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1
Ramadhani, Dwi, Yanti Lusiyanti, Zubaidah Alatas, and Sofiati Purnami. "SEMI OTOMATISASI KARIOTIPE UNTUK DETEKSI ABERASI KROMOSOM AKIBAT PAPARAN RADIASI." Jurnal Forum Nuklir 6, no. 2 (2012): 178. http://dx.doi.org/10.17146/jfn.2012.6.2.3448.
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SEMI OTOMATISASI KARIOTIPE UNTUK DETEKSI ABERASI KROMOSOM AKIBAT PAPARAN RADIASI. Proses analisis citra kromosom dilakukan dengan mengklasifikasikan kromosom berdasarkan panjang dan bentuknya sehingga dihasilkan ideogram. Proses tersebut dinamakan kariotipe. Kariotipe umumnya dilakukan dengan cara mengambil citra sel pada saat metafase sehingga kromosom terlihat jelas terlebih dahulu, kemudian menggunting setiap citra kromosom dan mengidentifikasi masingmasing kromosom untuk dibuat ideogramnya. Proses kariotipe dapat digunakan untuk mendeteksi aberasi kromosom akibat paparan radiasi. Proses pembuatan kariotipe sangat menyita waktu dan tenaga sehingga telah banyak dikembangkan perangkat lunak untuk membantu kariotipe kromosom baik yang otomatis maupun semiotomatis. Salah satu perangkat lunak tersebut adalah Cytovision 3.6. Selain perangkat lunak yang bersifat komersil terdapat perangkat lunak lain yang dapat di unduh dan digunakan secara bebas uotuk membantu proses kariotipe yaitu SmartType Express. Tujuan kegiatan yang dilakukan adalah untuk membandingkan kemampuan perangkat lunak semi otomatis komersil dan yang bersifat bebas dalam membantu proses pembuatan ideogram untuk mendetek si aberasi kromosom akibat paparan radiasi. Metode yang digunakan adalah membandingkan waktu yang dibutuhkan oleh Cytovision 3.6 dan SmartType Express untuk menghilangkan kesepuluh background citra dan meningkatkan intensitas warna gelap pada pita kromosom juga pemisahan citra kromosom tumpang tindih hingga terbentuk citra kromosom yang lebih mudah untuk diklasifikasi dan dibuat ideogramnya. Data yang didapat kemudian diolah secara statistik menggunakan Uji Wilcoxon dengan hipotesis bahwa H0 adalah tidak terdapat perbedaan waktu secara nyata menggunakan kedua perangkat lunak untuk menghasilkan citra kromosom yang lebih baik dan H1 terdapat perbedaan secara nyata menggunakan kedua perangkat lunak untuk menghasilkan citra kromosom yang lebih baik. Taraf nyata yang digunakan (a) adalah 0,05. Hasil pengolahan secara statistik menunjukkan bahwa pengolahan citra kromosom mengunakan SmartType Express cukup baik dan tidak berbeda dengan perangkat lunak komersil Cytovision 3.6.
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Hidajat, Sjarif, Herry Garna, Ponpon S. Idjradinata, and Achmad Surjono. "Pemeriksaan Dermatoglifik dan Penilaian Fenotip Sindrom Down Sebagai Uji Diagnostik Kariotip Aberasi Penuh Trisomi 21." Sari Pediatri 7, no. 2 (2016): 97. http://dx.doi.org/10.14238/sp7.2.2005.97-104.
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Latar belakang: Sindrom Down (trisomi 21) terjadi karena aberasi numerik sebagaiakibat kegagalan proses replikasi dan pemisahan sel anak (non-disjunction). Bentukkariotip aberasi ini dapat berbentuk aberasi penuh dan dapat pula berbentuk mosaik,yang diduga mempunyai implikasi terhadap berat ringannya kelainan fenotip. Di sampingpenting untuk konseling genetik, penelaahan secara cepat di bangsal perinatologi jugadiperlukan untuk asumsi sementara dalam menjawab pertanyaan keluarga pasien.Tujuan: tujuan penelitian untuk mengetahui hubungan jenis kariotip dengan beratnyaaberasi penuh terhadap beratnya fenotip sindrom Down.Metoda: penelitian dilakukan pada 147 anak usia 0-5 tahun di Yayasan Suryakanti, RSDr. Hasan Sadikin dan Yayasan Dian Grahita Jakarta. Penentuan fenotip sindrom Downdilakukan dengan penelaahan gejala utama dari kelainan tersebut. Dilakukan wawancarariwayat perinatal dan latar belakang keluarga serta pemeriksaan dermatoglifik,pemeriksaan antropometrik khusus dan pengambilan sampel darah untuk pemeriksaankromosom dari kultur limfosit.Hasil: didapatkan 146 anak mempunyai kelainan kariotip, yang ternyata semuanya trisomi21, sedangkan seorang anak menunjukkan kariotip normal. Hasil analisis menunjukkandermatoglifik, kelainan mata dan kelainan tangan dan kaki mempunyai hubungan yangsignifikan dengan kariotip. Pada dermatoglifik abnormal 78,2% mengarah ke kariotipaberasi penuh. Kelainan jantung bawaan, kelainan mata dan kelainan tangan dan kaki,terdapat masing-masing 82,4%, 77,7% dan 77,6%. Secara bersama-sama yang memberikannilai risiko tertinggi adalah kelainan gerak, kemudian kelainan mata dan dermatoglifik.Sebanyak 47 anak (32%) menunjukkan kariotip mosaik dan 99 anak (68%) jenis aberasipenuh. Diperoleh besarnya risiko terjadinya kariotip aberasi penuh adalah 9,5 kali padakeempat variabel fenotip abnormal dibandingkan dengan subjek tanpa gangguan fenotipdan dermatoglifik. Kelainan dermatoglifik, kelainan mata dan kelainan tangan serta kakisecara bermakna menunjukkan adanya hubungan antara satu variabel dengan lainnya,makin rendah persentase sel normal pada kariotip aberasi penuh, makin abnormal keadaandermatoglifik dan fenotip organ tubuh tersebut.Kesimpulan: pasien kelainan aberasi kromosom numerik, khususnya trisomi 21,mempunyai kelainan gabungan dermatoglifik serta kelainan organ tertentu dalam derajatyang maksimal, dan cenderung menunjukkan kariotip jenis aberasi penuh.
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Arimbawa, I. M., Jose RL Batubara, Bambang Tridjaya AAP, and Aman B. Pulungan. "Karakteristik Sindrom Turner di Jakarta." Sari Pediatri 9, no. 6 (2016): 386. http://dx.doi.org/10.14238/sp9.6.2008.386-90.
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Latar belakang. Sindrom Turner adalah kumpulan gejala dengan karakteristik fisik dan hilangnya satukromosom X baik secara komplit maupun parsial, dan sering pula berupa sel mosaik.Tujuan. Untuk mengetahui karakteristik pasien sindrom Turner yang meliputi kariotip, umur saatdiagnosis, perawakan, kelainan penyerta, status pubertas, kadar follicle stimulating hormone (FSH), danusia tulang.Metode. Penelitian merupakan studi deskriptif. Data diperoleh dari Perkumpulan Turner Jakarta dancatatan medik pasien yang berkunjung ke Poliklinik Endokrin Anak RSCM dari tahun 1997-2006.Hasil. Dari 20 kasus yang berhasil dikumpulkan, 17 di antaranya dengan kariotip 45,X, sisanya mosaik.Rerata umur saat diagnosis adalah 7,75 tahun (rentang 0-15 tahun); rerata berat lahir 2590 gram; perawakanpendek 18 pasien (18/20). Terdapat 8 pasien dengan kelainan penyerta yaitu 4 anak kelainan jantung, 3gangguan telinga, dan 1 orang dengan hipertensi. Saat diagnosis tujuh pasien, mengalami pubertas terlambat.Rerata kadar FSH dari 16 pasien adalah 82,94 IU/liter (rentang 13,8-188 IU/liter). Data usia tulang (16pasien) menunjukkan retarded (11 pasien), dan sisanya average.Kesimpulan. Pada penelitian ini karakteristik utama sindrom Turner adalah kariotip 45,X dengankarakteristik fisik perawakan pendek dan pubertas terlambat disertai kelainan penyerta
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Andriani, I., N. Sugiri, Odang Carman, and D. S. Sjafei. "The Caryotipe of Endemic Ornamental Fish Celebes Rainbow (Telmatherina ladigesi) from Maros River, South Sulawesi." Jurnal Akuakultur Indonesia 3, no. 2 (2007): 13. http://dx.doi.org/10.19027/jai.3.13-18.
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<p>The objective of this research was to find the caryotype of the endemic ornamental fish, Celebes rainbow <em>(Telmatherina ladigesi) </em>from Maros River South Sulawesi, Indonesia. The experimental fish were caught from the branches of Maros River, those are Bantimurung River, Pattunuangasue River and Makkatoang River. Tissue collection and slide preparation were carried out using the solid tissue technique with slight modification. The amount of chromosome pairs found from those three rivers (three population) were 2n = 48. These chromosomes were divided into 13 pairs big chromosomes (>1 urn) and 11 pairs small chromosomes (<1 u.m). The caryotype of each population were 3 submetacentric (Sm), 7 subtelocentric (St) and 14 telocentric (t) for population in Pattunuangasue River, 2Sm-8St-14t in Bantimurung River and lSm-7St-16t in Makkatoang River. Based on the above caryotype datas it was concluded that the population of Celebes rainbow in Maros River have been different.</p> <p>Key words : <em>Celebes Rainbow, endemic, caryotype, chromosome, Maros River </em></p> <p> </p> <p>ABSTRAK</p> <p>Penelitian ini bertujuan untuk mengetahui kariotip dari ikan hias endemik rainbow Sulawesi <em>(Telmatherina ladigesi). </em>Ikan uji rainbow Sulawesi diambil dari beberapa anak Sungai Maros yaitu Sungai Bantimurung, Sungai Pattunuangasue dan Sungai Makkatoang. Pembuatan preparat kromosom dilakukan dengan menggunakan teknik jaringan padat dengan sedikit modifikasi. Jumlah kromosom semua ikan uji rainbow Sulawesi adalah 48 buah atau 24 pasang (2n = 48). Kromosom tersebut terdiri atas 13 pasang kromosom besar (>I u,m) dan 11 pasang kromosom kecil (<1 urn ). Pola kariotip yang diperoleh yaitu masing-masing 3 submetasentrik (Sm), 7 subtelosentrik (St) dan 14 telosentrik (t) untuk ikan rainbow Sulawesi di Sungai Pattunuangasue, 2Sm-8St-14t di Sungai Bantimurung dan lSm-7St-16t di Sungai Makkatoang. Perbedaan pola kariotip ini menunjukkan adanya kemungkinan perbedaan populasi.</p> Kata kunci : <em>rainbow Sulawesi, endemik, kariotip, kromosom, Sungai Maros</em>
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Novakov-Mikic, Aleksandra. "Screening of chromosomal abnormalities: The focus is on the first trimester." Medical review 58, no. 1-2 (2005): 5–10. http://dx.doi.org/10.2298/mpns0502005n.
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<zakljucak> U savremenoj perinatologiji skriningu hromozomopatija posvecuje se velika paznja i postojece metode se stalno unapredjuju. Bez obzira koji test koristili, treba biti samokritican - ultrazvucni pregled u prvom trimestru je veoma vazan ne samo zbog markera hromozomopatija, nego i iskljucivanja postojanja velikih defekata fetusa, te je potrebno napraviti detaljan pregled. Merenje nuhalne translucencije je jedan od najvaznijih koraka ovog procesa, i preporucuje se da svi operateri koji pristupaju proceni rizika od hromozomopatija prodju adekvatnu obuku i sertifikaciju Fondacije za fetalnu medicinu, radi postizanja adekvatnog nivoa pregleda i reproducibilnosti rezultata. Laboratorije koje se bave biohemijskim skriningom i u prvom i u drugom trimestru moraju biti sertifikovane za to, te imati stalnu spoljnu kontrolu kvaliteta rezultata, jer je u protivnom vise kako lazno pozitivnih, tako i lazno negativnih nalaza, sto smanjuje stopu detekcije. Veoma je vazno da se pacijentima uvek napomene i to da se radi o procesu skrininga, ma koliko efikasan on bio, a ne definitivne dijagnoze i da se dijagnoza moze postaviti samo na osnovu invazivne intervencije i odredjivanja kariotipa ploda. .
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Tuapattinaya, Prelly M. J. "ANALISIS KARIOTIPE PADA TANAMAN PISANG TONGKAT LANGIT (Musa troglodytarum L) SERTA SUMBANGAN ILMIAH BAGI MATA KULIAH ANATOMI TUMBUHAN." Biosel: Biology Science and Education 7, no. 1 (2018): 56. http://dx.doi.org/10.33477/bs.v7i1.393.
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Swanepoel, A. "'n Vergelykende studie van die kariotipes van Tilapia rendalli, Tilapia sparrmanii en Oreochromis mossambicus (Cichlidae)." Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie 11, no. 3 (1992): 105–9. http://dx.doi.org/10.4102/satnt.v11i3.540.
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Optimal chromosome preparations were obtained from stimulated lymphocyte cultures with a new method based on a combination and modification of several techniques. Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus have somatic chromosome numbers of 44, 42 and 44, respectively. Chromosome pairs L1 and L2 are easily identified in all the karyotypes and distinctive of the tilapias. Tilapia sparrmanii has one additional large metacentric chromosome pair(L3), which occurs concurrently with the reduction of two in the total chromosome number. The F chromosomes were divided into two groups, viz a submetacentric (sm) and a telocentric (t) group. T. rendalli has 8 sm chromosomes, while both T. sparrmanii and O. mossambicus have 6 chromosomes in the sm group. The rest of the F chromosomes were telocentric. The identification of the sex chromosomes in the karyotypes of tilapia has thus far not been possible using standard techniques.
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Dinamarca, F., A. Palma, M. Grifell, et al. "When Ockham razor's principle is not applicable: Differential diagnosis of a rare case of child and adolescent psychosis." European Psychiatry 33, S1 (2016): S350. http://dx.doi.org/10.1016/j.eurpsy.2016.01.1238.
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IntroductionThe diagnosis of schizophrenia in children is rare. Less than 4% of schizophrenic patients begin before age 15 being much less stable than in adults as an entity in time. It is estimated that only 50% of diagnoses of schizophrenia in patients under 15 years are maintained over time. The most frequent differential diagnoses are bipolar disorder, post-traumatic stress disorder and dissociative disorder.Objective and methodsA case of a patient of 18 years old admitted in our service with diagnosis of paranoid schizophrenia due to the presence of delusional symptoms at age of 14 and due his evolution with impaired overall performance is presented. Upon arrival he presented delusions, self-referentiality and a strange phenotype with a pitched voice. Clinical history included presence of sexual abuse prior to debut of psychotic symptoms and rare medical comorbidity (diagnosed at age 15 of hypertension and paroxysmal sinus tachycardia). A kariotipe was done in a previous admission with normal results.ResultsDuring hospitalization symptomatic remission was achieved in just two days by decreasing antipsychotic potency of the treatment, he also presented elevated metanephrines and also elevated plasma aldosterone and renin in blood tests.ConclusionsWe discuss the differential diagnosis including schizophrenia, post-traumatic stress disorder with dissociative symptoms and endocrine pathology (pheochromocytoma and hyperaldosteronism).L. Galindo is a Rio Hortega fellowship (ISC III; CM14/00111).Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Elferink, Alex G. Oude. "T.C. Kariotis, ed., Greece and the Law of the Sea, Kluwer Law International, The Hague 1997, 364 pp., $ 235/£ 104/Dfl. 235. ISBN 90-411-0394-5." Netherlands International Law Review 44, no. 03 (1997): 429. http://dx.doi.org/10.1017/s0165070x00004654.
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RATKOVICH LEV, D. O., M. MANHAL, N. V. SAFONOVA, and D. V. AGEEV. "WATER RESOURCES TRANSBOUNDARY RIVERS REGULATION ISSUES." Prirodoobustrojstvo, no. 2 (2021): 92–101. http://dx.doi.org/10.26897/1997-6011-2021-2-92-101.
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The article concentrates on the water management situation of two transboundary basins of different scales taking into consideration the individual characteristics of the system of water resources using. The water management and environmental problems of the Euphrates (Turkey-Syria) and Karkotis (Cyprus) rivers are analyzed and their water management potential is estimated based on their generalized hydrological parameters. The chosen river basins have catchment areas (440 thousand km2 and 90 km2) that differ by several orders of magnitude, but the essence of the problems remains regardless of the scale and requires an equally detailed analysis and an individual methodological approach. The historically tense Mesopotamian region in terms of water resources is considered on the example of the Euphrates River. The existing and projected hydraulic units and water management systems in the Euphrates basin on the territory of Turkey and Syria predetermine a potential conflict of interests. Without focusing on the political aspects of the problem, the current situation and the real water potential on the border of Turkey and Syria are analyzed. The Karkotis River (another name for Klarios), originates in the north-east of the Troodos mountain range and fl ows into the Morphou gulf, Mediterranean Sea. The project «Kariotis» (the name of the project differs a little from the river name) was created in the 90s of the last century by a group of Soviet specialists on the terms of a contract. The project was not implemented for political reasons, but it is of interest in terms of the project tasks to be solved and cross-border features. The most important areas of the scientifi c research related to the hydrological and water management justification of project solutions for water resources management are formulated. This is a primary condition for effective joint water use in transboundary basins.
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Marston, Geoffrey. "Greece and the Law of the Sea. Edited by Theodore C. Kariotis. [The Hague/London/ New York: Kluwer Law International1997. xiii + 347 pp. ISBN 90-411-0394-5. £104]." International and Comparative Law Quarterly 47, no. 1 (1998): 241–42. http://dx.doi.org/10.1017/s0020589300061686.
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Parjanto, ,., Sukarti Moeljopawiro, W. T. Artama, and Aziz Purwantoro. "Kariotip Kromosom Salak." Zuriat 14, no. 2 (2015). http://dx.doi.org/10.24198/zuriat.v14i2.6789.
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Kawulur, Elda Irma. "KARIOTIPE KATAK POHON PAPUA Litoria infrafrenata." Jurnal Natural 5, no. 1 (2008). http://dx.doi.org/10.30862/jn.v5i1.704.
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<p><em>The Papuan tree frog Litoria infrafrenata has 12 chromosome pairs with two chromosome type, metasentric and submetasentric. Karyotype of Litoria infrafrenata was analyzed by determining centromere position and chromosome type. The difference of some chromosome type of L. infrafrenata in Manokwari do not indicate a closed relationship with specimen from Papua New Guinea.</em></p>
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Puspita, Andin, Agus Budi Setiawan, Aziz Purwantoro, and Endang Sulistyaningsih. "IDENTIFIKASI KROMOSOM HOMOLOG MELALUI DETEKSI NUCLEOLUS ORGANIZER REGIONS DENGAN PEWARNAAN AgNO3 PADA TANAMAN BAWANG MERAH - IN PRESS -." Jurnal Bioteknologi & Biosains Indonesia (JBBI) 7, no. 1 (2020). http://dx.doi.org/10.29122/jbbi.v7i1.3693.
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Generally, the standard procedure for karyotype analysis of shallot is sorted by chromosome sizes. Therefore, the identification of homologous chromosomes is difficult without using a specific probe. Nucleolus Organizing Regions (NORs) can be used as a probe for precise identification of homologous chromosomes. However, the use of NORs for plant karyotyping in Indonesia is poorly investigated. In this study, shallot chromosomes were prepared using modified Carnoy’s solution II, fixed in Carnoy’s solution, and stained by using aceto-carmine and AgNO3 for detecting NORs. Chromosome images were analyzed by CHIAS IV. One locus NOR bearing chromosome pair was detected at metaphase and interphase, and it was located at short arms of subtelomeric chromosome number 6. NORs can be used as a probe for precise identification of homologous chromosomes in shallot. Therefore, this technique has the potential to be applied on species closely related to shallot and on other plant species.Keywords: AgNO3, chromosome condensation, NORs, shallot chromosome, shallot karyotype ABSTRAKProsedur kariotipe untuk bawang merah umumnya masih disusun berdasarkan ukuran kromosom, sehingga diperlukan suatu penanda yang dapat mengidentifikasi kromosom homolog secara presisi. Identifikasi kromosom homolog secara presisi menggunakan suatu penanda, khususnya deteksi Nucleolus Organizing Regions (NORs), yang di Indonesia masih jarang dilakukan. Penelitian ini bertujuan untuk membuat kariotipe dan mengidentifikasi kromosom homolog bawang merah melalui deteksi NORs menggunakan metode pewarnaan AgNO3. Proses fiksasi akar dilakukan dengan menggunakan modifikasi larutan Carnoy II, lalu difiksasi dengan larutan Carnoy, dan kromosom diwarnai dengan aceto-carmine dan larutan AgNO3 untuk mendeteksi NORs. Selanjutnya, citra kromosom dianalisis menggunakan CHIAS IV. Hasil penelitian menunjukkan bahwa terdapat sepasang NORs yang terdeteksi pada fase metafase dan interfase yang terletak pada bagian lengan pendek di kromosom subtelosentrik nomor 6. Hasil dari penelitian ini dapat dijadikan sebagai dasar di bidang sitogenetika bawang merah untuk mengidentifikasi kromosom homolog secara presisi menggunakan penanda NOR. Oleh karenanya, teknik ini dapat diaplikasikan pada spesies yang berdekatan dengan bawang merah dan komoditas tanaman lainnya.Kata Kunci: AgNO3, kariotipe bawang, kondensasi kromosom, kromosom bawang, NORs
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Maideliza, Tesri, Sjahridal Dahlan, Lince Meriko, Roziah ., and Eti Sari M. "KAJIAN STRUKTUR DAN KARIOTIPE GADUNG (Dioscorea bulbifora L.) DI SUMATERA BARAT." MAKARA of Science Series 11, no. 1 (2010). http://dx.doi.org/10.7454/mss.v11i1.235.
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"Crop requirements and water losses in collective pressurized irrigation networks in Northern Greece." Issue 1 13, no. 1 (2013): 11–17. http://dx.doi.org/10.30955/gnj.000701.
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Water volume consumed for crop irrigation at the plain of Thessaloniki – northern Greece, was
 estimated and compared against the volume reported by the General Land Reclamation
 Organisation (G.L.R.O.) of Thessaloniki – Lagada. For the estimation of net crop water
 requirements, apart from crop evapotanspiration, the contribution of effective precipitation, soil
 moisture and the phreatic aquifer through capillary elevation were considered. Estimates were
 performed for five collective pressurized irrigation networks (P. Skilitsi, Nisi, Alexandria, Shinas,
 Kariotissa), located at the plain of Thessaloniki and referred to years 1995 to 2004 inclusive. River
 Aliakmonas is the main source of these networks. Results reveal considerable losses of irrigation
 water that are related to the management, operation and maintenance of the networks by the Local
 Land Reclamation Organizations (L.L.R.O.).
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Wantania, John J. E. "Recurrent spontaneous fetal loss (RSFL) pada sindrom antifosfolipid." JURNAL BIOMEDIK (JBM) 8, no. 2 (2016). http://dx.doi.org/10.35790/jbm.8.2.2016.12696.
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Abstract: Approximately 40-50% causes of recurrent spontaneous fetal death, often called the recurrent spontaneous fetal loss (RSFL), could not be identified so far. Antiphospholipid syndrome itself is one of the most common causes of RSFL and is responsible for approximately 16-36% of patients with RSFL. Various factors associated with the occurrence of the RSFL in APS are as follows: intrauterine growth restriction (IUGR), preeclampsia, premature placental separation, DVT, HELLP, and DIC at a normal fetal karyotype. Diagnosis includes clinical and laboratory criteria. Additional laboratory examinations have been developed and used to improve the predictive power and diagnostics. Repeat aPL antibodies examination may be required to increase the sensitivity and specificity of diagnosis. Other treatment options include the use of anticoagulants, corticosteroids, or any other modalities with regard to obsterics conditions.Keywords: recurrent spontaneus fetal loss, APSAbstrak: Sekitar 40-50% penyebab terjadinya kematian janin spontan berulang atau sering disebut pula dengan Recurrent Spontaneous Fetal Loss (RSFL) sampai saat ini tidak dapat diidentifikasi. Sindrom antifosfolipid sendiri adalah salah satu penyebab paling umum terjadinya RSFL dan bertanggung jawab pada sekitar 16-36% pasien dengan RSFL. Berbagai faktor yang terkait dengan terjadinya RSFL pada APS meliputi pertumbuhan janin intrauterin yang terhambat (IUGR), preeklampsia, pemisahan plasenta prematur, DVT, HELLP, dan DIC pada kariotipe janin yang normal. Diagnosis mencakup kriteria klinis dan laboratorium. Pemeriksaan laboratorium tambahan telah dikembangkan dan digunakan untuk meningkatkan kekuatan prediksi dan diagnostik. Pemeriksaan antibodi aPL berulang mungkin diperlukan untuk meningkatkan sensitivitas dan spesifisitas diagnosis. Pilihan penanganan antara lain dengan penggunaan antikoagulan, kortikosteroid, atau pun modalitas lain dengan tetap memperhatikan kondisi obsterik.Kata kunci: kematian janin spontan berulang, APS
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Wijayanti, U. N. "Low Insulin-like growth factor I (IGF-I) level underlying recurrent infection in congenital cystic adenomatoid malformation (CCAM) and MyelodysplasticSyndrome with Chromosome 5q Deletion." Medica Hospitalia : Journal of Clinical Medicine 3, no. 2 (2017). http://dx.doi.org/10.36408/mhjcm.v3i2.223.
Full textAbstract:
Background : Insulin-like growth factor I (IGF-I) is a polypeptide hormone produced mainly by the liver in response to the endocrine GH stimulus, but it is also secreted by multiple tissues for autocrine/paracrine purposes. IGF-I is partly responsible for systemic GH activities although it possesses a wide number of own properties (anabolic, antioxidant, anti-inflammatory and cytoprotective actions). IGF-I is a closely regulated hormone. Low IGF-1 level are observed in GH deficiency or GH resistence. If acquired in childhood, these condition result short stature. Currently the best characterized conditions of IGF-I deficiency are Laron Syndrome, in children; liver cirrhosis, in adults; aging including age-related-cardiovascular and neurological diseases; and more recently, intrauterine growth restriction. Most GH resistence in childhood is mild to moderate, with causes ranging from poor nutrition to severe systemic illness. The purpose of this case report is to summarize the decreasing list of roles of IGF-I underlying pathological desease. Case : The patients were hospitalized with short stature weight 18 kg, height 118 cm (under 3SD), The patient suffering chronic infection sience 2 years old with repeatly bronchiectasis infection. She has n't had menarche and episode Of hypoglycemia until nowand result examination Trigliseride : 95 mg/dl (normal : 30-150 ),Hemoglobin 8,1 g/dl, WBC 5,3 thousand/µl, Platelet 109 thousand/µl, Glucose 80 mg/dl, HDL: 21 mg/dl, LDL : 45 mg/dl, TSHs : 2,0 µIUmol/l, FT4: 12.16 ¾mol/l, Estradiol : < 11.80 pg/ml , FSH : 0.54 mlU/ml, LH : < 0.07 mlU/ml GH : 4.63 ng/ml, IGF-1 : < 25 ng/ml, Cranium scan no found tumor hypothalamic and pituitary, Bone marrow examination supports the diagnosis of MDS with multilineage dysplasia , MSCT of the thorax showed suspect cystic bronchiectasis, would be a Congenital Cystic AdenomatoidMalformation.and cytogenetic analized showed Chromosome number of single cell : 46, There were 20 cell been analized and 8 of cell were been counted Kariotipe : 46,XX,del 5q31. Conclusion : Low IGF-1 level in this patient due to severe systemic illness (recurrent infection of congenital cysticadenomatoid malformation (CCAM) and deletion 5qMyelodisplatia syndrome (MDS)and poor nutrition.