Immune thrombocytopenia is the most common diagnosis of isolated thrombocytopenia. The dilemma encountered by paediatricians is missing diagnosis of acute leukaemia in children with isolated thrombocytopenia. We demonstrated childhood ITP could be diagnosed using a four point clinical criteria without missing a diagnosis of acute leukaemia. Hence, bone marrow examination is not necessary in children with typical features compatible with ITP prior to steroid therapy. This can encourage paediatricians to choose steroid therapy, which is cheaper and non-blood product, as first line platelet elevating therapy in children with significant haemorrhage.
Thrombocytopenic

BACKGROUND: Many studies focus on the causes of depression, but few assess the dietary intake. This study investigated the relationship between diet and prevalence of depression. METHODS: This study used the data from the Korea National Health and Nutrition Examination Survey 2010. A total of 734 persons aged 20-65 years old in whom the presence or absence of depression was confirmed by doctor were analyzed. We analyzed associations between prevalence of depression and diet based on carbohydrate, fiber, calcium, iron, sodium, potassium, vitamin A, thiamine, riboflavin, niacin and vitamin C intakes for male and female groups. RESULTS: There was no association between diet and prevalence of depression in the male group. For the female group, as fiber intake was increased, the prevalence of depression significantly decreased (odds ratio=0.923, 95% confidence interval=0.850-0.986), but there was no association between the other dietary intakes and prevalence of depression. CONCLUSIONS: The fiber intake and prevalence of depression are negatively correlated in women aged 20-65 years. A diet therapy including fiber may decrease the prevalence of depression.
Adult* ; Ascorbic Acid ; Calcium ; Depression* ; Diet Therapy ; Diet* ; Dietary Fiber ; Female ; Humans ; Iron ; Korea* ; Male ; Niacin ; Nutrition Surveys* ; Potassium ; Prevalence* ; Riboflavin ; Sodium ; Thiamine ; Vitamin A

INTRODUCTIONChildren with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.

METHODSWe herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.

RESULTSOf the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).

CONCLUSIONThe low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.

Cohort Studies ; Down Syndrome ; complications ; genetics ; Exons ; Female ; GATA1 Transcription Factor ; genetics ; Gene Deletion ; Genomics ; Humans ; Infant, Newborn ; Leukemia, Myeloid ; complications ; genetics ; Leukemoid Reaction ; complications ; genetics ; Malaysia ; Male ; Mutation ; Referral and Consultation ; Remission Induction

INTRODUCTION: Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia. METHODS: We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions. RESULTS: Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged < 10 years, the prevalence of both thyroid dysfunction and hypoparathyroidism was 9.1%. CONCLUSION Two-thirds of children with TDT experienced at least one endocrine dysfunction. Thyroid dysfunction and hypoparathyroidism may be missed if endocrine screening is only performed in children with TDT > 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.