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"Laporan ini memuat efek samping klinis dan biokimia pemberian zoledronic acid dosis awal pada tiga anak bersaudara dengan osteogenesis imperfecta berat. Zoledronic acid diberikan dalam 50 ml larutan garam fisiologis selama 30 menit. Semua pasien mengalami demam dalam kurun waktu 6-48 jam setelah pemberian infus pertama. Tidak ada efek samping terhadap fungsi ginjal, kecuali hipokalsemia dan hipofosfatemia, yang terjadi dalam 48 jam dan 72 jam setelah infus zoledronic acid. Efek samping minimal dapat diatasi dengan mudah.

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This report documented the clinical and biochemical side effects on the first dose of intravenous zoledronic acid therapy in three siblings with severe osteogenesis imperfecta. Zoledronic acid was administered in 50 ml 0.9% saline solution over a period of 30 minutes. All patients had fever during the first 6 to 48 hours after the first infusion. There were no renal side effects, apart from asymptomatic hypocalcemia and hypophosphatemia at 48 and 72 hours after zoledronic acid infusion. The minimal clinical side effects were easily manageable."

"Latar belakang: Diketahui sekitar 10-30% anak sindrom nefrotik resisten steroid (SNRS) mengalami varian patogenik (SNRS monogenik) dan kejadian ini lebih tinggi pada SNRS primer dibandingkan SNRS sekunder. Adanya varian patogenik yang terkonfirmasi dapat membantu memprediksi gejala klinis, berpengaruh terhadap terapi yang diberikan, memberikan informasi untuk konseling genetik, serta berpotensi untuk diagnosis antenatal atau pra-gejala. Di Indonesia, penelitian terkait pola mutasi genetik pada anak dengan SNRS primer masih sangat terbatas.Tujuan: Mengetahui pola mutasi genetik pada anak dengan SNRS primer di RSCM.Metode: Penelitian ini menggunakan metode studi prevalens dan potong lintang untuk mendeteksi pola varian genetik subjek dengan SNRS primer dan mengetahui hubungannya dengan profil klinis subjek. Pemeriksaan genetik yang dilakukan adalah whole exome sequencing (WES).Hasil: Dari 60 subjek, diperoleh 16 subjek yang merupakan SNRS dengan varian (26,7%) dan semuanya berusia <12 tahun, terbanyak di bawah 3 tahun (9 dari 16 subjek). Probable disease-causing variant terkait sindrom nefrotik yang ditemukan dalam penelitian ini adalah pada gen LAMA5, COL4A4, COL4A3, TBC1D8B, dan TRPC6 dengan masing-masing 2 subjek, serta pada gen ANLN, FN1, NUP93, AVIL, INF2, CUBN, dan COQ8B/ADCK4 dengan masing-masing 1 subjek. Tidak didapatkan hubungan secara signifikan antara temuan varian dengan faktor demografi (usia, jenis kelamin, riwayat keluarga, dan konsanguinitas), manifestasi klinis (respons terhadap siklosporin dan laju filtrasi glomerulus), dan hasil biopsi ginjal.Kesimpulan: SNRS dengan varian ditemukan sebanyak 26,7% dari seluruh subjek dengan SNRS primer. Pola varian bersifat acak dan terbanyak ditemukan pada gen terkait sindrom Alport yaitu pada 4 dari 16 subjek. Pasien SNRS primer dengan usia <3 tahun terindikasi untuk dilakukan pemeriksaan genetik.

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Background: Approximately 10-30% of children with steroid-resistant nephrotic syndrome (SRNS) have a pathogenic variant (monogenic SRNS) and this rate is higher in primary SRNS compared to secondary SRNS. The presence of confirmed pathogenic variants can help to predict clinical symptoms, affect the treatment, provide information for genetic counseling, and have the potential for antenatal or pre-symptomatic diagnosis. In Indonesia, research related to genetic mutation patterns in children with primary SRNS is still very limited.

Objective: To determine the genetic mutation patterns in pediatric subjects with primary SRNS.

Methods: This study used prevalence and cross-sectional study methods to detect the variant in primary SRNS subjects and determine its relationship with the clinical profile of the subjects. The genetic test performed was whole exome sequencing (WES).

Results: Out of 60 subjects, we found 16 subjects (26,7%) were SRNS with variants and all below 12 years-old, most were below 3 years-old (9 out of 16 subjects). Detected probable disease-causing variants related to nephrotic syndrome in this study were LAMA5, COL4A4, COL4A3, TBC1D8B, and TRPC6 genes each in 2 patients, and ANLN, FN1, NUP93, AVIL, INF2, CUBN, and COQ8B/ADCK4 genes each in 1 patient. No significant relationship was determined between variant finding and demographic factors (age, sex, family history, and consanguinity), clinical manifestations (response to cyclosporine and glomerular filtration rate), or kidney biopsy results.

Conclusion: We found 26,7% SRNS with variants in primary SRNS subjects. Variant patterns are scattered with most genes found were related to Alport syndrome in 4 out of 16 subjects. Primary SRNS patients below 3 years-old are indicated for genetic testing."

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Latar Belakang: Talasemia I² mayor merupakan penyakit dengan gen carrier yang cukup banyak ditemukan di Indonesia sehingga dibutuhkan penelitian lebih lanjut tentang pola talasemia β mayor terlebih lagi penderitanya mengalami inefektif hematopoesis sehingga pasien talasemia I² mayor sangat bergantung dengan terapi transfusi dan kelasi untuk bertahan hidup sehingga penelitian ini bertujuan untuk mengetahui efek yang ditimbulkan dari kepatuhan terapi kelasi pada populasi Indonesia terhadap kadar alanin aminotransferase, aspartat aminotransferase, dan AST to patelet ratio index (APRI) score.

Metode: Penelitian ini menggunakan metode observatif cross sectional dan seluruh partisipan penelitian adalah pasien RSCM Kiara. Data kepatuhan pasien didapat dari kuisioner morisky medication adherence scale -8 serta pertanyaan singkat alasan ketidakpatuhan dalam terapi yang akan dicocokan dengan data laboratorium pasien pada rekam medik elektronik dan selanjutnya data dianalisis menggunakan uji bivariat nonparametrik Kruskal-Wallis dan uji Post-Hoc Mann-Whitney.

Hasil: Tidak ditemukan adanya hubungan yang bermakna antara kepatuhan terapi kelasi terhadap kadar alanin amintotransferase, aspartat aminotransferase, dan APRI score namun, ditemukan hubungan yang bermakna pada umur, lama transfusi, dan jenis kelator terhadap nilai APRI score.

Kesimpulan: Tidak ditemukan adanya hubungan bermakna pada kepatuhan terapi kelasi terhadap kadar alanin aminotransferase, aspartat aminotransferase, dan APRI score namun dibutuhkan penelitian lebih lanjut untuk mengkonfirmasi hasil tersebut dikarenakan terdapat keterbatasan dalam penelitian.

 

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Background: Thalassemia I² major is a disease with carrier gene common enough to be found in Indonesia therefore further research was needed to know the exact pattern and characteristics of thalassemia I² major because the patients has ineffective hematopoiesis depend their life with transfusion and chelation therapy to survive therefore it need further research to know the effect of chelation therapy for population in Indonesia with alanin aminotransferase, aspartat aminotransferase, and AST to platelet ratio index (APRI) score level.

Methods: This study used observative cross sectional method and all of the participants are patients at RSCM Kiara. Participants compliance were measured by morisky medication adherence scale-8 with some adjustment to know the reason why participants isnt complying with therapy and will be compared with laboratory result through electronic medical record then both results were then analyzed non-parametrically using Kruskal-Wallis followed by Mann-Whitney for Post-Hoc.

Results: There arent any correlation between chelation therapy compliance with aspartat aminotransferase, alanine aminotransferase, and AST to platelet ratio index score level but it has been found that age, transfusion duration, and type of chelator have some degree of correlation.

Conclusion: There arent any correlation between chelation therapy compliance with aspartat aminotransferase, alanine aminotransferase, and AST to platelet ratio index score level but the result need further research to confirm the result because this research has its own degree of limitation

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"This guide represents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice, numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC."

"In this volume Dr Hui has brought together a comprehensive overview of gestational trophoblastic disease that includes all the currently recognized entities: complete and partial hydatidiform moles, placental site trophoblastic tumor, epithelioid trophoblastic tumor, gestational choriocarcinoma, persistent gestational trophoblastic neoplasia, placental site nodule and exaggerated placental site reaction. Each entity is reviewed in detail, with emphasis on genetic background, clinical presentation, pathologic findings and ancillary studies, differential diagnosis and clinicopathological correlations.Descriptions of the pathology are supported by numerous excellent photomicrographs. Recent advances in our understanding of the genetics of gestational trophoblastic diseases are stressed. Introductory chapters cover the developmental biology of the placenta and the genetic basis of gestational trophoblastic disease, and one chapter is devoted to the molecular diagnosis of gestational trophoblastic disease. This chapter includes a review of the use of short tandem repeat (STR) genotyping which is of particular value in the diagnosis of hydatidiform moles. The final chapter covers clinical aspects of gestational trophoblastic disease, including treatment. The text throughout is current and thoroughly referenced. "