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1.
Metab Brain Dis ; 38(6): 1905-1912, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37097439

RESUMEN

BACKGROUND: The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype description of a cluster of five Southern Italy families. METHODS: Family pedigrees of five index males with the p.Phe113Leu variant were obtained and all at-risk relatives underwent biochemical and genetical screening test. Carriers of GLA p.Phe113Leu variant underwent subsequent multidisciplinary clinical and instrumental evaluation. RESULTS: Thirty-one (16 M, 15 F) individuals with p.Phe113Leu pathogenic variant were identified. Sixteen out of 31 patients (51.6%) had cardiac manifestations. Notably, myocardial fibrosis was found in 7/8 patients, of whom 2 were under 40 years. Stroke occurred in 4 patients. White matter lesions were detected in 12/19 patients and occurred in 2/10 of subjects under 40 years. Seven females complained of acroparesthesias. Renal involvement occurred in 10 patients. Angiokeratomas were evident in 9 subjects. Eyes, ear, gastrointestinal and pulmonary involvement occurred in the minority of subjects. CONCLUSION: This study demonstrates that a cluster of subjects with p.Phe113Leu pathogenic variant is also present in Southern Italy. Disease manifestations are frequent in both sexes and may occur early in life. Cardiac involvement represents the core manifestation, but neurological and renal involvement is also frequent, suggesting that extra-cardiac complications deserve clinical attention.


Asunto(s)
Enfermedad de Fabry , Accidente Cerebrovascular , Femenino , Humanos , Masculino , alfa-Galactosidasa/genética , Enfermedad de Fabry/epidemiología , Enfermedad de Fabry/genética , Heterocigoto , Fenotipo , Accidente Cerebrovascular/genética
2.
Metab Brain Dis ; 37(8): 3023-3026, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36178639

RESUMEN

Fabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type. We here describe the clinical characteristics of a patient with late-onset Fabry disease carrying a not previously identified GLA gene variant. This 50-year-old man came to hospital because of an acute ischemic stroke. He also complained of acroparesthesia and had angiokeratomas in the nape and the back. Blood alpha-galactosidase A activity was low, plasmatic lyso-Gb3 level was borderline, cardiac MRI showed cardiac fibrosis, brain MRI documented cerebrovascular disease, and skin biopsy revealed small fiber neuropathy without globotriaosylceramide-3 skin deposits. Genetic study by means of targeted next-generation sequencing analysis disclosed a missense substitution c.1139C>T (p.Pro380Leu) in the GLA gene. We suggest that this novel variant should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.


Asunto(s)
Enfermedad de Fabry , Accidente Cerebrovascular Isquémico , Masculino , Humanos , alfa-Galactosidasa/genética , Enfermedad de Fabry/genética , Galactosidasas/genética , Fenotipo , Mutación
3.
J Clin Med ; 12(9)2023 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-37176593

RESUMEN

Herein, we describe a 54-year-old patient with a congenital ventricular diverticulum (CVD), referred to our emergency department for presyncope episodes and multiple re-entrant ventricular tachycardias (VT). Significantly, echocardiographic findings were not clear, and the diagnosis was made by cardiac magnetic resonance imaging (CMRI), which showed the presence of an apical accessory cavity connected to the ventricle and contracting synchronously. CMRI allowed the differential diagnosis with other outpouching cardiac defects. The patient underwent a subcutaneous implantable cardioverter defibrillator (S-ICD) implant and was referred for heart transplantation (HT). The diagnosis, treatment, and main findings of the CVD are discussed in this case report.

4.
Radiol Case Rep ; 17(3): 450-454, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34950272

RESUMEN

Benign ganglioneuroma contains mature autonomous ganglion cells, including satellite cells and long axonal processes, as well as Schwann cells, which come from neural crest-derived cells that form the adrenal medulla and sympathetic nervous system during embryonic development and is a rare benign tumor which occurs spontaneously and can also occur during radiotherapy or chemotherapy, accounting for 0.72% -1.6% of primary retroperitoneal tumors, commonly found in the posterior mediastinum and retroperitoneum, and affected patients usually have no symptoms due to of its non-functional feature, although several complications can arise if the tumor is large enough to press against adjacent organs.

5.
Expert Opin Biol Ther ; 22(3): 407-421, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34463175

RESUMEN

INTRODUCTION: Chimeric antigen receptor (CAR)-T-cell therapy is a new treatment for patients with hematologic malignancies in which other therapies have failed. AREAS COVERED: The review provides an overview for recognizing and managing the most acute toxicities related to CAR-T cells. EXPERT OPINION: The development of immune-mediated toxicities is a common challenge of CAR-T therapy. The mechanism that determines this toxicity is still unclear, although an unfavorable tumor microenvironment and a pro-inflammatory state put patients at risk. The monitoring, diagnosis, and treatment of post-CAR-T toxicities must be determined and based on international guidelines and internal clinical practice. It is urgent to identify biomarkers that can identify patients at greater risk of developing complications. The adoption of consistent grading criteria is necessary to improve toxicity management strategies continually. The first-line therapy consists of supportive care and treatment with tocilizumab or corticosteroids. An early start of cytokine blockade therapies could mitigate toxicity. The plan will include cytokine release prophylaxis, a risk-adapted treatment, prevention of on-target/off-tumor effect, and a switch on/off CAR-T approach.


Asunto(s)
Neoplasias Hematológicas , Receptores Quiméricos de Antígenos , Neoplasias Hematológicas/terapia , Humanos , Inmunoterapia Adoptiva/efectos adversos , Grupo de Atención al Paciente , Linfocitos T , Microambiente Tumoral
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