We present a mortality case showcasing t(9;11)-positive acute myeloid leukemia/juvenile myelomonocytic leukemia (AML/JMML) overlap to shed light on this lethal molecular subtype of AML. In this case, ...the flawed assumption that JMML was to blame impeded the prompt undertaking of appropriate treatment for AML in our 14-month-old patient. This article aims to scrutinize the catastrophic sequel of such an overlap in leukemia and refutes the contemporary diagnostic methods.
We report herein a child with transfusion‐dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested ...a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow features suggestive of congenital dyserythropoietic anemia (CDA). DNA studies, however, revealed the underlying condition to be due to a novel mutation in the PKLR gene responsible for pyruvate kinase deficiency (PKD). Molecular investigations by a targeted next‐generation sequencing (t‐NGS) using a custom panel of 71 genes involved in the red blood cell (RBC) disorders revealed that the patient was homozygous for a novel missense mutation c.898G>C, p.Ala300Pro, whereas both his parents were heterozygous for the same mutation.
Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency, although it impacts patient's health‐related quality of life. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. Reporting cases may be helpful to increase the awareness in PKD.
Deep jaundice in a child with sickle cell disease Beshlawi, Ismail; Mathew, Leni; Saad, Ashraf A ...
Journal of paediatrics and child health,
June 2017, 2017-06-00, 20170601, Letnik:
53, Številka:
6
Journal Article
Parvovirus is a known culprit of transient red cell aplasia (TRCA) in children with sickle cell disease (SCD). Few reports have previously described the association between the virus and acute ...splenic sequestration crisis (ASSC) in the same patient. Here, we are shedding light on such a potentially serious combination by reporting two cases of siblings with SCD complicated with concurrent ASSC and TRCA and presenting a review of the relevant literature.
Echocardiography has become an indispensable bedside diagnostic tool in the realm of pediatric intensive care units (PICU). It has proven to be an influential factor in the formula of clinical ...decision-making. This study aimed to delineate the impact of echocardiography on the management of critically ill pediatric patients in the PICU at Sultan Qaboos University Hospital, Oman.
This was a retrospective cohort study conducted in a five-bed PICU. Patients admitted to the PICU from January of 2011 to December of 2012 were reviewed. Those who have undergone bedside echocardiography during their ICU stay were recruited. Electronic patient record was used as data source.
Over a-24-month period, 424 patients were admitted in this PICU. One hundred and one clinically indicated transthoracic echocardiograms were performed. 81.8% of these presented new findings (n=82) that significantly impacted the clinical decision of patient management, namely, alteration in drug therapy and procedure, whereas no difference in the management was yielded in the remaining 17.8% of the studied cases.
Echocardiography had a significant impact on the management of PICU patients. Such salutary effect was consequently reflected on the outcome. Pediatric intensivists are encouraged to acquire such bedside skill.
A ecocardiografia se tornou uma ferramenta de diagnóstico relevante, indispensável no âmbito das unidades de terapia intensiva pediátrica (UTIP). Ela se tornou um fator influente na tomada de decisões clínicas. O objetivo deste estudo foi delinear o impacto da ecocardiografia sobre o manejo de pacientes pediátricos gravemente doentes na UTIP do Hospital Universitário Sultan Qaboos, em Omã.
Este é um estudo de coorte retrospectivo realizado em uma UTIP de cinco leitos. Foram analisados pacientes internados na UTIP entre janeiro de 2011 e dezembro de 2012. Foram recrutados os pacientes que passaram por ecocardiografia durante sua internação na UTI. O registro eletrônico dos pacientes foi utilizado como fonte de dados.
Em um período de 24 meses, 424 pacientes foram internados em nossa UTIP 101 pacientes foram encaminhados para ecocardiografias transtorácicas. 81,8% delas tiveram novos achados (n=82) que afetaram significativamente a decisão clínica, como a terapia medicamentosa e procedimentos, ao passo que não houve nenhuma diferença no manejo nos outros 17,8% dos casos estudados.
A ecocardiografia teve um impacto significativo sobre o manejo de pacientes da UTIP. Esse efeito refletiu-se nos resultados. Os intensivistas pediátricos devem ser incentivados a adquirir essa habilidade relevante.
Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride–bicarbonate) exchanger 1 may result in familial distal renal tubular acidosis (dRTA) in association ...with membrane defect hemolytic anemia. Seven children presenting with hyperchloremic normal anion gap metabolic acidosis, failure to thrive, and compensated hemolytic anemia were studied. Analysis of red cell AE1/Band 3 surface expression by Eosin 5′‐maleimide (E5M) was performed in patients and their family members using flow cytometry. Genetic studies showed that all patients carried a common SLC4A1 mutation, c.2573C>A; p.Ala858Asp in exon 19, found as homozygous (A858D/A858D) mutation in the patients and heterozygous (A858D/N) in the parents. Analysis by flowcytometry revealed a single uniform fluorescence peak, with the mean channel fluorescence (MCF) markedly reduced in cases with homozygous mutation, along with a left shift of fluorescence signal but was only mildly reduced in the heterozygous state. Red cell morphology showed striking acanthocytosis in the homozygous state patients and only a mild acanthocytosis in heterozygous state parents. In conclusion, this is the first description of a series of homozygous cases with the A858D mutation. The E5M flowcytometry test is specific for reduction in the Band 3 membrane protein and was useful in conjunction with a careful morphological examination of peripheral blood smears in our patient cohort.
Primary malignant liver tumours account for more than 1% of all paediatric malignancies, with the most common form being hepatoblastomas (HB). Such malignancies among Arab populations have rarely ...been addressed in the literature. Using data from Oman's sole national referral centre for childhood solid malignancies, this study aimed to present the nationwide Omani experience with HB over the past 21 years.
This retrospective study reviewed the medical records of all children with HB who were managed in the Royal Hospital, Muscat, Oman, between January 1991 and April 2012. Clinical, radiological and laboratory characteristics were examined as well as treatments and outcomes.
During the study period, 15 patients with HB were treated. Of these, 10 have survived to date. Nine of the survivors were no longer receiving treatment and one patient still had the disease but was in a stable condition. Of the remaining five patients, three did not survive and two were lost to follow-up. The survival rate among patients who completed therapy was 91%.
HB has an excellent prognosis in Oman. The main obstacle to improving outcomes among Omani patients is non-compliance with therapy.
PDF
