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Abstrak :
Latar belakang: Pasien Talasemia Mayor (TM) anak menderita defisiensi nutrisi karena asupan nutrisi yang tidak mencukupi. Penghindaran makanan kaya zat besi seringkali bersamaan dengan pembatasan asupan protein. Asupan mikronutrien termasuk magnesium lebih rendah dibandingkan anak normal. Fungsi otot lebih awal terganggu akibat defisiensi nutrisi daripada massa otot. Penilaian massa otot dan Hand Grip Strength (HGS) menjadi penting untuk mengevaluasi status gizi. Hingga saat ini belum ada penelitian di Indonesia yang mengevaluasi hubungan antara HGS dengan asupan kalori, protein dan magnesium, LILA dan massa otot pasien anak TM. Metode: Penelitian dengan desain studi potong lintang melibatkan 70 pasien TM anak, berusia 6-18 tahun di Pusat Talasemia RSUPN Cipto Mangunkusumo. Status gizi dievaluasi disertai pengukuran lingkar lengan atas (LILA). Asupan kalori, protein dan magnesium diperoleh melalui metode analisis diet semi-kuantitatif Food Frequency Questionnaires (FFQ) dan Magnesium FFQ (MgFFQ). Kadar Mg serum dinilai dengan menggunakan metode enzimatik-kalorimetri. Massa otot diukur menggunakan Bioelectrical Impedance Analysis (BIA) dan HGS dinilai menggunakan Dinamometer tangan Jamar Hasil: Status gizi berdasarkan LILA/U sebagian besar berstatus gizi baik 42,9% dan malnutrisi 57,1% yakni gizi kurang (30,0%), gizi buruk (25,7%), dan obesitas (1,4%). Rerata kecukupan energi pada anak TM lelaki 100% (SB 17), sedangkan anak perempuan sebesar 112% (SB 27). Rerata asupan protein dan magnesium pada kedua kelompok lebih tinggi dibanding kebutuhan AKG. HGS berkorelasi kuat dengan massa otot (r=0,82), berkorelasi sedang dengan LILA (r=0,60), dan berkorelasi lemah dengan asupan kalori (r=-0,27), protein (r=-0,33) dan magnesium (r=-0,23), serta kadar magnesium (r=0,26). Hipermagnesemia dijumpai pada 23% subyek penelitian. Simpulan: Lebih dari separuh anak Talasemia mengalami malnutrisi walaupun asupan cukup. HGS berkorelasi dengan asupan nutrisi, LILA, dan massa otot. ......Background: Pediatric Thalassemia Major (TM) patients suffer from nutritional deficiencies due to insufficient nutritional intake. Avoidance of iron-rich foods often coincides with limiting protein intake. Micronutrient intake including magnesium is lower than in normal children. Muscle function is impaired earlier due to nutritional deficiencies than muscle mass. Assessment of muscle mass and Hand Grip Strength (HGS) is important for evaluating nutritional status. Until now there has been no research in Indonesia that evaluates the relationship between HGS and calorie, protein, and magnesium intake, LILA, and muscle mass in pediatric TM patients. Methods: This research with a cross-sectional study design involved 70 pediatric TM patients, aged 6-18 years at the Thalassemia Center of RSUPN Cipto Mangunkusumo. Nutritional status is evaluated by measurement of mid-upper arm circumference (MUAC). Calorie, protein, and magnesium intake was obtained through semi- quantitative dietary analysis methods Food Frequency Questionnaires (FFQ) and Magnesium FFQ (MgFFQ). Serum Mg levels were assessed using the enzymatic calorimetric method. Muscle mass was measured using Bioelectrical Impedance Analysis (BIA) and HGS was assessed using a Jamar hand dynamometer. Results: Nutritional status based on LILA/U was mostly good nutritional status 42.9% and malnutrition 57.1%, namely undernutrition (30.0%), poor nutrition (25.7%), and obesity (1.4%). The average energy adequacy for TM boys is 100% (SD 17), while for girls it is 112% (SD 27). The average intake of protein and magnesium in both groups was higher than the RDA requirements. HGS is strongly correlated with muscle mass (r=0.82), moderately correlated with LILA (r=0.60), and weakly correlated with calorie intake (r=-0.27), protein (r=-0.33), and magnesium (r=-0.23), as well as magnesium levels (r=0.26). Hypermagnesemia was found in 23% of study subjects. Conclusion: More than half of Thalassemia children experience malnutrition despite adequate intake. HGS correlates with nutritional intake, MUAC, and muscle mass.

Abstrak :
Human milk oligosaccharides (HMO) adalah karbohidrat yang terdiri dari 3–10 monosakarida dan tidak dapat dicerna oleh manusia. Fungsi HMO adalah prebiotik untuk mikrobiota usus. Metabolit yang dihasilkan mikrobiota adalah asam lemak rantai pendek (short chain fatty acid/SCFA). Sintesis HMO ditentukan oleh enzim fukosiltransferase 2 (FUT2) dan fukosiltransferase 3 (FUT3), yang disandi gen FUT2 dan FUT3. Polimorfisme gen FUT2 menyebabkan perbedaan HMO pada ASI. Ibu dengan kadar 2’fukosillaktosa (2’FL) ≥ 50 mg/L disebut ibu sekretor. Proporsi ibu sekretor bervariasi, karena polimorfisme gen FUT2 berbeda antar ras. Proporsi sekretor di Eropa > 80%, namun belum ada data di Indonesia. Penelitian ini bertujuan menganalisis proporsi sekretor dan polimorfisme gen FUT2, serta profil SCFA berdasarkan pasangan genotipe ibu-bayi. Penelitian menggunakan desain potong lintang, dilakukan di RSIA Bunda selama bulan Desember 2021–Juli 2022. Subjek penelitian adalah ibu berusia minimal 18 tahun, menyusui eksklusif, dan sehat. Ibu dengan ras Kaukasia di atas 2 generasi dieksklusi. Bayi dari ibu yang memenuhi kriteria inklusi automatis menjadi subjek penelitian dan dieksklusi bila bayi pernah mendapat antibiotik. Pemeriksaan HMO dilakukan saat bayi berusia 2–5 minggu, sedangkan SCFA feses bayi saat usia 4 minggu. Sekuensing coding region FUT2 dilakukan pada ibu dan bayi. Sebanyak 120 pasangan ibu-bayi memenuhi kriteria inklusi dengan proporsi ibu fenotipe sekretor 65,8% dan genotipe sekretor 65,8%. Hubungan antara genotipe FUT2 dan kadar 2’FL bermakna. Penelitian ini menemukan varian baru c.851C>G yang bersifat merusak berdasarkan prediksi in silico. Berdasarkan genotipe FUT2, diusulkan nilai ambang baru 2’FL 425,9 mg/L dengan nilai sensitivitas 98,7% dan spesifisitas 100%. Tidak terdapat hubungan antara proporsi relatif asetat, propionat, butirat dan genotipe ibu, genotipe bayi, maupun pasangan genotipe ibu-bayi. ......Human milk oligosaccharides (HMO) are complex carbohydrates consisting of 3–10 monosaccharides which is undigestible to human. HMO acts as a prebiotic for gut microbiota, which produce short chain fatty acid (SCFA). The synthesis of HMO is determined by the activity of fucosyltransferase 2 (FUT2) and fucosyltransferase 3 (FUT3) enzymes, which are encoded by the FUT2 and FUT3 genes. Polymorphisms of the FUT2 gene result in different secretor status. Mothers with 2'-fucosyllactose (2'FL) level of ≥ 50 mg/L are referred to as secretor. The proportion of secretor varies worldwide due to FUT2 polymorphisms among races. The proportion of secretor in Europe is generally > 80%, but there is no data on secretor status in Indonesia. Thus, baseline data about secretor phenotype and genotype status in Indonesia is needed. This study aimed to analyze the proportion of secretor and FUT2 gene polymorphism in Indonesia, as well as the stool SCFA profile based on the mother-infant dyad genotype. This was a cross-sectional study conducted at Bunda Mother and Child Hospital from December 2021 to July 2022. The study subjects were healthy mothers aged at least 18 years, exclusively breastfeeding. Mothers with Caucasion ancestor from two generations above were excluded. Infants from eligible mothers were automatically included as study subjects but excluded if they had history of antibiotic administration. Breastmilk samples were obtained at infant’s age 2–5 weeks old, while infant’s stool at 4 weeks old. Sequencing of the entire coding region of FUT2 was performed for mothers and infants. A total of 120 mother-infant dyads met the eligibility criteria. The proportion of secretor mother was 65.8%. Secretor genotypes were found in 65.8% of mothers. There was a significant association between secretor genotype and 2’FL level. A novel variant was identified, c.851C>G, which showed deleterious effect based on in silico analysis. A new threshold value of 425.9 mg/L for 2'FL is proposed, with 98.7% sensitivity and 100% specificity. There was no significant relationship between the relative proportion of acetate, propionate, butyrate, and valerate among the mother-infant’s genotype dyads.

Abstrak :
Latar belakang: Pasien Talasemia Mayor (TM) anak menderita defisiensi nutrisi karena asupan nutrisi yang tidak mencukupi. Penghindaran makanan kaya zat besi seringkali bersamaan dengan pembatasan asupan protein. Asupan mikronutrien termasuk magnesium lebih rendah dibandingkan anak normal. Fungsi otot lebih awal terganggu akibat defisiensi nutrisi daripada massa otot. Penilaian massa otot dan Hand Grip Strength (HGS) menjadi penting untuk mengevaluasi status gizi. Hingga saat ini belum ada penelitian di Indonesia yang mengevaluasi hubungan antara HGS dengan asupan kalori, protein dan magnesium, LILA dan massa otot pasien anak TM. Metode: Penelitian dengan desain studi potong lintang melibatkan 70 pasien TM anak, berusia 6-18 tahun di Pusat Talasemia RSUPN Cipto Mangunkusumo. Status gizi dievaluasi disertai pengukuran lingkar lengan atas (LILA). Asupan kalori, protein dan magnesium diperoleh melalui metode analisis diet semi-kuantitatif Food Frequency Questionnaires (FFQ) dan Magnesium FFQ (MgFFQ). Kadar Mg serum dinilai dengan menggunakan metode enzimatik-kalorimetri. Massa otot diukur menggunakan Bioelectrical Impedance Analysis (BIA) dan HGS dinilai menggunakan Dinamometer tangan Jamar. Hasil: Status gizi berdasarkan LILA/U sebagian besar berstatus gizi baik 42,9% dan malnutrisi 57,1% yakni gizi kurang (30,0%), gizi buruk (25,7%), dan obesitas (1,4%). Rerata kecukupan energi pada anak TM lelaki 100% (SB 17), sedangkan anak perempuan sebesar 112% (SB 27). Rerata asupan protein dan magnesium pada kedua kelompok lebih tinggi dibanding kebutuhan AKG. HGS berkorelasi kuat dengan massa otot (r=0,82), berkorelasi sedang dengan LILA (r=0,60), dan berkorelasi lemah dengan asupan kalori (r=-0,27), protein (r=-0,33) dan magnesium (r=-0,23), serta kadar magnesium (r=0,26). Hipermagnesemia dijumpai pada 23% subyek penelitian. Simpulan: Lebih dari separuh anak Talasemia mengalami malnutrisi walaupun asupan cukup. HGS berkorelasi dengan asupan nutrisi, LILA, dan massa otot. ......Background: Pediatric Thalassemia Major (TM) patients suffer from nutritional deficiencies due to insufficient nutritional intake. Avoidance of iron-rich foods often coincides with limiting protein intake. Micronutrient intake including magnesium is lower than in normal children. Muscle function is impaired earlier due to nutritional deficiencies than muscle mass. Assessment of muscle mass and Hand Grip Strength (HGS) is important for evaluating nutritional status. Until now there has been no research in Indonesia that evaluates the relationship between HGS and calorie, protein, and magnesium intake, LILA, and muscle mass in pediatric TM patients. Methods: This research with a cross-sectional study design involved 70 pediatric TM patients, aged 6-18 years at the Thalassemia Center of RSUPN Cipto Mangunkusumo. Nutritional status is evaluated by measurement of mid-upper arm circumference (MUAC). Calorie, protein, and magnesium intake was obtained through semi- quantitative dietary analysis methods Food Frequency Questionnaires (FFQ) and Magnesium FFQ (MgFFQ). Serum Mg levels were assessed using the enzymatic calorimetric method. Muscle mass was measured using Bioelectrical Impedance Analysis (BIA) and HGS was assessed using a Jamar hand dynamometer. Results: Nutritional status based on LILA/U was mostly good nutritional status 42.9% and malnutrition 57.1%, namely undernutrition (30.0%), poor nutrition (25.7%), and obesity (1.4%). The average energy adequacy for TM boys is 100% (SD 17), while for girls it is 112% (SD 27). The average intake of protein and magnesium in both groups was higher than the RDA requirements. HGS is strongly correlated with muscle mass (r=0.82), moderately correlated with LILA (r=0.60), and weakly correlated with calorie intake (r=-0.27), protein (r=-0.33), and magnesium (r=-0.23), as well as magnesium levels (r=0.26). Hypermagnesemia was found in 23% of study subjects. Conclusion: More than half of Thalassemia children experience malnutrition despite adequate intake. HGS correlates with nutritional intake, MUAC, and muscle mass.

Abstrak :
Malnutrisi sejak pembuahan hingga usia 2 tahun dapat menimbulkan gangguan otak, yang memengaruhi kemampuan kognitif, kesehatan fisik dan produktivitas anak di masa depan. Pada bayi malnutrisi umumnya disebabkan kesalahan pemberian makanan pendamping ASI (MPASI). Peran Dokter terutama dokter spesialis anak untuk memberikan edukasi kepada ibu mengenai praktik pemberian MPASI yang benar sangat diperlukan. Perlu modul edukasi yang dapat digunakan untuk memberikan konseling kepada ibu. Penelitian ini menggunakan desain penelitian mixed method dengan model eksploratori sekuensial yang terdiri atas tiga tahap penelitian. Tahap pertama studi kualitatif untuk penyusunan modul ABC-MPASI, diikuti dengan studi kuantitatif tahap I dan II. Penelitian ini dilakukan pada bulan Februari 2019–Juli 2021. Studi kualitatif penyusunan modul dilakukan dengan studi pustaka dan telaah pakar I, II dan III. Telaah pakar I menggunakan metode Delphi 2 putaran, wawancara mendalam, dilanjutkan dengan telaah pakar II menggunakan metode diskusi grup. Telaah pakar III dilakukan dengan metode wawancara mendalam dengan ahli dan target audiens. Dari studi kualitatif dihasilkan modul ABC-MPASI-Press dan ABC-MPASI- Vid. Selanjutnya modul yang dihasilkan diujicobakan dalam penelitian tahap I. Penelitian tahap I dilakukan dengan desain Randomized Control Trial, terdiri atas 3 kelompok subjek penelitian. Digunakan metode cluster sampling untuk membandingkan efektivitas modul yang dihasilkan (modul ABC-MPASI-Vid dan ABC-MPASI-Press) dibandingkan dengan kontrol (hanya mendapatkan buklet KIA). Penelitian tahap II menggunakan desain one group eksperimental pre dan post untuk menilai efektivitas modul ABC-MPASI-Vid dalam meningkatkan pengetahuan dan perilaku ibu, asupan makan bayi dan pertumbuhan bayi. Didapatkan hasil modul ABC-MPASI-Vid dan ABC-MPASI-Press dapat meningkatkan pengetahuan ibu mengenai praktik MPASI lebih baik dibandingkan buklet KIA, namun modul ABC-MPASI-Vid lebih efektif dalam meningkatkan perilaku ibu. Intervensi dengan modul ABC-MPASI-Vid tidak dipengaruhi oleh tingkat pendidikan ibu. Peningkatan pengetahuan dan perilaku ibu meningkatkan asupan makan bayi berdasarkan perbaikan parameter Minimum Di- etary Diversity (MDD), Minimum Meal Frequency (MMF) dan Minimum Acceptable Diet (MAD) serta perbaikan asupan kalori, protein dan lemak pada kunjungan akhir pasca edukasi. Peningkatan antropometri secara bermakna dilihat dari tren pertumbuhan bayi dengan menilai weight increment dan length increment bayi pasca edukasi selama 3 bulan pemantauan. Disimpulkan intervensi dengan modul ABC-MPASI-Vid dan ABC-MPASI-Press dapat meningkatkan pemahaman materi MPASI dan pengetahuan ibu mengenai praktek MPASI yang benar. Modul ABC-MPASI-Vid lebih efektif dalam meningkatkan perilaku ibu dalam praktek pemberian MPASI yang benar dan dapat digunakan oleh ibu dengan berbagai latar belakang tingkat pendidikan. Intervensi dengan modul ABC-MPASI-Vid dapat meningkatkan asupan MPASI bayi dari segi jumlah asupan protein dan energi, perbaikan komposisi asupan MPASI terutama pemberian lemak dan zat besi, dan peningkatan persentase bayi yang memenuhi krite- rian MDD, MMF dan MAD. Bayi yang diasuh oleh ibu yang mendapatkan intervensi edukasi dengan modul ABC-MPASI-Vid memiliki perubahan bermakna tren pertumbuhan normal yang dinilai dengan weight increment dan length increment (nilai p = 0,015) dan penurunan bayi dengan nilai WI dan LI abnormal sebesar 22,9% pada periode sebelum intervensi ke periode setelah intervensi. ......Malnutrition occurring during the critical period of children's growth may contribute to disturbances in the brain, affecting their future cognitive abilities, physical health, and productivity; and is generally caused by errors in complementary feeding practice. The role of physicians, especially pediatricians, is to provide education to mothers regarding the correct complementary feeding practice to overcome this problem. This research assessed the need for a practical educational module for complementary feeding practice to provide counseling to mothers from various backgrounds. This study was carried out from February 2019–July 2021, utilizing a mixed-methods design and a sequential exploratory model consisting of three research stages. The first research stage is a qualitative study for the preparation of the complementary feeding practice module, followed by two quantitative studies. The qualitative study was carried out using a literature study, preliminary research, and three experts panels; with the latter applying the 2-round Delphi method, focus group discussion, and in-depth interviews with experts and the target audience. From the qualitative study, a booklet (ABC-MPASI-Press) and video (ABC-MPASI- Vid) modules were formulated, which were further studied during phase I of the quantitative research using a randomized control trial design with 3 intervention groups. This study aimed to determine the effectiveness of the formulated modules in comparison with the control group (only receiving the Maternal and Child Health (MCH) booklet. Phase II of the quantitative research utilized a one group experimental pre-post-test design to assess the effectiveness of the education modules in increasing mothers’ knowledge and behavior, and in turn, infants’ feeding intake and growth. Both the ABC-MPASI-Vid and ABC-MPASI-Press modules resulted in a higher increase of mothers’ knowledge in complementary feeding practice compared to the MCH booklet, with the video module being more effective in improving mothers’ behavior. This increase of knowledge and behavior in mothers, in turn, increased their infants’ food intake, as shown by the improvements of the Minimum Dietary Diversity (MDD) and Minimum Acceptable Diet (MAD) parameters, as well as improvements in calorie, protein, fat and iron intakes during their final visit. A significant increase in weight increment (WI) and length increment (LI) was found after intervention. It was concluded that the intervention with the ABC-MPASI-Vid and ABC-MPASI-Press mod- ules could improve mother's understanding of the complementary feeding material and mother's knowledge regarding the correct complementary feeding practice. The ABC-MPASI-Vid mod- ule is more effective in improving the behavior of mothers in correct complementary feeding practice and can be used by mothers with various educational backgrounds. Interventions with the ABC-MPASI-Vid module can increase complementary food intakes in terms of the amount of protein and energy intake, improve the composition of complementary foods, especially fat and iron intakes, and increase the percentage of infants who meet the criteria for MDD and MAD. Babies raised by mothers who received educational intervention with the ABC-MPASI- Vid module had a significant change in the normal growth trend, as assessed by weight incre- ment and length increment (p value = 0.015), with a decrease in infants with abnormal W1 and L1 values of 22.9% after the intervention.