Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?

We report on two familial cases from a non-consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The fetal karyotype was normal and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. Further interventions were necessary because of recurrent obstructions. During the following pregnancy, a dilatation of the fetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post-mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia (HMIA). An association between multiple intestinal and choanal atresia has never been reported. We suggest it could correspond to a new autosomal recessive entity for which cytogenetic investigations and high-resolution array CGH revealed no visible anomalies.

Effects of 2 different prior endurance exercises on whole-body fat oxidation kinetics: light vs. heavy exercise.

This study aimed to compare the effects of 2 different prior endurance exercises on subsequent whole-body fat oxidation kinetics. Fifteen men performed 2 identical submaximal incremental tests (Incr2) on a cycle ergometer after (i) a ∼40-min submaximal incremental test (Incr1) followed by a 90-min continuous exercise performed at 50% of maximal aerobic power-output and a 1-h rest period (Heavy); and (ii) Incr1 followed by a 2.5-h rest period (Light). Fat oxidation was measured using indirect calorimetry and plotted as a function of exercise intensity during Incr1 and Incr2. A sinusoidal equation, including 3 independent variables (dilatation, symmetry and translation), was used to characterize the fat oxidation kinetics and to determine the intensity (Fat(max)) that elicited the maximal fat oxidation (MFO) during Incr. After the Heavy and Light trials, Fat(max), MFO, and fat oxidation rates were significantly greater during Incr2 than Incr1 (p < 0.001). However, Δ (i.e., Incr2-Incr1) Fat(max), MFO, and fat oxidation rates were greater in the Heavy compared with the Light trial (p < 0.05). The fat oxidation kinetics during Incr2(Heavy) showed a greater dilatation and rightward asymmetry than Incr1(Heavy), whereas only a greater dilatation was observed in Incr2(Light) (p < 0.05). This study showed that although to a lesser extent in the Light trial, both prior exercise sessions led to an increase in Fat(max), MFO, and absolute fat oxidation rates during Incr2, inducing significant changes in the shape of the fat oxidation kinetics.

Hypoxia: unique myocardial morphology?

OBJECTIVE: The objective of this study was to investigate the effects of chronic and intermittent hypoxia on myocardial morphology. METHODS: Rats randomly divided into 3 groups (n = 14 per group) were exposed to room air (Fio(2) = 0.21), chronic hypoxia (Fio(2) = 0.10), and intermittent hypoxia (chronic hypoxia with 1 hour per day of room air) for 2 weeks. Weight, blood gas analysis, hematocrit, hemoglobin, red cells, and right and left ventricular pressures were measured. Hearts excised for morphologic examination were randomly divided into 2 groups (9 per group for gross morphologic measurements and 5 per group for histologic and morphometric analysis). The weight ratio of right to left ventricles plus interventricular septum, myocyte diameter, cross-sectional area, and free wall thickness in right and left ventricles were measured. RESULTS: Despite the same polycythemia, the right ventricle pressure (P <.05) and ratio of right to left ventricle pressures (P <.02) were higher after chronic hypoxia than intermittent hypoxia. The ratio of heart weight to total body weight and the ratio of right to left ventricles plus interventricular septum was higher (P <.01) in chronic and intermittent hypoxia than in normoxia. Myocyte diameter was not different between the right and left ventricles in normoxia, whereas right ventricle myocytes were larger than left ventricle myocytes in chronic hypoxia (P <.05) and intermittent hypoxia (P <.0005). There was marked dilatation of right ventricle size (P <.001) and marked reduction of left ventricle (P <.001) size in chronic and intermittent hypoxia compared with normoxia. The total ventricular area (right ventricle plus left ventricle area) remained the same in all groups. The wall thickness ratio in chronic hypoxia and intermittent hypoxia was increased (P <.001) compared with normoxia in the right ventricle but not in the left ventricle. CONCLUSIONS: Intermittent reoxygenation episodes do not induce a lesser ventricular hypertrophic response than observed with chronic hypoxia. The functional myocardial preconditioning consequence of intermittent reoxygenation is not supported by structural differences evident with the available techniques.

Impact of induction therapy on airway complications after sleeve lobectomy for lung cancer.

BACKGROUND: Sleeve lobectomy is a valid alternative to pneumonectomy for the treatment of centrally located operable non-small cell lung cancer (NSCLC), but concern has been evoked regarding a potentially increased risk of bronchial anastomosis complications after induction therapy. This study examined the impact of induction therapy on airway healing after sleeve lobectomy for NSCLC. METHODS: Bronchial anastomosis complications were recorded with respect to the induction regimen applied (neoadjuvant chemotherapy vs chemoradiotherapy) in a consecutive series of patients with sleeve lobectomy for NSCLC. RESULTS: Ninety-nine patients underwent sleeve resection, 28 of them after induction therapy. Twelve patients received chemotherapy alone, and 16 patients had radiochemotherapy. There were no significant differences in postoperative 90-day mortality (3.6% vs 2.8%) and morbidity (54% vs 49%) for patients with and without induction therapy. Bronchial anastomosis complications occurred in 3 patients (10.8%) with neoadjuvant therapy and in 2 (2.8%) without (p = 0.3). In the induction therapy group, two bronchial stenoses occurred after radiochemotherapy and one bronchopleural fistula after chemotherapy alone. In patients without induction therapy, one bronchial stenosis and one bronchopleural fistula were observed. All bronchial stenoses were successfully treated by dilatation, and both bronchopleural fistulas occurring after right lower lobectomy were successfully treated by reoperation and completion sleeve bilobectomy with preservation of the upper lobe. CONCLUSIONS: Sleeve lobectomy for NSCLC can be safely performed after induction chemotherapy and radiochemotherapy with mortality and incidence of airway complications similar to that observed in nonpretreated patients. The treatment of airway complications does not differ for patients with and without induction therapy.

Clinical and radiological findings in Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.

Preoperative upper gastrointestinal testing can help predicting long-term outcome after gastric banding for morbid obesity.

BACKGROUND: Gastric banding (GB) is one of the most popular bariatric procedures for morbid obesity. Apart from causing weight loss by alimentary restriction, it can interfere with functions of the esophagus and upper stomach. The aim of this study was to evaluate if the results of extensive preoperative upper GI testing were correlated with long-term outcome and complications after GB. METHODS: Using a prospectively maintained computerized database including all the patients undergoing bariatric operations in both our hospitals, we performed a retrospective analysis of the patients who underwent complete upper gastrointestinal (GI) testing (endoscopy, pH monitoring, and manometry) before GB. RESULTS: One hundred thirty-four patients underwent complete testing before GB. Abnormal pH monitoring (increased total reflux time, increased diurnal reflux time, increased number of reflux episodes) predicted the development of complications and especially pouch dilatation and food intolerance. The mean De Meester score was higher among patients who developed complications than in the remaining ones (25.4 vs 17.7, P=0.03). High lower esophageal sphincter pressure also predicted progressive long-term food intolerance. Endoscopic findings were not predictive of the long-term outcome. CONCLUSIONS: There is some association between the function of the upper digestive tract and long-term complications after gastric banding. Abnormal pH monitoring predicts overall long-term complications, especially food intolerance with or without reflux, and pouch dilatation, and a high lower esophageal sphincter pressure predicts long-term food intolerance. Extended upper gastrointestinal testing with endoscopy, 24-h pH monitoring, and esophageal manometry is probably worthwhile in selecting patients for gastric banding.

Symmetries of the free Schrödinger equation in the non-commutative plane

We study all the symmetries of the free Schr odinger equation in the non-commu- tative plane. These symmetry transformations form an infinite-dimensional Weyl algebra that appears naturally from a two-dimensional Heisenberg algebra generated by Galilean boosts and momenta. These infinite high symmetries could be useful for constructing non-relativistic interacting higher spin theories. A finite-dimensional subalgebra is given by the Schröodinger algebra which, besides the Galilei generators, contains also the dilatation and the expansion. We consider the quantization of the symmetry generators in both the reduced and extended phase spaces, and discuss the relation between both approaches.

Symmetries of the free Schrödinger equation in the non-commutative plane

We study all the symmetries of the free Schrödinger equation in the non-commu- tative plane. These symmetry transformations form an infinite-dimensional Weyl algebra that appears naturally from a two-dimensional Heisenberg algebra generated by Galilean boosts and momenta. These infinite high symmetries could be useful for constructing non-relativistic interacting higher spin theories. A finite-dimensional subalgebra is given by the Schröodinger algebra which, besides the Galilei generators, contains also the dilatation and the expansion. We consider the quantization of the symmetry generators in both the reduced and extended phase spaces, and discuss the relation between both approaches.

Therapeutic concepts in adult and paediatric eosinophilic oesophagitis.

Eosinophilic oesophagitis (EoE) was first described in the early 1990s. Although initially reported to be a rare entity, EoE has rapidly become a regularly diagnosed disease with a prevalence of approximately 1 in 2,000 individuals in the USA and Europe. The disease is characterized by a combination of oesophageal dysfunction and predominant eosinophilic infiltration of the oesophageal tissue. At diagnosis, other diseases that can be associated with oesophageal eosinophilic infiltration must be ruled out. Children with EoE present with a wide variety of symptoms, whereas adults mostly present with dysphagia for solid food and chest pain. Histologic features of EoE resemble those of T-helper type 2 inflammation. Endoscopy should be carried out to establish the diagnosis, but endoscopic abnormalities are not pathognomonic for EoE and the examination might not show histologic abnormality. Treatment modalities for EoE include drugs (corticosteroids, PPIs, antiallergic and biologic agents), hypoallergenic diets and oesophageal dilatation for strictures that are unresponsive to medical therapy. Unresolved eosinophilic inflammation leads to the formation of oesophageal strictures, which probably increase the risk of food bolus impactions. To date, long-term strategies for the therapeutic management of this chronic inflammatory disease remain poorly defined.

Coronary artery anomalies and variants: technical feasibility of assessment with coronary MR angiography at 3 T.

The purpose of this study was to prospectively use a whole-heart three-dimensional (3D) coronary magnetic resonance (MR) angiography technique specifically adapted for use at 3 T and a parallel imaging technique (sensitivity encoding) to evaluate coronary arterial anomalies and variants (CAAV). This HIPAA-compliant study was approved by the local institutional review board, and informed consent was obtained from all participants. Twenty-two participants (11 men, 11 women; age range, 18-62 years) were included. Ten participants were healthy volunteers, whereas 12 participants were patients suspected of having CAAV. Coronary MR angiography was performed with a 3-T MR imager. A 3D free-breathing navigator-gated and vector electrocardiographically-gated segmented k-space gradient-echo sequence with adiabatic T2 preparation pulse and parallel imaging (sensitivity encoding) was used. Whole-heart acquisitions (repetition time msec/echo time msec, 4/1.35; 20 degrees flip angle; 1 x 1 x 2-mm acquired voxel size) lasted 10-12 minutes. Mean examination time was 41 minutes +/- 14 (standard deviation). Findings included aneurysms, ectasia, arteriovenous fistulas, and anomalous origins. The 3D whole-heart acquisitions developed for use with 3 T are feasible for use in the assessment of CAAV.

The use of external mesh reinforcement to reduce intimal hyperplasia and preserve the structure of human saphenous veins.

The saphenous vein is the conduit of choice in bypass graft procedures. Haemodynamic factors play a major role in the development of intimal hyperplasia (IH), and subsequent bypass failure. To evaluate the potential protective effect of external reinforcement on such a failure, we developed an ex vivo model for the perfusion of segments of human saphenous veins under arterial shear stress. In veins submitted to pulsatile high pressure (mean pressure at 100 mmHg) for 3 or 7 days, the use of an external macroporous polyester mesh 1) prevented the dilatation of the vessel, 2) decreased the development of IH, 3) reduced the apoptosis of smooth muscle cells, and the subsequent fibrosis of the media layer, 4) prevented the remodelling of extracellular matrix through the up-regulation of matrix metalloproteinases (MMP-2, MMP-9) and plasminogen activator type I. The data show that, in an experimental ex vivo setting, an external scaffold decreases IH and maintains the integrity of veins exposed to arterial pressure, via increase in shear stress and decrease wall tension, that likely contribute to trigger selective molecular and cellular changes.

Imagerie des bronchiolites : sémiologie, pièges et valeur diagnostique.

Messages à retenir :Les signes scanographiques d'atteinte bronchiolaire d'origine infectieuse et/ou inflammatoire sont des petites opacités nodulaires et linéaires branchéescentrolobulaires (signe de l'arbre en bourgeons) et des opacités nodulaires centrolobulaires à limites floues .Les signes d'obstruction bronchiolaire sont des plages pulmonaires hypodenses et hypoperfusées, de distribution diffuse ou hétérogène, responsables alors d'unaspect de perfusion en mosaïque et d'un piégeage expiratoire.Les lésions diffuses de bronchiolite oblitérative doivent être différenciées de celles de l'emphysème panlobulaire sur l'absence de distorsion de l'architecturepulmonaire et d'opacités linéaires des bases.L'existence d'une dilatation des artères pulmonaires proximales est le meilleur signe de perfusion en mosaïque d'origine vasculaire , tandis que la présence dedilatations bronchiques est le meilleur signe de perfusion en mosaïque d'origine bronchiolaire . Résumé :La scanographie est l'imagerie de référence pour la détection, le diagnostic et l'évaluation de l'étendue des lésions bronchiolaires . Les petites opacitéscentrolobulaires, nodulaires et linéaires branchées (signe de l'arbre en bourgeons) sont caractéristiques de bronchiolite infectieuse. Leur détection est facilitée enprojection d'intensité maximum. Les opacités arrondies centrolobulaires à contours flous et de faible densité signent l'atteinte inflammatoire des paroisbronchiolaires et des alvéoles péribronchiolaires (bronchiolite respiratoire, bronchiolite d'hypersensibilité, bronchiolite folliculaire). Les hypodensités diffuses etles aspects de perfusion en mosaïque d'origine bronchiolaire avec piégeage sont l'expression d'une obstruction des bronchioles terminales par remodelage ,fibrose, ou lésions granulomateuses. Les causes bronchiolaires de perfusion en mosaïque sont la bronchiolite oblitérative , l'asthme, la pneumonie d'hypersensibilité et la bronchiolite obstructive des BPCO . La distribution et l'étendue des zones de piégeage sont mieux appréciées sur des acquisitionsdynamiques lors d'une manoeuvre expiratoire forcée que sur des acquisitions faites en apnée expiratoire. Les reformations épaisses en projection d'intensitéminimum à partir d'images acquises en expiration dynamique facilitent la détection et l'évaluation de la distribution et de l'étendue des lésions de piégeage , cetteévaluation pouvant être effectuée avec une très faible irradiation.

Obstructive pulmonary artery sarcoma.

A 68 year-old woman presented with increasing dyspnoea (NYHA II) and systolic murmur at auscultation. Echocardiography showed thickened pulmonary valve leaflets, a systolic prolapsing mass provoking severe pulmonary stenosis (peak systolic pulmonary pressure: 42 mmHg), no regurgitation, minimal right ventricular dilatation but normal ventricular function. CT scan showed a dense structure extending from the right ventricular outflow tract (RVOT) up to the pulmonary bifurcation infiltrating the pulmonary valve (PV).

Jauhatuspiirin ilmakierron optimointi

Luokittuminen erilaisine mekanismeineen aiheuttaa yleisesti ongelmia, kun on kysymyksessä kiintoaineen väliaikainenkin varastointi siilossa. Sitä voidaan vähentää kiintoaineiden, prosessin ja laitesuunnittelun muutoksilla. Tässä työssä tutkittiin mahdollisuuksia vähentää ilmeniitin luokittumista sen jauhatuspiirin ilmakiertoa optimoimalla. Suljetun kuivajauhatuspiirin keskeisimmäksi laitteeksi voitaisiin ajatella siinä oleva luokitin, joka voi olla esim. sykloni. Tässä piirissä tapahtuva kiintoaineen liikkuminen voidaan saada aikaiseksi esim. pneumaattisella kuljetuksella. Ilmeniitin jauhatus tapahtuu suljetussa kuivajauhatuspiirissä, jonka ajavana voimana on siinä oleva ilmakierto. Piirin oleellisia laitteita ovat kuulamylly, luokitin, erotussykloni ja pölykaappi sekä kiertoilma- ja poistoilmapuhaltimet. Ilmakierron optimointia varten suoritettiin kahden vastaavan jauhatuspiirin ainetasemääritykset. Lisäksi määritettiin yhden isomman piirin perustila. Jauhatuspiirien ainetasemäärityksissä määritettiin niiden massa- ja ilmavirrat sekä kiertokuorma ja luokittimen erotusterävyys, kuten myös ilmeniitin hiukkaskokojakaumat. Perustilamittauksissa määritettiin ainoastaan piirin ilmavirrat ja ilmeniitin hiukkaskokojakaumat. Optimointimittauksissa pienennettiin pikkumyllypiirin ilmamäärät vastaamaan kutakuinkin vastaavan toisen piirin määriä. Tällä yritettiin selvittää näiden toisiaan vastaavien piirien ilmamäärien ja varsinkin kiertokuormien eroavuutta. Tämä ilmamäärien pienentäminen ei tuottanut mainittavampaa muutosta piirin ainetaseisiin, joten voitaneen todeta, että piirin ilmamääriä pienentämällä saadaan aikaiseksi säästöjä, lähinnä kiertoilmapuhaltimen tehon alennuksen kautta.

Single breath-hold 3D measurement of left atrial volume using compressed sensing cardiovascular magnetic resonance and a non-model-based reconstruction approach.

BACKGROUND: Left atrial (LA) dilatation is associated with a large variety of cardiac diseases. Current cardiovascular magnetic resonance (CMR) strategies to measure LA volumes are based on multi-breath-hold multi-slice acquisitions, which are time-consuming and susceptible to misregistration. AIM: To develop a time-efficient single breath-hold 3D CMR acquisition and reconstruction method to precisely measure LA volumes and function. METHODS: A highly accelerated compressed-sensing multi-slice cine sequence (CS-cineCMR) was combined with a non-model-based 3D reconstruction method to measure LA volumes with high temporal and spatial resolution during a single breath-hold. This approach was validated in LA phantoms of different shapes and applied in 3 patients. In addition, the influence of slice orientations on accuracy was evaluated in the LA phantoms for the new approach in comparison with a conventional model-based biplane area-length reconstruction. As a reference in patients, a self-navigated high-resolution whole-heart 3D dataset (3D-HR-CMR) was acquired during mid-diastole to yield accurate LA volumes. RESULTS: Phantom studies. LA volumes were accurately measured by CS-cineCMR with a mean difference of -4.73 ± 1.75 ml (-8.67 ± 3.54%, r2 = 0.94). For the new method the calculated volumes were not significantly different when different orientations of the CS-cineCMR slices were applied to cover the LA phantoms. Long-axis "aligned" vs "not aligned" with the phantom long-axis yielded similar differences vs the reference volume (-4.87 ± 1.73 ml vs. -4.45 ± 1.97 ml, p = 0.67) and short-axis "perpendicular" vs. "not-perpendicular" with the LA long-axis (-4.72 ± 1.66 ml vs. -4.75 ± 2.13 ml; p = 0.98). The conventional bi-plane area-length method was susceptible for slice orientations (p = 0.0085 for the interaction of "slice orientation" and "reconstruction technique", 2-way ANOVA for repeated measures). To use the 3D-HR-CMR as the reference for LA volumes in patients, it was validated in the LA phantoms (mean difference: -1.37 ± 1.35 ml, -2.38 ± 2.44%, r2 = 0.97). Patient study: The CS-cineCMR LA volumes of the mid-diastolic frame matched closely with the reference LA volume (measured by 3D-HR-CMR) with a difference of -2.66 ± 6.5 ml (3.0% underestimation; true LA volumes: 63 ml, 62 ml, and 395 ml). Finally, a high intra- and inter-observer agreement for maximal and minimal LA volume measurement is also shown. CONCLUSIONS: The proposed method combines a highly accelerated single-breathhold compressed-sensing multi-slice CMR technique with a non-model-based 3D reconstruction to accurately and reproducibly measure LA volumes and function.