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Reynaldo, Giovanni
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Health Professions Medicine & Pharmacology Public Health

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Diagnosis dan Tatalaksana Sindrom Prader-Willi Reynaldo, Giovanni; Desiree, Audrey
Cermin Dunia Kedokteran Vol 46, No 11 (2019): Kesehatan Anak
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (220.338 KB) | DOI: 10.55175/cdk.v46i11.404

Abstract

Prader-Willi Syndrome (PWS) adalah penyakit genetik multisistemik kompleks yang diwariskan secara paternal, merupakan penyebab obesitas genetik paling umum dengan perkiraan insidens sebesar 1:15,000 hingga 1:25,000 kelahiran hidup. PWS disebabkan oleh tidak adanya ekspresi gen pada regio kromosom 15q11.2-q13. Komplikasi yang umum meliputi gagal tumbuh pada masa prenatal, fitur dismorfik, perawakan pendek, hipogonadisme, gangguan kognitif, hiperfagia, dan gangguan perilaku. Penanganan PWS memerlukan pendekatan multidisiplin seperti manajemen nutrisi, penanganan insufisiensi adrenal, hipotiroidisme, hipogonadisme, pemberian hormon pertumbuhan, dan tatalaksana Obstructive Sleep Apnea Syndrome untuk menurunkan morbiditas, mortalitas dan meningkatkan kualitas hidup pasien.Prader-Willi Syndrome (PWS) is a multisystemic complex genetic disorder; this syndrome represents the most common genetic cause of obesity with an estimated incidence of 1:15,000 to 1:25,000 live births. PWS is caused by lack of genes expression on the paternally inherited chromosome 15q11.2-q13 region. The cardinal features of PWS include failure to thrive, dysmorphic features, short stature, hypogonadism, cognitive impairment, hyperphagia, and behavioral problems. A multidiscipline approach on PWS management is needed, such as nutritional management, adrenal insufficiency management, hypothyroidism, hypogonadism, growth hormone administration, and the management of Obstructive Sleep Apnea Syndrome to decrease morbidity and mortality, while increasing the quality of life.  
Karakteristik Klinis Serta Pengaruh Reseptor ACE2 dan Sel Natural Killer Terhadap Gejala COVID-19 pada Anak Reynaldo, Giovanni
Cermin Dunia Kedokteran Vol 48, No 3 (2021): Obstetri dan Ginekologi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (152.414 KB) | DOI: 10.55175/cdk.v48i3.1338

Abstract

Coronavirus Disease 2019 (COVID-19) yang disebabkan oleh virus SARS-CoV-2, pertama kali dilaporkan di Wuhan, China pada Desember 2019. Gejala pada anak umumnya cukup ringan. Faktor yang bisa berperan yaitu usia di bawah 10 tahun, memiliki respon imun bawaan aktif dan saluran napas yang lebih sehat, paparan terhadap asap rokok dan polusi lebih rendah dibandingkan pada orang tua, serta imaturitas reseptor angiotensin converting enzyme 2 (ACE2) yang merupakan tempat utama berikatan COVID-19. Faktor lain juga tingginya sel natural killer (NK).Coronavirus Disease 2019 (COVID-19) caused by the SARS-CoV-2 virus was first reported in Wuhan, China in December 2019. Symptoms in children are generally mild. Factors that can contribute including innate immune response in children under 10 year-old, healthier airways, lower exposure to cigarette smoke and pollution compared to adult, and immaturity of the angiotensin converting enzyme 2 (ACE2) receptor, the most frequent binding site for COVID-19. Another factor that can contribute is the high level of natural killer (NK) cells.
Co-Authors Carsantiningrum, Bernadina Cynthia Desiree, Audrey Susanti, Yurika Elizabeth