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"Hiperplasia adrenal kongenital (HAK) adalah gangguan yang ditandai dengan defek pada enzim jalur steroidogenesis adrenal. Lebih dari 90% disebabkan mutasi pada CYP21A2 yang mengkode enzim 21-hidroksilase (21-OH). Monitoring tata laksana pasien HAK cukup sulit dicapai dengan menjaga keseimbangan antara overtreatment dan undertreatment.Penelitian bersifat cross sectional dilakukan di RSCM berlangsung selama 7 bulan (Juni-Desember 2020). Pemilihan sampel dilakukan dengan consecutive sampling dengan total 142 sampel. Sampel pasien HAK sebanyak 71 pasien, serta pemilihan sampel kontrol dilakukan dengan matching jenis kelamin dan usia. Kelompok HAK dilakukan pemeriksaan kadar 17-hidroksiprogesteron (17-OHP) serta androsteron, etiokolanolon urin dan rasio androsteron/etiokolanolon urin (A/E). Uji korelasi dilakukan antara androsteron, etiokolanolon, rasio A/E dengan 17-OHP. Kelompok kontrol dilakukan pemeriksaan androsteron, etiokolanolon urin dan rasio A/E. Hasil kedua kelompok dilakukan komparasi.Dari 71 kelompok HAK dan 71 kelompok kontrol mempunyai karakteristik dasar yang sebanding. Kadar androsteron kelompok HAK dibandingkan dengan kelompok kontrol berbeda bermakna (683,89(29,42-61061,43) vs 123,97(30,16- 16463,05) ng/mL;p<0,001). Kadar etiokolanolon kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (235,88(12,77-78446,65) vs 70,96(12,61-17332,62)ng/mL;p<0,001). Rasio A/E kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (2,31(0,37-40,12) vs 1,99(0,52- 5,45); p0,003). Kadar androsteron, etiokolanolon, rasio A/E mempunyai korelasi positif dengan kadar 17-OHP (r=0,505; r=0,367; r=0,313).Kesimpulan: Androsteron, etiokolanolon dan rasio A/E mempunyai kadar yang lebih tinggi pada pasien HAK. Androsteron mempunyai korelasi sedang, etiokolanolon dan rasio A/E mempunyai korelasi lemah terhadap 17-OHP.

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Congenital adrenal hyperplasia (CAH) is a disorder characterized by defects in one of the enzymes of the adrenal steroidogenesis pathway. More than 90% of cases are due to mutations in CYP21A2, the gene coding for 21-hydroxylase (21-OH) enzyme. Treatment monitoring in CAH patients is quite difficult to achieve due to fine balance of overtreatment and undertreatment.

Cross sectional study was conducted in RSCM for 7 months (June-December 2020). Consecutive sampling was used with total 142 samples. There were 71 patients CAH were included in this study. Control samples were selected by matching age and sex. In CAH group, 17-hydroxyprogesterone (17-OHP), urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were measured. Correlations were measured between androsterone, etiocholanolone, ration A/E with 17-OHP. In control sample urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were also measured. These results were compared between two groups.

In 71 CAH group and 71 control group had almost same characteristics. Androsterone level in CAH group had a significant different compared to the control group (683.89(29.42-61061.43) vs 123.97(30.16-16463.05) ng/mL;p<0.001). Etiocholanolone level in CAH group had a significant different compared to the control group (235.88(12.77-78446.65) vs 70.96(12.61- 17332.62)ng/mL; p<0.001). Ratio A/E n CAH group had a significant different compared to the control group (2.31(0.37-40.12) vs 1.99(0.52-5.45); p=0.003). Androsterone, etiocholanolone and ratio A/E had positive correlation with 17-OHP level (r=0.5050; r=0.367; r=0.313).

Conclusions: Androsterone, etiocholanolone, and ratio A/E had higher level in CAH subjects. Androsterone had intermediate correlation with 17-OHP, meanwhile etiocholanolone and ratio A/E had weaker correlation."

"Aplikasi Perawatan diri Diabetes Melitus Tipe 1 (DMT1) merupakan aplikasi yang menyediakan kegiatan harian yang diperlukan untuk pengendalian kadar glukosa darah, (GD) anak DMT1, agar kadar GD berada pada kondisi normal atau mendekati normal. Aplikasi dikembangkan berdasarkan permasalahan tingginya kasus KAD, kurangnya pemahaman orangtua anak DMT1 tentang pengendalian glukosa darah, dan terbatasnya jumlah edukator DMT1. Edukasi yang tepat dan berkesinambungann sangat diperlukan dalam pengelolaan DMT1. Edukasi melalui teknologi internet menjadi pilihan terbaik sebagai salah satu upaya penyelesaian masalah. Penelitian ini bertujuan untuk menghasilkann aplikasi yang valid dan menguji coba dampak  penggunaan aplikasi perawatan diri terhadap resiliensi anak DMT1. Aplikasi ini diberi nama Carcohydrate Intake and Calory Output (CICO) Count yang menyediakan aktivitas utama menghitung kebutuhan karbohidrat (KH) dan luaran kalori harian dari anak DMT1 dan dipadukan dengan permainan pohon terimakasih (gratitude intervention). Penelitian dilakukan selama 15 bulan, berupa pengembangan aplikasi yang diuji validitasnya oleh 7 pakar. Hasil uji validitas internal didapatkan nilai CVi 0,97 (valid, >0,8). Tahap berikutnya dilakukan ujicoba aplikasi kepada empat (4) responden orangtua anak DMT1 untuk melihat kesesuaian isi aplikasi dengan kebutuhan penggguna. Hasil ujicoba menunjukkan kepuasan penguna mencapai 75%. Tahap penelitian akhir adalah ujicoba dampak aplikasi terhadap resiliensi anak DMT1. Pada kelompok kontrol dan intervensi dilakukan pengukuran kadar glukosa darah secara berulang setiap pekan selama empat pekan. Responden penelitian adalah 24 orang tua anak DMT1. Data dianalisis menggunakan uji perbedaan dengan Mann Whitney korelasi Pearson dan Spearman, serta GLM repeated measure. Hasil penelitian menunjukkan adanya perbedaan kadar glukosa darah antara kelompok kontrol dan intervensi pada akhir pekan keempat  (= 0.06, p<0,1), tidak ada perbedaan skor resiliensi antara kelompok kontrol dan intervensi (p=0,531). Berdarakan uji korelasi didapatkan faktor dukungan emosional keluarga  (r=0,380, p<0,1) dan gratitude (r= -0,509, p<0,1) berkorelasi dengan kadar glukosa darah praprandial. serta faktor stress (r= -0,610, p<0,1), koping avoidance (r= -0,289, p<0,1),  koping emotional (r= - 0,489, p<0,1), koping distance (r=0,285, p<0,1), dan dukunngan  emosional keluarga (r= 0,386, p<0,1) berkorelasi dengan resiliensi anak DMT1.

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The Type 1 Diabetes Mellitus (T1D) self-care application is an application that accomodates day-to-day activities  for controlling  blood glucose of children with T1D into a normal or near to normal levels The application was developed to respond to the current situations, including  high number of Diabetic Ketoacidosis (DKA) cases,  lack of understanding of parents of  children with T1D regarding  blood glucose control, and limited number of T1D educators. proper and continuous education are required in the course of  T1D  management.  Education through internet technology is the best approach for the problem solutions 

This study aimed to create  a valid application and examine  the impact of  T1D self-care applications on the level of resilience of children with  T1D  This application is so-called as Carbohydrate Intake and Calorie Output (CICO) count which enables to calculate  the carbohydrate (CH) needs, and daily caloric output of T1D children, and these are integrated with a gratitude intervention game.

The study was conducted for 15 months, in the form of application development, and has been tested for the validity by seven experts. The internal validity test showed  a CVi value was 0.97 (valid,> 0.8). The next step was to examine the application of DMT1 in parents to evaluate whether the contents of the application was compatible with the needs of users. The results showed 75% user satisfaction. The final step was tested  the impact of application on the resilience of children with T1D. Both the control  and the intervention groups was measured for their  blood glucose levels and repeated weekly in one month period. The total respondents were 24 parents of T1D children. The data was analyzed, used  the difference test with Mann Witney, Pearson, and Spearman correlation, and GLM repeated measure.

The results showed that there were differences in blood glucose levels between the control and intervention groups at the end of the fourth week (= 0.06, p <0.1), and there were no differences in resilience scores between the control and intervention groups (p = 0.531). Based on the correlation test, family emotional support factors (r = 0.380, p <0.1) and gratitude (r = -0.509, p <0.1) correlated with pre-prandial blood  glucose  levels.  The stress factors (r = -0,610, p <0,1), coping avoidance (r = -0,289, p <0,1), emotional coping (r = - 0,489, p <0,1), coping distance (r = 0.285, p <0.1), and family emotional support (r = 0.386, p <0.1) correlated with the resilience of T1D children."

"Human Milk Oligosaccharides (HMO), adalah kelompok senyawa ketiga terbanyak dalam ASI dan berhubungan dengan pertumbuhan bayi. Studi prospektif longitudinal dilakukan pada 120 pasangan ibu-bayi berusia 0 – 4 bulan dari RS Kemang Medical Care, Puskesmas Cilandak, Mampang, Pasar Minggu dan Tebet di Jakarta Selatan antara Agustus 2021 – Mei 2022.Analisis gen dilakukan dengan Next Generation Sequencing (NGS) dan Sanger. Profil HMO (2'FL, LNFP I, LNT, LNnT, 3'SL dan 6'SL) diperiksa pada usia 0, 2, 4 bulan. Weight for age zscore (WAZ), weight for length z-score (WLZ), dan weight velocity diperiksa setiap bulan. Penelitian ini menggunakan uji korelasi Pearson dan Spearman, uji Anova untuk pengukuran berulang, Friedman tes, regresi logistik dan model linier umum untuk pengukuran berulang dengan nilai p <0,05 dianggap signifikan secara statistik.Sekretor positif dalam penelitian ini sebanyak 58,3% dan 41,7% sebagai Sekretor lemah. Prevalensi Lewis positif sebesar 85% dan 15% adalah Lewis negatif, sama dengan prevalensi Group 1 (Se+Le+) dan Grup 3 (Se+Le-). Kkonsentrasi 2’FL pada kelompok Se+Leberkorelasi negatif dengan WAZ dan berkorelasi positif dengan LNFP I (r0,478) usia dua bulan (r-0,294). 2’FL pada ibu Sekretor positif berkorelasi negatif dengan WAZ bulan kedua (r-0,294). 2’FL, LNFP I dan LNT memiliki hubungan positif dengan indikator pertumbuhan berat badan.

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Human Milk Oligosaccharides (HMOs) are the third most abundant group of compounds in human milk. HMOs can modulate the immune system of the intestinal mucosa, modulate infection and allergy, and link to growth in early infancy. A prospective longitudinal study was conducted among 120 mother-infant pairs aged 0 – 4 months from Kemang Medical Care Women and Children Hospital, Public Health Center in Cilandak, Mampang, Pasar Minggu, and Tebet in South Jakarta between Agustus 2021 – May 2022. The gene analysis for the Secretor and Lewis status of the mother were performed by usung Targeted Next Generation Sequencing (NGS) and Sanger at baseline. The HMOs profiles (2'FL, LNFP I, LNT, LNnT, 3'SL, and 6'SL), breast milk calories, and fat were examined at 0, 2, and 4 months. Weight growth indicators, namely weight for age z-score, weight for length z-score (WAZ, WLZ, and weight velocity), infection episode, and mother's body mass index (BMI) were examined every month. Data were analyzed using Pearson or Spearman correlation test (correlation coefficient), general linear model for repeated measures ANOVA test and Friedman test (mean difference between and within groups, respectively) and logistic regression unadjusted OR (association between dependent and independent variables), with a p-value <0.05 considered statistically significant.

The positive and weak Secretor mothers were 58.3% and 41.7%, respectively. The proportion of Lewis positive and Se+LE+ groups was 85%, while 15% were in Lewis negative and Se+Legroup. At baseline, 2'FL concentration among Se+Le- mothers were negatively correlated with WAZ and LNFP I (r0.478) concentration was positively correlated with infants' WLZ. The 2'FL concentration among Secretor mothers was negatively correlated with infants' WAZ in the second month (r-0.294). Mothers with high 2'FL levels increased the standard deviation of infants' WLZ in the fourth month. Infants' weight velocities were higher among high LNT and 3'SL levels in the second month; and in high 2'FL and LNFP I mothers in the fourth month. HMOs profile (2’FL LNT, LNFP I and 3’SL) of the lactating mothers have a positive relationship with weight growth indicator and innovative intervention to improve HMOs concentration among mothers should be consider as one of the ways to improve infants growth."