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All Journal Bioscientia Medicina : Journal of Biomedicine and Translational Research Asian Australasian Neuro and Health Science Journal (AANHS-J) Bioscientia Medicina : Journal of Biomedicine and Translational Research
Defranky Theodorus
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Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience

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Bilateral Femoral Agenesis in 3-Month-Old Baby: : A Case Report Foris, Emiliana Susanti; Mario Realino Nara; Defranky Theodorus
Asian Australasian Neuro and Health Science Journal (AANHS-J) Vol. 4 No. 3 (2022): AANHS Journal
Publisher : Talenta Universitas Sumatera Utara

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32734/aanhsj.v4i3.9648

Abstract

Background Bilateral congenital femoral agenesis is a rare congenital anomaly. To the best of our knowledge, only three cases of simple congenital anomaly, three cases associated with femoral facial syndrome, have been reported. We describe a simple form of bilateral femoral agenesis observed in 3-month-old female baby without femoral facial syndrome and non-diabetic mother. Objective We report this case because it is a rare case and needs proper evaluation and management. The majority of cases, however, are sporadic, and therefore, the parents may be reassured that the risk of further offspring being affected is negligible. Case A 3-month-old female baby present with a complaint of short stature. The baby was born full term spontaneous labor, 2570 gram vigorous and started to cry immediately after birth. The mother has no history of diabetes, cigarette smoking, and exposure teratogens. The parents were not related by blood. X-ray examination showed bilateral agenesis of femur, normal tibia and fibula, proximal of cruris in lateral of acetabula. Conclusion Bilateral congenital femoral agenesis is a rare congenital anomaly. Although commonly associated with maternal diabetes mellitus, most cases have no known cause. Keywords: femoral agenesis, congenital deformity
Fatal Lung-Kidney Crosstalk in Bronchopulmonary Dysplasia: A Case of Refractory Weaning Unmasking Confirmed Williams Syndrome and Severe Obstructive Nephrolithiasis Komang Okky Maharani Ciptana Putri; Mario Bernardinus Realino Nara; Defranky Theodorus
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 10 No. 1 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v10i1.1487

Abstract

Background: Bronchopulmonary dysplasia (BPD) is the most common, serious morbidity of prematurity, frequently complicated by a protracted and difficult weaning process from respiratory support. Refractory weaning failure, defined as a lack of response to conventional BPD therapies, should trigger a broad investigation for non-pulmonary, systemic confounders. Case presentation: We present the case of a 1,480-gram, 35+4 weeks' gestation female infant with severe hyaline membrane disease who subsequently developed moderate-to-severe BPD. The infant exhibited refractory respiratory failure, failing multiple extubation attempts, and showing no clinical improvement despite standard BPD management, including a 15-day course of furosemide. On day 58, investigation for worsening cholestasis incidentally revealed a 1.3 cm obstructive right renal calculus with severe hydronephrosis and acute pyelonephritis. This finding, coupled with evolving "elfin" facies, prompted a systemic workup. Key confirmatory data included severe hypercalcemia (13.4 mg/dL) and an echocardiogram revealing supravalvular aortic stenosis (SVAS). These findings, along with a characteristic phenotype, established a clinical diagnosis of Williams Syndrome. The infant rapidly developed urosepsis and anuric acute kidney injury (AKI), culminating in irreversible respiratory failure. Conclusion: This case provides a definitive clinico-pathological correlation for a rare and fatal triad. The severe nephrolithiasis is explained by a "two-hit" mechanism: baseline idiopathic hypercalcemia from Williams Syndrome, massively amplified by iatrogenic hypercalciuria from furosemide therapy. The patient's demise was a direct consequence of lung-kidney crosstalk, wherein the obstructive urosepsis and AKI induced a fatal inflammatory and hydrostatic pulmonary edema that overwhelmed the infant's BPD-compromised lungs.
Fatal Lung-Kidney Crosstalk in Bronchopulmonary Dysplasia: A Case of Refractory Weaning Unmasking Confirmed Williams Syndrome and Severe Obstructive Nephrolithiasis Komang Okky Maharani Ciptana Putri; Mario Bernardinus Realino Nara; Defranky Theodorus
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 10 No. 1 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v10i1.1487

Abstract

Background: Bronchopulmonary dysplasia (BPD) is the most common, serious morbidity of prematurity, frequently complicated by a protracted and difficult weaning process from respiratory support. Refractory weaning failure, defined as a lack of response to conventional BPD therapies, should trigger a broad investigation for non-pulmonary, systemic confounders. Case presentation: We present the case of a 1,480-gram, 35+4 weeks' gestation female infant with severe hyaline membrane disease who subsequently developed moderate-to-severe BPD. The infant exhibited refractory respiratory failure, failing multiple extubation attempts, and showing no clinical improvement despite standard BPD management, including a 15-day course of furosemide. On day 58, investigation for worsening cholestasis incidentally revealed a 1.3 cm obstructive right renal calculus with severe hydronephrosis and acute pyelonephritis. This finding, coupled with evolving "elfin" facies, prompted a systemic workup. Key confirmatory data included severe hypercalcemia (13.4 mg/dL) and an echocardiogram revealing supravalvular aortic stenosis (SVAS). These findings, along with a characteristic phenotype, established a clinical diagnosis of Williams Syndrome. The infant rapidly developed urosepsis and anuric acute kidney injury (AKI), culminating in irreversible respiratory failure. Conclusion: This case provides a definitive clinico-pathological correlation for a rare and fatal triad. The severe nephrolithiasis is explained by a "two-hit" mechanism: baseline idiopathic hypercalcemia from Williams Syndrome, massively amplified by iatrogenic hypercalciuria from furosemide therapy. The patient's demise was a direct consequence of lung-kidney crosstalk, wherein the obstructive urosepsis and AKI induced a fatal inflammatory and hydrostatic pulmonary edema that overwhelmed the infant's BPD-compromised lungs.
Co-Authors Foris, Emiliana Susanti Komang Okky Maharani Ciptana Putri Mario Bernardinus Realino Nara Mario Realino Nara