Tran Danh Cuong, Nguyen Phuong Ngoc, T. Anh, Le Thi Lan Phuong, Dang Anh Linh, Ngo Toan Anh, Nguyen Thi Bich Van, Dinh Thi Ngoc Mai, Do Duc Huy, N. Trang
BACKGROUND Αlpha (α)-thalassemia is a global health concern, and improving screening methods is crucial for disease prevention. This study aimed to assess α-thalassemia genotypes and evaluate the effectiveness of various thresholds for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in prenatal screening for α-thalassemia. METHODS This cross-sectional study included pregnant women and their husbands who underwent prenatal screening for thalassemia at the National Hospital of Obstetrics and Gynecology, Vietnam from January 2012 to August 2021. Blood samples were collected and analyzed using the strip assay technique, which can detect 21 common mutations in the α-globin gene and 22 common mutations in the beta-globin gene. RESULTS Of the 12,030 participants, 931 were identified as having α-thalassemia, with --SEA, -α3.7, and -α4.2 being the most common mutations. When examining different thresholds of MCV and MCH, MCV <85 fL and MCH <28 pg had a lower missing rate than MCV <80 fL and MCH <27 pg, respectively. MCH <28 pg showed the highest sensitivity in screening for α-thalassemia. MCV <85 fL showed the lowest positive predictive value (PPV). The combination of MCV <80 fL and MCH <27 pg showed the lowest sensitivity in screening for α-thalassemia but the highest PPV among all thresholds. CONCLUSIONS Optimizing the screening methods for α-thalassemia is important for preventing and managing the disease in the community. These findings have important implications for thalassemia prevention and management programs and may contribute to reducing the burden of thalassemia in the global population.
{"title":"Αlpha-thalassemia genotypes in Vietnam: a report of 12,030 pregnant women and their husbands performing prenatal screening for alpha-thalassemia","authors":"Tran Danh Cuong, Nguyen Phuong Ngoc, T. Anh, Le Thi Lan Phuong, Dang Anh Linh, Ngo Toan Anh, Nguyen Thi Bich Van, Dinh Thi Ngoc Mai, Do Duc Huy, N. Trang","doi":"10.13181/mji.oa.236635","DOIUrl":"https://doi.org/10.13181/mji.oa.236635","url":null,"abstract":"BACKGROUND Αlpha (α)-thalassemia is a global health concern, and improving screening methods is crucial for disease prevention. This study aimed to assess α-thalassemia genotypes and evaluate the effectiveness of various thresholds for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in prenatal screening for α-thalassemia. \u0000METHODS This cross-sectional study included pregnant women and their husbands who underwent prenatal screening for thalassemia at the National Hospital of Obstetrics and Gynecology, Vietnam from January 2012 to August 2021. Blood samples were collected and analyzed using the strip assay technique, which can detect 21 common mutations in the α-globin gene and 22 common mutations in the beta-globin gene. \u0000RESULTS Of the 12,030 participants, 931 were identified as having α-thalassemia, with --SEA, -α3.7, and -α4.2 being the most common mutations. When examining different thresholds of MCV and MCH, MCV <85 fL and MCH <28 pg had a lower missing rate than MCV <80 fL and MCH <27 pg, respectively. MCH <28 pg showed the highest sensitivity in screening for α-thalassemia. MCV <85 fL showed the lowest positive predictive value (PPV). The combination of MCV <80 fL and MCH <27 pg showed the lowest sensitivity in screening for α-thalassemia but the highest PPV among all thresholds. \u0000CONCLUSIONS Optimizing the screening methods for α-thalassemia is important for preventing and managing the disease in the community. These findings have important implications for thalassemia prevention and management programs and may contribute to reducing the burden of thalassemia in the global population.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48687729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Yuliarti, M. Mansyur, I. Timan, Y. Ariani, Ernawati, I. G. L. Sidhiarta, Nadhifa Tazkia Ramadhani, N. Prakoso, D. Sjarif
BACKGROUND Genomic medicine has great potential for diagnoses, disease prediction, and targeted treatment. Buccal swabs are a suitable non-invasive method for neonates to obtain DNA samples. Due to Indonesia's geographical conditions, samples require a prolonged time to reach the genetic laboratory. This study aimed to compare the DNA quality of buccal swabs in neonates between immediate and after-storage extraction. METHODS This study was part of a study about the profile of human milk oligosaccharide and FUT2 genotype in Indonesian mother-infant dyads consisting of 20 neonates. 1 swab stick for each participant was taken using a standardized buccal swabbing protocol and divided into 2 isovolume aliquots, which were grouped into the immediate (extraction was performed within 3 days after sampling) and storage groups (extraction was performed on the 14th day after storage in 4°C). DNA yield and purity A260/280 ratio were measured by spectrophotometry. The PCR amplification and Sanger sequencing were performed to validate the DNA isolate quality for downstream application. RESULTS The DNA yield for the immediate group was similar compared with the storage group (9.50 [4.89] versus 9.10 [5.05] µg), p = 0.659, as well as DNA purity A260/280 (1.58 [0.24] versus 1.56 [0.28]), p = 0.785. PCR and sequencing of FUT2 results also showed similar quality between both groups. CONCLUSIONS The similar DNA quality and sequencing results between immediate and storage extraction confirmed that buccal swabs could be stored for 2 weeks, allowing ample time for sample shipping from remote areas to the laboratory.
{"title":"DNA quality from buccal swabs in neonates: comparison of different storage time","authors":"K. Yuliarti, M. Mansyur, I. Timan, Y. Ariani, Ernawati, I. G. L. Sidhiarta, Nadhifa Tazkia Ramadhani, N. Prakoso, D. Sjarif","doi":"10.13181/mji.oa.236899","DOIUrl":"https://doi.org/10.13181/mji.oa.236899","url":null,"abstract":"BACKGROUND Genomic medicine has great potential for diagnoses, disease prediction, and targeted treatment. Buccal swabs are a suitable non-invasive method for neonates to obtain DNA samples. Due to Indonesia's geographical conditions, samples require a prolonged time to reach the genetic laboratory. This study aimed to compare the DNA quality of buccal swabs in neonates between immediate and after-storage extraction. \u0000METHODS This study was part of a study about the profile of human milk oligosaccharide and FUT2 genotype in Indonesian mother-infant dyads consisting of 20 neonates. 1 swab stick for each participant was taken using a standardized buccal swabbing protocol and divided into 2 isovolume aliquots, which were grouped into the immediate (extraction was performed within 3 days after sampling) and storage groups (extraction was performed on the 14th day after storage in 4°C). DNA yield and purity A260/280 ratio were measured by spectrophotometry. The PCR amplification and Sanger sequencing were performed to validate the DNA isolate quality for downstream application. \u0000RESULTS The DNA yield for the immediate group was similar compared with the storage group (9.50 [4.89] versus 9.10 [5.05] µg), p = 0.659, as well as DNA purity A260/280 (1.58 [0.24] versus 1.56 [0.28]), p = 0.785. PCR and sequencing of FUT2 results also showed similar quality between both groups. \u0000CONCLUSIONS The similar DNA quality and sequencing results between immediate and storage extraction confirmed that buccal swabs could be stored for 2 weeks, allowing ample time for sample shipping from remote areas to the laboratory.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42916731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pryambodho¹ Adhrie Sugiarto¹, Meilina Imelda¹, Dita Aditianingsih¹, D. Aditianingsih
BACKGROUND Severe COVID-19 patients may become critically ill and require treatment in the intensive care unit (ICU). As intensive care resources are limited, mortality predictors should be used to guide resource allocation. This study aimed to validate the Charlson comorbidity index (CCI) as the mortality predictor of critical COVID-19 patients in the ICU. METHODS A retrospective cohort study was done in adult patients admitted to the ICU with severe COVID-19 at Cipto Mangunkusumo Hospital and Universitas Indonesia Hospital from March to August 2020. We extracted the subject’s CCI score from the medical records and the 28-day mortality after ICU admission. The CCI score was validated by the Hosmer–Lemeshow calibration test, determination of area under the curve (AUC), and optimal cut-off point for the critical patients in the ICU. We used the chi-square test to examine the association of comorbidities with mortality. RESULTS Mortality was higher in CCI scores >4 (odds ratio [OR]: 8.83; 95% confidence interval [CI] = 1.81–43.01). The CCI score had moderate discrimination ability (AUC 76.1%; 95% CI = 0.661–0.881). Chronic kidney disease (CKD) (OR: 18.00, 95% CI = 2.19–147.51), congestive heart failure (CHF) (OR: 4.25, 95% CI = 1.23–14.75), and uncontrolled diabetes mellitus (DM) (OR: 18.429, 95% CI = 2.19–155.21) increased the risk of 28-day mortality. CONCLUSIONS The CCI score could predict the 28-day mortality of critical COVID-19 patients. The coexistence of CKD, CHF, DM, peripheral vascular disease, and peptic ulcer in COVID-19 patients should be considered for patient management.
{"title":"Charlson comorbidity index to predict 28-day mortality in critically ill COVID-19 patients","authors":"Pryambodho¹ Adhrie Sugiarto¹, Meilina Imelda¹, Dita Aditianingsih¹, D. Aditianingsih","doi":"10.13181/mji.oa.236070","DOIUrl":"https://doi.org/10.13181/mji.oa.236070","url":null,"abstract":"BACKGROUND Severe COVID-19 patients may become critically ill and require treatment in the intensive care unit (ICU). As intensive care resources are limited, mortality predictors should be used to guide resource allocation. This study aimed to validate the Charlson comorbidity index (CCI) as the mortality predictor of critical COVID-19 patients in the ICU. \u0000METHODS A retrospective cohort study was done in adult patients admitted to the ICU with severe COVID-19 at Cipto Mangunkusumo Hospital and Universitas Indonesia Hospital from March to August 2020. We extracted the subject’s CCI score from the medical records and the 28-day mortality after ICU admission. The CCI score was validated by the Hosmer–Lemeshow calibration test, determination of area under the curve (AUC), and optimal cut-off point for the critical patients in the ICU. We used the chi-square test to examine the association of comorbidities with mortality. \u0000RESULTS Mortality was higher in CCI scores >4 (odds ratio [OR]: 8.83; 95% confidence interval [CI] = 1.81–43.01). The CCI score had moderate discrimination ability (AUC 76.1%; 95% CI = 0.661–0.881). Chronic kidney disease (CKD) (OR: 18.00, 95% CI = 2.19–147.51), congestive heart failure (CHF) (OR: 4.25, 95% CI = 1.23–14.75), and uncontrolled diabetes mellitus (DM) (OR: 18.429, 95% CI = 2.19–155.21) increased the risk of 28-day mortality. \u0000CONCLUSIONS The CCI score could predict the 28-day mortality of critical COVID-19 patients. The coexistence of CKD, CHF, DM, peripheral vascular disease, and peptic ulcer in COVID-19 patients should be considered for patient management.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45454170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BACKGROUND Nasal silicone injections have been a common procedure among Asians. However, this procedure can lead to severe complications. Unfortunately, there are limited data available on the distortive characteristics of nasal siliconoma in the Asian population. This study aimed to provide objective data on the distortive characteristics of nasal siliconoma to be a reference for a treatment outcome. METHODS This cross-sectional study was conducted at Cipto Mangunkusumo Hospital from June 2017 to March 2018. The study included 30 Asian females with nasal siliconoma, and nasal photogrammetric measurements were taken using a portable mirror stand device and analyzed to formulate the distortive characteristics. RESULTS The mean (standard deviation) of intercanthal width was 3.33 (0.25) cm, nasal root width was 2.70 (0.30) cm, alar width was 4.48 (0.31) cm, two tip-defining points (TDP) distance was 2.09 (0.22) cm, nasofrontal angle was 141.10 (8.40)°, length of the nose was 3.10 (0.48) cm, nasofacial angle was 32.94 (4.51)°, nasion projection was 0.64 (0.36) cm, pronasion projection was 2.00 (0.25–2.46) cm, tip angle was 122.7 (4.52)°, nasolabial angle was 78.81 (15.93)°, columella length (n = 20) was 0.64 (0.20) cm, tip lobular portion length was 1.12 (0.20) cm, the extend of extended columella was 0.47 (0.31) cm, and base of the nasal width was 3.98 (0.25) cm. CONCLUSIONS Nasal siliconoma in Asians had certain characteristics such as a wider nasal root, wider two TDP distance, wider nasion projection, acute nasolabial angle, hanging columella, and a long lobular portion of the tip.
{"title":"Photogrammetrics and clinical features of nasal siliconoma in Asians","authors":"Krista Ekaputri, T. Prasetyono","doi":"10.13181/mji.oa.236273","DOIUrl":"https://doi.org/10.13181/mji.oa.236273","url":null,"abstract":"BACKGROUND Nasal silicone injections have been a common procedure among Asians. However, this procedure can lead to severe complications. Unfortunately, there are limited data available on the distortive characteristics of nasal siliconoma in the Asian population. This study aimed to provide objective data on the distortive characteristics of nasal siliconoma to be a reference for a treatment outcome. \u0000METHODS This cross-sectional study was conducted at Cipto Mangunkusumo Hospital from June 2017 to March 2018. The study included 30 Asian females with nasal siliconoma, and nasal photogrammetric measurements were taken using a portable mirror stand device and analyzed to formulate the distortive characteristics. \u0000RESULTS The mean (standard deviation) of intercanthal width was 3.33 (0.25) cm, nasal root width was 2.70 (0.30) cm, alar width was 4.48 (0.31) cm, two tip-defining points (TDP) distance was 2.09 (0.22) cm, nasofrontal angle was 141.10 (8.40)°, length of the nose was 3.10 (0.48) cm, nasofacial angle was 32.94 (4.51)°, nasion projection was 0.64 (0.36) cm, pronasion projection was 2.00 (0.25–2.46) cm, tip angle was 122.7 (4.52)°, nasolabial angle was 78.81 (15.93)°, columella length (n = 20) was 0.64 (0.20) cm, tip lobular portion length was 1.12 (0.20) cm, the extend of extended columella was 0.47 (0.31) cm, and base of the nasal width was 3.98 (0.25) cm. \u0000CONCLUSIONS Nasal siliconoma in Asians had certain characteristics such as a wider nasal root, wider two TDP distance, wider nasion projection, acute nasolabial angle, hanging columella, and a long lobular portion of the tip.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48052970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BACKGROUND Neurogenic lower urinary tract dysfunction (NLUTD) is an abnormal function of the bladder, urethra (and/or prostate in males) in patients with a clinically confirmed relevant neurologic disorder. Hence, accurate diagnosis and management of NLUTD is crucial. This study aimed to recognize the characteristics of NLUTD to identify, manage, and prevent the associated complications. METHODS This retrospective study was conducted at the Outpatient Clinic of the Department of Urology, Cipto Mangunkusumo Hospital, Jakarta, Indonesia, from January 2011 to December 2021. The study analyzed data collected from voiding dysfunction patients with upper motor neurological disorders who underwent urodynamic studies during the study period. Incomplete data in the medical records were excluded. RESULTS Mean age of the participants was 50.7 (18–95) years old. The most common cause of NLUTD was stroke (26.6%), followed by unspecified groups and spinal cord injury. Patients under 20 years old were affected by trauma and congenital defects. Of the patients, 34.0% had urinary retention, and 18.1% had incontinence. Small bladder capacity occurred in patients with stroke, Parkinson’s disease, and spinal/cerebral tumors, leading to decreased bladder compliance. CONCLUSIONS NLUTD was associated with aging, with upper motor neurological lesions such as trauma, stroke, and spinal/cerebral injury being the most common etiologies. Most patients with NLUTD had small bladder capacity and decreased compliance based on urodynamic result.
{"title":"Characteristics of neurogenic lower urinary tract dysfunction patients at Cipto Mangunkusumo Hospital","authors":"Fina Widia, M. Indraswari, H. Rahardjo","doi":"10.13181/mji.oa.236605","DOIUrl":"https://doi.org/10.13181/mji.oa.236605","url":null,"abstract":"BACKGROUND Neurogenic lower urinary tract dysfunction (NLUTD) is an abnormal function of the bladder, urethra (and/or prostate in males) in patients with a clinically confirmed relevant neurologic disorder. Hence, accurate diagnosis and management of NLUTD is crucial. This study aimed to recognize the characteristics of NLUTD to identify, manage, and prevent the associated complications. \u0000METHODS This retrospective study was conducted at the Outpatient Clinic of the Department of Urology, Cipto Mangunkusumo Hospital, Jakarta, Indonesia, from January 2011 to December 2021. The study analyzed data collected from voiding dysfunction patients with upper motor neurological disorders who underwent urodynamic studies during the study period. Incomplete data in the medical records were excluded. \u0000RESULTS Mean age of the participants was 50.7 (18–95) years old. The most common cause of NLUTD was stroke (26.6%), followed by unspecified groups and spinal cord injury. Patients under 20 years old were affected by trauma and congenital defects. Of the patients, 34.0% had urinary retention, and 18.1% had incontinence. Small bladder capacity occurred in patients with stroke, Parkinson’s disease, and spinal/cerebral tumors, leading to decreased bladder compliance. \u0000CONCLUSIONS NLUTD was associated with aging, with upper motor neurological lesions such as trauma, stroke, and spinal/cerebral injury being the most common etiologies. Most patients with NLUTD had small bladder capacity and decreased compliance based on urodynamic result.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45611675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Duarsa, Christian Nurtanto Putra, Kevin Ivandi, Kadek Adit Wiryadana, P. Tirtayasa, Firman Pribadi
[This corrects the article DOI: 10.13181/mji.oa.226140]
[这更正了文章DOI:10.13181/mji.oa.226140]
{"title":"Corrigendum: Comparison of ultrasonography and fluoroscopy as guides for extracorporeal shock wave lithotripsy in nephrolithiasis patients: a systematic review","authors":"G. Duarsa, Christian Nurtanto Putra, Kevin Ivandi, Kadek Adit Wiryadana, P. Tirtayasa, Firman Pribadi","doi":"10.13181/mji.cg.236928","DOIUrl":"https://doi.org/10.13181/mji.cg.236928","url":null,"abstract":"[This corrects the article DOI: 10.13181/mji.oa.226140]","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42115516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Kreshanti, P. M. Sadikin, Margareth Ingrid Anggraeni, J. A. Wibowo, K. Bangun
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.
{"title":"Surgical techniques to reduce oronasal fistula risk in wide cleft palate repair: a systematic review","authors":"P. Kreshanti, P. M. Sadikin, Margareth Ingrid Anggraeni, J. A. Wibowo, K. Bangun","doi":"10.13181/mji.oa.236347","DOIUrl":"https://doi.org/10.13181/mji.oa.236347","url":null,"abstract":"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. \u0000METHODS 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. \u0000RESULTS 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. \u0000CONCLUSIONS 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.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41516460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Short stature and stunting in Indonesia: problems and innovative alternative solutions","authors":"Agustini Hamid","doi":"10.13181/mji.ed.236924","DOIUrl":"https://doi.org/10.13181/mji.ed.236924","url":null,"abstract":"[No abstract available]","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45149033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Ashrafganjoei, Maryam Sadat Hosseini, Zanbagh Pirastehfar, F. Farzaneh, M. Arab, Noushin Afshar Moghaddam, A. Javadi, A. Y. Joybari
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.
{"title":"Evaluation of anal cytology and human papillomavirus infection in high-risk women: a cross-sectional study","authors":"T. Ashrafganjoei, Maryam Sadat Hosseini, Zanbagh Pirastehfar, F. Farzaneh, M. Arab, Noushin Afshar Moghaddam, A. Javadi, A. Y. Joybari","doi":"10.13181/mji.oa.236375","DOIUrl":"https://doi.org/10.13181/mji.oa.236375","url":null,"abstract":"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. \u0000METHODS 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. \u0000RESULTS 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. \u0000CONCLUSIONS 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.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":"1 1","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41491498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Umar, Ulfah Rimayanti, Halimah Pagarra, Budu, N. Massi, H. Muhiddin
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.
{"title":"Novel point mutation and intronic mutations of RB1 gene in retinoblastoma patients in Indonesia","authors":"B. Umar, Ulfah Rimayanti, Halimah Pagarra, Budu, N. Massi, H. Muhiddin","doi":"10.13181/mji.oa.236544","DOIUrl":"https://doi.org/10.13181/mji.oa.236544","url":null,"abstract":"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. \u0000METHODS 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. \u0000RESULTS 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. \u0000CONCLUSIONS This study found a novel missense mutation in exon 17 of the RB1 gene.","PeriodicalId":18302,"journal":{"name":"Medical Journal of Indonesia","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46471642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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