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2.
Mol Biol Rep ; 47(2): 1381-1391, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31833031

RESUMO

The Nomo1 gene mediates a wide range of biological processes of importance in embryonic development. Accordingly, constitutive perturbation of Nomo1 function may result in myriad developmental defects that trigger embryonic lethality. To extend our understanding of Nomo1 function in postnatal stages and in a tissue-specific manner, we generated a conditional knockout mouse model of Nomo1. To achieve this, we used clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology in C57Bl/6J mouse zygotes to generate a new mouse model in which exon 3 of the Nomo1 gene is specifically flanked (or floxed) by LoxP sites (Nomo1f/f). Nomo1f/f mouse embryonic fibroblasts were transduced with a Cre adenovirus and efficiently recombined between LoxP sites. Genomic and expression studies in Nomo1-transduced MEFs demonstrated that the Nomo1 exon 3 is ablated. Western blot assay showed that no protein or early truncated protein is produced. In vivo assay crossing Nomo1f/f mouse with a Msi1-CRE transgenic mouse corroborated the previous findings and it showed Nomo1 exon 3 deletion at msi1+ cell compartment. This short technical report demonstrates that CRISPR/Cas9 technology is a simple and easy method for creating conditional mouse models. The Nomo1f/f mouse will be useful to researchers who wish to explore the role of Nomo1 in any developmental stage or in a tissue-specific manner.


Assuntos
Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas/genética , Proteínas de Membrana/genética , Proteína Nodal/genética , Alelos , Animais , Sequência de Bases , Proteína 9 Associada à CRISPR/metabolismo , Modelos Animais de Doenças , Éxons/genética , Integrases/metabolismo , Proteínas de Membrana/metabolismo , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Mosaicismo , Mutação/genética , Proteína Nodal/metabolismo , RNA Guia de Cinetoplastídeos/metabolismo
3.
Breast Cancer Res Treat ; 174(2): 543-550, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30552643

RESUMO

PURPOSE: Disruption of splicing motifs by genetic variants can affect the correct generation of mature mRNA molecules leading to aberrant transcripts. In some cases, variants may alter the physiological transcription profile composed of several transcripts, and an accurate in vitro evaluation is crucial to establish their pathogenicity. In this study, we have characterized a novel PALB2 variant c.3201+5G>T identified in a breast cancer family. METHODS: Peripheral blood RNA was analyzed in two carriers and ten controls by RT-PCR and Sanger sequencing. The splicing profile was also characterized by semi-quantitative capillary electrophoresis and quantitative PCR. RAD51 foci formation and PALB2 LOH status were evaluated in primary breast tumor samples from the carriers. RESULTS: PALB2 c.3201+5G>T disrupts intron 11 donor splice site and modifies the abundance of several alternative transcripts (∆11, ∆12, and ∆11,12), also present in control samples. All transcripts are predicted to encode for non-functional proteins. Semi-quantitative and quantitative analysis of PALB2 full-length transcript indicated haploinsufficiency in carriers. One tumor exhibited PALB2 LOH and RAD51 assay indicated homologous recombination deficiency in both tumors. CONCLUSIONS: Our results support a pathogenic classification for PALB2 c.3201+5G>T, highlighting the impact of variants causing an imbalanced expression of natural RNA isoforms in cancer susceptibility.


Assuntos
Processamento Alternativo , Neoplasias da Mama/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Mutação em Linhagem Germinativa , Polimorfismo de Nucleotídeo Único , Feminino , Perfilação da Expressão Gênica , Predisposição Genética para Doença , Humanos , Perda de Heterozigosidade , Pessoa de Meia-Idade , Linhagem , Análise de Sequência de RNA
4.
Proc Natl Acad Sci U S A ; 112(50): 15486-91, 2015 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-26621716

RESUMO

Dominance hierarchies are integral aspects of social groups, yet whether personality traits may predispose individuals to a particular rank remains unclear. Here we show that trait anxiety directly influences social dominance in male outbred rats and identify an important mediating role for mitochondrial function in the nucleus accumbens. High-anxious animals that are prone to become subordinate during a social encounter with a low-anxious rat exhibit reduced mitochondrial complex I and II proteins and respiratory capacity as well as decreased ATP and increased ROS production in the nucleus accumbens. A causal link for these findings is indicated by pharmacological approaches. In a dyadic contest between anxiety-matched animals, microinfusion of specific mitochondrial complex I or II inhibitors into the nucleus accumbens reduced social rank, mimicking the low probability to become dominant observed in high-anxious animals. Conversely, intraaccumbal infusion of nicotinamide, an amide form of vitamin B3 known to enhance brain energy metabolism, prevented the development of a subordinate status in high-anxious individuals. We conclude that mitochondrial function in the nucleus accumbens is crucial for social hierarchy establishment and is critically involved in the low social competitiveness associated with high anxiety. Our findings highlight a key role for brain energy metabolism in social behavior and point to mitochondrial function in the nucleus accumbens as a potential marker and avenue of treatment for anxiety-related social disorders.


Assuntos
Encéfalo/fisiopatologia , Dominação-Subordinação , Mitocôndrias/metabolismo , Comportamento Social , Animais , Ansiedade , Complexo de Proteínas da Cadeia de Transporte de Elétrons/metabolismo , Masculino , Niacinamida/metabolismo , Núcleo Accumbens/fisiopatologia , Ratos Wistar
5.
Chemistry ; 21(6): 2489-500, 2015 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-25522111

RESUMO

Enantiopure ß-amino acids represent interesting scaffolds for peptidomimetics, foldamers and bioactive compounds. However, the synthesis of highly substituted analogues is still a major challenge. Herein, we describe the spontaneous rearrangement of 4-carboxy-2-oxoazepane α,α-amino acids to lead to 2'-oxopiperidine-containing ß(2,3,3) -amino acids, upon basic or acid hydrolysis of the 2-oxoazepane α,α-amino acid ester. Under acidic conditions, a totally stereoselective synthetic route has been developed. The reordering process involved the spontaneous breakdown of an amide bond, which typically requires strong conditions, and the formation of a new bond leading to the six-membered heterocycle. A quantum mechanical study was carried out to obtain insight into the remarkable ease of this rearrangement, which occurs at room temperature, either in solution or upon storage of the 4-carboxylic acid substituted 2-oxoazepane derivatives. This theoretical study suggests that the rearrangement process occurs through a concerted mechanism, in which the energy of the transition states can be lowered by the participation of a catalytic water molecule. Interestingly, it also suggested a role for the carboxylic acid at position 4 of the 2-oxoazepane ring, which facilitates this rearrangement, participating directly in the intramolecular catalysis.

6.
Poult Sci ; 103(6): 103623, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38555757

RESUMO

Infectious Bursal Disease is a highly contagious disease that affects young chickens and leads to significant economic losses. Its causal agent is a double-stranded RNA virus that, due to its high error rate during the replication process, gives rise to a constant generation of new virus variants. Until 2014, strains of Infectious Bursal Diseases Virus (IBDV) belonging to genogroup 4 predominated in Argentina, but there have been no reports since then regarding the circulating genogroups in poultry. In this study, 11 recent sequences of Argentine from the hypervariable region of VP2 protein (hvVP2) were analyzed to determine their genogroup, origin, evolution, and amino acid sequence. Samples from chickens showing signs of IBDV infection were collected, and the hvVP2 region was amplified using RT-PCR, followed by sequencing. The results indicated that the analyzed strains belong to genogroup 2, with an estimated evolutionary rate of 1.74 × 10-3 substitutions/site/year. It is speculated that the predominant group of sequences began to spread in Argentina around 2014 and had its origins in China. Another sample is related to strains from South Korea and is not closely linked to the main group. Furthermore, the predicted amino acid sequences show similarity to strains that can evade vaccine-induced immunity. These findings underscore the importance of active surveillance in poultry to mitigate losses caused by IBDV.


Assuntos
Infecções por Birnaviridae , Galinhas , Vírus da Doença Infecciosa da Bursa , Filogenia , Doenças das Aves Domésticas , Vírus da Doença Infecciosa da Bursa/genética , Animais , Infecções por Birnaviridae/veterinária , Infecções por Birnaviridae/virologia , Infecções por Birnaviridae/epidemiologia , Argentina/epidemiologia , Doenças das Aves Domésticas/virologia , Doenças das Aves Domésticas/epidemiologia , Proteínas Estruturais Virais/genética , Genótipo , Sequência de Aminoácidos , Variação Genética
7.
Mod Rheumatol Case Rep ; 7(1): 215-218, 2023 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-35134976

RESUMO

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare idiopathic autoinflammatory bone disease characterised by noninfective inflammation of bones. Diagnostic approach is challenging and requires exclusion of other causes such as malignancies or infections. Nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids are usually applied as first-line therapy in CRMO patients; however, some cases require more intensive therapy with second-line agents to control disease activity. We hereby describe the use of colchicine as a nonconventional second-line disease-modifying antirheumatic drug in two pediatric patients with CRMO refractory to NSAIDs and corticosteroids. Our data indicate that colchicine might prove an important area for future research as a potential therapeutic option with easy administration, low cost, and a good safety profile in CRMO patients refractory to first-line therapy.


Assuntos
Colchicina , Osteomielite , Humanos , Criança , Colchicina/uso terapêutico , Osteomielite/diagnóstico , Osteomielite/tratamento farmacológico , Osteomielite/etiologia , Anti-Inflamatórios não Esteroides/uso terapêutico , Corticosteroides/uso terapêutico
8.
J Chromatogr A ; 1687: 463651, 2023 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-36462477

RESUMO

An analytical method for the determination of residual acrylamide in cosmetic products containing potential acrylamide-releasing ingredients is presented. The method is based on vortex-assisted reversed-phase dispersive liquid-liquid microextraction (VA-RP-DLLME) to extract and preconcentrate acrylamide by using water as extraction solvent taking advantage the highly polar behavior of this analyte, followed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) for its determination. Under optimized conditions (5 mL toluene as supporting solvent, 50 µL of water as extraction solvent, 1 min for vortex extraction time) the method was properly validated obtaining good analytical features (linearity up to 20 ng mL-1, method limits of detection and quantification of 0.51 and 1.69 ng g-1, respectively, enrichment factor of 52, and good repeatability (RSD < 4.1%)). The proposed analytical method was applied to the determination of acrylamide in commercial samples that were weighed and dispersed in the minimum quantity of methanol (50 µL) by vortex stirring before applying the VA-RP-DLLME procedure. Through the pretreatment of the sample and the use of acrylamide-d3 as surrogate, the matrix effect was overcome, obtaining good relative recovery values (88-108%). The proposed method has shown efficacy, simplicity, and speed, and it allows the determination of acrylamide at trace levels easily, which could make it very useful for companies in the quality control of cosmetic products containing potential acrylamide-releasing ingredients to fulfill the safety limits imposed by European Regulation.


Assuntos
Cosméticos , Microextração em Fase Líquida , Cromatografia Líquida , Microextração em Fase Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Acrilamida/análise , Limite de Detecção , Solventes/química , Água/química , Cosméticos/química
9.
Eur J Intern Med ; 98: 69-76, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35115232

RESUMO

OBJECTIVE: To compare the severity of pulmonary embolism (PE) between patients with and without COVID, and to assess the association between severity and in-hospital-mortality. METHODS: We performed an analysis of 549 COVID (71.3% PCR-confirmed) and 439 non-COVID patients with PE consecutively included by 62 Spanish and 16 French emergency departments. PE-severity was assessed by size, the presence of right ventricular dysfunction (RVD), and the sPESI. The association of PE-severity and in-hospital-mortality was assessed both in COVID and non-COVID patients, and the interaction of COVID status and PE severity/outcome associations was also evaluated. RESULTS: COVID patients had PEs of smaller size (43% vs 56% lobar or larger, 42% vs. 35% segmental and 13% vs. 9% subsegmental, respectively; p = 0.01 for trend), less RVD (22% vs. 16%, p =0.02) and lower sPESI (p =0.03 for trend). Risk of in-hospital death was higher in COVID patients (12.8% vs. 5.3%, p < 0.001). PE-severity assessed by RVD and sPESI was independently associated with in-hospital-mortality in COVID patients, while PE size and sPESI were significantly associated with in-hospital-mortality in non-COVID. COVID status showed a significant interaction in the association of PE size and outcome (p =0.01), with OR for in-hospital mortality in COVID and non-COVID patients with lobar or larger PE of 0.92 (95%CI=0.19-4.47) and 4.47 (95%CI=1.60-12.5), respectively. Sensitivity analyses using only PCR-confirmed COVID cases confirmed these results. CONCLUSION: COVID patients present a differential clinical picture, with PE of less severity than in non-COVID patients. An increased sPESI was associated with the risk of mortality in both groups but, PE size did not seem to be associated with in-hospital mortality in COVID patients.


Assuntos
COVID-19 , Embolia Pulmonar , Mortalidade Hospitalar , Humanos , Prognóstico , Medição de Risco , Índice de Gravidade de Doença
10.
Nat Commun ; 13(1): 151, 2022 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-35013207

RESUMO

Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.


Assuntos
Linfócitos B/patologia , DNA Intergênico/genética , Predisposição Genética para Doença , Mieloma Múltiplo/genética , Proteínas de Neoplasias/genética , Plasmócitos/patologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/imunologia , Protocolos de Quimioterapia Combinada Antineoplásica , Linfócitos B/imunologia , Sequência de Bases , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/imunologia , Cromatina/química , Cromatina/imunologia , Proteínas Cromossômicas não Histona/genética , Proteínas Cromossômicas não Histona/imunologia , DNA Intergênico/imunologia , Regulação Neoplásica da Expressão Gênica , Fatores de Troca do Nucleotídeo Guanina/genética , Fatores de Troca do Nucleotídeo Guanina/imunologia , Humanos , Padrões de Herança , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo/imunologia , Mieloma Múltiplo/patologia , Proteínas de Neoplasias/imunologia , Plasmócitos/imunologia , Polimorfismo Genético , Cultura Primária de Células , Locos de Características Quantitativas , Proteínas Repressoras/genética , Proteínas Repressoras/imunologia , Medição de Risco , Fatores de Elongação da Transcrição/genética , Fatores de Elongação da Transcrição/imunologia
11.
Blood Cancer J ; 11(4): 76, 2021 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-33875642

RESUMO

Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 × 10-14). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type. Moreover, rs75712673 influences transcriptional activity in luciferase assays, and shows a chromatin looping interaction with the SOHLH2 promoter. Our work provides novel insight into MM susceptibility.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Mieloma Múltiplo/genética , Idoso , Feminino , Frequência do Gene , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Células Germinativas/metabolismo , Mutação em Linhagem Germinativa , Humanos , Desequilíbrio de Ligação , Masculino , Polimorfismo de Nucleotídeo Único
12.
Arch Argent Pediatr ; 116(5): e655-e658, 2018 10 01.
Artigo em Espanhol | MEDLINE | ID: mdl-30204992

RESUMO

Gynecomastia consists of breast enlargement due to a hormonal imbalance between estrogens and androgens. Unilateral and important breast growth requires ruling underlying pathologic disorders out. Mechanical cause is uncommon, causing enlargement by repeated stimulation. We report a 6-year-old boy with unilateral gynecomastia. Hyperprolactinemia is the only abnormal finding at laboratory tests. After repeated inquiries, a continuous breast selfstimulation is detected. Its relation with gynecomastia is verified because prolactin normalizes and breast regressed in further revisions, after stopping stimulus.


La ginecomastia es el crecimiento de la mama por un desequilibrio hormonal entre estrógenos y andrógenos. Un crecimiento importante y unilateral requiere descartar patologías subyacentes. Una causa poco frecuente es la traumática, que provoca aumento de tamaño por estimulación repetida. Se presenta el caso de un niño de 6 años con ginecomastia unilateral. Se destaca como único hallazgo en las pruebas complementarias hiperprolactinemia. Rehistoriando, se detecta una continua autoestimulación mamaria manual y oral a través de mordiscos de meses de evolución. Tras el cese del estímulo, se observa la involución de la mama y la normalización de los niveles de prolactina séricos.


Assuntos
Ginecomastia/etiologia , Hiperprolactinemia/etiologia , Prolactina/sangue , Criança , Ginecomastia/diagnóstico , Humanos , Hiperprolactinemia/diagnóstico , Masculino
13.
Front Genet ; 9: 366, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30233647

RESUMO

In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural splice sites of clinically relevant genes in hereditary breast/ovarian cancer (HBOC) and Lynch syndrome. A study divided into two stages was used to evaluate SSF-like, MaxEntScan, NNSplice, HSF, SPANR, and dbscSNV tools. A discovery dataset of 99 variants with unequivocal results of RNA in vitro studies, located in the 10 exonic and 20 intronic nucleotides adjacent to exon-intron boundaries of BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, ATM, BRIP1, CDH1, PALB2, PTEN, RAD51D, STK11, and TP53, was collected from four Spanish cancer genetic laboratories. The best stand-alone predictors or combinations were validated with a set of 346 variants in the same genes with clear splicing outcomes reported in the literature. Sensitivity, specificity, accuracy, negative predictive value (NPV) and Mathews Coefficient Correlation (MCC) scores were used to measure the performance. The discovery stage showed that HSF and SSF-like were the most accurate for variants at the donor and acceptor region, respectively. The further combination analysis revealed that HSF, HSF+SSF-like or HSF+SSF-like+MES achieved a high performance for predicting the disruption of donor sites, and SSF-like or a sequential combination of MES and SSF-like for predicting disruption of acceptor sites. The performance confirmation of these last results with the validation dataset, indicated that the highest sensitivity, accuracy, and NPV (99.44%, 99.44%, and 96.88, respectively) were attained with HSF+SSF-like or HSF+SSF-like+MES for donor sites and SSF-like (92.63%, 92.65%, and 84.44, respectively) for acceptor sites. We provide recommendations for combining algorithms to conduct in silico splicing analysis that achieved a high performance. The high NPV obtained allows to select the variants in which the study by in vitro RNA analysis is mandatory against those with a negligible probability of being spliceogenic. Our study also shows that the performance of each specific predictor varies depending on whether the natural splicing sites are donors or acceptors.

14.
J Cancer Res Clin Oncol ; 144(12): 2495-2513, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30306255

RESUMO

PURPOSE: Few and small studies have been reported about multigene testing usage by massively parallel sequencing in European cancer families. There is an open debate about what genes should be tested, and the actionability of some included genes is under research. METHODS: We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). RESULTS: We identified 16 patients who carried a high- or moderate-risk pathogenic variant in eight genes: 4 PALB2, 3 ATM, 2 RAD51D, 2 TP53, 2 APC, 1 BRIP1, 1 PTEN and 1 PMS2. These findings led to increased surveillance or prevention options in 12 patients and predictive testing in their family members. We detected 383 unique variants of uncertain significance in known cancer genes, of which 35 were prioritized in silico. Eighteen loss-of-function variants were detected in candidate BC/OC genes in 17 patients (1 BARD1, 1 ERCC3, 1 ERCC5, 2 FANCE, 1 FANCI, 2 FANCL, 1 FANCM, 1 MCPH1, 1 PPM1D, 2 RBBP8, 3 RECQL4 and 1 with SLX4 and XRCC2), three of which also carry pathogenic variants in known cancer genes. CONCLUSIONS: Eight percent of the BRCA1/2 negative patients carry pathogenic variants in other actionable genes. The multigene panel usage improves the diagnostic yield in HBOC testing and it is an effective tool to identify potentially new candidate genes.


Assuntos
Biomarcadores Tumorais , Genes BRCA1 , Genes BRCA2 , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Adulto , Alelos , Biologia Computacional/métodos , Feminino , Predisposição Genética para Doença , Testes Genéticos , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Análise de Sequência de DNA , Espanha , Adulto Jovem
15.
Rev. colomb. reumatol ; 29(2): 131-136, Apr.-June 2022. tab
Artigo em Inglês | LILACS | ID: biblio-1423916

RESUMO

ABSTRACT Introduction: Chronic recurrent multifocal osteomyelitis (CRMO), also called chronic non-bacterial osteomyelitis, is an autoinflammatory disease characterized by bone involvement, recurrent flare-ups, and the lack of microbiological isolation. It is a diagnosis of exclusion, and the fundamental basis of treatment is non-steroidal anti-inflammatory drugs. The objective of the study is to describe our experience as a result of three girls diagnosed with CRMO, highlighting the clinical presentation, the findings in the complementary tests, the treatment, and the evolution of the disease. Patients and methods: Retrospective chart review of children with CRMO in the last 5 years, being followed-up in a pediatric rheumatology clinic in a tertiary center. Results: The cases are presented of 3 patients diagnosed with CRMO, all of them young girls, with a mean age of 11 years, who consulted due to pain and functional impotence. It was in single location in two cases, and the other with several sources of pain, at cervical and lumbar level, associated with weakness of the upper and lower limbs. Two of the cases received antibiotic treatment. One girl responded to treatment with anti-inflammatory drugs and another required combining corticosteroids. The remaining case, in addition to anti-inflammatory drugs and corticosteroids, required intravenous pamidronate. Conclusions: With this study, and despite the small sample size, the aim was to highlight the importance of this, in many cases unknown and underdiagnosed, pathology, and to stress the importance of establishing a diagnostic and therapeutic protocol for the correct approach to this disease.


RESUMEN Introducción: La osteomielitis crónica multifocal recurrente (OCMR), también conocida como osteomielitis crónica no bacteriana, es una enfermedad autoinflamatoria caracterizada por afectación ósea, de curso en brotes y en ausencia de aislamiento microbiológico. El diagnóstico es de exclusión y el pilar fundamental del tratamiento son los antiinflamatorios no esteroideos (AINES). El objetivo del estudio es describir nuestra experiencia de tres niñas diagnosticadas de OCMR, destacando la presentación clínica, los hallazgos en las pruebas complementarias, el tratamiento y la evolución de la enfermedad. Pacientes y métodos: Revisión retrospectiva de historias clínicas de niños diagnosticados de OCMR en los últimos cinco años, en seguimiento en consulta de reumatología pediátrica de un hospital terciario. Resultados: Presentamos tres pacientes diagnosticadas de OCMR, todas ellas mujeres adolescentes, con media de edad de 11 años. Consultaron por dolor e impotencia funcional, dos en una única localización y la otra por varios focos de dolor, a nivel cervical y lumbar, asociando debilidad de miembros superiores e inferiores. Con respecto al tratamiento, dos recibieron tratamiento antibiótico. Una niña respondió a antiinflamatorios; otra precisó asociar corticoides, y la restante, además de antiinflamatorios y corticoides, necesitó pamidronato intravenoso. Conclusiones: Con este estudio y a pesar del pequeño tamaño muestral, se pretende resaltar la importancia de esta patología, en muchos casos desconocida e infradiagnosticada, e insistir en la importancia de establecer un protocolo diagnóstico y terapéutico para su correcto abordaje.


Assuntos
Humanos , Feminino , Criança , Adolescente , Osteomielite , Doenças Ósseas Infecciosas , Infecções
19.
Arch. argent. pediatr ; 116(5): 655-658, oct. 2018. tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-973667

RESUMO

La ginecomastia es el crecimiento de la mama por un desequilibrio hormonal entre estrógenos y andrógenos. Un crecimiento importante y unilateral requiere descartar patologías subyacentes. Una causa poco frecuente es la traumática, que provoca aumento de tamaño por estimulación repetida. Se presenta el caso de un niño de 6 años con ginecomastia unilateral. Se destaca como único hallazgo en las pruebas complementarias hiperprolactinemia. Rehistoriando, se detecta una continua autoestimulación mamaria manual y oral a través de mordiscos de meses de evolución. Tras el cese del estímulo, se observa la involución de la mama y la normalización de los niveles de prolactina séricos.


Gynecomastia consists of breast enlargement due to a hormonal imbalance between estrogens and androgens. Unilateral and important breast growth requires ruling underlying pathologic disorders out. Mechanical cause is uncommon, causing enlargement by repeated stimulation. We report a 6-year-old boy with unilateral gynecomastia. Hyperprolactinemia is the only abnormal finding at laboratory tests. After repeated inquiries, a continuous breast selfstimulation is detected. Its relation with gynecomastia is verified because prolactin normalizes and breast regressed in further revisions, after stopping stimulus.


Assuntos
Humanos , Masculino , Criança , Hiperprolactinemia/etiologia , Ginecomastia/etiologia , Prolactina/sangue , Hiperprolactinemia/diagnóstico , Ginecomastia/diagnóstico
20.
Univ. sci ; 22(1): 9-29, Jan.-Apr. 2017. tab, graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-904703

RESUMO

Abstract Between the second semester of 2009 and the first semester of 2011, camera traps were set up in conserved and disturbed habitats in the Otun Quimbaya Flora and Fauna Sanctuary. From a sampling effort of 2,066 camera-days, 673 photographs of 157 independent events were obtained for eight species of wild mammals and a domestic one. Their activity patterns were mainly nocturnal even for those species reported as diurnal. The impact of human interference and exotic species was evident for two species: Tapiruspinchaque and Cerdocyon thous. The former was observed below its altitudinal range with activity patterns mainly crepuscular and nocturnal. The second was observed in the same habitats where domestic dogs were found, with activity patterns mainly crepuscular and nocturnal. These findings suggest that both species have altered their activity patterns. Actions must be focused on decreasing the interaction of these mammals with humans and domestic dogs.


Resumen La información sobre los mamíferos de mediano y gran tamaño que habitan áreas protegidas en Colombia es cada vez más necesaria para impulsar acciones tendientes a su protección. La identificación completa de estas especies, sus números y sus patrones de actividad son esenciales en programas de monitoreo, especialmente por las relaciones entre estos animales y las dinámicas antropogénicas. El presente estudio se llevó a cabo en el Santuario de Flora y Fauna Otún-Quimbaya (Colombia). Entre el segundo semestre de 2009 y el primer semestre de 2011, se colocaron trampas cámara en áreas conservadas y perturbadas del Santuario de Flora y Fauna Otún-Quimbaya. Con un esfuerzo de muestreo de 2066 días-cámara se obtuvieron 673 fotografías de 157 eventos independientes para 8 especies silvestres y una doméstica. Los patrones de actividad observados fueron principalmente nocturnos, incluso para especies reportadas como diurnas. El impacto de la interferencia humana y de las especies exóticas fue evidente en 2 especies: Tapirus pinchaque y Cerdocyon thous. La primera fue observada por debajo de su rango altitudinal con patrones de actividad principalmente crepusculares y nocturnos. La segunda se observó en los mismos hábitats donde se encontraron los perros domésticos, con patrones de actividad principalmente crepusculares y nocturnos. Estos hallazgos sugieren que ambas especies han alterado sus patrones de actividad. Es necesario enfocar acciones en la disminución de la interacción de estos mamíferos con los humanos y con perros domésticos.


Resumen Entre o segundo semestre de 2009 e o primeiro semestre de 2011, câmeras foram armadas em habitats conservados e perturbados no Santuário de Flora e Fauna Otún Quimbaya. A partir de uma amostragem de 2066 dias de instalação da câmera, foram obtidas 673 fotografias de 157 eventos independentes para oito espécies de mamíferos selvagens e uma espécie doméstica. Os padrões de atividade observados eram principalmente noturnos, inclusive para espécies reportadas como diurnas. O impacto da interferência humana e de espécies exóticas foi observado para duas espécies: Tapirus pinchaque e Cerdocyon thous. A primeira foi observada abaixo de seu intervalo de altitude com padrões de atividade majoritariamente crepuscular e noturno. A segunda espécie foi observada nos mesmos habitats em que espécies de cachorros domésticos foram observados, com padrões de atividade majoritariamente crepuscular e noturno. Estes resultados sugerem que ambas as espécies alteraram seus comportamentos padrão. Ações devem ser focalizadas para reduzir a interação de estes mamíferos com os humanos e cães domésticos.


Assuntos
Áreas Protegidas , Mamíferos/classificação , Colômbia
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