scholarly journals Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Cancers ◽  
2021 ◽  
Vol 13 (24) ◽  
pp. 6336
Author(s):  
Ugo Sorrentino ◽  
Silvia Bellonzi ◽  
Chiara Mozzato ◽  
Valeria Brasson ◽  
Irene Toldo ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Neurofibromatosis Type ◽  
Molecular Data ◽  
University Hospital ◽  
Total Prevalence ◽  
Increased Risk ◽  
Structural Abnormalities ◽  
The University ◽  
Crude Prevalence

An increased lifetime risk of epilepsy has been reported in neurofibromatosis type 1 (NF1) patients, ranging between 4% and 14%. To further analyze the correlation between NF1 and epilepsy, we retrospectively reviewed the epidemiologic, clinical, radiological, and molecular data of 784 unselected patients diagnosed with NF1 and referred to the neurofibromatosis outpatient clinics at the University Hospital of Padua. A crude prevalence of epilepsy of 4.7% was observed. In about 70% of cases, seizures arose in the context of neuroradiological findings, with the main predisposing factors being cerebral vasculopathies and hydrocephalus. In the absence of structural abnormalities, the prevalence of epilepsy was found to be 1.27%, which is approximately equal to the total prevalence in the general population. NF1 patients with seizures exhibit a higher incidence of intellectual disability and/or developmental delay, as well as of isolated learning disabilities. The comparison of causative NF1 mutations between the two groups did not reveal a specific genotype–phenotype correlation. Our data refine the current knowledge on epileptological manifestations in NF1 patients, arguing against the hypothesis that specific mechanisms, inherent to neurofibromin cellular function, might determine an increased risk of epilepsy in this condition.

scholarly journals Prevalence, Persistence, and Factors Associated with SARS-CoV-2 IgG Seropositivity in a Large Cohort of Healthcare Workers in a Tertiary Care University Hospital in Northern Italy

Viruses ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1064
Author(s):  
Gitana Scozzari ◽  
Cristina Costa ◽  
Enrica Migliore ◽  
Maurizio Coggiola ◽  
Giovannino Ciccone ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Multivariable Analysis ◽  
Northern Italy ◽  
University Hospital ◽  
Care Workers ◽  
Increased Risk ◽  
Never Smokers ◽  
The University ◽  
Job Profile ◽  
Pandemic Wave

This observational study evaluated SARS-CoV-2 IgG seroprevalence and related clinical, demographic, and occupational factors among workers at the largest tertiary care University-Hospital of Northwestern Italy and the University of Turin after the first pandemic wave of March–April 2020. Overall, about 10,000 individuals were tested; seropositive subjects were retested after 5 months to evaluate antibodies waning. Among 8769 hospital workers, seroprevalence was 7.6%, without significant differences related to job profile; among 1185 University workers, 3.3%. Self-reporting of COVID-19 suspected symptoms was significantly associated with positivity (Odds Ratio (OR) 2.07, 95%CI: 1.76–2.44), although 27% of seropositive subjects reported no previous symptom. At multivariable analysis, contacts at work resulted in an increased risk of 69%, or 24% for working in a COVID ward; contacts in the household evidenced the highest risk, up to more than five-fold (OR 5.31, 95%CI: 4.12–6.85). Compared to never smokers, being active smokers was inversely associated with seroprevalence (OR 0.60, 95%CI: 0.48–0.76). After 5 months, 85% of previously positive subjects still tested positive. The frequency of SARS-COV-2 infection among Health Care Workers was comparable with that observed in surveys performed in Northern Italy and Europe after the first pandemic wave. This study confirms that infection frequently occurred as asymptomatic and underlines the importance of household exposure, seroprevalence (OR 0.60, 95%CI: 0.48–0.76).

scholarly journals Pulmonary hypertension associated with neurofibromatosis type 1

2018 ◽  
Vol 27 (149) ◽  
pp. 180053 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Barbara Girerd ◽  
Xavier Jaïs ◽  
Laurent Savale ◽  
Caroline O'Connell ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Disease ◽  
Increased Risk ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways.

scholarly journals Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

2019 ◽  
Vol 12 (7) ◽  
pp. e228170 ◽  
Author(s):  
James Ritchie Gill ◽  
Tamer Magid EL Nakhal ◽  
Soo-Mi Park ◽  
Mariusz Chomicki
Keyword(s):  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Pathological Fracture ◽  
Neurofibromatosis Type ◽  
Ossifying Fibroma ◽  
Pathological Fractures ◽  
Cast Immobilisation ◽  
Increased Risk ◽  
Operative Fixation

We report the management of a pathological fracture through a proximal tibial non-ossifying fibroma (NOF) in a 13-year-old girl with neurofibromatosis type 1 (NF1). The fracture was minimally displaced, and the lesion had clinical features of a NOF, and therefore biopsy was not required. Operative fixation has been the preferred method of treatment for pathological fractures through NOF associated with NF1. Multiple NOFs associated with NF1 are rare but can coalesce resulting in large lesions with an increased risk of pathological fracture. In cases which permit, non-operative treatment with cast immobilisation can yield satisfactory results.

scholarly journals Psychosocial emergency care in times of COVID-19: the Essen University Hospital concept for corona-infected patients, their relatives, and medical staff

2020 ◽  
Author(s):  
Vanessa Rentrop ◽  
Johanna Sophie Schneider ◽  
Alexander Bäuerle ◽  
Florian Junne ◽  
Nora Dörrie ◽  
...  
Keyword(s):  
Medical Staff ◽  
Online Training ◽  
University Hospital ◽  
High Psychological Distress ◽  
Increased Risk ◽  
Psychosocial Emergency ◽  
Low Threshold ◽  
Long Term Consequences ◽  
The University

Abstract Due to the SARS CoV-2-virus (COVID-19), anxiety, distress, and insecurity occur more frequently. In particular, infected individuals, their relatives, and medical staff face an increased risk of high psychological distress as a result of the ongoing pandemic. Thus, structured psychosocial emergency concepts are needed. The University hospital of Essen has taken up this challenge by creating the PEC concept to reduce psychosocial long-term consequences for infected patients, relatives, and medical staff at the university hospital. The concept includes professional medical as well as psychological support to convey constructive coping strategies and the provision of adequate tools such as the low-threshold online training program (CoPE It), which is accessible via the webpage www.cope-corona.de.

scholarly journals Biological Activity of c-Peptide in Microvascular Complications of Type 1 Diabetes—Time for Translational Studies or Back to the Basics?

2020 ◽  
Vol 21 (24) ◽  
pp. 9723
Author(s):  
Aleksandra Ryk ◽  
Aleksandra Łosiewicz ◽  
Arkadiusz Michalak ◽  
Wojciech Fendler
Keyword(s):  
Type 1 Diabetes ◽  
Growth Factor ◽  
Transforming Growth Factor ◽  
Negative Impact ◽  
Current Knowledge ◽  
Microvascular Complications ◽  
C Peptide ◽  
Increased Risk ◽  
The Impact

People with type 1 diabetes have an increased risk of developing microvascular complications, which have a negative impact on the quality of life and reduce life expectancy. Numerous studies in animals with experimental diabetes show that c-peptide supplementation exerts beneficial effects on diabetes-induced damage in peripheral nerves and kidneys. There is substantial evidence that c-peptide counteracts the detrimental changes caused by hyperglycemia at the cellular level, such as decreased activation of endothelial nitric oxide synthase and sodium potassium ATPase, and increase in formation of pro-inflammatory molecules mediated by nuclear factor kappa-light-chain-enhancer of activated B cells: cytokines, chemokines, cell adhesion molecules, vascular endothelial growth factor, and transforming growth factor beta. However, despite positive results from cell and animal studies, no successful c-peptide replacement therapies have been developed so far. Therefore, it is important to improve our understanding of the impact of c-peptide on the pathophysiology of microvascular complications to develop novel c-peptide-based treatments. This article aims to review current knowledge on the impact of c-peptide on diabetic neuro- and nephropathy and to evaluate its potential therapeutic role.

scholarly journals Brain tumors in neurofibromatosis type 1

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i85-i97
Author(s):  
Amanda De Andrade Costa ◽  
David H Gutmann
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Vision Loss ◽  
Critical Role ◽  
Neurofibromatosis Type ◽  
Therapeutic Drug ◽  
Low Grade ◽  
Increased Risk ◽  
Genetically Engineered Mice

Abstract AbstractAs a cancer predisposition syndrome, individuals with neurofibromatosis type 1 (NF1) are at increased risk for the development of both benign and malignant tumors. One of the most common locations for these cancers is the central nervous system, where low-grade gliomas predominate in children. During early childhood, gliomas affecting the optic pathway are most frequently encountered, whereas gliomas of the brainstem and other locations are observed in slightly older children. In contrast, the majority of gliomas arising in adults with NF1 are malignant cancers, typically glioblastoma, involving the cerebral hemispheres. Our understanding of the pathogenesis of NF1-associated gliomas has been significantly advanced through the use of genetically engineered mice, yielding new targets for therapeutic drug design and evaluation. In addition, Nf1 murine glioma models have served as instructive platforms for defining the cell of origin of these tumors, elucidating the critical role of the tumor microenvironment in determining tumor growth and vision loss, and determining how cancer risk factors (sex, germline NF1 mutation) impact on glioma formation and progression. Moreover, these preclinical models have permitted early phase analysis of promising drugs that reduce tumor growth and attenuate vision loss, as an initial step prior to translation to human clinical trials.

scholarly journals Glioblastoma Multiforme in the Posterior Cranial Fossa in a Patient with Neurofibromatosis Type I

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
Author(s):  
Marike L. D. Broekman ◽  
Roelof Risselada ◽  
JooYeon Engelen-Lee ◽  
Wim G. M. Spliet ◽  
Bon H. Verweij
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
High Grade ◽  
High Grade Astrocytoma ◽  
Increased Risk ◽  
Pilocytic Astrocytomas ◽  
Benign Nature ◽  
Cranial Fossa ◽  
The Brain

Patients with Neurofibromatosis type 1 (NF1) have an increased risk of developing neoplasms. The most common brain tumors, found in 15%–20% of NF1 patients, are hypothalamic-optic gliomas, followed by brainstem and cerebellar pilocytic astrocytomas. These tumors generally have a benign nature. NF1 patients are predisposed to a 5-fold increased incidence of high-grade astrocytomas, which are usually located in supratentorial regions of the brain. We present an NF1 patient who developed a high-grade astrocytoma in the posterior fossa and discuss possible pathophysiological mechanisms.

scholarly journals Increased risk of breast cancer in neurofibromatosis type 1: current insights

2017 ◽  
Vol Volume 9 ◽  
pp. 531-536 ◽  
Author(s):  
Sacha J Howell ◽  
Kimberley Hockenhull ◽  
Zena Salih ◽  
D Gareth Evans
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Increased Risk

scholarly journals The Possibility of Contralateral Non-Sentinel Groin Node’s Metastasis in Early Primary Vulvar Cancer Women After Unilateral Sentinel Node’s Metastasis: A Single Center Evaluation in University Hospital of Düsseldorf

2020 ◽  
Author(s):  
Andreas Suhartoyo Winarno ◽  
Anne Mondal ◽  
Franca Christina Martignoni ◽  
Tanja Natascha Fehm ◽  
Monika Hampl
Keyword(s):  
Vulvar Cancer ◽  
University Hospital ◽  
Morbidity Rate ◽  
Current Guideline ◽  
Single Center ◽  
Standard Management ◽  
Increased Risk ◽  
Early Primary ◽  
The University ◽  
Current Guidelines

Abstract Background: Sentinel node biopsy (SLNB) technique in unifocal vulvar cancer (diameter of < 4cm) and unsuspicious groin lymph nodes, the morbidity rate of patients has significantly decreased all over the world. In contrast to SLNB, bilateral inguinofemoral lymphadenectomy (IFL) has been associated with increased risk of common morbidities. Current guidelines (NCCN, ESGO, RCOG, and German) suggest that in cases of metastasis of unilateral SLNB, groin node dissection with IFL, should be performed bilaterally. However, a publication by Woelber et al. 0% (p=0/28) and Nica et al. 5.3% (p=1/19) contradicted the current guideline. Methods: A single-center analysis conducted in the University Hospital of Dusseldorf, evaluating vulvar cancer patients treated with SLNB retrospectively from 2002 to 2018. Result, discussion and conclusion: Current guideline for bilateral IFL should remain as the standard management because 22.2% women (n=4/18) had contralateral IFL groin metastasis after unilateral SLNB metastasis initially. The depth of tumor infiltrating cells was correlated significantly and positively with the incidence rate of groin metastasis (p=0.0038). Therefore, it is an indication for bilateral IFL.

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