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All Journal Paediatrica Indonesiana Journal of Nursing and Public Health (JNPH)
AMALIAH, LISSABERTI
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Health Professions Medicine & Pharmacology Nursing

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GENETIC IN CANCER: RB1 MUTATIONS IN RETINOBLASTOMA CASES AMALIAH, LISSABERTI; SUYANTO, JIPRI
Journal of Nursing and Public Health Vol 9 No 1 (2021)
Publisher : UNIVED Press, Universitas Dehasen Bengkulu

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Abstract

Retinoblastoma (RB) is a uncommon childhood malignant ailment induced by means of the biallelic inactivation of RB1 gene. Early analysis and identification of carriers of heritable RB1 mutations can enhance sickness effect and management. In this study, mutational evaluation used to be performed on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and forty one unilateral unrelated RB instances by means of a combinatorial strategy of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, replica wide variety gene dosage evaluation and methylation assays. Screening of each blood and tumor samples yielded a mutation detection charge of 94.9% (56/59) whilst solely 42.4% (25/59) of mutations had been detected if blood samples on my own had been analyzed. Biallelic mutations had been discovered in 43/59 (72.9%) of tumors screened. There have been three instances (5.1%) in which no mutations may want to be detected and germline mutations have been detected in 19.5% (8/41) of unilateral cases. A whole of sixty one factor mutations have been identified, of which 10 had been novel. There was once a excessive incidence of in the past stated recurrent mutations, taking place at 38.98% (23/59) of all cases. Of pastime had been three instances of mosaic RB1 mutations detected in the blood from sufferers with unilateral retinoblastoma. Our findings additionally underscore the significance of genetic checking out in aiding individualized disorder administration plans for sufferers and asymptomatic household individuals carrying low-penetrance, germline mosaicism or heritable unilateral mutational phenotypes.
Hemodynamically significant patent ductus arteriosus and tissue oxygenation in preterm infants Amaliah, Lissaberti; Indrayady, Indrayady; Ramadanti, Afifa; Nova, Ria; Akbari, Atika
Paediatrica Indonesiana Vol. 65 No. 5 (2025): September 2025
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi65.5.2025.364-72

Abstract

Background  One of the most common side effects of preterm birth is hemodynamically significant patent ductus arteriosus (hsPDA), with a prevalence of approximately 70% among preterm infants. The clinical consequences of hsPDA are impaired tissue perfusion and oxygenation to organs. Near-infrared spectroscopy (NIRS), a validated non-invasive method for determining regional oxygen saturation (rSO2), can identify early changes in organ perfusion and oxygenation.  Cerebral and renal tissues as these vital organs are highly susceptible to systemic hypoperfusion caused by hsPDA, which can lead to serious complications such as brain injury and renal insufficiency.  We used (NIRS to clarify the impact of hsPDA on regional oxygenation in the brains and kidneys of preterm infants. Objective To compare oxygenation of cerebral and renal regional tissues in preterm infants with and without hsPDA Methods A cross-sectional study was conducted at Mohammad Hoesin Hospital. Forty preterm infants (gestational age <37 weeks), born between November 2023 and September 2024, who were diagnosed with PDA and had a chronological age >24 hours and <7 days, were enrolled. Infants with multiple congenital anomalies, ductal-dependent cyanotic congenital heart disease, early-onset sepsis, or without parental consent were excluded. Cerebral and renal oxygenation were assessed using NIRS monitoring. Statistical analysis was performed with unpaired T-test. Results Based on echocardiographic criteria, 22 of the 40 infants had hsPDA, while 18 had non-hsPDA. The mean cerebral rSO2 values in the hsPDA and non-hsPDA groups were 79.5 (SD 12.1)% and 80.9 (SD 4.3)%, respectively. The mean renal rSO2 values were 70.4 (SD 17.8)% and 77.8 (SD 6.4)%, respectively. The mean cerebral fractional tissue oxygen extraction (FTOE) values of the hspda and non-hsPDA groups were 0.2 (0.1 to 0.21). The mean renal FTOE values were 0.3 (SD 0.19) and 0.2 (SD 0.07), respectively. There were no significant differences between the two groups in renal and cerebral rSO2 and FTOE. Conclusion Preterm infants’ cerebral and renal tissue oxygenation is  were not significantly different in those with and without hsPDA.  
Co-Authors Afifa Ramadanti Akbari, Atika Indrayady, Indrayady Ria Nova, Ria Suyanto, Jipri