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All Journal Jurnal Kedokteran Diponegoro Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research
Albertus Ari Adrianto
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Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Neuroscience

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Unveiling Peutz-Jeghers Syndrome in the Fourth Decade: A Rare Case of Colorectal-Predominant Polyposis and High-Grade Dysplasia without Pathognomonic Pigmentation Fuadhi Rifky; Albertus Ari Adrianto; Martahadinan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 10 No. 5 (2026): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v10i5.1587

Abstract

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. While typically presenting in childhood with small bowel predominance, adult-onset cases lacking classical phenotypic markers present severe diagnostic challenges. Case presentation: A 41-year-old male with no significant family history presented with a six-month history of progressive constipation, altered stool caliber, and hematochezia. Clinical examination revealed an absolute absence of pathognomonic mucocutaneous pigmentation. Abdominal imaging and full colonoscopy demonstrated an extensive colorectal polyposis burden extending from the rectosigmoid junction to the caecum. Histopathology of the resected tissue confirmed hamartomatous polyps featuring arborizing smooth muscle cores alongside focal high-grade dysplasia. The patient successfully underwent an elective total proctocolectomy with an ileal J-pouch anal anastomosis and a diverting loop ileostomy. Postoperative recovery was completely unremarkable. Conclusion: This case underscores the profound phenotypic heterogeneity of PJS. The presence of an extensive colorectal burden and high-grade dysplasia in an adult lacking mucocutaneous pigmentation highlights the definitive malignant potential of hamartomatous polyps and the critical necessity for prompt surgical intervention and tailored surveillance in atypical clinical presentations.
Delayed Right-Sided Traumatic Diaphragmatic Rupture Complicated by Hepatothorax and Visceral Herniation a Decade Post-Trauma: A Case Report Mada Aji Prakoso; Albertus Ari Adrianto; Parish Budiono
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 10 No. 5 (2026): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v10i5.1586

Abstract

Background: Traumatic diaphragmatic rupture (TDR) is a rare consequence of high-energy blunt trauma, accounting for less than 1% of all traumatic injuries. Right-sided ruptures are particularly uncommon, representing only 5% to 20% of cases, largely due to the protective anatomical positioning of the liver. Consequently, right-sided injuries are notoriously difficult to detect, often leading to a delayed diagnosis. Case presentation: We present the case of a 29-year-old female who presented with progressive dyspnea ten years after sustaining a motor vehicle collision. Her initial injury was managed as a right-sided hemothorax, with the diaphragmatic defect remaining undetected. A decade later, imaging revealed an elevated right hemidiaphragm with massive herniation of the liver, gallbladder, transverse colon, and omentum into the right thoracic cavity. The patient underwent a successful abdomino-thoracotomy with primary repair of a 10 cm x 4 cm defect, reinforced with a prosthetic mesh. She was discharged on postoperative day seven with an uneventful recovery. Conclusion: This case emphatically highlights the persistent, lifelong risk of delayed visceral herniation following thoracoabdominal trauma. A high index of suspicion must be maintained for patients presenting with delayed respiratory symptoms, as prompt surgical intervention yields excellent outcomes.
Unveiling Peutz-Jeghers Syndrome in the Fourth Decade: A Rare Case of Colorectal-Predominant Polyposis and High-Grade Dysplasia without Pathognomonic Pigmentation Fuadhi Rifky; Albertus Ari Adrianto; Martahadinan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 10 No. 5 (2026): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v10i5.1587

Abstract

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. While typically presenting in childhood with small bowel predominance, adult-onset cases lacking classical phenotypic markers present severe diagnostic challenges. Case presentation: A 41-year-old male with no significant family history presented with a six-month history of progressive constipation, altered stool caliber, and hematochezia. Clinical examination revealed an absolute absence of pathognomonic mucocutaneous pigmentation. Abdominal imaging and full colonoscopy demonstrated an extensive colorectal polyposis burden extending from the rectosigmoid junction to the caecum. Histopathology of the resected tissue confirmed hamartomatous polyps featuring arborizing smooth muscle cores alongside focal high-grade dysplasia. The patient successfully underwent an elective total proctocolectomy with an ileal J-pouch anal anastomosis and a diverting loop ileostomy. Postoperative recovery was completely unremarkable. Conclusion: This case underscores the profound phenotypic heterogeneity of PJS. The presence of an extensive colorectal burden and high-grade dysplasia in an adult lacking mucocutaneous pigmentation highlights the definitive malignant potential of hamartomatous polyps and the critical necessity for prompt surgical intervention and tailored surveillance in atypical clinical presentations.
Co-Authors Adhi Setradian Anto Maria Awal Prasetyo Edwin Basyar Endang Mahati Faiz Muhammad Al As'ady Fuadhi Rifky Jeffrey Eka Wijaya Kevin Putra Pratama Mada Aji Prakoso Martahadinan Nurul Ahmad Isnaini Parish Budiono Reyhan Zuhdi Gofita Widyawigata Udadi Sadhana Yan Wisnu Prajoko