RESUMO
Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections. Irrespective of age and severity, the treatment is feasible, accessible, and replicable provided that there is a multidisciplinary team having experience and training in SMA.
Assuntos
Prestação Integrada de Cuidados de Saúde , Atrofia Muscular Espinal/tratamento farmacológico , Fármacos Neuroprotetores/administração & dosagem , Oligonucleotídeos/administração & dosagem , Adolescente , Criança , Pré-Escolar , Prestação Integrada de Cuidados de Saúde/métodos , Família , Geografia Médica , Humanos , Lactente , Injeções Espinhais , Atrofia Muscular Espinal/complicações , Atrofia Muscular Espinal/diagnóstico , Fármacos Neuroprotetores/efeitos adversos , Oligonucleotídeos/efeitos adversos , Equipe de Assistência ao Paciente , Pacientes Desistentes do Tratamento , Escoliose/complicações , Escoliose/diagnóstico por imagem , Punção Espinal , Coluna Vertebral/diagnóstico por imagemRESUMO
The purpose of the study was to determine if abdomen/pelvis computed tomography (CT) can be safety omitted in the initial staging of a subgroup of children affected by Hodgkin Lymphoma (HL). Every participating center of A.I.E.O.P (Associazione Italiana di Ematologia ed Oncologia Pediatrica) sent local staging reports of 18F-fluorodeoxyglucose positron emission tomography (PET) and abdominal ultrasound (US) along with digital images of staging abdomen/pelvis CT to the investigation center where the CT scans were evaluated by an experienced pediatric radiologist. The local radiologist who performed the US was unaware of local CT and PET reports (both carried out after US), and the reviewer radiologist examining the CT images was unaware of local US, PET and CT reports. A new abdominal staging of 123 patients performed on the basis of local US report, local PET report, and centralized CT report was then compared to a simpler staging based on local US and PET. No additional lesion was discovered by CT in patients with abdomen/pelvis negativity in both US and PET or isolated spleen positivity in US (or US and PET), and so it seems that in the initial staging, abdomen/pelvis CT can be safety omitted in about 1/2 to 2/3 of children diagnosed with HL.
Assuntos
Abdome/patologia , Doença de Hodgkin/diagnóstico por imagem , Doença de Hodgkin/patologia , Pelve/patologia , Tomografia Computadorizada por Raios X , Feminino , Humanos , Linfonodos/patologia , Masculino , Imagem Multimodal , Estadiamento de Neoplasias , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia por Emissão de Pósitrons , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodosAssuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 8/genética , Isocromossomos/genética , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Doença Aguda , Adolescente , Dosagem de Genes , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , MasculinoRESUMO
The WT1 gene plays a crucial role in urogenital and gonadal development. Germline WT1 alterations have been described in a wide spectrum of pathological conditions, including kidney diseases, genital abnormalities and Wilms tumor (WT), frequently occurring in combination. We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. Although the majority of congenital urogenital abnormalities are not due to constitutional defects of the WT1 gene, our findings provide a rational for considering WT1 mutational analysis as one of the screening options in newborns with congenital defects of the urogenital tract due to the associated high risk of WT.