Bullous pemphigoid (BP) has a recognized association with solid organ tumors, but is relatively rare in hematological malignancies. We report a 67-year-old male who developed BP after being diagnosed with myelodysplastic syndrome and refractory anemia with excess of blast (RAEB). Skin biopsy elucidated sub-epidermal bulla using direct immunofluorescence, revealing linear C3 and IgG deposits along the basement membrane. His BP was recalcitrant to the conventional treatment and only responded to a combination of high dose oral prednisolone and azathioprine. The relative refractory nature of his condition and concurrent RAEB supports a paraneoplastic nature.
Aged ; Anemia ; Anemia, Refractory ; Anemia, Refractory, with Excess of Blasts ; Azathioprine ; Basement Membrane ; Biopsy ; Blister ; Fluorescent Antibody Technique, Direct ; Hematologic Neoplasms ; Humans ; Immunoglobulin G ; Male ; Myelodysplastic Syndromes ; Paraneoplastic Syndromes ; Pemphigoid, Bullous ; Prednisolone ; Skin

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.
Brain ; Chelation Therapy ; Cognition ; Extremities ; Gait Apraxia ; Humans ; Iron ; Movement Disorders

INTRODUCTIONThe G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects.

MATERIALS AND METHODSEight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman® allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine.

RESULTSThe heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624).

CONCLUSIONA419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alanine ; genetics ; Case-Control Studies ; China ; ethnology ; Cohort Studies ; Cytosine ; Female ; Gene Frequency ; Genetic Variation ; genetics ; Genotype ; Heterozygote ; Humans ; India ; ethnology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Malaysia ; ethnology ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Risk Factors ; Singapore ; Thymine ; Valine ; genetics ; Young Adult

INTRODUCTIONThe prognosis of patients with chronic myeloid leukaemia (CML) has improved since the introduction of imatinib. However, patients who do not achieve complete cytogenetic response (CCyR) and major molecular response (MMR) have poorer prognosis. Recent clinical trials have demonstrated that early and deeper cytogenetic and molecular responses predict a better long-term outcome. This study aimed to analyse the relationship between early molecular response and clinical outcome in a real-life setting.

METHODSThis retrospective study included all patients with CML, in chronic or accelerated phase, who were treated with imatinib at University of Malaya Medical Centre, Malaysia.

RESULTSA total of 70 patients were analysed. The median follow-up duration was 74 months, and the cumulative percentages of patients with CCyR and MMR were 80.0% and 65.7%, respectively. Overall survival (OS) and event-free survival (EFS) at ten years were 94.3% and 92.9%, respectively. Patients who achieved CCyR and MMR had significantly better OS and EFS than those who did not. At six months, patients who had a BCR-ABL level ≤ 10% had significantly better OS and EFS than those who had a BCR-ABL level > 10%. The target milestone of CCyR at 12 months and MMR at 18 months showed no survival advantage in our patients.

CONCLUSIONOur data showed that imatinib is still useful as first-line therapy. However, vigilant monitoring of patients who have a BCR-ABL level > 10% at six months of treatment should be implemented so that prompt action can be taken to provide the best outcome for these patients.

Academic Medical Centers ; Adult ; Antineoplastic Agents ; therapeutic use ; Cytogenetics ; Disease-Free Survival ; Female ; Follow-Up Studies ; Fusion Proteins, bcr-abl ; metabolism ; Humans ; Imatinib Mesylate ; therapeutic use ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; drug therapy ; genetics ; Malaysia ; Male ; Middle Aged ; Predictive Value of Tests ; Prognosis ; Retrospective Studies ; Treatment Outcome ; Universities

Background: It is not uncommon that anxiety and depression occur in patients with cancers, and past researches have shown that the quality of life of patients is negatively affected. This study aims to determine the prevalence of anxiety and depression of patients with haematological cancers in Malaysia and to investigate the possible association of these psychological symptoms with their quality of life. Methods: This is a cross-sectional study where patients with haematological cancers attending two major hospitals were recruited. Anxiety and depression symptoms were assessed using the Hospital Anxiety and Depression scale (HADS). Quality of life (QoL) of these patients was measured using the European Organisation for Research and Treatment of Cancer quality of life questionnaire (EORTC QLQ C30). An overall summary QoL score in combination with financial difficulty score and global health score were used for analysis. Results: A total of 319 patients were recruited. Thirty-three percent of patients had anxiety symptoms, 23.5% had depression symptoms. In summary the overall score of QoL is significantly lower in patients with higher scores for depression and anxiety, (p<0.05). Patients who exhibit anxiety symptoms were more frequently female, still undergoing treatment whereas patients who had higher depression scores were older and had acute leukemias or myeloproliferative neoplasms. Patients who have depression are significantly associated with a higher financial difficulty score, p<0.05. Conclusion: The poor quality of life in patients who have anxiety and depression should raise awareness amongst the health professions treating them so that additional support can be provided.