Identifikasi Mutasi Heteroplasmi A3243g Dna Mitokondria Dan Studi Pewarisan Maternal Pada Pasien Diabetes Melitus Tipe 2

Mutasi A3243G DNA mitokondria (mtDNA) adalah mutasi subsitusi basa A ke G pada posisi 3243 gen tRNALeu. Salah satu fenotipe klinis yang disebabkan mutasi A3243G mtDNA adalah MIDD (Maternally Inherited Diabetes and Deafness) yang merupakan salah satu bentuk diabetes melitus (DM) tipe 2. Penelitian ini bertujuan untuk mengidentifikasi mutasi heteroplasmi A3243G manusia Indonesia pada pasien DM tipe 2 dan mempelajari pewarisan maternal mutasi A3243G hingga tiga generasi dengan memanfaatkan metode PCRRFLP(Polymerase Chain Reaction–Restriction Fragments Length Polymorphism), PASA (PCR-Amplification of Specific Allelle) dan PCR-SSCP (PCR-Single Strand Conformation Polymorphism). mtDNA diperoleh dari hasil lisis sampel darah. Hasil penelitian menunjukkan bahwa mutasi A3243G teridentifikasi pada 2 dari 101 pasien DM tipe 2. Mutasi heteroplasmi A3243G dapat ditunjukkan dari hasil PCR-RFLP dan PASA. Hasil RFLP menunjukkan adanya tiga fragmen, masing-masing yaitu fragmen utuh 294, 182 dan 112 pb sebagai hasil restriksi enzim ApaI. Hasil PASA menunjukkan adanya dua fragmen dengan ukuran 200 pb pada alel normal dan mutan. Mutasi A3243G yang teridentifikasi mempunyai tingkat heteroplasmi yang rendah karena tidak dapat teridentifikasi dengan direct sequencing dan PCR-SSCP (akrilamid:bis-akrilamid 49:1%). Pewarisan maternal mutasi heteroplasmi A3243G dapat teridentifikasi dengan PASA

The Association Between LH Serum Levels at the TIME of HCG Injection and Clinical Pregnancy During IVF

Some studies showed that recombinant follicle stimulating hormone (r-FSH) administration without LH supplementation has a good success rate on in vitro fertilization (IVF). However, LH role in IVF has been controversial. This study was conducted to evaluate the association between serum LH levels at the time of hCG injection and clinical pregnancy during IVF. This retrospective study included 136 patients underwent long protocol IVF from January 2005 to December 2009 in Yasmin Clinic, Cipto Mangunkusumo Hospital, Jakarta. The controlled ovarian hyper-stimulation protocol used in this study was gonadotropin-releasing hormone (GnRH) agonist and r-FSH.  Serum LH level was measured on the day of hCG administration and the outcome evaluated was the clinical pregnancy following IVF cycles. There were 32 IVF cycles resulted in pregnancy out of 136 cycles (23.5%). There was significant difference between serum LH levels on the day of hCG administration and clinical pregnancy outcome (p=0.036). LH serum level cut-off value of ≥1.050 IU/l was the best value to predict pregnancy outcome with 62.5% sensitivity, 59.4% specificity, 83.3% positive predictive value, and 32.76% negative predictive value. It was concluded that there was an association between serum LH levels at the time of hCG injection and clinical pregnancy during IVF

Case Management of Pure Gonadal Dysgenesis 46, XY (Sindrom Swyer)

Disorders of sex development (DSD) are medical conditions in which the development of chromosomal, gonadal or anatomic sex varies from normal and may be incongruent with each other. Swyer syndrome is a condition caused by pure gonadal dysgenesis 46,XY, which followed by inadequate anti-mullerian (AMH) production results in maintenance and further development of mullerian duct into uterus. Therefore, many patients who suffer from this condition initially come with chief complaint of primary amenorrhea with insufficient development of secondary sexual characteristics. Patient’s gender orientation commonly is a female, since her brain was not sufficiently exposed with androgen hormone. Management of DSD patients should be based on patient-centered approach. Therefore, overall management of DSD patients should follow according to patient’s perception regarding to her gender orientation. Herein, we reported a case of Swyer syndrome in female aged 29 years with chief complain primary amenorrhea. Chromosomal analysis was 46,XY (20 mataphase), FSH level was 31.5miu/ml, LH 10.8miu/ml, estradiol (E2) <5pg/ml, testosteron total (T) <0.0025ng/ml. Medical management for this patient has the purpose to drive her feminization process in order to improve her physical appearance. However, since there is a great tisk for having gonadal tumor development from intra-abdominal dysgenetic gonad with Y chromosome, this patient has been strongly suggested to have bilateral gonadectomy.&nbsp

The Effectiveness of Phalleria Macrocarpa Bioactive Fraction in Alleviating Endometriosis And/or Adenomyosis Related Pain

The overexpression of estrogen receptor-beta (ER-ß) and the cyclooxygenase-2 (COX-2) enzyme coupled with the absence of expression of progesterone receptors (PR) is critical to thepathogenesis of endometriosis and adenomyosis associated pain.  DLBS1442, a novel bioactiveextract of Phaleria macrocarpa, exerts its action by downregulating the overexpressed ER-ß andCOX-2 products and up-regulating PR gene expression. This pilot study was conducted to evaluatethe effectiveness of DLBS1442 treatment in alleviating endometriosis- and/or adenomyosis-relatedpain. Ten endometriosis and/or adenomyosis patients were recruited consecutively at YasminClinic Dr. Cipto Mangunkusumo General Hospital in January - March 2013. Pain associated withmenses, including pre-menstrual pain, dysmenorrhea, dyschezia and dysuria, was measuredusing the visual analog scale (VAS) at each of the next three menstrual cycles. Patients reportingone or more pain symptoms with a VAS score = 4 were given 100 mg of DLBS1442 three timesdaily for 12 weeks. VAS score reduction was noted in the first post-treatment menstrual cycle(approximately 5.3 weeks after treatment initiation) and VAS scores continued to decline overthe final two cycles. DLBS1442 was effective in alleviating endometriosis- and/ or adenomyosisrelatedpain, as demonstrated by early pain reduction as evaluated using the VAS

How the Type of Surgery and Adherence to the Clinical Pathway Correlate with Quality Control and Cost Control in Endometriosis Surgery: Bagaimana Jenis Pembedahan dan Kepatuhan pada Clinical Pathway Berhubungan dengan Kontrol Kualitas dan Kontrol Biaya pada Operasi Endometriosis

Objective: This study examined the correlation of the type of surgery and adherence to the clinical pathway corresponding to the national guidelines in terms of quality and cost control. Methods : Quantitative economic evaluation was conducted to assess the type of surgery and adherence to clinical pathways in terms of quality and cost control. The data were analyzed using the chi-square or Mann–Whitney test. Results : Of the sample of 82 patients who had undergone laparoscopy or laparotomy, 54.9% had a laparoscopic procedure, while 45.1% had undergone laparotomy ; only 25.6% of the case procedures adhered to the clinical pathway. In general, it can be interpreted that, in a laparoscopy procedure, the potential risk that a mismatch will occur in quality control is up to 32 times that of a laparotomy procedure. Moreover, good adherence to the clinical pathway does not correlate with good cost control. Overall, of the 82 cases, only three (3.7%) showed a good fit for both quality control and cost control. Conclusions : The type of surgery correlates with quality and cost control, whereas adherence to the clinical pathway does not correlate with either quality or cost control. Keywords: Laparotomy, Laparoscopy, surgery, endometriosis, national health insurance Abstrak Tujuan: Studi ini menguji korelasi jenis operasi dan kepatuhan terhadap jalur klinis yang sesuai dengan pedoman nasional dalam hal kontrol kualitas dan biaya. Metode: Evaluasi ekonomi kuantitatif dilakukan untuk menilai jenis operasi dan kepatuhan terhadap jalur klinis dalam hal kualitas dan pengendalian biaya. Data dianalisis menggunakan uji chi-square atau Mann-Whitney. Hasil: Dari sampel 82 pasien yang pernah menjalani laparoskopi atau laparotomi, 54,9% menjalani prosedur laparoskopi, sedangkan 45,1% pernah menjalani laparotomi ; hanya 25,6% dari prosedur kasus yang mengikuti jalur klinis. Secara umum dapat diartikan bahwa, dalam prosedur laparoskopi, potensi risiko terjadinya ketidaksesuaian dalam kontrol kualitas adalah hingga 32 kali lipat dari prosedur laparotomi. Selain itu, kepatuhan yang baik terhadap jalur klinis tidak berkorelasi dengan pengendalian biaya yang baik. Secara keseluruhan, dari 82 kasus, hanya tiga (3,7%) yang menunjukkan kesesuaian yang baik untuk pengendalian kualitas dan pengendalian biaya. Kesimpulan: Jenis pembedahan berkorelasi dengan kualitas dan pengendalian biaya, sedangkan kepatuhan terhadap jalur klinis tidak berkorelasi dengan kualitas atau pengendalian biaya. Kata kunci: Laparotomi, Laparoskopi, pembedahan, endometriosis, jaminan kesehatan nasiona

Homocysteine Level in the Blood and Follicular Fluid is Higher in Infertile Women with Endometriosis

Objective: To compare and determine the differences in the level of homocysteine in the blood and follicular fluid in infertile women with and without endometriosis, then analyze the effect of homocysteine levels to oocyte quality. Methods: This study was cross-sectional study. Fifty-nine subjects following the in-vitro fertilization program are included in the admission criteria were divided into two equal groups, ie groups of endometriosis and without endometriosis consecutively (consecutive sampling). Each subject taken from the blood and follicular fluid then measured the levels of homocystein levels with immuoassay method. The mean of each group was statistically tested with an independent t test. Result: The mean levels of homocysteine in the blood is higher in the endometriosis group than without endometriosis group and it was statistically significance (8.34 ± 2.68 vs 6.71 ± 1.56, p=0.007; 95% CI: 0.02417-0.14657). Similarly, the levels of homocysteine in follicular fluid , the endometriosis group is higher and statistically significance (6.19 ± 1.67 vs 3.46 ± 1.03; p= 0.000; 95% CI: 0.19310-0.32353). All oocytes are in good quality in both groups, maturation grade 3. There is a correlation between the levels of homocysteine in the blood and follicular fluid in the endometriosis group and assessed with Pearson test, and it found significant (p = 0.002) and the correlation value 0.553 (moderate correlation strength) and direction of a positive correlation. Conclusion: The mean levels of homocysteine in the blood and follicular fluid in infertile women with endometriosis is higher than without endometriosis and were statistically significantly different. These homocysteine levels does not affect the quality of oocytes. There is a positive correlation between the levels of homocysteine in the blood and follicular fluid in endometriosis group. [Indones J Obstet Gynecol 2013; 37-2: 92-8] Keywords: endometriosis, homocysteine, infertility, oocyte qualit

Visceral Adipose Tissue was Associated with Increased Risk of Insulin Resistance in Lean Polycystic Ovarian Syndrome, Independent with Retinol Binding Protein-4: Jaringan Adiposa Viseral berkaitan dengan Peningkatan Risiko Resistensi Insulin pada Sindrom Ovarium Polikistik dengan Indeks Masa Tubuh Normal, Independen terhadap Retinol Binding Protein-4

Objective: To determine whether visceral adipose tissue or serum RBP-4 were related with the risk increment of insulin resistance in normal BMI PCOS patients. Methods: This was a cross-sectional study conducted in normal body mass index PCOS patients at Yasmin Clinic, RSCM, Jakarta from July 2014 until March 2015. Diagnosis of PCOS was established using Rotterrdam (2003) criteria. Insulin resistance was confirmed by using ratio of HOMA-IR >1.4. Results: Among 40 subjects, 20 subjects (50%) belong insulin resistance group. Serum RBP-4 level was higher in insulin resistance group (p=0.06). After ROC analysis was conducted, area under curve for of serum RBP-4 was 69.9% (CI 95% -3754.77 - (186.60-7696.14, p=0.061)). Cut-off level of serum RBP-4 was 23814.5 ng/mL yielded sensitivity and specificity to a level of 60% and 60%, respectively. After logistic regression were analyzed, visceral adipose tissue demonstrated substantial association with the risk increment of insulin resistance in normal BMI PCOS patients. Conclusions: Visceral adipose tissue demonstrated substantial association with the risk increment of insulin resistance in normal BMI PCOS patients, independent with serum RBP-4 levels. Key words: body mass index, diagnosis, insulin resistance, PCOS, retinol binding protein-4   Abstrak Tujuan: Untuk menentukan apakah jaringan adiposa viseral atau serum RBP-4 berhubungan dengan peningkatan risiko resistensi insulin pada Sindrom Ovarium Polikistik dengan indeks masa tubuh normal. Metode: Studi potong lintang dilakukan pada subjek SOPK dengan IMT normal di Klinik Yasmin, RSCM, Jakarta sejak Juli 2014 sampai dengan Maret 2015. Penegakan diagnosis SOPK dilakukan dengan kriteria Rotterdam (2003). Resistensi insulin dikonfirmasi dengan pemeriksaan rasio HOMA-IR > 1.4 Hasil: Diantara 40 subjek, sebanyak 20 subjek (50%) mengalami resistensi insulin. Kadar serum RBP-4 lebih tinggi pada kelompok resistensi insulin (p=0.06). Setelah dilakukan analisis Receiver Operating Curve (ROC), serum RBP-4 memiliki Area Under the Curve  (AUC) sebesar 69.9% (IK 95% -3754.77 - (186.60-7696.14, p=0,061)). Titik potong kadar serum RBP-4 adalah 23814.5 ng/mL dengan sensitivitas dan spesifisitas masing-masing 60% dan 60%. Setelah dilakukan analisis regresi logistik, jaringan adiposa viseral menunjukan asosiasi yang kuat dengan terjadinya resistensi insulin pada pasien SOPK dengan IMT normal. Kesimpulan: Jaringan adiposa viseral menunjukan asosiasi yang kuat dengan terjadinya resistensi insulin pada SOPK dengan IMT normal, independen terhadap kadar serum RBP-4. Kata kunci: diagnosis, indeks masa tubuh, resistensi insulin, retinol binding protein-4, SOP

Correlation between Follicular Fluid’s Androgen Level and Fertilization Rate in Poor Responder Patients Undergone IVF: A Prospective Cohort Done in Yasmin IVF Clinic, Jakarta, Indonesia

Introduction Androstenedione (A4), testosterone (T), and dehidroepiandrosterone (DHEA) are known to be involved in folliculogenesis and follicular maturity. Lower follicular androgen levels in poor responder due to malfunctioned granulosa and theca cells and decreased inhibin B production will decrease FSH and LH. However, androgenic follicular fluid might also induce follicular atresia, decreased oocytes viability, thus affecting fertilization. The aim of current study is to find the correlation between intra-follicular androgen levels and fertilization rate, specifically in poor responder whom contributed in 84% cancelled cycle.Material and Methods This prospective cohort study was done at Yasmin IVF Clinic, Jakarta, Indonesia, in January 2014-March 2015. Infertile women undergone IVF were asked to participate, grouped into poor responder and other, and the androgen levels in the follicular fluid of each consenting patients were measured.Results From total 62 patients, aged 23-47 years old (37.6±5,068), there were 21 poor responders, whereas the other 41 patients with other indication. In poor responder group, levels of androstenedione, testosterone, and DHEA were 50.8 – 272.3 (103.5 ± 59.9), 383.2 – 1747.9 (1114.4 ± 373.2), 11.3 – 454.8 (151.3 ± 96.8), whereas in other group the androgen levels were 44.3 – 326.8 (95.1 ± 61.2), 414.1 – 1463.7 (976.9 ± 258.4), 44.6 – 265.8 (132.7 ± 61.3) with the correlation with fertilization rate 0.609, 0.095, and 0.361 respectively. Conclusion Correlation between follicular androgen levels and fertilization rate found to be not significantly different. The low number of subjects might cause this result, as well as the presence of bias, e.g.male factor and endometriosis might also affect fertilization. A multi-center study with larger sample size added with thorough analysis is needed to reconfirm current data

Estradiol on Day Seven is a Good Predictor for Oocyte Maturation Rate in In Vitro Fertilization Program: Kadar estradiol hari ketujuh sebagai prediktor tingkat kematangan oosit pada program Fertilisasi In Vitro

Abstract Objective: to determine which factors influence the rate of oocyte maturation in In Vitro Fertilization (IVF) program. Methods: A retrospective cohort study was conducted using secondary data from IVF participants at the Yasmin Fertility Clinic, Dr. RSUP. Cipto Mangunkusumo, Jakarta, Indonesia during the period January 2019 to December 2020, as recorded in the InaRepromed archive. The variables analyzed were age, body mass index, and hormone levels on day 1, day 7, and day hCG, with oocyte maturation rate as the main outcome. Correlation test was performed between several variables and the level of oocyte maturation rate and followed by multivariate analysis to assess the factors that were closely related to oocyte maturation rate. Results: Data from 52 subjects were collected for the study. Positive correlation was observed between oocyte maturation rate and estradiol on day 7 (r = 0.229), while negative correlation was observed between oocyte maturation rate and progesterone/estradiol ratio on day 7 (r = -0.289) and luteinizing hormone on day 1 (r = -0.265). Multivariate analysis revealed that higher estradiol on day-7 was associated with better oocyte maturation rate (p = 0.047). Conclusion: Higher estradiol level on day 7 was associated with better oocyte maturation rate in IVF. Keywords: Assisted reproductive technology (ART), estradiol, in vitro fertilization (IVF), progesterone.   Abstrak Tujuan: untuk menentukan faktor-faktor yang mempengaruhi tingkat pematangan oosit dalam program Fertilisasi InVitro (FIV). Metode: Desain penelitian adalah kohort retrospektif, menggunakan data sekunder peserta bayi tabung Klinik Fertilitas Yasmin, RSUP Dr. Cipto Mangunkusumo, Jakarta, Indonesia selama periode Januari 2019 hingga Desember 2020, yang tercatat di dalam arsip InaRepromed. Variabel yang dianalisis adalah umur, indeks massa tubuh, dan kadar hormon pada hari ke-1, hari ke-7, dan hari ke-hCG, dengan tingkat maturasi oosit sebagai luaran utama. Dilakukan analisis korelasi antara beberapa variabel dengan tingkat maturasi oosit, dan dilanjutkan dengan analisis multivariat untuk menilai faktor-faktor yang berhubungan kuat dengan tingkat maturasi oosit. Hasil: Data dari 52 subjek dikumpulkan untuk penelitian ini. Dijumpai korelasi positif antara tingkat maturasi oosit dan estradiol pada hari ke 7 (r = 0,229), sedangkan korelasi negatif diamati pula antara tingkat maturasi oosit dan rasio progesteron/estradiol pada hari ke 7 (r = -0,289) dan hormon luteinisasi pada hari 1 (r = -0,265). Analisis multivariat mengungkapkan bahwa estradiol yang lebih tinggi pada hari ke-7 dikaitkan dengan tingkat maturasi oosit yang lebih baik (p = 0,047). Kesimpulan: Kadar estradiol yang lebih tinggi pada hari ke 7 dikaitkan dengan tingkat pematangan oosit yang lebih baik pada program FIV. Kata kunci : Teknologi reproduksi berbantu (TRB), estradiol, fertilisasi in vitro (IVF), progesteron

PPARy Expression in Eutopic and Ectopic Endometrium of Reproductive Age Women with Endometriosis

Objective: To evaluate the expression of PPARy receptor and to compare its expression in eutopic and ectopic endometrium in women with endometriosis. Method: This is a cross sectional study. Ten female subjects with endometriosis that underwent laparoscopy or laparotomy who fulfilled the inclusion criteria were recruited by consecutive sampling. Two samples were taken, eutopic endometrium and ectopic endometrium from endometriosis cyst wall during surgery of each subject. PPARy expression was examined by two-step RT-qPCR. Our data was statistically examined using the paired t-test and Pearson’s correlation test. Result: PPARy was found to be expressed in eutopic and ectopic endometrium of women with endometriosis using the RT-qPCR method. The expression of PPARy was not statistically different in eutopic and ectopic endometrium (1.16 relative fold vs 1.25 relative fold; p=0.26). By Pearson’s correlation there was a weak positive correlation between PPARy expression of eutopic and ectopic endometrium (r=0.16). Conclusion: PPARy was detected by two-step RT-qPCR in eutopic and ectopic endometrium of women with endometriosis. Semiquantification of PPARy expression showed that there was no significant difference between PPARy expression in eutopic and ectopic endometrium of women with endometriosis. There was a weak positive correlation between PPARy expression in eutopic and ectopic endometrium of women with endometriosis. [Indones J Obstet Gynecol 2015; 3-4: 200-205] Keywords: endometriosis, PPARy, two-step RT-qPC