An unusual form of BRAF-V600E mutated hairy cell neoplasm with clinical resistance to BRAF inhibition: Challenging precision medicine.

Distinct outcomes of BRAF inhibition in BRAF-mutated hairy cell neoplasms with wild-type or mutant TP53, and alternative strategies to overcome mutant TP53.

Four Days Are Enough to Provide a Reliable Daily Step Count in Mild to Moderate Parkinson's Disease through a Commercial Smartwatch.

Daily steps could be a valuable indicator of real-world ambulation in Parkinson's disease (PD). Nonetheless, no study to date has investigated the minimum number of days required to reliably estimate the average daily steps through commercial smartwatches in people with PD. Fifty-six patients were monitored through a commercial smartwatch for 5 consecutive days.

Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder.

Background: Cognitive impairment of intellectual developmental disorders (IDD) is determined by several different combinations of specific cognitive alterations. People with IDD present a rate of mental health problems that is up to 4 times higher than that of the general population. Despite this, the relationship between specific cognitive dysfunctions and co-occurring mental disorders has not been adequately studied.

Type-B monoamine oxidase inhibitors in neurological diseases: clinical applications based on preclinical findings.

Type-B monoamine oxidase inhibitors, encompassing selegiline, rasagiline, and safinamide, are available to treat Parkinson's disease. These drugs ameliorate motor symptoms and improve motor fluctuation in the advanced stages of the disease. There is also evidence supporting the benefit of type-B monoamine oxidase inhibitors on non-motor symptoms of Parkinson's disease, such as mood deflection, cognitive impairment, sleep disturbances, and fatigue.

The impact of dysphagia in Parkinson's disease patients treated with levodopa/carbidopa intestinal gel.

Background: Dysphagia is common in advanced phases of Parkinson disease (PD), and is a risk factor for aspiration pneumonia. Nonetheless, dysphagia has been poorly investigated in PD patients treated with levodopa-carbidopa intestinal gel (LCIG). We aimed to analyze the impact of dysphagia on mortality in LCIG treated patients and its relationship with other PD disability milestones.

Age at Onset Influences Progression of Motor and Non-Motor Symptoms during the Early Stage of Parkinson's Disease: A Monocentric Retrospective Study.

The interactions between the age at onset with other pathogenic mechanisms and the interplays between the disease progression and the aging processes in Parkinson's disease (PD) remain undefined, particularly during the first years of illness. Here, we retrospectively investigated the clinical presentation and evolution of the motor and non-motor symptoms and treatment-related complications during the first 5 years of illness in subjects categorized according to age at onset. A total of 131 subjects were divided into "Early-Onset-PD" (EOPD; onset ≤49 years), "Middle-Onset-PD" (MOPD; onset 50-69 years) and "Late-Onset-PD" (LOPD; onset ≥70 years).

SARS-CoV-2 infection and vaccination in patients with hairy-cell leukaemia.

Little is known of the course of COVID-19 and the antibody response to infection or vaccination in patients with hairy-cell leukaemia (HCL). Among a total of 58 HCL cases we studied in these regards, 37 unvaccinated patients, mostly enjoying a relatively long period free from anti-leukaemic treatment, developed COVID-19 between March 2020 and December 2021 with a usually favourable outcome (fatality rate: 5/37, 14%); however, active leukaemia, older age and more comorbidities were associated with a worse course. Postinfection (n = 11 cases) and postvaccination (n = 28) seroconversion consistently developed, except after recent anti-CD20 or venetoclax therapy, correlating with perivaccine B-cell count.

Choroidal vasculature analysis in MEK inhibitor-associated retinopathy.

Purpose: To evaluate choroidal vascularity index (CVI) in patients developing mitogen-activated protein kinase kinase (MEK) inhibitor-associated retinopathy (MEKAR).

Methods: In this prospective observational study, extensive ophthalmic examination was performed, including enhanced-depth-imaging-optical coherence tomography (EDI-OCT). EDI-OCT scans of patients receiving Cobimetinib, taken at baseline and at MEKAR manifestation, were considered for choroid analysis.

How I treat refractory/relapsed hairy cell leukemia with BRAF inhibitors.

Hairy cell leukemia (HCL) responds very well to frontline chemotherapy with purine analogs (cladribine and pentostatine). However, approximately half of patients experience 1 or more relapses, which become progressively resistant to these myelotoxic and immunosuppressive agents. At progression, standard therapeutic options include a second course of purine analogs alone or in combination with rituximab and, upon second relapse, therapy with the anti-CD22 immunotoxin moxetumomab pasudotox.

Usefulness of rapid molecular tests in pediatric respiratory tract infections.

Objective: To evaluate the role and the advantages of nasopharyngeal swabs in the detection of Influenza A and B viruses and Respiratory syncytial virus through a rapid test based upon a nucleic acid amplification reaction in order to avoid improper antibiotics use.

Design: Case-control retrospective study.

Setting: Emergency Room of "Sandro Pertini" General Hospital, Rome, Italy.

Switch from rasagiline to safinamide in fluctuating Parkinson's disease patients: a retrospective, pilot study.

Besides the inhibition of monoamine-oxidase-B, high-dose safinamide (100 mg) also blocks voltage-gated Na and Ca channels and inhibits glutamate release at overactive synapses. This latter mechanism may provide further benefit to fluctuating Parkinson's disease (PD) patients compared to rasagiline. Here, we retrospectively investigated the consequences of shifting from rasagiline to high-dose safinamide in PD patients reporting symptoms of wearing-off, defined by the Wearing-Off-Questionnaire-19 (WOQ-19) score ≥3 at baseline.

Vemurafenib plus Rituximab in Refractory or Relapsed Hairy-Cell Leukemia.

Background: Hairy-cell leukemia (HCL) is a CD20+ indolent B-cell cancer in which a BRAF V600E kinase-activating mutation plays a pathogenetic role. In clinical trials involving patients with refractory or relapsed HCL, the targeting of BRAF V600E with the oral BRAF inhibitor vemurafenib led to a response in 91% of the patients; 35% of the patients had a complete response. However, the median relapse-free survival was only 9 months after treatment was stopped.

Assessing sound symbolism: Investigating phonetic forms, visual shapes and letter fonts in an implicit bouba-kiki experimental paradigm.

Classically, in the bouba-kiki association task, a subject is asked to find the best association between one of two shapes-a round one and a spiky one-and one of two pseudowords-bouba and kiki. Numerous studies report that spiky shapes are associated with kiki, and round shapes with bouba. This task is likely the most prevalent in the study of non-conventional relationships between linguistic forms and meanings, also known as sound symbolism.

Evaluation of Mother-Child Agreement and Factorial Structures of the SCARED Questionnaire in an Italian Clinical Sample.

A great part of the literature has confirmed the importance of both child and parents reports as source of factual information, especially for childhood emotional syndromes. In our study we aimed at: (i) calculating mother-child agreement and (ii) evaluating factorial structure of the Screen for Child Anxiety Related Emotional Disorders (SCARED) questionnaire in an Italian clinical sample. The novelty of this contribution is two-fold: first, from a clinical point of view, we investigated the parent-child agreement level and examined separately the factorial structures of both parent and child versions of the SCARED for the first time in an Italian clinical sample.

Pulmonary toxoplasmosis in human immunodeficiency virus-infected patients in the era of antiretroviral therapy.

Toxoplasmosis is a severe opportunistic infection in patients infected with the human immunodeficiency virus (HIV). The lung is a major site of infection after the central nervous system. In this report we described two cases of pneumonia due to Toxoplasma gondii infection in HIV patients with antiretroviral therapy.

Targeting Mutant BRAF in Relapsed or Refractory Hairy-Cell Leukemia.

Background: BRAF V600E is the genetic lesion underlying hairy-cell leukemia. We assessed the safety and activity of the oral BRAF inhibitor vemurafenib in patients with hairy-cell leukemia that had relapsed after treatment with a purine analogue or who had disease that was refractory to purine analogues.

Methods: We conducted two phase 2, single-group, multicenter studies of vemurafenib (at a dose of 960 mg twice daily)--one in Italy and one in the United States.

[Rhodococcus equi infection in AIDS patients: retrospective analysis of 13 patients in Argentina].

Introduction: Rhodococcus equi is a gram positive coccoid rod that causes pulmonary infections in immunosuppressed patients.

Methods: We retrospectively analyzed epidemiological, clinical, microbiological, radiological, and immunological features as well as the outcomes of 13 AIDS patients with R. equi infection.

[Brunner's gland adenoma: a rare tumor as cause of pyloric syndrome in an AIDS patient].

Brunner's gland adenoma is a rare neoplasm that accounts for only the 0.008% of all benign duodenal tumors. Here we describe the case ofan HIV-seropositive man who developed a severe pyloric stenosis due to a Brunner's adenoma of the bulb and the first duodenal portion.

In vitro morphine metabolism by rat microglia.

Morphine is mainly transformed to morphine-3-glucuronide (M3G) and morphine-6-glucuronide (M6G) in the liver. Glucuronidation is also performed by rat brain homogenates and UDP-glucuronosyltransferases (UGTs) are present in the brain. Here we investigated the possibility that microglia transforms morphine into its metabolites M3G and M6G.