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This article, part of a the series on safety in dermatologic procedures, covers the diagnosis, prevention, management, and treatment of 3 situations or conditions. The first condition we address is anaphylaxis, an uncommon but severe and potentially fatal reaction that must be recognized quickly so that urgent management coordinated with an anesthesiologist can commence. The second is fainting due to a vasovagal reaction, which is the most common complication in dermatologic surgery. This event, which occurs in 1 out of every 160 procedures, usually follows a benign course and resolves on its own. However, in patients susceptible to vasovagal reactions, syncope may lead to asystole and cardiac arrest. The third is acute hyperventilation syndrome, which is an anomalous anxiety-related increase in breathing rate beyond metabolic requirements. Brief practical recommendations for managing all 3 events are included.
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INTRODUCTION: Detection of mutations in the myeloid differentiation primary response gene 88 (MYD88) has clinical implications on diagnosis and therapy, especially in patients with Waldenström's macroglobulinemia (WM) and IgM monoclonal gammopathy of unknown significance (IgM-MGUS). We describe a method that provides greatly increased sensitivity for detecting minority mutations in MYD88. METHODS: We used a locked nucleic acid oligonucleotide to block amplification of wild-type DNA during polymerase chain reaction (PCR). Sanger sequencing of amplified DNA was used for detecting mutations in MYD88 gene. This approach was used to test samples from patients with WM and IgM-MGUS. RESULTS: When compared to traditional PCR followed by Sanger sequencing, our methodology was significantly more sensitive (one mutant allele in a background of 200 wild-type alleles). Using sequencing allowed us to visualize the PCR product, giving advantages over other methodologies such as allele-specific PCR. Based on analyzing 36 randomly selected, MYD88 mutated, clinically tested samples, we demonstrate that traditional PCR failed to detect MYD88 mutations in 64% of the samples that were clearly positive by wild-type blocking PCR. CONCLUSION: The new methodology is essential for attaining accurate results in clinical testing.
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Gamopatia Monoclonal de Significância Indeterminada/diagnóstico , Gamopatia Monoclonal de Significância Indeterminada/genética , Mutação , Fator 88 de Diferenciação Mieloide/genética , Oligonucleotídeos , Macroglobulinemia de Waldenstrom/diagnóstico , Macroglobulinemia de Waldenstrom/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Análise de Sequência de DNAAssuntos
Antineoplásicos/administração & dosagem , Doenças do Pé/tratamento farmacológico , Perna (Membro) , Sarcoma de Kaposi/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Timolol/administração & dosagem , Administração Cutânea , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Resultado do TratamentoRESUMO
INTRODUCTION: Human parainfluenza virus type 3 (HPIV-3) causes significant morbimortality in immunocompromised patients. Outbreaks of severe pneumonitis have been previously described in this setting. MATERIALS AND METHODS: Retrospective observational study in children diagnosed with acute leukemia and a documented HPIV-3 infection in the context of a nosocomial outbreak occurred in a single center. RESULT: During summer 2012, an HPIV-3 infection was detected in six hospitalized children with acute leukemia. All the patients had respiratory symptoms and one of them suffered from parotitis. CONCLUSION: Early diagnoses using multiplex real-time polymerase chain reaction (PCR) let us control this outbreak. A phylogenetic analysis confirmed person-to-person transmission of a single HPIV-3 variant.
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Infecção Hospitalar/diagnóstico , Surtos de Doenças , Leucemia/virologia , Vírus da Parainfluenza 3 Humana/isolamento & purificação , Reação em Cadeia da Polimerase em Tempo Real/métodos , Infecções por Respirovirus/diagnóstico , Doença Aguda , Adolescente , Criança , Pré-Escolar , Infecção Hospitalar/complicações , Infecção Hospitalar/virologia , Feminino , Humanos , Lactente , Masculino , Vírus da Parainfluenza 3 Humana/classificação , Vírus da Parainfluenza 3 Humana/genética , Filogenia , Infecções por Respirovirus/epidemiologia , Infecções por Respirovirus/virologia , Estudos Retrospectivos , Espanha/epidemiologiaRESUMO
Patients with cutaneous metastatic melanoma of unknown primary origin (stage IV M1a disease according to the American Joint Committee on Cancer melanoma staging system) have an estimated 5-year survival rate of between 5% and 17.9% and a median survival of 6 months. However, certain patients with stage IV M1a disease have much higher survival rates. The existence of this subpopulation has given rise to the term primary dermal melanoma to describe such cases. We report a case of melanoma with characteristics consistent with primary dermal melanoma and review the relevant literature. A diagnosis of primary dermal melanoma requires careful clinical and pathologic correlation and should be considered in all patients with a solitary melanoma confined to the dermis and subcutaneous tissue when there is no evidence of a primary tumor or disease at other sites following appropriate staging studies. We believe that familiarity with this subtype of melanoma is essential in order to provide patients with optimal care and better prognostic information.
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Melanoma , Neoplasias Cutâneas , Idoso , Feminino , Humanos , Melanoma/patologia , Neoplasias Cutâneas/patologiaRESUMO
Recent advances in treatment for childhood acute lymphoblastic leukaemia (ALL) have significantly increased outcome. High-dose methotrexate (MTX) is the most commonly used regimen during the consolidation period, but the optimal dose remains to be defined. We investigated the usefulness of the MTHFR genotype to increase the MTX dosage in the consolidation phase in 141 childhood ALL patients enrolled in the ALL/SHOP-2005 protocol. We also investigated the pharmacogenetic role of polymorphisms in genes involved in MTX metabolism on therapy-related toxicity and survival. Patients with a favourable MTHFR genotype (normal enzymatic activity) treated with MTX doses of 5 g m⻲ had a significantly lower risk of suffering an event than patients with an unfavourable MTHFR genotype (reduced enzymatic activity) that were treated with the classical MTX dose of 3 g m⻲ (P=0.012). Our results indicate that analysis of the MTHFR genotype is a useful tool to optimise MTX therapy in childhood patients with ALL.
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Metotrexato , Metilenotetra-Hidrofolato Redutase (NADPH2) , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adolescente , Antimetabólitos Antineoplásicos/administração & dosagem , Antimetabólitos Antineoplásicos/efeitos adversos , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Genótipo , Humanos , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Metotrexato/administração & dosagem , Metotrexato/efeitos adversos , Metotrexato/farmacocinética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Farmacogenética , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologiaRESUMO
We present 2 new cases of cutaneous angiomyolipomas with very similar characteristics, located in the postauricular region of 2 women aged 58 and 52 years. The lesions measured 1.5 cm and 1 cm across and had been present for 5 and 2 years, respectively. Both presented a previously unreported clinical sign: change in size according to the ambient temperature. They had well defined borders and a predominance of smooth muscle and vessels, particularly arteries. In contrast to renal angiomyolipomas, which are often associated with tuberous sclerosis, these angiomyolipomas were negative for melanocytic immunohistochemical markers (human melanoma black-45 antigen and melanoma antigen recognized by T cells 1). The clinical characteristics of the 32 cases published until present are reviewed. The relationship of these tumors with angioleiomyomas and renal angiomyolipomas is discussed.
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Angiomiolipoma/patologia , Neoplasias da Orelha/patologia , Orelha Externa/patologia , Neoplasias Cutâneas/patologia , Angiomiolipoma/química , Angiomiolipoma/diagnóstico , Angiomiolipoma/cirurgia , Antígenos CD/análise , Antígenos de Neoplasias/análise , Biomarcadores Tumorais/análise , Proteínas do Citoesqueleto/análise , Neoplasias da Orelha/química , Neoplasias da Orelha/diagnóstico , Neoplasias da Orelha/cirurgia , Orelha Externa/cirurgia , Feminino , Humanos , Antígenos Específicos de Melanoma , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Prognóstico , Neoplasias Cutâneas/química , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgiaRESUMO
Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Golé syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). We report a patient that consulted for skeletal symptoms, as the acropachia and cutaneous manifestations (thickening of the skin of the face, scalp, hands and feet) went unnoticed due to their slow and progressive development. We review the characteristic features of this syndrome. We highlight the importance of ruling out secondary forms of hypertrophic osteoarthropathy and of a close follow-up of these patients because of complications that might develop on the long-term.
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Osteoartropatia Hipertrófica Primária/diagnóstico , Biópsia , Consanguinidade , Derme/patologia , Diagnóstico Diferencial , Progressão da Doença , Epiderme/patologia , Face/patologia , Dedos/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteíte Deformante/etiologia , Osteoartropatia Hipertrófica Primária/genética , Osteoartropatia Hipertrófica Primária/patologia , Osteoartropatia Hipertrófica Secundária/diagnóstico , Envelhecimento da Pele/genética , Envelhecimento da Pele/patologiaRESUMO
Endometriosis consists of extrauterine endometrial growths. Although it is usually located in the pelvis it can also be found in other sites. Endometriosis of the skin is rare and the most frequent form develops over gynecologic or obstetric scars, although it may also appear spontaneously in the umbilical area. We present a 39-years-old woman with an umbilical nodule as a clinically characteristic form of spontaneous cutaneous endometriosis. The histopathological examination confirmed the clinical diagnosis.
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Endometriose/patologia , Dermatopatias/patologia , Umbigo/patologia , Adulto , Diagnóstico Diferencial , Endometriose/diagnóstico , Feminino , Humanos , Dermatopatias/diagnóstico , Neoplasias Cutâneas/diagnósticoAssuntos
Carcinoma Basocelular/patologia , Neoplasias Vulvares/patologia , Idoso , Feminino , HumanosRESUMO
Fanconi anemia (FA) is an inherited DNA repair disorder characterized by genetic instability of cells lacking a functional FA/BRCA pathway. Previous studies have shown that in vitro stimulation of bone marrow cells (BMCs) from FA mice promotes apoptosis, reduces the reconstitution ability of the stem cells, and induces myelodysplasia and myeloid leukemia upon reinfusion of the cells. This suggests the convenience of adapting standard protocols of gene therapy to FA. Here we show that the reserve of BM progenitors in FA patients is generally below 20% of normal values. Because this reduced reserve could activate the cycling of BM progenitors, we developed a simplified protocol to transduce BMCs from FA patients with gammaretroviral vectors. We demonstrate that a short in vitro manipulation (12-24 hr) of fresh mononuclear BMCs is sufficient to transduce 42% of hematopoietic progenitors from FA-A patients, in the absence of in vitro prestimulation. When FANCA-expressing vectors were used, this simple procedure reversed the phenotype of the BM progenitors from these patients. We propose that our approach will be more efficient and safer compared with standard gene therapy protocols for FA.
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Anemia de Fanconi/terapia , Terapia Genética/métodos , Células-Tronco Hematopoéticas/fisiologia , Transdução Genética/métodos , Células da Medula Óssea/fisiologia , Células Cultivadas , Anemia de Fanconi/sangue , Gammaretrovirus/genética , Terapia Genética/efeitos adversos , Humanos , Valores de ReferênciaRESUMO
Flow cytometry methods currently used for measuring neutrophil activation involve sample manipulation, which may result in cellular depletion and artifactual activation. To design a new methodology for measurement of neutrophil activation with minimal sample manipulation. Oxidative burst and CD 11b neutrophil expression were simultaneously assessed by a new no-lyse no-wash technique and a standard lyse-method in 10 pediatric patients with recurrent infections and two patients with chronic granulomatous disease (CGD). The new technique was based on nucleic acid staining to discriminate erythrocytes and debris without requiring physical separation. Both methods served equally to confirm or eliminate the diagnosis of CGD and leukocyte adhesion deficiency type 1. The values of baseline CD11b and oxidative burst obtained using the lysis method were significantly higher than those obtained by the no-lyse no-wash method. After activation, the lysis method resulted in higher neutrophil depletion (41%vs. 19%, P = 0.03). When compared with standard methods, neutrophil activation assessment by a no-lyse no-wash method resulted in lower neutrophil depletion and differences in oxidative burst and CD11b neutrophil values.
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Citometria de Fluxo/métodos , Ativação de Neutrófilo , Neutrófilos/fisiologia , Antígeno CD11b/análise , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Testes Hematológicos , Humanos , Lactente , Masculino , Neutrófilos/química , Neutrófilos/efeitos dos fármacos , Explosão Respiratória/efeitos dos fármacos , Sensibilidade e Especificidade , Acetato de Tetradecanoilforbol/farmacologiaAssuntos
Fator Estimulador de Colônias de Granulócitos/administração & dosagem , Mobilização de Células-Tronco Hematopoéticas , Adolescente , Contagem de Células Sanguíneas , Criança , Pré-Escolar , Avaliação de Medicamentos , Feminino , Filgrastim , Humanos , Leucaférese , Masculino , Neoplasias/sangue , Neoplasias/terapia , Proteínas Recombinantes , Segurança , Resultado do TratamentoRESUMO
INTRODUCTION: Haemophagocyte lymphohistiocytosis (HLH) is a hematological disorder, autosomal recessive and in which there is benign proliferation of histiocytes with intense phagocytic activity of hematopoietic cells. The clinical features include fever, pancytopenia, coagulation disorders, liver dysfunction, the presence of histiocytes and haemophagocytes in the bone marrow, lymph nodes, spleen and liver. The nervous system is always involved and sooner or later patients develop a nervous system disorder with variable symptoms which may include irritability, disorders of consciousness, convulsions, ataxia, nystagmus or signs of intracranial hypertension. CLINICAL CASE: Onset of the disease showing purely neurological features is rare. We therefore describe the case of an 8 month old baby with HLH with a purely neurological condition involving irritability, horizontal rapid eye movements and vertical saccadic movements of both eyes and focal convulsive seizures. Initial complementary examinations were normal, except for study of the CSF with a lowered protein level and cells (monocytes). Finding hepatosplenomegaly and pallor, together with the laboratory investigations, made it advisable to do a bone marrow punch biopsy to detect haemophagocytes which would be diagnostic of HLH. In spite of chemotherapy there was rapid neurological deterioration, with alterations of the white matter and hydrocephaly which required insertion of a ventriculo-peritoneal shunt. The patient died when he was 10 months old. CONCLUSIONS: The cases of HLH in which cerebromeningeal disorders alone precede systemic symptoms are extremely rare. Hence the interest in reporting this case, so that it may be borne in mind in other cases of acute neurological onset. In this case initially there was encephalitis alone, but this was rapidly followed by systemic complications.