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"ABSTRACTA 20-year old man was admitted for evaluation of Cushings syndrome. He presented with a history of headache, fatique, mood disorder, hypertension (Blood Pressure 170/120 mmHg), moon face, buffalo hump, striae rubrae. Cortisol serum laboratory increased 33.53 µgr/dl (Normal range: 3.09 -16.6ugr/dl). Abdominal CT Scan showed a right adrenal mass diameter 10.53 x 6.83 cm, with calcified and necrotized area. Levels of ACTH < 5 pg/ml (Normal range : 6 - 50 pg/ml), absence hypothalamus pituitary defect in brain MRI angiography lead the primary site on adrenal. Patient was given ketoconazole 600 mg daily to treat hypercortisolemia. The patient underwent laparoscopic right adrenalectomy. Preparation of hydrocortisone 100 mg during anesthesia-surgery to prevent occurrence of adrenal crisis. Patient position was LLD, 11mm trocar port with 0, 30 degree optic, 2 port 5mm was used for working element. Harmonic ultrasoundshear was used for dissection, hemoLock clip to control vascular. Right subcostal incision make to remove adrenal gland. EBL 1000 cc, close monitoring in ICU ward. Hydrocortison was continued 5 days after surgery. Ventilatory support removed in 2 day after surgery. On the fifth day condition stable without signs of adrenal crisis, and the patient sent to elective ward. The pathology report revealed a cushing adenoma of adrenal gland. On the fifth day after surgical intervention, postoperative cortisol levels at 12 µgr/dl. On seventh day, surgical wound healing was well with minimum dose NSAID orally. Striae thining, ginecomastia, buffalo neck, moon face was reduced. The patient was regularly followed up at Endocrine division, Department of Internal medicine. Moon face have been eliminated, no striae and good mood condition. Blood pressure was 130/ 70 mmHg (without antihypertensive drugs) and cortisol serum was 4.52 µgr/dL and independent from steroid medication. Multidisciplinary approach including endocrine treatment, prevention adrenal crisis and laparoscopic adrenalectomy procedure have good result for Cushings syndrome due to adenoma of adrenal gland."

"ABSTRAKDeteksi mutasi sangat penting dilakukan terutama untuk diagnosis pranatal maupun staining neonatal. Dengan pemeriksaan DNA, kasus-kasus HAK dapat dideteksi sebelum gejala salt wasting, muntah, dan dehidrasi muncul sehingga dapat mengurangi morbiditas bahkan mortalitas yang mungkin terjadi. Pada kasus kehamilan yang dicurigai HAK, diagnosis HAK pranatal memungkinkan terapi sedini mungkin untuk mencegah virilisasi pranatal sehingga genitalia ambigus tidak terjadi dan operasi serta beban psikologis akibat kebingungan gender dapat dihindari. Sebaliknya bila HAK dapat disingkirkan maka terapi yang tidak perlu seperti pemberian deksametason pranatal juga dapat dihindari. Pengetahuan mengenai mutasi-mutasi tersering dalam populasi akan mempermudah deteksi mutasi pada kasus-kasus HAK Baru, mempercepat penegakan diagnosis dan menyingkirkan keraguan diagnosis.Rumusan Masalah1. Berapa proporsi tipe klasik (tipe SW dan SV) dan non klasik (NK) pada HAK karena karena defisiensi enzim 21-hidroksilase di Departemen Ilmu Kesehatan Anak FKUI RSCM?2. Berapa frekuensi delesi/large gene conversion, mutasi I172N, I2 splice, dan R356W pada kasus-kasus HAK-21 hidroksilase dan apakah mutasi-mutasi tersebut seragam dengan yang dilaporkan di Asia?3. Apakah terdapat konsistensi kesesuaian antara fenotip dan genotip pada kasuskasus HAK tersebut? Tujuan PenelitianTujuan UmumMengetahui proporsi tipe klasik (tipe SW dan SV) dan non Wasik, pola mutasi dan konsistensi hubungan antara fenotip dan genotip pada kasus-kasus HAK karena defisiensi enzim defisiensi 21-hidroksilase di Departemen Ilmu Kesehatan Anak FKUI RSCM.Tujuan Khususa. Memperoleh data karakteristik HAK karena defisiensi enzim 21-hidroksilase antara lain perbandingan jenis kelamin, penentuan gender, suku, konsanguinitas, usia gestasi, berat lahir, kematian saudara kandung, kejadian HAK pada saudara kandung, dan riwayat infertilitas pada keluarga.b. Memperoleh data fenotip kasus-kasus HAK karena defisiensi enzim 21-hidroksilase (proporsi tipe klasik dan non kiasik kasus-kasus HAK karena defisiensi enzim 21-hidroksilase dan derajat virilisasi genital).c. Memperoleh data mengenai pola mutasi kasus-kasus HAK karena defisiensi enzim 21-hidroksilase dengan acuan mutasi-mutasi yang sering ditemukan di wilayah Asia (delesi/large gene conversion, mutasi I172N, 12 splice, dan R356W).d. Memperoleh data/bukti kesesuaian fenotip dan geno tip (mutasi) pasien HAK karena defisiensi enzim 21-hidroksilase dan membandingkannya dengan penelitian-penelitian lain."

"Adrenal incidentalomais an adrenal tumor, which is unidentified before the imaging procedures conducted for an abnormality which is initially unforeseen as an adrenal disease...."

"long with Caltech physicist Mlodinow, University of Cambridge cosmologist Hawking mixes cutting-edge physics to answer three key questions-- Why is there something rather than nothing? Why do we exist? Why this particular set of laws and not some other?-- and explains that scientists are approaching what is called "M-theory," a collection of overlapping theories (including string theory) that fill in many (but not all) of the blank spots in quantum physics.Along with Caltech physicist Mlodinow (The Drunkard's Walk), University of Cambridge cosmologist Hawking (A Brief History of Time) deftly mixes cutting-edge physics to answer three key questions-- Why is there something rather than nothing? Why do we exist? Why this particular set of laws and not some other?-- and explains that scientists are approaching what is called "M-theory," a collection of overlapping theories (including string theory) that fill in many (but not all) the blank spots in quantum physics. This collection is known as the "Grand Unified Field Theories.""

"Adenoma hipofise adalah tumor yang walaupun mempunyai gambaran histopatologi jinak, akan tetapi seringkali memberikan penampakan klinis yang tidak ringan. Penampakan klinis ini dapat merupakan efek dari adanya masa tumor, gangguan hormonal, atau keduanya. Disamping itu, tumor ini sering kali mengalami kekambuhan setelah terapi. Penanganan jenis tumor ini banyak mengalami kemajuan dengan adanya perbaikan baik teknik berbagai modalitas terapi yang digunakan yaitu pembedahan dan radiasi, maupun ditemukannya berbagai obat. Penanganan multimodalitas seringkali diperlukan dalam penanganan adenoma hipofise untuk mendapatkan hasil terapi yang optimal. Radiasi merupakan salah satu agen sitotoksik dengan menggunakan sinar pengion yang banyak digunakan dalam pengobatan adenoma hipofise bersama dengan modalitas terapi lainnya. Pemberian radiasi pasca pembedahan terbukti menurunkan angka kekambuhan (22-71% vs 8-23%) secara bermakna. Saat ini telah terjadi perkembangan yang pesat dalam teknik pemberian radiasi pada adenoma hipofise. Perkembangan tersebut didasari baik oleh perbaikan pengetahuan dalam bidang teknologi komputer dan peralatan radiasi, maupun oleh berkembangnya pengetahuan dalam bidang biologi seluler maupun molekuler baik jaringan sehat maupun tumor. Tujuan untuk mengembangkan teknik dan metode radiasi adalah supaya mendapatkan dosis radiasi yang tinggi dan homogen di daerah target radiasi dengan dosis serendah mungkin pada jaringan sehat di sekitarnya. Dengan berbagai perkembangan ilmu pengetahuan maupun teknologi, khususnya sehubungan dengan ilmu komputer, maka terjadi perkembangan dalam metode maupun teknik radiasi. Makalah ini membahas berbagai aspek penggunaan radiasi yang mutakhir dalam penanganan adenoma hipofise.

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The Role of Irradiation in Hypophyseal Adenoma. Pituitary adenomas are histopathologically benign, however the clinical presentations are often quite severe. These clinical signs are due to the tumor mass effect, hormonal disturbances or both. Besides that, these tumors often recurred after treatment. The treatment of pituitary tumors have developed greatly with the improvement of techniques of several modalities such as surgery, radiation and medication. Multimodality treatment is often used for optimal results in treating these tumors. Radiotherapy is a cytotoxic agent using ion radiation for the treatment of pituitary tumors in combination with other methods. Post-surgical radiotherapy has shown to decrease the recurrence rate significantly (22-71% vs 8-23%). At present there has been rapid improvements in radiation techniques for pituitary tumors. These developments are not only based upon the increase of know-how in computer technology and radiation instruments, but are also based upon the development of cellular and molecular biology in connection with normal and tumor tissues. The objective in developing radiation methods and techniques is to create a high radiation dose, homogeneous in the target area with low radiation dose in normal tissue. The development in science and technology, in particular concerning computer science, have created the development of radiation techniques and methods. This paper elaborates on several aspects of radiation in the treatment of pituitary tumors."