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The Siriraj I G γ( A γδβ) 0 -thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I G γ( A γδβ) 0 -deletion (genotype β IVS1-1 / β Siriraj I deletion ). Both his father and elder sister are carriers of Siriraj I G γ( A γδβ) 0 -thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I G γ( A γδβ) 0 -thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I G γ( A γδβ) 0 -thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.

Introduction: Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads., Case Report: We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117., Discussion: Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.

Introduction: A smooth transition of healthcare for young people with chronic illnesses from paediatric to adult healthcare services is important to ensure optimal outcome. At the moment, there are no standard guidelines to assess a patient's readiness to transfer care., Methods: A cross-sectional study using a self-administered questionnaire, adapted from UNC (University of North Carolina) TRxANSITION self-assessment tool was conducted to evaluate patients' transition care readiness in paediatric haematology and paediatric diabetes clinic., Results: A total of 80 patients (37 thalassaemia and 43 diabetes) with the mean age of 21.2 (SD±4.3) years, were recruited during the 3-month study period. Majority of the patients have basic knowledge regarding their medications, and were able to comply with their follow-up. The mean total score obtained by the respondents on this questionnaire was 15.3 (SD±3.59). Self-management skills and knowledge on disease were the two poorly scored section; with mean score of 3.78 (SD±1.38) and 4.28 (SD±1.20) respectively. Overall, only 21 (26.2%) respondents obtained high score (score above 75th percentile). Seventy-five percent of the respondents admitted that they were not ready for transfer to an adult healthcare service yet at the time of the study., Conclusion: We suggest that patients with high score should be prepared for transition to adult facility whereas those with a low score need to be identified to ensure provision of continuous education.

A four-year-old Ibanese boy presented with subacute abdominal distension for two months duration. Ultrasound and computed tomography (CT) scan showed solid liver masses as well as bowel and intraperitoneal lesions. Initial diagnosis of intraperitoneal inflammatory process as in tuberculosis with non-liquefied liver abscess with differential diagnosis of neoplastic process was made. Liver biopsy and peritoneal fluid analysis revealed Burkitt's lymphoma (BL). We aim to highlight the diagnostic challenge of BL in this young age group emphasizing on the ultrasound and CT features of intraabdominal BL. We would also want to stress the importance of early diagnosis of BL as it is known to be the most aggressive tumour within 24 hours yet to have good survival if early diagnosis was made.

Extraperitoneal, perivesical pelvic effusions may be hemorrhagic or uriniferous, the latter resulting from extraperitoneal rupture of the bladder or disruption of the posterior urethra. The effusions may be recognized on anteroposterior radiographs of the pelvis by (a) displacement of the bladder (small effusion); (b) obliteration of the normal soft-tissue anatomy within the pelvis (moderate effusion); and (c) upward displacement of the pelvic ileal loops and extension of the effusion into the flank stripes (large effusion). Perivesical effusions most frequently accompany anterior pelvic arch injuries, i.e., double vertical and Malgaigne fractures and fractures involving, or separation of, the pubic symphysis.

Insertion of a hooked stylet into the region of a mammographic abnormality is a simple method of localization prior to biopsy. The hook on the stylet does not permit movement of the localization device away from the lesion during the interval between placement and surgical excision. A xeroradiograph of the biopsy specimen determines whether the suspected region was obtained surgically.

Effects of diphenylhydantoin (DPH) on amphibian atrial myocardium K were investigated using a method which permits both total tissue K and tension response to be monitored continuously. In normal (nondigitalized) preparations, DPH caused a decrease in average K efflux, a net gain of tissue K, and negativeinotropy at low perfusate K concentrations. However, the DPH-induced gain of tissue K was abolished at high perfusate K concentrations while marked negative inotropy was still observed. It is concluded that a gain of tissue K is not the cause of DPH-induced negative inotropy. When digitalis-induced inotropy was associated with tissue K loss, DPH reversed tissue K loss and positive inotropy and caused a decrease in average K efflux. In the presence of toxic effects of digitalis, DPH reversed the K loss and the contracture, but the loss of developed tension was not reversed by DPH. Transmembrane resting potentials and action potential duration were reduced by digitalis and were returned to or above control levels in the presence of DPH. The present findings are consistent with the hypothesis that the therapeutic effect of DPH in digitalis toxicity is brought about by an inhibition of K efflux. This would tend to minimize the loss of tissue K which results from sodium pump inhibition.