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Abstrak :
Latar Belakang: Sindroma ovarium polikistik (SOPK) merupakan sebuah penyakti dengan prevalensi yang tinggi dan beban kesehatan yang besar. Hingga saat ini, penyebab SOPK masih belum jelas. Penelitian sebelumnya mengenai ekspresi reseptor vitamin D (VDR) pada pasien SOPK menunjukkan hasil yang menjanjikan namun belum terbukti secara jelas. Oleh sebab itu, diduga bahwa polimorfisme VDR berperan penting dalam kejadian dan beratnya gejala SOPK. Metode: Penelitian potong lintang dilakukan pada pasien SOPK dan wanita usia reproduktif non-SOPK sebagai kontrol pada November 2019 hingga 2021. Pasien hamil, menyusui, memiliki riwayat gangguan hormon adrenal, tiroid, maupun prolaktin, atau mengonsumsi obat hormonal dalam 6 bulan terakhir dieksklusi dari penelitian. Subjek penelitian direkrut secara konsekutif. Ekspresi VDR dinilai dari ekspresi mRNA VDR yang dinilai dengan pemeriksaan PCR. Polimorfisme VDR dinilai pada tiga titik regio penyandi gen, yakni rs7975232, rs11574113, dan rs11574114. Hasil: Sebanyak 80 pasien SOPK dan 80 pasien kontrol diikutsertakan dalam penelitian. genotip A/A pada regio rs7975232 dan genotip C/C pada regio rs11574113 lebih banyak didapatkan pada pasien dengan SOPK. Di sisi lain, genotip A/C pada regio rs7975232 dan genotip C/G pada regio rs11574114 lebih banyak didapatkan pada kelompok kontrol (p < 0,05). Tidak terdapat perbedaan ekspresi VDR pada pasien dengan polimorfisme yang berbeda (p > 0,05). Kesimpulan: Didapatkan polimorfisme gen penyandi VDR yang berbeda antara pasien SOPK dan non-SOPK. Tidak didapatkan perbedaan ekspresi VDR yang bermakna antara pasien SOPK dan non-SOPK. ......Background: Polycystic ovary syndrome (SOPK) is a disease with a high prevalence and a large health burden. Until now, the cause of SOPK is still unclear. Previous studies on vitamin D receptor (VDR) expression in PCOS patients have shown promising results but have not been clearly proven. Therefore, it is suspected that the VDR polymorphism plays an important role in the incidence and severity of PCOS symptoms. Methods: A cross-sectional study was conducted on PCOS patients and non-SOPK women of reproductive age as controls from November 2019 to 2021. Patients who were pregnant, breastfeeding, had a history of adrenal, thyroid, or prolactin hormone disorders, or had taken hormonal drugs in the last 6 months were excluded from the study. study. Research subjects were recruited consecutively. VDR expression was assessed from VDR mRNA expression assessed by PCR examination. VDR polymorphism was assessed at three points in the gene encoding region, namely rs7975232, rs11574113, and rs11574114. Results: A total of 80 PCOS patients and 80 control patients were included in the study. A/A genotypes in the rs7975232 region and C/C genotypes in the rs11574113 region were more common in patients with PCOS. On the other hand, the A/C genotype in the rs7975232 region and the C/G genotype in the rs11574114 region were more common in the control group (p < 0.05). There was no difference in VDR expression in patients with different polymorphisms (p > 0.05). Conclusions: Different polymorphisms of the VDR coding gene were found between PCOS and non-SOPK patients. There was no significant difference in VDR expression between PCOS and non-SOPK patients.

Abstrak :
ABSTRAK
Obstructive sleep apnea (OSA) is a disease with recurrent episodic of partial or total upper airway collapse during sleep. Snoring is a main symptom of OSA because it may be caused by upper airway collapse during sleep. Several risk factors has been identified as risk factors for OSA. They are male gender, increased of age, overweight or obesity, big neck, craniofacial abnormality, upper airway disease or abnormality, smoking, gene, menopause, nasal congestion, and alcohol consumption. Overweight or obesity are major risk factor of OSA. Obesity also increased progressivity of OSA.

Abstrak :
Latar Belakang: Sindrom ovarium polikistik merupakan kelainan endokrin dan metabolik terbanyak yang dialami oleh wanita usia reproduksi. Penyebab dari SOPK diketahui multifaktorial, namun faktor lemak memiliki peranan penting dalam perjalanan penyakit. Pada pasien SOPK ditemukan akumulasi lemak dilokasi tertentu. Komposisi lemak tubuh dapat menyebabkan proses inflamasi klinis derajat rendah yang berperan dalam terjadinya resistensi insulin pada pasien SOPK. Pengukuran komposisi lemak tubuh berdasarkan indeks massa tubuh kurang spesifik. Persentase lemak tubuh diperkirakan lebih spesifik dalam menggambarkan komposisi lemak tubuh dan memiliki korelasi dengan proses inflamasi kronis derajat rendah yang gambarkan oleh peningkatan prokalsitonin darah pasien dengan SOPK. Tujuan: Penelitian ini bertujuan untuk mengetahui korelasi komposisi lemak tubuh terhadap kadar prokalsitonin sebagai penanda biokimiawi inflamasi kronis derajat rendah. Metode: Penelitian dilakukan dengan desain penelitian potong lintang (cross sectional), di klinik Yasmin RSUPN Dr.Cipto Mangunkusumo dan Laboratorium Terpadu FKUI selama tahun 2014-2015. Pasien yang sudah terdiagnosis SOPK berdasarkan kriteria Rotterdam 2003, dilakukan pemeriksaan indeks massa tubuh, persentase lemak tubuh dengan menggunakan metode bioelectrical impedance analysis dan pemeriksaan prokalsitonin darah. Dilakukan uji korelasi antara indeks massa tubuh dan persentase lemak tubuh terhadap kadar prokalsitonin darah pasien. Hasil: Dari total 32 subyek penelitian, didapatkan peningkatan komposisi lemak tubuh dengan rerata indeks massa tubuh 29,09±5,11 kg/m2 dan komposisi lemak tubuh 39,38±9,04 %. Pada uji korelasi didapatkan peningkatan indeks massa berkorelasi positif terhadap kadar prokalsitonin namun tidak bermakna secara statistik (r =0,27; p =0,131). Persentase lemak tubuh didapatkan berkorelasi positif bermakna secara statistik dengan kadar prokalsitonin (r=0,35; p=0,048). Kesimpulan: Terdapat peningkatan rerata komposisi lemak tubuh pada pasien dengan sindrom ovarium polikistik. Persentase lemak tubuh memiliki korelasi yang lebih baik dibandingkan dengan indeks massa tubuh terhadap kadar prokalsitonin darah sebagai penanda biokimia inflamasi kronis derajat rendah pada pasien. ......Background: Polycystic ovary syndrome (PCOS) is the most common metabolic and endocrine problems in reproductive ages women. PCOS has multifactorial cause, but body fat was known to has significant role in disease course. Patient with PCOS known to have body fat accumulation in some body location. Body fat composition can cause low grade chronic inflamation which can cause insulin resistence. Measuring body fat composition with body mass index is not an ideal method. Body fat percentage should be more specific in measuring body fat composition and should have better corelation than body mass index to procalcitonin as low grade chronic inflamation marker. Purpose: The purpose of this research is to identify corelation between body fat composition and procalcitonin as low grade chronic inflamation in PCOS. Method: The study was conducted with a cross sectional study design, in Yasmin Clinic, RSUPN Dr.Cipto Mangunkusomo and Integrated Laboratory of Medical Faculty University of Indonesia during 2014-2015. Patients who have been diagnosed with PCOS based on the criteria of Rotterdam, 2003, was examined the body mass index, body fat percentage using bioelectrical impedance analysis and blood procalcitonin level. We measure the correlation between body mass index and body fat percentage to procalcitonin levels of the patient's blood. Result: From a total of 32 subjects of the study, we found an increase in body fat composition with a mean body mass index 29.09 ± 5.11 kg/m2 and body fat composition 39.38 ± 9.04%. From correlation test, we found that body mass index was positively correlated to the levels of procalcitonin but not statistically significant (r = 0.27; p = 0.131). Body fat percentage has significant positive corellation to procalcitonin levels (r = 0.35; p = 0.048). Conclutions: There is an increase in the average composition of body fat in patients with polycystic ovary syndrome. Body fat percentage has a better correlation than the body mass index on blood levels of procalcitonin.

Abstrak :
Latar belakang: Sindrom ovarium polikistik (SOPK) merupakan salah satu kelainan endokrin paling umum pada 7-15% wanita usia reproduksi yang menyebabkan infertilitas anovulatori. SOPK sering ditemukan pada wanita gemuk, sekitar 50-75% tetapi sindrom ini juga dapat ditemukan pada wanita kurus sebesar 5,5%. Penyebab dan patogenesis SOPK sampai sekarang masih diperdebatkan tapi hasil penelitian memperlihatkan hiperandrogen dan resistensi insulin terlibat dalam perkembangan perjalanan penyakit dan fenotip SOPK. Efek androgen dimediasi oleh reseptor androgen (AR) sedangkan efek insulin dimediasi oleh reseptor insulin (INSR). Ekspresi dan aksi dari kedua reseptor ini terutama pada sel granulosa ovarium dapat dipengaruhi oleh mekanisme epigenetik yang diduga terlibat dalam perkembangan penyakit SOPK ini. Tujuan: Mengetahui tingkat metilasi DNA pada gen reseptor androgen (AR) dan reseptor insulin (INSR) serta ekspresi mRNAnya pada sel granulosa subjek SOPK dan nir-SPOK. Metode: Penelitian ini merupakan penelitian deskriptif analitik dengan rancangan cross sectional. Sampel berupa sel granulosa dari folikel ovarium didapatkan dari wanita yang melakukan ovum pick up (OPU) di klinik Yasmin RSUPN Ciptomangunkusumo yang kemudian dilakukan isolasi DNA dan RNA. Pada isolat DNA dilakukan konversi bisulfit, Methyl Specifik PCR (MSP), elektroforesis dan analisis ketebalan pita dengan perangkat lunak ImageJ untuk mendapatkan data tingkat metilasi DNA. Pada isolat RNA dilakukan qPCR untuk mendapatkan ekspresi relatif mRNA gen AR dan INSR. Hasil: Analisis data dari 21 subjek SOPK dan 20 subjek nir SOPK menunjukkan terdapat perbedaan bermakna (p=0,00) tingkat metilasi DNA gen AR pada pasien SOPK (45.24 %±16,84) dibandingkan nir-SOPK (84,96±15,45). Analisis gen INSR, pada subjek SOPK 100% tidak terjadi metilasi pada promotor gen INSR tetapi pada subjek nir-SOPK 1 dari 21 wanita mengalami metilasi parsial ((37,82%±8,25). Dari penelitian juga didapatkan terjadinya peningkatan ekspresi relatif mRNA AR sebesar 2,459 kali dan 1,791 kali pada mRNA INSR. Tidak terdapat korelasi antara tingkat metilasi gen AR dan INSR dengan ekspresi mRNAnya. Kesimpulan: Penurunan tingkat metilasi DNA (hipometilasi) pada gen AR dan INSR dapat meningkatkan tingkat ekspresi mRNA AR dan INSR, yang kemudian berkontribusi terhadap kejadian hiperandrogen dan resistensi insulin pada fenotip subjek SOPK. ......Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in 7-15% of women of reproductive age who cause anovulatory infertility. PCOS is often found in obese women, around 50-75% but this syndrome can also be found in thin women at 5.5%. The causes and pathogenesis of PCOS is still debated but the results of the study show hyperandrogen and insulin resistance involved in the development of the disease course and the PCOS phenotype. The androgen effect is mediated by the androgen receptor (AR) while the effect of insulin is mediated by the insulin receptor (INSR). The expression and action of these two receptors, especially in ovarian granulosa cells can be influenced by epigenetic mechanisms that are thought to be involved in the development of PCOS. Objective: To determine the level of DNA methylation in the androgen receptor gene (AR) and insulin receptor (INSR) and its mRNA expression in the SOPK and nir-SPOK granulosa cells. Method: This study is a descriptive analytic study with a cross sectional design. Samples in the form of granulosa cells from ovarian follicles were obtained from women who performed ovum pick up (OPU) at the Yasmin clinic Ciptomangunkusumo Hospital which was then isolated from DNA and RNA. DNA isolates were carried out bisulfite conversion, Methyl Specific PCR (MSP), electrophoresis and tape thickness analysis with ImageJ software to obtain DNA methylation level data. QPCR was performed on RNA isolates to obtain the relative expression of the AR and INSR mRNA genes. Results: Analysis of data from 21 SOPK subjects and 20 non-PCOS subjects showed significant differences (p = 0.00) of AR gene DNA methylation rates in PCOS patients (45.24% ± 16.84) compared to non-PCOS (84.96 ± 15 , 45). INSR gene analysis, in the subject of 100% PCOS there was no methylation of the INSR gene promoter but in non-PCOS subjects 1 out of 21 women had partial methylation ((37.82% ± 8.25). AR is 3.459 times and 2.791 times in INSR mRNA. There is no correlation between the rate of methylation of the AR and INSR genes with their mRNA expression. Conclusion: Decreasing levels of DNA methylation (hypomethylation) in AR and INSR genes can increase the level of expression of mRNA AR and INSR, which then contributes to the incidence of hyperandrogen and insulin resistance in the phenotype of the PCOS subject.

Abstrak :
Sleep disordered breathing in children : a comprehensive clinical guide to evaluation and treatment is a comprehensive, timely and up-to-date review of pediatric sleep disordered breathing (SDB) and offers a thorough focus on several key areas: namely, the normal development and maturation of the airway and breathing during sleep, the techniques that are in place for assessment of SDB in children, the clinical manifestations and characteristics of several pediatric populations at risk for SDB, the implications of SDB in various end-organ systems, and, finally, a critical review of the evidence on current therapeutic approaches. This unique and complete text is of welcome interest to all practicing physicians and healthcare professionals who evaluate children with sleep problems, namely pulmonologists, pediatricians, sleep physicians, pediatric neurologists, pediatric otolaryngologists, and family practitioners, as well as clinical researchers, pediatric nurse practitioners and respiratory therapists.