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Angga Januarsa Suryadi
"ABSTRAK
Tesis ini membahas perbandingan hasil dari pemeriksaan klasik aPL, dan aPS sehingga dokter, sebagai penyedia layanan kesehatan, dapat mengetahui pemeriksaan yang lebih baik dari pemeriksaan sebelumnya, yang berguna untuk menetapkan diagnosis maupun strategi penanganan selanjutnya..Penelitian ini dilakukan dengan desain potong lintang deskriptif.
Semua pasien hamil normal tidak memiliki satupun pemeriksaan klasik (LA, aCL dan anti-β2GPI) dan aPS yang positif. Dari penelitian ini, didapatkan pada pasien yang dicurigai APS tetapi memiliki hasil negatif terhadap aCL, anti- β2GPI , dan LA, ternyata sebanyak 5 (18,5%) pasien memiliki hasil positif pada pemeriksaan aPS.

ABSTRACT
This thesis discusses the comparison of the results of classical aPL and APS so the doctor, as health care providers, can know better inspection of previous examinations, which are useful to establish the diagnosis and treatment strategies. This study was a descriptive cross-sectional. All pregnant patients normally do not have any classic examination (LA, aCL and anti-β2GPI) and aPS were positive. It was found in patients with suspected APS, but has a negative result against aCL, anti- β2GPI, and LA, it turns out as many as 5 (18.5%) patients had positive results on the examination of the APS."
2015
SP-pdf
UI - Tugas Akhir  Universitas Indonesia Library
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Rikarni
"Latar Belakang: Sindrom antifosfolipid (antiphospholipid syndrome = APS) merupakan penyakit autoimun dengan gejala trombosis vena atau arteri, kematian janin berulang, dan peningkatan kadar antibodi antifosfolipid yang persisten. Sindrom antifosfolipid merupakan faktor risiko didapat yang paling sering dihubungkan dengan trombosis. Sampai saat ini efek antibodi anti-?2GP1 pada sistem koagulasi, antikoagulan alamiah dan sistem fibrinolisis masih belum jelas.
Tujuan: Menganalisis efek imunoglobulin (Ig)G dan IgM anti-beta-2 glikoprotein-1(?2GP1) terhadap ekspresi messenger RNA (mRNA) tissue factor (TF), mRNA trombomodulin (TM), dan mRNA plasminogen activator inhibitor-1(PAI-1) pada endotel.
Metode: Studi eksperimental dengan memajankan antibodi anti-?2GP1 pada human umbilical vein endothelial cells (HUVEC). Penelitian dilakukan di Rumah Sakit Ciptomangunkusumo/ Fakultas Kedokteran Universitas Indonesia. Sampel adalah IgG anti-?2GP1 dan IgM anti-?2GP1 dipurifikasi dari 6 pasien sindrom antifosfolipid. Kontrol adalah IgG dan IgM yang dipurifikasi dari orang sehat. HUVEC dipajan dengan IgG anti-?2GP1, IgM anti-?2GP1, IgG orang sehat, IgM orang sehat selama 4 jam. Pengukuran ekspresi relatif mRNA TF, mRNA TM, dan mRNA PAI-1 dilakukan sebelum dan sesudah pemajanan dengan metode real time reverse transcription polymerase chain reaction.
Hasil: Ekspresi relatif mRNA TF, mRNA TM, dan mRNA PAI-1 pada HUVEC yang dipajan dengan IgG anti-?2GP1 adalah (3,14 ± 0,93)-, (0,31 ± 0,13)-, (5,33 ± 2,75)-kali dibandingkan pada HUVEC yang dipajan dengan IgG orang sehat. Ekspresi relatif mRNA TF, mRNA TM, dan mRNA PAI-1 pada HUVEC yang dipajan IgM anti-?2GP1 adalah (4,33 ± 1,98)-, (0,33 ± 0,22)-, (5,47 ± 2.64)-kali dibandingkan pada HUVEC yang dipajan IgM orang sehat. Hasil analisis statistik, sebelum dan sesudah pemajanan HUVEC dengan IgG anti-?2GP1, memperlihatkan perbedaan bermakna ekspresi relatif mRNA TF (1,09 ± 0,76 berbanding 3,14 ± 0,93, p = 0,003), mRNA TM (0,91 ± 0,11 berbanding 0,31 ± 0,13, p = 0,001), dan mRNA PAI-1 (0,93 ± 0,13 berbanding 5,33 ± 2,75, p = 0,013). Hasil analisis statistik, sebelum dan sesudah pemajanan HUVEC dengan IgM anti-?2GP1 memperlihatkan perbedaan bermakna ekspresi relatif mRNA TF (1,03 ± 0,11 berbanding 4,33 ± 1,98, p = 0,008), mRNA TM (0,93 ± 0,08 berbanding 0,33 ± 0,22, p = 0,003), dan mRNA PAI-1 (1,02 ± 0,10 berbanding 5,47 ± 2,64, p = 0,01).
Kesimpulan: Pada penelitian ini terbukti bahwa IgG anti-?2GP1 dan IgM anti- ?2GP1 mempunyai efek protrombotik pada sel endotel dengan meningkatkan mRNA TF dan mRNA PAI-1, serta menurunkan mRNA trombomodulin. Hasil penelitian ini menyimpulkan bahwa mekanisme trombosis pada APS dapat terjadi melalui peningkatan aktivasi koagulasi, penurunan aktivitas fibrinolisis dan penurunan aktivitas antikoagulan.

Background: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by venous or arterial thrombosis, recurrent pregnancy morbidity and the presence of persistent antiphospholipid antibodies. The antiphospholipid syndrome is the most common acquired risk factor of thrombosis. Until now, the effect of anti-?2GP1 antibodies on coagulation system, natural anticoagulant and fibrinolytic`system has not been completely understood.
Objectives: To analyse the effects of IgG and IgM anti-beta-2 glycoprotein-1 (anti-?2GP1) on the expression of tissue factor (TF), thrombomodulin (TM), and plasminogen activator inhibitor-1(PAI-1) of endothelial cells in the messenger RNA level.
Methods: Experimental study in human umbilical vein endothelial cells (HUVEC) was done at Cipto Mangunkusumo Hospital/ Faculty of Medicine, Universitas Indonesia. Samples are purified immunoglobulin(Ig)G anti-?2GP1 and IgM anti-?2GP1 from six APS patients serum. For controls, purified IgG and IgM from normal human serum (IgG-NHS and IgM-NHS) were used. HUVEC were treated with purified IgG anti-?2GP1, IgM anti-?2GP1, IgG-NHS, IgM-NHS for four hours of incubation. We measured TF, TM, and PAI-1 of HUVEC in mRNA relative expression levels (before and after treatment) by real time reverse transcription polymerase chain reaction.
Results: The mean value of TF, TM, and PAI-1 mRNA levels in HUVEC after treated with IgG anti-?2GP1 compared to Ig-NHS were (3.14 ± 0.93)-, (0.31 ± 0.13)-, (5.33 ± 2.75)-fold respectively. On the other hand, after treated with IgM anti-?2GP1 compared to IgM-NHS, mRNA levels of TF, TM, and PAI-1 were (4.33 ± 1.98)-, (0.33 ± 0.22)-, (5.47 ± 2.64)-fold respectively. Before and after treatment with IgG anti-?2GP1, this study showed significant differences of TF mRNA levels (1.09 ± 0.76 versus 3.14 ± 0.93, p = 0.003), TM mRNA levels (0.91 ± 0.11 versus 0.31 ± 0.13, p = 0.001), and PAI-1 mRNA levels (0.93 ± 0.13 versus 5.33 ± 2.75, p = 0.013). Before and after treatment with IgM anti-?2GP1, this study showed significant differences of TF mRNA levels (1.03 ± 0.11 versus 4.33 ± 1.98, p = 0.008), TM mRNA levels (0.93 ± 0.08 versus 0.33 ± 0.22, p = 0.003), and PAI-1 mRNA levels (1.02 ± 0.10 versus 5.47 ± 2.64, p = 0.01).
Conclusion: This study has proven that IgG anti-?2GP1 and IgM anti-?2GP1 increase TF and PAI-1 mRNA levels in endothelial cells. However, IgG anti-?2GP1 and IgM anti-?2GP1 decrease TM mRNA levels in endothelial cells. It has shown that the mechanism of thrombosis in APS occurs through coagulation activation, reduction of fibrinolysis activity, and reduction of anticoagulant activity
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Jakarta: Fakultas Kedokteran Universitas Indonesia, 2014
D-pdf
UI - Disertasi Membership  Universitas Indonesia Library
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Hughes, Graham
"Hughes syndrome : the antiphospholipid syndrome : a guide for students provides an in-depth analysis into the main effects of hughes syndrome.
In 1983, Dr Graham Hughes, and his team in London, described a syndrome and subsequently developed simple blood tests to diagnose the condition. This syndrome is characterised by thrombosis (both in limbs and internal organs), headaches, memory loss, strokes and, in pregnant women, placental clotting and recurrent miscarriage. The syndrome, now known worldwide as Hughes syndrome, or the antiphospholipid syndrome, is common, being responsible for example, for up to 1 in 5 cases of young stroke and more importantly, it is treatable."
London : Springer, 2012
e20426070
eBooks  Universitas Indonesia Library
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Erkan, Doruk, editor
"The International Congress on Antiphospholipid Antibodies is held every three years to discuss the recent advances and future directions in Antiphospholipid Syndrome (APS). This volume collects the scientific highlights and new findings about APS that were generated from the most recent 13th congress, held in Galveston, Texas in 2010. Chapters were written by an internationally-distinguished group of scientists from the point-of-view of multiple specialty areas. Each chapter was written in a uniform and systematic basis to present the latest evidence-based research, including the basic science of APS, task force reports from the congress on controversial aspects of APS, and future directions of APS research. "
New York: Springer Science, 2012
e20420980
eBooks  Universitas Indonesia Library
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Mala Kurniati
"LATAR BELAKANG: Anti Mullerian Hormon (AMH) adalah anggota dari golongan Transforming Growth Factor-β yang berperan dalam pengaturan folikuligenesis pada reproduksi wanita. Peningkatan kadar AMH 2 sampai 3 kali dijumpai pada pasien SOPK (Sindrom Ovarium Polikistik) daripada wanita dengan ovulasi normal. Pada penelitian ini dideteksi varian sekuen disepanjang daerah promoter gen AMH. Adanya variasi promoter gen AMH diduga mempengaruhi proses transkripsi gen AMH yang selanjutnya berimplikasi pada pembentukan protein AMH. Apabila terjadi gangguan pada pembentukan protein AMH maka akan berpengaruh terhadap kadar protein tersebut di dalam darah.
BAHAN DAN CARA KERJA: Sampel penelitian ini berjumlah 114 pasien yang terdiri dari 60 pasien SOPK dan 54 pasien non SOPK (Kontrol). Kadar AMH dan Jumlah folikel antral didapatkan dari data rekam medik pasien Klinik IVF Yasmin, RSCM Kencana Jakarta. Analisis molekuler dan genotyping dilakukan dengan teknik PCR dan sekuensing kemudian dilanjutkan dengan analisis bioinformatika.
HASIL : Dari penelitian ini ditemukan 60 titik varian mutasi promoter gen AMH. Jenis varian mutasi terbesar yang ditemukan adalah -674 G/A (100 %), -245 C/CT (88,2 %), dan -444 A/G (17,9 %) dari seluruh sampel. Berdasarkan hasil uji Wilcoxon Signed Ranks, pada kelompok SOPK ditemukan jumlah mutasi yang terjadi berpengaruh secara bermakna terhadap kadar AMH dan jumlah folikel antral (p<0,05). Pada kelompok kontrol ditemukan bahwa jumlah mutasi tidak berpengaruh secara bermakna terhadap kadar AMH (p>0,05), tetapi berpengaruh secara bermakna terhadap jumlah folikel antral (p<0.05). Ditemukan 60 titik varian pada promoter gen AMH. Jumlah mutasi pada promoter gen AMH berpengaruh terhadap kadar AMH dan jumlah folikel antral pada SOPK. Mutasi pada titik -674 G/A merupakan titik mutasi baru yang belum pernah dilaporkan oleh NCBI, ditemukan pada seluruh subyek penelitian baik kelompok SOPK maupun non SOPK.

INTRODUCTION : Anti-Mullerian Hormone (AMH) is a member of the Transforming Growth Factor-β group which plays an important role in the regulation of the female reproductive folliculogenesis. A 2-3 fold increase in AMH levels was found in patients with PCOS (Polycystic Ovary Syndrome) compared to women with normal ovulation. This study detected sequence variants in the AMH gene promoter region. The AMH gene promoter variation is thought to affect AMH gene transcription process implicated in the formation of proteins. In the event of disruption in the formation of these AMH proteins, the levels of these proteins in the blood will be affected. The purpose of this study was to detect variants of AMH gene promoter sequences.
MATERIALS AND METHODS: The sample size was 114 patients consisting of 60 PCOS patients and 54 non-PCOS patients as control. The AMH levels and anthral follicle number obtained from the patients? medical records of the Yasmin IVF Clinic, RSCM Kencana Hospital, Jakarta. Molecular analysis and genotyping were performed by PCR and sequencing was followed by bioinformatics analysis.
RESULTS: There were 60 point mutations in the AMH gene promoter variants. The highest variant types of mutations found was -674 G/A (100%), followed by -245 C/CT (88.2%), and -444 A/G (17.9%) in the entire sample. Based on the results of the Wilcoxon Signed Rank test, the number of mutations in the PCOS group were significant to effect the serum AMH level and the anthral follicle number (p<0.05). In the control group, the number of mutations had no significant effect on the levels of AMH (p>0.05), but significantly affected the number of anthral follicles (P<0.05). There were 60 point variances in the AMH gene promoter. The number of mutations in the gene promoter affected serum AMH levels and the number of anthral follicles in PCOS. A new point mutation was found in all subjects at position -674 G/A, which have not been reported by the NCBI.
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Jakarta: Fakultas Kedokteran Universitas Indonesia, 2014
T-Pdf
UI - Tesis Membership  Universitas Indonesia Library
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Chrispian Oktafbipian Mamudi
"ABSTRAK
Latar Belakang: Angka mortalitas ARDS khususnya di RSCM masih tinggi, sebesar 75,3%. Prokalsitonin dan CRP bisa dipakai sebagai prediktor mortalitas pada ARDS. Saat ini belum didapatkan penelitian yang fokus pada peran PCT dan CRP sebagai prediktor mortalitas tujuh hari pada pasien ARDS di Indonesia.
Tujuan: Mengetahui peran PCT dan CRP sebagai prediktor mortalitas tujuh hari pada pasien ARDS di RSCM.
Metode: Penelitian ini menggunakan disain kohort prospektif yang dilakukan secara konsekutif pada pasien ARDS di RSCM, November 2015-Januari 2016. Saat pasien didiagnosis ARDS, dalam 6-24 jam dilakukan pemeriksaan PCT dan CRP, diobservasi selama tujuh hari, lalu dilakukan analisis statistik. Data kategorikal disajikan dalam jumlah dan persentase. Data numerik dengan sebaran tidak normal disajikan dalam bentuk median dan rentang. Variabel faktor-faktor yang memengaruhi mortalitas diuji dengan analisis bivariat (menggunakan uji Mann Whitney bila memenuhi persyaratan distribusi tidak normal). Untuk menentukan cutoff PCT dan CRP dipakai kurva ROC dengan mencari sensitivitas dan spesifisitas yang terbaik.
Hasil: Dari 66 pasien ARDS, didapatkan 40 (60,61%) meninggal dan 26 (39,39%) hidup. Uji normalitas PCT dan CRP didapatkan distribusi dari data-data tersebut tidak normal. Dengan uji Kolmogorov-Smirnov didapatkan p<0,05. Median PCT pada yang meninggal sebesar 4,18 (0,08-343,0) dibandingkan yang hidup sebesar 3,01 (0,11-252,30) p=0,390, AUC 0,563 (IK 95% 0,423-0,703). Median CRP pada yang meninggal sebesar 130,85 (9,20-627,78) dibandingkan yang hidup sebesar 111,60 (0,10-623,77) p=0,408, AUC 0,561 (IK 95% 0,415-0,706).
Simpulan: Pemeriksaan PCT dan CRP hari pertama pada penelitian ini belum dapat digunakan sebagai prediktor mortalitas tujuh hari pada pasien ARDS.
Kata kunci: ARDS, CRP, mortalitas, PCT

ABSTRACT
Background: The mortality rate of ARDS, specifically in RSCM is still high, that is of 75.3%. Procalcitonin and CRP can be used as mortality prediktor on ARDS. Until today there is no research focusing in the role of PCT and CRP as seventh day mortality predictor on ARDS patients in Indonesia.
Objectives: To identify the role of PCT and CRP as mortality predictors on seventh day of ARDS patients in RSCM.
Methods: This research used a prospective cohort design that was done consecutively on ARDS patients in RSCM during November 2015 to January 2016. When a patient was diagnosed with ARDS, within the next 6-24 hours, the PCT and CRP test were run and an observation was done for seven days, and a statistical analysis followed after. The categorical data descriptions are presented in numbers and percentage. Numerical data with abnormal distribution are presented in the forms of medians and spans. The variables of the factors that influence mortality were tested by using bivariate analysis (using Mann Whitney’s test whenever they met the conditions of abnormal distribution). To determine the PCT and CRP cutoff (values), the ROC curve is used to search for the best sensitivity and specificity.
Results: Out of the 66 patients ARDS, 40 (60.61%) died and 26 (39.39%) survived. The PCT and CRP normality tests results obtained from the distribution of those data are not normal. By using the Kolmogorov-Smirnov the value of p<0.05 was obtained. The PCT median on those who died is 4.18 (0.08-343.0) compared to those who survived that is 3.01 (0.11-252.30) p=0.390, AUC 0.563 (CI 95% 0.423-0.703). CRP median on those who died is 130.85 (9.20-627.78) compared to those who survived that is 111.60 (0.10-623.77) p=0,408, AUC 0.561 (CI 95% 0.415-0.706).
Conclusions:, The PCT and CRP tests on first day in this research are not yet available to be used as mortality predictor on seventh day of ARDS patients.
Key words : ARDS, CRP, mortality, PCT"
2016
SP-pdf
UI - Tugas Akhir  Universitas Indonesia Library
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Johanes Poerwoto
"Latar belakang. Berat badan lebih dan obesitas sebagai masalah kesehatan juga ditemukan di Indonesia. Obesitas berkaitan dengan sindrom metabolik, yang juga dapat ditemukan pada populasi dengan berat badan normal.
Tujuan. Untuk melihat perbedaan proporsi sindrom metabolik (menurut kriteria NCEP-ATP III, dan modifikasi Asia Pasifik) pada populasi wanita obes (IMT > 25 kglm2 ) dan non-obes (IMT 18,5 - 24,9 kglm2), serta profil komponen sindrom metabolik.
Metode. Penelitian bersifat deskriptif analitik, dilakukan pada bulan Desember 2003 - Juni 2005, di Pali Lipid dan Obesitas, Divisi Metabolik Endokrinologi RSCM. Subyek ialah perawat wanita di RSCM, berusia 20 hingga 50 tahun. Jumlah responden ialah 45 subyek obes, dan 45 non-obes.
Hasil. Dari 90 responden total, 12 (26,7 %) subyek obes memenuhi kriteria sindrom metabolik menurut NCEP-ATP III. Menggunakan kriteria modifikasi Asia Pasifik, didapatkan 14 (31,1 %) subyek obes mengalami sindrom metabolik. Tidak ada subyek non-obes yang memenuhi kriteria sindrom metabolik [p < 0,0011 Tiga puluh (66,7 %) subyek obes mempunyai lingkar pinggang > 88 cm, dibandingkan 0 (0,0 %) subyek non-obes. Empat (8,9 %) subyek obes mempunyai tekanan darah 130185 mmHg, pada kelompok non-obes hanya 1 (2,2 %) subyek. Tiga (6,7 %) subyek obes memiliki kadar glukosa darah puasa a. 110 mg/dL atau merupakan pasien DM tipe 2 yang mendapat obat hipoglikemik oral, sedangkan pada kelompok non-obes tidak ada_ Tigabelas (28,9 %) subyek obes mempunyai kadar trigliserida 150 mgIdL, dan tidak ada pada kelompok non-obes. Kadar kolesterol HDL < 50 mg/dL didapatkan pada 26 (57,8 %) subyek obes, dan 9 (20,0 %) pada subyek non-obes.
Simpulan. Sindrom metabolik hanya ditemukan pada populasi perawat wanita obes.

Backgrounds. Overweight and obesity as health problems are also found in Indonesia. Obesity is related to metabolic syndrome, which can also occurs in normal weight population.
Objectives. To look at the difference in metabolic syndrome (according to NCEPATP III criteria, and modified Asia Pacific criteria) proportion within obese female population (BMI > 25 kg/m2 ) and non-obese female population (BMI 18,5 -- 24,9 kg/m2), and the profile of metabolic syndrome components.
Methods. This cross sectional study was conducted from December 2003 to June 2005, at Lipid and Obesity Clinic, Metabolic and Endocrinology Division, Department of Internal Medicine, University of Indonesia - Cipto Mangunkusumo General Hospital. Subjects were Cipto Mangunkusumo General Hospital female nurses, ages 20 to 50 years old. The first group consisted of 45 obese subjects, and the second group of 45 non-obese persons.
Results. Twelve (26.7 %) of obese subjects fulfilled the NCEP-ATP III criteria for metabolic syndrome. Using the modified Asia Pacific criteria, there were 14 (31.1 %). None of the non-obese subjects fulfilled any of those two criteria [p < 0.001]. Thirty (66.7 %) of obese subjects had waist circumference > 88 cm, as compared to none of non-obese subjects. Four (8.9 %) of the obese subjects had blood pressure
130185 mmHg, as compared to only 1 (2.2 %) in non-obese subjects. Only 3 (6.7 %) of the obese subjects had fasting glucose levels > 110 mg/dL or had been diagnosed as DM type 2 patient and receiving oral hypoglycemic drug, whereas none of the non-obese subjects. Thirteen (28.9 %) of the obese subjects had triglyceride level > 150 mg/dL, and none of non-obese subjects. HDL-cholesterol level < 50 mg/dL was found in 26 (57.8 %) of obese subjects, and 9 (20.0 %) of non-obese subjects.
Conclusions. Metabolic syndrome was found only in obese female nurses.
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Depok: Universitas Indonesia, 2006
T58500
UI - Tesis Membership  Universitas Indonesia Library
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Vinchia
"Pasien trisomi21 memiliki peningkatan resiko leukemia terutama tipe Leukemia Mielositik Akut(LMA). Proses leukemogenesis terjadi dalam 3 hit. Hit pertama adalah trisomi 21, hit kedua adalah varian gen GATA1 dan hit ketiga adalah mutasi somatik lainnya. Hit pertama dan kedua cukup untuk menyebabkan Transient Abnormal Myelopoiesis (TAM). Tujuan penelitian ini adalah mengetahui pola varian gen GATA1 dalam memengaruhi TAM. Penelitian ini merupakan penelitian deskriptif. Pasien dianamnesa dan dilakukan pengambilan darah untuk pemeriksaan patologi klinik dan ekstraksi DNA. DNA akan dilakukan PCR, elektroforesis dan Sanger Sequencing. Data akan dilakukan analisis bioinformatik. Subyek terbanyak berusia 0-1 bulan(45,75%), dilahirkan oleh ibu <35 tahun(78,1%) dan lebih banyak dijumpai pada kehamilan multipara(71,8%). Kelainan laboratorium yang paling sering adalah anemia, dan lebih banyak dijumpai pada pasien 0-1 bulan, kelahiran aterm dari ibu primipara. Dari hasil analisis bioinformatik ditemukan 79 varian dan pada 32 pasien, di antaranya 10 silent, 67 missense dan 2 nonsense. Pada pengujian patogenisitas, nonsense mutation dapat diklasifikasikan sebagai pathogenic. Pada pasien TAM lebih banyak dijumpai hanya gejala laboratorium(62.5%) daripada pasien dengan gejala klinis dan laboratorium(37.5%). Keseluruhan varian nonsense menunjukkan gejala klinis dan laboratorium, pada varian missense didapatkan 47,7% sampel hanya dengan gejala laboratorium, sedangkan pada silent variant didapatkan 30% sampel dengan gejala laboratorium.

Trisomy21 have increased risk of Acute Myelocytic Leukemia(AML). Leukemogenesis occurs in 3 hits. The first hit was trisomy21, the second hit was GATA1 gene variant and third hit was somatic mutation. The first and second hit were enough to cause Transient Abnormal Myelopoiesis(TAM). The purpose of this study was to determine the variant of GATA1 gene in influencing TAM. This research is descriptive cross-sectional research. Anamnesis dan physical examination will be done. Blood samples will be taken. DNA will be further processed through PCR, electrophoresis and Sanger Sequencing. The data will be analyzed bioinformatically. Most subjects were aged 0-1month(45.75%), borned to mothers <35years (78.1%) and were more common in multiparous pregnancies(71.8%). The most frequent laboratory abnormalities are anemia, these are more common in patients aged 0-1month, born aterm from primiparous mothers. From the results of bioinformatic analysis, 79 variants were found in 32patients, of which 10were silent, 67were missense and 2were nonsense. In pathogenicity testing, we found this nonsense variant is pathogenic. TAM patients were frequently found with laboratory symptoms only(62.5%). All of the nonsense variants show clinical and laboratory symptoms. In missense variant, 47.7% of the samples only show laboratory symptoms, while 30%silent variant shows laboratory symptoms only."
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2023
T-pdf
UI - Tesis Membership  Universitas Indonesia Library
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Rumentalia Sulistini
"Chronic Kidney Disease merupakan kumpulan sindrom klinik dengan penurunan fungsi ginjal progresif. Prevalensi fatigue tinggi pada pasien hemodialisis. Penelitian ini bertujuan menjelaskan faktor yang berhubungan dengan Fatigue pada pasien yang menjalani hemodialisis. Desain penelitian analitik observasional. Teknik non probability sampling. Hasil penelitian tidak ada hubungan tingkat fatigue dengan pekerjaan (p= 0,732; α= 0,05), status dukungan (p= 0,679; α= 0,05), jenis kelamin (p= 0,914; α= 0,05), frekuensi (p= 0,676; α= 0,05), jarak fasilitas (p= 0,149; α= 0,05), komplikasi (p= 0,062; α= 0,05), merokok (p= 0,062; α= 0,05), alkohol (p= 0,075; α= 0,05), riwayat penyakit (p= 0,42; α= 0,05), dan status nutrisi (p= 0,168; α= 0,05). Ada hubungan tingkat fatigue dengan latihan fisik (p= 0,027; α= 0,05), lama menjalani hemodialisis (p= 0,019; α= 0,05), kadar hemoglobin (p= 0,029; α= 0,05), penghasilan (p= 0,07; α= 0,05), dan pendidikan (p= 0,040; α= 0.05). Faktor dominan adalah penghasilan. Perawat hemodialisis diharapkan memonitoring fatigue, memberikan pendidikan kesehatan tentang latihan fisik dan memberikan asuhan keperawatan holistik.

Chronic Kidney Disease is set of clinic syndrome with progressive degradation of kidney function. High Prevalent fatigue at patient hemodialysis. This Research was aimed to explain the factor related to fatigue in patients undergoing hemodialysis. This Research was observational analytic research. Technique sample was non probability sampling Research result was norelation between level fatigue and job status (p= 0.732; α= 0.05), gender (p= 0.914; α= 0.05), support status (p= 0.679; α=0.05), frequency (p= 0.676; α= 0.05), facility distance (p= 0.149; α= 0.05), complication (p= 0.062; α= 0.05), smoking habits(p= 0.062; α= 0.05) and alcohol habits (p= 0.075; α= 0.05), disease history (p= 0.42; α= 0.05), nutrition status (p= 0.168;α= 0.05). There was relation between level fatigue and physical exercises (p= 0.027; α= 0.05), duration of hemodialysis (p=0.019; α= 0.05) and level of hemoglobin (p= 0.029; α= 0.05), income (p= 0.07; α= 0.05), and education level (p= 0.040; α=0.05). The dominant factor was income. Hemodialysis nurses are expected monitor fatique and give health education about physical practice and give holistic nursing care."
Poltekkes Depkes Palembang Keperawatan Medikal Bedah ; Universitas Indonesia. Fakultas Ilmu Keperawatan, 2012
610 UI-JKI 15:2 (2012)
Artikel Jurnal  Universitas Indonesia Library
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Fina Devy Aryanti
"Sindrom Down merupakan kelainan genetik yang dikarakteristikkan dengan keterlambatan perkembangan yang dapat mempengaruhi kemandirian anak. Penelitian ini bertujuan untuk mengetahui tingkat kemandirian dalam pemenuhan aktivitas sehari-hari pada anak dengan sindrom Down usia sekolah dan remaja dengan menggunakan metode deskriptif kuantitatif non-eksperimen. Responden penelitian berjumlah 43 orang tua/ pengasuh anak dengan sindrom Down di Kota Depok.
Hasil penelitian menunjukkan mayoritas anak berada dalam kategori mandiri sebagian: 31 anak (72,1%); selebihnya mandiri total: 7 anak (16,3%) dan ketergantungan total: 5 anak (11,6%). Untuk itu, diperlukan pendidikan kesehatan dan dukungan emosional bagi keluarga, untuk mencapai kemandirian yang optimal pada anak dengan sindrom Down.

Down syndrome is a genetic disorder which characterized by lack of developmental that may affect the child's independence. This study aims to determine the level of independence of child with Down syndrome in school age and adolescents. This study used descriptive quantitative non-experimental approach with 43 parents or caregivers of child with Down syndrome in Depok.
The result showed that the majority of respondents belongs to modified independence: 31 children (72,1%), while respondents who belongs to total independence: 7 children (16,3%) and total dependence: 5 children (16,3%). For the reason, health education and emotional support for families is needed to achieve optimum independence in children with Down syndrome.
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Depok: Fakultas Ilmu Keperawatan Universitas Indonesia, 2013
S52891
UI - Skripsi Membership  Universitas Indonesia Library
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