Hasil Pencarian  ::  Simpan CSV :: Kembali

Abstrak :
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.

---

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.

Abstrak :

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.

 

---

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

Abstrak :
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.

Abstrak :
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.