Medical Journal of Indonesia

Short stature and stunting in Indonesia: problems and innovative alternative solutions

Agus Rizal Ardy Hariandy Hamid — Mon, 17 Apr 2023 12:10:09 +0700

[No abstract available]

Association between interleukin-2 (rs2069762) gene polymorphism and FVIII inhibitor development in Indonesian patients with severe hemophilia A

Wed, 08 Mar 2023 00:00:00 +0700

BACKGROUND Factor VIII (FVIII) inhibitors in hemophilia A (HA) patients render FVIII replacement therapy ineffective. Although its development cause is unclear, it has been classified into therapeutic and genetic-related etiologies. Single nucleotide polymorphisms (SNPs) in several cytokine genes, including interleukin (IL)-2, could increase the risk of FVIII inhibitor development. This study aimed to evaluate the association between IL-2 (rs2069762) gene SNP and FVIII inhibitor development in Indonesian patients with severe HA.

METHODS The IL-2 (rs2069762) gene SNP was examined in 119 HA patients. The presence of FVIII inhibitors was quantified using an enzyme-linked immunosorbent assay, with a titer of <0.28 ng/ml considered negative. Patients were divided into two groups: 59 with FVIII inhibitors (positive group) and 60 without inhibitors (negative group). The genotype of the subjects was determined using peripheral blood mononuclear cells and tetra-primer amplification refractory mutation system-polymerase chain reaction.

RESULTS There was no association between IL-2 (rs2069762) gene polymorphism and FVIII inhibitor development on genotypes (p = 0.138) and allele frequencies (p = 0.780).

CONCLUSIONS IL-2 (rs2069762) gene polymorphism is not a risk factor in the development of FVIII inhibitors in Indonesian patients with severe HA. Thus, further polymorphism studies in other cytokine genes are required to gain a comprehensive understanding of the FVIII inhibitor development.

Novel point mutation and intronic mutations of RB1 gene in retinoblastoma patients in Indonesia

Wed, 29 Mar 2023 00:00:00 +0700

BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia.

METHODS This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method.

RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children.

CONCLUSIONS This study found a novel missense mutation in exon 17 of the RB1 gene.

Interferon-gamma release assay and chest X-ray to classify intraocular tuberculosis among clinically undifferentiated uveitis

Wed, 11 Jan 2023 00:00:00 +0700

BACKGROUND Tuberculosis (TB) is a common cause of intraocular inflammation in Indonesia. As no accurate biomarker can confirm the diagnosis, ophthalmologists often rely on systemic findings, such as tuberculin skin test, interferon-gamma release assay (IGRA), and chest X-ray (CXR) for TB suspicion. This study aimed to evaluate IGRA and CXR in classifying intraocular TB among patients with a clinically undifferentiated cause of uveitis.

METHODS This cross-sectional study included 116 patients (a total of 163 affected eyes) with a clinically undifferentiated cause of uveitis. IGRA and CXR were performed as part of the workup. Data on visual acuity, anterior chamber inflammation grade, and anatomical classification of uveitis were recorded. As there were no confirmed ocular tuberculosis (OTB) in our cases, eyes were classified into probable OTB, possible OTB, and unclassified.

RESULTS Overall, 93 patients (80.2%) with a clinically undifferentiated cause of uveitis had positive IGRA, whereas 10 (8.6%) had CXR results suggestive of TB. More than one-third of the patients were blind (visual acuity <3/60), and panuveitis was the commonest anatomical classification. A trend was identified in patients with panuveitis, who often showed ≥2+ cell anterior chamber inflammation (p for trend = 0.023), according to OTB criteria (probable OTB = 3/4, 75.0%; possible OTB = 44/67, 65.7%; unclassified = 2/9, 22.2%). Furthermore, the clinically undifferentiated uveitis cases were eligible to be stratified into probable (8.6%) and possible (75.0%) OTB categories after IGRA and CXR examinations.

CONCLUSIONS The combination of IGRA and CXR is valuable for classifying and diagnosing TB-related uveitis. A multidisciplinary approach is essential when the cause of uveitis is unknown.

Safety of a 2-dose primary series of 13-valent pneumococcal conjugate vaccine in Indonesian infants

Fri, 24 Mar 2023 00:00:00 +0700

BACKGROUND In 2017, the Indonesian Technical Advisory Group on Immunization recommended a safety monitoring demonstration program for the 13-valent pneumococcal conjugate vaccine (PCV13) in West Lombok and East Lombok, West Nusa Tenggara to evaluate the 2-dose primary series (2 and 3 months of age) for serious adverse events (SAEs), adverse events, systemic events, and local reactions.

METHODS A total of 1,083 infants from 10 primary healthcare centers were analyzed, with 687 receiving the first dose and 396 receiving the second dose. Based on the national immunization program, they received PCV13 + DTwP-HB-Hib + OPV (n = 544), PCV13 + DTwP-HB-Hib (n = 101), or PCV13 only (n = 403). They were monitored for 30 min after vaccination for any immediate SAEs, and parents were given a diary card to record safety information prospectively for 28 days.

RESULTS No immediate SAEs were observed, and no SAEs were reported during 28 days after vaccination. Reports of local reactions and systemic events predominated on days 1–3 post-vaccination. Severe fever (axillary temperature >39.0°C) was uncommon (<2% of all infants). Most irritability was mild to moderate. Local pain was more frequent after the first dose than after the second dose. It was distributed evenly across mild, moderate, and severe classifications, while redness and swelling were mostly mild to moderate.

CONCLUSIONS The PCV13 primary series demonstration program in Indonesia confirmed tolerable local and systemic reactions.

Risk factors of limited joint mobility in type 1 diabetic adolescents: a two-center experience in Iraq

Wasnaa Hadi Abdullah, Rihab Faisal Alabedi, Russul Feihan Mussa — Mon, 20 Mar 2023 00:00:00 +0700

BACKGROUND Limited joint mobility (LJM) is the most common joint-related complications in patients with diabetes mellitus (DM) and indicates the presence of microvascular complications. This study aimed to assess the frequency of LJM among adolescents with type 1 DM (T1DM), its risk factors, and the other microangiopathies.

METHODS In this cross-sectional study, 75 patients (adolescents between 10 and 17 years old) with T1DM were assessed for hand joint mobility using a prayer sign test. It was carried out from January 15 to June 1, 2022 in Baghdad city, Iraq. The patients’ height, body mass index, blood pressure, glycated hemoglobin, and low-density lipoprotein (LDL) were recorded. Only 44 subjects were screened for diabetic nephropathy and 64 for diabetic retinopathy based on the eligibility criteria by the American Diabetes Association guidelines.

RESULTS Mean age was 13.60 (1.85) years, with a mean diabetes duration of 5.61 (2.87) years. LJM was found in 18 patients (24%). It was associated with a longer duration of diabetes (p<0.001), high LDL level (p = 0.012), diabetic nephropathy (p = 0.04), and diabetic retinopathy (p<0.001).

CONCLUSIONS The proportion of LJM was high among adolescents with T1DM, especially in those with a long duration of DM. It was associated with high LDL levels and diabetic microangiopathies (nephropathy and retinopathy).

Evaluation of anal cytology and human papillomavirus infection in high-risk women: a cross-sectional study

Thu, 30 Mar 2023 00:00:00 +0700

BACKGROUND Anal cancer incidence has been on the rise over the past few decades. This study aimed to assess anal Papanicolaou (Pap) smear changes in women with high risk for dysplasia and human papillomavirus (HPV) infection.

METHODS This cross-sectional study was conducted on 121 patients referred to the Gynecology Oncology Clinic of Imam Hossein Medical Center between 2020 and 2021 in Tehran, Iran, who had cervical and vulvar dysplasia, cervical HPV infection, and abnormal cervical cytology results and were over 21 years old. Data analysis was performed using SPSS software version 21 (IBM Corp., USA) at a significance level of 0.05.

RESULTS 121 women, with a mean age of 39.69 years, were included in this study. Overall, 23.1% of women had positive anal HPV results, and 35.5% were over 40 years old. Younger age was associated with an increased risk of anal HPV (p = 0.045). 33.9% of women were single and had a higher risk of anal HPV. Multiple sexual partnerships and anal sex were the significant risk factors for anal cancer (p<0.001). Women with positive anal HPV results had significantly more genital warts (p<0.001). No significant difference was observed in smoking, educational level, and cervical Pap smear results between women with negative and positive rectal HPV results.

CONCLUSIONS Younger age at diagnosis, being single, having multiple sexual partnerships, having anal sex, and having genital warts were associated with anal HPV infection in women. Abnormal anal cytology was only associated with being single and having multiple sexual partners.

Surgical techniques to reduce oronasal fistula risk in wide cleft palate repair: a systematic review

Mon, 17 Apr 2023 12:08:24 +0700

BACKGROUND Wide cleft palate is a common congenital anomaly, particularly in developing countries with limited access to plastic surgeons and specialized cleft centers. It can be severe and may contribute to the development of oronasal fistula, which can occur in up to 78% of cases. Despite numerous surgical techniques for wide cleft repair, the best method remains unclear. This study aimed to identify surgical techniques for wide cleft palate repair to minimize the occurrence of oronasal fistula.

METHODS Literature searching was conducted using multiple online databases including PubMed, Scopus, and Cochrane Library. The keywords used were “cleft palate”, ” surgery”, “technique”, “palatoplasty”, and “wide”. Inclusion and exclusion criteria were applied to select relevant studies, and the quality was assessed.

RESULTS A total of 12 studies discussed surgical techniques to repair the primary wide cleft palate and their outcome on oronasal fistula formation. The surgical techniques included modified Furlow palatoplasty, two-flap palatoplasty, and modified Bardach’s two-flap palatoplasty. The incidence of oronasal fistula was 9.6% (n = 28/291) in one-stage Furlow palatoplasty and 12.0% (n = 24/200) in the modified one-stage two-flap palatoplasty.

CONCLUSIONS Two-flap palatoplasty and Furlow palatoplasty (and their modifications) were the safe surgical techniques for wide cleft repair with a low occurrence of oronasal fistula.

Subgingival chlorhexidine irrigation for scaling and root planing adjunctive therapy in chronic periodontitis: a systematic review

Agus Susanto, Nunung Rusminah, Yohana Putri Pertiwi — Fri, 24 Mar 2023 00:00:00 +0700

BACKGROUND Scaling and root planing (SRP) is a conventional treatment for chronic periodontitis; however, it has limitations in treating deep pockets. To enhance its efficacy, chlorhexidine (CHX) is proposed as adjunctive therapy with SRP due to its broad antimicrobial spectrum, low systemic toxic activity in humans, absence of oral microorganism resistance, and lack of teratogenic effects. This study aimed to know the efficacy of the adjunctive therapy of CHX.

METHODS A literature search was conducted using various databases including PubMed, LIVIVO, EBSCOhost, and Google Scholar, following the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines within the last 10 years (2011–2021). Clinical parameters such as plaque index (PI), gingival index (GI), bleeding on probing (BOP), pocket depth (PD), and clinical attachment level (CAL) were recorded. The risk of bias in the selected studies was assessed using Cochrane Collaboration’s Handbook version 5.2.0.

RESULTS Of 368 studies, 10 met the inclusion criteria, with 8 of them having a higher quality. Higher reduction of PI, GI, BI, PD, and CAL were observed in SRP with CHX irrigation compared with SRP alone.

CONCLUSIONS Overall, adding CHX to SRP appeared to have additional clinical benefits compared with SRP alone in the treatment of chronic periodontitis.

Multiple vaginal stones secondary to an ectopic ureter in an adult female patient: a case report

Fri, 10 Mar 2023 00:00:00 +0700

Vaginal stone is a rare case with low incidence. Ectopic ureter insertion into the vagina is one of the congenital abnormalities that may lead to vaginal stone formation. True incontinence persisting until adulthood might indicate an ectopic ureter, often associated with a complete duplex renal system. We reported an adult female that came with a chief complaint of true incontinence since she was young. However, it was left untreated due to limited healthcare facilities in her area and low socioeconomic status. The computed tomography examination revealed a right complete duplex renal system, with upper moiety inserted into the vagina, and multiple vaginal stones. Thus, stone removal and ureteroneocystostomy procedure were performed. No further complaints or complications were recorded after the hospital discharge.

Pancreatoblastoma in previously pancreatic pseudocysts in a 14-year-old female: a case report

Mon, 27 Feb 2023 00:00:00 +0700

Pancreatoblastoma is a rare tumor characterized by uncontrolled growth of pancreatic epithelial cells with a mix of squamous nests and acinar differentiation. Diagnostic modalities include abnormal liver enzyme, pancreatic enzyme, and imaging findings. Treatment options include surgical resection, sometimes combined with chemotherapy, depending on the tumor’s size and grade. We reported a pancreatoblastoma in a 14-year-old female with prior pancreatic pseudocysts. The transformation from pseudocysts to pancreatoblastoma is believed to be caused by the heterozygosity molecular loss on the 11p chromosome and several genetic mutations. Magnetic resonance cholangiopancreatography showed a well-defined, heterogeneous mass in the pancreatic head, with 70% of the mass composed of cysts. A partial pancreatectomy was performed because a complete pancreatectomy may harm the adjacent structures. However, a complete resection combined with chemoradiation may be the best option for long-term survival and complete remission. In this case, she was disease-free until 30 months after the chemotherapy protocol.

Corrigendum: Comparison of ultrasonography and fluoroscopy as guides for extracorporeal shock wave lithotripsy in nephrolithiasis patients: a systematic review

Tue, 18 Apr 2023 00:00:00 +0700

[This corrects the article DOI: 10.13181/mji.oa.226140]

Acknowledgment of Reviewers

Tue, 18 Apr 2023 00:00:00 +0700

Front & Back Matter

Tue, 18 Apr 2023 00:00:00 +0700