Characteristics and management of congenital esophageal stenosis: findings from a multicenter study

Background

Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES.

Methods

Medical records of all patients with CES included in the French Network on Esophageal Malformations and Congenital Diseases were reviewed retrospectively with regard to diagnosis, treatment, and outcome.

Results

Over 18 years, 61 patients (30 boys) had CES, and 29 (47%) of these patients also had EA. The mean age at diagnosis was 24 months (1 day to 14 years) and was younger in patients with CES and EA than in those with isolated CES (7 vs. 126 months, p?<?0.05). Twenty-one of the 61 patients with CES had no clinical symptoms: in three patients, the findings were incidental, and in 18 of the 29 patients with associated EA, CES was diagnosed at the time of surgical repair of EA or during a postoperative systematic esophageal barium study. In the 40 other patients, at diagnosis, 50% presented with dysphasia, 40% with vomiting, 50% with food impaction, and 42% with respiratory symptoms. Diagnosis of CES was confirmed by esophageal barium study (56/61) and/or esophageal endoscopy (50/61). Sixteen patients had tracheobronchial remnants (TBR), 40 had fibromuscular stenosis (FMS), and five had membrane stenosis (MS). Thirty-four patients (56%) were treated by dilation only (13/34 remained asymptomatic at follow-up); 15 patients were treated by dilation but required later surgery because of failure (4/15 remained asymptomatic at follow-up); and nine patients had a primary surgical intervention (4/9 were asymptomatic at follow-up). Dilation was complicated by esophageal perforation in two patients (3.4%). At follow-up, dysphagia remained in 36% (21/58) of patients, but the incidence did not differ between the EA and the isolated CS groups (10/29 vs. 7/32, p?=?0.27).

Conclusions

CS diagnosis can be delayed when associated with EA. Dilation may be effective for treating patients with FMS and MS, but surgical repair is often required for those with TBR. Our results show clearly that, regardless of the therapeutic option, dysphagia occurs frequently, and patients with CES should be followed over the long term.

     

Late presentation of a mucinous ovarian adenocarcinoma which was initially diagnosed as a primary pancreatic carcinoma: a case report and review of the literature

Introduction

Craniosynostosis can affect the skull in various ways. The most common forms are abnormal skull shape and beaten copper pattern, while Lückenschädel (or lacunar skull) is one of the least common forms.

Case presentation

We report the case of a 3-month-old Caucasian boy with multiple suture craniosynostosis and with acquired craniomeningocele presenting as a bulging mass in the lateral occipital area.

Conclusion

To the best of our knowledge, this is the first report of a patient with multiple suture craniosynostosis and acquired craniomeningocele.     

Eradication of intractable malignant ascites by abdominocentesis,reinfusion of concentrated ascites,and adoptive immunotherapy with dendritic cells and activated killer cells in a patient with recurrent lung cancer: a case report

Introduction

Dynamic retinal vessel analysis represents a well-established method for the assessment of vascular reactivity during both normal conditions and after various provocations. We present a case where the subject showed abnormal retinal vessel reactivity after fasting voluntarily for 20 hours.

Case presentation

A healthy, 21-year-old man who fasted voluntarily for 20 hours exhibited abnormal retinal vascular reactivity (dilation and constriction) after flicker provocation as measured using the Dynamic Retinal Vessel Analyser (Imedos, Jena, Germany).

Conclusion

The abnormal vascular reactivity induced by fasting was significant; abnormal levels of important nutrients due to fasting and dehydration could play a role through altering the concentration of vasoactive substances such as nitric oxide. This hypothesis needs further investigation.     

Non-invasive algorithm for bowel motility estimation using a back-propagation neural network model of bowel sounds

Background

Although cardiac auscultation remains important to detect abnormal sounds and murmurs indicative of cardiac pathology, the application of electronic methods remains seldom used in everyday clinical practice. In this report we provide preliminary data showing how the phonocardiogram can be analyzed using color spectrographic techniques and discuss how such information may be of future value for noninvasive cardiac monitoring.

Methods

We digitally recorded the phonocardiogram using a high-speed USB interface and the program Gold Wave http://www.goldwave.com in 55 infants and adults with cardiac structural disease as well as from normal individuals and individuals with innocent murmurs. Color spectrographic analysis of the signal was performed using Spectrogram (Version 16) as a well as custom MATLAB code.

Results

Our preliminary data is presented as a series of seven cases.

Conclusions

We expect the application of spectrographic techniques to phonocardiography to grow substantially as ongoing research demonstrates its utility in various clinical settings. Our evaluation of a simple, low-cost phonocardiographic recording and analysis system to assist in determining the characteristic features of heart murmurs shows promise in helping distinguish innocent systolic murmurs from pathological murmurs in children and is expected to useful in other clinical settings as well.     

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Background

Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, which catalyzes the first two reactions in the synthesis of sialic acid. Reduced sialylation of muscle glycoproteins, such as α-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM.

Methods

We treated 4 HIBM patients with intravenous immune globulin (IVIG), in order to provide sialic acid, because IgG contains 8 μmol of sialic acid/g. IVIG was infused as a loading dose of 1 g/kg on two consecutive days followed by 3 doses of 400 mg/kg at weekly intervals.

Results

For all four patients, mean quadriceps strength improved from 19.0 kg at baseline to 23.2 kg (+22%) directly after IVIG loading to 25.6 kg (+35%) at the end of the study. Mean shoulder strength improved from 4.1 kg at baseline to 5.9 kg (+44%) directly after IVIG loading to 6.0 kg (+46%) at the end of the study. The composite improvement for 8 other muscle groups was 5% after the initial loading and 19% by the end of the study. Esophageal motility and lingual strength improved in the patients with abnormal barium swallows. Objective measures of functional improvement gave variable results, but the patients experienced improvements in daily activities that they considered clinically significant. Immunohistochemical staining and immunoblotting of muscle biopsies for α-dystroglycan and NCAM did not provide consistent evidence for increased sialylation after IVIG treatment. Side effects were limited to transient headaches and vomiting.

Conclusion

The mild benefits in muscle strength experienced by HIBM patients after IVIG treatment may be related to the provision of sialic acid supplied by IVIG. Other sources of sialic acid are being explored as treatment options for HIBM.     

Should right ventricle dilatation during exercise have clinical implications in patients with chronic thromboembolic pulmonary hypertension? Case report

Background

The occurrence of pulmonary artery obstruction in the course of acute aortic dissection is an unusual complication. The mechanism implicated is the rupture of the outer layer of the aorta and the subsequent hemorrhage into the adventitia of the pulmonary artery that causes its wall thickening and, at times, produces extrinsic obstruction of the vessel. There are no reports of this complication in acute intramural hematoma.

Case presentation

An 87-year-old woman was admitted to the hospital in shock after having had severe chest pain followed by syncope. An urgent transesophageal echocardiogram revealed the presence of acute intramural hematoma, no evidence of aortic dissection, severe pericardial effusion with cardiac tamponade, and periaortic hematoma that involved the pulmonary artery generating circumferential wall thickening of its trunk and right branch with no evidence of flow obstruction. Urgent surgery was performed but the patient died in the operating room. The post mortem examination, in the operating room, confirmed that there was an extensive hematoma around the aorta and beneath the adventitial layer of the pulmonary artery, with no evidence of flow obstruction.

Conclusion

This is the first time that this rare complication is reported in the scenario of acute intramural hematoma and with the transesophageal echocardiogram as the diagnostic tool.     

Une syringocèle révélée par un abcès périntéal

Purpose

The authors present a clinical report of a perforate syringocele diagnosed in a male patient and they review the clinical, radiological and therapeutic aspects of this disease.

Case report

A 50-year-old man attended the emergency room with perineal abscess. Computerized Tomography (CT) scan was used to establish the diagnosis. This patient also underwent urethrocystoscopy, sonography and retrograde urethrography.

Results

Treatment consisted of open surgical evacuation of the perineal abscess with bladder catheter. Urethrocystoscopy showed a large perforate syringocele in the urethra with no need for endoscopy marsupialization. No recurrence was observed at follow-up at 3 months.

Conclusion

Syringocele is a rare malformation which usually is asymptomatic. It can be congenital or acquired and can be classified into four morphological types. The most frequent treatment is endoscopic marsupialization of the syringocèle. Open surgical excision is recommended for complicated syringocèle with abscess or perineal pain.     

Glucose challenge increases circulating progenitor cells in Asian Indian male subjects with normal glucose tolerance which is compromised in subjects with pre-diabetes: A pilot study

Background

Patients with acute myocardial infarction and newly detected abnormal glucose regulation have been shown to have a less favourable prognosis compared to patients with normal glucose regulation. The importance and timing of oral glucose tolerance testing (OGTT) in patients with acute myocardial infarction without known diabetes is uncertain. The aim of the present study was to evaluate the impact of abnormal glucose regulation classified by an OGTT in-hospital and at three-month follow-up on clinical outcome in patients with acute ST elevation myocardial infarction (STEMI) without known diabetes.

Methods

Patients (n = 224, age 58 years) with a primary percutanous coronary intervention (PCI) treated STEMI were followed for clinical events (all-cause mortality, non-fatal myocardial re-infarction, recurrent ischemia causing hospital admission, and stroke). The patients were classified by a standardised 75 g OGTT at two time points, first, at a median time of 16.5 hours after hospital admission, then at three-month follow-up. Based on the OGTT results, the patients were categorised according to the WHO criteria and the term abnormal glucose regulation was defined as the sum of impaired fasting glucose, impaired glucose tolerance and type 2-diabetes.

Results

The number of patients diagnosed with abnormal glucose regulation in-hospital and at three-month was 105 (47%) and 50 (25%), respectively. During the follow up time of (median) 33 (27, 39) months, 58 (25.9%) patients experienced a new clinical event. There were six deaths, 15 non-fatal re-infarction, 33 recurrent ischemia, and four strokes. Kaplan-Meier analysis of survival free of composite end-points showed similar results in patients with abnormal and normal glucose regulation, both when classified in-hospital (p = 0.4) and re-classified three months later (p = 0.3).

Conclusions

Patients with a primary PCI treated STEMI, without previously known diabetes, appear to have an excellent long-term prognosis, independent of the glucometabolic state classified by an OGTT in-hospital or at three-month follow-up.

Trial registration

The trial is registered at http://www.clinicaltrials.gov, NCT00926133.     

Estimating the absorptive root area in Norway spruce by using the common direct and indirect earth impedance methods

Aims

Estimates of root absorption magnitude are needed for the balanced management of forest ecosystems, but no methods able to work on the whole tree and stand level were available. Modified earth impedance method was developed recently and here it was tested, by comparing the results with those obtained by combination of several classical methods.

Methods

We used direct (soil cores, scanning and microscopy) and indirect (sap flow patterns and modified earth impedance) methods in an attempt to estimate the absorptive root area indexes (RAI) at two sites of about 25 and 40-years-old Norway spruce. We considered the geometric surfaces of all scanned fine roots to be equal to the fine root absorptive area (RAI _scan ). To estimate the potentially physically permeable area of fine roots, we microscopically evaluated the point of secondary xylem appearance and calculated the geometric area of root portions with primary structure (RAI _micro ). We termed the area of electrically conductive root surface as the active (ion) absorptive area (RAI _mei ) and measured its extent by the modified earth impedance (MEI) method.

Results

The highest values for absorptive root areas at the two experimental sites we obtained with the scanning method (RAI _scan was considered to be 100%), followed by the RAI _micro (51%) and RAI _mei (32%). RAImei reached about 2/3 of RAImicro. The surface area of the ectomycorrhizal hyphae was an order of magnitude larger than that of all fine roots, but the MEI did not measure such increase.

Conclusions

We showed that the absorptive root area, indirectly estimated by the MEI, provides consistent results that approach the values obtained for fine roots with a primary structure estimated by traditional direct methods. The similar range of the values for the absorptive root surface area obtained by microscopy and by the MEI method indicates that this method is feasible and that it could be used to determine the extent of active absorptive root surface areas in forests.     

Root growth in biopores—evaluation with in situ endoscopy

Background and aims

The significance of biopores for nutrient acquisition from the subsoil depends on root-soil contact, which in turn is influenced by root architecture. The aim of this study was to detect differences regarding the architecture and root-soil contact of homorhizous barley roots (Hordeum vulgare L.) and allorhizous oilseed rape roots (Brassica napus L.) growing in biopores.

Methods

In situ endoscopy was used as a technique that allows non-destructive display of pore wall characteristics and root morphology inside large biopores under field conditions.

Results

For both crops, about 85 % of all roots did establish contact to the pore wall. However, according to their different root architecture, the two crops varied in their strategy of resource acquisition: While barley was characterized by thin vertical or ingrowing roots, most of them in direct contact to the pore wall, oilseed rape established contact to the pore wall predominantly via lateral roots.

Conclusions

Root morphological and pore wall assessment with in situ endoscopy in combination with detailed studies of soil biochemical and soil physical parameters of the pore wall is considered an essential prerequisite for more precise future modelling of nutrient acquisition and uptake.     

A proof of the DBRF-MEGN method, an algorithm for deducing minimum equivalent gene networks

Background

We previously developed the DBRF-MEGN (difference-based regulation finding-minimum equivalent gene network) method, which deduces the most parsimonious signed directed graphs (SDGs) consistent with expression profiles of single-gene deletion mutants. However, until the present study, we have not presented the details of the method's algorithm or a proof of the algorithm.

Results

We describe in detail the algorithm of the DBRF-MEGN method and prove that the algorithm deduces all of the exact solutions of the most parsimonious SDGs consistent with expression profiles of gene deletion mutants.

Conclusions

The DBRF-MEGN method provides all of the exact solutions of the most parsimonious SDGs consistent with expression profiles of gene deletion mutants.     

Intérêt de l’abaissement du testicule non descendu chez l’adulte. Etude à propos de 259 patients

Introduction

Undescended testis is a frequent congenital disease, more often diagnosed and treated during childhood. However, due to ignorance or negligence, this disease can be seen even after puberty, when it raises a therapeutic problem: is orchidopexy still useful? This study was designed to evaluate the outcome of orchidopexy at adulthood in terms of improvement of fertility and prevention of malignant degeneration.

Material and methods

Retrospective study performed over a 23-year period (1983–2005). We have found 259 patients with undescended testis diagnosed and treated after the age of 18 years.

Results

The mean age of patients was 24 years (range: 18–63). In the majority of cases, undescended testis was diagnosed at a systemic medical examination in 199 patients (77% of cases), and in a context of infertility in 33 patients, testicular malignancy in 8 patients, testicular torsion in 2 patients and, in 17 cases, undescended testis had been known since birth but was neglected by the parents. Undescended testis was unilateral in 209 cases and bilateral in 50 cases. Out of 37 couples, only 4 gave birth to children (10.8% paternity rate). Sperm analysis was abnormal in all infertile patients. All patients were treated by orchidopexy, except for 36 patients in whom orchidectomy was performed due to testicular atrophy (27 cases), malignancy (8 cases) or necrosis (1 case). Biopsy of the intrascrotal testis was performed in 3 patients with unilateral cryptorchidism. Histological examination was normal in two cases and abnormal in one case. The long-term outcome was characterized by:

1. Testicular atrophy in 6 patients (2.7% of cases).
2. Progression to malignancy in 3 patients (1.3% of cases).
3. Improvement of sperm parameters in 16 of 33 infertile patients (48.5%); 4 patients fathered children after treatment.

Conclusion

Orchidopexy at adulthood can lead to improvement of infertility. It can also decrease the incidence of malignancy and facilitate clinical examination looking for possible malignancy. However, the best treatment remains preventive, based on early diagnosis and orchidopexy.     

Aggressive low grade middle ear adenocarcinoma with multiple recurrences: a case report

Background

Special stains, such as reticulin stain and CD34 immunostain, are very helpful in the diagnosis of well differentiated hepatocellular carcinoma (HCC). Most studies have shown that absent or decreased reticulin stain or an abnormal reticulin pattern with widened trabeculae is reliable for the diagnosis of well-differentiated HCC.

Case report

We report here two cases of well differentiated HCC with an unusual reticulin staining pattern. A strongly positive reticulin network was preserved within the tumor, which surrounded individual tumor cells in a monolayered trabecular pattern. At the same time, an increased CD34 stain was present in the tumor.

Conclusions

This unusual reticulin pattern represents part of the diverse reticulin staining patterns seen in HCC. Although this staining pattern is rare, it should be recognized when diagnosing well-differentiated HCC in small samples such as cellblock of fine needle aspiration or small core biopsies.     

miR-223 regulates migration and invasion by targeting Artemin in human esophageal carcinoma

Background

Artemin (ARTN) is a neurotrophic factor belonging to the glial cell-derived neurotrophic factor family of ligands. To develop potential therapy targeting ARTN, we studied the roles of miR-223 in the migration and invasion of human esophageal carcinoma.

Methods

ARTN expression levels were detected in esophageal carcinoma cell lines KYSE-150, KYSE-510, EC-9706, TE13, esophageal cancer tissues and paired non-cancerous tissues by Western blot. Artemin siRNA expression vectors were constructed to knockdown of artemin expression mitigated migration and invasiveness in KYSE150 cells. Monolayer wound healing assay and Transwell invasion assay were applied to observe cancer cell migration and invasion. The relative levels of expression were quantified by real-time quantitative PCR.

Results

ARTN expression levels were higher in esophageal carcinoma tissue than in the adjacent tissue and was differentially expressed in various esophageal carcinoma cell lines. ARTN mRNA contains a binding site for miR-223 in the 3'UTR. Co-transfection of a mir-223 expression vector with pMIR-ARTN led to the reduced activity of luciferase in a dual-luciferase reporter gene assay, suggesting that ARTN is a target gene of miR-223. Overexpression of miR-223 decreased expression of ARTN in KYSE150 cells while silencing miR-223 increased expression of ARTN in EC9706 cells. Furthermore, overexpression of miR-223 in KYSE150 cells decreased cell migration and invasion. Silencing of miR-223 in EC9706 cells increased cell migration and invasiveness.

Conclusions

These results reveal that ARTN, a known tumor metastasis-related gene, is a direct target of miR-223 and that miR-223 may have a tumor suppressor function in esophageal carcinoma and could be used in anticancer therapies.     

A role for Phospholipase D in Drosophila embryonic cellularization

Background

Cellularization of the Drosophila embryo is an unusually synchronous form of cytokinesis in which polarized membrane extension proceeds in part through incorporation of new membrane via fusion of apically-translocated Golgi-derived vesicles.

Results

We describe here involvement of the signaling enzyme Phospholipase D (Pld) in regulation of this developmental step. Functional analysis using gene targeting revealed that cellularization is hindered by the loss of Pld, resulting frequently in early embryonic developmental arrest. Mechanistically, chronic Pld deficiency causes abnormal Golgi structure and secretory vesicle trafficking.

Conclusion

Our results suggest that Pld functions to promote trafficking of Golgi-derived fusion-competent vesicles during cellularization.     

Nitrous oxide may not increase the risk of cancer recurrence after colorectal surgery: a follow-up of a randomized controlled trial

Background

Even the best cancer surgery is usually associated with minimal residual disease. Whether these remaining malignant cells develop into clinical recurrence is at least partially determined by adequacy of host defense, especially natural killer cell function. Anesthetics impair immune defenses to varying degrees, but nitrous oxide appears to be especially problematic. We therefore tested the hypothesis that colorectal-cancer recurrence risk is augmented by nitrous oxide administration during colorectal surgery.

Methods

We conducted a 4- to 8-year follow-up of 204 patients with colorectal cancer who were randomly assigned to 65% nitrous oxide (n = 97) or nitrogen (n = 107), balanced with isoflurane and remifentanil. The primary outcome was the time to cancer recurrence. Our primary analysis was a multivariable Cox-proportional-hazards regression model that included relevant baseline variables. In addition to treatment group, the model considered patient age, tumor grade, dissemination, adjacent organ invasion, vessel invasion, and the number of nodes involved. The study had 80% power to detect a 56% or greater reduction in recurrence rates (i.e., hazard ratio of 0.44 or less) at the 0.05 significance level.

Results

After adjusting for significant baseline covariables, risk of recurrence did not differ significantly for nitrous oxide and nitrogen, with a hazard ratio estimate (95% CI) of 1.10 (0.66, 1.83), P = 0.72. No two-way interactions with the treatment were statistically significant.

Conclusion

Colorectal-cancer recurrence risks were not greatly different in patients who were randomly assigned to 65% nitrous oxide or nitrogen during surgery. Our results may not support avoiding nitrous oxide use to prevent recurrence of colorectal cancer.

Implications Statement

The risk of colorectal cancer recurrence was similar in patients who were randomly assigned to 65% nitrous oxide or nitrogen during colorectal surgery.

Trial Registration

Current Controlled Clinical Trials NCT00781352 http://www.clinicaltrials.gov     

Intracardiac injection of a capsid-modified Ad5/35 results in decreased heart toxicity when compared to standard Ad5

Background

Human immunodeficiency virus type 1 (HIV-1) Nef-encoded protein plays key functions at almost all stages of the viral life cycle, but its role in translation is largely unknown.

Methods

To determine the effect of Nef on translation we used an in vitro translation assay. The detection of Nef/RPS10 complexes and the presence of 18S rRNA and tRNAs in the complexes were performed by coimmunoprecipitation and RT-PCR assay.

Results

We observed that the HIV-1 Nef protein specifically impaired translation in vitro. We observed the interaction of Nef with RPS10 by coimmunoprecipitation assay. In addition 18S rRNA and tRNAs were present in the Nef/RPS10 complexes.

Conclusions

Our results are consistent with a model in which the Nef protein by binding to two components of the 40S small ribosomal subunit, RPS10 and 18S rRNA, and to a lesser extent to tRNAs, could lead to decreased protein synthesis.     

Nitrate-use traits of understory plants as potential regulators of vegetation distribution on a slope in a Japanese cedar plantation

Background and aims

Plant physiological traits and their relation to soil N availability was investigated as regulators of the distribution of understory shrub species along a slope in a Japanese cedar (Cryptomeria japonica) plantation in central Japan.

Methods

At the study site, previous studies demonstrated that both net and gross soil nitrification rates are high on the lower slope and there are dramatic declines in different sections of the slope gradient. We examined the distributions of understory plant species and their nitrate (NO ₃ ^? -N) use traits, and compared the results with the soil traits.

Results

Our results show that boundaries between different dominant understory species correspond to boundaries between different soil types. Leucosceptrum stellipilum occurs on soil with high net and gross nitrification rates. Hydrangea hirta is dominant on soil with high net and low gross nitrification rates. Pieris japonica occurs on soil with very low net and gross nitrification rates. Dominant understory species have species-specific physiological traits in their use of NO ₃ ^? -N. Pieris japonica lacks the capacity to use NO ₃ ^? -N as a N source, but other species do use NO ₃ ^? -N. Lindera triloba, whose distribution is unrelated to soil NO ₃ ^? -N availability, changes the extent to which it uses NO ₃ ^? -N in response to soil NO ₃ ^? -N availability.

Conclusions

Our results indicate that differences in the physiological capabilities and adaptabilities of plant species in using NO ₃ ^? -N as a N source regulate their distribution ranges. The identity of the major form of available soil N is therefore an environmental factor that influences plant distributions.     

Effect of left atrial compliance on pulmonary artery pressure: a case report

Background

Pericardial tumours are unusual and may be difficult to characterise with imaging. They manifest as large, non-contractile, solid masses within the pericardium. Presenting symptoms include heart failure, arrythmias, sudden death, cyanosis and chest pain.

Case presentation

We describe a case of massive pericardial fibroma in a 52 year old woman, who presented with palpitations only.

Conclusion

We illustrate the different imaging modalities available to image this tumour prior to surgical resection, and indicate the strengths and weaknesses of each.