Four cancer cases after esophageal atresia repair: Time to start screening the upper gastrointestinal tract

Esophageal atresia(EA) is one of the most common congenital digestive malformations and requires surgical correction early in life. Dedicated centers have reported survival rates up to 95%. The most frequent comorbidities after EA repair are dysphagia(72%) and gastroesophageal reflux(GER)(67%). Chronic GER after EA repair might lead to mucosal damage, esophageal stricturing, Barrett's esophagus and eventually esophageal adenocarcinoma. Several long-term follow-up studies found an increased risk of Barrett's esophagus and esophageal carcinoma in EA patients, both at a relatively young age. Given these findings, the recent ESPGHAN-NASPGHAN guideline recommends routine endoscopy in adults born with EA. We report a series of four EA patients who developed a carcinoma of the gastrointestinal tract: three esophageal carcinoma and one colorectal carcinoma in a colonic interposition. These cases emphasize the importance of lifelong screening of the upper gastrointestinal tract in EA patients.     

Effects of Erxian decoction, a Chinese medicinal formulation, on serum lipid profile in a rat model of menopause

Background

Infantile colic is a common painful clinical condition associated with signs of distended intestines and an increase in colon peristalsis. However, clinical documentation of observed gastrointestinal functions in the condition is still lacking. Even though the ailment is common, no clear treatment guidelines exist. While acupuncture with minimal stimulation has been shown to be effective in reducing crying behaviour of infants suffering from colic, the documented effect of acupuncture on gastrointestinal function in children with infantile colic is scarce. This case series study aims to document the symptoms of routinely rated gastrointestinal function and the changes in these symptoms after minimal acupuncture in a larger group of children with infantile colic.

Methods

This study included 913 infants with normal weights, and lengths at birth. The infants' mean age was 5.4 weeks when the observations started, and had colic symptoms since two weeks after birth. Light needling stimulation of the acupuncture point LI4 was performed for 10-20 seconds bilaterally on a daily basis for a mean of 6.2 consecutive days. A questionnaire with verbal rating scales for the parents' evaluation was used before and after the treatment period.

Results

Before treatment the infants were assessed by the parents in terms of 'often have inflated stomachs' (99%) and 'seldom drool' (76%), 'regurgitate' (53%) and 'belch' (62%). Moreover, the reported frequency of defecation was 5-8 times per day (64%), with a yellowish-green colour (61%) and with a water-thin consistency (74%). After treatment, the variables of inflated stomachs, drooling and regurgitating were systematically changed, and rated by the parents as occurring 'sometimes' while belching was rated as occurring 'often' and the frequency of defecation was reduced to 1-4 times/day with a mustard yellow colour and a gruel-like consistency. The parents also rated their impression of the infants' general colic symptoms including crying behaviour as much ameliorated in 76% of the cases.

Conclusion

The results of the present study show that minimal acupuncture at LI4 in infantile colic is an effective and easy treatment procedure that, furthermore, is reported to be without serious side effects.     

Microduplication of Xp11.23p11.3 with effects on cognition,behavior, and craniofacial development

El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ～1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperactivity, learning and visual‐spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X‐linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over‐expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams‐Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co‐localize to presynaptic active zones, and play important roles in neurotransmitter release.     

Genome‐wide transcriptome analyses reveal p53 inactivation mediated loss of miR‐34a expression in malignant peripheral nerve sheath tumours

Malignant peripheral nerve sheath tumours (MPNSTs) are aggressive soft tissue tumours that occur either sporadically or in patients with neurofibromatosis type 1. The malignant transformation of the benign neurofibroma to MPNST is incompletely understood at the molecular level. We have determined the gene expression signature for benign and malignant PNSTs and found that the major trend in malignant transformation from neurofibroma to MPNST consists of the loss of expression of a large number of genes, rather than widespread increase in gene expression. Relatively few genes are expressed at higher levels in MPNSTs and these include genes involved in cell proliferation and genes implicated in tumour metastasis. In addition, a gene expression signature indicating p53 inactivation is seen in the majority of MPNSTs. Subsequent microRNA profiling of benign and malignant PNSTs indicated a relative down‐regulation of miR‐34a in most MPNSTs compared to neurofibromas. In vitro studies using the cell lines MPNST‐14 (NF1 mutant) and MPNST‐724 (from a non‐NF1 individual) show that exogenous expression of p53 or miR‐34a promotes apoptotic cell death. In addition, exogenous expression of p53 in MPNST cells induces miR‐34a and other miRNAs. Our data show that p53 inactivation and subsequent loss of expression of miR‐34a may significantly contribute to the MPNST development. Collectively, our findings suggest that deregulation of miRNAs has a potential role in the malignant transformation process in peripheral nerve sheath tumours. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Articular cartilage and labral lesions of the glenohumeral joint: diagnostic performance of 3D water-excitation true FISP MR arthrography

Objective  

To evaluate the diagnostic performance of MR arthrography in the detection of articular cartilage and labral lesions of the glenohumeral joint using a transverse 3D water-excitation true fast imaging with steady-state precession (FISP) sequence.     

Genetics of cardiovascular and renal complications in diabetes

The development of debilitating complications represents a major heathcare burden associated with the treatment of diabetes. Despite advances in new therapies for controlling hyperglycemia, the burden associated with diabetic complications remains high, especially in relation to cardiovascular and renal complications. Furthermore, an increasing proportion of patients develop type 2 diabetes at a younger age, putting them at higher risk of developing complications as a result of the increased exposure to hyperglycemia. Diabetes has become the main contributing cause to end‐stage renal disease in most countries. Although there has been important breakthroughs in our understanding of the genetics of type 1 and type 2 diabetes, bringing important insights towards the pathogenesis of diabetes, there has been comparatively less progress in our understanding of the genetic basis of diabetic complications. Genome‐wide association studies are beginning to expand our understanding of the genetic architecture relating to diabetic complications. Improved understanding of the genetic basis of diabetic cardiorenal complications might provide an opportunity for improved risk prediction, as well as the development of new therapies.     

MRI of meniscal lesions: soft-copy (PACS) and hard-copy evaluation versus reviewer experience

OBJECTIVE: The purpose of our study was to compare diagnostic performance, reviewer confidence, and time requirements in the MRI diagnosis of meniscal tears for three types of reviewers and two types of image documentations (PACS vs hard copies). MATERIALS AND METHODS: An experienced musculoskeletal radiologist (reviewer 1), a fellow in musculoskeletal radiology (reviewer 2), and a junior staff member in orthopedic surgery (reviewer 3) evaluated MR images displayed on PACS monitors and hard copies independently and in a blinded fashion with regard to the presence or absence of meniscal tears. Seventy-one patients (mean age, 45.4 years; range, 16-80 years) were consecutively included if they had undergone both MRI of the knee and arthroscopy within 4 months. Arthroscopy was the standard of reference. Evaluation time and the reviewer's confidence in his or her diagnosis (Visual Analogue Scale, possible values of 0-100) were determined. RESULTS: Accuracies, sensitivities, and specificities in diagnosing meniscal tears were 80-87%, 63-85%, and 87-93% for soft copies and 82-85%, 64-76%, and 87-94.0%, respectively, for hard copies. Intrareviewer differences between PACS and hard copies were not significant for any of the three reviewers (McNemar tests). Reviewer 3 was less sensitive but more specific in the diagnosis of meniscal tears than reviewers 1 and 2. This difference was significant for both the PACS and hard copies. The reviewers' confidence in their diagnoses and evaluation times were not significantly different for PACS and hard copies (analysis of variance with Bonferroni post hoc analysis). CONCLUSION: Differences in the diagnostic performance of suspected meniscal tears depend on reviewer experience rather than on the type of documentation.     

Ligaments of the Lisfranc joint in MRI: 3D-SPACE (sampling perfection with application optimized contrasts using different flip-angle evolution) sequence compared to three orthogonal proton-density fat-saturated (PD fs) sequences

Purpose

To compare the detection rate and visibility of the ligaments in the Lisfranc joint with a single 3D (?SPACE) MR sequence and three orthogonal PD fat-saturated sequences.

Materials and methods

Thirty-one asymptomatic feet and 15 patients with posttraumatic pain in the Lisfranc joint were evaluated with a 3D-SPACE-sequence (0.5 mm section thickness, acquisition time 10:22 min, secondary reformations) and three orthogonal PD fs sequences (2 mm section thickness, 9:20 min). The Lisfranc-ligament, the dorsal and plantar tarsometatarsal ligaments (TMT), the dorsal, interosseous, and plantar intermetatarsal ligaments (IMT) (24 ligaments for each foot) were assessed.

Results

In asymptomatic feet, 692 ligaments were detected with the SPACE sequence, thereof 90.6 % exhibited normal signal, and most (96.9 %) were completely visible on one single image. A total of 659 ligaments were detected with the PD fs sequence, thereof 86.6 % yielded normal signal, and 28.5 % were completely visible on one single image. In patients, 327 ligaments were detected with SPACE, thereof 50.6 % appeared completely visible with high signal. On PD fs, 308 ligaments were detected, 42.2 % of the ligaments had high signals.

Conclusions

The ligaments of the Lisfranc joint are better detected with a single 3D-SPACE sequence and secondary reformations than with three orthogonal PD fs sequences.