Blueberry Muffin Syndrome and Hyperleukocytosis in a Newborn: A Diagnostic Challenge.

Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/µL, is a rare phenomenon associated with severe complications in neonates. Congenital leukemia (CL), a rare diagnosis within the first month of life, is linked to high mortality. This case report presents a unique case of BMS with hyperleukocytosis as the initial presentation of CL. A full-term male newborn, born after an uncomplicated pregnancy, except for Kell isoimmunization, with an Apgar score of 9/10, and an irrelevant family history, showed widespread purple nodules consistent with BMS at birth. Laboratory workup revealed mild anemia, hyperleukocytosis with immature granulocytes on peripheral blood (PB) smear, positive direct antiglobulin test, and elevated alanine aminotransferase and lactate dehydrogenase, without hyperbilirubinemia. Empirical antibiotics and hyperhydration were started, and the neonate was transferred to a level 3 neonatal intensive care unit for further evaluation. A comprehensive etiological investigation was conducted, comprising infectious, immunological, metabolic, and neoplastic factors. A skin nodule biopsy revealed an infiltrate of blast cells, indicative of leukemia cutis, and a bone marrow aspirate confirmed acute myeloid leukemia (AML). The patient successfully completed the NOPHO-DBH-2012 chemotherapy protocol at five months and remains in complete remission at nine months. This case report contributes to the literature by highlighting the diagnostic approach and management strategies for CL presenting with BMS and hyperleukocytosis. This case aims to enhance awareness and understanding of BMS as an initial manifestation of CL. Additionally, the challenges of treating leukemia in neonates, coupled with the lack of specific guidelines for this age group, further underscore the complexities in managing such patients.

Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling.

Complete trisomy 5 is a rare and lethal abnormality. Mosaic trisomy 5 presents in various phenotypes, ranging from a clinically normal fetus to fetuses presenting uterine growth restriction, congenital heart anomalies, multiple dysmorphic features and psychomotor development abnormalities. Although rare, there are cases of a normal psychomotor development regardless of the associated low fetal growth frequently associated with mosaic trisomy 5. This is the first case report to date of a live fetus with complete trisomy 5 reported in chorionic villus sampling and mosaic trisomy 5 in amniotic fluid with a concomitant Ebstein anomaly. Diagnosis of mosaic trisomy 5 represents a challenge for the clinical team and patients, as the information regarding this syndrome is scarce and based mostly on case reports of liveborns, which may introduce a selection bias when counselling the parents.

Avaliação do conhecimento dos anestesiologistas sobre cuidados paliativos / La evaluación del conocimiento de los anestesiólogos acerca de los cuidados paliativos / Evaluation of knowledge among anesthesiologists about palliative care

Avaliar o conhecimento dos cuidados paliativos entre anestesiologistas por meio de questionário individual. A amostra teve 95 profissionais, dos quais 65 do sexo masculino e 30 do feminino. Sessenta e dois anestesiologistas informam que "qualidade de vida" é o termo que melhor expressa os cuidados paliativos e 53 consideram a combinação da assistência casa/hospital a mais conveniente para o atendimento do paciente que requer esses cuidados. Observou-se que 83,2% dos pesquisados (n=79) não receberam preparação para lidar com paciente que requer cuidados paliativos e 88,4% comentam com colegas quando um paciente morre (n=84). A maioria dos entrevistados (n=46) discorda da prática de eutanásia. Quanto à autopercepção do conhecimento sobre cuidados paliativos, numa escala de 0 (nenhum conhecimento) a 10 (conhecimento total), a maioria das respostas alcançou média 5 (n=28), o que mostra a necessidade da reflexão acerca do cuidar na área da anestesiologia...

Evaluar el conocimiento de los cuidados paliativos entre los anestesiólogos a través de un cuestionario individual. La muestra fue de 95, de los cuales 65 eran del sexo masculino y 30 del femenino. Sesenta y dos de los anestesiólogos informan "la calidad de vida" como el término que mejor expresa los cuidados paliativos y 53 consideran que la combinación de cuidado en el hogar / hospital es más conveniente para el cuidado del paciente que lo requiere. Se observó que el 83,2% de los investigadores (n = 79) no recibieron la preparación para lidiar con el paciente que requiere cuidados paliativos y el 88,4% comentan con sus compañeros cuando un paciente muere (n = 84). La mayoría de los encuestados (n = 46) no estaban de acuerdo con la práctica de la eutanasia. En cuanto a la autopercepción del conocimiento sobre los cuidados paliativos, en una escala de 0 (ningún conocimiento) a 10 (pleno conocimiento), la mayoría de las respuestas alcanzó el promedio de 5 (n = 28). Esto demuestra la necesidad de reflexión acerca del cuidar en el área de anestesiología...

To assess anesthesiologists' knowledge about palliative care through an individual questionnaire. The sample was 95, with 65 male and 30 female. Sixty-two of the anesthesiologists reported quality of life as the term that best expresses the palliative care, and 53 consider the combination of home care/ hospital the most convenient for the treatment of a patient who requires palliative care. It was observed that 83.2% of the interviewed (n = 79) have not been prepared for patients who require palliative care and that 88.4% mention to a colleague when a patient dies (n = 84). Most respondents (n = 46) disagreed with the practice of euthanasia. As for the perception of palliative care on a scale of 0 (no knowledge) to 10 (full knowledge), there was a majority of the average response of 5 (n = 28). It shows the need to reflect about care in the filed of anesthesiology...

Molecular and parasitological detection of Leishmania spp. in dogs caught in Palmas, TO, Brazil / Detecção molecular e parasitológica de Leishmania spp. em cães capturados em Palmas, TO, Brasil

This study evaluated occurrences of Leishmania infantum in dogs in the municipality of Palmas, Tocantins, comparing diagnostic data obtained using the polymerase chain reaction (PCR) and parasitological diagnosis. Blood samples and lymph node aspirates were collected from 63 dogs of males and females and various ages and races, with or without owners, between August 2009 and June 2010. Slides containing smears of lymph node aspirates were stained with Giemsa stained. In PCR, the 145 bp target sequence of the LT1 fragment, located in the Leishmania donovani kDNA minicircle was detected using the RV1 and RV2 oligonucleotide primers. The chi-square test revealed that there was a significant relationship between the symptoms and dogs that were positive for visceral leishmaniasis (VL). The parasitological investigation showed concordance of 66.7% with PCR on blood and 84.1% with PCR on lymph node aspirate. In addition to these tests, evaluations of the diagnoses in parallel and in series were conducted, which showed concordances with the parasitological test of 76.2% and 74.6%, respectively. The results make it possible to suggest that PCR on lymph nodes should be used in evaluating large populations (surveys) and that the parasitological test should be used for initial clinical evaluations in veterinary consultation offices.

Avaliou-se a ocorrência de Leishmania infantum em cães do município de Palmas-TO, comparando dados diagnósticos obtidos pela Reação em Cadeia da Polimerase (PCR) e pelo diagnóstico parasitológico. Foram coletadas amostras de sangue e de aspirado de linfonodo de 63 cães machos e fêmeas, várias idades e raças, domiciliares ou não de agosto de 2009 a junho de 2010. As lâminas contendo esfregaço dos aspirados de linfonodos foram coradas pelo corante Giemsa. Na PCR, a sequência alvo de 145 pb do fragmento LT1, situado no minicírculo do kDNA do grupo Leishmania donovani, foi detectada através dos oligonucleotídeos iniciadores RV1 e RV2. O teste χ² (Qui-quadrado), demonstrou haver relação significativa entre a sintomatologia e a positividade dos cães para Leishmaniose Visceral (LV). O exame parasitológico mostrou uma concordância de 66,7% com a PCR em sangue e 84,1% com a PCR de aspirado de linfonodo. Além destas análises, houve a avaliação dos diagnósticos em paralelo e em série, onde as concordâncias com o exame parasitológico foram de 76,2% e 74,6%, respectivamente. Os resultados permitem sugerir a utilização da PCR de linfonodos na avaliação de grandes populações (inquéritos), e o exame parasitológico para a avaliação clínica inicial em consultórios veterinários.

Diagnosis of Leishmania (Leishmania) chagasi infection in dogs and the relationship with environmental and sanitary aspects in the municipality of Palmas, state of Tocantins, Brazil / Identificação de cães infectados por Leishmania (Leishmania) chagasi e sua relação com aspectos ambientais e sanitários no município de Palmas, estado do Tocantins, Brasil

INTRODUCTION: The aim of the present study was to identify the presence of Leishmania (Leishmania) chagasi infection in dogs in the City of Palmas, Tocantins, Brazil, using the PCR technique to list the hot spots of infected dogs in the city and associate their occurrence to significant environmental changes at capture sites. METHODS: DNA was extracted from blood of dogs, and the PCR were performed with primers RV1/RV2. After screening the population studied, the regions of the city that had the highest occurrence of canine infection were detected. These sites were visited, and ecological parameters denoting anthropogenic disturbance were evaluated. RESULTS: Some important features were listed in the regions visited, such as low urbanization, lack of public collection of sewage, limited garbage collection, vacant lots with tall vegetation, decaying organic matter, and, most importantly, the occurrence of stray dogs and poultry in homes. CONCLUSIONS: The methodology for screening the population was very efficient, especially in evaluating a large number of individuals in a short time, with a high degree of automation. The results indicate an association between the observed parameters and the occurrence of infection in dogs. The model presented in the city is ideal for studies of disease progression and expansion and for the evaluation of control measures adopted for canine VL.

INTRODUÇÃO: O estudo foi realizado com o objetivo de identificar, através da PCR, a presença da infecção por Leishmania (Leishmania) chagasi em cães no município de Palmas, no Estado do Tocantins, Brasil, de modo a elencar os hot spots de cães infectados no município e associar sua ocorrência a alterações ambientais marcantes nos locais de captura. MÉTODOS: O DNA foi extraído do sangue dos cães e as reações de PCR foram realizadas com os primers RV1/RV2. Após o screening da população estudada, foram detectadas as regiões do município que apresentavam as maiores ocorrências da infecção canina. Esses locais foram visitados, e parâmetros de distúrbio ecológico com origem antrópica foram avaliados. RESULTADOS: Algumas características importantes foram constantes entre as regiões visitadas, entre elas a baixa urbanização, inexistência de coleta pública de esgoto, coleta publica de lixo pouco abrangente, lotes vagos com vegetação alta, e matéria orgânica em decomposição, com destaque para criação de cães soltos, e aves nas residências. CONCLUSÕES: A metodologia adotada para screening da população se mostrou bastante eficiente, sobretudo na avaliação de um grande número de indivíduos em tempo reduzido, com alto grau de automatização. Os resultados apresentados indicam associação entre os parâmetros observados e a ocorrência da infecção em cães. O modelo apresentado no município é ideal para estudos do desenvolvimento da doença, bem como sua expansão, além da avaliação das medidas de controle adotadas para a leishmaniose visceral canina.

Congenital diaphragmatic hernia in a patient with tetrasomy 9p.

Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.