Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity.

Hallermann-Streiff syndrome (HSS) is a rare congenital syndrome with different anomalies including midface hypoplasia, beak nose and micrognathia. The upper airways narrowness can lead to severe respiratory complications such as obstructive sleep apnoea syndrome (OSAS), particularly in infancy. The management of these severe OSAS is difficult and poorly documented in literature. We report the case of an infant with HSS complicated by severe and early OSAS successfully managed with non-invasive ventilation (NIV), provide an overview of respiratory morbidities and discuss treatment options for HSS-related OSAS.

Synthesising existing research on complicated grief in intellectual disability: findings from a systematic review.

BACKGROUND: Complicated grief has been identified as a phenomenon in the general population, and there is an increasing body of research investigating complicated grief in people with intellectual disability. The aim of this study is to synthesise this existing knowledge from research published between 1999 and 2022. METHODS: A structured systematic review using PRISMA guidelines was conducted, which searched three commonly used databases (Medline, PsycINFO and CINAHL) for research on the topic of bereavement and intellectual disability. The articles identified in this search were screened to identify those that addressed the issue of 'complicated grief', with all abstracts and subsequent full texts reviewed by two researchers. RESULTS: In total, 179 abstracts were initially identified, with 34 articles eligible for full text screening and 18 papers reaching criteria for inclusion. Data relating to the studies' objectives were extracted under the headings of definition, defining principles, signs and symptoms, risk factors and treatments for complicated grief in intellectual disability. Thematic analysis of the extracted data was performed to identify key themes. CONCLUSIONS: This review highlights that people with intellectual disability are likely to experience complicated grief reactions and that complicated grief is both underestimated and a clinically significant condition for people with intellectual disability. Future research should work to clarify diagnostic criteria and identify appropriate interventions.

Contrast-enhanced CT texture analysis for the prediction of delayed graft function following kidney transplantation from cadaveric donors.

OBJECTIVE: Delayed graft function (DGF) is a common complication after transplantation of deceased donor kidneys. The aim of this study was to investigate the feasibility of using computed tomography texture analysis (CT-TA) of the donor kidney to predict delayed graft function (DGF) following kidney transplantation from cadaveric donors. MATERIALS AND METHODS: We made a retrospective review of all consecutive DBD and DCD kidney donors admitted to our institution and their corresponding KTRs between December 2014 and January 2019. We extracted 15 image features from unenhanced CT and contrast-enhanced CT corresponding to first order and second order Haralick textural features. Predictors of DGF were evaluated by univariable and multivariable analysis. Receiver operating characteristic (ROC) analysis was performed and the area under the ROC curve (AUC) to predict DGF was calculated for the predictors. RESULTS: A total of 115 patients were included in the study. DGF occurred in 15 patients (13%). Recipient body mass index (BMI) (P=0.003) and Skewness (P=0.05) represented independent predictors in the multivariate model. The combination of both clinical and textural features in a bivariate model reached a ROC-AUC of 0.79 (95% CI: 0.64-0.94) in predicting the probability of DGF. CONCLUSION: Results from this preliminary study suggest that CT texture analysis might be a promising quantitative imaging tool to help physician predict DFG after kidney transplantation from cadaveric donors. LEVEL OF EVIDENCE: 4/5.

Healthcare utilisation and unmet health needs in children with intellectual disability: a propensity score matching approach using longitudinal cohort data.

BACKGROUND: Health disparities for children with intellectual disabilities can be challenging to measure due to many other factors that can impact health and healthcare use. The aim of the current study was to use longitudinal cohort data to compare children with intellectual disability (ID) in Ireland between 2006 and 2014 on healthcare utilisation and unmet need, at ages 9 and 13, using a propensity score matching (PSM) approach. METHODS: Using data from the Growing up in Ireland study, PSM was used to identify an appropriate control sample to compare with a sample of children with ID (n = 124). Participants were matched on variables that are known to influence healthcare utilisation to reduce the impact of confounding variables between groups so that differences between the groups can be estimated. Logistic regression was used to estimate effects at ages 9 and 13. RESULTS: Children with ID were no more likely to have visited a general practitioner or emergency department in the past 12 months than children without ID. They did have a greater likelihood of visiting a doctor in a hospital in the past 12 months and of having an overnight stay in hospital by age 9. Primary caregivers of children with ID were more likely to report unmet health needs at ages 9 and 13. CONCLUSIONS: This approach is a novel means of comparing healthcare use in this population by balancing the impact of other factors that may result in inequities, to which children with ID may be more vulnerable.

A pilot study about the development and characterization of a Roux en Y gastric bypass model in obese Yucatan minipigs.

Performing the Roux-en-Y gastric bypass (RYGBP) in obese Yucatan minipigs provides an opportunity to explore the mechanisms behind the effects of this surgery in controlled environmental and nutritional conditions. We hypothesized that RYGBP in these minipigs would induce changes at multiple levels, as in obese humans. We sought to characterize RYGBP in a diet-induced obese minipig model, compared with a pair-fed sham group. After inducing obesity with an ad libitum high-fat/high-sugar diet, we performed RYGBP (n = 7) or sham surgery (n = 6). Oral glucose tolerance tests (OGTT) were performed before and after surgery. Histological analyses were conducted to compare the alimentary limb at sacrifice with tissue sampled during RYGBP surgery. One death occurred in the RYGBP group at postoperative day (POD) 3. Before sacrifice, weight loss was the same across groups. GLP-1 secretion (OGTT) was significantly higher at 15, 30 and 60 min at POD 7, and at 30 and 60 min at POD 30 in the RYGBP group. Incremental insulin area under the curve increased significantly after RYGBP (p = 0.02). RYGBP induced extensive remodeling of the alimentary limb. Results show that RYGBP can be safely performed in obese minipigs, and changes mimic those observed in humans.

Consequences of adolescent alcohol use on adult hippocampal neurogenesis and hippocampal integrity.

Alcohol is the most commonly used drug among adolescents. Their decreased sensitivity to self-regulating cues to stop drinking coincides with an enhanced vulnerability to negative outcomes of excessive drinking. In adolescents, the hippocampus is one brain region that is particularly susceptible to alcohol-induced neurodegeneration. While cell death is causal, alcohol effects on adult neurogenesis also impact hippocampal structure and function. This review describes what little is known about adolescent-specific effects of alcohol on adult neurogenesis and its relationship to hippocampal integrity. For example, alcohol intoxication inhibits neurogenesis persistently in adolescents but produces aberrant neurogenesis after alcohol dependence. Little is known, however, about the role of adolescent-born neurons in hippocampal integrity or the mechanisms of these effects. Understanding the role of neurogenesis in adolescent alcohol use and misuse is critical to our understanding of adolescent susceptibility to alcohol pathology and increased likelihood of developing alcohol problems in adulthood.

Respiratory morbidity in children with congenital heart disease.

OBJECTIVE: To evaluate the respiratory outcome in children with congenital heart disease (CHD), considering recent management procedures and the CHD pathophysiology. DESIGN AND SETTING: Clinical and functional respiratory outcome were evaluated in 8-year-old children with isolated CHD followed up from birth in the prospective population-based EPICARD cohort. PATIENTS: Children were assigned to two groups, based on the pathophysiology of the CHD: CHDs with left-to-right shunt (n = 212) and CHDs with right outflow tract obstruction (n = 113). RESULTS: Current wheezing episodes were observed in 15% of the children with isolated CHD and left-to-right shunt, and 11% of the children with isolated CHD and right outflow tract obstruction (not significant). Total lung capacity (TLC) was the only respiratory function parameter that significantly differed between the two groups. It was lower in children with left-to-right shunt (88.72 ± 0.65% predicted) than in those with right outflow tract obstruction (91.84 ± 0.96, p = 0.006). In multivariate analysis, CHD with left-to-right shunt (coeff. [95% CI]: -3.17 [-5.45; -0.89]) and surgery before the age of 2 months (-6.52 [-10.90; -2.15]) were identified as independent factors associated with significantly lower TLC values. CONCLUSION: Lower TLC remains a long-term complication in CHD, particularly in cases with left-to-right shunt and in patients requiring early repair. These findings suggest that an increase in pulmonary blood flow may directly impair lung development.

Giant Cell Tumor of the Femoral Head: A Case Report and Review of the Literature.

INTRODUCTION: Giant cell tumors (GCTs) of the bone are uncommon primary bone neoplasms that occur mainly in the epiphysis of long bones. GCT of the femoral head is rarely encountered. CASE REPORT: We report a rare case of GCT of the femoral head in a 20-year-old female. The patient presented with pathological fracture. The patient underwent total hip arthroplasty (THA). The aim of this paper is to present a case study with pathological fracture of the femoral head and to report the results of a literature review. CONCLUSION: The treatment of choice for GCT of the proximal femur is a hip arthroplasty with either a standard THA for small confined tumors or endoprosthesis insertion for more extensive tumors. Joint preserving procedures have a high revision rate (47.06%). Denosumab has been tried as a neoadjuvant treatment with some success in certain cases.

[External validation of nomogram for the prediction of recurrences of pregnancy-associated breast cancer]. / Cancer du sein associé à la grossesse : validation d'un nomogramme prédictif de la récidive.

OBJECTIVE: Diagnosis and therapeutics are challenging in pregnancy-related breast cancer and a multidisciplinary approach is therefore essential. A nomogram predictive of recurrence at 36 months of PABC has recently been developed, the aim was to evaluate it on an independent cohort. PATIENTS AND METHODS: This was a monocentric retrospective study including all patients with PABC between January 2004 and March 2018. A Kaplan-Meier method was used for the analysis of recurrence-free survival. Nomogram performance was analysed on 3 indicators: discrimination by a receiver operator characteristic curve (ROC), calibration and net clinical benefit by a decision curve analysis. RESULTS: Forty-one patients have been included. The survival rate was 83 % at 3 years. The nomogram showed acceptable discrimination capacities on receiver-operator characteristic analysis (c-index: 0.78). Decision-curve analysis showed a positive net-benefit for relapse probability ranges between 5 % and 35 %. CONCLUSION: The performance of this prediction model is acceptable but the net clinical benefit low. In conclusion, prediction of recurrence remains challenging with a continued need for more precise tools.

Collective strong coupling in a plasmonic nanocavity.

Quantum plasmonics extends cavity quantum electrodynamics (cQED) concepts to the nanoscale, benefiting from the strongly subwavelength confinement of the plasmon modes supported by metal nanostructures. In this work, we describe in detail collective strong coupling to a plasmonic nanocavity. Similarities and differences to cQED are emphasized. We notably observe that the Rabi splitting can strongly deviate from the standard NeΔΩ1 law, where Ne is the number of emitters and ΔΩ1 is the Rabi splitting for a single emitter. In addition, we discuss the collective Lamb shift and the role of quantum corrections to the emission spectra.

An exploratory study of self-reported complicated grief symptoms in parentally bereaved adults with intellectual disability.

BACKGROUND: Complicated grief involves the experience of grief-related symptoms at a time, and severity, beyond which could be considered adaptive, while persistent complex bereavement disorder (PCBD) has been identified as a condition that requires further study in the typical population. The aims of this study are to (1) explore the symptoms of complicated grief associated with parental bereavement as self-reported by adults with intellectual disabilities (IDs) who have experienced a parental bereavement and (2) conduct an initial examination of how the existing criteria for PCBD apply to this group. METHODS: This study uses a comparative group design, assessing self and staff (proxy) reports for a group of parentally bereaved individuals and a matched group of non-bereaved individuals using the Complicated Grief Questionnaire - ID Self-Report. Participants were 46 individuals with ID, 30 (65%) of whom who had experienced a parental bereavement within the previous 2 years. The age range was 23-67 years (mean = 43.8; SD = 10.3). RESULTS: The results highlight the presence of a range of symptoms of complicated grief in individuals' self-reports, although there was some evidence that separation distress-related symptoms were more apparent. An analysis of individual symptoms showed patterns of higher reports among the bereaved group as would be expected. Comparing staff and self-reports, key criteria showed higher levels in self-reports among the bereaved group. CONCLUSIONS: This study has demonstrated the capacity of people with ID to self-report personal experience of symptoms of complicated grief, when appropriate and accessible assessment tools are used. Some symptoms were more evident among bereaved individuals (compared with non-bereaved participants), and they tended to be from separation distress criteria. This may indicate the relevance of these symptoms for people with ID and question the existing criteria for PCBD in this population, which may have clinical implications for supporting people with ID experiencing a more complicated bereavement response.

In situ study of sigma phase formation in Cr-Co-Ni ternary alloys at 800°C using the long duration experiment facility at Diamond Light Source.

The new long duration experiment facility on beamline I11 at Diamond Light Source has been used to study the kinetics of sigma phase formation in three Cr-Co-Ni alloys. Diffraction data acquired during in situ exposure at 800°C for 50 d showed progressive increases in the sigma fraction. This was accompanied by changes in the proportions of the other phases, which differed markedly between the alloys studied. These results demonstrate the capabilities of the long duration facility for the study of metallurgical phenomena over periods of months to years, a capability not previously available at a synchrotron source.

Mothers' perspectives of the experience and impact of caring for their child with a life-limiting neurodevelopmental disability.

BACKGROUND: This study explored mothers' perspectives of the experiences and impact on themselves and their family when their child has a life-limiting neurodevelopmental disability. METHODS: Twelve mothers were interviewed and topics included mothers' experiences of caring, the impact on themselves and their family of care provision, and the management of day-to-day life. Data were analysed using thematic analysis. RESULTS: Four themes were identified. "Starting Out" relates to mothers' experiences of the birth of their child and the aftermath. "Keeping the Show on the Road" describes the strategies families employ to manage life day to day and the resources they use. "Shouldering the Burden" describes the range of physical, psychological, and social consequences of the situation for mothers and the family. "The Bigger Picture" relates to the world outside the family and how this is navigated. CONCLUSIONS: Findings suggest mothers' overall experiences are characterized by a constant struggle, with evidence of negative impacts on family life, though there is also evidence of resilience and coping. Implications regarding the provision of services are discussed.

Nonlinear Stimulated Raman Exact Passage by Resonance-Locked Inverse Engineering.

We derive an exact and robust stimulated Raman process for nonlinear quantum systems driven by pulsed external fields. The external fields are designed with closed-form expressions from the inverse engineering of a given efficient and stable dynamics. This technique allows one to induce a controlled population inversion which surpasses the usual nonlinear stimulated Raman adiabatic passage efficiency.

[Hot tub lung: A case report]. / Poumon de jacuzzi : à propos d'un cas.

Hot tub lung is a type of hypersensitivity pneumonitis caused by inhalational exposure to the Mycobacterium avium complex. We report the case of a 14-year-old boy presenting dyspnea with hypoxemia, whose medical history and clinical course helped make the diagnosis. Infectious causes were considered first, and antibiotics were initiated without success. Further questioning and explorations led to discussing a hypersensitivity pneumonitis diagnosis. Relapse after exposure to a hot tub enabled us to confirm hot tub lung. Hypersensitivity pneumonitis is a rare cause of pulmonary disorder, especially in children. It should be discussed with unusually severe and progressive cough or dyspnea. Further explorations should therefore be undertaken (CT, fibroscopy). Taking a precise medical history allows early diagnosis, leading to a quick withdrawal from the allergenic source and appropriate treatments.

[Antiglomerular basement disease in children: Literature review and therapeutic options]. / Syndrome de Goodpasture et maladie des anticorps anti-membrane basale chez l'enfant : revue de la littérature.

Antiglomerular basement membrane glomerulonephritis is a rare autoimmune disease characterized by rapidly progressive glomerulonephritis that may be associated with pulmonary hemorrhage (Goodpasture syndrome). The disease is caused by autoantibodies (classically IgGs) directed against the α3 subunit of type IV collagen. This is a rare disease in the adult population and extremely rare in children, with a reported cumulative annual incidence at 1/106 people/year. Among scarce reported pediatric cases (n=31), most are girls (M/F sex ratio, 1:4), and the mean age at diagnoses is 9.2±4.6 years. A medical diagnosis is an emergency and is based on the identification of specific antibodies in the serum, and pathognomonic linear fixation of IgGs along the glomerular basement membrane. Without appropriate treatment, the disease is generally fulminant, and patient and kidney survival is poor. Indeed, glomerular function strongly correlates with histological lesions. The current guidelines recommend the use of plasma exchanges and immunosuppressive drugs. For the past few years, alternative therapeutics such as specific anti-B-cell antibodies (rituximab) or specific extrarenal cleansing such as immunoadsorption have been successfully used in adults. Immunoadsorptions (IAs) can remove pathogenic IgGs from the circulation and do not require plasma infusions, contrary to plasma exchanges. In this review, we discuss the key points of antiglomerular basement membrane glomerulonephritis diagnosis and conventional or alternative therapeutics.

Advances in methods for estimating stopover duration for migratory species using capture-recapture data.

Many species are migratory, resulting in a life cycle divided into periodic stages occurring in different habitats occupied for a limited amount of time. Estimating the time spent in each habitat is crucial to understanding how individuals modulate their activities and thus to evolutionary ecology and conservation biology. Several methods, including some recent promising advances, can be used to estimate stopover duration as well as arrival and departure probabilities at sites where individuals are monitored using capture-recapture sampling. Our objectives in this study were to (1) describe the available models to estimate stopover duration, (2) illustrate with an original data set what kinds of questions can be addressed using the most recent methods, and (3) to provide in a detailed appendix a practical guide for implementing these methods in E-SURGE software. To illustrate the potential of these models for testing biological hypotheses, we used a capture-recapture data set on marbled newts (Triturus marmoratus). We used time-dependent and time-elapsed-since-arrival effects (using both Markovian and semi-Markov processes for the latter) to model stopover duration and the probability of arriving in and departing from a breeding pond for this species and compared the relative performance of the resulting models. Our findings showed a strong sex effect on stopover duration: females stayed on average 5.63 weeks in a breeding pond whereas males stayed only 3.03 weeks. In both sexes, the retention probability was mainly influenced by the time already spent there. Consequently, individuals of the same sex stayed a similar amount of time in a pond, although they did not arrive simultaneously but successively. The selected data set demonstrated the flexibility of these methods and their potential relevance for applications in evolutionary ecology and conservation.

Neither Basic Life Support knowledge nor self-efficacy are predictive of skills among dental students.

AIM: Basic life support (BLS) is considered a core competence for the graduating dentist. This study aimed to measure BLS knowledge, self-efficacy and skills of undergraduate dental students in Dublin. METHODS: This study consisted of a cross-sectional survey measuring BLS knowledge and self-efficacy, accompanied by a directly observed BLS skills assessment in a subsample of respondents. Data were collected in January 2014. Bivariate correlations between descriptive and outcome variables (knowledge, self-efficacy and skills) were tested using Pearson's chi-square. We included knowledge and self-efficacy as predictor variables, along with other variables showing association, into a binary logistic regression model with BLS skills as the outcome measure. RESULTS: One hundred and thirty-five students participated. Almost all (n = 133, 98.5%) participants had BLS training within the last 2 years. One hundred and four (77%) felt that they were capable of providing effective BLS (self-efficacy), whilst only 46 (34.1%) scored >80% of knowledge items correct. Amongst the skills (n = 85) subsample, 38.8% (n = 33) were found to pass the BLS skills assessment. Controlling for gender, age and skills assessor, the regression model did not identify a predictive relationship between knowledge or self-efficacy and BLS skills. CONCLUSIONS: Neither knowledge nor self-efficacy was predictive of BLS skills. Dental students had low levels of knowledge and skills in BLS. Despite this, their confidence in their ability to perform BLS was high and did not predict actual competence. There is a need for additional hands-on training, focusing on self-efficacy and BLS skills, particularly the use of AED.