RESUMO
The work describes a case of rare neonatal systemic juvenile xanthogranuloma with an initial damage of the scalp, limbs, back and abdomen, multiple damages of the parenchyma of both lungs, spleen and liver with the development of a severe form of congenital cholestatic hepatitis. The diagnosis was established on the basis of histopathological and immunohistochemical examination of the skin nodules. The child on the background of therapy under the Langerhans cell histiocytosis III program achieved a partial response, which was manifested by a reduction of granulomatous formations on the skin, elimination of liver failure, but retained hepatosplenomegaly, specific lesions of the lung parenchyma, liver, and left kidney. Against the background of cytostatic therapy, the patient developed secondary pancytopenia, perianal ulcerative-necrotic dermatitis with lesions on buttocks, stomatitis, protein-energy deficiency, acute liver failure. coagulopathy, disseminated intravascular coagulation syndrome, acute renal failure, respiratory failure of III degree, cardiovascular insufficiency of III degree, pulmonary edema, cerebral edema, cerebral coma of II-III degree, enterocolitis, intestinal paresis. Despite multicomponent intensive care, the child's condition progressively deteriorated, and the patient died. The aspects of differential diagnosis of neonatal systemic juvenile xanthogranuloma are discussed.
Assuntos
Pancitopenia , Xantogranuloma Juvenil , Recém-Nascido , Criança , Humanos , Xantogranuloma Juvenil/complicações , Xantogranuloma Juvenil/diagnóstico , Xantogranuloma Juvenil/patologia , Pele/patologia , Diagnóstico Diferencial , Pancitopenia/diagnóstico , Fígado/patologiaRESUMO
Turner syndrome (TS) is a chromosomal condition that affects development in females. The case of TS in the mother whose child was diagnosed with acute leukemia at the age of 1.5â¯years is presented. FANCI gene in child was detected among 94â¯genes associated- with hematologic malignancies. Acute lymphoblastic leukemia, common-B ÐÐ, L1, associated with t(12;21)(p13;q22), TEL/AML1 (ETV6/RUNX1) in a child was detected during a prophylactic examination. During the treatment of the baby, the mother had a second pregnancy, which ended in miscarriage at 8â¯weeks. Upon cytogenetic examination in the mother TS was revealed - mos45,Ð¥[23]/46, ХХ[7], and the father's karyotype was without abnormalities (46, ХУ). After chemotherapy, the child is in clinical-hematological remission. It could be suggested that chromosomal abnormalities in mother with TS may cause the chromosomal instability and hematological malignancy in offspring.
Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores , Biópsia , Células da Medula Óssea/patologia , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos X , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Feminino , Estudos de Associação Genética/métodos , Predisposição Genética para Doença , Humanos , Imunofenotipagem , Lactente , Masculino , Imagem Multimodal/métodos , Mutação , Proteínas de Fusão Oncogênica/genética , Linhagem , Fenótipo , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapiaRESUMO
The role of mitochondrial calcium-uniporter in calcium-homeostasis maintenance and correlations of calcium-uniporter with other calcium-transport systems of the rat exorbital lacrimal gland secretory cells were studied. The experiments were performed on intact and digitonin-permeabilized cells. The interdependence of calcium-uniporter and other calcium-transporting systems functioning was estimated on the basis of additivity of their inhibitors/agonists effects, which was accompanied with a decrease in the Ca2+ content in the gland cells. It was found that in conditions of simultaneously inhibition of sarco endoplasmic reticulum Ca2+-ATPase (SERCA) and mitochondrial calcium-uniporter Ca2+ passively released from different calcium stores, because the effects of these calcium-transport systems inhibitors (thapsigargin and ruthenium red, respectively) were additive. Similarly, the processes of inositol-1,4,5-trisphosphate receptors (IP3Rs) activation and calcium-uniporter inhibition were additive. In contrast, the effects of ryanodine and ruthenium red on the Ca2+ content in cells were significantly non-additive. In addition, ryanodine at concentrations 1-3 µM reduced respiration rate of studied cells in dose-dependent manner, and this effect was persisted at cells preincubation with ruthenium red or tapsigargin. Thus, besides the activation of ryanodine receptors (RyRs) in endoplasmic reticulum, ryanodine inhibits Ca2+ influx to the mitochondrial matrix, that was insensitive to ruthenium red.