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  1. Article ; Online: Rhabdomyolysis after Intravenous Ferric Gluconate: A Case Report.

    Botti, Mara / Piperno, Alberto / Cianflone, Annalia / Mariani, Raffaella

    European journal of case reports in internal medicine

    2022  Volume 9, Issue 4, Page(s) 3325

    Abstract: Patients with severe iron deficiency, malabsorption or intolerance to oral iron are frequently treated with intravenous iron replacement. We report the case of a 42-year-old woman with non-erosive oligoarticular arthritis with antiparietal cell ... ...

    Abstract Patients with severe iron deficiency, malabsorption or intolerance to oral iron are frequently treated with intravenous iron replacement. We report the case of a 42-year-old woman with non-erosive oligoarticular arthritis with antiparietal cell antibodies and iron deficiency anemia secondary to menorrhagia and unresponsive to oral iron preparations. She was treated with an intravenous infusion of ferric gluconate. After the first infusion of 125 mg (in 250 mL saline), she developed transient pain in her knee and wrist joints. When the dose was subsequently halved, the patient showed no adverse symptoms in the next four infusions and had normalized hemoglobin levels and iron indices. However, after a subsequent 125 mg ferric gluconate infusion she developed severe leg pain, muscular and joint stiffness, and functional impairment of her hands, right foot, and ankle. Laboratory tests showed a progressive increase in creatine kinase, transaminase, and C-reactive protein that normalized several days after the infusion. Although rhabdomyolysis is not reported among endovenous iron-induced adverse events, our findings suggest that intravenous iron infusions might have increased free iron generation promoting oxidative joint and muscular injury, which would explain the joint pain and stiffness, and rhabdomyolysis. Greater attention should be paid to the more frequent cases of myalgia occurring after iron infusion, which may underlie a rhabdomyolytic event requiring clinical observation.
    Learning points: Rhabdomyolysis can occur not only after intramuscular injection of iron dextran but also after infusion of ferric gluconate.The generation of increased free iron following iron administration can promote oxidative joint and muscular injury.Leg cramps and myalgia, which are relatively common adverse events after iron infusions, might represent undiagnosed events of mild to moderate rhabdomyolysis requiring further investigation.
    Language English
    Publishing date 2022-04-21
    Publishing country Italy
    Document type Journal Article
    ISSN 2284-2594
    ISSN (online) 2284-2594
    DOI 10.12890/2022_003325
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

    Bertolini, Anna / Rigoldi, Miriam / Cianflone, Annalia / Mariani, Raffaella / Piperno, Alberto / Canonico, Francesco / Cefalo, Graziella / Carubbi, Francesca / Simonati, Alessandro / Urban, Maria Letizia / Beccari, Tommaso / Parini, Rossella

    Clinical dysmorphology

    2023  Volume 33, Issue 1, Page(s) 1–8

    Abstract: Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 ... ...

    Abstract Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 years) of nine patients with alpha-mannosidosis, three females and six males, followed at a single center. The findings of the nine patients were collected from medical records and reported as mean ± SD or median, and range. The age of onset of the first symptoms ranged from 0-1 to 10 years. The diagnostic delay ranged from 2 to 22 years (median= 11 years). Coarse face, hearing, heart valves, joints, gait, language, dysarthria, psychiatric symptoms, I.Q., MRI, walking disabilities, orthopedic disturbances and surgeries showed a slow worsening over the decades. Our patients showed a slowly worsening progressive outcome over the decades. Psychiatric symptoms were present in 100% of our population and improved with the appropriate pharmacological intervention. This aspect requires attention when following up on these patients. Our description of the long-term evolution of alpha-mannosidosis patients may provide basic knowledge for understanding the effects of specific treatments.
    MeSH term(s) Male ; Female ; Humans ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; alpha-Mannosidosis/diagnosis ; Delayed Diagnosis ; Mental Disorders ; Inheritance Patterns ; Italy/epidemiology
    Language English
    Publishing date 2023-11-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000474
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and

    Trevisan, Lucia / Grazzini, Matteo / Cianflone, Annalia / Accogli, Andrea / Finocchi, Cinzia / Capello, Elisabetta / Saitta, Laura / Grandis, Marina / Roccatagliata, Luca / Mandich, Paola

    Neurocase

    2021  Volume 27, Issue 6, Page(s) 452–456

    Abstract: Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy . The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of ... ...

    Abstract Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy . The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of acute neurological deterioration after stress conditions.We report a 52-year-old man with VWMD and atypical features who manifested two major events of transient aphasia eleven years apart with complete recovery in 48 hours. No cognitive decline was present. Brain MRI revealed typical aspects of VWMD including diffuse leukoencephalopathy with relative sparing of U-fibers. We identified the presence of c.592G>A (p.Glu198Lys) and c.1360 C>T (p.Pro454Ser) mutations in
    MeSH term(s) Adult ; Eukaryotic Initiation Factor-2B/genetics ; Humans ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/genetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; White Matter/diagnostic imaging
    Chemical Substances EIF2B5 protein, human ; Eukaryotic Initiation Factor-2B
    Language English
    Publishing date 2021-11-09
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1302651-3
    ISSN 1465-3656 ; 1355-4794
    ISSN (online) 1465-3656
    ISSN 1355-4794
    DOI 10.1080/13554794.2021.1999984
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

    Ruscitti, Federica / Trevisan, Lucia / Rosti, Giulia / Gotta, Fabio / Cianflone, Annalia / Geroldi, Alessandro / Origone, Paola / Pichiecchio, Anna / Viglio, Simona / Iascone, Maria / Mandich, Paola

    Molecular genetics & genomic medicine

    2021  Volume 9, Issue 9, Page(s) e1753

    Abstract: Background: Vascular Ehlers-Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS) due to an increased risk of ... ...

    Abstract Background: Vascular Ehlers-Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS) due to an increased risk of spontaneous artery or organ rupture. vEDS has an extremely heterogeneous presentation and muscle rupture is considered a minor diagnostic criterium.
    Methods: A patient with a long history of inconclusive examinations and investigations was referred to our unit. The clinical picture was mainly characterized by muscle ruptures, whereas the cardiovascular involvement was limited to mitral regurgitation. We performed a panel analysis of genes associated with inheritable heart diseases using the TruSight Cardio kit (Illumina). A skin biopsy was then performed for functional studies to analyze the different forms of collagen molecules produced in vitro by cutaneous fibroblasts.
    Results: The patient presented the novel variant c.3478A>G (p.Ile1160Val) in COL3A1 (NM_000090.3), whose pathogenicity was supported by biochemical analysis of type III collagen.
    Conclusion: In this report, we describe a case of vEDS with predominant and severe musculoskeletal involvement. Our findings provide insight into genetic variants and clinical expression of vEDS, broadening the clinical scenario of the syndrome.
    MeSH term(s) Adult ; Collagen Type III/genetics ; Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/pathology ; Humans ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mutation ; Phenotype
    Chemical Substances COL3A1 protein, human ; Collagen Type III
    Language English
    Publishing date 2021-07-28
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1753
    Database MEDical Literature Analysis and Retrieval System OnLINE

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