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Gerliandi, Egi Oktarian
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Anemia Fanconi : Review Article Syaka, Muthiiah Khodista; Panjaitan, Vania Christy M; Gerliandi, Egi Oktarian; Dewi, Meidiana Kartika
Medula Vol 14 No 2 (2024): Medula
Publisher : CV. Jasa Sukses Abadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53089/medula.v14i2.931

Abstract

Fanconi anemia (AF) is a rare, multisystem genetic disorder that affects various physiological aspects, especially the bone marrow, and increases the risk of cancer, such as acute myeloid leukemia (AML) and head and neck cancer. This disease is caused by mutations in 23 genes of the FA/BRCA DNA repair pathway. This article presents the results of a literature study on FA, with a focus on etiology, pathophysiology, molecular pathology, diagnosis, risk factors, clinical symptoms, and management. Through literature study methods, the author collected information from national and international journal sources between 2012 and 2021. The etiology of FA involves mutations in 23 FA genes, with variations in carrier frequency depending on ethnic group. The pathophysiology of FA is related to the inability of cells to repair damaged DNA interstrand crosslinks (ICLs), which can lead to bone marrow failure. Molecular pathology involves the function of the FA/BRCA repair pathway and its impact on the genome. Diagnosis of FA requires clinical evaluation, molecular analysis, and bone marrow examination. Risk factors involve genetic aspects and specific carrier frequencies in ethnic populations. Clinical symptoms of FA involve anemia, infection, and somatic manifestations. Management of FA depends on the severity, with hematopoietic stem cell transplantation (HSCT) being the primary choice. HSCT from matched, nonmatched, or haploidentical donors has provided increasingly better results. This study underscores the importance of early diagnosis of FA to improve prognosis. Although HSCT is the primary treatment option, careful consideration of risks and benefits must be taken. The results of this literature study provide in-depth insight into FA, supporting appropriate monitoring and management efforts for individuals with this condition.
LITERATUR REVIEW: TRIKIASIS Gerliandi, Egi Oktarian; Mustofa, Syazili; Lisiswanti, Rika; Sukohar, Asep
Medula Vol 14 No 3 (2024): Medula
Publisher : CV. Jasa Sukses Abadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53089/medula.v14i3.1008

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Trichiasis is a pathological disorder characterized by the abnormal growth of eyelashes towards the eyeball, resulting in irritation, pain, and potential harm to the eye. This research utilizes a method of sear Trichiasis is a pathological disorder characterized by the abnormal growth of eyelashes towards the eyeball, resulting in irritation, pain, and potential harm to the eye. The pathophysiology of trichiasis originates with alterations in the structure of the eyelashes and eyelids. Trichiasis is classified into six categories according to the source and location of abnormal eyelash development. The clinical presentation of trichiasis differs according on the extent of the condition. Trichiasis can be diagnosed by assessing the patient's medical history and doing a thorough physical examination. The history encompasses the patient's medical background, record of medication usage, past eye surgical procedures, and the patient's reported symptoms. The physical examination encompasses assessments of visual acuity, biomicroscopic inspection, evaluation of eyelid margins, and the administration of the Schirmer test. The treatment for trichiasis is determined by the extent of eyelash involvement, which includes factors such as the Soft Contact Lense Base Curve. Treatment options may include eyelash removal and surgical procedures, depending on the specific form of trichiasis that the patient is suffering. ching for articles on Google Scholar, PubMed, and NCBI. The search is limited to a specific year range determined by the researcher. The search is conducted using keywords such as trichiasis, etiology of trichiasis, pathophysiology of trichiasis, classification of trichiasis, clinical manifestations of trichiasis, diagnosis of trichiasis, and management of trichiasis. The study's findings revealed that the cause of trichiasis remained unknown, however it was hypothesized to be a result of infection. The pathophysiology of trichiasis originates with alterations in the structure of the eyelashes and eyelids. Trichiasis is classified into six categories according to the source and location of abnormal eyelash development. The clinical presentation of trichiasis differs according on the extent of the condition. Trichiasis can be diagnosed by assessing the patient's medical history and doing a thorough physical examination. The history encompasses the patient's medical background, record of medication usage, past eye surgical procedures, and the patient's reported symptoms. The physical examination encompasses assessments of visual acuity, biomicroscopic inspection, evaluation of eyelid margins, and the administration of the Schirmer test. The treatment for trichiasis is determined by the extent of eyelash involvement, which includes factors such as the Soft Contact Lense Base Curve. Treatment options may include eyelash removal and surgical procedures, depending on the specific form of trichiasis that the patient is suffering.