1,721,015 research outputs found
Dal pubarca a una sindrome genetica: Diagnosi di una malattia rara
No full textL’articolo riporta il caso di una bambina di 2 anni che presenta pubarca, ipertrofia clitoridea e seborrea del cuoio capelluto. Storia clinica comune e nessun sintono anormale evidenziato all’esame fisico. Cariotipo 46XX nella norma. A causa della presenza di pubarca e virilizzazione, sono stati effettuati i dosaggi degli ormoni sessuali e surrenali: riscontrati alti livelli di ormoni maschili (DHEA-S, testosterone e androstenedione), mentre gli ormoni surrenali risultavano nella norma. I livelli normali di 17-idrossi-progresterone permettono di escludere una iperplasia surrenale congenita non-classica. L’ipotesi più probabile è che si tratti di un tumore virilizzante ed in particolare, a causa dell’innalzamento dei livelli di DHEA-S, di un tumore surrenale. Ecografia e TAC addominale hanno confermato la diagnosi; non sono state rilevati metastasi dalla TAC e dalla scintigrafia ossea. Dato il rischio di rottura intra-addominale della massa tumorale con conseguente disseminazione cellulare, la bambina è stata sottoposta a intervento chirurgico di asportazione ed è stato eseguito l’esame istologico del carcinoma surrenale. I carcinomi surrenali sono rari in età pediatrica e sono spesso correlati con mutazioni del gene che codifica la proteina p53, legato alla sindrome di Li-Fraumeni (SLF). Per questo motivo, tutti i pazienti pediatrici con carcinoma surrenale vengono sottoposti ad analisi genetiche per escludere la SLF, anche in assenza di familiarità. Le analisi genetiche hanno confermato la mutazione del gene TP53 nella bambina, nel padre e nel fratello. LA SLF è una rara sindrome autosomica dominante, caratterizzata da un elevato rischio di sviluppare tumori in età precoce (sarcomi ossei e dei tessuti molli, carcinoma del surrene, carcinoma della mammella, carcinoma dei plessi coroidali, leucemie e linfomi): per questo motivo la bambina e i familiari interessati dalla mutazione saranno sottoposti a controlli clinici e radiologici periodici, per escludere l’insorgere di ulteriori neoplasie
Pseudomonas aeruginosa Pyomyositis in a Child With Acute Lymphoblastic Leukemia: A Case Report and Review of Literature
Get PDFWe report the case of an 11-year-old girl with a recent diagnosis of common B-cell acute lymphoblastic leukemia who presented with Pseudomonas aeruginosa pyomyositis of the left lower limb during severe neutropenia associated with the induction phase of chemotherapy
Pazopanib-Induced Zebra Hair Depigmentation
No full textA 17-year-old boy with relapsed thoracic synovial sarcoma was prescribed pazopanib (starting dose 800 mg/d) as adjuvant therapy following successful surgical reintervention. During the following weeks, the boy’s brown hair and eyebrows gradually became white (in their newly growing part), a side-effect of pazopanib
A boy with sudden headache
No full textHeadache is a common presenting complaint in pediatric emergency departments. The goal of emergent evaluation is to identify those children with potentially life-threatening conditions. We present the case of an adolescent boy presenting with headache and hypertension who was diagnosed with a catecholamine-secreting abdominal paraganglioma. Genetic testing eventually led to the diagnosis of SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Alarm features ("red flags") in children presenting with headache are reviewed, as well as the main features of paragangliomas and the indications for genetic testing
Myositis ossificans mimicking sarcoma: a not so rare bioptic diagnostic pitfall
Get PDFMyositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO is supposed to be an osteoblast metaplasia with a benign and self-limiting course. Remarkably, at onset MO can be clinically, radiologically and histologically indistinguishable to soft tissue malignancies, especially in cases lacking a history of trauma, leading to misdiagnoses and improper treatments
Primary pulmonary Hodgkin's disease and tuberculosis in an 11-year-old boy: case report and review of the literature
No full textTuberculosis (TB) has been described in association with different malignancies including Hodgkin's disease. However, the association with primary pulmonary Hodgkin's disease (PPHD) is hardly reported in literature and in teenage is quite exceptional. We report a case of an 11 years old boy in whom the diagnosis of tuberculosis preceded and delayed the diagnosis of PPHL
Feasibility of a SERS-based point-of-care for therapeutic drug monitoring:the case of methotrexate
No full textTo date, in spite of their toxicity, the plasmatic concentration of most chemotherapeutic drugs is difficult to monitor
in oncological patients, because their quantitative determination is expensive and time consuming. Surface enhanced Raman spectroscopy (SERS) coupled with multivariate statistical analysis is fast becoming a promising analytical tool for point-of-care applications in Therapeutic Drug Monitoring (TDM) [1]. In comparison with standard methods (Gas or Liquid Chromatography coupled with Mass Spectroscopy), it has the remarkable advantages of rapidity, simplicity, low cost, and no need for sample pretreatment.
A recent work by our group reported a first attempt for the direct quantitative determination of a chemotherapeutic drug in human serum samples by means of SERS [2]. In this study, SERS substrates constituted by Au nanoparticles deposited on paper by a simple dipping method have been used for rapid (few minutes) analysis of diluted human serum spiked with different concentrations of methotrexate (MTX), a folate antagonist widely used
for treatment of various neoplastic diseases in children, and one of the very few chemotherapeutic drugs routinely monitored in most treatment centers. The drug concentrations were chosen in a range designed to cover typical therapeutic plasmatic values(from nanomolar to millimolar) in oncological patients, and a complete methodology was implemented for developing the proposed method. The pertinent calibration was obtained by Partial Least-
Squares Regression (PLSR), and the influence of the preprocessing methods on the prediction speed, robustness
and accuracy performance was compared. Stability selection was employed to evaluate the capability of the PLSR model to accurately predict and extract spectral variations correlated to MTX concentration.
Such a quantitative determination is crucial for maximize the potential benefit of oncological therapies by optimizing
dose regimen with TDM. Its low cost, rapid response and the possibility of obtaining spectra with simple and
compact instruments, make SERS particularly apt for implementing effective point-of-care services. The promising results obtained in the analytical validation indicate which steps are to be taken on the way toward a clinical validation with real samples from oncological patients, for MTX as well as for other chemotherapeutic drugs
- …
