Publications by authors named "Lina-Maria Castano-Jaramillo"
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
J Allergy Clin Immunol Pract
April 2023
Article Synopsis
- Hereditary actin-related protein 2/3 complex subunit 1B deficiency leads to various health issues like recurrent infections, asthma, eczema, and bleeding, as seen in six patients from four Mexican families studied.
- The patients exhibited a mix of symptoms, including high levels of certain immunoglobulins and platelet abnormalities, with genetic testing revealing notable variants in some and identifying similar cases in other reports.
- The study highlights the diverse clinical manifestations of this deficiency, contributing new insights such as keloid scars and a potential genetic link between families due to a novel deletion in a specific gene region.
Introduction: The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.
Objective: We aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology.
Methods: After informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells.
Background: Information on anaphylaxis among recipients of vaccines against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains scarce.
Objective: To identify the observed incidence of anaphylaxis in recipients of different anti-SARS-CoV-2 vaccines.
Methods: A nationwide observational study among recipients of 61,414,803 doses of seven different anti-SARS-CoV-2 vaccines, describing the incidence and characteristics of adult patients (age ≥ 18 years) who developed anaphylaxis as an adverse event following immunization (AEFI) against SARS-CoV-2 vaccines between December 24, 2020, and October 15, 2021, in Mexico.
Article Synopsis
- - Griscelli syndrome (GS) is a rare genetic disorder that comes in three types, each with unique genetic and clinical characteristics, and is marked by pigment distribution changes.
- - A case study of a girl with GS showed severe neurological symptoms, silvery hair, and skin lesions, leading to a diagnosis that identified issues with her immune system and liver function.
- - Different types of GS are associated with varying neurological impacts, classified mainly as GS type 1 (related to neuronal development) and GS type 2 (linked to hemophagocytic lymphohistiocytosis), which affects treatment approaches.
Background: Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than 5 years. In the absence of an available, affordable diagnostic test, detailed clinical history and physical examination are still fundamental to make a diagnosis.
Methods: We present five representative cases with KD-like presentations: systemic onset juvenile idiopathic arthritis, mycoplasma-induced rash and mucositis, staphylococcal scalded skin syndrome, BCGosis, and the recently described multisystemic inflammatory syndrome in children (MIS-C) associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) virus.
Major histocompatibility complex class II deficiency is a rare case of PID. Specific recommendations for hematopoietic stem cell transplant, the only curative treatment option, are still lacking. This meta-analysis aims to identify the factors associated with better prognosis in these patients.
View Article and Find Full Text PDFA high proportion of patients on hemodialysis persist with low hemoglobin levels despite receiving treatment with erythropoiesis-stimulating agents. A registered nurse-driven renal anemia protocol was designed and implemented by a team in a pediatric hemodialysis unit. We compared proportion of patients achieving the target hemoglobin (Hgb) and transferrin saturation (TSAT) before and after the implementation of the protocol.
View Article and Find Full Text PDFWe present the case of an 8-year-old girl with hemophagocytic lymphohistiocytosis secondary to a infection. She received antibiotic treatment and intravenous immunoglobulin with complete resolution of the symptoms. We present a review of previously reported pediatric cases and propose a gradual approach to treatment.
View Article and Find Full Text PDF[Clinical and microbiological characteristics of skin and soft tissue infections caused by Staphylococcus aureus in children in a hospital in Medellin from 2013 to 2015].
Rev Chilena Infectol
October 2017
Background: Skin and soft tissue infections (SSTI) are very common in children and Staphylococcus aureus is the main agent, with an increase of methicillin resistant strains (MRSA) in recent years.
Aim: To identify the frequency of MRSA in skin and soft tissue infections (SSTI) in children from a high complex hospital in Medellin, Colombia.
Methods: This is a descriptive, retrospective study, information was obtained from medical records.
Unlabelled: Chikungunya virus infection is a disease transmitted by vectors, in which vertical transmission was described in years 2005-2006. An infection rate up to 49% in neonates born from mothers with active viremia during labor has been observed. Perinatal infection could results in serious complications and potential cognitive impairment.
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