A5043780570- Neuroendocrine Tumor Research Advances
- Neuroblastoma Research and Treatments
- Multiple Myeloma Research and Treatments
- RNA and protein synthesis mechanisms
- Sarcoidosis and Beryllium Toxicity Research
- Sarcoma Diagnosis and Treatment
- Ion Channels and Receptors
- Lung Cancer Research Studies
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Viral-associated cancers and disorders
- Lymphoma Diagnosis and Treatment
- Systemic Lupus Erythematosus Research
- Cerebrospinal fluid and hydrocephalus
- Genetic and Kidney Cyst Diseases
- Trypanosoma species research and implications
- Lung Cancer Treatments and Mutations
- Peptidase Inhibition and Analysis
- Vasculitis and related conditions
- Mast cells and histamine
- Spinal Fractures and Fixation Techniques
- Chemotherapy-related skin toxicity
- Drug-Induced Adverse Reactions
- Pancreatic and Hepatic Oncology Research
- Toxin Mechanisms and Immunotoxins
- Dermatological and COVID-19 studies
Hospital Universitario Miguel Servet
1998-2022
Harvard University
2018-2022
Boston Children's Hospital
2019
Brigham and Women's Hospital
2019
Harvard University Press
2018
The human gut bacterial genotoxin colibactin is a possible key driver of colorectal cancer (CRC) development. Understanding colibactin's biological effects remains difficult owing to the instability proposed active species and complexity microbiota. Here, we report small molecule boronic acid inhibitors biosynthesis. Designed mimic biosynthetic precursor precolibactin, these compounds potently inhibit colibactin-activating peptidase ClbP. Using biochemical assays crystallography, show that...
Abstract Colibactin, a DNA cross-linking agent produced by gut bacteria, is implicated in colorectal cancer. Its biosynthesis uses prodrug resistance mechanism: non-toxic precursor assembled the cytoplasm activated after export to periplasm. This activation mediated ClbP, an inner-membrane peptidase with N-terminal periplasmic catalytic domain and C-terminal three-helix transmembrane domain. Although required for colibactin activation, its role catalysis unclear. Our structure of full-length...
To identify the genetic cause of disease in a form congenital spinal muscular atrophy and arthrogryposis (CSMAA).A 2-year-old boy was diagnosed with multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis, diminished lower limb movement. Whole-exome sequencing (WES) performed on proband family members. In silico modeling protein structure heterologous expression cytotoxicity assays were to validate pathogenicity identified variant.WES revealed homozygous...
COVID-19 outcomes in population with systemic autoimmune diseases (SAD) remain poorly understood. The aim was to examine demographic and clinical factors associated infection people rheumatic disease.Two phases cross-sectional survey of individuals disease April 2020 October 2020. COVID infection, severity disease, age, sex, smoking status, underlying diagnosis, comorbidities medications taken immediately prior were analyzed.A total 1,529 autoimmunity diagnosis included. Out 50 positive...
Systemic lupus erythematosus (SLE) is the connective tissue disorder in which neuropsychiatric complications are most often seen. The prevalence of peripheral neuropathy varies from 5 to 27% depending on series cases described, with subclinical forms being frequent.To determine a group patients SLE, define their characteristics, and investigate any possible associations clinico analytical parameters disease. PATIENTS AND METHODS. 32 SLE were diagnosed an Internal Medicine Outpatient Clinic...
Wegener's granulomatosis is a systemic vasculitis which, in its classical form, characterized by involvement of the superior and inferior respiratory tract kidneys. The may be multisystemic. Ophthalmic neurological are common (22% 54% those affected respectively). When considering nervous system, commonest finding peripheral neuropathy, particularly form multiple mononeuritis. Meningeal exceptional.We present case with meningeal involvement, studied using CT MR. findings imaging techniques...
<h3>Objectives</h3> To characterize the main features at presentation of sarcoidosis associated with development end-stage organ failure in a large multicenter cohort patients from Southern Europe. <h3>Methods</h3> In January 2017, Spanish National Registry Sarcoidosis (SARCOGEAS-SEMI) included 1082 consecutive diagnosed according to ATS/ERS/WASOG 1999 statement and extrathoracic involvement 2014 WASOG instrument. The was assessed last visit. <h3>Results</h3> consisted 618 (57%) women 464...
<h3>Objectives</h3> To evaluate the temporal association between diagnosis of neoplasia and sarcoidosis in a large cohort Spanish patients with sarcoidosis. <h3>Methods</h3> In January 2016, Autoimmune Diseases Study Group (GEAS-SEMI) created national registry (SARCOGEAS) Sarcoidosis was diagnosed criteria proposed by ATS/ERS/WASOG 1999 statement, extrathoracic disease 2014 WASOG instrument. Diagnosis recorded before after <h3>Results</h3> The included 1082 (82% biopsy-proven, 618 women,...