Iffa Mutmainah
Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia, and the Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report Iffa Mutmainah; Willy Nillesen; Farmaditya Mundhofir; Tri Winarni; Ineke van der Burgt; Helger Yntema; Sultana Faradz
Paediatrica Indonesiana Vol 56 No 1 (2016): January 2016
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (488.374 KB) | DOI: 10.14238/pi56.1.2016.62-6

Abstract

Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2In 2001, missense mutations in
A COVID-19 Ringan Pada Tenaga Medis: Evaluasi Temuan Klinis dan Risiko Transmisi Mahrani; Hana Khairina Putri Faisal; Paramita Khairan; Iffa Mutmainah; Fitriana Nur Rahmawati; Sarah Shafa Marwadhani; Gadistya Novitri Adinda; Uti Sari; Pukovisa Prawirohardjo
Majalah Kedokteran Indonesia Vol 70 No 4 (2020): Journal of The Indonesian Medical Association - Majalah Kedokteran Indonesia, Vo
Publisher : PENGURUS BESAR IKATAN DOKTER INDONESIA (PB IDI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.47830/jinma-vol.70.4-2020-223

Abstract

Objective: Since December 2019, COVID-19 has become a global concern causing more than thousands of deaths worldwide. The major challenge in fighting against this new emerging disease is the limited data regarding the heterogeneity of its clinical and epidemiological features. We aim to fill this knowledge gap by evaluating a mild case of COVID-19 infecting a health worker in Indonesia.Method: We report a 31-year-old male doctor who was hospitalized for mild pneumonia with positive SARS-CoV-2 swab testResult: This case presents an estimated incubation period of 2 days. The patient showed mild upper respiratory symptoms without significant pneumonia symptoms, however mild pneumonia was confirmed by the presence of fever and pulmonary infiltrates on imaging. Despite the seemingly mild symptoms, there was a complex systemic reaction as thrombocytopenia and elevated aminotransferase enzyme occurred. The patient is a health worker susceptible to SARS-CoV-2 transmission with a close contact history with a suspected COVID-19 patient, without wearing an adequate personal protective equipment (PPE).Conclusion: Patients with mild presentation of COVID-19 could exhibit a complex systemic reaction and organ injury. The use of an appropriate PPE among health workers is crucial to prevent patient-to-doctor transmission.
Abses Paru pada COVID-19 Adi Kurniawan; Paramita Khairan; Nurfanida Librianty; Mahrani; Hana Faisal; Iffa Mutmainah; Fitriana Nur Rahmawati; Sarah Shafa Marwadhani; Gadistya Novitri Adinda; Uti Nilam Sari; Pukovisa Prawirohardjo
Majalah Kedokteran Indonesia Vol 70 No 8 (2020): Journal of The Indonesian Medical Association - Majalah Kedokteran Indonesia, Vo
Publisher : PENGURUS BESAR IKATAN DOKTER INDONESIA (PB IDI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.47830/jinma-vol.70.8-2020-255

Abstract

Objective: COVID-19 is a new emerging disease since December 2019 that later was announced by WHO as a global pandemic. Radioimaging appearance of COVID-19 is varied yet dominantly showed as a ground glass appearance in CT-imaging. Lung abscess in COVID-19 is an extremely rare case, therefore it needs further discussion. Method: We report a 39 year-old male patient of COVID-19 with lung abscessResult: This case report describe a COVID-19 patient who showed a very rare clinical manifestation; lung abscess. The patient showed negative result of TB molecular test. Chest tube insertion procedure was performed in this patient who showed an improvement after abscess being drained. Conclusion: Lung abscess may occur in COVID-19. Abscess drainage procedure may improve clinical condition of COVID-19 patient.