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  1. Article: Potential therapeutic role of pharmacological sympathectomy in Martorell ulcer.

    Baglivo, Mirko / Baronio, Manuela / Ngongan, Nina Arnelle Dieumo / Romagnoli, Stefano / De Gaudio, Raffaele / Bertelli, Matteo

    Postepy dermatologii i alergologii

    2022  Volume 38, Issue 6, Page(s) 1112–1114

    Language English
    Publishing date 2022-01-07
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 2596142-1
    ISSN 1642-395X
    ISSN 1642-395X
    DOI 10.5114/ada.2021.112282
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

    Baglivo, Mirko / Nasca, Alessia / Lamantea, Eleonora / Vinci, Stefano / Spagnolo, Manuela / Marchet, Silvia / Prokisch, Holger / Catania, Alessia / Lamperti, Costanza / Ghezzi, Daniele

    International journal of molecular sciences

    2023  Volume 24, Issue 16

    Abstract: Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON is mostly defined by the identification of three pathogenic variants in the mitochondrial DNA. Idebenone is widely used to ... ...

    Abstract Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON is mostly defined by the identification of three pathogenic variants in the mitochondrial DNA. Idebenone is widely used to treat LHON patients, but only some of them are responders to treatment. In our study, we assessed the maximal respiration rate (MRR) and other respiratory parameters in eight fibroblast lines from subjects carrying LHON pathogenic variants. We measured also the effects of idebenone treatment on cell growth and mtDNA amounts. Results showed that LHON fibroblasts had significantly reduced respiratory parameters in untreated conditions, but no significant gain in MRR after idebenone supplementation. No major toxicity toward mitochondrial function and no relevant compensatory effect in terms of mtDNA quantity were found for the treatment at the tested conditions. Our findings confirmed that fibroblasts from subjects harboring LHON pathogenic variants displayed impaired respiration, regardless of the disease penetrance and severity. Testing responsiveness to idebenone treatment in cultured cells did not fully recapitulate in vivo data. The in-depth evaluation of cellular respiration in fibroblasts is a good approach to evaluating novel mtDNA variants associated with LHON but needs further evaluation as a potential biomarker for disease prognosis and treatment responsiveness.
    MeSH term(s) Humans ; Optic Atrophy, Hereditary, Leber/drug therapy ; Optic Atrophy, Hereditary, Leber/genetics ; DNA, Mitochondrial/genetics ; Mitochondria/genetics ; Fibroblasts
    Chemical Substances idebenone (HB6PN45W4J) ; DNA, Mitochondrial
    Language English
    Publishing date 2023-08-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms241612580
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA

    Ghirigato, Elena / Terenzi, Francesca / Baglivo, Mirko / Zanetti, Nadia / Baldo, Francesco / Murru, Flora Maria / Bobbo, Marco / Barbi, Egidio / Zeviani, Massimo / Bruno, Irene / Lamantea, Eleonora

    Neuromuscular disorders : NMD

    2023  Volume 33, Issue 12, Page(s) 972–977

    Abstract: A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for ... ...

    Abstract A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for hyperlactatemia and metabolic acidosis after short physical activity. The muscle biopsy showed non-specific mitochondrial alterations and an increase in intrafibral lipids. Biochemical analysis showed reduced activity of the respiratory chain complexes. Mitochondrial DNA sequencing revealed the presence of a homoplasmic variant m.15992A>T in the MT-TP gene, coding for the mt-tRNA
    MeSH term(s) Male ; Humans ; Adolescent ; RNA, Transfer, Pro ; Muscle Fatigue ; Mastication ; Maternal Inheritance ; Mutation ; RNA, Transfer/genetics ; DNA, Mitochondrial/genetics ; Muscles
    Chemical Substances RNA, Transfer, Pro ; RNA, Transfer (9014-25-9) ; DNA, Mitochondrial
    Language English
    Publishing date 2023-11-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2023.11.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  4. Article ; Online: Potential therapeutic role of pharmacological sympathectomy in Martorell ulcer

    Mirko Baglivo / Manuela Baronio / Nina Arnelle Dieumo Ngongan / Stefano Romagnoli / Raffaele De Gaudio / Matteo Bertelli

    Advances in Dermatology and Allergology, Vol 38, Iss 6, Pp 1112-

    2022  Volume 1114

    Abstract: Martorell ulcer (MU) is a rare complication of arterial hypertension. It was first described in 1945 by the Spanish cardiologist Fernando Martorell, who reported 4 clinical cases [1]. A few cases of MU have been treated with pharmacological sympathectomy ...

    Abstract Martorell ulcer (MU) is a rare complication of arterial hypertension. It was first described in 1945 by the Spanish cardiologist Fernando Martorell, who reported 4 clinical cases [1]. A few cases of MU have been treated with pharmacological sympathectomy [2]. Here we report another small group of cases of MU treated in this manner. Sixteen patients with MU, aged 69 to 92 years, were selected. A precise diagnosis of MU was made by checking the Martorell diagnostic inclusion criteria: anterolateral site in the lower third of the leg, diastolic hypertension in the lower third of the leg, hyperpulsation of the arteries of the leg, absence of arterial calcification and other causes of the ulcer, possible presence of symmetrical lesions and stronger pain in the horizontal position [1].
    Keywords Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
    Language English
    Publishing date 2022-01-01T00:00:00Z
    Publisher Termedia Publishing House
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Genetic and physiological autonomic nervous system factors involved in failed back surgery syndrome: A review of the literature and report of nine cases treated with pulsed radiofrequency.

    Baronio, Manuela / Baglivo, Mirko / Natalini, Giuseppe / Notaro, Paolo / Dautaj, Astrit / Paolacci, Stefano / Bertelli, Matteo

    Acta bio-medica : Atenei Parmensis

    2020  Volume 91, Issue 13-S, Page(s) e2020020

    Abstract: Background and aim: failed back surgery syndrome is one of the most important causes of chronic low back pain that involve the physiology of autonomic nervous system factors. Some genetic and molecular factor can be determinant in the development of ... ...

    Abstract Background and aim: failed back surgery syndrome is one of the most important causes of chronic low back pain that involve the physiology of autonomic nervous system factors. Some genetic and molecular factor can be determinant in the development of failed back surgery syndrome and novel therapy are needed. Pulsed radiofrequency treatment could be an innovative treatment option for this syndrome.
    Methods: 44 patients classified with failed back surgery syndrome from the Poliambulanza Foundation Hospital of Brescia patients were treated with standard therapy for six months; 9 of these patients who showed no improvement were candidates for pulsed radiofrequency therapy for three months.
    Results and conclusions: reduction of lumbar and radicular pain, disability and number of drug classes prescribed improved significantly (p <0.001) in patients treated with pulsed radiofrequency compared to whom that follow only the standard therapy. The role of the nervous system is important for understanding how pulsed radiofrequency can improve the health of patients with back pain. We suggest that some genetic and molecular studies are needed for better understand the role of this therapy in back pain.
    MeSH term(s) Autonomic Nervous System ; Failed Back Surgery Syndrome/therapy ; Humans ; Low Back Pain/therapy ; Pulsed Radiofrequency Treatment ; Treatment Outcome
    Language English
    Publishing date 2020-11-09
    Publishing country Italy
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2114240-3
    ISSN 2531-6745 ; 0392-4203
    ISSN (online) 2531-6745
    ISSN 0392-4203
    DOI 10.23750/abm.v91i13-S.10533
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Electrical Stimulation in the Treatment of Lymphedema and Associated Skin Ulcers.

    Baglivo, Mirko / Martelli, Francesco / Paolacci, Stefano / Manara, Elena / Michelini, Sandro / Bertelli, Matteo

    Lymphatic research and biology

    2019  Volume 18, Issue 3, Page(s) 270–276

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Electric Stimulation Therapy ; Humans ; Lymph ; Lymphatic Vessels ; Lymphedema/complications ; Lymphedema/therapy ; Skin Ulcer/etiology ; Skin Ulcer/therapy
    Language English
    Publishing date 2019-11-20
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2147953-7
    ISSN 1557-8585 ; 1539-6851
    ISSN (online) 1557-8585
    ISSN 1539-6851
    DOI 10.1089/lrb.2019.0052
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5921: Show issues Location:
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  7. Article ; Online: CDH5

    Michelini, Sandro / Ricci, Maurizio / Amato, Bruno / Gentileschi, Stefano / Veselenyiova, Dominika / Kenanoglu, Sercan / Fiorentino, Alessandro / Kurti, Danjela / Baglivo, Mirko / Manara, Elena / Basha, Syed Hussain / Priya, Sasi / Krajcovic, Juraj / Dundar, Munis / Belgrado, Jean Paul / Dautaj, Astrit / Bertelli, Matteo

    Lymphatic research and biology

    2021  Volume 20, Issue 5, Page(s) 496–506

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Humans ; Endothelial Cells ; Genetic Testing ; Lymphedema/diagnostic imaging ; Lymphedema/genetics ; Cadherins/genetics ; High-Throughput Nucleotide Sequencing ; Lymphatic Abnormalities/genetics
    Chemical Substances Cadherins
    Language English
    Publishing date 2021-12-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2147953-7
    ISSN 1557-8585 ; 1539-6851
    ISSN (online) 1557-8585
    ISSN 1539-6851
    DOI 10.1089/lrb.2020.0089
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  8. Article ; Online: Possible Role of the

    Michelini, Sandro / Ricci, Maurizio / Serrani, Roberta / Stuppia, Liborio / Beccari, Tommaso / Veselenyiova, Dominika / Kenanoglu, Sercan / Barati, Shila / Kurti, Danjela / Baglivo, Mirko / Basha, Syed Hussain / Krajcovic, Juraj / Dundar, Munis / Bertelli, Matteo

    Lymphatic research and biology

    2020  Volume 19, Issue 2, Page(s) 129–133

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Lymphatic Abnormalities ; Lymphatic System ; Lymphedema/genetics ; Nuclear Receptor Subfamily 1, Group F, Member 3/genetics
    Chemical Substances Nuclear Receptor Subfamily 1, Group F, Member 3 ; RORC protein, human
    Language English
    Publishing date 2020-09-22
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2147953-7
    ISSN 1557-8585 ; 1539-6851
    ISSN (online) 1557-8585
    ISSN 1539-6851
    DOI 10.1089/lrb.2020.0030
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    In stock of ZB MED Cologne/Königswinter

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  9. Article ; Online: Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels.

    Baglivo, Mirko / Dassati, Sarah / Krasi, Geraldo / Fanelli, Francesca / Kurti, Danjela / Bonelli, Andrea / Arabia, Gianmarco / Fabbicatore, Davide / Muneretto, Claudio / Bertelli, Matteo

    Acta bio-medica : Atenei Parmensis

    2019  Volume 90, Issue 10-S, Page(s) 53–57

    Abstract: Atrial septal defect is a persistent interatrial communication. It is the second most common congenital heart defect and is detected in 1:1500 live births. Clinical course is variable and depends on the size of the malformation. Clinical diagnosis is ... ...

    Abstract Atrial septal defect is a persistent interatrial communication. It is the second most common congenital heart defect and is detected in 1:1500 live births. Clinical course is variable and depends on the size of the malformation. Clinical diagnosis is based on patient history, physical and instrumental examination. Atrial septal defect is frequently sporadic, but familial cases have been reported. The disease has autosomal dominant inheritance with reduced penetrance, variable expressivity and genetic heterogeneity. Supravalvular aortic stenosis is a congenital narrowing of the lumen of the ascending aorta. It has an incidence of 1:20000 newborns and a prevalence of 1:7500. Clinical diagnosis is based on patient history, physical and instrumental examination. Supravalvular aortic stenosis is either sporadic or familial and has autosomal dominant inheritance with reduced penetrance and variable expressivity. It is associated with mutations in the ELN gene. Syndromes predisposing to aneurysm of large vessels is a group of inherited disorders that may affect different segments of the aorta. They may occur in isolation or associated with other genetic syndromes. Clinical symptoms are highly variable. Familial thoracic aortic aneurysm and dissection accounts for ~20% of all cases of aneurysms. The exact prevalence is unknown. Clinical diagnosis is based on medical history, physical and instrumental examination. Genetic testing is useful for confirming diagnosis of these syndromes and for differential diagnosis, recurrence risk evaluation and prenatal diagnosis in families with a known mutation. Most syndromes predisposing to aneurysm of large vessels have autosomal dominant inheritance with reduced penetrance and variable expressivity.
    MeSH term(s) Aneurysm/diagnosis ; Aneurysm/genetics ; Aortic Stenosis, Supravalvular/diagnosis ; Aortic Stenosis, Supravalvular/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Heart Septal Defects, Atrial/diagnosis ; Heart Septal Defects, Atrial/genetics ; High-Throughput Nucleotide Sequencing ; Humans
    Language English
    Publishing date 2019-09-30
    Publishing country Italy
    Document type Journal Article ; Review
    ZDB-ID 2114240-3
    ISSN 2531-6745 ; 0392-4203
    ISSN (online) 2531-6745
    ISSN 0392-4203
    DOI 10.23750/abm.v90i10-S.8760
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  10. Article ; Online: TIE1

    Michelini, Sandro / Ricci, Maurizio / Veselenyiova, Dominika / Kenanoglu, Sercan / Kurti, Danjela / Baglivo, Mirko / Fiorentino, Alessandro / Basha, Syed Hussain / Priya, Sasi / Serrani, Roberta / Krajcovic, Juraj / Dundar, Munis / Dautaj, Astrit / Bertelli, Matteo

    International journal of molecular sciences

    2020  Volume 21, Issue 18

    Abstract: TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to ...

    Abstract TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the
    MeSH term(s) Aged ; Amino Acid Sequence ; Chromosomes, Human, Pair 1/genetics ; Computer Simulation ; Female ; Genetic Association Studies ; Genetic Testing ; Humans ; Italy ; Lymphangiogenesis/genetics ; Lymphatic Abnormalities/genetics ; Lymphedema/genetics ; Male ; Middle Aged ; Models, Molecular ; Mutation ; Pedigree ; Protein Conformation ; Receptor, TIE-1/genetics ; Receptor, TIE-1/physiology ; Retrospective Studies ; Sequence Alignment ; Young Adult
    Chemical Substances Receptor, TIE-1 (EC 2.7.10.1) ; TIE1 protein, human (EC 2.7.10.1)
    Language English
    Publishing date 2020-09-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms21186780
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