eJournal Kedokteran Indonesia

The Osteogenesis Imperfecta: Bridging Genetic Insights with Clinical Signs– A Rare Case Report

Udi Herunefi Hancoro — 2025-12-31

Osteogenesis Imperfecta (OI) is a rare genetic disorder affecting collagen production, leading to bone fragility and fractures. This case report aims to highlight the challenges and advancements in managing this condition. This report presents a rare case of a 13-year-old boy with OI, who experienced multiple fractures from minimal trauma, leading to mobility challenges. The patient first presented to Dr. Moewardi General Hospital, Surakarta, in June 2021, seeking evaluation for multiple bone fractures and mobility issues. Despite the absence of typical blue sclerae, the patient exhibited other OI symptoms such as dental growth disorders and a history of nine bone surgeries. Physical examination revealed bowing of the right lower limb and abnormal gait, while radiological findings confirmed bone deformities and fractures. OI results from mutations in the COL1A1 and COL1A2 genes, which are crucial for type I collagen synthesis. These genetic mutations lead to reduced bone density and increased fracture susceptibility. While clinical presentations vary, this patient did not exhibit blue sclerae or hearing loss. Diagnosis involves clinical and radiographic assessments, with bisphosphonates used for managing symptoms. OI remains a rare genetic disorder due to infrequent mutations in collagen-related genes. While bisphosphonates provide symptomatic relief, they do not cure the disease, highlighting the need for further research into treatments targeting the genetic etiology of OI.

Regulasi Autonom Berbasis Nervus Vagus dalam Mempengaruhi Fungsi Jantung, Inflamasi dan Kualitas Hidup Gagal Jantung

Bima Diokta Alparisi — 2025-12-31

Gagal jantung dapat disebabkan oleh disregulasi saraf autonom yang berkontribusi terhadap remodelling ventrikel. Penelitian ini bertujuan untuk menganalisis dan membuktikan secara statistik pemanfaatan regulasi autonom berbasis nervus vagus dalam mempengaruhi fungsi jantung, inflamasi dan kualitas hidup yang dapat dimanfaatkan sebagai terapi alternatif non-farmakologi gagal jantung. Karya ini dibuat berdasarkan pedoman PRISMA lalu disesuaikan dengan kriteria inklusi dan eksklusi sesuai serta kerangka PICO. Penilaian risiko bias melalui risk of bias tool 2.0 (RoB 2.0) dan analisis statistik melalui RevMan 5.4. Didapatkan 7 artikel RCT dengan total subyek 1028 orang. Hasil dari meta analisis didapatkan metode ini bermakna signifikan pada komponen fungsi jantung yaitu LVESV (p=0.04), global longitudinal (p=0.0002) dan global sirkumstansial (p = 0.002); inflamasi IL-8 (p<0.00001) dan TNF- (p=0.0001); kualitas hidup skor MLHFQ (p=0.006) dan NYHA (p=0.02). Namun tidak signifikan pada komponen gagal jantung denyut jantung (p=0.41), tekanan darah sistol (p=0.73) dan diastol (p=0.35), BNP (p=0.47), LVEF (p=0.59), LVEDV (p=0.92), e’ (p=0.11), E/A (p=0.74); efek samping (p=0.72) dan penurunan mortalitas (p=0.32). Dengan demikian, pemanfaatan metode tersebut dapat berpengaruh terhadap beberapa komponen fungsi jantung, inflamasi dan kualitas hidup.

Pain Management in Elderly with Herniated Disc: Exploring NSAID Options for Non-Surgical Treatment

Alfath Bagus Pratama — 2025-12-31

As global populations age, the demand for orthopedic surgery continues to rise, with low back pain (LBP)—particularly due to herniated nucleus pulposus (HNP)—being one of the most common reasons for consultation and surgical intervention. However, surgical decisions in elderly patients are often complex due to clinical risks and comorbidities. This review examines the role of pharmacologic therapy as a first-line conservative treatment for HNP in older adults, focusing on the efficacy and safety of nonsteroidal anti-inflammatory drugs (NSAIDs), analgesics, opioids, antidepressants, anticonvulsants, and corticosteroid injections. NSAIDs such as ibuprofen, diclofenac, and etodolac are effective but pose risks of gastrointestinal, cardiovascular, and renal complications. Alternatives like paracetamol and metamizole offer better gastrointestinal tolerance, while tramadol is a preferred opioid because it carries a lower risk of dependence. Non-pharmacologic interventions—including physical therapy, acupuncture, moxibustion, and minimally invasive procedures like ozone chemonucleolysis—are also discussed as valuable adjuncts. While conservative management often results in significant symptom relief, prolonged reliance without timely surgical evaluation may lead to suboptimal outcomes. Therefore, a personalized, evidence-based approach that carefully balances risks and benefits is essential for optimizing outcomes and minimizing adverse effects in elderly patients with HNP.

Linking the Life Cycle of Sarcoptes scabiei to Diagnosis, Treatment, and Control

Saleha Sungkar — 2025-12-31

Scabies is a neglected tropical disease caused by the mite Sarcoptes scabiei, with an annual incidence of 455 million cases. Despite its significant global burden, it remains underdiagnosed and undertreated, largely due to insufficient consideration of the parasite’s biological behavior. The mite’s life cycle, comprising egg, larval, nymph, and adult stages, plays a pivotal role in determining the success or failure of diagnostic and treatment strategies. Many conventional treatments do not effectively target all life stages, especially the egg stage, resulting in incomplete treatment and frequent reinfection. This literature review aims to critically examine the life cycle of S. scabiei and analyze how each developmental stage can inform more effective diagnostic, therapeutic, and public health responses. Understanding how the biology of the mite intersects with the timing and sensitivity of clinical interventions is essential for optimizing outcomes, highlighting the need for repeat treatments and the development of ovicidal agents or vaccines. By integrating insights from parasitology, immunology, and epidemiology, this review advocates for a multidisciplinary, life cycle–based framework to enhance early detection, improve treatment efficacy, and support sustainable control measures. When aligned with mass drug administration, hygiene promotion, and health education initiatives, such an approach offers synergistic potential to break transmission cycles and manage outbreaks more effectively. Advancing global scabies control will ultimately depend on embedding life cycle–informed strategies into both clinical practice and public health programs.

Return to Work in Post-Revascularization Patients with Acute Coronary Syndrome Undergoing Phase II Cardiac Rehabilitation

Tresia Fransiska Ulianna Tambunan — 2025-12-31

Returning to work is an essential indicator of functional and psychosocial recovery in post-revascularization patients with acute coronary syndrome (ACS). Participation in Phase II cardiac rehabilitation (CR) is believed to facilitate this process through structured exercise, education, and psychological support. This study aimed to evaluate the effect of Phase II CR on return-to-work outcomes among post-revascularization ACS patients. An evidence-based case report was conducted through a systematic search of PubMed, Scopus, ProQuest, ScienceDirect, and SpringerLink databases from 2013 to 2023. Eligible studies included randomized controlled trials, cohort studies, and systematic reviews that assessed return-to-work outcomes in patients undergoing coronary artery bypass grafting or percutaneous coronary intervention who participated in Phase II CR. Articles not available in full text, published before 2013, or unrelated to return-to-work outcomes were excluded. Three studies met the inclusion criteria: two systematic reviews and one prospective cohort study encompassing approximately 68,000 patients. All reported that CR participation improved physical function, quality of life, and the likelihood of returning to work. The average time to return ranged from 9 to 32 weeks, with higher rates among younger males with white-collar occupations and preserved ejection fraction. Phase II CR significantly enhances recovery and expedites return to work, underscoring its essential role in post-ACS care.

Correlation of hematological profiles and parasite density of malaria patients from low endemic areas in North Sulawesi, Indonesia

Evy Beatrix Senduk — 2025-12-31

North Sulawesi province is an area with low malaria endemicity. Variations in hematological profiles of malaria patients can serve as indicators for malaria diagnosis. This study aimed to determine correlation of hematological profile and parasite density of malaria patients. The cross-sectional study utilized medical record data from Kandou Hospital, Budi Mulia Hospital, and Tuda Hospital in North Sulawesi Province. The study was conducted from October 2022 to June 2023. In the current study, a total of 65 patient medical records were analyzed. Among them, 28 patients (43.1%) were infected with Plasmodium falciparum, and 37 patients (56.9%) were infected with P. vivax, with 20% of cases belonged to age group of <12 years. Hematological profiles showed moderate to severe thrombocytopenia in falciparum malaria cases and mild to severe thrombocytopenia in vivax malaria cases, while normal leukocyte count was observed in the majority of cases in both groups. Sex (p=0.014) and thrombocytopenia (p=0.034) showed a statistically significant association with malaria infections in this study. Anemia, thrombocytopenia and leukocyte counts did not show a statistically significant association with the degree of parasitemia in patients with falciparum and vivax malaria (r <0.40; p >0.05). The results of current study can be used as additional predictive variables for patients suspected of having malaria in similar populations.

Open Disclosure Practices of Patient Safety Incidents in Indonesian Hospitals

Inge Dhamanti — 2025-12-31

Open disclosure of patient safety incidents in Indonesian hospitals is essential to improve transparency, foster trust, and enhance the quality of healthcare services. This study aims to analyze attitudes and barriers to the open disclosure of patient safety incidents in Indonesian hospitals. A descriptive quantitative research method was applied, involving 265 healthcare workers with at least 1 year of hospital experience at an Indonesian Hospital. Data collection was conducted via an online questionnaire over 2 weeks, recruited through convenience sampling, and analyzed descriptively. The findings reveal that most respondents believe that patients should be informed about safety incidents that affect them. Additionally, the majority of respondents agreed that ethically disclosing patient safety incidents is very important. However, the study results also indicate barriers to open disclosure, as many respondents believe that only serious patient safety incidents should be disclosed to patients. This perception is primarily driven by fears of losing their reputation, fear of penalties, and the belief that open disclosure may increase the risk of lawsuits. The results highlight the need for goverments' policies to address the identified barriers and to support the implementation of open disclosure in hospitals by strengthening institutional support and providing training programs to enhance patient safety culture in Indonesia.

Effect of Hydroxychloroquine Therapy on Hematology and Ocular of Systemic Lupus Erythematosus Patients

Muhsin Muhsin — 2025-12-31

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that mainly affects women and has various clinical manifestations involving multiple organs. The use of hydroxychloroquine (HCQ) provides some advantages. This study aimed to analyze hematological and ocular effects after short-term administration of HCQ in SLE patients. This cross-sectional study analyzed adult SLE patients at Zainoel Abidin Hospital, Banda Aceh, Indonesia. Blood laboratory parameters were analyzed, and ocular examinations were carried out by an ophthalmologist. As many as 23 patients, all of whom were women, were analyzed. The study showed an average hemoglobin of 11.6 g/dL. Other blood laboratory results were within normal limits. The mean duration of SLE diagnosis and HCQ use was 21.0 months and 9.7 months, respectively. There was no correlation between the duration of HCQ use with hematological parameters or ocular disorders. This study showed that only a small proportion of SLE patients taking HCQ for less than 5 years had ocular problems. The prevalence of ocular and hematological effects in SLE patients treated with HCQ under 5 years is minimal. There is no relationship between ocular and hematological disorders with the duration of HCQ therapy.

Urethral Mobility Ultrasound: A Comparable Diagnostic Method for Urethral Hypermobility in Indonesian Women with Stress Urinary

Gita Nurul Hidayah — 2025-12-31

Urethral hypermobility is the primary mechanism of stress urinary incontinence. In Indonesia, the prevalence of SUI (stress urinary incontinence) is approximately 13% (the other 16% had mixed urinary incontinence). To diagnose urethral hypermobility, the Q-tip test is performed, but it can provoke discomfort. Urethral mobility ultrasonography (UMU) has emerged as a non-invasive, more comfortable alternative, with high accuracy. This study reports the concordance of the evaluations in Indonesian women with SUI, to evaluate the accuracy of UMU compared with the Q-tip test in diagnosing urethral hypermobility among Indonesian women with SUI. A cross-sectional study was conducted at the outpatient clinic of RSUPN Dr Cipto Mangunkusumo and at the Jakarta Urogynecology (JUN) Centre-YPK Mandiri Hospital during the January – December 2024 period. Thirty-six SUI women without symptomatic pelvic organ prolapse (POP) completed the study. Each subject underwent a Q-tip test and ultrasonographic evaluation of urethral mobility. Ultrasonographic assessment of urethral mobility demonstrated high sensitivity (92.6%) but low specificity (33.3%) compared to the Q-tip test. The positive predictive value (PPV) of UMU was 80.6%, while the negative predictive value (NPV) was 60%. The concordance value was 77.8%. 16.67% of patients reported discomfort and pain during the Q-tip test and required medication to manage their symptoms. In those women, the Qtip test was negative but may reflect bias/false negatives, which can affect ultrasound specificity. With 80.6% PPV, 60% NPV, and 77.8% concordance, UMU may serve as a practical alternative to the Q-tip test in daily clinical practice.

Association Of Dyslipidemia With Severity Of Meibomian Gland Dysfunction And Type Of Dry Eye Disease

Rofiqi Rofiq — 2025-12-31

Meibomian gland is physiologically involved in lipid secretion, thus abnormality of systemic lipid level is possibly related to meibomian gland lipid. Increased cholesterol level, mainly cholesterol ester, in secretion of meibomian gland is associated with pathology of MGD. This is the first population-based study assessing association of dyslipidemia with MGD and DED. This was a cross-sectional population-based study using consecutive sampling. Data was taken from database of Smart Health Study conducted in Mendalanwangi, Sidorahayu, and Cepokomulyo Village, Malang. There were 867 subjects aged ≥ 40 years old with risk of MGD. Assessment of DED (OSDI score, TBUT, TM, and MGD) and dyslipidemia (level of TG and HDL) were performed. Majority of subjects were female with no DED or dyslipidemia. Most respondents had MGD grade 1. Patients with dyslipidemia had 1.4-fold risk for evaporative dry eye (EDE) compared to patients with normal lipid level [OR 1.417 (95% CI : 1.0-2.070)]. Patients with MGD had lower risk of aqueous deficiency dry eye (ADDE) [OR 0.160 (95% CI: 0.699 – 0.366)]. There was no significant association between dyslipidemia and MGD and DED. Patients with dyslipidemia had 1.4-fold risk of EDE compared to patients with normal lipid level.

Implementasi Optimalisasi Strategi Pelayanan Stroke Hiperakut Berbasis Wilayah sebagai Perwujudan Keadilan Sosial dalam Menekan Angka Kecacatan dan Kematian di Indonesia

Rakhmad Hidayat — 2025-12-31