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Bioscientia Medicina : Journal of Biomedicine and Translational Research

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ISSN : - EISSN : 25980580 DOI : https://doi.org/10.37275/bsm

Core Subject : Health, Science,

Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Neuroscience

This journal welcomes the submission of articles that offering a sensible transfer of basic research to applied clinical medicine. BioScientia Medicina covers the latest developments in various fields of biomedicine with special attention to : 1.Rhemumatology 2.Molecular aspect of Indonesia Traditional Herb 3.Cardiology and Cardiovascular diseases 4.Genetics 5.Immunology 6.Environmental health 7.Toxicology 8. Neurology 9. Pharmacology 10. Oncology 11. Other multidisciplinary studies related medicine. The views of experts on current advances in nanotechnology and molecular/cell biology will be also considered for publication as long as they have a direct clinical impact on human health.

Arjuna Subject : Kedokteran - Kedokteran (Lain-Lain)

Articles 1,165 Documents

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Temporal Dynamics of Postoperative Enterocolitis in Hirschsprung Disease: A Comparative Analysis of Earlier Onset After TAERPT versus the Duhamel Procedure Anisa Ika Pratiwi; Nunik Agustriani; Suwardi; Ida Bagus Budhi Surya Adnyana; Henky Agung Nugroho
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.v10i1.1478

Background: Hirschsprung-associated enterocolitis (HAEC) remains the most formidable cause of morbidity in surgically corrected Hirschsprung disease (HD). While the transanal endorectal pull-through (TAERPT) and the Duhamel procedure are standard treatments, a critical knowledge gap exists regarding the timing of postoperative HAEC onset associated with each technique. This study aimed to investigate and compare the temporal dynamics of HAEC presentation following these distinct surgical reconstructions. Methods: This single-center, retrospective cohort study reviewed 64 HD patients who underwent either TAERPT (n=32) or a modified Duhamel procedure (n=32) between January 2022 and January 2023 at a tertiary referral hospital. The primary outcome was the incidence of severe HAEC (HAEC score ≥10). The principal secondary outcome was the time to onset of the first episode of mild-to-moderate HAEC (score <10). Due to the non-normal distribution of onset data, the Mann-Whitney U test was used for statistical comparison. Results: Baseline demographic and clinical characteristics were comparable between the two cohorts. The incidence of severe HAEC was 0% in both the TAERPT and Duhamel groups. All recorded complications were mild-to-moderate and managed non-surgically. A statistically significant and clinically profound difference in the timing of these complications was observed. The median onset of HAEC in the TAERPT group was 6.0 months (Interquartile Range [IQR], 3.0-6.0), which was significantly earlier than the median onset of 8.5 months (IQR, 3.0-24.0) in the Duhamel group (p < 0.001). The mean onset times were 5.50 ± 1.90 months and 16.09 ± 16.33 months, respectively. Conclusion: Although both TAERPT and the Duhamel procedure demonstrated excellent safety profiles regarding severe HAEC, their associated temporal patterns of mild-to-moderate enterocolitis are markedly different. The significantly earlier onset of complications following TAERPT suggests that postoperative surveillance strategies should be procedure-specific, with intensified clinical vigilance during the first postoperative year for TAERPT patients.

Intraoperative Endoscopy as a Navigational Adjunct in Laparoscopic Heller Myotomy for Achalasia: A Consecutive Case Series Jonathan Alvin Nugraha Halim; Ahmad Fathi Fuadi; Dimas Erlangga Nugrahadi; Agung Aji Prasetyo
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.v10i1.1479

Background: Laparoscopic Heller myotomy (LHM) is a primary surgical treatment for esophageal achalasia. Achieving a complete myotomy while avoiding mucosal perforation is paramount for success, yet intraoperative challenges persist. Intraoperative endoscopy (IOE) is recommended by guidelines but remains underutilized. This study aims to illustrate the methodological application and clinical utility of a standardized IOE protocol in LHM. Methods: This study was a retrospective analysis of a prospectively maintained database of a consecutive series of patients who underwent LHM with routine IOE for achalasia at our institution in 2023. We present three consecutive cases. Preoperative evaluation included esophagography, upper endoscopy, and high-resolution manometry (HRM). The primary outcomes were the adequacy of myotomy, incidence of mucosal perforation, and postoperative symptomatic relief measured by the Eckardt score at three months. Results: Three female patients (aged 19, 30, and 65) with achalasia (Type I and II) underwent LHM with IOE. The mean preoperative Eckardt score was 9.3 ± 1.5. IOE was successfully used in all cases to: (1) precisely identify the gastroesophageal junction (GEJ) via transillumination, (2) facilitate submucosal dissection through controlled insufflation, (3) confirm mucosal integrity with an air leak test, and (4) verify a patulous GEJ post-myotomy. No mucosal perforations occurred. At three-month follow-up, the mean Eckardt score significantly improved to 0.3 ± 0.6 (p < 0.05). All patients reported resolution of dysphagia and significant improvement in nutritional status. Conclusion: Our experience with this consecutive series supports the utility of systematic IOE during LHM. It appears to be a valuable tool for enhancing procedural safety, ensuring myotomy adequacy, and achieving optimal short-term functional outcomes. These findings reinforce existing guidelines and should encourage wider adoption of this critical surgical adjunct.

Ultrasound-Guided Neuraxial Precision in a High-Risk Adolescent Parturient: Navigating Anesthetic Management in the Confluence of Nephrotic Syndrome, Diastolic Heart Failure, and Anasarca Made Bagus Cahya Maha Putra; Tjokorda Gde Agung Senapathi; I Gusti Ngurah Mahaalit Aribawa
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.v10i1.1480

Background: Anesthetic management for cesarean delivery in parturients with concurrent nephrotic syndrome and decompensated heart failure presents a profound clinical challenge. Severe anasarca can obliterate anatomical landmarks, while complex cardiorenal pathophysiology creates a state of extreme hemodynamic fragility. This case report describes a systematic, ultrasound-guided approach to overcome these obstacles. Case presentation: A 15-year-old primigravida at 33 weeks gestation, with new-onset nephrotic syndrome and decompensated heart failure (NYHA Class III), required an emergency cesarean section. Clinical examination revealed severe anasarca, rendering lumbar spinal landmarks impalpable. A systematic pre-procedural lumbar ultrasound examination was performed using a low-frequency curvilinear transducer. This allowed for precise identification of the L3-L4 interspace and an accurate skin-to-dura depth measurement of 4.6 cm. A single-attempt subarachnoid block was successfully performed with a reduced dose (10 mg) of hyperbaric bupivacaine. An adequate T4 sensory block was achieved for surgery. The patient remained remarkably hemodynamically stable throughout the procedure, with no episodes of hypotension requiring vasopressor support. A healthy infant was delivered, and both maternal and neonatal outcomes were excellent. Conclusion: This case demonstrates that a systematic pre-procedural ultrasound protocol is an indispensable tool for enhancing the safety and success of neuraxial anesthesia in high-risk obstetric patients. By enabling precise anatomical localization and informed dose reduction, it mitigates procedural risk and supports hemodynamic stability in the face of distorted anatomy and severe cardiorenal comorbidities.

Dose- and Time-Dependent Efficacy of Topical Hydroquinone in Establishing a C57BL/6 Mouse Model of Vitiligo Benedikta Lauda; Nurrachmat Mulianto; Endra Yustin Ellistasari; Muhammad Eko Irawanto
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.v10i1.1481

Background: Vitiligo is a complex autoimmune depigmenting disorder driven by melanocyte-specific CD8+ T cells, oxidative stress, and genetic susceptibility. The lack of standardized, accessible animal models that recapitulate these pathways hinders therapeutic development. This study aimed to systematically optimize and validate a chemically-induced vitiligo model in C57BL/6 mice. Methods: Eighty (80) male C57BL/6 mice were randomized into ten groups (n=8/group). Experimental groups received once-daily topical applications of hydroquinone (HQ) at 2.5%, 5%, or 10%, or monobenzone (MBZ) at 40% for 8 or 16 days. Vehicle-treated mice served as controls. Efficacy was assessed via quantitative histopathology (Masson-Fontana staining for melanin area), biomolecular assays for oxidative stress (Malondialdehyde [MDA] and Superoxide Dismutase [SOD]), and RT-qPCR for melanogenesis-related (Tyr) and inflammation-related (Tnf) gene expression. Results: A clear dose- and time-dependent depigmentation was observed. The 10% HQ 16-day protocol was maximally effective, inducing a profound reduction in epidermal melanin area (0.06 ± 0.02) compared to 16-day controls (0.40 ± 0.04; p < 0.001). This histopathological finding was significantly correlated with severe cutaneous oxidative stress, evidenced by a 3.75-fold increase in MDA (p < 0.001) and a 50% reduction in SOD activity (p < 0.001) versus controls. Furthermore, this regimen caused a potent suppression of Tyr expression (0.15-fold change; p < 0.001) and a significant upregulation of the pro-inflammatory cytokine Tnf (3.8-fold change; p < 0.001). Conclusion: The 16-day topical application of 10% hydroquinone is a reliable, rapid, and highly reproducible protocol for inducing vitiligo-like depigmentation in C57BL/6 mice. This model successfully recapitulates key pathophysiological pillars of human vitiligo, including melanocytotoxicity, profound oxidative stress, and a pro-inflammatory cutaneous environment, establishing it as a valuable platform for preclinical therapeutic screening.

The Clinical Spectrum and Management Patterns of Orbital Meningioma: A 6-Year Single-Institution Case Series from Indonesia Anggia Dwi Kora; Mardijas Effendi; Ardizal Rahman
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.v10i1.1482

Background: Orbital meningiomas (OMs) are rare, complex tumors whose clinical course and management are debated. Data from Southeast Asian populations, particularly Indonesia, is scarce. This study aims to define the clinical spectrum, radiological features, and management trends of OMs at a single Indonesian tertiary referral center, with a focus on hormonal factors in a predominantly female cohort. Methods: A retrospective, descriptive case series was conducted on all patients diagnosed with orbital meningioma at Dr. M. Djamil General Hospital, Padang, Indonesia, from January 2018 to December 2023. Data on demographics, detailed clinical presentation (visual acuity, proptosis, extraocular movement), radiological findings (location, size, hyperostosis), and hormonal risk factors were collected. Management strategies, histopathological results (WHO grade), and follow-up outcomes were analyzed. Results: Twenty patients were included, with a significant female predominance (n=16, 80%; F:M ratio 4:1). The median age at diagnosis was 47 years (range 28-71). A strong association with hormonal factors was noted; 50% (8/16) of female patients had a history of exogenous hormonal contraceptive use. The most common presenting symptoms were progressive proptosis (n=15, 75%) and visual loss (n=12, 60%). The mean proptosis was 5.5 ± 2.1 mm. The most frequent tumor location was retrobulbar (intraconal) (n=11, 55%), followed by optic nerve sheath (n=5, 25%). A multidisciplinary, conservative-led approach was the primary management strategy, with 75% (n=15) of patients managed with active observation and neurosurgical consultation. Surgical intervention was performed in 25% (n=5) of cases, primarily for severe symptoms or aggressive radiological features. Histopathology (n=5) confirmed WHO Grade I in four cases (80%) and WHO Grade II (atypical) in one case (20%). Conclusion: Orbital meningiomas in this Indonesian cohort demonstrate a striking female predominance and a strong association with hormonal contraceptive use, suggesting a significant role for hormonal pathways in their pathophysiology. The management paradigm has shifted towards a multidisciplinary, observation-first approach, reserving surgical intervention for cases with documented progression, severe vision loss, or high-grade pathological features.

Whey Protein as an Adjuvant Therapy for Wound Healing and Infection Control: A Systematic Review and Meta-Analysis of Clinical and Preclinical Evidence Aliva Nabila Farinisa; Niken Puruhita; Yan Wisnu Prajoko; Felix Setiawan
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.v10i1.1483

Background: Impaired wound healing and subsequent infections represent a significant clinical and economic burden. Nutritional status, particularly high-quality protein provision, is a critical, modifiable determinant of healing outcomes. Whey protein (WP), a rich source of essential amino acids and unique bioactive components, has emerged as a promising adjuvant therapy. Methods: We conducted a systematic review and meta-analysis adhering to PRISMA guidelines. We searched PubMed, Scopus, and Web of Science from January 2015 to December 2024 for clinical randomized controlled trials (RCTs) and preclinical controlled studies evaluating WP supplementation on wound healing and infection. Rigorous inclusion criteria led to the selection of seven studies (four clinical RCTs, three preclinical) for quantitative synthesis. Data were pooled using a random-effects model to calculate Standardized Mean Differences (SMD) for continuous outcomes and Odds Ratios (OR) for dichotomous outcomes. Results: The meta-analysis of four clinical RCTs (n=340 patients) demonstrated that WP supplementation significantly accelerated wound healing (SMD = 0.78; 95% CI 0.45, 1.11; p < 0.0001) with moderate heterogeneity (I²=38%). Furthermore, WP significantly reduced the odds of wound infection by 48% (OR = 0.52; 95% CI 0.31, 0.87; p=0.01) with no heterogeneity (I²=0%). Preclinical synthesis (3 studies, n=62 animals) revealed a significant reduction in pro-inflammatory cytokines (TNF-α, IL-6) at the wound site (SMD = -1.15; 95% CI -1.67, -0.63; p < 0.0001). Conclusion: This meta-analysis provides robust quantitative evidence that whey protein functions as an effective adjuvant therapy, significantly enhancing wound repair and providing clinically relevant infection control. These benefits appear to be mediated by a dual mechanism: providing essential anabolic substrates for tissue repair and exerting potent immunomodulatory and antioxidant effects via bioactive components like lactoferrin and cysteine.

Adjunctive Vaginal Probiotic Therapy for Preterm Premature Rupture of Membranes: A Systematic Review and Meta-Analysis of Latency Period, Maternal Infection, and Neonatal Morbidity Vani Ardiani; Donel S; Maya Savira; Zulmaeta
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.v10i1.1484

Background: Preterm premature rupture of membranes (PPROM) significantly drives preterm birth rates and consequent neonatal morbidity and mortality. While standard antibiotic therapy aims to prolong pregnancy latency, it concurrently disrupts the protective vaginal microbiota. Adjunctive vaginal probiotics have been investigated as a means to restore beneficial flora, potentially mitigating ascending infection and improving perinatal outcomes. This study systematically synthesized the current randomized trial evidence regarding this adjunctive therapeutic strategy. Methods: We performed a systematic review and meta-analysis following PRISMA guidelines. PubMed, EMBASE, and CENTRAL databases were searched (2014–October 2025) for randomized controlled trials (RCTs) comparing adjunctive vaginal probiotics plus antibiotics versus antibiotics (alone or with placebo) in singleton pregnancies complicated by PPROM between 24+0 and 34+0 weeks’ gestation. Primary outcomes included the latency period (days) and maternal chorioamnionitis or infectious morbidity. Key secondary outcomes were neonatal intensive care unit (NICU) admission, neonatal sepsis, and neonatal mortality. Data were pooled using a random-effects model, calculating Mean Differences (MD) or Risk Ratios (RR) with 95% Confidence Intervals (CI). Risk of bias was assessed using the Cochrane RoB 2 tool. Results: Three RCTs, encompassing 330 participants, met the inclusion criteria. Significant methodological limitations, including high risk of bias and critical baseline confounding by gestational age in the largest trial, were identified across the included studies. A sensitivity analysis addressing high heterogeneity (I²=98%) for latency (excluding one retrospective study; n=290) indicated a modest but statistically significant prolongation associated with probiotics (MD 2.98 days; 95% CI 1.80–4.16; p<0.0001; I²=0%). Probiotic use was linked to a significantly lower risk of maternal infection (RR 0.43; 95% CI 0.24–0.77; p=0.005; I²=0%; n=270). Statistically significant reductions were also observed for NICU admission (RR 0.59; 95% CI 0.46–0.75; p<0.0001; I²=55%; n=330) and neonatal mortality (RR 0.38; 95% CI 0.18–0.81; p=0.01; I²=0%; n=270), although these estimates are likely inflated due to baseline confounding. Conclusion: This meta-analysis suggests adjunctive vaginal probiotics may offer benefits in PPROM management by modestly prolonging latency and significantly reducing maternal infectious morbidity. While substantial reductions in NICU admission and neonatal mortality were observed, these findings must be interpreted with extreme caution due to the limited quantity and low quality of the primary evidence, particularly the high risk of bias and confounding. Definitive conclusions cannot be drawn, and routine clinical adoption is not supported by current evidence. High-quality, large-scale RCTs are imperative.

Ecthyma Contagiosum (Orf Virus) Masquerading as Subcorneal Pustular Dermatosis: A Diagnostic Pitfall in an Adolescent Lisa Alverina; Luh Made Mas Rusyati; Suharmono Hadi; Herman Saputra
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.v10i1.1485

Background: Ecthyma contagiosum (Orf) is a zoonotic viral infection caused by a Parapoxvirus, typically presenting as a self-limiting, solitary cutaneous lesion on the hands of occupationally exposed individuals. Atypical, multifocal, or pustular presentations can pose a significant diagnostic challenge, mimicking various inflammatory dermatoses. Case presentation: We present the case of a 17-year-old female with no direct animal contact who developed a progressive, widespread, and painful pustular eruption on her extremities over three weeks. The clinical presentation was highly suggestive of Subcorneal Pustular Dermatosis (SPD), prompting treatment with systemic corticosteroids, which led to clinical worsening. A delayed epidemiological history revealed an environmental link to a nearby goat farm and a family cluster of similar, milder lesions. A diagnostic punch biopsy was pivotal, revealing viral cytopathic effects, including extensive ballooning degeneration and epidermal necrosis, inconsistent with SPD. Subsequent bacterial culture confirmed superinfection with Enterobacter cloacae ssp. cloacae. The diagnosis was established by the pathognomonic histopathological findings. Conclusion: The patient’s steroid therapy was immediately ceased, and targeted antibiotic therapy was initiated, leading to complete resolution. This case highlights the Orf virus as a critical clinical chameleon and a diagnostic pitfall for generalized pustular eruptions. It underscores the necessity of a high index of suspicion for zoonoses, even in non-occupational settings, and confirms the indispensable role of histopathology in differentiating viral cytopathy from sterile neutrophilic dermatoses to prevent iatrogenic harm from inappropriate immunosuppression.

Vitamin D in the Breast Cancer Continuum: A Systematic Review and Meta-Analysis of Primary Prevention, Patient Prognosis, and Adjunctive Treatment Response Felix Setiawan; Yan Wisnu Prajoko; Niken Puruhita; Aliva Nabila Farinisa
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.v10i1.1486

Background: The role of vitamin D across the breast cancer spectrum remains complex and contested. Compelling preclinical antineoplastic mechanisms contrast with inconsistent clinical findings. Large randomized controlled trials (RCTs) show null effects for primary prevention, while observational studies often link higher vitamin D status at diagnosis with better prognosis. Key conflicts include this prevention-prognosis disconnect, debates over linear versus J-shaped prognostic dose-responses, and a "receptor-status paradox" where estrogen receptor-positive (ER-positive) disease shows prognostic links, but hormone receptor-negative (HR-negative)/triple-negative (TNBC) subtypes derive greater benefit (improved pathological complete response, pCR) from vitamin D intervention during neoadjuvant chemotherapy (NACT). This study systematically synthesizes evidence across these distinct clinical contexts. Methods: Following PRISMA guidelines, we systematically reviewed PubMed, EMBASE, and CENTRAL (January 1st, 2014–September 2nd, 2025) for high-impact RCTs and large prospective cohort studies evaluating vitamin D supplementation or serum 25-hydroxyvitamin D (25(OH)D) levels regarding breast cancer incidence, prognosis (survival/recurrence), or pCR after NACT. Quality was assessed (Cochrane RoB 2; Newcastle-Ottawa Scale). Data were extracted dually. Findings were synthesized stratigraphically (prevention, prognosis, treatment). A random-effects meta-analysis pooled pCR data from NACT RCTs. Results: Six high-quality studies (3 RCTs, 3 cohorts; N=31,026) were included. (1) Prevention: The VITAL RCT (N=25,871; mean baseline 25(OH)D 30.8 ng/mL) found no reduction in incident invasive breast cancer with 2000 IU/day vitamin D3 (HR 1.02, 95% CI 0.79–1.31). (2) Prognosis: Cohort studies (N=4,835) showed higher 25(OH)D linked to better OS (Adj HR T3 vs T1: 0.72). Complexity emerged: one study linked benefit specifically to ER-positive recurrence (Adj HR 0.87), while another reported a J-shaped curve for EFS, with worse outcomes at both low (≤52 nmol/L; Adj HR 1.63) and high (≥99 nmol/L; Adj HR 1.37) levels versus intermediate. (3) Treatment: Meta-analysis of two NACT RCTs (N=310) showed vitamin D supplementation significantly increased pCR rates (38.1% vs 22.6%; Pooled RR 1.69, 95% CI 1.21–2.36; P=0.002; I²=0%). Subgroup data strongly suggested greater benefit in HR-negative/TNBC and baseline-deficient patients. Conclusion: Vitamin D supplementation appears ineffective for primary breast cancer prevention in replete populations. Its prognostic role is complex, suggesting an optimal 25(OH)D range (potentially ~30-40 ng/mL) and possible ER-specific hormonal modulation effects, though causality from observational data remains uncertain. Critically, vitamin D intervention during NACT significantly improves pCR, particularly in HR-negative/TNBC, likely via distinct chemosensitization/immunomodulatory mechanisms. This synthesis provides a framework for understanding these context-dependent roles, supporting vitamin D assessment and potentially adjunctive NACT supplementation, especially in deficient patients with aggressive subtypes, pending necessary validation in larger trials.

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

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.

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Contact Name Rachmat Hidayat

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Editorial Address Jl. Sirna Raga no 99, 8 Ilir, Ilir Timur 3, Palembang

Location Kota palembang, Sumatera selatan INDONESIA

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Contact Name
Rachmat Hidayat

Contact Email
dr.rachmat.hidayat@gmail.com

Phone
+6281949581088

Journal Mail Official
editor.bioscmed@gmail.com

Editorial Address
Jl. Sirna Raga no 99, 8 Ilir, Ilir Timur 3, Palembang

Location
Kota palembang,

Sumatera selatan

INDONESIA