. Saris
Summary: This study evaluated the cardiac phenotype of a large Dutch cohort of patients with primary mitochondrial disease (MD) and found that ECG alone is insufficient to detect structural cardiac abnormalities.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Medical Laboratory Technology
Liuchun Yang, Qinxian Guo, Jianhang Leng, Keyi Wang, Yu Ding
Summary: In a large Chinese family, 6 matrilineal subjects with diabetes were found to possibly have pathogenic mitochondrial RNA mutations, while no functional mutations were found in nuclear genes. This suggests that mt-RNA mutation screening may be useful for the molecular diagnosis and prevention of mitochondrial diabetes.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Loredana Storelli, Elisabetta Pagani, Patrizia Pantano, Claudia Piervincenzi, Gioacchino Tedeschi, Antonio Gallo, Nicola De Stefano, Marco Battaglini, Maria A. Rocca, Massimo Filippi, INNI Network
Summary: This study compared different methods for measuring whole-brain and gray matter atrophy using the INNI dataset, and found that SPM-v12 and Jim-v8 software showed significant agreement in assessing gray matter volumes and atrophy progression.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Genetics & Heredity
Chiara Pizzamiglio, Enrico Bugiardini, William L. Macken, Cathy E. Woodward, Michael G. Hanna, Robert D. S. Pitceathly
Summary: Diagnosis of MELAS is crucial for affected individuals and their relatives as it allows early initiation of appropriate treatment and genetic counseling, but is often challenging, especially during the acute phase of an event.
Article
Geriatrics & Gerontology
Chandrakala Aluganti Narasimhulu, Dinender K. Singla
Summary: This study reveals that cellular pyroptosis induced by high blood sugar and inflammation is a key mechanism in diabetic muscle dysfunction, with BMP-7 showing therapeutic potential. It provides new insights into the treatment of diabetic myopathy.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Genetics & Heredity
Noriko Oishi, Daiki Kubota, Kenji Nakamoto, Yukito Takeda, Mika Hayashi, Kiyoko Gocho, Kunihiko Yamaki, Tsutomu Igarashi, Hiroshi Takahashi, Shuhei Kameya
Summary: Maternally inherited diabetes and deafness (MIDD) is caused by a heteroplasmic m.3243A>G mutation in the mitochondrial DNA. This study utilized multimodal high-resolution imaging analyses to identify the phenotypical characteristics of a 39-year-old patient with MIDD, confirming macular dystrophy and sensorineural hearing loss together with diabetes mellitus. Imaging and genetic analyses revealed photoreceptor degeneration and chorioretinal atrophy mainly in the perifoveal region, with the m.3243A>G mutation present at specific heteroplasmy levels in the patient's DNA.
OPHTHALMIC GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Ashfaque A. A. Memon, Sakshi Vats, Jan Sundquist, Yanni Li, Kristina Sundquist
Summary: This article discusses the role of mtDNA-CN in diabetes and cancer, reviews the literature and methodology used in published studies, and speculates on how mtDNA-CN may act as a link between diabetes and cancer. Further research is needed to elucidate the association between mtDNA-CN and cancer in T2D patients. Lifestyle interventions that improve mitochondrial function may help prevent cancer in patients with T2D.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Biochemistry & Molecular Biology
Hiroki Kobayashi, Hideyuki Hatakeyama, Haruna Nishimura, Mutsumi Yokota, Sadafumi Suzuki, Yuri Tomabechi, Mikako Shirouzu, Hiroyuki Osada, Masakazu Mimaki, Yu-ichi Goto, Minoru Yoshida
Summary: Mitochondrial DNA mutations cause mitochondrial diseases, leading to various phenotypic abnormalities in cells. A small-molecule compound called tryptolinamide (TLAM) was discovered to activate mitochondrial respiration and rescue defects in neuronal differentiation in iPSCs with a high ratio of mutant mtDNA by inhibiting PFK1 and promoting AMPK-mediated fatty-acid oxidation. TLAM redirects carbon flow from glycolysis to the pentose phosphate pathway to enhance anti-oxidative potential. These findings suggest that PFK1 could be a potential therapeutic target for mitochondrial diseases.
NATURE CHEMICAL BIOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Albert Pons-Escoda, Alonso Garcia-Ruiz, Clemente Garcia-Hidalgo, Ruben Gil-Solsona, Pablo Naval-Baudin, Teodoro Martin-Noguerol, Alejandro Fernandez-Coello, Susanie Flores-Casaperalta, Montserrat Fernandez-Vinas, Pablo Gago-Ferrero, Laura Oleaga, Raquel Perez-Lopez, Carles Majos
Summary: This study aims to provide new insights on the perfusion patterns of adult intra-axial cerebellar tumors through MR dynamic susceptibility contrast perfusion-weighted imaging (DSC-PWI) and explore the potential of DSC-PWI in their presurgical discrimination. The study included 68 patients and demonstrated significant differences in DSC-PWI signatures among different tumor types. The combination of perfusion metrics through data analysis showed excellent accuracy in discriminating these tumors.
EUROPEAN RADIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Wenxin Tang, Yansong Li, Shuxuan He, Tao Jiang, Nan Wang, Mengyu Du, Bo Cheng, Wei Gao, Yan Li, Qiang Wang
Summary: This study suggests that ferroptosis promotes the progression of diabetes-associated cognitive dysfunction (DACD) and supports the correlation between ferroptosis and DACD in type 2 diabetes mellitus (T2DM). The results provide new insights into the potential antioxidant effects of ferroptosis inhibitors and cav-1 on DACD.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Oncology
Memoli Victoria, Bannier Marie, Rey Dominique, Alleaume Caroline, Ben Diane Marc-Karim, Mancini Julien, Lauzier Sophie, Bouhnik Anne-Deborah
Summary: The study based on data from the national French cancer cohort VICAN found that older women and those with inadequate health literacy were less likely to undergo breast reconstruction (BR). BR was associated with better long-term physical quality of life, while immediate breast reconstruction (IBR) was associated with better mental quality of life.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Clement Magnani, Allan Ben Smith, Dominique Rey, Aline Sarradon-Eck, Marie Preau, Marc-Karim Bendiane, Anne-Deborah Bouhnik, Julien Mancini
Summary: This study aimed to estimate the prevalence of fear of cancer recurrence (FCR) in young women diagnosed with a good-prognosis cancer 5 years after diagnosis. The results showed that nearly 20% of female long-term survivors experienced moderate/severe FCR. Factors associated with FCR included cancer-related treatment sequelae, fatigue, anxiety, breast cancer or melanoma (versus thyroid cancer), and occasional consultation with a general practitioner.
JOURNAL OF CANCER SURVIVORSHIP
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Helene Martel, Arnaud Rique, Chiara Piazzai, Julien Mancini, Robinson Gravier Dumonceau, Florent Arregle, Alexandra Dernys, Alienor Gardenat, Sebastien Renard, Karine N'Guyen, Gilbert Habib
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2023)
Article
Computer Science, Information Systems
Rajae Touzani, Emilien Schultz, Stephanie Vandentorren, Pierre Arwidson, Francis Guillemin, Anne-Deborah Bouhnik, Alexandra Rouquette, Julien Mancini
Summary: This study estimated the proportion of users of the TousAntiCovid app and identified factors associated with its non-use for contact tracing in France. Among 1,000 respondents, 63.3% had never downloaded the app, 23.5% used it for contact tracing. Reasons for not enabling contact tracing included excessive battery consumption and fear of personal data misuse. Trust in political representatives, financial deprivation, and other factors were associated with never downloading the app.
INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS
(2023)
Article
Health Care Sciences & Services
Rajae Touzani, Elodie Dembele, Emilien Schultz, Alexandra Rouquette, Lorene Sequin, Jean -Charles Dufour, Marie Bannier, Julien Mancini
Summary: The study aimed to understand the perception among the general population in France regarding the usefulness of video recording/broadcasting and mobile health apps for medical consultations during the COVID-19 health crisis. The majority of respondents considered mobile health apps useful, while a smaller percentage considered video recording/broadcasting to be useful. Factors associated with perceived usefulness included younger age, trust in political representatives, and higher health literacy. It is important to consider these perceptions to ensure accessibility and benefits for all.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2023)
Article
Acoustics
Maud Regouin, Julien Mancini, Antoine Lafouge, Pierre Mace, Nathalie Fontaine, Stephanie Roussin, Jimmy Guichard, Coralie Dumont, Edwin Quarello
Summary: The objective of this study was to define quality criteria for fetal LVOT assessment and to evaluate the impact of implementing these criteria on practice. The study found that LVOT pictures were present in over 94.3% of reports, and there was no significant change in practice following the introduction of the quality criteria.
JOURNAL OF ULTRASOUND IN MEDICINE
(2023)
Meeting Abstract
Oncology
J. Mancini
Article
Oncology
Anne-Laure Couderc, Anne-Deborah Bouhnik, Dominique Rey, Marc-Karim Bendiane, Laurent Greillier, Eillier Nouguerede, Ariane Pille, Coline Montegut, Frederique Rousseau, Patrick Villani, Julien Mancini
Summary: This study aimed to describe the quality of life of lung cancer survivors five years after diagnosis, comparing older survivors (aged 70 or above) with younger ones, and identifying factors associated with poorer long-term quality of life in both age groups. The results showed that physical and mental factors had a greater impact on the quality of life of older survivors, while younger survivors were more influenced by factors such as gender, cancer metastasis, neuropathic pain, and breathing difficulties.
Article
Public, Environmental & Occupational Health
Martin Breyton, Emilien Schultz, Allan 'Ben' Smith, Alexandra Rouquette, Julien Mancini
Summary: This study assessed the psychometric properties of the Coronavirus Information Overload scale (CovIO) and explored its relationships with predictors and health behaviors related to COVID-19. The CovIO scale showed satisfactory properties and was significantly linked to education, health literacy, and trust in institutions among other variables. A negative relationship between information overload and preventive behaviors was observed.
PATIENT EDUCATION AND COUNSELING
(2023)
Article
Public, Environmental & Occupational Health
Emilien Schultz, Julien Mancini, Jeremy K. Ward
Summary: Conflicts of interests in health and medicine have been a topic of public debate for a long time. While there has been analysis of policies regulating the relationships between medical researchers and private corporations, little attention has been given to how the public defines and uses the label of conflict of interest. This article explores the French public's perception of conflict of interest for medical researchers through a questionnaire survey, and identifies three main groups with different conceptions of what constitutes a conflict of interest.
SOCIAL SCIENCE & MEDICINE
(2023)
Letter
Radiology, Nuclear Medicine & Medical Imaging
Kawtar Debbi, Amine Bouachba, Julien Mancini, Lucile Tuchtan, Joana De Jesus Neves, Guillaume Gorincour
DIAGNOSTIC AND INTERVENTIONAL IMAGING
(2023)
Article
Obstetrics & Gynecology
Lea Morello, Julien Mancini, Xavier Carcopino
Summary: Objectives: To identify predictive factors of the absence of high-grade intraepithelial lesion (HGSIL) in cervical excisional therapy specimen. Methods: Retrospective analysis of data from 835 women who underwent excisional therapy for a cervical intraepithelial lesion at two university hospitals. Results: Factors significantly associated with the absence of HGSIL on cervical excisional specimen included age over 40 years, a small abnormal transformation zone (TZ), and the result of the cervical biopsy not showing HGSIL. Referral cytology and colposcopic impression did not have a significant impact. Conclusion: The result of cervical biopsy is the key risk factor for the absence of HGSIL on excisional specimen, with age over 40 and a small abnormal TZ as additional risk factors.
JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION
(2023)
Article
Cardiac & Cardiovascular Systems
Amedeo Anselmi, Jacques Tomasi, Marie Aymami, Julien Mancini, Nicolas Nesseler, Thierry Langanay, Erwan Flecher, Jean-Philippe Verhoye
Summary: This study investigated the long-term durability of the Epic bioprosthesis for surgical aortic valve replacement (SAVR) and found that it has excellent durability and low rates of adverse valve-related events.
JOURNAL OF CARDIOVASCULAR MEDICINE
(2023)
Article
Medicine, General & Internal
Marie-Anne Durand, Marie Bannier, Marie-Anastasie Aim, Julien Mancini
Summary: The purpose of this study is to improve outcomes for women of lower socioeconomic position after a diagnosis of early-stage breast cancer. The study adapted two pictorial conversation aids for use in France and implemented them in a regional cancer center. The conversation aids were found to be usable and acceptable by health professionals and patients, but time constraints hindered recruitment of surgeons to use the aids during their consultations.
PATIENT PREFERENCE AND ADHERENCE
(2023)
Article
Oncology
Agnes Tallet, Dominique Rey, Clemence Casanova, Delphine Lecourtois, Marie Bergeaud, Marc-Karim Bendiane, Julien Mancini
Summary: This qualitative study explored the perspectives of physicians on intraoperative radiotherapy (IORT) as a de-escalation option for older women with low-risk early breast cancer. The study found divergent opinions among physicians, with some fully supporting IORT, some opposing it, and others having a reserved or neutral opinion. The divergent opinions were related to treatment efficacy, duration, side effects, psychological impact, compliance, logistical issues, cost, and availability of alternative treatment techniques, indicating a need for further efforts to promote patient-centered care.