176 research outputs found

    Primary headaches in children: clinical findings on the association with other conditions.

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    The aim of the present study is to report on the frequency of some comorbidities in primary headaches in childhood. Two hundred and eighty children (175 males and 105 females; ratio 1.7:1), aged 4 to 14 years, affected by primary headaches were consecutively enrolled in this study. In direct interviews, parents and children gave information about the association of their headaches with different conditions including asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight, affections some time associated in the literature to headache as comorbidities. In addition, anxiety and depression, attention deficit/hyperactivity disorder, tics, learning disabilities and obsessive-compulsive disorders, using psycho-diagnostic scales were evaluated. Two hundred and eighty children matched for age, sex, race and socio-economic status, were used as controls. No significant association of primary headaches was found with asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight. Overall behavioral disorders were more common in children who experienced headache than in controls. A significant association of primary headache was found with anxiety and depression (p value <0.001), but not with the other psychiatric disorders. Primary headaches in children are not associated with most of the psychiatric and systemic conditions herein investigated. On the contrary, there was a significant association with anxiety and depression, as frequently reported in adults

    Development of an optimized protocol for NMR metabolomics studies of human colon cancer cell lines and first insight from testing of the protocol using DNA G-quadruplex ligands as novel anti-cancer drugs

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    The study of cell lines by nuclear magnetic resonance (NMR) spectroscopy metabolomics represents a powerful tool to understand how the local metabolism and biochemical pathways are influenced by external or internal stimuli. In particular, the use of adherent mammalian cells is emerging in the metabolomics field in order to understand the molecular mechanism of disease progression or, for example, the cellular response to drug treatments. Hereto metabolomics investigations for this kind of cells have generally been limited to mass spectrometry studies. This study proposes an optimized protocol for the analysis of the endo-metabolome of human colon cancer cells (HCT116) by NMR. The protocol includes experimental conditions such as washing, quenching and extraction. In order to test the proposed protocol, it was applied to an exploratory study of cancer cells with and without treatment by anti-cancer drugs, such as DNA G-quadruplex binders and Adriamycin (a traditional anti-cancer drug). The exploratory NMR metabolomics analysis resulted in NMR assignment of all endo-metabolites that could be detected and provided preliminary insights about the biological behavior of the drugs tested

    Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

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    Abstract PURPOSE: Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. It is characterized by insidious onset with a selective degeneration of retinal ganglion cells, variable loss of visual acuity, temporal optic nerve pallor, tritanopia, and development of central, paracentral, or cecocentral scotomas. Here we describe the clinical and molecular findings in a large Italian family with ADOA. METHODS: Routine ophthalmologic examination and direct sequencing of all coding regions of the OPA1 gene were performed. Further characterization of a new OPA1 gene insertion was performed by reverse transcription-PCR (RT-PCR) of RNA from patients and control subjects. RESULTS: We identified an Alu-element insertion located in intron 7 of OPA1 causing an in-frame deletion of exon 8 in 18 family members. CONCLUSIONS: The predicted consequence of this mutation is the loss of the guanosine triphosphatase (GTPase) activity of OPA1. Alu insertions have been reported in the literature as causing human genetic disease. However, this is the first report of a pathogenic OPA1 gene mutation resulting from an Alu insertion

    Electrochemotherapy as palliative treatment in patients with advanced head and neck tumours: Outcome analysis in 93 patients treated in a single institution.

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    Abstract Purpose To describe outcomes of Electrochemotherapy as palliative treatment in patients with advanced head and neck (H&N) tumours. Methods Ninety-three patients (120 treatment sessions) with H&N recurrent and/or metastatic neoplasm were treated. Treatment response was assessed 4 weeks after ECT with clinical examination and two months after the first evaluation with a CT scan of the H&N for deep lesions evaluation. The grade of bleeding and pain before, at the end of treatment and one week after ECT were evaluated. Results Five percent of complete responses, 40% of partial responses were registered. Disease progression was seen in 20% of patients after the first ECT procedure, the remaining 34% of patients experienced stable disease. A good control of pain and bleeding was obtained, especially in patients with moderate symptoms before the treatment. No toxicities related to ECT were seen. Conclusions ECT is an interesting antitumoral therapy in advanced chemo and radio-refractory H&N neoplasms. ECT is able to reduce frequent symptoms, such as pain and bleeding, improving quality of life without damage to healthy tissue and with limited side effects. Moreover, ECT reduces hospitalization time and may contribute to an overall reduction in healthcare costs associated with advanced H&N cancers care

    30-Day morbidity and mortality of bariatric metabolic surgery in adolescence during the COVID-19 pandemic – The GENEVA study

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    Background: Metabolic and bariatric surgery (MBS) is an effective treatment for adolescents with severe obesity. Objectives: This study examined the safety of MBS in adolescents during the coronavirus disease 2019 (COVID-19) pandemic. Methods: This was a global, multicentre and observational cohort study of MBS performed between May 01, 2020, and October 10,2020, in 68 centres from 24 countries. Data collection included in-hospital and 30-day COVID-19 and surgery-specific morbidity/mortality. Results: One hundred and seventy adolescent patients (mean age: 17.75 ± 1.30 years), mostly females (n&nbsp;=&nbsp;122, 71.8%), underwent MBS during the study period. The mean pre-operative weight and body mass index were 122.16 ± 15.92 kg and 43.7&nbsp;± 7.11 kg/m2, respectively. Although majority of patients had pre-operative testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (n&nbsp;=&nbsp;146; 85.9%), only 42.4% (n&nbsp;=&nbsp;72) of the patients were asked to self-isolate pre-operatively. Two patients developed symptomatic SARS-CoV-2 infection post-operatively (1.2%). The overall complication rate was 5.3% (n&nbsp;=&nbsp;9). There was no mortality in this cohort. Conclusions: MBS in adolescents with obesity is safe during the COVID-19 pandemic when performed within the context of local precautionary procedures (such as pre-operative testing). The 30-day morbidity rates were similar to those reported pre-pandemic. These data will help facilitate the safe re-introduction of MBS services for this group of patients

    Gastroduodenal Lesions Associated with Portal Hypertension: An Extensive Review

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    The block of the portal flow by obstacles in prehepatic, hepatic or posthepatic site and alterations of the splanchnic blood flow are the pathological conditions that lead to portal hypertension. The portal hypertension can cause also others gastroduodenal lesions, potentially hemorrhagic, in addition to esophageal varices commonly developed and habitual source of bleeding in these patients. The gastroduodenal lesions associated with portal hypertension, usually encountered in the clinical practice, are portal hypertensive gastropaty, gastric antral vascular ectasia, gastric and duodenal ulcer, isolated gastric varices. The pathophysiology and clinical, diagnostic and therapeutic features of these lesions are examined

    Endoscopic surgical procedures for cervical cancer treatment: a literature review

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    Cervical cancer remains the leading cause of death by gynecologic cancer worldwide, comprising 15% of all cancers in women younger than 40 years. Standard treatments of invasive cancer in early stages are radical hysterectomy and pelvic radiotherapy, both of which are almost reliable by minimal invasive surgery, so as traditional laparoscopy and robotic-assisted surgery. Moreover, 45% of reproductive-age women are diagnosed with stage IB1 disease, making the fertility-sparing procedure, radical trachelectomy, a viable option for most patients for treatment of early-stage cervical cancer and maintenance of future fertility. This chapter focuses on emerging surgical techniques, including the laparoscopic and robotic approach, are improving perioperative outcomes for these patients. A manual and computer-aided search was carried out for all reviews related to this topic, randomized controlled trials, prospective observational studies, retrospective studies and case reports published between 1980 and 2012, assessing robotic surgery, Search strings were: laparoscopic surgery; robot or robot-assisted surgery; radical hysterectomy; cervical cancer, minimally invasive surgery. Robotic-assisted gynecologic surgery has increased worldwide, considering the number of scientific articles dedicated to it though few retrospective and prospective studies have demonstrated the feasibility of robotic-assisted surgery in radical hysterectomy. In general, robot-assisted gynecologic surgery is often associated with longer operating room time but generally similar clinical outcomes, decreased blood loss, and shorter hospital stay. Robotic-assisted procedures are not, however, without their limitations: the equipment is still very large, bulky, and expensive, the staff must be trained, specifically on draping and docking the apparatus to maintain efficient operative times. Functional limitations include lack of haptic feedback, limited vaginal access, limited instrumentation, and larger port incisions. Exchanging instruments becomes more cumbersome and requires a surgical assistant to change the instruments. Additionally, the current robotic instruments do not include endoscopic staplers or vessel sealing devices. Finally, laparoscopic radical hysterectomy is a feasible and safe procedure that is associated with fewer intraoperative and postoperative complications than abdominal radical hysterectomy. The role of robotic-assisted surgery is continuing to expand, but well-designed, prospective studies with well-defined clinical, long-term outcomes, including complications, cost, pain, return to normal activity, and quality of life, are needed to fully assess the value of this new technology in radical hysterectomy. Scientific literature has shown the feasibility of a radical resection by minimally invasive oncological surgery and documented an equivalent number of pelvic nodes harvested by laparoscopy and open surgery. Women with a tumor size 2 cm or smaller and stage IA1 with lymphovascular space involvement (LVSI), IA2, or IB1 disease may be offered fertility-sparing treatment after thorough evaluation by an oncologist trained in this management

    Asthma: Differential Diagnosis and Comorbidities

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    Childhood asthma remains a multifactorial disease with heterogeneous clinical phenotype and complex genetic inheritance. The primary aim of asthma management is to achieve control of symptoms, in order to reduce the risk of future exacerbations and progressive loss of lung function, which results especially challenging in patients with difficult asthma. When asthma does not respond to maintenance treatment, firstly, the correct diagnosis needs to be confirmed and other diagnosis, such as cystic fibrosis, primary ciliary dyskinesia, immunodeficiency conditions or airway and vascular malformations need to be excluded. If control remains poor after diagnostic confirmation, detailed assessments of the reasons for asthma being difficult-to-control are needed. Moreover, all possible risk factors or comorbidities (gastroesophageal reflux, rhinosinusitis, dysfunctional breathing and/or vocal cord dysfunction, obstructive sleep apnea and obesity) should be investigated. At the same time, the possible reasons for poor symptom control need to be find in all modifiable factors which need to be carefully assessed. Non-adherence to medication or inadequate inhalation technique, persistent environmental exposures and psychosocial factors are, currently, recognized as the more common modifiable factors. Based on these premises, investigation and management of asthma require specialist multidisciplinary expertise and a systematic approach to characterizing patients' asthma phenotypes and delivering individualized care. Moreover, since early wheezers are at higher risk of developing asthma, we speculate that precocious interventions aimed at early diagnosis and prevention of modifiable factors might affect the age at onset of wheezing, reduce the prevalence of persistent later asthma and determine long term benefits for lung health

    Interface Modification for Energy Levels Alignment and Charge Extraction in CsPbI3_3 Perovskite Solar Cells

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    In perovskite solar cells (PSCs) energy levels alignment and charge extraction at the interfaces are the essential factors directly affecting the device performance. In this work, we present a modified interface between all-inorganic CsPbI3_3 perovskite and its hole selective contact (Spiro-OMeTAD), realized by a dipole molecule trioctylphosphine oxide (TOPO), to align the energy levels. On a passivated perovskite film, by n-Octyl ammonium Iodide (OAI), we created an upward surface band-bending at the interface by TOPO treatment. This improved interface by the dipole molecule induces a better energy level alignment and enhances the charge extraction of holes from the perovskite layer to the hole transport material. Consequently, a Voc of 1.2 V and high-power conversion efficiency (PCE) of over 19% were achieved for inorganic CsPbI3_3 perovskite solar cells. Further, to demonstrate the effect of the TOPO dipole molecule, we present a layer-by-layer charge extraction study by transient surface photovoltage technique (trSPV) accomplished by charge transport simulation.Comment: 20 pages, 4 Figure
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