Giant bladder uric acid stone with a history of prolonged sun exposure and high protein diet in North Moluccas: Case series.

INTRODUCTION: Giant bladder uric acid stone cases that have more than 4 cm in diameters and weighing more than 100 g are considered rare. PRESENTATION OF CASES: At the end of 2019, two men presented with chronic lower abdominal pain since five years ago. Abdominal radiography found a giant opaque mass inside the bladder. Open suprapubic cystolithotomy was performed by a general surgeon. Both giant bladder stones were extracted and measured approximately 11 × 7 × 6 cm and 500 g in weight. More than 80 % of stone composition was uric acid. Neither of the patients developed severe complications after the procedure. DISCUSSION: Our patients had a history of prolonged sun exposure related to occupation and high protein intake. Benign prostatic hyperplasia as a major underlying cause for stone formation was not found in the digital rectal examination. Prostatectomy was not performed. Uric acid stone is common in Southeast Asia, with a multifactorial pathogenesis. CONCLUSIONS: Open suprapubic cystolithotomy is the best method to extract giant bladder stones in limited settings in the rural areas of Indonesia. It was likely that the most important factors associated with the stone formation were the climate and dietary habits. The findings showed that pathogenesis of bladder stone formation and particularly, uric acid bladder stone is still not clearly understood.

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients.

Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of SEMA3D variants, both rare and common variants, as well as its mRNA expression in Indonesian HSCR patients. Methods: Sanger sequencing was performed in 54 HSCR patients to find a pathogenic variant in SEMA3D. Next, we determined SEMA3D expression in 18 HSCR patients and 13 anorectal malformation colons as controls by quantitative real-time polymerase chain reaction (qPCR). Results: No rare variant was found in the SEMA3D gene, except one common variant in exon 17, p.Lys701Gln (rs7800072). The risk allele (C) frequency at rs7800072 among HSCR patients (23%) was similar to those reported for the 1,000 Genomes (27%) and ExAC (28%) East Asian ancestry controls (p = 0.49 and 0.41, respectively). A significant difference in SEMA3D expression was observed between groups (p = 0.04). Furthermore, qPCR revealed that SEMA3D expression was strongly up-regulated (5.5-fold) in the ganglionic colon of HSCR patients compared to control colon (ΔCT 10.8 ± 2.1 vs. 13.3 ± 3.9; p = 0.025). Conclusions: We report the first study of aberrant SEMA3D expressions in HSCR patients and suggest further understanding into the contribution of aberrant SEMA3D expression in the development of HSCR. In addition, this study is the first comprehensive analysis of SEMA3D variants in the Asian ancestry.

Double Pedicle Artery Rotation Sigmoid Vaginoplasty for Vaginal Aplasia Management.

Sigmoid vaginoplasty has been popular for neovagina reconstruction in vaginal aplasia. The most common surgical complication was vaginal stenosis caused by inadequate vascularization and tension because of graft length. Therefore, ischemia ensued and disrupted wound healing. The selection of double pedicle artery rotation sigmoid vaginoplasty is expected to reduce this problem. Five patients from April to December 2016 were diagnosed with vaginal aplasia; 4 had history of neovagina stenosis. These patients underwent sigmoid vaginoplasty with double pedicle artery rotation. No complications occurred during or after the procedure. Assessment postsurgery was conducted at 1 year. These results suggest that double pedicle artery rotation sigmoid vaginoplasty is a safe and acceptable technique for management of vaginal aplasia. The procedure decreased tension inside vascular pedicles as a result of maintaining abundant vascularization supply. Consequently, this procedure could avert graft necrosis, leakage, and severe stenosis. All of the patients exhibited regular menstrual cycle and satisfactory sexual activity. The outcomes were excellent with remarkable anatomical and functional results.