MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
OUTBREAK SITUATION: A stringent screening process at all airports in Malaysia was enforced after the first case outside China was reported in Thailand. Up to April 14, 2020, Malaysia had reported two waves of COVID-19 cases, with the first wave ending successfully within less than 2 months. In early March 2020, the second wave occurred, with worrying situations.
ACTIONS TAKEN: The Government of Malaysia enforced a Movement Control Order starting on March 18, 2020 to break the chain of COVID-19. The media actively spread the hashtag #stayhome. Non-governmental organizations, as well as prison inmates, started to produce personal protective equipment for frontliners. Various organizations hosted fundraising events to provide essentials mainly to hospitals. A provisional hospital was set up and collaborations with healthcare service providers were granted, while additional laboratories were assigned to enhance the capabilities of the Ministry of Health.
ECONOMIC DOWNTURN: An initial financial stimulus amounting to RM 20.0 billion was released in February 2020, before the highlighted PRIHATIN Package, amounting to RM 250 billion, was announced. The PRIHATIN Package has provided governmental support to society, covering people of various backgrounds from students and families to business owners.
Case presentation: A 26-year-old lady presented with anterior neck swelling with symptoms of superior vena cava syndrome for 6 months. Imaging study revealed a mediastinal mass which was preceded with core biopsy which was consistent with high-grade small cell NETs. Despite second-line adjuvant chemotherapy and radiotherapy, her disease became advanced which was confirmed via restaging scan. There were bilateral breast lesions discovered during the scan which was deemed to be metastatic NETs histologically. Despite prompt initiation of treatment, she succumbed 1 year after the radiotherapy due to disease progression.
Conclusion: High suspicion of an index is needed for diagnosis when patients with known primary NETs present with suspicious breast lesions. Triple assessment is mandatory, however histopathology assessment and immunohistochemistry staining are the mainstay of diagnosis.