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"Latar Belakang. Miastenia gravis (MG) adalah penyakit autoimun kronis yang bermanifestasi sebagai kelemahan otot di berbagai lokasi dengan insiden yang meningkat sejak beberapa dekade terakhir. Kualitas hidup merupakan aspek yang perlu dinilai dalam penatalaksanaan MG. Berbagai faktor telah diketahui berpengaruh terhadap kualitas hidup pasien MG, tetapi saat ini di Indonesia belum ada studi yang meneliti gambaran kualitas hidup pasien MG. Studi ini bertujuan untuk mengetahui gambaran secara umum kualitas hidup pasien MG serta faktor-faktor yang memengaruhinya di RSUPN Cipto Mangunkusumo, DKI Jakarta yang merupakan rumah sakit rujukan nasional.Metode. Studi potong lintang dilakukan di RSUPN Cipto Mangunkusumo, DKI Jakarta pada bulan Februari hingga April 2023. Pasien yang telah didiagnosis miastenia gravis dan mendapatkan terapi baik terapi simtomatik maupun imunospresan minimal 6 bulan direkrut ke dalam penelitian. Subjek dilakukan wawancara menggunakan kuisioner dan pencatatan data rekam medik sesuai variabel yang diteliti. Analisis bivariat dan multivariat dilakukan untuk menguji hubungan antara variabel bebas dan variabel terikat.Hasil. Sebanyak 80 subjek memenuhi kriteria inklusi penelitian. Rerata usia subjek adalah 44,73 ± 13,09 tahun. Mayoritas subjek adalah perempuan (68,8%), sudah menikah (65%), memiliki riwayat pendidikan menengah (42,5%), pekerjaan blue collar (76,2%), dan tidak latihan fisik (73,8%). Median IMT subjek adalah 24,86 kg/m2 (16,77–128,57 kg/m2). Median durasi penyakit subjek adalah 60 bulan (9–504 bulan). Rerata usia saat terdiagnosis adalah 38,73 ± 14,24 tahun. Mayoritas subjek memiliki awitan gejala EOMG (73,8%), gejala MG generalisata (72,5%). Sebanyak 38,8% pasien memiliki riwayat timoma. Dari 31 subjek dengan timoma, 83,9% subjek dilakukan timektomi. Kebanyakan subjek tidak diperiksakan status antibodinya (63,8%). Sebanyak 37,5% subjek memiliki status MGFA normal dan median MGCS 1,59 (0–13). Mayoritas subjek memiliki gejala yang stabil (78,7%) dan mendapatkan azathioprine (50%). Sebanyak 33,8% subjek menggunakan steroid dengan median dosis 16 mg (2–64 mg) dan 29,6% subjek memiliki tampilan cushingoid. Kebanyakan subjek tidak mengalami depresi (48,8%) maupun ansietas (71,2%). Median skor support sosial subjek adalah 70 (12–84). Median skor MG-QOL15 INA adalah 21 (2–56). Berdasarkan analisis bivariat, variabel yang berhubungan bermakna dengan kualitas hidup pasien MG adalah status antibodi, konsumsi steroid, depresi, dan ansietas. Berdasarkan analisis multivariat, variabel yang berhubungan bermakna dengan kualitas hidup pasien MG adalah latihan fisik dan depresi.Kesimpulan. Latihan fisik dan depresi merupakan faktor penting yang memengaruhi kualitas hidup pasien MG secara bermakna

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Backgrounds. Myasthenia gravis (MG) is a chronic autoimmune disease that manifests as muscle weakness in various locations, which its incidence has been increasing over the past few decades. Quality of life is an essential aspect in the management of MG. Several factors have been known to influence the quality of life in MG patients. This study aimed to provide a general overview of the quality of life of MG patients and the associated factors at the national referral hospital, Cipto Mangunkusumo National General Hospital, Jakarta.

Methods. A cross-sectional study was conducted at Cipto Mangunkusumo National General Hospital from February to April 2023. Myasthenia gravis patients in therapy, both symptomatic and immunosuppressant, for at least 6 months were recruited for the research. Subjects were interviewed using a questionnaire, and medical record data were recorded based on the variables under investigation. Bivariate and multivariate analyses were performed to examine the relationships between the independent and dependent variables.

Results. A total of 80 subjects met the inclusion criteria for the study. The mean age of the subjects was 44.73 ± 13.09 years. The majority of the subjects were female (68.8%), married (65%), had secondary education (42.5%), had blue-collar jobs (76.2%), and did not engage in physical exercise (73.8%). The median BMI (Body Mass Index) of the subjects was 24.86 kg/m2 (16.77-128.57 kg/m2). The median duration of the disease for the subjects was 60 months (9-504 months). The mean age at diagnosis was 38.73 ± 14.24 years. Most subjects had early-onset myasthenia gravis (EOMG) (73.8%) and generalized MG symptoms (72.5%). About 38.8% of the patients had a history of thymoma. Out of the 31 subjects (83.9%) with thymoma, underwent thymectomy. The majority of the subjects did not have their antibody status checked (63.8%). About 37.5% of the subjects had a normal MGFA (Myasthenia Gravis Foundation of America) status, and the median MGCS (Myasthenia Gravis Composite) score was 1.59 (0-13). Most subjects had stable symptoms (78.7%). Around 33.8% of the subjects used steroids with a median dose of 16 mg (2-64 mg). There were 29.6% of the subjects with steroid exhibited Cushingoid features. There were 50% of the subjects received azathioprine. The majority of the subjects did not experience depression (48.8%) or anxiety (71.2%). The median score for social support was 70 (ranging from 12 to 84), and the median score for MG-QOL15 INA (Myasthenia Gravis Quality of Life 15 Indonesia) was 21 (ranging from 2 to 56). Based on bivariate analysis, variables significantly associated with the quality of life of MG patients were antibody status, steroid usage, depression, and anxiety. Based on multivariate analysis, variables significantly associated with the quality of life of MG patients were physical exercise and depression.

Discussions. Physical exercise and depression independently affected the quality of life of MG patients."

"ABSTRAKProlaps uteri merupakan kondisi yang sering dialami oleh perempuan dan dapat menurunkan kualitas hidup. Penyebab prolaps uteri multifaktorial, pada umumnya berupa faktor klinis.Penelitian ini bertujuan untuk mengetahui adanya variasi gen berupa mutasi gen HOXA11 dan COL3A1 pada penderita prolaps uteri, mengetahui adanya perbedaan ekspresi protein HOXA11, COL3A1, COL1A1, MMP2, MMP9, TIMP, dan p53 pada penderita prolaps uteri dibandingkan pada perempuan tanpa prolaps uteri, serta mengetahui faktor risiko yang berhubungan dengan prolaps uteri.Studi potong lintang ini melibatkan 22 pasien prolaps uteri dan 22 tanpa prolaps uteri mulai Juni 2016 sampai Februari 2017 di RSUP dr. Kariadi Semarang. Dilakukan pencatatan data karakteristik berupa usia, paritas, IMT dan berat lahir bayi. Dilakukan pemeriksaan sekuens DNA gen HOXA11 dan Col3A1, pemeriksaan imunohistokimia pada ligamentum sakrouterina untuk menilai ekspresi protein HOXA11, COL1A1, Col3A1, MMP2, MMP9, TIMP, dan p53 pada perempuan menopause dengan prolaps uteri dan tanpa prolaps uteri.Tidak didapatkan variasi berupa mutasi gen HOXA11 pada perempuan dengan prolaps uteri sepanjang fragmen yang digunakan untuk sekuensing DNA. Didapatkan mutasi pada gen COL3A1 pada 10 pasien dengan prolaps uteri dan 6 pasien tanpa prolaps uteri p = 0,719 sepanjang fragmen yang digunakan untuk sekuensing DNA. Ekspresi protein COL1A1, MMP-9 dan p53 lebih tinggi pada kelompok prolaps p < 0,05 . Rerata usia, rerata paritas dan rerata berat lahir bayi, berbeda secara uji statistik pada kedua kelompok.Pada fragmen yang diperiksa tidak didapatkan mutasi gen HOXA11, namun didapatkan mutasi gen COL3A1 pada penderita prolaps maupun perempuan tanpa prolaps uteri. Tampak adanya faktor internal yang berperan untuk terjadinya prolaps uteri selain berbagai faktor risiko klinis. Faktor eksternal berupa usia, berat bayi lahir, dan paritas memiliki hubungan dengan prolaps uteri. Kata kunci: COL1A1, COL3A1, faktor klinis, HOXA11, menopause, MMP2, MMP9, mutasi gen, p53, prolaps uteri, TIMP.

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ABSTRACTUterine prolapse is a condition that decreases the quality of life of women. Multiple factors, mostly clinical, affect the course of uterine prolapse.The aims of the study were to investigate the genetic variation in the form of HOXA11 and Col3a2 gene mutations in women with uterine prolapse. This study also aimed to investigate different expression of HOXA11, COL3A1, COL1A1, MMP2, MMP9, TIMP, and p53 proteins in women with and without uterine prolapse, and to understand risk factors associated with uterine prolapse.A total of 44 women were enrolled in this cross sectional study, 22 of which with uterine prolapse and 22 others without uterine prolapse. This study was conducted between June 2016 and February 2017 in RSUP dr Kariadi, Semarang. demographic data including age, parity, BMI, and birth weight were recorded. HOXA11 and COL3A1 gene sequencing, immunohistochemistry testing of uterosacral ligament were conducted to assess HOXA11, COL1A1, COL3A1, MMP2, MMP9, TIMP, and p53 protein expressions.A mutation in COL3A1 gene along the fragment used in DNA sequencing was found among 10 women with uterine prolapse and 6 women without uterine prolapse although this did not reach statistical significance p .719 . No genetic variation in the form of HOXA11 gene mutation was found in women with uterine prolapse. Higher expression of COL1A1, MMP 9 and p53 proteins were found in prolapse group p .05 . The average of age, parity, and birth weight in two groups were statistically different.Only the COL3A1 gene mutation was detected in women with and without uterine prolapse. Beside, various clinical factors, it was confirmed that some internal factors also play important role in the course of uterine prolapse. Examples of external factors are age, birth weight, and parity. Key word COL1A1, COL3A1, clinical factors, gen mutation, HOXA11, menopause, MMP2, MMP9, p53, TIMP, uterine prolapse."