SciCombinator

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Journal: Pediatric surgery international

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Administration of cadmium (Cd) after 60 h (H) incubation induces ventral body wall defect (VBWD) similar to the omphalocele phenotype in the chick embryo. In this model, the earliest histological changes have been observed in somites commencing at 4-h post-treatment (4H). The molecular mechanism by which Cd acts in this critical period of embryogenesis still remains unclear. Sonic hedgehog (SHH) signalling plays an important role in vertebrate development, including somitogenesis and thus ventral body wall formation. Patched (PTCH), a cell membrane receptor for SHH, is expressed in somites and Patched knockout mice display somite dysfunction. Another transmembrane receptor, Smoothened (SMO), is also expressed in somites and transduces the SHH signal regulated by PTCH. We designed this study to test the hypothesis that SHH signalling is downregulated during the critical period of early embryogenesis in the Cd-induced omphalocele chick model.

Concepts: Protein, Signal transduction, Embryo, Cell membrane, Cell signaling, Mesoderm, Sonic hedgehog, Somite

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PURPOSE: Trauma systems improve survival by directing severely injured patients to trauma centers. This study analyzes the impact of trauma systems on pediatric triage and injury mortality rates. METHODS: Population-based data were collected on injured children less than 15 years who were admitted to any hospital in New England from 1996 to 2006. Data from three trauma system states were compared to three non-trauma system states. The percentages of injured children, severely injured children, and brain-injured children admitted to trauma centers were determined as well as injury hospitalization and death rates. Time trend analysis examined the pace of change between the groups. RESULTS: A total of 58,583 injured children were hospitalized during the study period. Injury hospitalization rates were initially similar between the two groups (with and without trauma systems) and decreased over time in both. Rates decreased more rapidly in trauma system states compared to those without, (P = 0.003). Injury death rates decreased over time in both groups with no difference between the groups, (P = 0.20). A higher percentage of injured children were admitted to trauma centers in non-trauma system states throughout the study period, and this percentage increased in both groups of states. A higher percentage of severely injured children and brain-injured children were admitted to trauma centers in non-trauma system states and both percentages increased over time. The increase was more rapid in trauma system states for children with severe injuries (P < 0.001) and children with brain injuries (P < 0.001). DISCUSSION: Trauma systems decreased childhood injury hospitalization rates and increased the percentage of severely injured children and brain-injured children admitted to trauma centers. Mortality and overall triage rates were unaffected.

Concepts: Mortality rate, Hospital, Surgery, Injuries, Injury, Physical trauma, Trauma center, Personal injury

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Indications for laparoscopic inguinal hernia repair in infants and children remain controversial. The purpose of this study is to compare clinical features and outcome of laparoscopic inguinal hernia repair in infants with older children.

Concepts: Surgery, Inguinal hernia, Hernia, Outcome, Hernias

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Congenital diaphragmatic hernia (CDH) remains a challenging and life-threatening congenital anomaly. The aim was to evaluate whether treatment and survival has changed during the last decade.

Concepts: Developmental biology, Congenital disorder, Congenital disorders, Congenital diaphragmatic hernia

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PURPOSE: To clarify health-related quality of life (HRQOL) by self-evaluation after restorative proctocolectomy with ileal J-pouch anal anastomosis (IPAA) in children with ulcerative colitis, a questionnaire using the Pediatric Quality of Life Inventory™ 4.0 (PedsQL) was administered. METHODS: The PedsQL was administered to 13 consecutive children (mean age 14.5 years) who underwent IPAA between 2005 and 2010 in our hospital and age-matched healthy controls. The mean duration after IPAA was 2.5 years (range 0.08-6 years) at the time of this study. Healthy children completed the same questionnaire by retrospective imaging during the past 1 month by the PedsQL evaluation policy. RESULTS: Patients' total score and each functioning score after IPAA reached the same levels as those in healthy controls. Soiling, pouchitis occurrence, and bowel movements had no significant relationship to the PedsQL total score and each functioning score. CONCLUSIONS: Interference of physical activity, emotional status, and social life caused by refractory ulcerative colitis (UC) worsens patients' HRQOL. IPAA could resolve these problems in children with UC and result in an HRQOL comparable with that in healthy children.

Concepts: Evaluation, Digestive system, Ulcerative colitis, Colon, Dietary fiber, Fecal incontinence, Ileo-anal pouch, Pouchitis

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PURPOSE: The high morbidity of newborn infants with congenital diaphragmatic hernia (CDH) is attributed to pulmonary hypoplasia (PH), which is characterized by a failure of alveolar development. The nitrofen-induced CDH model has been widely used to investigate the pathogenesis of PH in CDH. It has previously been shown that the fibroblast growth factor receptor (FGFR) pathway, which is essential for a proper lung development, is disrupted during late gestation of nitrofen-induced CDH. Casitas B-lineage lymphoma (c-Cbl) proteins are known regulators of signal transduction through FGFRs, indicating their important role during alveolarization in developing lungs. Furthermore, it has been demonstrated that tyrosine phosphorylation of c-Cbl proteins has a pivotal role for their physiological function and activity during fetal lung development. We designed this study to test the hypothesis that pulmonary c-Cbl expression and tyrosine phosphorylation status are decreased in the nitrofen-induced CDH model. METHODS: Timed-pregnant rats received either 100 mg nitrofen or vehicle on gestation day 9 (D9). Fetuses were harvested on D18 and D21, and lungs were divided into two groups: control and hypoplastic lungs with CDH (CDH(+)) (n = 10 at each time-point, respectively). Pulmonary gene expression levels of c-Cbl were analyzed by quantitative real-time polymerase chain reaction. Western blotting combined with densitometry analysis was used for semi-quantification of protein levels of pulmonary c-Cbl and tyrosine phosphorylation status. Confocal-immunofluorescence staining was performed to evaluate c-Cbl protein expression and distribution. RESULTS: Relative mRNA expression levels of pulmonary c-Cbl were significantly decreased in CDH(+) on D18 and D21 compared to controls. Western blotting showed markedly decreased protein levels of pulmonary c-Cbl and tyrosine phosphorylation status in CDH(+) on D18 and D21. Confocal-immunofluorescence analysis confirmed decreased c-Cbl expression in CDH(+) on D18 and D21 mainly in the distal alveolar epithelium compared to controls. CONCLUSION: Decreased pulmonary c-Cbl gene and protein expression accompanied by a decreased tyrosine phosphorylation status during the late stages of fetal lung development may result in reduced c-Cbl activity, and thus interfere with the FGFR-mediated alveolarization in the nitrofen-induced CDH model.

Concepts: DNA, Gene expression, Molecular biology, Signal transduction, Fetus, Developmental biology, Hormone, Congenital diaphragmatic hernia

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A cutaneous ciliated cyst is a rare entity found predominantly in the lower extremities and perineal region of young females. Although initially described by Hess in 1890, the present day term, “cutaneous ciliated cyst,” was proposed by Farmer in 1978 and includes a wide array of cyst types. Despite their typical female predominance and location, many have described cutaneous ciliated cysts in males and atypical locations. In addition, Mullerian cysts in the posterior mediastinum and the retroperitoneum have been reported. To date, only 40 cases have been reported in the literature of a Mullerian-type, cutaneous ciliated cyst. Here, we report a case of 13-year-old female with one in the gluteal cleft, initially presenting as a pilonidal cyst. We also discuss the differential diagnosis of pediatric sacrococcygeal lesions and pathogenesis of a Mullerian-type, cutaneous ciliated cyst.

Concepts: Cyst, Dermoid cyst, Pilonidal cyst, Epidermal nevi, neoplasms, cysts

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INTRODUCTION: 0.05 % betamethasone valerate cream is generally used as an alternative to circumcision for the treatment of phimosis in boys. The aim of this study is to determine whether the half-strength formula (0.025 %) of betamethasone is as effective as 0.05 % betamethasone. METHOD: All boys with phimosis seen at our institution between 2010 and 2012, whose parents complained that their children had problems of micturition, i.e., crying and ballooning, and sought for some instructions or treatments, were instructed to apply betamethasone valerate cream. Two strengths, 0.05 and 0.025 %, were randomly applied to each patient twice a day for 2 months. The patients whose parents were not willing to the conservative treatment underwent circumcision. RESULTS: Of the 47 patients, 23 boys with an average age of 16.65 ± 4.052 months (range 11-24 months) were given 0.025 % betamethasone cream, whereas the remaining 24 boys in control group with an average age of 18.42 ± 5.030 months (range 10-24 months) were instructed to apply with 0.05 % betamethasone valerate cream. Using unpaired t test, the age in both groups were comparable (p = 0.1932). There was a decrease in phimosis grade by the end of the therapeutic course in both groups. Further analysis using Mann-Whitney test revealed that the phimosis grade in the half-strength group (0.025 % strength) was significantly lower to the phimosis grade in the control (0.05 % betamethasone) group (p = 0.0003). There was no diversion from steroid application to circumcision or any side effects in the both groups. CONCLUSIONS: 0.025 % betamethasone valerate cream produced a clinical improvement. However, the half-strength formula was not effective as the conventional formula of 0.05 % betamethasone valerate cream.

Concepts: The Age, Corticosteroid, Glucocorticoid, Penis, Phimosis, Betamethasone, Valerate

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The co-occurrence of Hirschsprung’s disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the presence of a “Janus” mutation in the RET proto-oncogene–a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. To date, four mutations in the exon 10 region of RET that are known to cause MEN2A have been implicated in this association: C620, C618, C611 and C609. We performed a systematic review of the published literature on this association to determine its incidence, the prevalence and phenotype of HSCR associated with the 4 RET mutations mentioned above.

Concepts: DNA, Cancer, Mutation, Natural selection, Evolution, Multiple endocrine neoplasia, RET proto-oncogene, Multiple endocrine neoplasia type 2

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Anorectal malformations (ARMs) without fistula occur in approximately 5 % of all cases of ARM. The high frequency of Trisomy 21 associated to this type of malformation has been previously described. A review of the literature revealed only one previous publication discussing ARM without fistula with or without Trisomy 21; all other publications focused their discussion in patients with Trisomy 21. We felt that ARM without fistula has very specific characteristics and therapeutic implications that deserved a special discussion, which prompted us to review our experience.

Concepts: Debate, Academic publishing, Congenital disorder, Publishing, Publication, Publications