Implementing primary eye care in private practises in Malaysia: the challenges faced by optometrists.

OBJECTIVE: In Malaysia, optometrists' role in the private sector is limited compared to their counterparts elsewhere. Primary eye care (PEC) is still not widely offered in private practises despite its demand to reduce the public's eye morbidity. This study aims to explore the challenges perceived by the private sector optometrists in implementing PEC in Malaysia. MATERIALS AND METHODS: In-depth interview using semistructured open-ended questions were designed to explore the challenges of implementing PEC. Fifteen private optometrists across Malaysian were interviewed via purposive sampling until the data were saturated. The interviews were audio-recorded, transcribed and analysed. RESULTS: Four major themes emerged: working environment, support and recognition, self-sufficiency and customer influence. The first major theme identified a lack of time and equipment in the workplace as a barrier to PEC implementation. The second major theme acknowledges the lack of support and recognition for PEC practise from financial bodies, the government, Malaysian Optical Council (MOC) and other eye professionals. Meanwhile, some practising optometrists faced significant challenges due to their lack of self-sufficiency regarding skills, knowledge and confidence. The final major theme, customer influence, reflects the customer's role in shaping eye care delivery through their perception and acceptance of PEC. CONCLUSION: Each of the issues identified played a significant impact in impeding PEC implementation in Malaysia. This study is the first step toward developing tailored interventions to improve eye care delivery in Malaysia.

Detection of copy number variations in epilepsy using exome data.

Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole-exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants in known epilepsy-associated genes to further validate CNVs using 2 different CNV detection tools using WES data. We confirmed 18 pathogenic CNVs, and 2 deletions and 2 duplications at chr15q11.2 of clinically unknown significance. Of note, we were able to identify small CNVs less than 10 kb in size, which might be difficult to detect by conventional microarray. We revealed 2 cases with pathogenic CNVs that one of the 2 CNV detection tools failed to find, suggesting that using different CNV tools is recommended to increase diagnostic yield. Considering a relatively high discovery rate of CNVs (18 out of 168 families, 10.7%) and successful detection of CNV with <10 kb in size, CNV detection by WES may be able to surrogate, or at least complement, conventional microarray analysis.

Symptom Prevalence and Related Distress in Cancer Patients Undergoing Chemotherapy.

BACKGROUND: Much has been done to examine the psychological impact of cancer treatment, but it remains unclear to what extent anxiety and depression is related to symptom prevalence. The present study concerned the characteristics and frequency of distress as related to symptom prevalence in cancer patients undergoing chemotherapy in Malaysia. MATERIALS AND METHODS: Participants were 303 consecutive adult cancer patients undergoing chemotherapy in an academic medical center. The short form Memorial Symptom Assessment Scale (MSAS-SF), which covers three domains of symptoms (global distress, physical- and psychological symptoms) was used to cross-sectionally measure symptom frequency and associated distress via self-reporting. One-way ANOVA and t-tests were used to test mean differences among MSAS-SF subscale scores. RESULTS: Complete data were available for 303 patients. The mean number of symptoms was 14.5. The five most prevalent were fatigue, dry mouth, hair loss, drowsiness and lack of appetite. Overall, symptom burden and frequency were higher than in other published MSAS-SF studies. Higher symptom frequency was also found to be significantly related to greater distress in cancer patients undergoing chemotherapy. CONCLUSIONS: Patients undergoing chemotherapy suffer from multiple physical and psychological symptoms. Better symptom control or palliative care is needed. Greater frequency of reported symptoms may also indicate a subconscious bid by patients for care and reassurance - thus tailored intervention to manage distress should be offered.