The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies-understanding the molecular signaling deficits that cause the manifestations of NF-to the growth of preclinical drug screening initiatives and the emergence of a number of clinical trials. An important element in fuelling this progress is the sharing of knowledge, and to this end, for over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share ideas and build collaborations. The 2010 NF Conference held in Baltimore, MD June 5-8, 2010 hosted over 300 NF researchers and clinicians. This paper provides a synthesis of the highlights presented at the Conference and as such, is a "state-of-the-field" for NF research in 2010.
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http://dx.doi.org/10.1002/ajmg.a.33804 | DOI Listing |
J Crit Care
January 2025
Hospital Saint-Louis et Université Paris Cité, Assistance Publique-Hôpitaux de Paris, France. Electronic address:
Purpose: Onco-hematological (OH) patients face significant cardiovascular risks due to malignancy and drug toxicity. Data are limited on the characteristics and outcomes of OH patients with cardiogenic shock (CS) in intensive care units (ICUs).
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BMJ Open
January 2025
Azrieli Research Center UHC Sainte-Justine, Montreal, Quebec, Canada.
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View Article and Find Full Text PDFBMJ Open
December 2024
Department of Pediatric and Child Health Nursing, Injibara University, Injibara, Ethiopia.
Objective: To assess the pooled in-hospital mortality among neonates with necrotising enterocolitis (NEC) in Ethiopia.
Design: This was a systematic review and meta-analysis reported based on the Preferred Reporting Items for Systematic Review and Meta-analysis guideline.
Data Sources: African Journals Online, PubMed/Medline, Google Scholar, Cochrane Library and repositories of Ethiopian Universities.
Paediatr Drugs
January 2025
National Centre for Register-based Research, Aarhus University, Fuglesangs Allé 26, 8210, Aarhus V, Denmark.
Background And Objectives: Females of reproductive age are increasingly using attention deficit hyperactivity disorder (ADHD) medication, but its use during pregnancy and breastfeeding is largely unknown. The aim of this study is to examine the prevalence of ADHD medication fills during pregnancy and breastfeeding, including characteristics of these females and cohort differences over time.
Methods: We conducted a descriptive study using Danish nationwide registers.
Cochrane Database Syst Rev
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Department of Urology, Freeman Hospital, Newcastle upon Tyne, UK.
Background: Almost half of all women will have at least one symptomatic urinary tract infection (UTI) in their lifetime. Although usually self-remitting, 74% of women contacting a health professional are prescribed an antibiotic, and in rare instances, they may progress to more severe infections. Therefore, the standard of care for the treatment of symptomatic uncomplicated UTIs is oral antibiotic therapy, which aims to achieve symptom resolution and prevent the development of complications such as pyelonephritis.
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