Prevalence of Malnutrition in Hospitalized Patients: a Multicenter Cross-sectional Study.

BACKGROUND: Malnutrition is associated with many adverse clinical outcomes. The present study aimed to identify the prevalence of malnutrition in hospitalized patients in Korea, evaluate the association between malnutrition and clinical outcomes, and ascertain the risk factors of malnutrition. METHODS: A multicenter cross-sectional study was performed with 300 patients recruited from among the patients admitted in 25 hospitals on January 6, 2014. Nutritional status was assessed by using the Subjective Global Assessment (SGA). Demographic characteristics and underlying diseases were compared according to nutritional status. Logistic regression analysis was performed to identify the risk factors of malnutrition. Clinical outcomes such as rate of admission in intensive care units, length of hospital stay, and survival rate were evaluated. RESULTS: The prevalence of malnutrition in the hospitalized patients was 22.0%. Old age (≥ 70 years), admission for medical treatment or diagnostic work-up, and underlying pulmonary or oncological disease were associated with malnutrition. Old age and admission for medical treatment or diagnostic work-up were identified to be risk factors of malnutrition in the multivariate analysis. Patients with malnutrition had longer hospital stay (SGA A = 7.63 ± 6.03 days, B = 9.02 ± 9.96 days, and C = 12.18 ± 7.24 days, P = 0.018) and lower 90-day survival rate (SGA A = 97.9%, B = 90.7%, and C = 58.3%, P < 0.001). CONCLUSION: Malnutrition was common in hospitalized patients, and resulted in longer hospitalization and associated lower survival rate. The rate of malnutrition tended to be higher when the patient was older than 70 years old or hospitalized for medical treatment or diagnostic work-up compared to elective surgery.

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis.MethodsA 2-year-old boy with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination, which was followed by exome-sequencing analysis.ResultsIn the genetic test for SoS diagnosis, two novel mutations of NDS1, c.2465C>A (p.Ser822Tyr) and c.4347T>A (p.Cys1449*), were observed and verified by resequencing in the patient and his parents. In further whole-exome-sequencing analysis using the patient's blood DNA, which was followed by a comparison analysis with the results of our previously reported genome-wide association study (GWAS) of HSCR, three genes (ZNF827, FGD2, and KCNJ12) with significance for HSCR from our previous GWAS were overlapped among the genes showing variants in the exome sequencing.ConclusionThis is the first reported patient with SoS and HSCR. Further studies are required to determine whether there is a genetic relationship between SoS and HSCR.

Potential association between ITPKC genetic variations and Hirschsprung disease.

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.

RNA-Seq for Gene Expression Profiling of Human Necrotizing Enterocolitis: a Pilot Study.

Necrotizing enterocolitis (NEC) characterized by inflammatory intestinal necrosis is a major cause of mortality and morbidity in newborns. Deep RNA sequencing (RNA-Seq) has recently emerged as a powerful technology enabling better quantification of gene expression than microarrays with a lower background signal. A total of 10 transcriptomes from 5 pairs of NEC lesions and adjacent normal tissues obtained from preterm infants with NEC were analyzed. As a result, a total of 65 genes (57 down-regulated and 8 up-regulated) revealed significantly different expression levels in the NEC lesion compared to the adjacent normal region, based on a significance at fold change ≥ 1.5 and P ≤ 0.05. The most significant gene, DPF3 (P < 0.001), has recently been reported to have differential expressions in colon segments. Our gene ontology analysis between NEC lesion and adjacent normal tissues showed that down-regulated genes were included in nervous system development with the most significance (P = 9.3 × 10⁻7; P(corr) = 0.0003). In further pathway analysis using Pathway Express based on the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, genes involved in thyroid cancer and axon guidance were predicted to be associated with different expression (P(corr) = 0.008 and 0.020, respectively). Although further replications using a larger sample size and functional evaluations are needed, our results suggest that altered gene expression and the genes' involved functional pathways and categories may provide insight into NEC development and aid in future research.

Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease.

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 =  .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 <  .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.

Pediatric appendectomy: the outcome differences between pediatric surgeons and general surgeons.

PURPOSE: The aim of this study was to review our experience of pediatric appendectomy performed by either a general surgeon (GS) or a pediatric surgeon (PS) to determine any differences in outcomes. METHODS: We reviewed the medical records of pediatric appendicitis patients, 4 years before (GS group, 2007-2010) and after (PS group, 2011-2014) the introduction of a pediatric surgical practice. The records were reviewed for the following variables: operation time, length of hospital stay, complications, readmission in ≤30 days, type of operation, negative for appendicitis, drainage, open conversion, and reoperation in ≤30 days. RESULTS: Over 8 years, 400 patients were operated on for acute appendicitis, with the PS group comprising 61 % (N = 244) of patients. The operation time (55.1 vs 43.2 min, p = 0.0001) and postoperative length of hospital stay (3.5 vs 2.7 days, p = 0.001) were shorter, more patients were treated by laparoscopy (61.3 vs 91.2 %, p = 0.0001), and a fewer patients required peritoneal drainage (29.5 vs 63.2 %, p = 0.023) in the PS group than in the GS group. The negative appendectomy rate was slightly lower in the PS group, but not to a statistically significant degree. CONCLUSION: The patients in the PS group enjoyed a reduced operation time and length of hospital stay, greater likelihood of laparoscopic operation, and less peritoneal drainage than the patients in the GS group.

Postoperative complications influence prognosis and recurrence patterns in periampullary cancer.

BACKGROUND: The present study was performed to elucidate the influence of postoperative complications on the prognosis and recurrence patterns of periampullary cancer after pancreaticoduodenectomy (PD). METHODS: Clinical data were reviewed from 200 consecutive patients who had periampullary cancer and underwent PD between October 2003 and July 2010, and survival outcomes and recurrence patterns were analyzed. Postoperative complications were classified according to a modification of Clavien's classification. RESULTS: Overall, 86 major complications of grade II or higher occurred in 71 patients. The patients were classified into two groups according to the presence of postoperative complications of grade II or higher: group Cx-, absence of complications (n = 129); and group Cx+, presence of complications (n = 71). There were no differences in gender, mean age, tumor node metastasis stage, biliary drainage, type of resection, and radicality between the two groups (P > 0.05). The 3-year overall and disease-free survival rates of the group Cx+ patients (31.0 and 22.3 %, respectively) were significantly lower than those of the group Cx- patients (49.0 and 40.0 %; P = 0.003 and 0.002, respectively). The multivariate analysis showed that postoperative complications (P = 0.001; RR = 1.887; 95 % confidence interval [CI] 1.278-2.785), a T stage of T3 or T4 (P = 0.001; RR = 2.503; 95 % CI 1.441-4.346), positive node metastasis (P = 0.001; RR = 2.093; 95 % CI, 1.378-3.179), R1 or R2 resection (P = 0.023; RR = 1.863; 95 % CI 1.090-3.187), and angiolymphatic invasion (P = 0.013; RR = 1.676; 95 % CI 1.117-2.513) were independent prognostic factors for disease-free survival. Regarding recurrence patterns, group Cx+ patients exhibited more distant recurrences than did group Cx- patients (P = 0.025). CONCLUSIONS: Postoperative complications affect prognosis and recurrence patterns in patients with periampullary cancer after PD.

Preoperative cholangitis and metastatic lymph node have a negative impact on survival after resection of extrahepatic bile duct cancer.

BACKGROUND: The significance of the presence of preoperative inflammation for the prognosis of patients with extrahepatic bile duct cancer (BDCA) was evaluated. METHODS: The clinical data of 84 patients who underwent surgery for BDCA from August 2003 to May 2009 were reviewed, and survival analysis was performed. The patients were classified into two groups according to the presence of preoperative cholangitis: Group A had no cholangitis (n = 59), and group B had cholangitis (n = 25). RESULTS: There were no differences in sex, mean age, TNM stage, biliary drainage, type of resection, or radicality between the two groups (p > 0.05). The 3-year disease-specific survival (DSS) and disease-free survival (DFS) rates for the group B patients (21.5 and 11.9 %, respectively) were significantly lower than those for the group A patients (66.1 and 57.3 %, respectively; p = 0.013 and 0.001, respectively). The multivariate analysis showed that preoperative inflammation and lymph node metastasis were the independent prognostic factors for both overall survival (OS) [p = 0.021, relative risk (RR) = 2.224 and p = 0.015, RR = 2.367, respectively] and DFS (p = 0.014; RR = 2.192 and p = 0.013; RR = 2.240, respectively). The rates of angiolymphatic and perineural invasion were higher for group B than those for group A (p = 0.016 and 0.030, respectively). CONCLUSIONS: The presence of preoperative inflammation is an independent poor prognostic factor for OS and DFS for patients with BDCA.

The effect of Absolute Neutrophil Count (ANC) on early surgical site infection in Implanted Central Venous Catheter (ICVC).

PURPOSE: The aim of this study was to evaluate surgical site infection (SSI) rates related to implanted central venous catheters (ICVC) in pediatric hematology and oncology patients with respect to absolute neutrophil count (ANC) levels. PATIENTS AND METHODS: From January 2004 to December 2015, pediatric patients with ICVC insertion were investigated retrospectively. Patients were divided into four groups according to preoperative ANC levels and Granulocyte-colony stimulating factor (G-CSF) usage. Immediate and early surgical site infections were evaluated 7 and 30 days following surgery. RESULTS: In total, 1143 patients were enrolled. Patients were placed into 4 groups: 930 patients in group 1 with an ANC≥500/µL without G-CSF, 149 in group 2 with an ANC≥500/µL after G-CSF usage, 36 in group 3 with an ANC<500/µL without G-CSF, and 28 in group 4 with an ANC<500/µL even after G-CSF administration. Rates of immediate and early SSIs were not statistically different between groups. In the two-group analysis (group 1 and 2 vs. 3 and 4), the number of immediate and early SSIs were not also different, respectively. CONCLUSION: There was no correlation between ANC levels and immediate and early SSI occurrence after ICVC placement. LEVEL OF EVIDENCE: III.

Is neuromuscular blocker needed in children undergoing inguinal herniorrhaphy?: A prospective, randomized, and controlled trial.

BACKGROUND: Intraoperative neuromuscular blocker is widely used, but is known to be associated with postoperative residual paralysis, which is known to be associated with increased risk of pulmonary complications. Hence, its use should be individualized and restricted to procedures where it is mandatory. We examined whether not using a neuromuscular blocker affects the surgical conditions in children undergoing inguinal herniorrhaphy. METHODS: Anesthesia was induced and maintained with sevoflurane in 60% nitrous oxide, and the airway was maintained using an I-gel. In total, 66 children aged 1 to 6 years were randomized to receive rocuronium (rocuronium group, n = 33) or saline (control group, n = 33); 61 children of them finished the study. A single surgeon who performed the operation rated the surgical condition of each patient on a 4-point scale (1 = poor, 2 = acceptable, 3 = good, and 4 = excellent). Intraoperative patient movement, recovery time, emergence agitation, and postoperative pain scores were evaluated. RESULTS: One patient in control group and no patient in rocuronium group showed intraoperative movement. When noninferiority test was done for intraoperative patient movement, with the noninferiority margin of 20%, the difference of absolute risk was 3.3% (95% confidence interval -8.0% to 16.7%) and saline group was noninferior to rocuronium group. All of the patients showed good to excellent surgical conditions, and no difference was found between the 2 groups. The recovery time was shorter in the control group than in the rocuronium group (4.5 ±â€Š1.8 vs 5.6 ±â€Š2.2 minutes, respectively; P = .028). CONCLUSION: In children aged 1 to 6 years undergoing inguinal herniorhaphy under sevoflurane anesthesia using an I-gel, not using neuromuscular blocker showed similar intraoperative condition and shortened recovery time compared with using neuromouscular blocker.

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease.

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 âˆ¼ 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.

Reliability and validity of Korean version of modified: Yale preoperative anxiety scale.

PURPOSE: The modified Yale Preoperative Anxiety Scale (mYPAS) was developed for evaluating the level of preoperative anxiety in children. The purpose of this study was to develop a Korean version of the mYPAS (K-mYPAS) and to establish its validity and reliability based on the Korean preoperative pediatric patients. METHODS: K-mYPAS was made through stringent back-translation procedure. Total enrolled 102 patients answered questionnaires of Korean version of State-Trait Anxiety Inventory for Children (K-STAIC), and were videotaped for 2 to 5 minutes before induction of anesthesia. Three observers of experienced psychiatrist, surgeon, and nurse analyzed videotape with K-mYPAS comparing to K-STAIC. The inter- and intraobservers reliability, concurrent and construct validity, sensitivity, specificity, and predictive value were analyzed. RESULTS: The value of Cronbach α for interobservers reliability was 0.939 and intraobserver reliability was statistically significant (P < 0.001). Concurrent and construct validity were also statistically significant (P < 0.001 and P < 0.001, respectively). Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 81.3%, 91.4%, 81.3%, 91.4%, and 88.2%, respectively. CONCLUSION: The K-mYPAS had good psychometric properties and can be used as a reliable and valid instrument for the assessment of preoperative anxiety in children.

Drain insertion after appendectomy in children with perforated appendicitis based on a single-center experience.

PURPOSE: Management of appendicitis in children has always been an issue in pediatric surgery. Both diagnostic methods and treatment vary significantly among medical centers, and little consensus exists in many aspects of the care for patients with appendicitis. Here, we assessed the value of drain insertion after appendectomy in children. METHODS: This study is a retrospective review of pediatric patients who underwent appendectomy for perforated appendicitis at a tertiary medical center between 2003 and 2012. Patients who had a peritoneal drain inserted after appendectomy were compared with patients without drains regarding preoperative features and postoperative outcomes. Statistical analyses included a 2-tailed Student t-test and a chi-square or Fisher exact test. RESULTS: In total, 958 patients were reviewed. Of 342 patients with perforated appendicitis, 108 (31.6%) had Jackson-Pratt (JP) drains inserted. The JP group had a longer hospital stay compared with the non-JP group (6.38 ± 3.59 days vs. 3.87 ± 2.38 days, P < 0.001). The JP group also had higher complication rates (22.2% vs. 6.8%, P = 0.003), including the formation of intra-abdominal abscesses. CONCLUSION: According to our results, there seems to be little evidence to support peritoneal drain insertion after appendectomy, even in perforated appendicitis cases.

Diagnostic Accuracy of Meckel Scan with Initial Hemoglobin Level to Detect Symptomatic Meckel Diverticulum.

INTRODUCTION: Meckel scan is an effective tool for diagnosing symptomatic Meckel diverticulum (MD). However, the clinical relevance of Meckel scan remains controversial because of its rare use. To evaluate the clinical relevance of Meckel scan with initial hemoglobin (Hb) level, we investigated its diagnostic accuracy in our patient population over a 10-year period, and we propose clinical considerations for Meckel scan with initial Hb levels. PATIENTS AND METHODS: A total of 70 patients (41 males and 29 females; median age, 3 years; range, 3 months to 49 years) who underwent Meckel scans for symptomatic MD evaluation from October 2003 to August 2012 were reviewed retrospectively. Of the 70 patients, 13 were pathologically confirmed by surgery. Nine patients had MD, and the others were diagnosed with gastritis, colitis, and juvenile polyps. Overall, 57 patients were evaluated with endoscopy and clinical examinations, and were followed up for 3 to 6 years. The patients were classified into two groups by their initial Hb levels. Group I consisted of anemic patients whose initial Hb levels were less than the reference range for each individual's age and sex (n = 16), and group II consisted of patients within the normal range for Hb level (n = 52). The two groups were compared using Fisher exact test. RESULTS: Of the 70 patients, 9 (12.3%) showed positive findings on Meckel scan, and the others demonstrated negative findings. In the negative scan group, 1 patient was confirmed as MD after surgery; 60 patients showed spontaneous improvement and no symptom recurrence was detected during the 3- to 6-year follow-up. In the positive Meckel scan group, eight patients were pathologically diagnosed with MD. One patient was reported as having a juvenile polyp with no evidence of ectopic gastric mucosa. The sensitivity and specificity of Meckel scan were 89 and 98%, respectively. In group I, Meckel scan was positive in seven patients (44%) and showed a significantly higher prevalence than in group II (p < 0.001). When limited to the patients with gastrointestinal bleeding and anemia, the positive predictive value and negative predictive value were 100 and 100%, respectively. CONCLUSION: In this study, Meckel scan showed high diagnostic accuracy in detecting symptomatic MD. Meckel scan also showed the highest positive results when applied in patients with gastrointestinal bleeding who were in anemic conditions.

Gene expression profile of necrotizing enterocolitis model in neonatal mice.

BACKGROUND: Necrotizing enterocolitis (NEC) characterized by intestinal necrosis is one of the most common gastrointestinal emergencies in newborns. The main purpose of this study was to evaluate the whole genome expression levels in a NEC mouse model controlled with breast milk. METHODS: This study induced a NEC model in mice of gestational ages of 18-21 days by intensive hypoxic insult and permitted breast-feeding instead of formula feeding. After evaluating the NEC status in the small intestines of neonatal mice by histological examination, a genome-wide gene expression profile study was completed using microarray analysis. RESULTS: A total of 72 genes (38 down-regulated and 34 up-regulated) were observed to have significantly different expression profiles in the NEC mouse model compared with the normal control animals, based on a significance at fold change ≥ 2 and P < 0.05. In particular, down-regulated Hist1h2aa and up-regulated Ube2i showed the most significant signals (P = 0.0008 for both genes). In an additional gene ontology analysis, the endopeptidase related categories (specifically, serine-type endopeptidase inhibitor activity, P = 8.95 × 10(-5); Pcorr = 0.008) appeared to affect NEC development in the mouse model. CONCLUSION: Although replications and functional evaluations are needed, our results suggest that several genes may have different expression profiles in the NEC mouse model. In particular, endopeptidase related genes (which are also known to be relevant to NEC), as identified through gene ontology analysis, may represent attractive targets for future research.

Potential Association of INMT Nonsynonymous Variant (His46Pro) with Hirschsprung's Disease.

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.

Laparoscopic treatment of hepatic cysts located in the posterosuperior segments of the liver.

PURPOSE: Laparoscopy is considered the treatment of choice for hepatic cysts, especially those located in anterolateral segments (AL; segments II, III, IVb, V, and VI) because of the ease of laparoscopic access. Here, we evaluated the feasibility and safety of laparoscopic treatment of hepatic cysts in posterosuperior segments (PS; segments I, IVa, VII, and VIII). METHODS: We retrospectively analyzed clinical data for 34 patients who underwent laparoscopic treatment of hepatic cysts between September 2004 and December 2012. Patients were divided into two groups depending on whether the main largest cyst was located in AL (n = 20) or PS (n = 14). Laparoscopic cyst unroofing was performed in 29 patients with symptomatic simple cysts. Laparoscopic resection was performed in 5 patients with suspected cystic neoplasms. RESULTS: There were no deaths or major complications. The mean operation time was 110 minutes and the mean hospital stay was 4.4 days. The mean cyst size was not significantly different (P = 0.511) but the frequency of multiple cysts was significantly greater in group PS (P = 0.003). The predominant type of resection was unroofing in both groups (P = 0.251). The mean blood loss (P = 0.747), mean hospital stay (P = 0.812), mean operation time (P = 0.669), morbidity rate (P = 0.488), and relapse rate (P = 0.448) were not significantly different. Relapse occurred in one patient who underwent reunroofing 17 months later. The median follow-up is 62 months. CONCLUSION: Laparoscopy is a safe procedure for hepatic cysts located in posterosuperior segments.

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

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 (rawP = 5.69×10(-19) before a Bonferroni correction; corrP = 4.31×10(-13) after a Bonferroni correction) and NRG1 as susceptibility loci. In addition, this study identified SLC6A20 (adjP = 2.71×10(-6)), RORA (adjP = 1.26×10(-5)), and ABCC9 (adjP = 1.86×10(-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, corrP = 1.71×10(-5)), long-segment (L-HSCR, corrP = 6.66×10(-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.

(99m)Tc-Labeled RBC Scan in a Patient with Blue Rubber Bleb Nevus Syndrome: A Case Report.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by cutaneous and gastrointestinal vascular malformations. We report here the case of a 13-year-old patient with BRBNS who was suffering from chronic anemia. His chief complaint was melena. Contrast-enhanced abdominal computed tomography showed multiple hemangiomas in the small bowel. (99m)Tc-labeled red blood cell (RBC) scan identified the bleeding sites in the small bowel. The patient underwent exploratory laparotomy with segmental resection and multiple wedge resection of the small bowel. The pathological results confirmed the multiple cavernous hemangiomas. This case confirms the critical role of the (99m)Tc-labeled RBC scan in localizing the bleeding sites in patients with BRBNS.

Thoracoscopic management of a communicating bronchopulmonary foregut malformation in a 23-month-old child.

A communicating bronchopulmonary foregut malformation is a rare anomaly characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. We describe the thoracoscopic management of a communicating bronchopulmonary foregut malformation in a 23-month-old boy by division of an anomalous bronchus and right upper lobectomy.