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Epidermolysis bullosa given the spotlight during paediatric atlas book launch

Dr. Joslyn Ngu
one year ago

Epidermolysis bullosa (EB) is a rare skin disease receiving little to no attention; hence, the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) Malaysia’s aims to educate and put more attention on the disease.

EB and DEBRA Malaysia

Dystrophic Epidermolysis Bullosa Research Association (DEBRA) Malaysia is an organization that provides support to EB patients and their caregivers. Epidermolysis bullosa is an umbrella term for a mixed group of conditions with a wide range of severity. There are three types of EB—simplex, junctional and dystrophic. The classification is based on the level at which the split responsible for blistering occurs.

Dr. Leong Kin Fon, president of DEBRA Malaysia, said EB is a rare disease that carries with it a significant burden. He has travelled all over Malaysia to document the incidence and prevalence of the rare skin disorder, and has discovered approximately 70 local families affected by EB thus far.

Shattering the myths on EB, Leong explained the disorder affects not just the skin but may also affect the hair, nails and internal organs such as the respiratory and gastrointestinal tract. Additionally, the disease incurs substantial psychosocial burden on the entire family. Management of a patient with EB involves a multidisciplinary team, said Leong, and this is where DEBRA Malaysia comes into the picture. Through nationwide collaborations between dermatologists and representatives of EB families, the organization aims to provide information regarding EB management and psychosocial support.

The second in a series of paediatric diseases atlases

During the Paediatrics in Practice 2016 conference, a home-grown paediatric atlas on cutaneous fungal and atypical bacterial infection was launched. The atlas was given complimentary but conference participants could choose to donate to DEBRA Malaysia, with Kotra Pharma matching every ringgit donated. The launch successfully raised a total of RM11,998 for DEBRA Malaysia. The financial support received by the organization will go towards funding home visits by nurses to provide care for EB patients and momentary relief for the caregivers, said Leong. Leong is the editor of the atlas.

Consultant dermatologist Dr. Tang Jyh Jong, one of the authors of the atlas, hopes the atlas will be beneficial to primary care physicians. He advised primary care physicians to always have a high index of suspicion, even though atypical skin diseases are rare, there are still incidences particularly in less developed areas. Unfortunately, the diagnosis is easily missed by primary care physicians as the level of disease awareness is low and facilities for diagnostic investigations are often lacking.

The Malaysian Paediatric Association (MPA) aims to empower as many primary care physicians and paediatricians as possible through knowledge, said paediatrician and adolescent medicine specialist Dr. Thiyagar Nadarajaw, president of the MPA. Hence, they often organize educational meetings such as the Paediatric in Practice conference, which is an annual event organized by the MPA with support from Kotra Pharma.

All three consultants were speaking at the Paediatrics in Practice 2016 conference held in Selangor, recently.

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one year ago
Memantine hydrochloride may be effective in the treatment of core social and cognitive deficits among adults with high-functioning autism spectrum disorder, based on a prospective, 12-week, open-label trial.
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Dr. Joslyn Ngu, one year ago

Epidermolysis bullosa (EB) is a rare skin disease receiving little to no attention; hence, the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) Malaysia’s aims to educate and put more attention on the disease.

Kavitha G. Shekar, one year ago

Duke-National University of Singapore (Duke-NUS) and the National Neuroscience Institute (NNI) of Singapore scientists have identified a mechanism that potentially causes autism spectrum disorders (ASDs). MicroRNA (miR-128), a brain-specific gene that regulates expression in the human body, was found to cause abnormal brain development linked to ASDs.