Visual imagery vividness declines across the lifespan - dataset

Dataset and statistical results for "Visual imagery vividness declines across the lifespan" manuscrip

Su due casi rari di leprecaunismo da mutazione del gene del recettore dell’insulina.

Il leprecaunismo, patologia autosomica recessiva, mortale nel I anno di vita, dovuta a mutazioni nel gene del recettore insulinico, é considerato estremamente raro (1: 4.000.000 nati vivi) cio’ nonostante negli ultimi 2 anni, abbiamo potuto diagnosticare due casi caratterizzati da grave insulinoresistenza. MF nasce il 22/7/2009 IUGR alla 37° settimana di gestazione da T.C. per distacco di placenta, da genitori consanguinei provenienti dal Marocco.Alla nascita Peso Kg 1.900,Lung.cm 42,CC.cm 33.Aspetto distrofico per assenza del pannicolo adiposo. Facies dismorfica, occhi grandi e prominenti, ipertelorismo, ipertricosi, acantosis nigricans,. Posto in terapia infusionale endovenosa presentava inizialmente un incremento di peso. Alla sospensione della terapia infusionale il peso iniziava, pero’, a decrementare e per la presenza di anemia il piccolo iniziava terapia con eritropoietina. Al monitoraggio glicemico durante e dopo la terapia infusionale i valori glicemici oscillavano tra i 50 ed i 240 mg/dl con valori prevalenti intorno ai 160 mg/dl. Non ha mai praticato insulina. L’insulinemia è sempre stata elevatissima: ( 24/08/09 ) 210.1 μU /mL; ( 04/09/09) > 320.1 μU/mL; ( 27/10/09 )3.935.2 μUI/mL(v.n.< 17) μU/mL. Nonostante le iperglicemie il bambino non ha mai manifestato acidosi metabolica fino al 3° mese quando, in poche ore, ha presentato una gravissima forma di chetoacidosi che ne ha determinato, robabilmente, l’exitus. Pochi mesi dopo abbiamo avuto un secondo caso nato da gravidanza gemellare da padre naturale e impianto di ovuli da donatrice eterologa. In questo caso abbiamo intrapreso fin dall’inizio terapia parenterale totale. Anche in questo caso, però, l’exitus si è verificato intorno al terzo mese per sepsi.L’interesse di questi casi, oltre alla rarità della patologia, è dovuta alla difficile scelta terapeutica (terapia infusionale, parenterale ecc) che deve, da un lato, gestire le iper e le ipoglicemie, dall’altro evitare l’ìpercatabolismo legato al deficit di funzione insulinica. E’ possibile ipotizzare che la chetoacidosi del primo caso sia stata la conseguenza della maturazione degli ormoni controinsulari (glucagone) che si ha, di solito tra i terzo ed il quarto mese di vita

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson–Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR. Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR. Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4). The fifth patient with congenital SIR died when 14 months old. Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively. Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation. We conclude that renal abnormalities resembling antenatal Bartter’s syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR

What if the future of HER2-positive breast cancer patients was written in miRNAs? An exploratory analysis from NeoALTTO study

Background: Neoadjuvant therapy with dual HER2 blockade improved pathological complete response (pCR) rate in HER2-positive breast cancer patients. Nevertheless, it would be desirable to identify patients exquisitely responsive to single agent trastuzumab to minimize or avoid overtreatment. Herein, we evaluated the predictive and prognostic value of basal primary tumor miRNA expression profile within the trastuzumab arm of NeoALTTO study (ClinicalTrials.gov Identifier: NCT00553358). Methods: RNA samples from baseline biopsies were randomized into training (n = 45) and testing (n = 47) sets. After normalization, miRNAs associated with Event-free survival (EFS) and pCR were identified by univariate analysis. Multivariate models were implemented to generate specific signatures which were first confirmed, and then analyzed together with other clinical and pathological variables. Results: We identified a prognostic signature including hsa-miR-153-3p (HR 1.831, 95% CI: 1.34–2.50) and hsa-miR-219a-5p (HR 0.629, 95% CI: 0.50–0.78). For two additional miRNAs (miR-215-5p and miR-30c-2-3p), we found a statistically significant interaction term with pCR (p.interaction: 0.017 and 0.038, respectively). Besides, a two-miRNA signature was predictive of pCR (hsa-miR-31-3p, OR 0.70, 95% CI: 0.53–0.92, and hsa-miR-382-3p, OR: 1.39, 95% CI: 1.01–1.91). Notably, the performance of this predictive miRNA signature resembled that of the genomic classifiers PAM50 and TRAR, and did not improve when the extended models were fitted. Conclusion: Analyses of primary tumor tissue miRNAs hold the potential of a parsimonious tool to identify patients with differential clinical outcomes after trastuzumab based neoadjuvant therapy.SCOPUS: ar.jDecretOANoAutActifinfo:eu-repo/semantics/publishe

Head and neck surgical oncology in the time of a pandemic: Subsite-specific triage guidelines during the COVID-19 pandemic.

BackgroundCOVID-19 pandemic has strained human and material resources around the world. Practices in surgical oncology had to change in response to these resource limitations, triaging based on acuity, expected oncologic outcomes, availability of supportive resources, and safety of health care personnel.MethodsThe MD Anderson Head and Neck Surgery Treatment Guidelines Consortium devised the following to provide guidance on triaging head and neck cancer (HNC) surgeries based on multidisciplinary consensus. HNC subsites considered included aerodigestive tract mucosa, sinonasal, salivary, endocrine, cutaneous, and ocular.RecommendationsEach subsite is presented separately with disease-specific recommendations. Options for alternative treatment modalities are provided if surgical treatment needs to be deferred.ConclusionThese guidelines are intended to help clinicians caring for patients with HNC appropriately allocate resources during a health care crisis, such as the COVID-19 pandemic. We continue to advocate for individual consideration of cases in a multidisciplinary fashion based on individual patient circumstances and resource availability

Head and neck surgical oncology in the time of a pandemic: Subsite-specific triage guidelines during the COVID-19 pandemic.

BackgroundCOVID-19 pandemic has strained human and material resources around the world. Practices in surgical oncology had to change in response to these resource limitations, triaging based on acuity, expected oncologic outcomes, availability of supportive resources, and safety of health care personnel.MethodsThe MD Anderson Head and Neck Surgery Treatment Guidelines Consortium devised the following to provide guidance on triaging head and neck cancer (HNC) surgeries based on multidisciplinary consensus. HNC subsites considered included aerodigestive tract mucosa, sinonasal, salivary, endocrine, cutaneous, and ocular.RecommendationsEach subsite is presented separately with disease-specific recommendations. Options for alternative treatment modalities are provided if surgical treatment needs to be deferred.ConclusionThese guidelines are intended to help clinicians caring for patients with HNC appropriately allocate resources during a health care crisis, such as the COVID-19 pandemic. We continue to advocate for individual consideration of cases in a multidisciplinary fashion based on individual patient circumstances and resource availability

Analysis of Outcomes in Ischemic vs Nonischemic Cardiomyopathy in Patients With Atrial Fibrillation A Report From the GARFIELD-AF Registry

IMPORTANCE Congestive heart failure (CHF) is commonly associated with nonvalvular atrial fibrillation (AF), and their combination may affect treatment strategies and outcomes