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All Journal Medika Kartika : Jurnal Kedokteran dan Kesehatan Hang Tuah Medical Journal Journal of Global Pharma Technology
Retno Dwi Wulandari
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Biochemistry, Genetics & Molecular Biology Dentistry Health Professions Medicine & Pharmacology Nursing Public Health Veterinary

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MUTASI GENETIK PADA KASUS GAGAP: STUDI PUSTAKA Komang Ari Bagus Suastika; Retno Dwi Wulandari
Medika Kartika : Jurnal Kedokteran dan Kesehatan Vol 5 No 4 (2022): Medika Kartika : Jurnal Kedokteran dan Kesehatan
Publisher : Fakultas Kedokteran Universitas Jenderal Achmad Yani

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Abstract

Gagap (stuttering) adalah suatu gangguan dalam berbicara yang ditandai dengan terjadinya pengulangan atau perpanjangan dan penghentian bunyi atau suku kata. Gagap dapat diderita oleh segala usia, terutama pada usia anak-anak (developmental stuttering) yang dapat menyebabkan gangguan kefasihan dan keterlambatan dalam hal berbicara. Insiden seseorang pernah mengalami gagap dalam hidupnya adalah sekitar 5% populasi dunia atau sekitar 60 juta orang. Studi menunjukkan terdapat beberapa gen yang berkaitan dengan terjadinya gagap. Mutasi pada gen tersebut merupakan faktor risiko gagap di kemudian hari. Studi Pustaka ini akan membahas mutasi genetik pada gagap dalam 4 bagian,yaitu (a) klasifikasi, (b) prevalensi, (c) patofisiologi, dan (d) etiologi. Sebagai kesimpulan, pada penderita gagap, gen yang mengalami mutasi, yaitu gen GNPTAB (kromosom 12q), GNPTG (kromosom 16p13.3), NAGPA (kromosom 16p.13.3), AP4E1 (kromosom 15q21.2), gen SLC6A3 (kromosom 5p15.3), dan DRD2 (kromosom 15q23), gen CYP17 dan CYP19 (kromosom 10q). Dari mutasi pada gen tersebut, yang paling sering ditemukan adalah mutasi pada gen GNPTAB, GNPTG, dan NAGPA. Perbedaan mutasi yang ditemukan dipengaruhi oleh perbedaan populasi dan besar sampel yang diteliti. Selain faktor genetik, terdapat faktor nongenetik sebagai faktor risiko gagap. Diperlukan penelitian untuk mengetahui mutasi gen pada kasus gagap di Indonesia, dan faktor yang memengaruhi ekspresi gen tersebut. Kata kunci: gagap, gen, mutasi DOI : 10.35990/mk.v5n4.p424-435
Hematologic and Clinical Features of Thalassemia Patients with Early or Late Onset Transfusion in East Java, Indonesia Retno Dwi Wulandari
Journal of Global Pharma Technology Volume 11 Issue 04.
Publisher : Journal of Global Pharma Technology

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Abstract

Thalassemia is a genetic disorder of hemoglobin production which causes chronic anemia. Complete blood count showed lower HbA, MCV, MCH, increase RDW-CV and increase HbA2 (>3,5%) and HbF (>1,5%). Thalassemia major patients need regular and lifelong blood transfusion which started early in life. Thalassemia intermedia, usually with milder symptoms, require blood transfusion at later age, with lower transfusion rate. This study aims to compare hematologic, HbA2 and HbF profiles as well as height, weight, Body Mass Index and spleen size in thalassemia patients grouped based on transfusion start whether in early or later age (before or after 10 yo). Results showed that the hematologic, HbA2 and HbF profiles were not significantly different in both groups. The clinical profiles i.e. Height and weight were below 3rd percentile in both groups; low BMI and more patients underwent splenectomy in group of those with early onset blood transfusion.Keywords: Thalassemia, Transfusion, Hematologic, Height, Weight, BMI.
Analisis Sitogenetika Pada Pasien Dengan Amenore Primer ODILIA YULIANI SISTRI; EVA DIAH SETIJOWATI; HERNI SUPRAPTI; RETNO DWI WULANDARI
Hang Tuah Medical Journal Vol 22 No 2 (2025): Hang Tuah Medical Journal
Publisher : Universitas Hang Tuah

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30649/htmj.v22i2.650

Abstract

Abstract Amenorrhea is defined as the absence of menstruation in women of reproductive age. It is called primary amenorrhea if a person has not menstruated until the age of 16 years with normal secondary sexual characteristics or until the age of 14 years but there are no signs of secondary sexual development. There are many factors that cause primary amenorrhea, such as pituitary/hypothalamic disorders, dysfunction and abnormalities of the vaginal and uterine outlets. These abnormalities are caused by abnormalities in the endocrine glands, genetic (genes and chromosomes), psychological, environmental and structural abnormalities. This study aims to determine chromosome analysis in patients with primary amenorrhea at the Medical Genetics Laboratory, Faculty of Medicine, Wijaya Kusuma University Surabaya. The study was an observational descriptive study. The population in this study were all medical records of primary amenorrhea patients and the samples in this study were medical records of patients with primary amenorrhea at the Medical Genetics Laboratory of the Faculty of Medicine, Wijaya Kusuma University Surabaya in 2018-2023 and met the inclusion and exclusion criteria. The inclusion criteria are as follows: patients with a history of primary amenorrhea and exclusion criteria are secondary amenorrhea (POF) Premature Ovarian Failure. From 75 samples of primary amenorrhea patients, 39 patients (52%) had normal karyotypes and 36 patients (48%) had abnormal karyotypes. The 36 patients with abnormal karyotypes can be classified into number abnormalities, structural abnormalities, and primary amenorrhea patients with 46.XY DSD karyotypes. The chromosome number abnormalities in the patients were 45.X (Turner syndrome) and Turner mosaicism. Structural abnormalities were chromosomal deletions, isochromosomes, and translocations.
Co-Authors EVA DIAH SETIJOWATI Herni Suprapti Komang Ari Bagus Suastika ODILIA YULIANI SISTRI