Background Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract in neonates. Three polymorphisms, rs2435357, within a conserved transcriptional enhancer of RET, and, rs7835688 and rs16879552, within intron 1 of NRG1, have been shown to be associated with isolated forms of HSCR. We wished to replicate these findings, and study the interactions between these variants, in Indonesian HSCR patients. Methods Sixty isolated HSCR patients and 124 controls were ascertained for this study. The three genetic markers were examined using TaqMan Genotyping Assays in genomic DNA for association studies. Results RET rs2435357 showed the strongest association with HSCR both by case–control analysis (p = 2.5 × 10−8) and transmission disequilibrium test (p = 4.2 × 10−6). NRG1 rs7835688 was modestly associated with HSCR only by case–control analysis (p = 4.3 × 10−3), whereas rs16879552 demonstrated no association (p > 0.097). Two locus analyses of variants showed significant interactions with increased and decreased disease risks of HSCR at NRG1 but conditional on rs2435357 genotype. Conclusions RET and NRG1 variants are common susceptibility factors for HSCR in Indonesia. These common variants demonstrate that development of HSCR requires joint effects of RET and NRG1 early in gut development.
BackgroundMany biomarkers for diagnosis of acute appendicitis in children have been reported, however, the results are still controversial. We assessed the accuracy of neutrophil-lymphocyte ratio (NLR) for diagnosis of acute appendicitis and discriminating simple and complicated appendicitis in children.MethodsWe included 121 patients with acute appendicitis and 49 children with intussusception as controls who were admitted at our hospital from 2013 to 2017. White blood count (WBC), neutrophil, and NLR were compared between groups.ResultsNeutrophil and NLR were significantly higher in the acute appendicitis group than control (76.17 ± 14.41 vs. 62.43 ± 15.9%, p=<0.0001; and 8.44 ± 6.63 vs. 3.38 ± 2.84, p=<0.0001, respectively), while WBC, neutrophil, and NLR were significantly greater in complicated than simple appendicitis (15.86 ± 6.48 vs. 12.64 ± 6.27 × 103/μL, p = 0,008; 82.64 ± 8.41 vs. 68.99 ± 16.23%, p=<0.0001; and 11.32 ± 6.87 vs. 5.25 ± 4.65, p=<0.0001, respectively). The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), area under the receiver operating characteristic (ROC) curve, and cutoff point of NLR for diagnosis of acute appendicitis were 83.5%, 57.7%, 81.4%, 61.2%, 0.764, and 2.87, respectively; whereas the sensitivity, specificity, PPV, NPV, area under the ROC curve, and cutoff point of NLR for differentiating complicated and simple appendicitis were 84.6%, 56.5%, 35.5%, 92.9%, 0.790, and 6.59, respectively.ConclusionNLR shows a high accuracy for diagnosis of acute appendicitis and distinguishing a complicated appendicitis from the simple one.
SEMA3 rs12707682 and rs1583147 variants are not common risk factors for HSCR in Indonesia. The rarity of the SEMA3 rs11766001 polymorphism in Indonesian population might be due to a founder effect.
We investigated the effect of RET c.2307T.G polymorphism on the outcomes of posterior sagittal neurectomy for Hirschsprung disease (PSNHD) procedure in Indonesia. Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of enteric ganglia along variable lengths of the intestine in neonates. The RET c.2307T.G polymorphism has been shown to be associated with HSCR. Many surgical techniques with some advantage and disadvantage were established for HSCR. We have conducted PSNHD in short-segment HSCR patients.Thirty-one nonsyndromic HSCR patients underwent PSNHD. The polymorphism was determined using PCR-RFLP in genomic DNA. The rate of enterocolitis and constipation outcomes following PSNHD were 6 (19%) and 4 (13%) patients, respectively. The RET c.2307T.G polymorphism did not influence either enterocolitis or constipation outcome following PSNHD at P value of 0.07 (OR ¼ 0.28; 95% CI ¼ 0.08-1.05) and 0.67 (OR ¼ 0.58; 95% CI ¼ 0.12-2.76), respectively. Our study suggested that RET c.2307T.G polymorphism may not affect outcomes of PSNHD procedure in Indonesia. Furthermore, a multicenter study with a larger sample size is necessary to clarify this result.
Conjoined twins are rare occurrences in medical practice. In this study, two cases of conjoined twins, parapagus dicephalus and ischiopagus tetrapus are reported in Dr. Sardjito General Hospital, Yogyakarta, Indonesia. The first case i.e. five-day-old male parapagus dicephalus conjoined twins referred to the hospital. The twins have two heads, two arms and two legs. X-ray examination reveals two vertebrae collumn, single heart, and single pelvis. Moreover ultrasonography examination reveals conjoining of liver and echocardiography examinatin reveals single atrium. The twins were diagnosed as parapagus dicephalus. As a result of their fusion, operative care had been considered to be unacceptable. After several weeks in neonatal intensive care, they died. The second case i.e. two-day-old female conjoined twins with conjoining at ischium region referred to the hospital. Ultrasonography and abdominal examination reveal conjoining at intestinum, buttock and ischium. The twins was diagnsed as ischiopagus tetrapus. They were successfully separated at 6 months of age. They are alive and well so far for more than 7 years. In conclusion, the prognosis of conjoined twins is related to the type, extent of union and organ abnormalities. The successful separation of conjoined twins might be determined by good planning and staff enthusiasm and dedication. ABSTRAKBayi kembar siam adalah kejadian langkan di dunia kedokteran. Dalam makalah ini dilaporkan dua kasus bayi kembar siam yaitu parapagus dicephalus dan ischiopagus tetrapus di Rumah Sakit Umum Dr. Sardjito, Yogyakarta, Indonesia. Kasus I adalah bayi kembar siam laki-laki berumur lima hari dikirim ke rumah sakit. Bayi kembar siam tersebut mempunyai dua kepala, dua lengan dan dua kaki. Hasil pemeriksaan rontgen didapatkan dua kolumna vertebralis, satu jantung dan satu panggul. Selanjutnya hasil pemeriksaan ultrasonografi menunjukkan penyatuan liver sedangkan hasil pemeriksaan ekokardiografi menunjukkan satu atrium. Penderita didiagnosis sebagai parapagus dicephalus. Akibat penyatuan organ ini tindakan operasi tidak memungkinkan dilakukan. Setelah beberapa minggu dalam perawatan intensif, bayi kembar siam tersebut meninggal. Kasus II adalah bayi kembar siam perempuan berumur dua hari dengan penyatuan pada pantat dikirim ke rumah sakit. Hasil pemeriksaan ultrasonografi dan scanning abdomen menunjukkan adanya penyatuan pada usus, pantat, dan panggul. Penderita didiagnosis sebagai ischiopagus tetrapus. Operasi pemisahan berhasil dilakukan dengan baik pada umur 6 bulan. Mereka hidup sehat dan baik sejauh ini setelah tujuh tahun sejak dipisahkan. Dapat disimpulkan, prognosis kembar siam tergantung jenis dan tingkat penyatuan serta kelainan organ bayi. Keberhasilan pemisahan bayi kembar siam ditentukan oleh perencanaan operasi yang baik, dedikasi dan semangat tenaga medik dalam menjalankan tugasnya.
Acute appendicitis is the most common surgical cause of acute abdominal pain in children. Perforated appendicitis is the major complication of acute appendicitis with incidence in children of 30-40%. Perforated appendicitis should be operated immediately along with the administration of broad-spectrum antibiotics. The aim of this study isto analyze the microbiological profile and determine the antimicrobial susceptibility in children with perforated appendicitis at Dr. Sardjito General Hospital, Yogyakarta, Indonesia.We analyzed the pus from the perforated appendicitis patients who underwent surgery at Dr. SardjitoGeneral Hospital from January 2005 to September 2009. Escherichia coli (43%) was the most common aerobic bacteria found in children with perforated appendicitis, followed by Pseudomonas aeruginosa (26%), Klebsiellapneumonia (11%), Streptococcus (11%), and Proteus mirabilis (3%).The most sensitive antibiotics were imipenem, phosphomycin, amikacin and netilmicin, followed by the 4 th and the 3 rd generation of cephalosporin, amoxicillin, ampicillin, and trimethoprim/sulfamethoxazole. In addition, there was no statistically significant difference in terms of resistant and sensitivity between the 4 th generation cephalosporin compared to phosphomycin, netilmicin, or imipenem (p > 0.05). In conclusion, the most common bacteria found in perforated appendicitis in Dr. Sardjito General Hospital is E.coli. The administration of the 4 th generation of cephalosporin might be appropriate for the children with perforated appendicitis. ABSTRAKAppendisitis adalah penyebab terbanyak akut abdomen yang memerlukan pembedahan pada anak. Komplikasi apendisitis adalah perforasi dan insidensinya pada anak 30-40%. Terapi apendisitis perforasi yaitu operasi segera dengan pemberian antibiotica berspektrum luas. Tujuan penelitian adalah untuk menganalisis profil mikrobiologi apensitis perforasi dan menentukan sensitivitas antibiotic pada anak dengan apendisitis perforasi di RumahSakit Umum Pusat Dr. Sardjito, Yogyakarta, Indonesia. Subjek penelitian adalah bakteri aerob hasil isolasi pus cavum peritoneum/intraperitoneal pasien apendisitis perforasi anak yang dioperasi di RSUP Dr. Sardjito Yogyakarta Januari 2005 -September 2009. Ditemukan bakteri aerob terbanyak pada pasien apendisitis perforasi anak adalah E.coli, kemudian P. aeruginosa, Kl. pneumonia, Streptococcus, dan P. mirabilis. Antibiotika paling sensitif; imipenem, fosfomisin, amikasin, dan netilmisin; diikuti sefalosporin generasi 4 dan 3, amoksisilin, ampisilin, trimetoprim/sulfametoksazol. Tidak ada perbedaan secara nyata J Med Sci, Volume 48, No. 1, 2016 January: 35-44 36 dalam hal resistensi dan sensitivitas antara sefalosporin generasi ke-4 dibandingkan dengan fosfomycin, netilmisin, atau imipenem (p> 0,05). Kesimpulannya, bakteri yang paling sering umum pada apendisitis perforasi anak di RSUP Dr. Sardito, Yogyakarta adalah E. coli. Terapi dengan antibiotic cephalosporin generasi ke-4 tepat untuk anak-anak dengan apendisitis perforasi.
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