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Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1Agene in 8 individuals, including 3 members of the same family. Four cases fulfill stringent diagnostic criteria for OAVS, including asymmetric ear dysplasia, preauricular tags, mandibular asymmetry +/− vertebral malformations. Two patients also presented with kidney malformations. CHAF1Aencodes a subunit of CAF-1 (chromatin assembly factor-1), a heterotrimeric protein complex responsible for the deposition of newly synthesized histones H3-H4 onto the newly synthetized DNA strand during replication. The identification of loss-of-unction variants in CHAF1Ais consistent with the hypothesis of early developmental genes dysregulation driving OAVS and other associations recently lumped under the acronym Recurrent Constellations of Embryonic Malformations (RCEM).

Background and study aim: Zenker’s diverticulum is a rare disease that affects quality of life due to dysphagia and regurgitation. This condition can be treated by various surgical or endoscopic methods. Patients and method: Patients treated for Zenker’s diverticulum in three centers in the south of France between 2014 and 2019 were included. The primary objective was clinical efficacy. Secondary objectives were technical success, morbidities, recurrences, and need for a new procedure. Results: One hundred forty-four patients with a total of one hundred sixty-five procedures performed were included. A significant difference was found between the different groups in terms of clinical success (97% for open surgery versus 79% for rigid endoscopy versus 90% for flexible endoscopy, p= 0.009). Technical failure occurred more frequently in the rigid endoscopy group than in the flexible endoscopy and surgical groups (p= 0.014). Median procedure duration, median time to resumption of feeding, and hospital discharge were statistically shorter for endoscopies than for open surgery. On the other hand, more recurrences occurred in patients treated by endoscopy than those treated by surgery, and more reinterventions were required. Conclusion: Flexible endoscopy appears to be as effective and safe as open surgery in the treatment of Zenker’s diverticulum. Endoscopy allows a shorter hospital stay at the expense of a higher risk of recurrence of symptoms. It could be used as an alternative to open surgery for the treatment of Zenker’s diverticulum, especially in frail patients.

Compared with the MRI-derived proton density fat fraction, attenuation coefficient accuracy differed between US machines to stage liver steatosis, and some vendors showed excellent diagnostic performance.

Exercise responses in patients with chronic obstructive pulmonary disease (COPD) have been studied. The influence of work rate incremental rate was investigated. It was found that the work rate incremental rate has an effect on the Wpeak achieved. However, the peak values for VO(sub.2) VE, and HR and symptom scores stay comparable.

The article reviews the 2021 posthumous art exhibition "Le Salon Turc," which features works of German artist Ulay, being presented at the Stedelijk Museum in Amsterdam, Netherlands.

This section presents an excerpt from the monograph "Les gens d'Uterpan," by Pierre Bal-Blanc.

In the article, the author discusses the meaning presented by art objects in his view as art curator. Also cited are the viewpoint as an art object as presented by artist Marcel Broodthaers, the sculptures of Nicola L., the use by Michael Asher of people and empty spaces in his art, and the author's focus on the gaze in his curatorial works.

In the article, the author discusses COVID-19 pandemic issues in relation to art. Other topics include the effects of the pandemic to family relationships, the social distancing and lockdown measures by governments, the household dramas as presented by Enlightenment philosopher Denis Diderot, the realist painting during the period, and the works and theories of artist Bertold Brecht.

An extensive fine mapping and breakpoint study of 16 novel microduplications at Xq28 are presented. A two-step mechanism in which Xq28 is first partially inserted near the MECP locus and then followed by breakage-induced replication with strand invasion of the normal sister chromatid is observed, indicating, that the method by which copy number changes happens in areas with a complicated genomic architecture and can produce complex rearrangements.

The article reviews the retrospective exhibition "The Parthenon of Books," featuring the works of Argentinian artist Marta Minujin as part of her "La Caida de los mitos universales/The fall of universal myths," a series of large-scale public art projects using books that were banned during the military dictatorship.

The article looks at the work of artist Christopher D'Arcangelo and his political commitment to a shared, common culture independent of art-market speculation. Topics discussed include D'Arcangelo's unauthorized actions at major museums in the mid-to-late 1970s, his "Open Museum Proposal," and the exhibition of his work at the National Museum of Contemporary Art in Athens, Greece as part of documenta 14. Other artists mentioned include Etienne Baudet, Nicolas Poussin, and Sammy Baloji.

We report on the case of a 64-year-old man who underwent the SMART surgical technique using retromuscular biosynthetic mesh for parastomal hernia. This patient had a terminal colostomy and Bricker ileal conduit following pelvic exenteration for locally advanced low rectal adenocarcinoma. Since then, he had undergone a first median incisional hernia repair using intraperitoneal biosynthetic mesh, followed a year later by the onset of a symptomatic parastomal hernia at the stoma sites and next to the median laparotomy scar. It was thus decided to perform a double parastomal hernia repair using the SMART technique with retromuscular biosynthetic mesh.

The viewing angle emission properties of different HDR & WCG QLED and OLED TVs obtained with a Fourier optics instrument are used to compute there color gamut and color volume properties using standard color spaces and new ICtCp and Jzazbz color spaces. The advantages of the new color spaces is discussed.

Ulcerative proctitis is defined as a mucosal inflammation limited to the rectum. Ulcerative proctitis is responsible for distressing symptoms and alteration of patient quality of life. Effective treatment is important to prevent or delay proximal extension of the disease and to improve quality of life. Refractory ulcerative proctitis is defined as the failure of topical and oral 5-aminosalicylic acid and corticosteroids. Medical management of refractory ulcerative proctitis may be challenging as there is little evidence regarding drug efficacy in this clinical situation. Data are currently available for azathioprine, topical tacrolimus and anti-TNF monoclonal antibodies as rescue treatment for refractory ulcerative proctitis. Other biologics may be of benefit despite a lack of dedicated clinical trials. Ultimately, experimental therapies such as epidermal growth factor enemas, appendectomy or fecal transplantation may be tried before restorative proctocolectomy with J pouch anastomosis, which has demonstrated good results with regards to clinical remission and quality of life.

Laparoscopic surgery has evolved as an important field of surgery due to its clear benefits when compared to open laparotomy surgery. However, specific complications of laparoscopic surgery have been reported, of which the majority are complications associated with first entry to the abdominal cavity. The emergence of bariatric surgery, combined with the special considerations of the abdominal wall and cavity of obese patients, leads to seeking new modalities of access to the abdominal cavity in this specific population.Kii Fios First Entry Bladeless Trocar (Applied) is a new device that may allow surgeons to facilitate the creation of pneumoperitoneum. This prospective multicenter nonrandomized trial aims to evaluate the safety and efficacy of Kii Fios First Entry Bladeless Trocar in laparoscopic bariatric surgery. In the period between December 2013 and June 2014, 588 patients were included by 18 surgeons from several French hospitals to undergo laparoscopic surgery using Kii Fios First Entry Trocar as a first-entry trocar. The surgeons filled out a questionnaire assessing the safety and efficacy of the trocar for every patient. There were no mortality and no major complications. However, 11 cases (1.87%) of minor complications (liver and greater omentum injuries) were reported. The surgeons reported successful entry in less than 1 min for 70.58% of the cases. Kii Fios First Entry Trocar (Applied) is a safe and efficient method to establish first entry in laparoscopic bariatric surgery when all the recommendations are followed and respected.

Nous rapportons une nouvelle forme clinique de lymphangiectasies cutanées superficielles acquises (LCSA) survenant au cours de la décompensation oedémato-ascitique de cirrhose hépatique (CH).

La leishmaniose cutanée (LC) est endémique en Guyane avec 200 à 300 cas/an, sporadique mais concentrée sur la saison des pluies. Les épidémies sont rares et peu investiguées. Un signal épidémique a été émis le 15/03/2020 avec 15 cas suspects de leishmaniose cutanée appartenant au 3eRégiment étranger d’infanterie (REI) et 9eRégiment d’infanterie marine (RIMA), et ayant participé à un stage d’entraînement en forêt équatoriale (CEFE). Une investigation épidémique était alors réalisée.

The article focuses on artworks by artist Emilio Prini and mentions miscellaneous topics regarding the same. Topics discussed include the book "Arte Povera" regarding his exhibition at the Galleria La Bertesca in Genoa, Italy; depiction of partial and total silhouette in his photographs; the "Passi [Steps]" which depicts his steps with wooden elements; and the "Bolaffi Arte '70" catalogue by Prini.

In normal subjects, left ventricular (LV) dimensions have been shown to decrease over time, while wall thickness is increasing. The aim of this study was to investigate LV remodeling in a cohort of patients with type 2 diabetes mellitus during a 3-year follow-up period and its potential association with decreased longitudinal systolic strain (εL).

A complete analysis of the color-viewing-angle properties of different displays is presented herein using color-viewing-angle measurements made with a Fourier-optics system. The color gamut in the CIE u’v’ chromatic plane was computed for all the viewing angles. The introduction of the lightness using the L* a* b* color space allowed a more precise analysis of the emissive properties of each display. The displays can be directly compared using a common reference. The viewing-angle dependence can be analyzed in full detail using the on-axis values as reference. The gravity center behavior and area of the color hull were computed for a more precise evaluation and comparison.

We report on a 3yearold boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q dup20q13.2q13.2. The duplication was detected by comparative genomic hybridization CGH and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 → 20qter and highlights the relevance of CGH for the detection of such rearrangements. © 2008 WileyLiss, Inc.

Abstract: Background: Minimally invasive esophagectomy has the potential to minimize the morbidity of esophageal resection and is particularly suited to the transhiatal approach. This report details our experience with this technique and the lessons we have learned. Methods: A retrospective analysis of patients who underwent minimally invasive transhiatal esophagectomy was performed. Parameters assessed included patient demographics, tumor pathology, operative and postoperative course, and survival. Results: Eighteen patients underwent minimally invasive transhiatal esophagectomy [median age = 69 years (range = 36–79)]. Seventeen were operated on for cancer, including 13 adenocarcinomas and 4 squamous cell carcinomas (median histological stage = 2, range = 1–3), and 1 for high-grade dysplasia in Barrett’s. One patient had neoadjuvant chemotherapy. Two patients underwent nonemergency conversion to open surgery. The median duration of operation was 300 min (range = 180–450). All anastomoses were end-to-side hand-sewn. No patients received a red cell transfusion. The 30-day mortality was zero. Complications developed in 15 patients, including 7 respiratory and 10 recurrent laryngeal nerve injuries. There were two anastomotic leaks. Six patients developed stenosis requiring dilatation. The median length of stay was 15 days (range = 10–39). The median number of nodes harvested was 10 (range = 2–26). At a median follow-up of 13 months (range = 4–42), 13 patients were alive. Conclusions: Minimally invasive transhiatal esophagectomy is feasible in our unit, with acceptable mortality. The high rate of anastomotic stenosis has resulted in a change to a semimechanical, side-to-side isoperistaltic technique. The high rate of recurrent laryngeal nerve injuries has resulted in the avoidance of metal retractors at the tracheo-esophageal groove.

Background/Aims:Bacterial infections, specially Staphylococcus aureus (S. aureus)septicemia, remain a leading cause of death following liver transplantation. It has been demonstrated that nasal carriage of S. aureusis associated with invasive infections in patients undergoing hemodialysis and could be decreased by use of antibiotic nasal ointment. However, in cirrhotic patients, the frequency of nasal carriage is unknown. The aims of this study were to determine the prevalence of S. aureusnasal carriage in cirrhotic patients and to assess nosocomial contamination.

Surgicale describe a 29-year-old atient who developed acutte colitis limited to the sigmoid and left colon with features mimicking ischemic injury after a prolonged administration of trifluoroperazine and levomepromazine, two phenothiazines in association with haloperidol, another neuroleptic, and biperidene, an anticholinergic compound. The discontinuation of these drugs was followed by a prompt and complete recovery, and no other cause of acute colitis was found. The subsequent administration of sultopride, a neuroleptic from the benzamide family and then the readministration of haloperidol were well tolerated. No colonic disorder occurred for the following months. This case strongly supports the view that neuroleptic agents, in particular phenothiazines, may induce acute colitis and that haloperidol, a butyrophenone derivative, or sultopride, a benzamide-related neuroleptic, can be administered thereafter without recurrence of the disease.

The present study was undertaken to evaluate the ability of human hepatocytes to respond in culture to various mitotic agents including epidermal growth factor (EGF), transforming growth factor alpha (TGF-α), or serum from patients with fulminant hepatitis. Human hepatocytes were maintained in culture on collagen-coated plates in a chemically and hormonally defined serum-free medium at low cell density. Twelve hours after plating, cultures were treated with increasing amounts of EGF (1–100 ng/mL), TGF-α (1–100 ng/mL), or human serum (1%–10%) for 0–96 hours. Proliferative response was assessed by determining against time the rate of DNA synthesis by [3H]thymidine incorporation in DNA, the labeling index, the expression of cyclin A, the amount of DNA, and the number of cells. The rate of DNA synthesis reached a maximum after 48 hours of treatment with 20 ng/mL EGF, 40 ng/mL TGF-α, or 5%–10% of human serum (fulminant hepatitis); the average increase with respect to untreated cells was 4.35 times with EGF, 5.4 times with TGF-α, and 4–6 times with serum from patients with fulminant hepatitis. The maximum expression of cyclin A coincided with the maximum of DNA synthesis. After 72 hours of treatment with EGF or human serum (fulminant hepatitis), the amount of DNA increased by 75%–100% (P< 0.001) and the number of cells by 50% (P< 0.001). These results show that adult human hepatocytes respond to mitogens, as expected from previous studies on animal hepatocytes, and provide experimental basis for future investigations in the field of human liver regeneration.

Hepatocyte transplantation is a promising alternative to orthotopic liver transplantation in experimental animal models with genetic disorders of liver metabolism and liver failure. Fetal hepatocytes have several characteristics that make them potentially suitable as donor cells. In contrast to adult hepatocytes, fetal hepatocytes are thought to be highly proliferative, which may facilitate engraftment, expansion of transplanted cell population, and gene transfer requiring active DNA synthesis. The present study was undertaken to evaluate the proliferative capacity of fetal and adult rat hepatocytes under standardized culture conditions. Fetal (20 days of gestation) and adult hepatocytes were cultured in serum-free media at low densities and treated with growth factors. Proliferation was assessed by [3H]-thymidine incorporation and cell cycle analysis by flow cytometry. In nonstimulated cells, DNA synthesis at 4 h was about × 100 higher and after 10 days in culture ×20 higher in fetal compared to adult hepatocytes. When epidermal growth factor (EGF) was added, maximal DNA synthesis in fetal hepatocytes was seen at 48 h, whereas in adult hepatocytes at 72 h. For adult hepatocytes, the average increase compared to untreated cells was × 13.8 with EGF, ×18.5 with transforming growth factor alpha (TGF-α), and ×7.6 with hepatocyte growth factor (HGF). For fetal hepatocytes, the increase was twofold with either EGF, TGF-α or HGF. EGF-, TGF-α- and HGF-dependent DNA synthesis was inhibited by transfroming growth factor beta-1 (TGF-β1) in both fetal and adult hepatocyte cultures; this antiproliferative effect was significantly stronger in adult hepatocyte cultures. With cyclosporine, EGF-, TGF-α- and HGF-dependent DNA synthesis in fetal hepatocyte cultures decreased by 36–46%, whereas in adult hepatocytes by 19–27%. These results show that in contrast to adult hepatocytes, fetal hepatocytes have high spontaneous proliferative activity independently of growth factors and are relatively resistant to the inhibitory effect of TGF-β1. It was also found that cyclosporine suppresses proliferation of cultured fetal hepatocytes.

To gain insight into liver regenerationmechanisms in fulminant hepatic failure, we comparedgene expression of hepatocyte growth factor, itsreceptor c-met, c-myc, and albumin in human normal (4cases) and fulminant (14 cases) livers by reversetranscription-polymerase chain reaction. In normallivers, hepatocyte growth factor gene was not expressed,whereas c-met, c-myc and albumin genes were always expressed. In fulminant hepatic failure,hepatocyte growth factor gene was expressed in 1 of 14cases, c-met in none of 14 cases, c-myc in 10 of 14cases, and albumin in 3 of 14 cases. Byimmunofluorescence, c-met protein was revealed in normal but not infulminant hepatic failure liver tissue. Liver tissue isunlikely to account for high hepatocyte growth factorplasma levels typical for fulminant hepatic failure. Lack of its receptor (c-met)expression may explain a poor response of fulminanthepatic failure livers to exogenous hepatocyte growthfactor that normally promotes liver growth andregeneration.

We followed the course of cytomegalovirus (CMV) viremia in 65 patients treated with zidovudine for symptomatic HIV-1 infection. Blood samples were tested for the presence of CMV before initiation of treatment and every 3 months thereafter. 13 patients (20%) showed a positive CMV viremia at initiation of treatment. After 3 months of therapy, only 2 patients (3%) remained viremic. However, the frequency of CMV viremia increased from the 6th month of treatment and 28 (43%) of our patients showed a persistence of, or conversion to, positive viremia during the course of treatment. CMV viremia was associated with a decline in the patients' clinical state in 79% of the cases. In contrast, among the 37 patients who remained negative for CMV viremia, 73% did not show a progression of the HIV-associated disease. The results suggest that CMV viremia could be considered as a useful marker for HIV-associated disease and its progression as well as for the efficacy of therapy.

•What is already known on this subject?•Evaluation of the quality of training of fellows in endoscopy is essential and competence assessment has mainly been based on a minimum number of procedures needed. In 2016, a French national survey evaluating fellows’ perception of their training showed only 49% and 35% of last-year fellows had reached the threshold of recommended EGD and colonoscopies.•What are the new findings?•The mean number of weeks fully dedicated to endoscopy training and the mean number of procedures performed by fellows during their training did not differ between 2016 and 2020. However, the access to theoretical courses and simulation-based training was significantly higher in 2020 compared to 2016. The perception of skill acquisition has also gotten better in the last four years.•How might it impact on clinical practice in the foreseeable future?•These results argue in favor of a higher caseload during fellowship and suggests that theoretical and simulation-based training courses are helpful. A reform is likely warranted in this regard.

Les céphalées sont un motif fréquent de consultation. Peu de données existent pour le personnel militaire, souvent exposé au stress, à la fatigue, en situation de retour d’opérations extérieures (OPEX).

L’état de stress post-traumatique (ESPT) est un trouble d’adaptation survenant après exposition à un événement traumatique. À côté des plaintes psychiques, les patients peuvent exprimer des plaintes douloureuses, les céphalées étant peu étudiées.

We provide some theoretical extensions and a calibration protocol for our former dynamic optimal execution model. The Hawkes parameters and the propagator are estimated independently on financial data from stocks of the CAC40. Interestingly, the propagator exhibits a smoothly decaying form with one or two dominant time scales, but only so after a few seconds that the market needs to adjust after a large trade. Motivated by our estimation results, we derive the optimal execution strategy for a multi-exponential Hawkes kernel and backtest it on the data for round trips. We find that the strategy is profitable on average when trading at the midprice, which is in accordance with violated martingale conditions. However, in most cases, these profits vanish when we take bid–ask costs into account.

Aim: This study aimed to assess and compare outcomes of robotic inguinal hernia repair (RIHR) in patients under and over 70 years old, performed by a fellowship-trained robotic surgeon at a single institution. Methods: A retrospective analysis of patients undergoing robotic primary transabdominal preperitoneal inguinal hernia repair between 2020 and 2022 was conducted. Patients were categorized into two age groups: those under 70 years and 70 years and older. Data were collected through chart reviews with a mean follow-up of 30 days. Concurrently, a systematic review (SR) of relevant high-level literature was carried out. Results: Among the 37 patients studied, 75.7% (n = 28) were male, with a mean age of 64.8 years. Demographic features did not significantly differ based on age groups. Patients > 70 years had a higher incidence of reported complications (52.3% vs. 87.5%, p &lt; 0.461). There were no differences in operative time or length of stay between the groups. In the SR, only 23.7% (n = 9) of studies provided age-related conclusions. Three studies identified age over 70 as a risk factor for postoperative complications, while two studies suggested that RIHR is feasible and safe in patients aged 80 years and older. Conclusion: Patients over 70 years old demonstrated a higher incidence of complications compared to younger patients. However, current literature indicates that the robotic approach may offer a safe and minimally invasive option for inguinal hernia repair in both younger and older adults.

Hereditary hemochromatosis (HH) is a monogenic disorder, mainly due to the HFE C282Y homozygous mutation. This genotype is very widespread, with a prevalence of nearly 1 out of 200, among individuals of North European descent. However, despite great progress in our knowledge during the last decade, there are still debates about the true clinical prevalence and about the penetrance of the disorder, with penetrance estimates ranging from 50-60% to less than 1% depending on the adopted definition of penetrance.A registry of patients with HH (systematic record of patients with HH in a defined administrative area) was implemented in South France and a regional health network was developed to allow including all the diagnosed patients living in the area. C282Y homozygous patients were classified into stages according to the French National Authority for Health (HAS) (Brissot P, de Bels F. Hematology Am Soc Hematol Educ Program 2006:36-41). Patients stage 2 (biological iron overload), 3 and 4 (clinical stages, stage 4 including the most severely affected patients with live threatening conditions with impact on survival, such as diabetes, chronic liver disease, cirrhosis or cardiopathy) were included in the registry during a 6 year- period. A yearly follow-up was performed in order to update the registry (particularly removal of patients either deceased or who migrated from the region). Frequency of the C282Y genotypes in this region (homozygotes: 15.7 per 10,000) was known from previous studies, allowing to calculated the penetrance of the different stages.A total of 352 symptomatic C282Y homozygotes were identified, resulting in a prevalence of 1.83 per 10,000 subjects over 20 years [CI95%: 1.63-2.02]. The total calculated penetrance was 11.6%, slightly higher in males (13.8%) than in females (9.7%). A markedly lower penetrance at 5.3% was found in patients under 40, and a maximum at 22.9% in patients aged 50-54. Among 249 patients with full record, the majority (58%) was stage 3, 24% stage 2 and 18% stage 4. The penetrance was 2.8%, 7.0% and 2.2% for stages 2, 3 and 4 respectively. There was a higher proportion of males and excessive alcohol intake was more frequent in stage 4 than stage 2 and 3 combined.A regional genetic hemochromatosis registry with strict design and inclusion criteria is a useful tool for characterizing the disease history and the prevalence of the clinical manifestations using the proposed HAS classification into stages. The total penetrance of the C282Y homozygous genotype for the three stages with either biological or clinical iron overload was around 12%. Overall, the clinical penetrance (stage 3 and 4) was 9.2%, whereas the penetrance of the most severe manifestations (stage 4) was low, at only 2.2%, with a predominance of men. These results strengthen the need for new biological markers which can help define prognostic criteria in C282Y homozygous subjects diagnosed at an early stage.No relevant conflicts of interest to declare.