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  1. Book ; Online: Update on Robotic Gastrointestinal Surgery

    Milone, Marco / Bianchi, Paolo Pietro

    2023  

    Keywords Medicine ; complete mesocolic excision ; robotic surgery ; right colectomy ; robotic distal pancreatectomy ; laparoscopic distal pancreatectomy ; spleen-preserving distal pancreatectomy ; minimally-invasive distal pancreatectomy ; systematic review ; meta-analysis ; rectal cancer ; total mesorectal excision (TME) ; transanal total mesorectal excision (TaTME) ; robotic ; robotic transanal total mesorectal excision (RTaTme) ; transanal surgery ; colorectal ; colorectal cancer ; laparoscopic ; learning curve ; minimally invasive gastrectomy ; robotic gastrectomy ; laparoscopic gastrectomy ; gastric cancer ; esophagectomy ; esophageal cancer ; open surgery ; robotic ventral rectopexy ; rectal prolapse ; pelvic organ prolapse treatment ; total mesorectal excision ; robotic low anterior resection ; conversion ; abdominal adhesions ; laparoscopic surgery ; robotic fundoplication ; laparoscopic fundoplication ; reflux ; hiatal hernia ; functional outcomes ; n/a
    Language English
    Size 1 electronic resource (166 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Publishing place Basel
    Document type Book ; Online
    Note English
    HBZ-ID HT030377024
    ISBN 9783036576787 ; 3036576789
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article: Robotic Gastrointestinal Surgery: State of the Art and Future Perspectives.

    Milone, Marco / Bianchi, Paolo Pietro

    Journal of personalized medicine

    2023  Volume 13, Issue 3

    Abstract: Since its inception, robotic surgery has made incredible progress and has undergone significant development in an extremely short period of time [ ... ]. ...

    Abstract Since its inception, robotic surgery has made incredible progress and has undergone significant development in an extremely short period of time [...].
    Language English
    Publishing date 2023-03-22
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2662248-8
    ISSN 2075-4426
    ISSN 2075-4426
    DOI 10.3390/jpm13030568
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: GDP-Mannose Pyrophosphorylase B (

    Chompoopong, Pitcha / Milone, Margherita

    Genes

    2023  Volume 14, Issue 2

    Abstract: GDP-mannose pyrophosphorylase B (GMPPB) is a cytoplasmic protein that catalyzes the formation of GDP-mannose. Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of α-dystroglycan (α-DG) and ultimately leads to ... ...

    Abstract GDP-mannose pyrophosphorylase B (GMPPB) is a cytoplasmic protein that catalyzes the formation of GDP-mannose. Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of α-dystroglycan (α-DG) and ultimately leads to disruptions of the link between α-DG and extracellular proteins, hence dystroglycanopathy. GMPPB-related disorders are inherited in an autosomal recessive manner and caused by mutations in either a homozygous or compound heterozygous state. The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to mild forms of limb-girdle muscular dystrophy (LGMD) to recurrent rhabdomyolysis without overt muscle weakness.
    MeSH term(s) Humans ; Acetylcholinesterase ; Mannose ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies/genetics ; Dystroglycans/metabolism ; Muscle Weakness
    Chemical Substances mannose 1-phosphate guanylyltransferase (EC 2.7.7.13) ; Acetylcholinesterase (EC 3.1.1.7) ; Mannose (PHA4727WTP) ; Dystroglycans (146888-27-9)
    Language English
    Publishing date 2023-01-31
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14020372
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Sporadic Late-Onset Nemaline Myopathy: Current Landscape.

    Nicolau, Stefan / Milone, Margherita

    Current neurology and neuroscience reports

    2023  Volume 23, Issue 11, Page(s) 777–784

    Abstract: Purpose of review: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM is the accumulation of nemaline rods ... ...

    Abstract Purpose of review: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM is the accumulation of nemaline rods in muscle fibers. We review here current knowledge about its presentation, pathophysiology, and management.
    Recent findings: SLONM usually manifests with subacutely progressive proximal and axial weakness, but it can also present with chronic progressive weakness mimicking muscular dystrophy. The pathophysiology of the disease remains poorly understood, with evidence pointing to both autoimmune mechanisms and hematological neoplasia. Recent studies have identified histological, proteomic, and transcriptomic alterations that shed light on disease mechanisms and distinguish SLONM from inherited nemaline myopathies. A majority of SLONM patients respond to intravenous immunoglobulins, chemotherapy, or hematopoietic stem cell transplant. SLONM is a treatable myopathy, although its underlying etiology and pathomechanisms remain unclear. A high degree of suspicion should be maintained for this disease to reduce diagnostic delay and treatment in SLONM and facilitate its distinction from inherited nemaline myopathies.
    MeSH term(s) Adult ; Humans ; Myopathies, Nemaline/diagnosis ; Myopathies, Nemaline/genetics ; Myopathies, Nemaline/therapy ; HIV Infections/complications ; Delayed Diagnosis ; Proteomics ; Monoclonal Gammopathy of Undetermined Significance/complications ; Monoclonal Gammopathy of Undetermined Significance/drug therapy ; Monoclonal Gammopathy of Undetermined Significance/pathology ; Muscle, Skeletal
    Language English
    Publishing date 2023-10-19
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2057363-7
    ISSN 1534-6293 ; 1528-4042
    ISSN (online) 1534-6293
    ISSN 1528-4042
    DOI 10.1007/s11910-023-01311-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5549: Show issues Location:
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  5. Article ; Online: Authors' reply to: "The long-term recurrence rate of minimally invasive methods in pilonidal sinus disease therapy is still unclear".

    Basso, L / Gallo, G / Milone, M / Pietroletti, R

    Techniques in coloproctology

    2022  Volume 26, Issue 2, Page(s) 159–160

    MeSH term(s) Humans ; Neoplasm Recurrence, Local ; Pilonidal Sinus/surgery ; Prospective Studies ; Skin Diseases ; Treatment Outcome
    Language English
    Publishing date 2022-01-07
    Publishing country Italy
    Document type Letter ; Comment
    ZDB-ID 2083309-X
    ISSN 1128-045X ; 1123-6337
    ISSN (online) 1128-045X
    ISSN 1123-6337
    DOI 10.1007/s10151-021-02559-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5842: Show issues Location:
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  6. Article ; Online: Atrial dimension reference values in healthy participants using the biplane/monoplane method for clinical and research use.

    Lupi, A / Angelone, R / Zinato, S / Milone, M / Vernuccio, F / Crimì, F / Quaia, E / Pepe, A

    Clinical radiology

    2024  Volume 79, Issue 5, Page(s) 393–398

    Abstract: Aim: To provide reference values of the dimensions of the left and right atrium (RA) obtained using the biplane and monoplane methods, respectively, on two- and four-chamber views, which represent the standard projections acquired in clinical practice, ... ...

    Abstract Aim: To provide reference values of the dimensions of the left and right atrium (RA) obtained using the biplane and monoplane methods, respectively, on two- and four-chamber views, which represent the standard projections acquired in clinical practice, and correlation with body surface area (BSA), age, and gender.
    Materials and methods: Healthy volunteers, M:F = 1:1, including five participants per gender and age decile from 20 to 70 years, who underwent cardiovascular magnetic resonance imaging (CMR) were enrolled prospectively. Normal atrial reference values were calculated for male and female subpopulations and stratified by age. Atrial areas and volumes were assessed both as absolute values and indexed to BSA. Differences among genders and correlation with age were assessed. Intra- and interobserver reproducibility were assessed in a subpopulation.
    Results: Fifty participants (mean age 43.3 ± 14 years, 25 men) were evaluated. Image analysis took <1 minute for each subject (mean time 30 ± 5 seconds). Intra- and interobserver reproducibility were excellent (ICC >0.85 for all datasets). RA areas were significantly higher in males (p=0.0001). The left atrial (LA) surface did not show significant differences among genders. Atrial areas normalised to BSA did not show significant gender differences. Both right and left absolute atrial volumes turned out to be significantly higher in males (p=0.0001 and p=0.0047, respectively), and normalised to BSA remained significantly different only for the RA (p=0.0006). Neither atrial volume nor areas showed significant correlation with age.
    Conclusions: The monoplane method is a fast and reproducible technique to assess atrial dimensions. Absolute atrial dimensions show significant variations among genders. Gender-specific reference ranges for atrial dimensions are recommended.
    MeSH term(s) Humans ; Male ; Female ; Adult ; Middle Aged ; Young Adult ; Aged ; Reference Values ; Healthy Volunteers ; Reproducibility of Results ; Heart Atria/diagnostic imaging ; Magnetic Resonance Imaging
    Language English
    Publishing date 2024-02-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 391227-9
    ISSN 1365-229X ; 0009-9260
    ISSN (online) 1365-229X
    ISSN 0009-9260
    DOI 10.1016/j.crad.2024.01.024
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Diagnosis and Management of Immune-Mediated Myopathies.

    Milone, Margherita

    Mayo Clinic proceedings

    2017  Volume 92, Issue 5, Page(s) 826–837

    Abstract: Immune-mediated myopathies (IMMs) are a heterogeneous group of acquired muscle disorders characterized by muscle weakness, elevated creatine kinase levels, and myopathic electromyographic findings. Most IMMs feature the presence of inflammatory ... ...

    Abstract Immune-mediated myopathies (IMMs) are a heterogeneous group of acquired muscle disorders characterized by muscle weakness, elevated creatine kinase levels, and myopathic electromyographic findings. Most IMMs feature the presence of inflammatory infiltrates in muscle. However, the inflammatory exudate may be absent. Indeed, necrotizing autoimmune myopathy (NAM), also called immune-mediated necrotizing myopathy, is characterized by a necrotizing pathologic process with no or minimal inflammation in muscle. The recent discovery of antibodies associated with specific subtypes of autoimmune myopathies has played a major role in characterizing these diseases. Although diagnostic criteria and classification of IMMs currently are under revision, on the basis of the clinical and muscle histopathologic findings, IMMs can be differentiated as NAM, inclusion body myositis (IBM), dermatomyositis, polymyositis, and nonspecific myositis. Because of recent developments in the field of NAM and IBM and the controversies around polymyositis, this review will focus on NAM, IBM, and dermatomyositis.
    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Antibodies, Blocking/therapeutic use ; Antibodies, Monoclonal/therapeutic use ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/drug therapy ; Biomarkers/blood ; Biopsy ; Creatine Kinase/blood ; Creatine Kinase/immunology ; Diagnosis, Differential ; Electromyography ; Humans ; Muscles/immunology ; Muscles/pathology ; Myositis/classification ; Myositis/diagnosis ; Myositis/drug therapy ; Myositis/immunology
    Chemical Substances Adrenal Cortex Hormones ; Antibodies, Blocking ; Antibodies, Monoclonal ; Biomarkers ; Creatine Kinase (EC 2.7.3.2) ; bimagrumab (N15SW1DIV8)
    Language English
    Publishing date 2017-05
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 124027-4
    ISSN 1942-5546 ; 0025-6196
    ISSN (online) 1942-5546
    ISSN 0025-6196
    DOI 10.1016/j.mayocp.2016.12.025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next-generation sequencing.

    Skolka, Michael P / Milone, Margherita / Litchy, William J / Laughlin, Ruple S / Rubin, Devon I / Liewluck, Teerin

    Muscle & nerve

    2024  

    Abstract: Introduction/aims: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the ... ...

    Abstract Introduction/aims: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy.
    Methods: EDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022. Each patient's clinical profile, EDX findings, muscle pathology, laboratory, and genetic testing results were analyzed.
    Results: Of 66 patients identified, 32 had myopathic electromyography (EMG). Muscle biopsy and genetic testing were performed in 41 and 37 patients, respectively. A definitive diagnosis was achieved in 15 patients (11 myopathic EMG and 4 nonmyopathic EMG; p = .04) based on abnormal muscle biopsy (4/11 patients) or genetic testing (12/12 patients, encompassing 5 patients with normal muscle biopsy and 3 patients with nonmyopathic EMG). These included seven metabolic and eight nonmetabolic myopathies (five muscular dystrophies and three ryanodine receptor 1 [RYR1]-myopathies). Patients were more likely to have baseline weakness (p < .01), elevated baseline CK (p < .01), and nonmetabolic myopathies (p = .03) when myopathic EMG was identified.
    Discussion: Myopathic EMG occurred in approximately half of patients with unprovoked rhabdomyolysis, more likely in patients with weakness and elevated CK at baseline. Although patients with myopathic EMG were more likely to have nonmetabolic myopathies, nonmyopathic EMG did not exclude myopathy, and genetic testing was primarily helpful to identify an underlying myopathy. Genetic testing should likely be first-tier diagnostic testing following unprovoked rhabdomyolysis.
    Language English
    Publishing date 2024-03-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.28087
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    Zs.MO 551: Show issues

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  9. Article ; Online: Characterization of isolated amyloid myopathy.

    Liewluck, T / Milone, M

    European journal of neurology

    2017  Volume 24, Issue 12, Page(s) 1437–1445

    Abstract: Background and purpose: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid ... ...

    Abstract Background and purpose: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis.
    Methods: We searched the Muscle Laboratory database to identify patients with pathologically confirmed amyloid myopathy seen in neurology clinics between January 1998 and September 2016. Patients with monoclonal gammopathy, peripheral neuropathy, organomegaly or symptoms or pathologic evidence of amyloid deposition outside skeletal muscle were classified as having systemic amyloidosis-associated myopathy.
    Results: Fifty-two patients were identified, including 14 with isolated amyloid myopathy (eight anoctaminopathy-5, two dysferlinopathy and four genetically unknown) and 38 with systemic amyloidosis (32 immunoglobulin light-chain amyloidosis, four familial amyloid polyneuropathy and two senile systemic amyloidosis). Compared with patients with systemic amyloidosis, patients with isolated amyloid myopathy had a younger age of onset (median, 41.5 vs. 65 years), no dysphagia (0% vs. 26%) or weight loss (0% vs. 26%), but more frequent calf atrophy (57% vs. 0%), small collections of inflammatory cells on muscle biopsy (43% vs. 0%) and asymptomatic hyperCKemia at onset (21% vs. 0%). All patients with isolated amyloid myopathy had creatine kinase (CK) values >2.5 times the upper limit of normal.
    Conclusions: Isolated amyloid myopathy accounts for 27% of patients with amyloid myopathy, mostly due to anoctaminopathy-5. There are various clinical and laboratory parameters that can help to differentiate isolated amyloid myopathy from systemic amyloidosis.
    Language English
    Publishing date 2017-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.13448
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    Zs.MO 592: Show issues

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  10. Article ; Online: Cancer-associated regional ischemic myopathy: a rare myopathy.

    Granger, Andre / Soontrapa, Pannathat / Klein, Christopher J / Milone, Margherita

    Neuromuscular disorders : NMD

    2023  Volume 33, Issue 10, Page(s) 790–791

    MeSH term(s) Humans ; Neoplasms ; Muscular Diseases/complications ; Muscular Diseases/diagnosis ; Muscle, Skeletal
    Language English
    Publishing date 2023-09-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2023.09.002
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