Search results for "deficiency"
showing 10 items of 1071 documents
The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution
2020
The immune system can recognize and attack cancer cells, especially those with a high load of mutation-induced neoantigens. Such neoantigens are abundant in DNA mismatch repair (MMR)-deficient, microsatellite-unstable (MSI) cancers. MMR deficiency leads to insertion/deletion (indel) mutations at coding microsatellites (cMS) and to neoantigen-inducing translational frameshifts. Here, we develop a tool to quantify frameshift mutations in MSI colorectal and endometrial cancer. Our results show that frameshift mutation frequency is negatively correlated to the predicted immunogenicity of the resulting peptides, suggesting counterselection of cell clones with highly immunogenic frameshift peptid…
Development and description of New Nordic Diet scores across infancy and childhood in the Norwegian Mother, Father and Child Cohort Study (MoBa)
2021
Abstract In recent years, examining dietary patterns has become a more common way of investigating potential associations between diet and adverse health outcomes. The New Nordic Diet (NND) is a potentially healthy and sustainable dietary pattern characterized by foods that are locally available and traditionally consumed in the Nordic countries. The diet has been typically examined in adult populations, and less is known about compliance to the NND from infancy throughout childhood. In the current study, we therefore aimed to develop and describe child age‐specific NND scores. This study is based on the Norwegian Mother, Father and Child Cohort Study (MoBa) and uses data from the Medical B…
Identification of fatal outcome in a childhood nasopharyngeal carcinoma patient by protein expression profiling.
2017
Nasopharyngeal carcinoma (NPC) is a rare disease in children with good prognosis and high cure rate. Nevertheless, certain patients have an unfavorable prognosis due to development of refractory NPC that is unresponsive to any therapeutic strategies. The current study studies a case of a 17 years-old female with non-keratinizing NPC type IIb (T2N0M0), who passed away as a consequence of resistance to chemo-, radio- and β-interferon therapy, and to an allogenic stem cell transplantation. In order to identify factors that lead to treatment failure and fatal outcome, immunohistochemical analyses of different tumor biomarkers and hierarchical cluster analysis were performed and compared with th…
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With L…
2020
Contains fulltext : 220040.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients. METHODS: We combined clinical and molecular data from 3 studies. We obtained clinical data from 2747 patients with Lynch syndrome associated with variants in MLH1, MSH2, or MSH6 from Germany, the Net…
Expansion of permanent first molars with rapid maxillary expansion appliance anchored on primary second molars
2018
Background To evaluate how the amount of expansion of the primary second molars, the patient's age, and the skeletal maturation stage influence the amount of expansion at the level of the permanent first molars. Material and methods Fifty-five patients aged between 6 and 11 years with a cervical vertebral maturation stage of CS1 or CS2 were retrospectively selected. The intermolar width was measured before and after expansion to evaluate the amount of expansion achieved at the level of the primary second molars and the permanent first molars. Stepwise multiple linear regression was used to evaluate how the amount of primary molars expansion, the patient's age, and the cervical vertebral mat…
Plasmablastic lymphoma as a manifestation of the human immunodeficiency virus: Case report
2020
Plasmablastic lymphoma is a rare subtype of non-Hodgkin’s lymphoma, which generally presents an aggressive clinical course and low survival rates. It is strongly associated with HIV infection and the most common site of involvement of the territory of the head and neck is Waldeyer’s lymphatic ring, followed by the gastrointestinal tract, lymph nodes and skin. The morphological characteristics of PBL in the oral cavity / jaw in the context of HIV infection show diffuse sheets of large immunoblastic cells with abundant cytoplasm, vesicular chromatin and prominent nucleus, a small located in the center with plasma cells differentiation. The main goal of this article is to review the literature…
Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases
2021
Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency
2017
International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …
Neoplasia mandibular y gastrostomía: a propósito de un caso nutricional
2018
Se expone el caso de un varón de 47 años con carcinoma epidermoide mandibular. Su evolución ocasiona la aparición de una desnutrición calórica severa que requiere una valoración nutricional completa con el método SENPE-SEDOM. Dicha situación se agrava con el tratamiento quirúrgico y oncológico, desarrollando una disfagia mecánica grave, valorada y diagnosticada con el Método de Exploración Clínica Volumen-Viscosidad (MECV-V). El paciente requiere progresivas adaptaciones dietéticas tanto de textura como de aporte nutricional, precisando el uso de sonda de alimentación por gastrostomía y de nutrición enteral a través de ella. La finalidad es mejorar el estado nutricional, que había empeorado…
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
2016
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, lin…