ABSTRACT
PURPOSE: Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove. METHODS: We performed a retrospective review of 26 pediatric patients who were diagnosed with perineal groove between January 2012 and October 2018 at our institution. RESULTS: Perineal groove was extremely prevalent among the females: 25 of the 26 patients were girls, and only one patient was a boy. All the patients presented with an unusual lesion at the anus or perineum, but no symptoms related to this anomaly. The median age at the first visit to our clinic was 1.5â¯month (range, 0.3-11.4â¯month). Two types, complete and partial, were used to categorize the appearance of perineal groove. In a sample group, 55% (12/22) of the patients had complete perineal groove while 45% (10/22) had partial perineal groove. One patient underwent an anoplasty at another hospital following the diagnosis of an imperforate anus. One male and 13 female patients were followed beyond the age of two, and 10 patients (71%) showed a natural healing process. CONCLUSION: Perineal groove manifested as two types of appearance and showed excellent results with conservative treatment in our study. A natural healing process can be expected in the long-term follow-up. Perineal groove must be differentiated from other defects to avoid unnecessary surgical treatment. LEVELS OF EVIDENCE: Therapeutic Study, Level IV.
Subject(s)
Congenital Abnormalities/therapy , Conservative Treatment , Perineum/abnormalities , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Retrospective StudiesABSTRACT
Hirschsprung disease (HSCR) is a congenital rare disorder and a kind of developmental neuropathies, characterized by the lack of enteric neurons in variable segments of distal bowel. Our recent genome-wide association study identified a variant (rs13223150) of testis-specific A13 (TSGA13) as a potential risk locus for total colonic aganglionosis (TCA) in HSCR. The aim of this study was to identify the impact of the variant (rs13223150) and potential association of genetic variations of TSGA13 with TCA in HSCR. This study performed a fine mapping and extended analyses in Korean population. A total of 9 single nucleotide polymorphisms (SNPs) of TSGA13 were genotyped in a larger HSCR cohort (187 HSCR patients and 283 unaffected controls), and extended genetic analyses using various genetic modelling, haplotype, and combined analyses were performed. The rs13223150_A allele showed a significant association with TCA (Pâ¯=â¯0.003), even after correcting for multiple testing (Pcorrâ¯=â¯0.02). One haplotype (BL1_ht1, G-A-C-C) including rs13223150 also showed a significant association with TCA (Pâ¯=â¯0.002, Pcorrâ¯=â¯0.01). Further combined imputation analysis indicated that several single nucleotide polymorphisms of TSGA13 were significantly associated with TCA in HSCR. Although replications in other population cohorts and functional evaluations are needed, our results suggest that TSGA13 genetic variants may affect TCA in HSCR and/or the extent of aganglionosis during enteric nervous system development.
Subject(s)
Hirschsprung Disease/genetics , Polymorphism, Single Nucleotide , Proteins/genetics , Case-Control Studies , Female , Genetic Association Studies , Genetic Predisposition to Disease , Haplotypes , Humans , Models, Genetic , Republic of KoreaABSTRACT
BACKGROUND/PURPOSE: Hirschsprung disease (HSCR) is a developmental disease characterized by the absence of ganglion cells in the intestinal region. NADPH oxidase5 (NOX5) has been identified as one of the possible candidate genes for risk of Hirschsprung disease in our recent genome wide association study (GWAS). In this study, we performed a replication study to analyze the association of NOX5 polymorphisms with HSCR risk and conducted an extended analysis to investigate further associations for sub-groups and haplotypes. METHODS: A total of 23 NOX5 single nucleotide polymorphisms (SNPs) were genotyped in 187 HSCR patients and 283 unaffected controls. Statistical analysis was performed to examine the effects of genotype on risk of HSCR and HSCR subtype. RESULTS: Logistic regression analyses revealed that six SNPs (rs59355559, rs62010828, rs34990910, rs11856030, rs311905, and rs8024894) were associated with risk of HSCR (minimum pâ¯=â¯0.007 at rs62010828). Moreover, three SNPs (rs59355559, rs62010828, and rs8024894) were significantly associated with risk of long-segment HSCR (L-HSCR) subtype and 5 SNPs (rs59355559, rs62010828, rs34990910, rs11856030, and rs8024894) were found to be associated with risk of TCA subtype. CONCLUSION: Our results demonstrate that genetic variants in NOX5 have genetic effects on risk of HSCR, which may serve as useful preliminary information for further study. LEVELS OF EVIDENCE: Level III of prognosis study.
Subject(s)
Hirschsprung Disease/genetics , NADPH Oxidase 5/genetics , Polymorphism, Single Nucleotide/genetics , Genetic Association Studies , HumansABSTRACT
PURPOSE: This study aimed to evaluate the usefulness of laparoscopic repair of inguinal hernia (LR) in infants in comparison with open hernia repair (OR). METHODS: We retrospectively analyzed the clinical data of 465 infants treated for inguinal hernia from January 2006 to December 2015. Among them, 124 underwent LR and 341 underwent OR. RESULTS: In the OR group, 16.1% (55/341) primarily underwent bilateral inguinal hernia repair and 13.6% (42/308) subsequently developed metachronous contralateral inguinal hernia during follow-up. In the LR group, 75.8% (94/124) underwent primary bilateral inguinal hernia repair and only 1.6% (2/123) developed metachronous contralateral inguinal hernia. The mean operation times of unilateral inguinal hernia repair showed no statistical differences between LR and OR. However, the mean operation times of bilateral inguinal hernia repair were shorter in LR (39.8±10.4 vs. 51.1±14.4min, p<0.001). Postoperative recurrence and wound infection showed no statistical differences between the groups, but postoperative scrotal swelling was more common in OR (0.0% vs. 4.0%, p=0.006). CONCLUSION: LR in infants showed a lower incidence of metachronous hernia, shorter operation times, and better postoperative course than OR. LR could be considered the primary operation method in infants with inguinal hernia. LEVELS OF EVIDENCE: Prognosis Study, Retrospective Study, Level III.
Subject(s)
Hernia, Inguinal/surgery , Herniorrhaphy , Laparoscopy , Herniorrhaphy/adverse effects , Herniorrhaphy/methods , Herniorrhaphy/statistics & numerical data , Humans , Infant , Laparoscopy/adverse effects , Laparoscopy/methods , Laparoscopy/statistics & numerical data , Operative Time , Postoperative Complications , Retrospective StudiesABSTRACT
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kinase C (ITPKC). For fine mapping, we additionally selected and genotyped a total of 12 single nucleotide polymorphisms (SNPs) of ITPKC in 187 HSCR patients and 283 unaffected controls, and performed a further combined imputation analysis based on genotype data from this second stage of fine mapping and our previous GWAS stage, totaling 902 subjects (187 HSCR cases and 715 controls). As a result, several SNPs (minimum P = 0.004) and a haplotype (P = 0.02) were found to be significantly associated with HSCR. In further in silico analyses to ascertain the potential functions of the significant variants, the change from the common allele to the rare allele of the highly conserved nonsynonymous rs76785336 showed a difference in mRNA folding structure. In the case of intronic SNPs, rs2607420 with a high consensus value was predicted to be a new splice site. Although this study has limitations (such as lack of functional evaluations, small number of cases, and further need of replication in other cohorts), our findings suggest that genetic variants of ITPKC may have a potential association with HSCR susceptibility and/or developmental diseases related to enteric nervous system development.
Subject(s)
Genetic Predisposition to Disease , Hirschsprung Disease/metabolism , Phosphotransferases (Alcohol Group Acceptor)/genetics , Polymorphism, Single Nucleotide , Amino Acid Sequence , Case-Control Studies , Female , Genetic Association Studies , Haplotypes , Hirschsprung Disease/genetics , Humans , Male , Phosphotransferases (Alcohol Group Acceptor)/chemistry , Sequence AlignmentABSTRACT
Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower gastrointestinal tract. So far, three common disease-susceptibility variants at the RET, SEMA3 and NRG1 loci have been detected through genome-wide association studies (GWAS) in Europeans and Asians to understand its genetic etiologies. Here we present a trans-ethnic meta-analysis of 507 HSCR cases and 1191 controls, combining all published GWAS results on HSCR to fine-map these loci and narrow down the putatively causal variants to 99% credible sets. We also demonstrate that the effects of RET and NRG1 are universal across European and Asian ancestries. In contrast, we detected a European-specific association of a low-frequency variant, rs80227144, in SEMA3 [odds ratio (OR) = 5.2, P = 4.7 × 10-10]. Conditional analyses on the lead SNPs revealed a secondary association signal, corresponding to an Asian-specific, low-frequency missense variant encoding RET p.Asp489Asn (rs9282834, conditional OR = 20.3, conditional P = 4.1 × 10-14). When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1.1 to 26.7. Overall, our study provides further insights into the genetic architecture of HSCR and has profound implications for future study designs.
Subject(s)
Genetic Predisposition to Disease , Hirschsprung Disease/genetics , Neuregulin-1/genetics , Proto-Oncogene Proteins c-ret/genetics , Semaphorin-3A/genetics , Alleles , Asian People/genetics , Ethnicity/genetics , Female , Genome-Wide Association Study , Genotype , Hirschsprung Disease/pathology , Humans , Introns/genetics , Male , Polymorphism, Single Nucleotide , White People/geneticsABSTRACT
Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. Although the RET proto-oncogene is considered to be the main risk factor for HSCR, only about 30% of the HSCR cases can be explained by variations in previously known genes including RET. Recently, copy number variation (CNV) and loss of heterozygosity (LOH) have emerged as new ways to understand human genomic variation. The goal of this present study is to identify new HSCR genetic factors related to CNV in Korean patients. In the genome-wide genotyping, using Illumina's HumanOmni1-Quad BeadChip (1,140,419 markers), of 123 HSCR patients and 432 unaffected subjects (total n = 555), a total of 8,188 CNVs (1 kb â¼ 1 mb) were identified by CNVpartition. As a result, 16 CNV regions and 13 LOH regions were identified as associated with HSCR (minimum P = 0.0005). Two top CNV regions (deletions at chr6:32675155-32680480 and chr22:20733495-21607293) were successfully validated by additional real-time quantitative polymerase chain reaction analysis. In addition, 2 CNV regions (6p21.32 and 22q11.21) and 2 LOH regions (3p22.2 and 14q23.3) were discovered to be unique to the HSCR patients group. Regarding the large-scale chromosomal aberrations (>1 mb), 11 large aberrations in the HSCR patients group were identified, which suggests that they may be a risk factor for HSCR. Although further replication in a larger cohort is needed, our findings may contribute to the understanding of the etiology of HSCR.
Subject(s)
Chromosome Aberrations , Genome-Wide Association Study , Hirschsprung Disease/genetics , Asian People/genetics , Child , Child, Preschool , DNA Copy Number Variations/genetics , Female , Humans , Loss of Heterozygosity/genetics , Male , Proto-Oncogene Mas , Real-Time Polymerase Chain Reaction , Reproducibility of Results , Young AdultABSTRACT
PURPOSE: Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder, which is caused by no neuronal ganglion cells in part or all of distal gastrointestinal tract. Recently, our genome-wide association study has identified solute carrier family 6, proline IMINO transporter, member 20 (SLC6A20) as one of the potential risk factors for HSCR development. This study performed a replication study for the association of SLC6A20 polymorphisms with HSCR and an extended analysis to investigate further associations for subgroups and haplotypes. METHODS: For the replication study, a total of 40 single nucleotide polymorphisms (SNPs) of SLC6A20 were genotyped in 187 HSCR subjects composed of 121 short-segment HSCR, 45 long-segment HSCR (L-HSCR), 21 total colonic aganglionosis, and 283 unaffected controls. Imputation was performed using genotype data from our genome-wide association study and this replication study. RESULTS: Imputed meta-analysis revealed that 13 SLC6A20 SNPs (minimum P = 0.0002 at rs6770261) were significantly associated with HSCR even after correction for multiple comparisons using false discovery rate (FDR) (minimum PFDR =â .005). In further subgroup analysis, SLC6A20 polymorphisms appeared to have increased associations with L-HSCR. Moreover, haplotype analysis also showed significant associations between 2 haplotypes (BL3_ht2 and BL4_ht2) and HSCR susceptibility (PFDR <â .05). CONCLUSIONS: Although further replications and functional evaluations are required, our results suggest that SLC6A20 may have roles in HSCR development and in the extent of aganglionic segment during enteric nervous system development.
Subject(s)
DNA Replication , Hirschsprung Disease/genetics , Membrane Transport Proteins/genetics , Polymorphism, Single Nucleotide , Case-Control Studies , Female , Genetic Predisposition to Disease , Genome-Wide Association Study , Genotype , Haplotypes , Humans , MaleABSTRACT
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder which is characterized by the lack of ganglion cells in part of or the entire colon, resulting in intestinal obstruction and other related symptoms. Recently, our group has conducted a genome-wide association study in Korean HSCR cases and controls to identify novel markers in other genes. OBJECTIVES: The present research aimed to further study the potential association of INMT with HSCR by conducting a replication study. METHODS: A total of 15 INMT single nucleotide polymorphisms (SNPs) were analyzed for the association with HSCR in 187 HSCR patients and 283 controls. Analyses were also conducted for subtypes of HSCR (short-segment, long-segment, and total colonic aganglionosis). RESULTS: A nonsynonymous SNP rs77743549 (His46Pro) was significantly associated with the increased risk of HSCR (odds ratio = 1.77; corrected p = 0.002). Furthermore, this rs77743549 retained its association with all subtypes of HSCR (p = 0.006-0.002 under the codominant model). A global test showed that rs77743549 was associated with the length of aganglionosis (p = 0.00004). CONCLUSION: Although further replications and functional evaluations are needed, our study suggests that rs77743549 of INMT may be associated with the risk for HSCR and/or the development of the enteric nervous system.
Subject(s)
Hirschsprung Disease/genetics , Methyltransferases/genetics , Polymorphism, Single Nucleotide/genetics , Biomarkers , Case-Control Studies , Female , Genome-Wide Association Study , Genotype , Humans , Infant, Newborn , Male , Republic of KoreaABSTRACT
This study investigated the extent of the raised intracranial pressure resulting from carbon dioxide (CO2) pneumoperitoneum by ultrasonographically measuring optic nerve sheath diameter (ONSD) in children undergoing laparoscopic surgery. Twenty-five children aged less than 9 y (53.1 ± 23.3 mo, mean ± standard deviation) and scheduled for an elective laparoscopic surgery participated. ONSD was assessed using ocular ultrasonography 10 min after induction of anesthesia (T0), 10 min after induction of CO2 pneumoperitoneum at 10 mm Hg intra-abdominal pressure (T1) and in an anesthetized state without CO2 pneumoperitoneum at the conclusion of the surgery (T2). During CO2 pneumoperitoneum, ONSD increased significantly compared with ONSD after anesthesia induction (T0: 4.3 ± 0.3 mm, T1: 4.6 ± 0.3 mm, p < 0.05). In all enrolled patients, any neurologic complications were not observed during the intra-operative or post-operative period. In children undergoing laparoscopic surgery, an increase in ONSD was ascertained during CO2 pneumoperitoneum, and thus the corresponding increase in intracranial pressure could be predicted.
Subject(s)
Intracranial Hypertension/diagnostic imaging , Laparoscopy/methods , Monitoring, Intraoperative/methods , Optic Nerve/diagnostic imaging , Ultrasonography, Doppler, Transcranial/methods , Child , Child, Preschool , Female , Humans , Image Interpretation, Computer-Assisted/methods , Infant , Infant, Newborn , Male , Reproducibility of Results , Sensitivity and Specificity , Surgery, Computer-Assisted/methodsABSTRACT
Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of intramural nervous plexuses along variable lengths of the hindgut. Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. To discover additional risk loci, we performed a GWAS of 123 sporadic HSCR patients and 432 unaffected controls using a large-scale platform with coverage of over 1 million polymorphic markers. The result was that our study replicated the findings of RET-CSGALNACT2-RASGEF1A genomic region (rawPâ=â5.69×10(-19) before a Bonferroni correction; corrPâ=â4.31×10(-13) after a Bonferroni correction) and NRG1 as susceptibility loci. In addition, this study identified SLC6A20 (adjPâ=â2.71×10(-6)), RORA (adjPâ=â1.26×10(-5)), and ABCC9 (adjPâ=â1.86×10(-5)) as new potential susceptibility loci under adjusting the already known loci on the RET-CSGALNACT2-RASGEF1A and NRG1 regions, although none of the SNPs in these genes passed the Bonferroni correction. In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrPâ=â1.71×10(-5)), long-segment (L-HSCR, corrPâ=â6.66×10(-4)), and total colonic aganglionosis (TCA, corrP>0.05). This differential pattern in the significance level suggests that other genomic loci or mechanisms may affect the length of aganglionosis in HSCR subgroups during enteric nervous system (ENS) development. Although functional evaluations are needed, our findings might facilitate improved understanding of the mechanisms of HSCR pathogenesis.
Subject(s)
Genetic Loci , Genetic Predisposition to Disease , Genome-Wide Association Study , Hirschsprung Disease/genetics , Chromosomes, Human/genetics , Female , Humans , Linkage Disequilibrium/genetics , Male , Polymorphism, Single Nucleotide/geneticsABSTRACT
PURPOSE: Choledochal cyst is a cystic dilatation of common bile duct. Although the etiology is presently uncertain, anomalous pancreaticobiliary ductal union (APBDU) is thought to be a major etiology of choledochal cyst. In this study, we analyzed the clinical and anatomical characteristics and pathologies of patients diagnosed with choledochal cyst in a single institute for 25 years. METHODS: A total of 113 patients, diagnosed with choledochal cyst and who received an operation in Severance Children's Hospital from January 1988 to May 2013, were included. Medical records were reviewed, including clinical and demographic data, surgical procedures. Abdominal ultrasonography, magnetic resonance cholangiopancreatography, and intraoperative cholangiography were used as diagnostic tools for evaluation and classification of choledochal cyst and the presence of anomalous pancreaticobiliary ductal union. Todani's classification, and relationship between APBDU and surgical pathology. RESULTS: Among 113 patients, 77 patients (68.1%) presented symptoms such as hepatitis, pancreatitis and/or cholecystitis. Eighty three patients (73.5%) had APBDU, and 94 patients (83.2%) showed inflammatory pathologic changes. APBDU, pathologic inflammation, and serological abnormalities such as hepatitis or pancreatitis showed a statistically significant correlation to one another. CONCLUSION: APBDU is thought to be one of the etiologic factors of choledochal cyst. It is related to the inflammatory changes in bile duct that can lead to the cystic dilatation.
ABSTRACT
BACKGROUND: An intracuff pressure of 80 cm H2 O in the adult-sized laryngeal mask airway Supreme has been recommended to obtain a higher oropharyngeal leak pressure (OLP). However, the intracuff pressure for the higher OLP in the pediatric laryngeal mask airway Supreme could be different from that in the adult-sized laryngeal mask airway Supreme. Thus, we measured and compared OLP at three intracuff pressures of 40, 60, and 80 cm H2 O in the pediatric laryngeal mask airway Supreme. METHODS: This study was designed as a randomized crossover study and enrolled 36 children, aged 0-108 months and 5-30 kg in weight. After insertion of the laryngeal mask airway Supreme, oropharyngeal leak pressure (OLP) was measured at intracuff pressures of 40, 60, and 80 cm H2 O according to one of six sequences produced on the basis of 3 × 6 Williams crossover design. During the intraoperative period, the laryngeal mask airway Supreme was maintained using the last intracuff pressure of the allocated sequence. The intraoperative and postoperative complications were compared among three maintenance intracuff pressures. RESULTS: OLP at the intracuff pressure of 60 cm H2 O was significantly higher than that of 40 cm H2 O (17.9 ± 3.9 vs 16.9 ± 4.2 cm H2 O, P = 0.004) and was comparable with that of 80 cm H2 O (17.9 ± 3.9 vs 17.8 ± 4.6 cm H2 O, P = 0.938). There were no significant differences of intraoperative and postoperative complications among the three maintenance intracuff pressures. CONCLUSION: Our results suggest that the use of an intracuff pressure of 60 cm H2 O in pediatric laryngeal mask airway Supreme provides a higher OLP compared with 40 cm H2 O.
Subject(s)
Laryngeal Masks , Air Pressure , Airway Obstruction/epidemiology , Airway Obstruction/etiology , Anesthesia, Inhalation , Anesthetics, Inhalation , Child , Child, Preschool , Cross-Over Studies , Female , Humans , Infant , Infant, Newborn , Male , Methyl Ethers , SevofluraneABSTRACT
PURPOSE: The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung's disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung's disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN. MATERIALS AND METHODS: A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility. RESULTS: Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung's disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9±1.0 months, and the abdominal radiographs normalized. CONCLUSION: BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung's disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.
Subject(s)
Ileus/diagnosis , Female , Hirschsprung Disease/diagnosis , Hirschsprung Disease/pathology , Humans , Ileus/pathology , Infant, Newborn , Male , Rectum/pathology , Retrospective StudiesABSTRACT
PURPOSE: This study evaluated the feasibility of a laparoscopic approach in children with generalized peritonitis secondary to perforated appendicitis. MATERIALS AND METHODS: We retrospectively analyzed the medical records of patients who underwent laparoscopic appendectomy with drainage for generalized peritonitis secondary to perforated appendicitis at our hospital between September 2001 and April 2012. Laparoscopic outcomes were compared with outcomes of an open method for perforated appendicitis. RESULTS: Ninety-nine patients underwent laparoscopic appendectomy (LA) for generalized peritonitis from perforated appendicitis, and 87 patients underwent open appendectomy (OA) for perforated appendicitis. Wound infection was more common in the OA group (12.6%) than in the LA group (4.0%; p=0.032). The incidence of intestinal obstruction during long-term follow-up was significantly higher in the OA group (4.6% vs. 0.0% in the LA group; p=0.046). LA was possible in most patients for whom LA was attempted, with a conversion rate of 10.8%. Conversion to OA was affected by the preoperative duration of symptoms and the occurrence of intraoperative complications. CONCLUSION: LA is feasible for use in children with generalized peritonitis from perforated appendicitis, with reasonable open conversion and perioperative complication rates comparable to those of the OA group.
Subject(s)
Appendicitis/complications , Appendicitis/etiology , Appendicitis/surgery , Laparoscopy/methods , Child , Child, Preschool , Female , Humans , Male , Retrospective Studies , Treatment OutcomeABSTRACT
BACKGROUND/PURPOSE: Identifying ganglion cells by rectal suction biopsy is a basic diagnostic tool for the diagnosis of Hirschsprung's disease (HD). However, the difficult interpretation of conventionally processed slides often necessitates ancillary staining methods. The aim of this study was to evaluate the usefulness of calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of HD. METHODS: We analyzed 52 rectal suction biopsy specimens (37 from 15 HD patients and 15 from 7 non-HD patients) for ganglion cells with calretinin and MAP-2 immunohistochemistry. We also analyzed full-thickness, frozen biopsy samples obtained from 15 HD patients who underwent surgery utilizing calretinin and MAP-2 immunohistochemistry. RESULTS: Both calretinin and MAP-2 positively stained ganglion cells in the submucosal plexus of the ganglionic bowel but not aganglionic bowel. Calretinin usually stained ganglion cell cytoplasm and nuclei more intensely than MAP-2, which only stained cytoplasm. No nerve fiber staining in the submucosal layer was observed for either antibody. In 21.1% (11/52) of samples, calretinin and MAP-2 staining found ganglion cells which were reported not to have ganglion cells in the original surgical pathology reports. Immunohistochemical staining for calretinin using paraffin-embedded tissue sections after cryostat sections clearly demonstrated decreased staining intensity compared to MAP-2. CONCLUSION: Calretinin and MAP-2 are useful diagnostic markers for diagnosing HD in rectal suction biopsies. These complementary methods could ameliorate the diagnostic difficulties associated with HD.
Subject(s)
Calbindin 2/metabolism , Hirschsprung Disease/diagnosis , Microtubule-Associated Proteins/metabolism , Biomarkers/metabolism , Biopsy , Female , Hirschsprung Disease/metabolism , Hirschsprung Disease/pathology , Humans , Immunohistochemistry , Infant , Infant, Newborn , Male , Rectum/metabolism , Rectum/pathology , Retrospective StudiesABSTRACT
PURPOSE: The aim of the study was to determine clinical indications for performing minimally invasive surgery (MIS) with acceptable results by reviewing our experience in congenital diaphragmatic hernia (CDH) repair and comparing outcomes of MIS with open surgery. METHODS: Medical records of patients who underwent CDH repair were reviewed retrospectively between January 2008 and December 2012, and outcomes were compared between MIS and open repair of CDH. RESULTS: From 2008 to 2012, 35 patients were operated on for CDH. Among these patients, 20 patients underwent open surgery, and 15 patients underwent MIS. Patients with delayed presentations (60.0% [9/15] in the MIS group vs. 20.0% [4/20] in the open surgery group; P = 0.015) and small diaphragmatic defect less than 3 cm (80.0% [12/15] in the MIS group vs. 0.0% [0/20] in the open surgery group; P < 0.001) were more frequently in the MIS group than the open surgery group. All 10 patients who also had other anomalies underwent open surgery (P = 0.002). Moreover, nine patients who needed a patch for repair underwent open surgery (P = 0.003). Patients in the MIS group showed earlier enteral feeding and shorter hospital stays. There was no recurrence in either group. CONCLUSION: CDH repair with MIS can be suggested as the treatment of choice for patients with a small sized diaphragmatic defect, in neonates with stable hemodynamics and without additional anomalies, or in infants with delayed presen tation of CDH, resulting in excellent outcomes.
ABSTRACT
PURPOSE: This prospective, randomized trial was conducted to establish whether the pediatric laryngeal mask airway (LMA) could be used without any concerns for abnormally high intra-cuff pressure when a cuff of the LMA was inflated with half the maximum recommended inflation volume or the resting volume before insertion. BASIC PROCEDURES: Eighty children 0 to 9 years of age and weighing of 5 to 30 kg scheduled for general anesthesia were included. Before insertion, the cuff of the LMA was filled with half the maximum recommended inflation volume in the Half volume group, or the resting volume by opening the pilot balloon valve to atmospheric pressure in the Resting volume group. After insertion of the LMA, intra-cuff pressure, oropharyngeal leak pressure, and leakage volume were investigated. MAJOR FINDINGS: The Half volume group showed lower mean intra-cuff pressure than the Resting volume group (49.6 ± 12.1 cm H(2)O vs 58.1 ± 13.8 cm H(2)O, P = .005). There was no difference in oropharyngeal leak pressure (22.1 ± 5.8 vs 21.7 ± 5.1 cm H(2)O, P = .757) or leakage volume between the Half volume group and the Resting volume group (0.13 ± 0.13 ml/kg vs 0.11 ± 0.12 ml/kg, P = .494) under spontaneous respiration. CONCLUSIONS: Both methods of the LMA cuff inflation before insertion provided an acceptable range of intra-cuff pressure with adequate pharyngeal sealing without any intervention after insertion.
Subject(s)
Laryngeal Masks , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Manometry/instrumentation , Patient Safety , Pressure , Prospective StudiesABSTRACT
BACKGROUND/PURPOSE: This study compared long-term outcomes of left- vs right-sided antegrade continence enema (ACE) procedures. METHODS: We retrospectively analyzed medical records and performed a follow-up telephone survey of patients who underwent the ACE procedure at Severance Children's Hospital between 1999 and 2011. RESULTS: A total of 49 patients underwent 51 ACE procedures. The procedures were left-sided ACE in 25 patients (group 1) and right-sided in 26 patients (group 2), including 2 patients who underwent left-sided procedures a few years earlier. Fecal soiling was more common in group 1 than in group 2 (8/25 [32.0%] vs 1/26 [3.9%], respectively; P = .0109). Seven patients (28.0%) in group 1 had abdominal pain unrelieved by ACEs. Stomal reflux of fecal material was more frequent in group 1 than in group 2 (13/25 [52.0%] vs 0/26 [0%], respectively; P < .0001). Nonuse or infrequent use of ACE was more common in group 1 than in group 2 (11/25 [44.0%] vs 0/26 [0%], respectively; P < .0001). Patient satisfaction was higher in group 2 (P = .0015). CONCLUSIONS: In our experience using the sigmoid colon for left-sided ACE, right-sided ACE was superior to left-sided ACE in achieving fecal continence, resolving intractable constipation, and providing patient satisfaction.