RESUMO
Acute and chronic cutaneous graft-versus-host disease (GVHD) are common complications following hematopoietic stem cell transplantation (HSCT) in pediatric patients. In this retrospective study, we explored the risk factors and clinical characteristics of acute and chronic cutaneous GVHD in a case series of children undergoing HSCT at a tertiary referral hospital. We found that 36% of acute cutaneous GVHD was severe and these patients were more likely to have an unrelated donor, and that children with acute cutaneous GVHD who progressed to chronic cutaneous GVHD had a higher proportion of malignant diseases, total body irradiation, and bronchiolitis obliterans compared to those who did not progress to chronic cutaneous GVHD. Our study highlights the importance of identifying and monitoring these high-risk patients to improve the clinical management and outcomes of cutaneous GVHD in pediatric HSCT recipients.
Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Dermatopatias , Humanos , Criança , Estudos Retrospectivos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Dermatopatias/epidemiologia , Dermatopatias/etiologia , Doença Enxerto-Hospedeiro/etiologia , Doença Enxerto-Hospedeiro/complicações , Fatores de RiscoRESUMO
Twin pregnancies with complete hydatidiform mole and coexisting live fetus are very rare, with only about 300 reported cases. This type of pregnancy is considered a high obstetric risk due to the possibility of severe maternal-fetal complications. Although the clinical and ultrasound findings can be highly suggestive of this type of pregnancy, the definitive diagnosis is usually reached by histopathological examination. The differential diagnosis usually includes partial hydatidiform mole and hydropic pregnancies, which can present similar findings in specimens from the first trimester of pregnancy and thus it is important to interpret correctly the differentiating features. The use of immunohistochemistry for p57 can prove very useful, although some cases show an aberrant expression. We present a case of a twin pregnancy with complete hydatidiform mole associated with a live fetus, with magnetic resonance imaging and ultrasound for radiopathological correlation. We discuss the differential diagnosis and the utility of p57 immunohistochemistry.
Assuntos
Mola Hidatiforme , Neoplasias Uterinas , Feminino , Feto/patologia , Humanos , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/patologia , Gravidez , Gravidez de Gêmeos , Gêmeos , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/patologiaRESUMO
Prior work has identified signal sequences and motifs that are necessary and sufficient to target proteins to specific subcellular regions and organelles such as the plasma membrane, nucleus, endoplasmic reticulum, and mitochondria. In contrast, minimal sequence motifs that are sufficient for Golgi localization remain largely elusive. In this work, we identified a 37-amino acid alternative open reading frame (altORF) within the mRNA of the centromere protein CENP-R. This altORF peptide localizes specifically to the cytoplasmic surface of the Golgi apparatus. Through mutational analysis, we identify a minimal 10-amino acid sequence and a critical cysteine residue that are necessary and sufficient for Golgi localization. Pharmacological perturbations suggest that this peptide undergoes lipid modification to promote its localization. Together, our work defines a minimal sequence that is sufficient for Golgi targeting and provide a valuable Golgi marker for live cell imaging.
Assuntos
Cisteína , Complexo de Golgi , Cisteína/metabolismo , Retículo Endoplasmático/metabolismo , Complexo de Golgi/metabolismo , Lipídeos , Sinais Direcionadores de Proteínas , RNA Mensageiro/metabolismoRESUMO
Acute myocarditis is an inflammatory disease of the myocardium, and it can present as severe heart failure in children. Differential diagnosis with genetic cardiomyopathy can be difficult. The objective of this study is to identify patterns of clinical presentation and to assess invasive and non-invasive measures to differentiate patients with acute myocarditis from patients with dilated genetic cardiomyopathy. We performed a retrospective descriptive study of all paediatric patients (0-16 years old) that presented with new-onset heart failure with left ventricle ejection fraction < 35% in whom we performed an endomyocardial biopsy (EMB) during the period from April 2007 to December 2020. The patients were classified into two groups: Group 1 included 18 patients with myocarditis. Group 2 included 9 patients with genetic cardiomyopathy. Findings favouring a diagnosis of myocarditis included a fulminant or acute presentation (77.8% vs 33.3%, p = 0.01), higher degree of cardiac enzyme elevation (p = 0.011), lower left ventricular dimension z-score (2.2 vs 5.4, p = 0.03) increase of ventricular wall thickness (88.8% vs 33.3%, p = 0.03) and oedema in the EMB. Seven (77.8%) patients with genetic cardiomyopathy had inflammation in the endomyocardial biopsy fulfilling the diagnostic criteria of inflammatory cardiomyopathy.Conclusion: Differentiating patients with a myocarditis from those with genetic cardiomyopathy can be challenging, even performing an EMB. Some patients with genetic cardiomyopathy fulfil the diagnostic criteria of inflammatory cardiomyopathy. Using invasive and non-invasive measures may be useful to develop a predictive model to differentiate myocarditis from genetic cardiomyopathy. What is Known: ⢠Acute myocarditis could present with cardiogenic shock in paediatric patients. ⢠Parvovirus B19 is the main cause of myocarditis in this population. What is New: ⢠Current diagnostic criteria for myocarditis have limited use in paediatric patients presenting with new-onset heart failure. ⢠Some patients with a genetic cardiomyopathy and a new-onset heart failure fulfill the diagnostic criteria of inflammatory cardiomyopathy.
Assuntos
Cardiomiopatia Dilatada , Miocardite , Adolescente , Biópsia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Miocardite/diagnóstico , Miocárdio , Estudos Retrospectivos , Volume SistólicoAssuntos
Antineoplásicos/farmacologia , Cinesinas/antagonistas & inibidores , Neuroblastoma/tratamento farmacológico , Administração Oral , Animais , Antineoplásicos/administração & dosagem , Linhagem Celular Tumoral , Modelos Animais de Doenças , Humanos , Camundongos , Neuroblastoma/patologia , Neuroblastoma/secundárioRESUMO
INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder. METHODS: This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases. RESULTS: All patients presented with tachypnea. Additionally, seven patients had breathing difficulties and hypoxemia. Abnormalities in chest-computerized tomography (CT) with a pattern of ground-glass opacity, septal thickening, and air trapping were observed in all individuals, with images suggesting abnormal alveolar growth (parenchymal bands and architectural distortion). All lung biopsies showed alveolar simplification associated with an increased number of interstitial cells, which appeared as accumulated cytoplasmic glycogen. In the follow-up, all patients were asymptomatic. The respiratory function test was normal in only two patients. Five children showed an obstructive pattern, and two children showed a restrictive pattern. Chest-CT, performed after an average of 6.5 years since the initial investigation, revealed a partial improvement of the ground-glass opacity pattern; however, relevant alterations persisted. CONCLUSION: Although the patients with PIG in the absence of other associated pathologies had a good clinical outcome, significant radiographic alterations and sequelae in lung function were still observed after a median follow-up of 12 years, suggesting that PIG is a marker of some other persistent abnormalities in lung growth, which have effects beyond the symptomatic period.
Assuntos
Doença de Depósito de Glicogênio/diagnóstico , Doenças Pulmonares Intersticiais/diagnóstico , Alvéolos Pulmonares/patologia , Biópsia , Criança , Pré-Escolar , Citoplasma/metabolismo , Progressão da Doença , Dispneia , Feminino , Seguimentos , Glicogênio/metabolismo , Doença de Depósito de Glicogênio/complicações , Humanos , Hipóxia , Lactente , Recém-Nascido , Pulmão/diagnóstico por imagem , Doenças Pulmonares Intersticiais/complicações , Masculino , Taquipneia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
This case report describes a primary cardiac tumor, classified as venous malformation, diagnosed in an asymptomatic child. The tumor was located in the left atrium near the mitral valve without affecting the mitral valve's functioning. Complete resection of the lesion was performed because of the risk of systemic embolism. The lesion consisted of fibrous tissue with multiple venous vascular channels. The patient did not have similar lesions in other locations. Vascular primary cardiac tumors are extremely rare. Hemangiomas and lymphangiomas have been described previously, but to our knowledge, this is the first primary cardiac tumor identified as a venous malformation.
Assuntos
Átrios do Coração , Neoplasias Cardíacas , Neoplasias de Tecido Vascular , Adolescente , Feminino , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/cirurgia , Humanos , Neoplasias de Tecido Vascular/diagnóstico , Neoplasias de Tecido Vascular/cirurgiaAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Dermatoses do Couro Cabeludo/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Biópsia por Agulha , Diagnóstico Diferencial , Progressão da Doença , Humanos , Imuno-Histoquímica , Lactente , Masculino , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Estadiamento de Neoplasias , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Prognóstico , Medição de Risco , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/terapia , Neoplasias Cutâneas/diagnósticoRESUMO
Acanthamoeba infections are rare and mostly occur in immunocompromised patients. Most of the reported cases after stem cell transplantation have been diagnosed postmortem. We present the case of a 3-year-old boy with chronic graft versus host disease post hematopoietic transplantation, who was successfully treated for Acanthamoeba.