SARS-CoV-2 infection as cause of in-utero fetal death: regional multicenter cohort study.

OBJECTIVE: Placental infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to placental insufficiency and in-utero fetal death (IUFD). The objective of this study was to confirm and quantify the extent to which fetoplacental infection with SARS-CoV-2 is a cause of fetal death. METHODS: This was a multicenter retrospective cohort study of fetal deaths that underwent postmortem examination between January 2020 and January 2022 in three fetal pathology units in Paris, France. All cases of IUFD and termination of pregnancy (TOP) occurring in 31 maternity hospitals in the Paris region undergo detailed placental pathological examination in these units. Databases were searched for cases of IUFD and TOP. Cases with fetal malformation or cytogenetic abnormality were excluded to avoid bias. We included cases of IUFD with a placental or undetermined cause and cases of TOP in the context of severe intrauterine growth restriction (IUGR). Placentas were sent to a single virology unit for reverse-transcription polymerase chain reaction (RT-PCR) testing by a single laboratory technician blinded to the initial postmortem examination report. Our primary endpoint was the proportion of positive placental SARS-CoV-2 RT-PCR tests in the cohort. RESULTS: Among 147 722 deliveries occurring over 2 years, 788 postmortem examinations for IUFD and TOP for severe IUGR were recorded, of which 462 (58.6%) were included. A total of 13/462 (2.8%) placentas tested positive for SARS-CoV-2 by RT-PCR. Wild-type virus and alpha and delta variants were identified. All positive cases had histological lesions consistent with placental dysfunction. There was a strong correlation between SARS-CoV-2 placentitis and the presence of chronic intervillositis and/or massive fibrin deposits in the placenta. When both lesion types were present, the specificity and negative predictive value for the diagnosis of placental SARS-CoV-2 infection were 0.99 (95% CI, 0.98-1.00) and 0.96 (95% CI, 0.94-0.98), respectively. CONCLUSIONS: At the height of the SARS-CoV-2 pandemic, the cause of more than half of fetal deaths in the Paris area was determined by postmortem analysis to be of placental or undetermined origin. Of these cases, 2.8% were due to placental SARS-CoV-2 infection with a specific pattern of histological involvement. This study highlights the need for SARS-CoV-2 screening in stillbirth assessment. The impact of vaccination coverage remains to be established. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Protein expression of angiotensin-converting enzyme 2, a SARS-CoV-2-specific receptor, in fetal and placental tissues throughout gestation: new insight for perinatal counseling.

OBJECTIVE: Pregnant women can be infected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), yet the incidence of perinatal infection is low. We hypothesized that this could be related to low expression of the membrane receptor for SARS-CoV-2, angiotensin-converting enzyme 2 (ACE2), in the fetoplacental unit. We evaluated protein expression of ACE2 at various gestational ages in both placentae and fetal organs from pregnancies not infected with SARS-CoV-2. METHODS: In May 2020, using samples from a registered biobank, we performed immunohistochemical analysis for ACE2 in tissue samples from fetal organs and placentae from five cases of second- or third-trimester medical termination of pregnancy in healthy women (performed between 15 and 38 weeks' gestation), as well as a further two placentae, one from a 7-week spontaneous miscarriage in a non-infected woman and one from a symptomatic pregnant woman positive for SARS-CoV-2 delivered by Cesarean section at 34 weeks. Samples were paraffin-embedded and organ tissues included kidney, brain, lung, intestinal tract, heart and testis. Matching tissues (kidney, intestinal tract, lung and testis) from autopsies of four 8-year-old children were tested as controls. Tissue sections were incubated with rabbit monoclonal anti-ACE2, and protein expression of ACE2 was detected by immunohistochemistry. RESULTS: ACE2 expression was detected in fetal kidney, rectum and ileum samples from 15 weeks onwards and in the pediatric controls. It was barely detectable in fetal lung samples at 15 + 5 weeks' gestation and not detectable thereafter, and, in the pediatric controls, ACE2 was detectable only in type-2 pneumocytes. No ACE2 expression was found in the cerebral ependymal or parenchymal tissues or in cardiac tissues. ACE2 was expressed in placental syncytiotrophoblast and cytotrophoblast samples, but not in the amnion, from 7 weeks onwards. The intensity and distribution of ACE2 staining in the placenta from the symptomatic SARS-CoV-2 woman was similar to that in the non-infected placentae. CONCLUSIONS: Marked placental expression of ACE2 provides a rationale for vertical transmission at the cellular level. Absence of ACE2 expression in the fetal brain and heart is reassuring regarding the risk of congenital malformation. Clinical follow-up of infected pregnant women and their children is needed to validate these observations. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Financial burden of orthopaedic gunshot-related injury management at a major trauma centre.

BACKGROUND: Violence and injuries are a significant global public health concern, and have a substantial emotional, physical and economic impact on society. In South Africa (SA), the Western Cape Injury Mortality Profile shows that homicides increased from 38 deaths per 100 000 in 2010 to 52 deaths per 100 000 in 2016. This increase is directly related to an increase in firearm-related homicides, which doubled from 2010 to 2016. Previous research estimated the average cost per gunshot wound (GSW)-related orthopaedic patient at USD2 940. GSW-related patient numbers as well as treatment costs have escalated exponentially over the past few years. OBJECTIVES: To calculate the financial costs involved in managing gunshot-related orthopaedic injuries both surgically and non-surgically at a tertiary centre in SA. METHODS: After ethics approval, a retrospective review of all GSW patients seen in the emergency unit at Tygerberg Hospital in 2017 was undertaken. Patient records yielded data on the following parameters: injury site and characteristics, imaging modalities, orthopaedic management, hospital admission and duration of hospitalisation, theatre episodes, orthopaedic implants and blood products administered. Cost analysis was performed using this information. RESULTS: A total of 389 patients (360 male and 29 female), average age (range, standard deviation) 28 (3 - 69, 9.50) years, were treated during the study period. Patient records identified a total of 449 orthopaedic injuries. A total of 187 patients were admitted, with 175 requiring surgical fixation. The conservatively calculated cost of managing this patient group was ZAR10 227 503. The average management cost per patient was ZAR26 292, with an average of ZAR46 670 per case requiring surgical management and ZAR8 810 for non-surgical cases (the average USD-ZAR exchange rate in 2017 was USD1-ZAR13.30). CONCLUSIONS: The total cost of managing 389 patients with gunshot-related orthopaedic injuries at a tertiary hospital was ZAR10 227 503. Improved understanding of these costs will help the healthcare system better prioritise orthopaedic trauma funding and training and highlights the urgent need for cost-saving measures, specifically primary prevention initiatives.

The epidemiology and orthopaedic burden of civilian gunshot injuries over a four-year period at a level one trauma unit in Cape Town, South Africa.

PURPOSE: The aim of this study was to quantify the overall burden of orthopaedic gunshot-related injuries at our institution over a four year period. Secondary aims included identifying complications from gunshot-related injuries and the additional burden it places on healthcare services. METHODS: A retrospective review was conducted on all patients with gunshot injuries presenting to our hospital's trauma unit between January 2014 and December 2017. Patient data was recorded, and demographic data, number and type of implants, blood products used, duration of hospital admission, duration of ICU admission, radiological studies performed, and prevalence of complications were analysed. RESULTS: A total of 1449 patients with a mean age of 28.2 ± 9.7 years (range 2.0-71.0) were included in this study. The majority of these gunshot-related orthopaedic injuries were sustained to the lower extremities and were treated non-operatively. The median duration of hospital stay was 7.0 (IQR 4.0-12.0). The most common complications identified were nerve injury (8.3%), vascular injury (6.5%), fracture-related infection (3.2%), non-union (3.1%), and compartment syndrome (1.6%). The total cost of care was ZAR 53,568,537 (USD 4,320,043) with an average cost per patient of ZAR 37,031 (USD 2986). CONCLUSION: This study highlighted the burden of gunshot injuries presenting to our hospital and the strain it places on its healthcare resources. The prevalence of complications was comparable to international studies on the subject. With improved understanding of this burden, more healthcare resources can be allocated to this problem and better prevention strategies can be planned.

[Early diagnosis of omphalocele: Prognostic value of the herniated viscera for associated anomalies]. / Omphalocèle au premier trimestre : valeur pronostique du contenu extériorisé pour le risque d'anomalie associée.

OBJECTIVES: Prognosis of infants with omphalocele depends on many factors, including associated anomalies. "Small" omphaloceles are believed to have more often WB syndrome, but so far no prenatal criterion has been demonstrated to predict associated anomalies. The aim of this study was to assess the outcomes of omphaloceles with prenatal diagnosis, and to seek for any correlation between the herniated viscera in the first trimester and the risk of associated anomalies. METHODS: We conducted a retrospective study at the Necker Enfants Malades Hospital between 2008 and 2018. Pregnancy outcomes and post natal data were collected and compared to the omphalocele content in the first trimester. RESULTS: One hundred and ninety-one women with antenatal diagnosis of omphalocele were included. Twenty-eight percent were isolated at birth, 32% had a polymalformative syndrome with chromosomal anomaly, 13% had a polymalformative syndrome without genetic anomaly, 9% had a Wiedemann-Beckwith syndrome, 7% had an association with cardiopathy, 6% had a limb body wall complex, 3% had OEIS complex and one case had a Cantrell pentalogy. The presence of the liver in the omphalocele during the first trimester was a predictive factor of heart disease (85.7% vs 48.6% P=0.01). The presence of bowel in the omphalocele during the first trimester was a predictor of chromosomal abnormalities (69.6% vs 37.2% P<0.001). Omphalocele content in the first trimester was not predictive of Wiedemann-Beckwith syndrome. CONCLUSION: Ultrasound analysis in the first trimester of omphalocele content is a valuable clue for prenatal counseling and diagnosis of associated abnormalities.

Evaluation of patients' needs to design and assess a patient education program in cancer pain.

Purpose: Patient education constitutes a relevant strategy to improve pain management. In the field of therapeutic patient education (TPE), we aimed 1) to assess pain impact in cancer patients, 2) to identify patients' educative needs in pain management, and 3) to refine research criteria for its future evaluation. Patients and methods: Pain intensity, relief and interference were assessed in 75 cancer patients with unbalanced background pain. Self-assessment questionnaire evaluated i) patients' pain management and ii) their knowledge and needs in TPE. Results: Most patients experienced pain for more than 6 months and 41.6% reported adequate pain relief. Understanding pain and pain management were major patients' preferences (>58%). Most patients declared they knew their pain treatments, but fewer than half of them were able to name them. However, education concerning pain treatment was considered as essential in <30% of patients. Almost all patients (97.1%) stated pain education as beneficial, with a preference for individualized sessions (41.2%). In addition, the assessment criteria for its future evaluation were refined. Conclusion: Targeted population mainly concerned patients with persistent pain. Only half of patients reported pain relief despite antalgics. Patient education was declared as beneficial for almost all participants. Practice implications: Tailoring a pain TPE on patients' needs has the potential to help them to optimally manage their pain daily.

Factores de riesgo de mortalidad de los pacientes ancianos en cuidados intensivos sin limitación del esfuerzo de tratamiento / Mortality risk factors in elderly patients in intensive care without limitation of therapeutic effort

OBJETIVO: Determinar factores pronóstico para mortalidad en los pacientes ancianos que se internan en unidades de cuidados intensivos (UCI) por enfermedad crítica aguda. DISEÑO: Estudio de cohorte prospectiva. Ámbito: Unidad de Terapia Intensiva polivalente en Hospital Universitario en Argentina. Pacientes o participantes: Se incluyeron 249 pacientes mayores de 65años que ingresaron en forma consecutiva a la UCI con requerimiento de asistencia ventilatoria mecánica durante más de 48h entre enero de 2011 y diciembre de 2012. Fueron excluidos pacientes con enfermedad neurológica degenerativa, limitación de esfuerzos terapéuticos y ventilación mecánica crónica. Variables de interés principales: Se registró la mortalidad hospitalaria, la carga de comorbilidad (índice de Charlson), APACHEII y estado previo a la enfermedad aguda: estado nutricional (valoración global subjetiva), funcionalidad (actividades de la vida diaria [AVD] o índice de Katz y Barthel), habilidades cognitivas (Short Informant Questionnaire on Cognitive Decline in the Elderly [S_IQCODE]) y calidad de vida (EQ-5D). RESULTADOS: La mortalidad hospitalaria fue del 52%. Por regresión logística, y después de ajustar por APACHEII y edad, resultaron variables independientes asociadas a mortalidad el sexo masculino, con un odds ratio (OR) de 2,46 (intervalo de confianza [IC] del 95%: 1,37-4,42), la desnutrición moderada (OR: 2,07, IC95%: 1,09-3,94), la desnutrición severa (OR: 2,20, IC95%: 1,06-4,59) y un AVD<6 (OR: 2,35, IC95%: 1,16-4,75). CONCLUSIONES: En nuestro estudio, la edad cronológica no resultó asociada a la mortalidad hospitalaria. Sin embargo, la pérdida de la independencia funcional (evaluada por AVD) y la desnutrición mostraron ser factores pronóstico. Conocer estos datos desde el ingreso por enfermedad crítica sería de utilidad a la hora de tomar decisiones relevantes respecto a la intensidad del tratamiento a instituir

OUTCOME: To determine mortality prognostic factors in elderly patients who are admitted to intensive care units (ICUs) due to acute critical illness. Design: A prospective cohort study was carried out. Setting: A polyvalent Intensive Care Unit at a University Hospital in Argentina. Patients or participants: We included 249 patients over 65years of age who were consecutively admitted to the ICU and required mechanical ventilation for more than 48hours, between January 2011 and December 2012. Patients with degenerative neurological disease, limitation of therapeutic effort or on chronic mechanical ventilation were excluded. Principal variables of interest: In-hospital mortality, comorbidity (Charlson index), APACHEII score, and pre-acute illness status were recorded: nutritional status (subjective global assessment), functionality (activities of daily living [ADL] and Barthel index), cognitive abilities (Short Reporting Questionnaire on Cognitive Decline in the Elderly [S_IQCODE]) and quality of life (EQ-5D). Results: The in-hospital mortality rate was 52%. Logistic regression analysis, after adjusting for APACHEII score and age, identified the following independent variables associated to mortality: male gender (OR: 2.46, 95%CI: 1.37-4.42), moderate malnutrition (OR: 2.07, 95%CI: 1.09-3.94), severe malnutrition (OR: 2.20, 95%CI: 1.06-4.59), and ADL<6 (OR: 2.35, 95%CI: 1.16-4.75). Conclusions: In our study, chronological age was not associated to in-hospital mortality. However, loss of functional independence (assessed by ADL) and malnourishment were shown to be strong prognostic factors; knowing these baseline characteristics from ICU admission would be useful when making decisions regarding the intensity of treatment

Mortality risk factors in elderly patients in intensive care without limitation of therapeutic effort. / Factores de riesgo de mortalidad de los pacientes ancianos en cuidados intensivos sin limitación del esfuerzo de tratamiento.

OUTCOME: To determine mortality prognostic factors in elderly patients who are admitted to intensive care units (ICUs) due to acute critical illness. DESIGN: A prospective cohort study was carried out. SETTING: A polyvalent Intensive Care Unit at a University Hospital in Argentina. PATIENTS OR PARTICIPANTS: We included 249 patients over 65years of age who were consecutively admitted to the ICU and required mechanical ventilation for more than 48hours, between January 2011 and December 2012. Patients with degenerative neurological disease, limitation of therapeutic effort or on chronic mechanical ventilation were excluded. PRINCIPAL VARIABLES OF INTEREST: In-hospital mortality, comorbidity (Charlson index), APACHEII score, and pre-acute illness status were recorded: nutritional status (subjective global assessment), functionality (activities of daily living [ADL] and Barthel index), cognitive abilities (Short Reporting Questionnaire on Cognitive Decline in the Elderly [S_IQCODE]) and quality of life (EQ-5D). RESULTS: The in-hospital mortality rate was 52%. Logistic regression analysis, after adjusting for APACHEII score and age, identified the following independent variables associated to mortality: male gender (OR: 2.46, 95%CI: 1.37-4.42), moderate malnutrition (OR: 2.07, 95%CI: 1.09-3.94), severe malnutrition (OR: 2.20, 95%CI: 1.06-4.59), and ADL<6 (OR: 2.35, 95%CI: 1.16-4.75). CONCLUSIONS: In our study, chronological age was not associated to in-hospital mortality. However, loss of functional independence (assessed by ADL) and malnourishment were shown to be strong prognostic factors; knowing these baseline characteristics from ICU admission would be useful when making decisions regarding the intensity of treatment.

MGIS: managing banana (Musa spp.) genetic resources information and high-throughput genotyping data.

Database URL: https://www.crop-diversity.org/mgis/.

Prevalence of obstructive sleep apnoea syndrome following oropharyngeal cancer treatment: A prospective cohort study.

OBJECTIVES: To evaluate the prevalence of obstructive sleep apnoea syndrome (OSAS) in a population of patients treated for an advanced oropharyngeal cancer (AJCC Stage III or IV), depending on treatment strategy, and to evaluate its impact on quality of life. DESIGN: Prospective cohort study. SETTING: University Teaching Hospital of La Conception, Marseille, France. PARTICIPANTS: Fifty-one disease-free patients were included. Forty-one patients received a combined chemoradiotherapy, while 10 patients were treated by surgery followed by chemoradiotherapy. MAIN OUTCOME MEASURES: Every patient underwent a formal sleep consultation and was asked to complete the Epworth Sleepiness Scale and EORTC QLQ C-30 and the EORTC H&N 35 questionnaires. A home overnight respiratory polygraphy was performed in every subject. RESULTS: The mean time between the end of cancer treatment and the OSAS analysis was 54.04 months [20; 84]. An OSAS was found in 25.49% of our patients. There was no significant difference between patients treated with either surgery (30%) or CRT (24.39%), P=.79. The EORTC QLQ C-30 questionnaire showed a significant difference between positive and negative OSAS groups in the Global Health Status Scale (50.64 vs 67.11, P=.02) and in the fatigue item (35.04 vs 17.25, P=.03). CONCLUSIONS: Our population with advanced oropharyngeal cancer, whatever the treatment strategy it may be, was at risk of developing OSAS with negative impact on quality of life. A routine screening and treatment of OSAS seems necessary to improve the quality of life of patients treated for advanced oropharyngeal cancer.

Habitat selection by marine larvae in changing chemical environments.

The replenishment and persistence of marine species is contingent on dispersing larvae locating suitable habitat and surviving to a reproductive stage. Pelagic larvae rely on environmental cues to make behavioural decisions with chemical information being important for habitat selection at settlement. We explored the sensory world of crustaceans and fishes focusing on the impact anthropogenic alterations (ocean acidification, red soil, pesticide) have on conspecific chemical signals used by larvae for habitat selection. Crustacean (Stenopus hispidus) and fish (Chromis viridis) larvae recognized their conspecifics via chemical signals under control conditions. In the presence of acidified water, red soil or pesticide, the ability of larvae to chemically recognize conspecific cues was altered. Our study highlights that recruitment potential on coral reefs may decrease due to anthropogenic stressors. If so, populations of fishes and crustaceans will continue their rapid decline; larval recruitment will not replace and sustain the adult populations on degraded reefs.

DArT whole genome profiling provides insights on the evolution and taxonomy of edible Banana (Musa spp.).

BACKGROUND AND AIMS: Dessert and cooking bananas are vegetatively propagated crops of great importance for both the subsistence and the livelihood of people in developing countries. A wide diversity of diploid and triploid cultivars including AA, AB, AS, AT, AAA, AAB, ABB, AAS and AAT genomic constitutions exists. Within each of this genome groups, cultivars are classified into subgroups that are reported to correspond to varieties clonally derived from each other after a single sexual event. The number of those founding events at the basis of the diversity of bananas is a matter of debate. METHODS: We analysed a large panel of 575 accessions, 94 wild relatives and 481 cultivated accessions belonging to the section Musa with a set of 498 DArT markers previously developed. KEY RESULTS: DArT appeared successful and accurate to describe Musa diversity and help in the resolution of cultivated banana genome constitution and taxonomy, and highlighted discrepancies in the acknowledged classification of some accessions. This study also argues for at least two centres of domestication corresponding to South-East Asia and New Guinea, respectively. Banana domestication in New Guinea probably followed different schemes that those previously reported where hybridization underpins the emergence of edible banana. In addition, our results suggest that not all wild ancestors of bananas are known, especially in M. acuminata subspecies. We also estimate the extent of the two consecutive bottlenecks in edible bananas by evaluating the number of sexual founding events underlying our sets of edible diploids and triploids, respectively. CONCLUSIONS: The attribution of clone identity to each sample of the sets allowed the detection of subgroups represented by several sets of clones. Although morphological characterization of some of the accessions is needed to correct potentially erroneous classifications, some of the subgroups seem polyclonal.

First description of the neuro-anatomy of a larval coral reef fish Amphiprion ocellaris.

The present study described the neuro-anatomy of a larval coral reef fish Amphiprion ocellaris and hypothesized that morphological changes during the transition from the oceanic environment to a reef environment (i.e. recruitment) have the potential to be driven by changes to environmental conditions and associated changes to cognitive requirements. Quantitative comparisons were made of the relative development of three specific brain areas (telencephalon, mesencephalon and cerebellum) between 6 days post-hatch (dph) larvae (oceanic phase) and 11 dph (at reef recruitment). The results showed that 6 dph larvae had at least two larger structures (telencephalon and mesencephalon) than 11 dph larvae, while the size of cerebellum remained identical. These results suggest that the structure and organization of the brain may reflect the cognitive demands at every stage of development. This study initiates analysis of the relationship between behavioural ecology and neuroscience in coral reef fishes.

[How to assess the neutral position of the fetus for the crown-rump length measurement at the nuchal translucency scan]. / Comment évaluer la flexion de l'embryon lors de la mesure de la longueur cranio-caudale.

OBJECTIVES: The objective of this study was to establish a simple and reproducible method for the assessment of the fetal head position when measuring crown-rump length (CRL) at the nuchal translucency scan. METHODS: Two observers conducted a retrospective analysis of a consecutive series of 570 images of CRL collected by the French College of Fetal Echography (CFEF) national practice assessment program for the first-trimester scan. The images were deemed hyper-flexed if no fluid was visible between the chin and the chest of the fetus. The images were deemed hyper-extended if the angle between the palate and the CRL line was 90° or more. The images were deemed neutral if no hyper-extension nor hyper-flexion was observed. RESULTS: The proportion of agreement for a non-neutral position of the fetal head was 91.3% (kappa=0.80, 95% CI [0.75 to 0.86]). Images with a non-neutral position corresponded to poor CRL quality images according to the CFEF score (relative risk=4.2, 95% CI [2.9 to 6.1] for one observer and 4.9, 95% CI [3.3 to 7.2] for the other observer). Proportions of agreement for the hyper-flexion and for the hyper-extension were 94.6% (kappa=0.80, 95% CI [0.72 to 0.87]) and 96.8% (kappa=0.81, 95% CI [0.72 to 0.90]), respectively. No additional lines were drawn on the ultrasound images during the evaluation process. CONCLUSIONS: The proposed method for evaluating the extent to which the fetal head has a non-neutral position at measurement of the CRL appears both simple and reproducible.

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

CONTEXT: Within the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations. OBJECTIVES: To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects. DESIGN: A cross-sectional study was conducted in a cohort of patients. SETTING: The French neonatal screening program was used for recruiting patients. PATIENTS: A total of 118 patients with CH, including 45 with familial and 73 with sporadic diseases, were included in this study. The thyroid gland was normal in 23 patients had hypoplasia, 25 had hemithyroid agenesis, 21 had athyreosis, and 21 had ectopy. RESULTS: We found four different PAX8 mutations (p.R31C, p.R31H, p.R108X, and p.I47T) in ten patients (six patients with CH and four family members), two with sporadic and eight with familial diseases. Imaging studies performed in the index cases showed ectopic thyroid gland (n=2), hypoplasia (n=2), eutopic lobar asymmetry (n=1), and eutopic gland compatible with dyshormonogenesis (n=1). The previously reported p.R31C and the novel p.I47T PAX8 mutations are devoid of activity. CONCLUSION: Four different PAX8 mutations were detected in six index patients with CH (ten total subjects). The p.R31C, p.R31H, and p.R108X mutations have been reported. The novel p.I47T PAX8 mutation presented loss of function leading to CH. Thyroid ectopy was observed in two cases of PAX8 (p.R31H) mutation, a finding that has not been reported previously. We observed a high inter-individual and intra-familial variability of the phenotype in PAX8 mutations, underlining that population genetic studies for CH should include patients with various clinical presentations.

Autochthonous case of dengue in France, October 2013.

In October 2013, autochthonous dengue fever was diagnosed in a laboratory technician in Bouches-du-Rhone, southern France, a department colonised by Aedes albopictus since 2010. After ruling out occupational contamination, we identified the likely chain of local vector-borne transmission from which the autochthonous case arose. Though limited, this second occurrence of autochthonous dengue transmission in France highlights that efforts should be continued to rapidly detect dengue virus introduction and prevent its further dissemination in France.

Intraoperative factors affecting renal outcome after open repair of suprarenal aortic aneurysms.

BACKGROUND: The open repair of suprarenal aortic aneurysm requires supraceliac aortic cross-clamping and separate renal artery reconstruction. The aim of this study was to determine the intraoperative factors responsible for postoperative renal dysfunction. METHODS: Between January 1, 2000 and May 31, 2010, 54 suprarenal aortic aneurysms were repaired at our center (mean age of the patients, 66 ± 8 years). All cases were operated through a left retroperitoneal approach without left renal vein division. Acute kidney injury was defined as a 50% increase of serum creatinine level from the preoperative baseline concentration. Perioperative variables were tested to be correlated with renal dysfunction (Spearman rank). RESULTS: The ischemic time was 28 ± 8 minutes for the mesentery and the right kidney and 63 ± 16 minutes for the left kidney. The total aortic clamping time was 115 ± 27 minutes. The volume of autologous transfusion was 957 ± 479 mL, allogeneic transfusion was 936 ± 473 mL, and colloids and crystalloids was 7,194 ± 2,201 mL. Two patients died. Acute kidney injury occurred in 15 patients, with complete recovery at discharge. The autologous blood transfusion volume (P = 0.009, r = 0.36) and the total aortic clamping time (P = 0.04, r = 0.30) were correlated with renal dysfunction. CONCLUSION: Postoperative renal dysfunction based on the variation in creatinine serum level was transient and requires further investigation using sensitive biomarkers for tubular ischemia.

Foundation characteristics of edible Musa triploids revealed from allelic distribution of SSR markers.

BACKGROUND AND AIMS: The production of triploid banana and plantain (Musa spp.) cultivars with improved characteristics (e.g. greater disease resistance or higher yield), while still preserving the main features of current popular cultivars (e.g. taste and cooking quality), remains a major challenge for Musa breeders. In this regard, breeders require a sound knowledge of the lineage of the current sterile triploid cultivars, to select diploid parents that are able to transmit desirable traits, together with a breeding strategy ensuring final triploidization and sterility. Highly polymorphic single sequence repeats (SSRs) are valuable markers for investigating phylogenetic relationships. METHODS: Here, the allelic distribution of each of 22 SSR loci across 561 Musa accessions is analysed. KEY RESULTS AND CONCLUSIONS: We determine the closest diploid progenitors of the triploid 'Cavendish' and 'Gros Michel' subgroups, valuable information for breeding programmes. Nevertheless, in establishing the likely monoclonal origin of the main edible triploid banana subgroups (i.e. 'Cavendish', 'Plantain' and 'Mutika-Lujugira'), we postulated that the huge phenotypic diversity observed within these subgroups did not result from gamete recombination, but rather from epigenetic regulations. This emphasizes the need to investigate the regulatory mechanisms of genome expression on a unique model in the plant kingdom. We also propose experimental standards to compare additional and independent genotyping data for reference.