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"the availabilty of assisted reproductive technologies and advances in molecular biology gave rise to preimplantation genetic diagnosis (PGD). PGD is an early form of prental diagnosis and determines the genotype of an embryo before implantation takes place to avoid the implantation of diseased embryos. this requires couples to adhere to a strict family planning and effective contraceptive strategy, and undergo in vitro fertilization (IVF) treatment. during IVF, sampling of the cells can be performed at different developmental stages from polar body biopsy to trophectoderm cells from the blastocysts. it is indicated in couples with a family history of monogenic autosomal or X-linked recessive or dominant disorders and in detecting chromosomal aberrations of the embryos. the genetic diagnosis is performed using appropriate molecular testing which might include polymerase chain reaction, fluorescent in situ hybridization, comparative genomic hybridization or microarrays. PGD is now a wellestablished procedure and offers an alternative reproductive choice for couples who are at risk of an affected child. in this review, the past, present and future aspect of PGD will be covered. "

"Uveitis adalah inflamasi intraokular yang terjadi pada saluran uvea mata ataupun jaringan yang berada di dekatnya, diantaranya retina atau vitreous. Uveitis merupakan penyebab kebutaan nomor tiga di dunia dengan prevalensi tertinggi pada kelompok umur pekerja aktif 20-50 tahun . Selama ini diagnosis uveitis infeksi dan non-infeksi di Indonesia ditegakkan secara klinis dan didukung pemeriksaan serologi darah. Pemeriksaan antibodi pada cairan akuos dan serum serta marka genetik, khususnya HLA B-27 belum pernah dilakukan. Penelitian ini dilakukan untuk memberikan alternatif pendukung diagnosis klinis yaitu pemeriksaan deteksi molekuler HLA B-27 dan deteksi antibodi dengan perhitungan koefisien Goldmann-Witmer. Subjek penelitian adalah pasien uveitis aktif di Poliklinik Infeksi dan Imunologi RSCM Kirana yang berjumlah 79 orang. Berdasarkan koefisien Goldmann-Witmer, mikroba penyebab uveitis adalah Toxoplasma gondii dan virus Varicella zoster. Gen HLA-B27 ditemukan pada enam subjek penelitian dan terdapat kesesuaian dengan kasus uveitis non-infeksi tetapi belum dapat dibuktikan kemaknaannya secara statistik.

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Uveitis is an intraocular inflammation which occurs on the uvea or its surrounding tissue such as retina or vitreous. Uveitis is known as the third major cause of blindness in the world with the highest prevalence is productive age group 20 50 years old . To date, infectious and non infectious uveitis stipulation in Indonesia is based on clinical examination and serology test. The aqueous and serum antibody titer measurement as well as genetic marker examination, especially on HLA B27, has never been done before. In this research we perform HLA B27 detection through molecular analysis and antibody titer measurement to know the Goldmann Whitmer coefficient. Sample size used in this research is 79 patients with active uveitis obtained from ldquo Poliklinik Infeksi dan Imunologi RSCM Kirana rdquo . The analysis of Goldmann Whitmer coefficient showed that the pathogens responsible for uveitis are Toxoplasma gondii and Varicella zoster. HLA B27 were found in six patients and there is similiarity between non infectious uveitis but this value does not have prove statistically. "

"Sistem urinari hewan dapat dibagi menjadi 2 bagian yaitu sistem urinari bagian atas dan sistem urinari bagian bawah. Ginjal yang merupakan bagian dari sistem urinari memiliki 2 fungsi penting, yaitu filtrasi dan reabsorpsi. Dalam mendiagnosis penyakit yang diderita hewan pada sistem urinarinya terdapat beberapa kendala. Pada penelitian ini, dikembangkan model untuk mendiagnosis gangguan sistem urinari pada anjing dan kucing dengan menggunakan algoritma VFI 5 berdasarkan gejala klinis (terdapat 37 feature) dan pemeriksaan laboratorium (39 feature). Percobaan dilakukan baik pada feature gejala klinis dan juga pada feature pemeriksaan laboratorium. Hasil pengamatan yang dilakukan menunjukkan bahwa akurasi rata-rata sebesar 77,38% untuk percobaan dengan feature gejala klinis, dan 86,31% untuk percobaan dengan feature pemeriksaan laboratorium. Peningkatan ini mengindikasikan bahwa dalam mendiagnosis penyakit dalam sistem urinari, pemeriksaan laboratorium masih sangat dibutuhkan dalam menentukan hasil diagnosis suatu penyakit."

"When faced with a challenging dermatologic problem, physicians are often required to perform a time-consuming search through large dermatologic texts in order to find information that will assist in the necessary differential diagnosis. This comprehensive and concise handbook is designed to simplify this process dramatically, permitting rapid identification of the correct diagnosis. Hundreds of dermatologic diagnoses, morphologic features, drug-induced disorders, extracutaneous manifestations, histologic findings, and random other findings are listed in alphabetical order and in a homogeneous, reader-friendly structure. The differential diagnoses are shown under each main diagnosis, sorted according to similarity with that diagnosis. Since the first edition, approaching 50 new diagnoses have been added, and many new images included. "

"Penyakit jantung bawaan (PJB) sianotik menyebabkan terjadinya hipoksia kronik yang akan memicu peningkatan eritropoietin dan meningkatkan kadar hemoglobin (Hb). Diagnosis defisiensi besi pada PJB sianotik menjadi sulit karena parameter standar seperti Hb dan indeks eritrosit tidak dapat digunakan. Parameter pemeriksaan lain seperti feritin dan saturasi transferin sering tidak akuirat karena dipengaruhi berbagai faktor seperti inflamasi akut. American Academy of Pediatrics merekomendasikan pemeriksan reticulocyte hemoglobin equivalent (Ret-He) sebagai alat diagnosis defisiensi besi yang tidak dipengaruhi inflamasi akut. Serial kasus ini bertujuan untuk menilai gambaran Ret-He dalam menilai defisiensi besi pada pasien PJB sianotik. Sebanyak 11 subjek berusia 6 bulan - 5 tahun dengan PJB sianotik mengikuti penelitian ini dan dilakukan pemeriksaan antropometri, saturasi oksigen, Hb, indeks eritrosit, serum besi, total iron binding complex (TIBC), feritin, dan Ret-He. Terdapat 7 subjek dengan diagnosis tetralogi Fallot dan 4 subjek dengan double-outlet right ventricle (DORV). Sebanyak 10 subjek mengalami malnutrisi dan gangguan penyimpanan besi, namun status gizi tidak berbanding lurus dengan status besi. Nilai Ret-He yang rendah ditemui pada 9 dari 10 subjek yang mengalami gangguan penyimpanan besi meskipun tidak ditemukan nilai yang linear. Berdasarkan temuan di atas, diperlukan beberapa pemeriksaan laboratorium dalam mendiagnosis defisiensi besi pada PJB sianotik.

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Cyanotic congenital heart disease (CHD) would cause chronic hypoxia and trigger erythropoietin which led to increase hemoglobin (Hb) levels. Diagnosis of iron deficiency in cyanotic CHD is difficult because standard parameters such as Hb and erythrocyte index cannot be used. Another parameters like ferritin and transferrin saturation are confounded by various factor such as acute inflammation. The America Academy of Pediatrics recommends reticulocyte hemoglobin equivalent (Ret-He) as a diagnostic tool for iron deficiency which not influenced by acute inflammation. This case series aims to assess the role of Ret-He in diagnosing iron deficiency in cyanotic CHD. A total 11 subjects aged 6 months - 5 years with cyanotic CHD included in this study and were examined to anthropometric, oxygen saturation, Hb, erythrocyte index, serum iron, total iron binding complex (TIBC), ferritin, and Ret-He. There were 7 subjects diagnosed with tetralogy of Fallot’s and 4 subjects with double outlet right ventricle (DORV). Malnutrition found and iron storage disorder was found in 10 subject, but nutritional status was not directly proportional to iron status. A low Ret-He value was found in 9 out of 10 iron-deficient subjects, although no linearity between them. Based on the above findings, several laboratory tests are needed in diagnosing iron deficiency in cyanotic CHD."

"Abstract:Designed as a practical resource for rapid and accurate diagnosis in otolaryngology--head and neck surgery and facial plastic surgery, this comprehensive manual uses an innovative format that simulates what physicians experience in daily practice."