Clinical spectrum of children receiving palliative care in Malaysian Hospitals.

INTRODUCTION: Awareness for paediatric palliative care has resulted in the impetus for paediatrician-led palliative care services across Malaysia. However, there is paucity of local data on patients receiving hospital-based paediatric palliative care. We aim to review the clinical spectrum of patients referred to these services. METHODS: An observational study of children aged between 0-18 years receiving palliative care at 13 hospitals between 1st January and 31st December 2014 was carried out. RESULTS: There were 315 patients analysed, 90 (28.6%) and 46 (14.6%) were neonates and adolescents respectively. The main ICD-10 diagnostic categories for all patients were identified to be 'Congenital malformations, deformations and chromosomal abnormalities' 117 (37.1%), 'Diseases of nervous system' 76 (24.1%) and 'Neoplasms' 60 (19.0%). At referral 156 (50%) patients had holistic needs assessments. Patients with 'Diseases of nervous system' were assessed to have significantly more physical needs than the other two diagnostic categories. Majority of patients who knew of their diagnosis and prognosis were those with malignancy. Over a fifth of referrals were at their terminal admission. Of 144 who died, 111 (77.1%) had advanced care plans. There was bereavement follow-up in 98 (68.1%) patients. CONCLUSION: Patients referred for palliative care have varied diagnoses and needs. To ensure all paediatricians are competent to deliver quality care to all children, further education and training initiatives is imperative.

Unrelated cord blood transplantation in children--a 10-year experience from UMMC.

Children who would benefit from a haematopoietic stem cell transplantation often lacked a compatible sibling donor. Unrelated cord blood transplantation was offered as an alternative donor source for patients with a variety of malignant and non-malignant diseases who had no further treatment options. Cord blood units were sourced from various international cord blood registries. The median nucleated and CD34+ cell doses were 8.7 x 10(7)/kg and 2.6 x 10(5)/kg respectively. In spite of adequate cell doses, a high rate of non-engraftment of 32% was observed. Acute graft-versus-host disease (GVHD) occurred in 14 out of the 15 patients who engrafted with 53% being grade III to IV GVHD. The five year disease free survival was 40.7% with infection and GVHD being the commonest causes of death. The five year disease free survival was 20.5% and 60.7% for malignant and non-malignant diseases respectively.

A rare X-linked inherited mucocutaneous syndrome in two siblings.

We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mother and one of his four sisters are heterozygous for the same mutation.

Evaluation of two short tandem repeat multiplex systems for post-haematopoietic stem cell transplantation chimerism analysis.

INTRODUCTION: The follow-up of chimerism status after allogeneic haematopoietic stem cell transplantation (HSCT) is essential to predict successful engraftment to assess the development of graft-versus-host disease, graft rejection and disease relapse. Analysis of short tandem repeats (STR) via polymerase chain reaction is frequently used for chimerism determination. However, most commercially-available kits have been designed for forensic purposes and may not be optimal for chimerism analysis. The present study aims to identify suitable STR markers for patient-donor pairs of predominantly Malay and Chinese ethnicity using two commercially-available forensic kits. METHODS: We analysed six STR loci, namely, CSF1PO, TPOX, TH01 (using the CTT multiplex system) and F13A01, FESFPS and vWA (using the FFv multiplex system) in 33 human leukocyte antigen-matched Malaysian patient-donor pairs to determine the suitability of these two multiplex systems for chimerism analysis in our local population. RESULTS: Informativity (different alleles in donor and recipient) of each individual locus was TH01 73 percent, vWA 73 percent, F13A01 52 percent, CSF1PO 61 percent, FESFPS 39 percent and TPOX 45 percent. When combined, the six STR loci were able to give chimerism results in 31 out of 33 (94 percent) cases. CONCLUSION: We found that TH01 and vWA are informative STR targets for post-HSCT chimerism analysis in predominantly Malay and Chinese patient-donor pairs. The commercially-available kits will also permit laboratories without extensive molecular biology capabilities to perform DNA typing in HSCT recipients.

Spontaneous splenic rupture secondary to phaeyohyphomycosis and splenic abscesses.

Phaeohyphomycosis consists of a group of mycotic infections characterized by the presence of dematiaceous (dark walled) septate hyphae. Splenic abscess and spontaneous rupture is an infrequent complication in children with haematological malignancies and can be life threatening. To the best of our knowledge this is the first report of a case of splenic rupture following the development of multiple abscesses secondary to infestation by this rare fungal species.

Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome).

We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently developed acute megakaryoblastic leukemia at the age of 17 years and succumbed during induction chemotherapy. The role of G-CSF in the pathogenesis of her malignant transformation to AML is complicated as this disorder has a propensity for myelodysplasia or AML as part of its natural history.

Paediatric admissions at a tertiary hospital in Kuala Lumpur--a case for a short-stay ward.

The profile of admissions staying less than 24 hours admitted to the paediatric wards of University Malaya Medical Center, Kuala Lumpur, over a period of six weeks was reviewed to ascertain the need of a short-stay ward. Ninety-three (22%) of the 428 admissions admitted during the study period were discharged within 24 hours, 56 (60%) were discharged within 12 hours. Major categories of admissions were: elective investigative procedures (43%), and emergency admissions (44%). Reasons for emergency admissions: infections 42%, minor trauma/cerebral concussion 25% and febrile/afebrile seizures 11%. Only 20% required percutaneous oximetry monitoring and 2% required observations more frequently than 2 hourly. There may be a case for a short stay ward in a big paediatric unit in Malaysia.

Factor V inhibitor in neonatal intracranial hemorrhage secondary to severe congenital factor V deficiency.

We report a newborn infant girl, born to consanguineous parents, with recurrent intracranial hemorrhage secondary to congenital factor V deficiency with factor V inhibitor. Repeated transfusions of fresh-frozen plasma (FFP) and platelet concentrates, administrations of immunosuppressive therapy (prednisolone and cyclophosphamide), and intravenous immunoglobulin failed to normalize the coagulation profiles. Exchange transfusion followed-up by administrations of activated prothrombin complex and transfusions of FFP and platelet concentrates caused a temporary normalization of coagulation profile, enabling an insertion of ventriculoperitoneal (VP) shunt for progressive hydrocephalus. The treatment was complicated by thrombosis of left brachial artery and ischemia of left middle finger. The child finally died from another episode of intracranial hemorrhage 10 days after insertion of the VP shunt.