Publications by authors named "Luis Garcia Alonso"

Fasciclin 2 (Drosophila NCAM) is a homophilic Cell Adhesion Molecule expressed at moderate levels in the proliferating epithelial cells of imaginal discs, where it engages EGFR in a cell autonomous auto-stimulatory loop that promotes growth along larval development. In addition, Fasciclin 2 is expressed at high levels in the pre-differentiating cells of imaginal discs. Gain-of-function genetic analysis shows that Fasciclin 2 acts as a non-cell autonomous repressor of EGFR when high expression levels are induced during imaginal disc growth.

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How cell to cell interactions control local tissue growth to attain a species-specific organ size is a central question in developmental biology. The Drosophila Neural Cell Adhesion Molecule, Fasciclin 2, is expressed during the development of neural and epithelial organs. Fasciclin 2 is a homophilic-interaction protein that shows moderate levels of expression in the proliferating epithelia and high levels in the differentiating non-proliferative cells of imaginal discs.

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The high degree of religious/spiritual involvement that brings meaning and purpose to a patients' life, especially when they are weakened by pain, is among the various reasons to consider the spiritual dimension in clinical practice. This involvement may influence medical decisions and, therefore, should be identified in the medical history of a patient (anamnesis). To verify the opinion of undergraduate medical students of the Paulista School of Medicine - Federal University of São Paulo regarding the use of a patient's Spirituality/Religiosity as a therapeutic resource in clinical practice.

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Aims: Cardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease in MFS. This study used morphological and ultrastructural analysis to the understanding of the development of cardiovascular phenotypes of the the mgΔloxPneo model for MFS.

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Primary effusion lymphoma (PEL) is a rare B cell lymphoproliferative disorder that arises predominantly in body cavities causing malignant effusions. The incidence of PEL is very low, accounting for approximately 4% of all HIV-associated non-Hodgkin lymphomas. PEL has also been described in elderly patients and after solid-organ transplantation.

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Severe hemorrhagic events occur in a significant fraction of acute promyelocytic leukemia patients, either at presentation and/or early after starting therapy, leading to treatment failure and early deaths. However, identification of independent predictors for high-risk of severe bleeding at diagnosis, remains a challenge. Here, we investigated the immunophenotype of bone marrow leukemic cells from 109 newly diagnosed acute promyelocytic leukemia patients, particularly focusing on the identification of basophil-related features, and their potential association with severe bleeding episodes and patient overall survival.

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Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes.

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Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with Duane anomaly. It is a rare autosomal dominant disorder determined by variants in the SALL4 gene which encodes a transcription factor with eight zinc finger motifs. Here we report a novel heterozygous frameshift variant, c.

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Objective: To investigate the correlation between pain measurements performed using a visual analogue scale (VAS) and pressure pain threshold (PPT) in individuals with temporomandibular disorders who underwent conservative treatment.

Study Design: This prospective study assessed 78 individuals diagnosed with myofascial pain, and the treatment consisted of counseling and self-care therapy sessions. Pain was assessed by means of a VAS and PPT at baseline (T0), after 15 to 30 days (T1), and after 75 to 90 days (T2).

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Previous studies have shown the reproducibility of the 2008 World Health Organization (WHO) classification in myelodysplastic syndromes (MDS), especially when multilineage dysplasia or excess of blasts are present. However, there are few data regarding the reproducibility of MDS with unilineage dysplasia. The revised International Prognostic Scoring System R-IPSS described two new morphological categories, distinguishing bone marrow (BM) blast cell count between 0-2 % and >2- < 5 %.

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Objective. To characterize morphologically and ultrastructurally using light microscopy, the scanning electron microscopy and transmission electron microscopy the intima synovial of the temporomandibular joint (TMJ) of human fetuses between the 10th and the 38th week of development. Materials and Methods.

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Ring chromosome 10--r(10)--is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.

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Article Synopsis
  • The development of the nervous system involves various cell-to-cell communication methods that help neurons and axons navigate and form complex networks, but the coordination of these processes is not well understood.
  • Cross-regulatory interactions and redundancy in signaling pathways can enhance the precision of these guidance systems.
  • L1CAM, an immunoglobulin superfamily protein, physically interacts with erbB receptors, which boosts their responsiveness to neuregulins during neuron development and may help target specific cells or axons that engage with L1CAM.
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Migration of neurons during cortical development is often assumed to rely on purely post-proliferative reelin signaling. However, Notch signaling, long known to regulate neural precursor formation and maintenance, is required for the effects of reelin on neuronal migration. Here, we show that reelin gain-of-function causes a higher expression of Notch target genes in radial glia and accelerates the production of both neurons and intermediate progenitor cells.

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Toriello Carey syndrome is a rare recessive autosomal disease whose clinical manifestations are more evident in males. Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, mental disability, convulsions, atrial septal defect, pulmonary artery stenosis, pyloric stenosis, and hypospadias. Facial and cranial alterations may occur, including hypertelorism, telecanthus, divergent strabismus, malformed ears, anteverted nares, retrognathism, and cleft palate.

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Acute inflammatory response is one of the main defensive mechanisms of the lungs. This work tried to assess this response through an immunohistochemical analysis of rat lungs mechanically injured by open manipulation, analyzing the COX-2 inflammatory marker, in addition to performing a microscopic histological analysis using the hematoxylin and eosin stain. The correlation between this response and the degree of manipulation over different lengths of time and degrees of injury was also investigated.

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Purpose: The aim of this study was to determine by computed tomography (CT) the interalveolar distance on mandible relative to the canine, first and second pre-molar, and the thickness of the cortical bone in the same region.

Methods: A hundred adult cadaveric dentate human hemi-mandibles were examined. A point (P) above the upper margin of the mental foramen was determined, the height at which monocortical screws are inserted to place miniplate according to the technique to treat mandibular fracture.

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L1-cell adhesion molecule (L1-CAM) belongs to a functionally conserved group of neural cell adhesion molecules that are implicated in many aspects of nervous system development. In many neuronal cells the adhesive function of L1-type CAMs induces cellular signaling processes that involves the activation of neuronal tyrosine protein kinases and among other functions regulates axonal growth and guidance. Mutations in the human L1-CAM gene are responsible for a complex neurodevelopmental condition, generally referred to as L1 syndrome.

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The objective of this paper was to study the morphology of the articular disc and analyze the immunohistochemical expression of the marker of type IV collagen in the articular disc of the temporomandibular joint (TMJ) of human fetuses of different gestational ages. Twenty TMJ from human fetuses aging from 21 to 24 weeks of intrauterine life were studied. The TMJ were supplied by the Federal University of Uberaba.

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Several sensitive methods for the detection of JAK2 V617F mutation have been published recently, most of them based on Real Time polymerase chain reaction (PCR). However, only some of them have performed studies of diagnostic validity. This study compares three methods based on Real Time PCR to detect JAK2 V617F mutation: two based on hybridization probes (HP) and peptide nucleic acid probe (PNA) and a third employing allele specific oligonucleotide primers for JAK2 V617F quantification.

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Treacher Collins syndrome usually affects bilateral and symmetric structures that include the orbits, mandible, and ears. The purpose of this report is to describe a clinical case of the syndrome, focusing on the anatomy of the temporomandibular joint, which was assessed using the computed tomography method. Clinical examination included evaluation of mandibular dynamics, investigation of temporomandibular dysfunction, and measurement of bite force.

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