• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.122-129
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• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

• Applied Microscopy
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• v.51
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• pp.18.1-18.12
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• 2021

Hair, having distinct stages of growth, is a dynamic component of the integumentary system. Nonetheless, derangement in its structure and growth pattern often provides vital clues for the diagnosis of systemic diseases. Assessment of the hair structure by various microscopy techniques is, hence, a valuable tool for the diagnosis of several systemic and cutaneous disorders. Systemic illnesses like Comel-Netherton syndrome, Griscelli syndrome, Chediak Higashi syndrome, and Menkes disease display pathognomonic findings on hair microscopy which, consequently, provide crucial evidence for disease diagnosis. With minimal training, light microscopy of the hair can easily be performed even by clinicians and other health care providers which can, thus, serve as a useful tool for disease diagnosis at the patient's bedside. This is especially true for resource-constrained settings where access and availability of advanced investigations (like molecular diagnostics) is a major constraint. Despite its immense clinical utility and non-invasive nature, hair microscopy seems to be an underutilized diagnostic modality. Lack of awareness regarding the important findings on hair microscopy may be one of the crucial reasons for its underutilization. Herein, we, therefore, present a comprehensive overview of the available methods for hair microscopy and the pertinent findings that can be observed in various diseases.

• Korean Journal of Agricultural Science
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• v.32 no.1
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• pp.53-61
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• 2005

Many bovine genetic diseases are currently unidentified in Korea because of the relatively low monitoring systems in the livestock farms. The molecular detection system using PCR-RFLP of two genetic diseases, namely Band 3 (Erythrocyte Membrane Protein Band III) and CHS (Chediak-Higashi Syndrome), have been identified in Japan and used for screening large number of cattle whether each individual has the genetic disease or not. Using the 22 unrelated Korean cattle (Hanwoo) individuals, molecular detection system based on PCR-RFLP have been investigated, which can be distinguishable carriers for the genetic diseases. Even though we could not found the causative mutations for two genetic diseases, the PCR-RFLP techniques used in this study are very valuable for the screening the genetics diseases in Korean cattle, especially for the proven or candidate bulls.