The global surge of Omicron has caused significant concern. Omicron has caused new wave of infections in nations with adequate vaccine coverage. Omicron has around 30 mutations that are similar to the previous variant of concerns, possibly decreasing vaccine effectiveness (VE). Hence, the emergence of Omicron is predicted to be a significant public health challenge and may alter the future of COVID-19 vaccinations. Furthermore, other issues may affect vaccine policy in the future such as the never-ending vaccine inequity, waning immunity of current COVID-19 vaccines, decreasing VE against new emerging strains, and new findings regarding hybrid immunity. This literature review aimed to explore the possible steps forward using the most updated knowledge on COVID-19 vaccines and Omicron.
Malformasi kongenital multipel (MKM) non-sindromik merupakan penyakit neonatal dengan mortalitas tinggi, menurunkan kualitas hidup anak dan mahalnya biaya perawatan. Untuk mendiagnosis MKM-non-sindromik diperlukan analisis kromosom secara akurat dengan biaya terjangkau yaitu metode G-banding, namun detection rate belum diketahui. Penelitian bertujuan untuk mengetahui proporsi MKM non-sindromik yang dapat didiagnosis dengan metode G-banding. Penelitian ini menggunakan desain potong lintang dengan subjek semua pasien yang datang ke laboratorium sitogenetik Departemen Biologi FKUI pada Juli 2014 sampai dengan Desember 2017. Pasien dilakukan pemeriksaan fisis kemudian dibandingkan dengan basis data Online Mendelian Inheritance in Man (OMIM) untuk menyeleksi pasien MKM sindromik dan non-sindromik. Sebanyak 34 dari 83 subjek (41%) dapat ditegakkan diagnosis klinis menggunakan database fenotip. Sebanyak 49 pasien memenuhi kriteria penelitian kemudian dilakukan analisis kromosom dengan metode G-banding. Terdapat 17 (34,7%) subyek yang menunjukkan aberasi kromosom. Tiga fenotip tersering pada subjek adalah hambatan pertumbuhan, mikrosefali, dan penyakit jantung bawaan. Disimpulkan metode G-banding sebagai pemeriksaan skrining awal pada MKM berperan penting dalam mendiagnosis penyebab genetik. Kata kunci: MKM non-sindromik, basis data fenotip, Indonesia, G-banding. Chromosome Aberration Profiles in Patients with Non-Syndromic Multiple Congenital Malformation Abstract Non-syndromic multiple congenital malformations (MCM) remains a significant problem in Indonesia Chromosome Aberration Profiles in Patients with Non-Syndromic Multiple Congenital Malformation as it causes high mortality and morbidity rate in neonates and infants as well as a significant financial burden for families in caring for patients with non-syndromic MCM. Genetics is the major cause of non-syndromic MCM, and more than 50% is caused by chromosomal abnormalities. Considering the condition in Indonesia, where most families have a low socioeconomic background and where there are limited molecular genetics laboratory facilities, this research aims to study the proportion of non-syndromic MCM that can be detected using G-banding and describe chromosome aberration profiles in non-syndromic MCM patients. The Online Mendelian Inheritance in Man (OMIM) was used to differentiate non-syndromic and syndromic MCM in 83 recruited MCM patients. Thirtyfour patients (41%) were diagnosed using a phenotype database based on clinical signs. The three most common phenotypes were growth failure, microcephaly, and congenital heart diseases. Forty-nine patients were classified with non-syndromic MCM after filtering with OMIM and underwent G-banding. Seventeen out of 49 non-syndromic MCM patients (34.7%) had chromosome aberration after G-banding. This indicates that G-banding remains an effective first-line screening tool for non-syndromic MCM in Indonesia. Keywords: non-syndromic multiple congenital malformation, phenotype database, G-banding, Indonesia.
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