Hasil Pencarian  ::  Simpan CSV :: Kembali

"ABSTRAKHipospadia merupakan salah satu kelainan genitalia paling umum yang ditemukan pada bayi lelaki baru lahir, yang ditandai adanya meatus uretra di ventral dan bentuk abnormal dari kulup penis. Etiologi hipospadia sebagian besar masih belum diketahui, tetapi dilaporkan dipengaruhi oleh faktor genetik dan lingkungan. Salah satu kelainan genetik adalah defek gen steroid 5 alpha-reductase type 2 (SRD5A2). Belum banyak laporan mengenai faktor genetik pada gen SRD5A2 yang melatarbelakangi hipospadia di Indonesia. Teknik PCR-sekuens dilakukan pada ekson 1-5 gen SRD5A2 pada 40 sampel DNA arsip penyandang hipospadia, dan PCR-RFLP pada ekson 1 dan 4 untuk mendeteksi mutasi p.Val89Leu dan p.Arg227Glu. Hasil penelitian mendapatkan 8 mutasi pada gen SRD5A2, yaitu mutasi p.Gly34Fs, p.Arg50His, p.Val89Leu 3 di ekson 1, p.Tyr128Cys di ekson 2, p.Asn193Ser dan p.Arg227Gln di ekson 4, p.Ile253Val di ekson 5, dan c.281+15T>C di intron 1. Studi in silico untuk memprediksi fungsi dan struktur protein adalah possibly dan/atau probably damaging untuk p.Gly34Fs, p.Arg50His, p.Tyr128Cys, p.Asn193Ser, dan p.Arg227Gln, dan benign untuk p.Val89Leu, Ile253Val, dan c.281+15T>C. Mutasi p.Arg50His dan p.Ile253Val merupakan mutasi baru yang belum pernah dilaporkan di populasi lain. Penelitian ini mendapatkan 8 mutasi pada penyandang hipospadia di Indonesia dan 2 diantaranya merupakan mutasi baru. Selain itu penelitian ini berhasil mengembangkan teknik PCR-RFLP untuk mendeteksi substitusi p.Val89Leu dan p.Arg227Glu. Teknik tersebut dapat diterapkan untuk

---

ABSTRACT

Hypospadias is one of the most common external genitalia congenital abnormalities found in newborn baby boys, which is characterized by urethral opening, penile curvature, and abnormal distribution of the penis foreskin. The etiology of hypospadia is mostly unknown, but it is believed that hypospadias are caused by genetic and environmental factors. There have not been many reports on variations of steroid 5 alpha-reductase type 2 (SRD5A2) gene underlying hypospadias in Indonesia. The PCR-sequencing technique on exon 1-5 SRD5A2 gene were performed on 40 archived DNA samples from hypospadias cases of aged 0-29 years, and PCR-RFLP on exon 1 and 4 to detect mutation p.Val89Leu and p.Arg227Glu. The sequencing result showed that there were eight different mutations identified in the SRD5A2 gene, p.Gly34Fs, p.Arg50His, p.Val89Leu 3 in exon 1, p.Tyr128Cys in exon 2, p.Asn193Ser dan p.Arg227Gln in exon 4, p.Val89Leu in exon 5, and c.281+15T>C in intron 1. In silico analysis showed 5 mutations predicted to be possibly and/or probably damaging (p.Gly34Fs, p.Arg50His, p.Tyr128Cys, p.Asn193Ser, and p.Arg227Gln) and 3 benign mutations (p.Val89Leu, Ile253Val, and c.281+15T>C). p.Arg50His and p.Ile253Val are new mutations that have never been reported before. This study found 8 mutations obtained from hypospadias patients and successfully developed the PCR-RFLP technique to detect p.Val89Leu and p.Arg227Gln mutations, which can be applied as a starting point for mutation detection in places where the mutations frequently detected and access to sequencing technique is limited."

"Latar belakangMekanisme patofisiologi yang menyebabkan terjadinya chordee pada pasien dengan hipospadia dan fase tersembunyi dari penis buried penis pada lemak prepubis masih belum sepenuhnya dimengerti. Reseksi dari jaringan dartos pada umumnya bisa membuat penis kembali menjadi lurus pada pasien dengan hipospadia dan mengkoreksi kasus ini sama pada buried penis, yang menunjukkan adanya patofisiologi yang mirip pada kedua kondisi tersebut yang terkait dengan jaringan dartos. TujuanStudi ini bertujuan untuk membandingkan karakteristik jaringan ikat beserta vaskularisasi dari fascia dartos antara penis normal, buried penis, dan hipospadia. Desain studiKami melakukan studi ini dari Mei 2013 hingga November 2016. Dartos fascia dikumpulkan dari 3 kelompok, yaitu: normal penis, buried penis, dan hipospadia. Kami membandingkan jaringan dari 3 kelompok ini menggunakan pewarnaan Mason Trichrome, Gomori rsquo;s silver impregnasi, Weigert resorcin-fuchsin, dan CD 31 imunohistokimia untuk mengevaluasi serat kolagen, retikulin, elastin, dan sel endothelial dari pembuluh darah. Semua data yang didapatkan kemudian dikuantifikasi menggunakan image J dan dilakukan analisis statistic one way ANOVA. Penilaian dilakukan oleh dua orang ahli patologi secara tersamar tanpa mengetahui diagnosis klinis dari pasien. HasilTotal didapatkan 60 pasien dengan 20 pasien tiap grup. Sebagian besar serat kolagen pada buried penis dan hipospadia menunjukkan serat yang lebih tebal dan jumlah yang lebih sedikit dibandingkan dengan penis normal. Terdapatkan penurunan jumlah total kolagen dan elastin pada dartos fascia hipospadia dan buried penis. Di sisi lain, rasio dari retikulin yang merepresentasikan kolagen tipe III terhadap total kolagen mengalami peningkatan dibandingkan penis normal. DiskusiIni adalah studi pertama yang membandingkan karakteristik histopatologi, histokimia, dan imunohistokimia dari jaringan ikat pada pasien buried penis dan hipospadia. Walaupun dartos fascia pada buried penis dan hipospadia tebal dan inelastis saat dipalpasi atau saat traksi/counter traksi, jaringan ini memiliki vaskularisasi yang baik. Dartos fascia ini inelastis dan bukan merupakan jaringan normal, dan karakteristiknya berbeda dengan jaringan fibrosis. Akan tetapi, studi lebih lanjut dengan jumlah sampel yang lebih besar diperlukan dan harus mendiferensiasikan derajat dari chordee pada pasien dengan hipospadia dan buried penis. KesimpulanTerdapat perbedaan antara jaringan dartos fascia pada hipospadia dan buried penis dengan jaringan penis normal. Jaringan ini merupakan jaringan abnormal padsa pasien hipospadia dan buried penis. Sehingga, kami merekomendasikan untuk dilakukan eksisi jaringan ini saat operasi rekonstruksi. Studi lebih lanjut diperlukan untuk mengetahui patofisiologi dari kondisi ini.

---

IntroductionPathophysiological mechanisms leading to chordee in patients with hypospadias and to the hidden state of buried penis in the prepubic fat remain unclear. Resection of dartos tissue usually makes the penis straight in patients with hypospadias and corrects it in those with buried penis, suggesting a common pathophysiology related to dartos tissue. ObjectiveThis study aimed to compare connective tissue and vascularization of dartos fascia between normal penis, buried penis and hypospadias. Study designWe conducted this study from May 2013 to November 2016. We collected Dartos fascia specimens from 3 groups buried penis, hypospadias, and normal penis as control. We compared the fibers between these groups by Masson Trichrome histochemical staining, Gomori 39 s silver impregnation staining, Weigert resorcin fuchsin staining and CD31 immunohistochemical staining for evaluation of collagen fibers, reticulin fibers, elastin fibers, and endothelial cells of blood vessels, respectively. The collagen fibers, reticular fibers, elastic fibers and vascular vessels were counted with ImageJ, and were analyzed using one way ANOVA test. The assessment conducted by two pathologists was blinded, without knowing the clinical diagnosis of patients. ResultsA total of 60 patients with 20 patients for each group. Collagen fibers for most cases of buried penis and hypospadias showed thicker but lesser number of collagen fibers than normal penis. There was a reduction of total collagen and elastin of dartos fascia in hypospadias and buried penis cases. On the other hand, ratio of reticulin fibers which represent collagen type III to total collagen was increased in comparison to normal penis. DiscussionThis is the first study which compare the histopathological, histochemical, and immunohistochemical features of dartos fascia connective tissue in patients with buried penis and hypospadias.Although dartos fascia in buried penis and hypospadias is thick and inelastic in palpation or during traction counter traction, it is well vascularized tissue. This inelastic dartos fascia tissue is an abnormal tissue, but its characteristic is not similar to fibrotic tissue. However, further study with larger sample is warrant and should differentiate degree of chordee in patients with hypospadias and buried penis. ConclusionsThere was a difference between connective tissue of dartos fascia in buried penis and hypospadias patients compared to normal penis. Inelastic dartos fascia tissue in patients diagnosed with buried penis and hypospadias is an abnormal tissue. Therefore, it is suggested to excise this tissue during reconstructive surgery. Further research is needed to unveil the pathophysiology of the condition."

"Hipospadia adalah kelainan kongenital kedua yang paling banyak ditemui pada anak. Pembedahan merupakan tindakan utama untuk mengatasi masalah hipospadia. Nyeri akut akibat pembedahan merupakan masalah keperawatan utama yang dialami anak paska pembedahan. Tujuan dari intervensi keperawatan  yang diberikan pada anak dengan hipospadia paska pembedahan untuk perbaikan fistel adalah meningkatkan rasa nyaman aman dengan mengurangi rasa nyeri melalui penerapan teknik relaksasi napas dalam. Hasil penerapan  teknik relaksasi napas dalam yang dilakukan selama empat hari perawatan menunjukkan penurunan skor nyeri dari skor 5 menjadi 2 yang dilakukan pengukuran menggunakan numeric rating scale. Hasil karya ilmiah ini diharapkan menjadi salah satu alternatif untuk mengurangi nyeri anak khususnya pada anak dengan masalah nyeri akut paska pembedahan.

---

Hypospadias is the second congenital disorder that is commonly found among children. Surgery becomes the main treatment for Hypospadias. An acute pain caused by the surgery is the main nursing matter faced by the child after the surgery. The purpose of nursing intervention given to the Hypospadias child after the fistula repair surgery is to increase the feeling of comfort and secure by relieving the pain through the implementation of deep breath relaxation technique. The result of the application of deep breath relaxation technique conducted for four nursing days shows the decrease of pain scores from a score of 5 to 2 which was measured by using numeric rating scale. The result of this research paper is expected to become one of the alternatives to relieve the pain of the child especially the child who suffers from an extreme pain after the surgery."

"Hipospadia adalah kelainan kongenital yang menyebabkan anatomi pembukaan saluran kemih berada pada bagian ventral penis. Salah satu faktor risiko hipospadia adalah faktor gaya hidup yang tidak baik ataupun polusi udara yang dapat ditemukan pada masyarakat perkotaan. Penatalaksaan medis hipospadia adalah dengan operasi uretroplasti yang dapat menimbulkan masalah keperawatan berupa nyeri akut. Tujuan penulisan karya ilmiah ini adalah menguraikan asuhan keperawatan pada anak dengan hipospadia. Salah satu intervensi yang diimplementasikan adalah teknik distraksi dengan menonton video kartun animasi. Hasil evaluasi dari tindakan keperawatan yang berupa manajemen nyeri farmakologis dan non farmakologis selama tiga hari adalah skala nyeri anak turun dari skala nyeri 3/10 menjadi 0/10 atau tidak nyeri, anak tampak tenang dan dapat tertawa saat ada adengan lucu pada video kartun. Penulis menyarankan rumah sakit menyediakan fasilitas untuk melakukan distraksi pada anak berupa radio atau tape recorder untuk memutar musik, televisi untuk memutar video animasi ataupun mainan yang dapat mendistraksi anak. Sehingga distraksi dapat dilakukan sesuai dengan karakteristik nyeri dan usia anak.

---

Hypospadias is a congenital aberration that causes the anatomy of the opening of the urinary tract to be in the ventral part of the penis. One of the risk factors for hypospadias is a factor of poor lifestyle or air pollution that can be found in urban communities. Hypospadias can be treated through urethroplasty surgery. Post surgical pain will occur in a child. The steps to be taken to deal with this issue is to manage the pain in the child. The purpose of this paper is to describe nursing care in children with hypospadias. One of the interventions implemented is the distraction technique by playing animated cartoon videos as pain management for the child. The usage of distraction technique and pharmacological techniques for three days period decreased the pain rating scale from the 3 10 to 0 10, and the observation showed that the child also seemed to be calmed and laugh when there is a funny scene on an animated cartoon video. The authors suggest that hospitals provide facilities to perform distractions in children such as radio or tape recorders to play music, televisions to play animated videos or toys that can distract children, so that distractions can be performed according to the characteristics of pain and age of the child."

"[Hipospadia merupakan salah satu kelainan congenital pada penis yang paling sering terjadi, dengan angka kejadian 0.2-0.8% kasus di dunia. Prinsip dasar tehnik pembedahan hipospadia masih tetap sama dari tahun ke tahun, padahal terdapat banyak tehnik yang dapat digunakan namun belum ada penelitian yang membandingkan antara satu tehnik operasi dengan tehnik operasi lainnya. Untuk itu, kami mengumpulkan data dari para urolog di Indonesia untuk mengetahui hal tersebut, memberikan gambaran tehnik operasi hipospadia apa saja yang digunakan, dan bisa menjadi bahan pertimbangan urolog lainnya untuk mencoba tehnik operasi lainnya.MetodeDilakukan survey kepada ahli bedah urologi di seminar-seminar dan konferensi yang dilakukan di Indonesia dari tahun 2012-2013 dengan membagikan kuesioner mengenai tatalaksana operatif pada hipospadia distal dan proksimal. HasilTotal sebanyak 87 partisipan menyelesaikan kuesioner yang diberikan. Sebagian besar partisipan (61%) telah menjadi urolog selam kurang dari 5 tahun, dan kebanyakan bekerja di rumah sakit pemerintahan. Jumlah pasien hipospadia yang ditangani per tahunnya rata-rata 1-5 pasien (34.5%) dan usia tersering adalah 3-6 tahun (56.3%) dengan varian tersering yakni tipe midshaft penile (57.5%).Tehnik operasi pada tahap pembebasan kordae yang paling sering digunakan adalah dorsal placation (48.3%) dan dilakukan percobaan ereksi artificial dan turniket intraoperasi (79.3% dan 66%). Pada hipospadia distal, tehnik TIP merupakan yang paling sering digunakan (66.7%-88.5%) sementara sisanya memilih MAGPI, matthew atau onlay island flap. Untuk yang proksimal, beberapa urolog menggunakan TIP (16.1%-39.1%) sementara yang lainnya memilih onlay island flap, koyanagi, transverse preputial island flap, operasi dua tahap, dan cangkok bukal.Penggunaan kateter foley pada stenting daerah distal dan proksimal masih dilakukan oleh sebagian besar urolog setelah prosedur operasi selesai, seperempat responden melakukan sistostomi simultan dengan kateter foley. KesimpulanTren yang terkini dalam penatalaksanaan hipospadia di Indonesia masih bervariasi bergantung pada kebiasaan urolog. Hasil menunjukkan pendekatan yang berbeda- beda pada tehnik operasi hipospadia distal maupun proksimal, dan tidak sesuai juga dengan literature yang ada. Hal ini mungkin disebabkan karena faktor sosioekonomi, lingkungan, dan pengalaman pribadi.;Hypospadia is one of the most common congenital anomaly of the penis, ranging from to be 0,2 to 8.2% worldwide.The principles of hypospadia surgery remains the same throughout the years and there are many techniques of surgery which could be chosen but current practice in Indonesia have not yet been studied. With this in mind, we obtained data from urologist in Indonesia to provide an insight and hopefully be a source of discussions that may lead to a change of personal practice.MethodsA survey was conducted in seminars and conferences in Indonesia from 2012 to 2013 with a questionairre regarding repair of distal and proximal hypospadia Results A total of 87 participants completed the questionairre. Most of the participants (61%) had been a urologist for less than 5 years, and most worked in goverment university hospital.The number of patient encountered most was 1-5 patient per year (34,5%) and the age majority was 3-6 years old (56,3%) with the highest variant seen was midshaft penile (57,5%).Regarding technique of the operation, for chordee release most used dorsal plication (48,3%) and also performed artificial erection and tourniquet intra- operatively (79,3% and 66%). For distal repair, the tubularized incised plate (TIP) was the preferred technique (66,7% - 88,5%) while the remainder preferred MAGPI, matthew or onlay island flap. For proximal repair, some still preferred TIP (16,1% - 39,1%) while the remainder relied on onlay island flap, koyanagi, transverse preputial island flap, two-staged repair and buccal graft.The use of foley catheter for distal and proximal stenting post repair remains majority in the case of hypospadia, with less than a quarter performed also cystostomy simultaneously. ConclusionsThe current trend in the management of hypospadias in Indonesia still varies based on personal preferrence. The result also shows different approach for proximal and distal hypospadia even compared to the literature. This might be caused by socioeconomic, environmental or personal experience., Hypospadia is one of the most common congenital anomaly of the penis, ranging from to be 0,2 to 8.2% worldwide.The principles of hypospadia surgery remains the same throughout the years and there are many techniques of surgery which could be chosen but current practice in Indonesia have not yet been studied. With this in mind, we obtained data from urologist in Indonesia to provide an insight and hopefully be a source of discussions that may lead to a change of personal practice.MethodsA survey was conducted in seminars and conferences in Indonesia from 2012 to 2013 with a questionairre regarding repair of distal and proximal hypospadia Results A total of 87 participants completed the questionairre. Most of the participants (61%) had been a urologist for less than 5 years, and most worked in goverment university hospital.The number of patient encountered most was 1-5 patient per year (34,5%) and the age majority was 3-6 years old (56,3%) with the highest variant seen was midshaft penile (57,5%).Regarding technique of the operation, for chordee release most used dorsal plication (48,3%) and also performed artificial erection and tourniquet intra- operatively (79,3% and 66%). For distal repair, the tubularized incised plate (TIP) was the preferred technique (66,7% - 88,5%) while the remainder preferred MAGPI, matthew or onlay island flap. For proximal repair, some still preferred TIP (16,1% - 39,1%) while the remainder relied on onlay island flap, koyanagi, transverse preputial island flap, two-staged repair and buccal graft.The use of foley catheter for distal and proximal stenting post repair remains majority in the case of hypospadia, with less than a quarter performed also cystostomy simultaneously. ConclusionsThe current trend in the management of hypospadias in Indonesia still varies based on personal preferrence. The result also shows different approach for proximal and distal hypospadia even compared to the literature. This might be caused by socioeconomic, environmental or personal experience.]"

"Latar Belakang: Hipospadia mengenai 18,6 dari 10.000 angka kelahiran di Eropa pada tahun 2001 sampai dengan 2010. Pasien hipospadia ditatalaksana dengan pembedahan. Terjadinya pandemi menurunkan lama rawat inap pada pasien hipospadia, sehingga dapat berpengaruh terhadap terjadinya komplikasi. Tujuan: Penelitian ini bertujuan untuk menganalisis perbedaan lama rawat inap dan komplikasi pasca pembedahan hipospadia sebelum dan saat pandemi COVID-19. Metode: Penelitian ini merupakan penelitian observasional analitik dengan desain potong-lintang menggunakan dari data rekam medis pasien rawat inap pasca pembedahan hipospadia di RSCM yang memenuhi kriteria inklusi dan eksklusi. Sebanyak 152 subjek sebelum pandemi (1 Januari 2017 hingga 31 Desember 2018) dan 152 subjek saat pandemi (11 Maret 2020 hingga tanggal 31 Desember 2021). Uji statistik yang digunakan adalah uji T tidak berpasangan untuk lama rawat inap dan uji fishcer untuk komplikasi. Hasil: Rerata lama rawat inap pasca pembedahan pada sebelum pandemi Covid-19 adalah sebesar 4,611 hari dan rerata lama rawat inap pasca pembedahan pada saat pandemi Covid-19 sebesar 3,269 hari (p < 0,001) signifikan. Terdapat perbedaan rerata lama rawat inap sebelum dan saat pandemi Covid- 19. Hubungan antara pandemi Covid-19 dengan komplikasi secara keseluruhan (p = 1,000) tidak signifikan. Kesimpulan: Terdapat hubungan bermakna sebelum dan saat pandemi Covid-19 dengan lama rawat inap pasca tatalaksana pembedahan dan tidak terdapat hubungan bermakna antara sebelum dan saat pandemi Covid-19 dengan komplikasi.

---

Background: Hypospadias affected 18.6 out of 10,000 births in Europe from 2001 to 2010. Hypospadias patients are treated with disease. The occurrence of a pandemic reduces the length of stay in hypospadias patients, so it can influence the occurrence of complications. Objective: This study aims to analyze differences in length of stay and complications after stopping hypospadias before and during the COVID-19 pandemic. Method: This research is an analytical observational study with a cross-sectional design using medical record data from inpatients after hypospadias stenosis at RSCM who meet the inclusion and exclusion criteria. includes 152 subjects before the pandemic (1 January 2017 to 31 December 2018) and 152 subjects during the pandemic (11 March 2020 to 31 December 2021). The statistical tests used were the unpaired T test for length of stay and the Fishcer test for complications. Results: The average length of stay after surgery before the Covid-19 pandemic was 4,611 days and the average length of stay after surgery during the Covid-19 pandemic was 3,269 days (p < 0.001), which is significant. There is a difference in the average length of stay before and during the Covid-19 pandemic. The relationship between the Covid-19 pandemic and overall complications (p = 1,000) was not significant. Conclusion: There is a significant relationship before and during the Covid-19 pandemic with length of stay after surgical treatment and there is no significant relationship between before and during the Covid-19 pandemic and complications."

"Defisiensi enzim 5 alfa-reduktase tipe 2 (D5AR2) merupakan penyakit genetik, yang disebabkan gangguan konversi testosteron (T) menjadi dihidrotestosteron (DHT). Diagnosis D5AR2 pada umumnya ditegakkan dengan rasio T/DHT dan analisis DNA gen SRD5A2, namun rasio T/DHT sering tidak konklusif, sehingga diperlukan pemeriksaan alternatif dalam diagnosis D5AR2, dalam hal ini dipilih rasio metabolit 5β/5αsteroid urin yakni rasio etiokolanolon/androsteron (Et/An) urin karena telah dilaporkan oleh beberapa peneliti dan juga karena tersedia di Indonesia. Penelitian ini bertujuan untukmembandingkan akurasi rasio T/DHT dan Et/An urin dalam diagnosis penyandang dan pembawa sifat D5AR2. Selain itu mengetahui pola mutasi gen SRD5A2 dan hubungan genotipe-fenotipe. Studi deskriptif potong-lintang dilakukan untuk mengetahui pola mutasi gen SRD5A2 dan hubungan genotipe-fenotipe dilakukandi Lembaga Eijkman, Jakarta sejak Juli 2016–September 2018. Studi komparatif dilakukan untuk membandingkan akurasi rasio T/DHT (dilakukan di Laboratorium Terpadu FKUI) dan rasio Et/An urin (dilakukan di Laboratorium Kesehatan Daerah DKI Jakarta) dalam mendiagnosis penyandang dan pembawa sifat D5AR2, dilanjutkan dengan analisis kurva ROC (receiver operating characteristics) masing-masing rasio, dengan baku emas analisis DNA gen SRD5A2. Enam puluh enam subjek penyandang 46,XY DSD dan 95 subjek keluarga peyandang direkrut dalam penelitian ini. Hasil analisis DNA gen SRD5A2 membagi subjek penyandang 46,XY DSD menjadi 37 subjek penyandang D5AR2 dan 29 subjek bukan penyandang D5AR2, dan subjek keluarga menjadi 53 subjek pembawa sifat dan 42 subjek bukan pembawa sifat D5AR2. Rasio T/DHT tidak berbeda bermakna antara penyandang dan bukan penyandang D5AR2, dan juga tidak berbeda bermakna antara pembawa sifat dan bukan pembawa sifat D5AR2. Nilai AUC rasio Et/An urin dalam mendiagnosis penyandang D5AR2 adalah 79,7% (IK 95% 69,0–90,4%, p < 0,001). Dengan nilai titik potong >0,95 didapatkan sensitivitas rasio Et/An urin dalam diagnosis D5AR2 adalah 67,57% dan spesifisitas 86,21%. Dengan nilai titik potong >0,99 didapatkan sensitivitas rasio Et/An urin dalam mendiagnosis pembawa sifat D5AR2 adalah 67,92% dan spesifisitas73,81%. Kombinasi rasio Et/An urin subjek penyandang dan salah satu keluarga dekatnya meningkatkan perkiraan akurasi diagnostik menjadi sangat baik (AUC menjadi 84,1% (IK 95% 74,3–93,9%, p < 0,001), dengan sensitivitas sangat baik (89,19%), namun spesifisitas kurang baik (57,69%). Enam jenis mutasi baru dideteksi, yaitu c.34delGinsCCAGC, R50H, W136stop, G191R, F194I, I253V, dan 7 mutasi lain. Tidak ada hubungan nyata genotipe dan fenotipe.

---

The 5 alpha-reductase type 2 deficiency (5ARD2) is a genetic condition associated with impairment in conversion of testosterone (T) to dihydrotestosterone (DHT), leading to undervirilization in 46,XY individuals. Diagnosis of 5ARD2 is mainly established by T/DHT ratio and molecular analysis. Yet, the T/DHT ratio often yielded in conflicting results, and the available urinary ratio of etiocholanolone/androsterone (Et/An) was selected as an alternative test.

This study aimedto compare the accuracy of T/DHT and urinary Et/An ratios in diagnosing 5ARD2 cases and carriers and to elaborate the molecular characteristics of SRD5A2 gene in 5ARD2 cases and the genotype and phenotype correlations.

Descriptive and comparative cross-sectional studies were conducted at the Eijkman Institute, Jakarta in year 2016–2018. The accuracy of T/DHT and Et/An ratios were compared using ROC (receiver operating characteristics) curve analysis in the cases and carriers group with molecular analysis of SRD5A2 gene as the gold standard. The molecular characterization of SRD5A2 gene and genotype-phenotype correlations were described.

Sixty six 46,XY DSD subjects and 95 subjects of their family members, who gave written consent or parental approval were recruited. Thirty seven 5ARD2 cases and 29 control were identified in 46,XY DSD subjects, and 53 carriers and 42 control of family members were confirmed by molecular analysis of SRD5A2 gene. The T/DHT ratios were not different significantly in cases and carriers group, while the AUC (area under the curve) of urinary Et/An showed 79.7% (95% CI 69.0–90.4%, p < 0.001). After determining cutoff values for diagnosing cases (>0.95) and carriers (>0.99), the sensitivity and specificity of urinary Et/An ratio in cases groups were 67.57% and 86.21%, respectively, and in carrier groups 67.92% and 73.81%, respectively. Simultaneous urinary Et/An ratios of cases and one of their closed family members increased the diagnostic accuracy with AUC of 84.1% (95% CI 74.3–93.9%, p < 0,001) and sensitivity 89.19%, yet the specificity of only 57.69%. Six novel mutations (c.34delGinsCCAGC, R50H, W136stop, G191R, F194I, and I253V), and 7 other mutations, which were G34Fs, c.699-1 G>T, V89L, Y128C, N193S, R227Q, and g.5352+15 T>C, in the SRD5A2 gene were detected. There were no clear genotype-phenotype correlations found.

Conclusion: The diagnostic accuracy of urinary Et/An ratio was good in 5ARD2 cases and carriers, and the accuracy was very good if the urinary Et/An ratios of cases and their closed family members were combined. The T/DHT ratio was inaccurate in diagnosing 5ARD2 cases. Six new mutations were detected."

"Latar belakang : Asosiasi Gastroenterologi Indonesia melaporkan bahwa infeksi H. pylori di Indonesia telah mencapai 22,1% dari pasien dengan gejala dispepsia. Salah satu masalah dalam pengobatan infeksi H.pylori yaitu terdapatnya resistensi H.pylori terhadap antibiotik. Metronidazol telah dilaporkan menunjukkan resistensi terbesar 46,7% di Indonesia, dan sampai saat ini metronidazol masih digunakan sebagai terapi lini pertama. Peneliti sebelumnya telah melaporkan bahwa terdapatnya mutasi gen rdxA H. pylori dapat digunakan sebagai penanda resistensi metronidazol. Bentuk kokoid dari H. pylori sulit dideteksi oleh biakan. Alternatif uji lain yaitu menggunakan uji biologi molekuler yaitu deteksi mutasi menggunakan uji PCR diikuti dengan sekuensing DNA. Tujuan : Penelitian ini diharapkan dapat memberikan informasi baru tentang pengembangan uji resistensi H. pylori, menambah literatur sekuens unik gen rdxA H.pylori dan untuk menentukan mutasi gen rdxA H. pylori yang diprediksi berperan dalam resistensi H. pylori terhadap metronidazol. Metode : Penelitian ini bersifat eksploratif menggunakan 34 sampel blok parafin biopsi lambung yang telah dikonfirmasi mengandung DNA H.pylori pada uji real time PCR. Penelitian ini menggunakan uji nested PCR dan diikuti uji sekuensing DNA, kemudian dilanjutkan analisis bioinformatika yang terdiri dari analisis perubahan asam amino, homologi, filogenetik, konformasi protein dan penambatan molekuler (docking). Hasil : Berdasarkan hasil penelitian, dijumpai terdapatnya mutasi pada gen rdxA akibat insersi dua asam amino, substitusi, frameshift, dan ditemukan premature stop codon. Hasil analisis docking menunjukkan bahwa senyawa metronidazol kurang efektif terhadap H.pylori yang memiliki mutasi insersi dua asam amino, sedangkan H.pylori yang memiliki mutasi substitusi (tanpa insersi) menunjukkan afinitas yang lemah antara metronidazol dan gen rdxA H.pylori. Kesimpulan : Metode molekuler dapat menjadi uji alternatif untuk menguji resistensi H. pylori terhadap antibiotik. Telah ditemukannya sekuens unik berupa insersi dua asam amino yang belum ditemukan pada literatur lain, dapat menambah ilmu pengetahuan bagi para ilmuwan dibidang sains kedokteran. Keberadaan gen rdxA H.pylori yang bermutasi telah dibuktikan dapat menyebabkan resistensi terhadap metronidazol melalui analisa docking.

---

Background : The Indonesian Gastroenterology Association reports that H. pylori infections has reached 22.1% of patients with dyspeptic symptoms in Indonesia. One of the problems in the prevention and treatment of H. pylori infection is H. pylori resistance to some antibiotics as first-line therapy. Metronidazole has been reported to show the greatest resistance of 46.7% in Indonesia, and to date metronidazole is still used as first-line therapy. The presence of rdxA gene mutations in H. pylori isolates can be used as a marker of metronidazole resistance. The cocoid form of H. pylori is difficult to detect by culture. Another alternative test is to use molecular biology tests, namely the detection of mutations using the PCR test followed by DNA sequencing. Aim : This research is expected to provide new information about the development of H. pylori resistance tests, add to the unique sequences H.pylori rdxA gene literatur and to determine the H. pylori rdxA gene mutation plays a role in H. pylori resistance to metronidazole. Methods : This explorative study used 34 samples of gastric biopsy paraffin blocks that were confirmed that were confirmed to contain H. pylori DNA Indonesian strain in a real time PCR test. The sample was analyzed using a nested PCR test and followed by DNA sequencing test, and bioinformatics analysis consisting of amino acid changes, homology, phylogenetics, protein conformation and molecular docking. Result : In this study, the results showed that mutations were found in the rdxA gene sequence due to the insertion of two amino acids, substitution, frameshift, and found premature stop codon. The results of the docking analysis showed that the metronidazole compound was less effective against H. pylori which had insertion of two amino acids, whereas H. pylori which had substitution (without insertion) showed a weak affinity between metronidazole and the rdxA gene. Conclusion : Molecular method can be an alternative to test H. pylori resistance to antibiotics. The discovery of a unique sequence in the form of the insertion of two amino acids that have not been found in other literature, can increase knowledge for scientists in the field of medical science. The presence of the mutated H. pylori rdxA gene has been shown to cause resistance to metronidazole through docking analysis. "

"Mukopolisakaridosis tipe II MPS II atau Sindrom Hunter merupakan salah satu kelainan penyimpanan lisosomal yang disebabkan oleh mutasi atau perubahan susunan basa nitrogen pada gen Iduronat 2-Sulfatase gen IDS. Mutasi tersebut dapat terjadi di berbagai lokasi ekson yang berbeda. Penelitian ini bertujuan untuk mengetahui adanya mutasi yang terjadi pada ekson 2 dan 5 gen IDS pada penderita MPS II, khususnya di Indonesia. Analisis dilakukan dengan menggunakan 9 sampel DNA penderita MPS II asal Indonesia dan 50 kontrol yang terdiri atas 25 individu normal berjenis kelamin laki-laki maupun perempuan. Analisis dilakukan dengan melewati tahapan isolasi DNA, amplifikasi Polymerase Chain Reaction PCR, visualisasi elektroforesis dan sekuensing. Hasil penelitian menunjukkan bahwa gen IDS dari keseluruhan sampel yang digunakan berhasil dianalisis namun tidak ditemukan adanya mutasi yang terjadi pada daerah ekson 2 dan 5 penderita MPS II di Indonesia.

---

Mucopolysaccaridosis Type II MPS II or Syndrome Hunter is one of lysosomal storage disorder caused by mutation or changes of nitrogen base arrangement in IDS gene. This mutation can occur in various different exon locations. This research is aimed to recognize the presence of mutation that occur at exon 2 and 5 of gen IDS of MPS II patient, especially in Indonesia. Analysis was conducted by using 9 DNA MPS II patient samples of Indonesia origin and 50 controls that consists of 25 normal individual of male or female. Analysis was done by going through steps of DNA isolation, amplification by Polymerase Chain Reaction PCR, electrophoresis visualization, and sequencing. Research result shows that IDS gene from the whole samples used were successfully analysed, however there is no mutation found that occurred at exon 2 and 5 MPS II patients in Indonesia."

"Peningkatan atensi terhadap penggunaan Screen Time orang tua maupun anak sudah menjadi bagian integral dalam kehidupan. Sayangnya, anak usia sekolah saat ini lebih sering beraktivitas dengan hanya menatap layar selama waktu yang lama. Hal itu, membuat anak terpapar layar dengan durasi yang melebihi rekomendasi sehingga menimbulkan efek negatif terhadap tumbuh kembang anak. Penelitian ini bertujuan untuk melihat gambaran Screen Time dan mengidentifikasi hubungan lama Screen Time dengan perkembangan sosial. Penelitian menggunakan pendekatan cross-sectional pada 285 responden orang tua yang sesuai dengan kriteria inklusi melalui metode stratified sampling. Instrumen SCREENS-Q untuk mengukur Screen Time dan Strength and difficulties Questionnaire (SDQ) mengukur perkembangan sosial. Hasil penelitian menunjukkan 74,4% anak mengalami Screen Time berlebihan dan terdapat hubungan antara lama Screen Time dengan setiap sub-skala perkembangan sosial (p value <0,05). Peneliti merekomendasikan adanya sosialisasi dan kerjasama pihak tenaga kesehatan dengan orang tua untuk mencari solusi bersama mengatasi permasalahan ini.

---

Increasing attention to the use of Screen Time for parents and children has become an integral part of life. Unfortunately, today's school-age children are more active by just staring at the screen for a long time. This causes children to be exposed to screens for a duration that exceeds the recommendations, which has a negative effect on children's development. This study aims to look at the description of Screen Time and identify the relationship between long Screen Time and social development. The study used a cross-sectional approach to 285 parents who fit the inclusion criteria through a stratified sampling method. The SCREENS-Q instrument to measure Screen Time and the Strength and Difficulty Questionnaire (SDQ) to measure social development. The results showed that 74.4% of children experienced excessive Screen Time and there was a relationship between the length of Screen Time and each social development sub-scale (p value <0.05). Researchers recommend socialization and collaboration between health workers and parents to find solutions together to overcome this problem."