Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related genes including the reverse transcriptase (TERT) and the RNA component (TERC) of the telomerase complex. Variants in TERC and TERT can impede telomere elongation causing stem cells to enter premature replicative senescence and/or apoptosis as telomeres become critically short.

Pediatric cancer deaths: curative or palliative?

Aims: The aims of this study were to review the deaths of Malaysian pediatric oncology patients in order to determine the major causes and the proportion of patients who received palliative care.

Subjects And Methods: This was a retrospective review from 2001-2007 of deaths at the Pediatric Institute, General Hospital Kuala Lumpur. Clinical data such as age, gender, disease, cause, and place of death were collected.

Audit of pediatric hematology-oncology outpatients in Kuala Lumpur.

The aims of this study were to determine the types of cancers and hematological disorders in patients attending a pediatric hematology-oncology clinic. This was a prospective study at the Pediatric Institute, General Hospital Kuala Lumpur, Malaysia from June 2005-November 2006. During the 18-month study, 803 patients attended the clinic, 730 had oncological problems and 73 had hematological problems.

Late presentation of retinoblastoma in Malaysia.

Aims: The aims of this study were to review the presenting features, treatment and outcome for Malaysian children with retinoblastoma currently.

Subjects And Methods: This was a prospective study, conducted at the General Hospital Kuala Lumpur from August 2001 until October 2007. Clinical data were collected at presentation and follow-up.

Heterogeneous t(4;11) fusion transcripts in two infants with acute lymphoblastic leukemia.

An RT-PCR assay detected the t(4;11) translocation in two infants with acute lymphoblastic leukemia (ALL). Case P76 was a 10-month-old, female infant, who presented with a WBC of 137.4 x 10(9)/l and a pre-pre-B ALL immunophenotype.

TEL-AML1 frequency in multi-ethnic Malaysian pediatric acute lymphoblastic leukemia.

Eighty-eight multi-ethnic Malaysian pediatric acute lymphoblastic leukemia (ALL) patients were screened for the TEL-AML1 rearrangement by reverse transcription-polymerase chain reaction (RT-PCR). Fluorescence in situ hybridization (FISH) was used as an independent screen for 30 cases and to confirm RT-PCR positive cases. Seventeen patients, or 19%, were found to be t(12;21) positive.