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All Journal Paediatrica Indonesiana Homeostasis: Jurnal Mahasiswa Pendidikan Dokter
Harapan Parlindungan Ringoringo
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Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Public Health

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Phenotypic diversity in beta-HbE thalassemia patients Pustika Amalia Wahidiyat; Djajadiman Gatot; Tenny Tjitrasari; Harapan Parlindungan Ringoringo; N S Marzuki; R A Taufani; I Setianingsih; A Harahap
Paediatrica Indonesiana Vol 46 No 2 (2006): March 2006
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi46.2.2006.82-6

Abstract

Background Thalassemia is a monogenic disease, yet the clini-cal manifestations (phenotype) are variable although they havethe same genotype. The clear-cut correlation between genotypeand phenotype in β-thalassaemia/HbE patients remains unex-plained. There are several factors that play a role in the severity ofthe clinical manifestations, i.e. two alpha-gene deletion, homozy-gote Xmn1 polymorphism +/+, -+-++, ++-++ haplotype, and hemo-globin Constant Spring.Objective To understand the clinical diversity of patients with HbE/α thalassemia and to determine whether it is possible to predictphenotypic severity from genetic factors.Methods A descriptive study on clinical presentations and hema-tological data of beta-HbE thalassemia patients. DNA analysis wasperformed to detect β-thalassemia mutations and the amelioratingfactors (alpha-globin genes deletions and Xmn1 restriction site poly-morphism at position –158 upstream of the G γ-globin gene) whichwere already known.Results Thirty patients with HbE/β thalassemia (4 to 29 years old)were recruited. IVS1-nt5 (G>C) severe β + mutation was detectedin 20 patients. Eighteen of 20 patients with positive IVS1-nt5 mu-tation group were heterozygous for Xmn1 restriction site polymor-phism and none of the patients was co-inherited with two á-globingene deletion. Almost all patients (19/20) with positive IVS1-nt5mutation group required regular transfusions, yet the mean age atfirst blood transfusion was older in negative IVS1-nt5 mutation groupthan that of positive IVS1-nt5 mutation group (5.7 vs 4 years). Meanhemoglobin before initial transfusion was higher in negative IVS1-nt5 mutation group than that of positive IVS1-nt5 mutation group(5.88 vs 5.39 g/dl). The mean total transfusion per year was lowerin the negative IVS1-nt5 mutation group than that of positive IVS1-nt5 mutation group (190.6 vs 215.1 ml/year).Conclusions Beta-HbE thalassemia patients with identical betathalassemia mutation (IVS1-nt5) show remarkable clinical diver-sity. Neither two alpha-gene deletion, nor the Xmn1- G γ polymor-phism can explain the phenotypic variation. Other amelioratingdeterminants or genetic modifications responsible for the variableclinical severity remain to be explored.
Ischiopagus Tetrapus Conjoined Twins Nartono Kadri; Harapan Parlindungan Ringoringo; Darmawan Kartono
Paediatrica Indonesiana Vol 36 No 7-8 (1996): July - August 1996
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (482.621 KB) | DOI: 10.14238/pi36.7-8.1996.169-76

Abstract

We report a case of ischiopagus tetrapus conjoined twins with one pas­sageway (cloaca type) and bom at term by spontaneously vaginal dcliveiy, with a combined birth weight of 5000 grams. There was no history of twin in the family. Dur­ing hospitalization, the conjoined twins suffered from sepsis due to ascending infection from cloacal portion, At the age of 17 days, an exploratory laparatomy and divided co­lostomy was performed. The postoperative complications were bleeding and sepsis. The bleeding could be properly handled only in 4 days after the treatment, whilst sepsis could not be overcome. Even in the 16th day after the operation, a peritonitis occurred followed by intestines prolapse from the edge of operative incision (on the 19th post­operative day) resulting in the death of the conjoined twins.
STATUS GIZI PADA ANAK YANG MENDERITA DEMAM TIFOID Intan Nur ‘Ain; Harapan Parlindungan Ringoringo; Nurul Hidayah; Roselina Panghiyangani; Rahmiati Rahmiati
Homeostasis Vol 6, No 1 (2023)
Publisher : Universitas Lambung Mangkurat

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20527/ht.v6i1.8793

Abstract

Bakteri Salmonella typhi menyebabkan demam tifoid, infeksi usus kecil yang parah. Usia, jenis kelamin, dan status gizi adalah tiga faktor yang sering diidentifikasi pada pasien demam tifoid yang masih anak-anak atau remaja. Pemeriksaan status gizi ini diambil menggunakan pengukuran antropometri. Riset ini bertujuan untuk menganalisis gambaran status gizi pada anak yang menderita demam tifoid di RSD Idaman Banjarbaru periode Oktober 2020-September 2022. Populasi riset ini sebanyak 51 pasien anak yaitu 25 balita dan 26 anak usia 5-18 tahun. Data yang digunakan ialah data sekunder dari RSD Idaman Banjarbaru. Hasil riset ini menunjukkan status gizi anak yang menderita demam tifoid berdasarkan usia mayoritas dialami pada usia 5-18 tahun sebanyak 26 anak (51%), berdasarkan jenis kelamin dialami oleh anak laki-laki sebanyak  32 anak (62.7%),  berdasarkan BB/U pada balita dengan gizi buruk sebanyak 11 anak (44%), berdasarkan PB/U atau TB/U pada balita dengan gizi buruk sebanyak 15 balita (60%), berdasarkan BB/PB atau BB/TB pada balita dengan buruk sebanyak 8 balita (32%), dan berdasarkan IMT/U pada anak dengan gizi buruk sebanyak 18 anak (35.3%). Kesimpulan dari riset ini anak yang menderita demam tifoid memiliki status gizi baik.
Co-Authors A Harahap Darmawan Kartono Djajadiman Gatot I Setianingsih Intan Nur ‘Ain N S Marzuki Nartono Kadri NURUL HIDAYAH Panghiyangani, Roselina Pustika Amalia Wahidiyat R A Taufani Rahmiati Rahmiati Tenny Tjitrasari