Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.

[Chilaiditi syndrome - a case report]. / Zespól Chilaiditi ­ opis przypadku.

The abnormality being the result of a certain transposition of the large intestine winding in between diaphragm and the liver, owes it's name to a so called Chilaiditi symptom. This symptom is rarely recognized for at most 0,025-0,28% of the whole population statistics - wise. The Chilaiditi symptom can be examined without any serious (abdominal) pain indication, when conducting the gastrointestinal examination with the implication of the different disorders. When carrying out the diagnostic examination, it is strongly recommended to take notice of patients suffering from the pain in abdominal area, especially in case of the patients with the developed air - structure under the right side copula of the diaphragm. The transposition of the large instestine winding between the diaphragm and the liver, may lead to the blood structure disorders along the part of patient's spot - pressed intestine and be the cause of the other afflictions. The circumstance as such is thus called by the name of Chilaiditi syndrome. The respective recognition of this syndrome may prevent the patient from any unnecessary assignment for a diagnostic and (or) any other therapeutic procedures in place.It may as well minimize the overall diagnostic treatment time lapse - usually concentrated on the pain relief treatment in the aftermath. The patients without examined affliction, (ex.) due to the liver disorders and the awareness of the existence of this syndrome in general, can be an indicator for taking up a decision for when it comes to the liver biopsy. This due to the risk of any perforation of the digestive tract. A CASE REPORT: The report describes case of the 56-year-old male patient, directed onto the surgery department by cause of a quite significant epigastric pain in the right side of the abdomen, however without any of the peritoneal symptoms indicated. The x-ray examination of the chest has indicated presence of the air - structure under the diaphragm copula. Having stated that and without any other signals of the serious abdominal inflammation, this symptom gave trigger for the assumption of the gastrointestinal perforation. As a result, the tomography scan has revealed high curve placement of the diaphragm going along the patient's front lobe of the liver. In the result the Chilaiditi syndrome has been recognized by the patient, where the symptom based treatment has prescribed leading the same to the absolute healing results as an outcome. After leaving the surgery by the patient, it has been made use of the re-directory to the leading gastroenterology practice for any further control checks. In the aftermath of the several year long observation, none of the abdominal pains have been reported back. CONCLUSIONS: Presence of the air - structure under the diaphragm copula without any typical affliction in relation to digestive tract perforation might be the result of transposition of the large intestine winding between diaphragm and the liver - called the Chilaiditi syndrome.

Clinical and Ultrasonographic Features of Secondary Intussusception in Children.

OBJECTIVES: The aim of this study was to review the ultrasonographic features of secondary intussusception (SI) in children and assess the value of ultrasound in the diagnosis of pediatric SI. METHODS: The authors performed a retrospective analysis on the ultrasound findings of 1977 cases of primary intussusception (PI) and 37 cases of SI in children. The SI cases were diagnosed by ultrasonography and confirmed by laparotomy or histopathologic diagnosis. The clinical and ultrasonographic features were analyzed and compared between these two groups. RESULTS: The age, no flatus or defecation, position, diameter and length of intussusception, the presence of free intraperitoneal liquid, and intestinal dialation at the proximal end present, all contributed to the differentiation between PI and SI (all P < 0.05). Ultrasound was able to demonstrate the pathological lead point (PLP) shadows in all of the 37 SI cases, either in the cervical part or intussusceptum of the intussusception. Among the 37 SI patients, 21 cases (56.8 %) were accurately categorized with lesions, including intestinal polyps, cystic intestinal duplication, intestinal wall lymphoma, and a small part of Meckel's diverticulum. CONCLUSIONS: Ultrasound can be used as a feasible and effective method to discriminate PI from SI. Once the PLP is detected, a definite diagnosis can be made. KEY POINTS: • The clinical and ultrasonographic features were compared between SI and PI. • The age, location, diameter and length of intussusception, and intestinal dilation were distinguishing features. • The causes of SI were found to be polyps, intestinal duplication, lymphoma, and Meckel's diverticulum. • Ultrasound can be used as an important method to diagnose SI. • Demonstration and confirmation of PLP are vital to diagnosing SI.

Percutaneous embolization of persistent low-output enterocutaneous fistulas.

OBJECTIVES: To present and retrospectively evaluate the technique of percutaneous embolization of chronic enterocutaneous fistulas (ECFs) using n-butyl-2-cyanoacrylate and Lipiodol under fluoroscopic guidance. METHODS: Six patients with a total of seven post-operative low-output ECFs of the large intestine were treated. After fistulography a hydrophilic guide wire and a catheter were advanced through the ECF into the intestine. After dilation of the bowel with saline and contrast medium, the catheter was withdrawn into the enteric orifice and glue together with Lipiodol was injected while simultaneously pulling the catheter. RESULTS: Complete closure of all seven fistulas was achieved. There were no peri-procedural complications. In one patient 1 month following embolization a low-output enteric discharge was observed, but the ECF spontaneously healed 5 days later. In one patient 18 months after the embolization a new perforation due to diverticulitis close to the embolization site occurred and resection of the sigmoid colon was performed. One patient needed reoperation due to a recurrence of rectal carcinoma. CONCLUSIONS: In our series of patients, the presented technique of percutaneous embolization proved to be efficacious and easy to perform. It may have potential as a first-line treatment of low-output ECFs but a prospective study with a larger series of patients and a longer follow-up is required.

Disparities in the gut metabolome of post-operative Hirschsprung's disease patients.

Hirschsprung's disease (HD) is a congenital structural abnormality of the colon seen in approximately 1 to 5000 live births. Despite surgical correction shortly after presentation, up to 60% of patients will express long-term gastrointestinal complaints, including potentially life-threatening Hirschsprung-associated enterocolitis (HAEC). In this study fecal samples from postoperative HD patients (n = 38) and their healthy siblings (n = 21) were analysed using high-resolution liquid chromatography-mass spectrometry aiming to further unravel the nature of the chronic gastrointestinal disturbances. Furthermore, within the patient group, we compared the faecal metabolome between patients with and without a history of HAEC as well as those diagnosed with short or long aganglionic segment. Targeted analysis identified several individual metabolites characteristic for all HD patients as well as those with a history of HAEC and long segment HD. Moreover, multivariate models based on untargeted data established statistically significant (p < 0.05) differences in comprehensive faecal metabolome in the patients' cohort as a whole and in patients with a history of HAEC. Pathway analysis revealed the most impact on amino sugar, lysine, sialic acid, hyaluronan and heparan sulphate metabolism in HD, as well as impaired tyrosine metabolism in HAEC group. Those changes imply disruption of intestinal mucosal barrier due to glycosaminoglycan breakdown and dysbiosis as major metabolic changes in patients' group and should be further explored for potential diagnostic or treatment targets.

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

CONTEXT: Cytochrome P450 oxidoreductase (POR) is an electron donor for all microsomal P450 enzymes including CYP26 involved in inactivation of all-trans retinoic acid (atRA). Although previous studies in Por knockout mice suggest that atRA accumulation is relevant to various posterior organ abnormalities, a systematic analysis has not been performed for anorectal and urinary anomalies in patients with POR deficiency (PORD). OBJECTIVE: To report the frequencies of anorectal and urinary anomalies and plasma atRA values in PORD patients. PATIENTS: We studied 37 Japanese patients with PORD, consisting of 15 homozygotes for R457H (group A), 15 compound heterozygotes for R457H and one apparently null mutation (group B), and seven patients with other combinations of mutations (group C). Since R457H is a severe hypomorphic mutation, the residual POR function is predicted to be higher in group A than in group B. RESULTS: Imperforate anus was observed in four patients (10.8%) and vesicoureteral reflux was found in three patients (8.1%), with no significant difference in the frequencies of such anomalies between groups A and B. In addition, a complex urogenital malformation including penile agenesis was identified in one patient. Plasma atRA values were above the reference range in nine of 12 patients examined, and were similar between groups A and B and between patients with and without anomalies. CONCLUSIONS: The results imply that aberrant atRA metabolism due to CYP26 deficiency underlies various anorectal and urinary anomalies in patients with PORD. Clinical phenotypes may be primarily determined by maternal oral retinol intake during pregnancy, and plasma atRA values may be largely influenced by the amount of postnatal oral retinol intake in such patients.

Omphalocele minor associated with complete absence of the large bowel.

Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.

Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels.

Acardiac fetus with large intestine only. A case report.

Acardiac twin syndrome is a rare complication affecting monozygotic twins, where one twin fails to develop normally and completely. In this report, we present an acardiac fetus that was seen for evaluation at 26 weeks of gestation. Initial routine ultrasound examination suggested anomalies. The first detailed ultrasound demonstrated a normal fetus with appropriate growth plus an acardiac twin with a hypoplastic lower limb with subcutaneous edema and intestine-like organ near it. The pregnancy was followed with serial ultrasonography and spontaneous delivery occurred at term. A normal infant was born, and after delivery of the placenta, at the chorionic plate of the placenta there was a sac with diminished fluid, containing some loops of the intestine. A thin cord of one vascular channel was attached to the common placenta. In our literature review, this type of acardiac fetus has not been reported previously.

Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease).

Comparative effect of ciprofloxacin and moxifloxacin on the modulation of bile acid profiles and gut microbiota in rats

Abstract Fluoroquinolones are an important class of antimicrobial agents to manage infectious diseases. However, knowledge about how host bile acids are modified by fluoroquinolones is limited. We investigated and compared the impact of fluoroquinolones on circulating bile acid profiles and gut microbiota from in vivo studies. We administered ciprofloxacin (100 mg/kg/day) or moxifloxacin (40 mg/kg/day) orally to male Wistar rats for seven days. Fifteen bile acids (BAs) from the serum and large intestine were quantified by HPLC-MS/MS. The diversity of gut microbiota after ciprofloxacin and moxifloxacin treatment was analyzed using high-throughput, next-generation sequencing technology. The two fluoroquinolone-treated groups had different BA profiles. Ciprofloxacin significantly reduced the hydrophobicity index of the BA pool, reduced secondary BAs, and increased taurine-conjugated primary BAs in both the serum and large intestine as compared with moxifloxacin. Besides, ciprofloxacin treatment altered intestinal microbiota with a remarkable increase in Firmicutes to Bacteroidetes ratio, while moxifloxacin exerted no effect. What we found suggests that different fluoroquinolones have a distinct effect on the host BAs metabolism and intestinal bacteria, and therefore provide guidance on the selection of fluoroquinolones to treat infectious diseases.

The role of polyamines in glucagon-like peptide-2 prevention of TPN-induced gut hypoplasia.

Total parenteral nutrition (TPN) of rats has been demonstrated to produce hypoplasia of gut mucosa, and to be associated with reduced immune response and elevated translocation of bacteria from gut to mesenteric lymph nodes, spleen and liver. Treatment of rats being maintained on TPN with the proglucagon fragment, glucagon-like peptide-2 (GLP-2), has been shown to totally prevent small intestine mucosal hypoplasia. In the present study, we found that depletion of polyamines with alpha-difluromethylornithine (DFMO) significantly reduced the efficacy of GLP-2 in preserving gut mucosa in rats maintained on TPN for 8 days. Co-infusion of GLP-2 with TPN prevented loss of protein and mucosa in duodenum, jejunum and ileum, but not in colon. Addition of DFMO to the infusate prevented the protective effects of GLP-2 in the duodenum and jejunum. In the jejunum, putrescine and spermidine were reduced in DFMO-treated rats, while the ileum exhibited reductions of these polyamines in rats infused with TPN or TPN plus GLP-2. DFMO infusion further reduced these polyamines in the ileum, while levels of spermine were increased. Concentrations of ornithine decarboxylase were elevated in jejunum of rats infused with TPN or TPN plus GLP-2, but were reduced significantly in DFMO-treated rats. These results suggest that normal levels of polyamines are necessary for the expression of GLP-2-induced hyperplasia. Differential effects of GLP-2 and DFMO across gut segments may relate to regional differences in proliferative and anti-apoptotic effects of the treatments.

Prevalence and sonographic detection of Chilaiditi's sign in cirrhotic patients without ascites.

OBJECTIVE: Although Chilaiditi's sign is uncommon, its recognition is mandatory to avoid intestinal injury during percutaneous transhepatic procedures. Our purpose was to investigate the prevalence of Chilaiditi's sign in cirrhotic patients without ascites and to review the diagnostic ability of sonography to detect this rare abnormality. CONCLUSION: The prevalence of Chilaiditi's sign was much higher in cirrhotic patients without ascites than in the general population. A precise diagnosis of Chilaiditi's sign was possible using sonography. Percutaneous transhepatic procedures can be performed safely if a route that avoids the intestine is found.

Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome.

We report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.

Exstrophy, epispadias, and cloacal and urogenital sinus abnormalities.

The congenital defects in the pelvis and perineal area, which are derived from defective development of the cloacal membrane, the urorectal septum, the mesonephric and paramesonephric (müllerian) ducts and the urogenital sinus, have been described. These may be life threatening, are often complex, and are certainly devastating to the parents. With knowledge of their embryologic origin, of their anatomy in detail, and the effect on function and drainage, treatment can be planned so that a good quality of life usually can be expected. Improved reconstructive programs and techniques can usually achieve near-normal appearance and function, with the expectation of good social adjustment.

Comprehensive planning of operative strategy for separation of ischiopagus tripus twins with particular reference to quality of life.

A 27-year-old mother was diagnosed by prenatal ultrasonography as having triplets at gestational age 32 weeks. Following cesarean section at 37 weeks, a pair of female babies were noted for the first time to be joined by a common pelvis with three lower limbs. They had separate upper gastrointestinal tracts, which joined in the distal ileum, leading to a common colon, rectum, and a single anus. Each twin had a functioning kidney, with a single ureter leading to a common bladder. A common urethra originating from the bladder neck ran into the urogenital sinus of one baby. Prior to the surgical separation, placement of four tissue expanders and 20 pneumoperitoneums were performed, in order to stretch the parietes for easier approximation of the wound edges. At 13 months of age, separation was performed, requiring 17 hours. The skin and musculature from the conjoined third leg was used as a fillet for abdominal wall closure in each patient. One infant was given the distal half of the colon and an entire anus with a temporary jejunostomy, and the right half of the bladder with the urethra. The other infant was given the proximal half of the colon with a permanent colostomy, and the left half of the bladder with permanent cystostomy using appendiceal pedicle graft (Mitrofanoff's procedure). This is the 10th case of surgical separation in ischiopagus tripus twins reported in the literature, and the seventh successful separation with both patients alive.

Diagnostic difficulties in neuronal intestinal dysplasia and segmental colitis.

An 11-month-old girl with a prolonged history of bloody, mucoid diarrhea is presented. Although the initial diagnosis given by the rectosigmoid biopsy obtained during laparotomy was neuronal intestinal dysplasia, accompanying findings including mixed inflammatory cell infiltration of the mucosa and submucosa with mucosal ulcerations suggested nonspecific colitis. The subsequent biopsy specimen that was obtained after performing colostomy and treating with broad-spectrum antibiotics and rectal irrigations showed improvement in the structure of ganglion cells and submucous and myenteric plexuses. Although the mucosal ulcerations and inflammatory reaction improved, the colonic stricture persisted, so the Duhamel procedure was performed, and the patient had an uneventful outcome. It is claimed that inflammatory disease of the rectosigmoid colon of unknown etiology and neuronal intestinal dysplasia have occurred together in the current case or that one disease might cause the other in time.

Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature.

Hereditary multiple atresia of the gastrointestinal tract is an extremely rare subgroup of intestinal atresia. The aim of this study was to report a new case, to review the literature, and to describe the unique features of this malformation. A computer-generated list of articles on this subject was obtained, and all articles relative to this malformation were reviewed. Thirty-five other well-documented cases were found in the literature. Hereditary multiple atresias have several unique features: (1) the abdominal x-ray shows signs of gastric or duodenal atresia combined with typical large rounded or oval homogeneous calcifications in the abdominal cavity, (2) intraoperatively widespread atresias (exclusively type I and II) extending mostly from stomach to rectum are found, (3) cystic dilatation of the bile ducts can be present in cases with both complete pyloric and duodenal or proximal jejunal atresia, (4) the pathogenesis is still speculative; a combined immunodeficiency should be excluded, and (5) a fatal outcome is the rule.