• Pediatric Infection and Vaccine
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• 제31권1호
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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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• 제51권
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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.

• 농업과학연구
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• 제32권1호
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• pp.53-61
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• 2005

한국의 소 사육 농가에서 유전병을 monitoring 하는 체계가 현재 존재하지 않기 때문에 정확히 한우에서 어떤 유전병이 존재하는지 알 수가 없는 실정이다. 최근에 일본에서는 흑모화우에 존재하는 유전병을 제거하기 위해 많은 노력을 들이고 있다. 본 연구는 일본의 흑모화우에 존재하는 유전병인 Band 3와 CHS의 존재 유무를 혈연관계가 없는 한우 22개체를 이용하여 PCR-RFLP 방법으로 확인하였다. 비록 한우에서 Band 3와 CHS 유전병을 가진 개체는 나오지 않았으나 본 연구에서 확립된 방법을 한우 보증 종모우와 후보 종모우에서 확인하여 유전병을 가진 유전자가 다음 세대로 전달되는 것을 막을 필요성이 있다.