bluuebunny/crossref_metadata_2025 huggingface dataset:
Wnt signalling and endocytosis: Mechanisms, controversies and implications for stress responses
Authors: Wu Yu‐Chun , Chiang Yueh‐Chen , Chou Shih‐Hua , Pan Chun‐Liang
Published: November 2020

Wnt signalling is one of a few conserved pathways that control diverse aspects of development and morphogenesis in all metazoan species. Endocytosis is a key mechanism that regulates the secretion and graded extracellular distribution of Wnt glycoproteins from the source cells, as well as Wnt signal transduction in the receiving cells. However, controversies exist regarding the requirement of clathrin‐dependent endocytosis in Wnt signalling. Various lines of evidence from recent studies suggest that Wnt‐β‐catenin signalling is also involved in the regulation of cellular stress responses in adulthood, a role that is beyond its canonical functions in animal development. In this review, we summarise recent advances in the molecular and cellular mechanisms by which endocytosis modulates Wnt signalling. We also discuss how Wnt signalling could be repurposed to regulate mitochondrial stress response in the nematode Caenorhabditis elegans.
Changes in healthcare utilisation for paediatric tonsillectomy and adenoidectomy in the Netherlands: a population‐based study
Authors: van Munster Juliëtte J. C. M. , Zamanipoor Najafabadi Amir H. , van ’t Hooft Janneke , van Barneveld Teus A. , Böhringer Stefan , Visser Jorrit S. , Bremmer Rolf H. , Peul Wilco C. , van den Hout Wilbert B. , van Benthem Peter Paul G.
Published: November 2020

Objectives

Tonsillectomy and adenoidectomy in children are controversial subjects with large regional variation in surgical rates, partly explained by cultural differences and lack of high‐quality evidence on indications for surgery. A quality of care cycle was executed on this topic in the Netherlands. The objective of this study was to estimate changes in healthcare utilisation for paediatric tonsil surgery in the Netherlands.

Methods

Population‐based data on tonsillectomies and adenoidectomies in children up to age 10 were retrieved retrospectively from Dutch administrative databases between 2005 and 2018. A change point analysis was performed to detect the most pivotal change point in surgical rates. We performed univariate analyses to compare surgical patients’ characteristics before and after the pivotalpoint . Impact on healthcare budget and societal costs were estimated using current prices and data from cost‐effectiveness analyses.

Results

The annual number of adenotonsillectomies reduced by 10 952 procedures (−39%; from 129 per 10 000 children to 87 per 10 000 children) between 2005 and 2018, and the number of adenoidectomies by 14 757 procedures (−49%; from 138 per 10 000 children to 78 per 10 000 children). The most pivotal change point was observed around 2012, accompanied by small changes in patient selection for surgery before and after 2012. An estimated €5.3 million per year was saved on the healthcare budget and €10.4 million per year on societal costs.

Conclusion

The quality of care cycle resulted in fewer operations, with a concomitant reduction of costs. We suggest that part of these savings be invested in new research to maintain the quality of care cycle.
“If you're offered help, take it”: A qualitative study examining bariatric patients' experience of telephone‐based cognitive behavioural therapy
Authors: Santiago Vincent A. , Cassin Stephanie E. , Wnuk Susan , Du Chau , Hawa Raed , Parikh Sagar V. , Sockalingam Sanjeev
Published: November 2020

The increased recognition of patients' mental health needs after bariatric surgery has resulted in the emergence of accessible psychosocial interventions; however, there is a dearth of literature on patient experience and satisfaction with these interventions. We explored patients' perceptions and experiences of telephone‐based cognitive behavioural therapy (Tele‐CBT) in this qualitative study. Ten participants from the Toronto Western Hospital Bariatric Surgery Program in Toronto, Canada who completed the Tele‐CBT (ClinicalTrials.gov Identifier: NCT02920112) were individually interviewed from November 2014 to June 2016 until thematic saturation occurred (ie, no more new coding groups emerged). Interviews were transcribed, independently coded, checked for discrepancies, and analysed using grounded theory. Four themes emerged: (1) participants were generally satisfied with Tele‐CBT (eg, therapeutic alliance, resources provided, relevance of therapy to their own bariatric journey), (2) participants noticed emotional, cognitive, and behavioural changes following therapy, (3) the optimal time to deliver the Tele‐CBT was when weight loss plateaued, generally at one‐year post‐surgery, and (4) participants found the telephone modality convenient. CBT was generally found to be helpful and the telephone format increased convenience and accessibility. Patients reported learning skills and receiving resources that could help them improve their well‐being following bariatric surgery.
Diversity and conservation of traditional African vegetables: Priorities for action
Authors: van Zonneveld Maarten , Kindt Roeland , Solberg Svein Ø. , N'Danikou Sognigbé , Dawson Ian K.
Published: November 2020

Aim

Traditional African vegetables have high potential to contribute to healthy diets and climate resilience in sub‐Saharan African food systems. However, their genetic resources are likely at threat because they are underutilized and under the radar of agricultural research. This paper aims to contribute to a conservation agenda for traditional African vegetables by examining the geographical diversity and conservation status of these species.

Location

Sub‐Saharan Africa.

Methods

126 traditional annual and perennial African vegetables were selected for their food and nutrition potential. Food uses and species’ areas of origin were recorded from literature. Species’ presence records were collected from open‐access databases of genebanks and herbaria. These records were used to determine geographical patterns of observed and modelled richness, to distinguish geographical clusters with different compositions of vegetables, to assess species’ ex situ and in situ conservation status and to prioritize countries for conservation actions.

Results

Of the 126 species, 79 originated in sub‐Saharan Africa. High levels of observed and modelled species richness were found in: (a) West Tropical Africa in Ghana, Togo and Benin; (b) West‐Central Tropical Africa in South Cameroon; (c) Northeast and East Tropical Africa in Ethiopia and Tanzania; and (d) Southern Africa in Eswatini. South Sudan, Angola and DR Congo are potential areas of high species richness that require further exploration. In general, ex situ conservation status of the selected species was poor compared to their in situ conservation status.

Main conclusions

Areas of high species richness in West Tropical Africa, South Cameroon and Ethiopia coincide with centres of crop domestication and cultural diversity. Hotspots of diversity in Tanzania and Eswatini are especially rich in wild vegetables. Addressing the conservation of vegetable diversity in West Tropical Africa and South Cameroon is of most urgent concern as vegetable genetic resources from these locations are least represented in ex situ collections.
A comparative study of complete blood count inflammatory markers in substance‐free acute psychotic disorder and substance‐induced psychosis
Authors: Onur Durmaz , Neslihan Akkişi Kumsar , Samet Kurnaz
Published: November 2020

Aim

Recent studies showed a compare complete blood count (CBC) with its related measurements, including neutrophil to lymphocyte ratio (NLR), monocyte to lymphocyte ratio (MLR), and platelet to lymphocyte ratio, are a simple and affordable test for inflammatory markers. The aim of this controlled study is to compare CBC inflammatory markers in substance‐induced psychosis (SIP) and substance‐free acute psychotic disorder (SF‐APD) and to evaluate whether these CBC inflammation values can be used in diagnosis.

Methods

This retrospective study was conducted with the data of 76 SF‐APD patients (including 60 cases of first‐episode psychosis [FEP]), 98 SIP patients (including 48 cases of FEP), and 32 controls.

Results

Patients with SF‐APD and SIP had higher white blood cell counts, neutrophil and monocyte counts, and MLR than controls. An increased NLR was more distinct in SF‐APD, while an increased MLR was observed in APD (both SF and SI) and FEP groups more than in the controls. A receiver operating characteristic analysis showed that the NLR could contribute to the identification of SF‐APD (52.6% sensitivity and 12.5% specificity, area under curve [AUC] = 0.704, 2.47 cutoff value) while an MLR could contribute to the identification of APD (70.1% sensitivity and 12.5% specificity, AUC = 0.842) as well as FEP (71.3% sensitivity and 12.5% specificity AUC = 0.831) with 0.26 cutoff value.

Conclusions

An NLR and MLR might be of interest for inflammatory processes involved in acute and first‐episode psychotic events, regardless of substance involvement.
Early persistence of psychotic‐like experiences in a community sample of adolescents
Authors: Hafeez Danish , Yung Alison R.
Published: November 2020

Aims

Psychotic‐like experiences (PLEs) are common in adolescents. Their persistence may confer increased susceptibility to psychotic disorder. The early evolution of transient to persistent PLEs is not well known. This study aimed to investigate the early persistence of PLEs (over 6–12 months) in a community sample of adolescents and examine baseline and longitudinal associations of early persistent PLEs.

Methods

Five hundred and ninety Year 10 students were administered the community assessment of psychic experiences (CAPE) to measure PLEs at baseline and at follow up 6–12 months later. Persistent PLEs were defined as those present at or above the 90th centile at both time points. Independent variables of depression, psychological distress and functioning were all measured at both baseline and follow up. Self‐esteem, personality and suicidality were assessed at follow up.

Results

The study found 5.1% of participants had early persistent PLEs. Persistence was associated positively with depression and distress at both time points, neuroticism and openness at baseline and suicidality at follow up. Persistence was negatively associated with functioning at both time points, agreeableness at baseline and self‐esteem at follow‐up. Only depression remained significantly associated at both time points when accounting for other variables. Thus, depressive symptoms may account for changes in other domains and be a predictor of early PLEs persistence.

Conclusions

These results reinforce the importance of monitoring and assessing PLEs in young people especially when associated with depression. Further research is required to investigate PLE persistence over longer periods with increased measurement intervals.
Study on the skin status of mid‐pregnancy women based on lipidomics
Authors: Chen Feng , Huang Dianchao
Published: November 2020

Background

Pregnancy is a complex physiological state and its unique changes in skin state have been discussed. Skin surface lipid (SSL) is an important molecular basis for this skin condition, and it affects skin condition in a number of ways, but there are no complete research data on it.

Objectives

To analyze the lipidome profiles of SSL in pregnancies and controls in order to understand SSL changes in pregnancy. It will provide theoretical data of SSL on skin care and prevention of skin diseases during pregnancy.

Methods

Ultra‐high performance liquid chromatography quadrupole time‐of‐flight mass spectrometry (UPLC‐QTOF‐MS) and multivariate statistics were used to investigate the changes of SSL in pregnancy.

Results

Results showed that there were significant differences (P < .05) in the lipidome between pregnancies and controls. Multivariate data analysis indicated that there were 20 important individual lipid species identified, and triglycerides (TGs) were the majority of differentiating lipid species.

Conclusions

The increase of estrogen level in pregnancies antagonizes and inhibits the regulation of androgen on sebaceous gland, resulting in the decrease of sebum secretion and the weakening of skin barrier function. Besides, the decrease of saturated fatty acid content may be the main factor of the decrease of skin barrier function during pregnancy. Additionally, skin cells perform their self‐regulation function to reduce or counteract abnormal state of the skin during pregnancy through the synthesis and secretion of more glycerophospholipids and ceramides.
Patterns of repeated diagnostic testing for COVID‐19 in relation to patient characteristics and outcomes
Authors: Salerno S. , Zhao Z. , Prabhu Sankar S. , Salvatore M. , Gu T. , Fritsche L. G. , Lee S. , Lisabeth L. D. , Valley T. S. , Mukherjee B.
Published: November 2020

Background

Whilst the COVID‐19 diagnostic test has a high false‐negative rate, not everyone initially negative is re‐tested. Michigan Medicine, a primary regional centre, provided an ideal setting for studying testing patterns during the first wave of the pandemic.

Objectives

To identify the characteristics of patients who underwent repeated testing for COVID‐19 and determine if repeated testing was associated with downstream outcomes amongst positive cases.

Methods

Characteristics, test results, and health outcomes for patients presenting for a COVID‐19 diagnostic test were collected. We examined whether patient characteristics differed with repeated testing and estimated a false‐negative rate for the test. We then studied repeated testing patterns in patients with severe COVID‐19‐related outcomes.

Results

Patient age, sex, body mass index, neighbourhood poverty levels, pre‐existing type 2 diabetes, circulatory, kidney, and liver diseases, and cough, fever/chills, and pain symptoms 14 days prior to a first test were associated with repeated testing. Amongst patients with a positive result, age (OR: 1.17; 95% CI: (1.05, 1.34)) and pre‐existing kidney diseases (OR: 2.26; 95% CI: (1.41, 3.68)) remained significant. Hospitalization (OR: 7.88; 95% CI: (5.15, 12.26)) and ICU‐level care (OR: 6.93; 95% CI: (4.44, 10.92)) were associated with repeated testing. The estimated false‐negative rate was 23.8% (95% CI: (19.5%, 28.5%)).

Conclusions

Whilst most patients were tested once and received a negative result, a meaningful subset underwent multiple rounds of testing. These results shed light on testing patterns and have important implications for understanding the variation of repeated testing results within and between patients.
Effectiveness of family‐focused home visiting for maternal mental illness: A systematic review and meta‐analysis
Authors: Leonard Rachel , Linden Mark , Grant Anne
Published: November 2020

Accessible summary

What is known on the subject?

Maternal mental illness reduces a mothers’ ability to bond with their infant and may adversely affect other family members.

Family‐focused practice is an approach which has the potential to support mothers with mental illnesses and reduce the risk of familial transmission of mental illness to children.

What the paper adds to existing knowledge?

Findings suggest that current interventions are not effective in reducing depression or stress among mothers.

The majority of interventions included in this review employed relatively low levels of family‐focused practice.

What are the implications for practice?

While there is a growing integration of family‐focused practice into home visiting guidelines, this may be based on poor evidence.

There is a need for the development of rigorously tested interventions which seek to include the whole family.

Introduction

The evidence on effectiveness of family‐focused home visiting for maternal mental illness has yet to be comprehensively synthesized.

Aim

The aim of this study was to assess current home visiting treatments and interventions for mothers with mental illness and their families.

Method

The primary and secondary outcomes of interest were depression and maternal stress, respectively, both were included in meta‐analyses. We identified 13 (n = 5,540 participants) studies which met inclusion criteria. Eight studies were included in meta‐analyses; five studies were reported narratively.

Results

Findings from the meta‐analysis suggest that home visiting interventions are not effective in reducing depression (SMD −0.13, 95% CI −0.33 to 0.07, p = .21) and maternal stress (MD 0.59, 95% CI −5.19 to 6.38, p = .84).

Discussion and Implications for practice

Findings suggest that current interventions are not effective in reducing depression or stress among mothers. While there is a growing integration of family‐focused practice into home visiting guidelines, this may be based on poor evidence.
Adaptivity and dynamics in type III secretion systems
Authors: Milne‐Davies Bailey , Wimmi Stephan , Diepold Andreas
Published: November 2020

The type III secretion system is the common core of two bacterial molecular machines: the flagellum and the injectisome. The flagellum is the most widely distributed prokaryotic locomotion device, whereas the injectisome is a syringe‐like apparatus for inter‐kingdom protein translocation, which is essential for virulence in important human pathogens. The successful concept of the type III secretion system has been modified for different bacterial needs. It can be adapted to changing conditions, and was found to be a dynamic complex constantly exchanging components. In this review, we highlight the flexibility, adaptivity, and dynamic nature of the type III secretion system.
Met166‐Glu168 residues in human PrP β2‐α2 loop account for evolutionary resistance to prion infection
Authors: Espinosa Juan Carlos , Marín‐Moreno Alba , Aguilar‐Calvo Patricia , Torres Juan María
Published: November 2020

Aims

The amino acid sequence of prion protein (PrP) is a key determinant in the transmissibility of prion diseases. While PrP sequence is highly conserved among mammalian species, minor changes in the PrP amino acid sequence may confer alterations in the transmissibility of prion diseases. Classical bovine spongiform encephalopathy (C‐BSE) is the only zoonotic prion strain reported to date causing variant Creutzfeldt‐Jacob disease (vCJD) in humans, although experimental transmission points to atypical L‐BSE and some classical scrapie isolates as also zoonotic. The precise molecular elements in the human PrP sequence that limit the transmissibility of prion strains such as sheep/goat scrapie or cervid chronic wasting disease (CWD) are not well known.

Methods

The transmissibility of a panel of diverse prions from different species was compared in transgenic mice expressing either wild‐type human PrPC (MDE‐HuTg340) or a mutated human PrPC harbouring Val166‐Gln168 amino acid changes (VDQ‐HuTg372) in the β2‐α2 loop instead of Met166‐Glu168 wild‐type variants.

Results

VDQ‐HuTg372 mice were more susceptible to prions than MDE‐HuTg340 mice in a strain‐dependent manner.

Conclusions

Met166‐Glu168 amino acid residues present in wild‐type human PrPC are molecular determinants that limit the propagation of most prion strains assayed in the human PrP context.
Hydrogen sulphide as a guard cell network regulator
Authors: Pantaleno Rosario , Scuffi Denise , García‐Mata Carlos
Published: November 2020

Hydrogen sulphide (H2S) is an endogenously produced gasotransmitter that has rapidly emerged as an active signalling component of several plant processes, stomatal movement regulation among them. The guard cells (GCs), pairs of cells that neighbour the stomatal pores, transduce endogenous and environmental signals, through signalling network, to control stomatal pore size. In this complex network, which has become a model system for plant signalling, few highly connected components form a core that links most of the pathways. The evidence summarized in this insight, on the interplay between H2S and different key components of the GC networks, points towards H2S as a regulator of the GC core signalling pathway.
Modified setting of negative pressure in children with mild respiratory disease
Authors: Ishimori Shingo , Nagase Shizuka , Kanagawa Atsuko , Nakajiri Tomoshi , Okita Sora , Oyazato Yoshinobu , Nishiyama Atsushi , Yonetani Masahiko
Published: November 2020

Background

Continuous negative extra‐thoracic pressure (CNEP) can prevent children with apnea developing severe respiratory infection with endotracheal intubation. Little is known about children with mild acute respiratory disease, especially with a focus on clinical respiratory symptoms.

Methods

We conducted a prospective, observational study between July 2014 and July 2017 to evaluate the safety of a modified setting of CNEP in hospitalized children with symptoms of chest‐wall retraction or nasal alar breathing without the requirement for immediate intubation therapy in a single center. A modified setting of CNEP was defined as 4 h of treatment comprising 3 consecutive hours of CNEP followed by 1 h of rest.

Results

We studied 19 hospitalized children with retraction or nasal breathing but no possible state of endotracheal intubation. The median age at admission was 0.9 years and the duration of CNEP was 6 days. No sedative drugs were used. The percentage of children with retraction or nasal breathing after 24 h from initiation of CNEP was significantly decreased compared with that just before CNEP (68% vs 100%, P = 0.02). Logistic regression showed no statistical evidence of contributing factors for pulmonary symptoms. No patients were transferred to receive intubation, but one boy reinitiated respiratory support within 6 months after discharge. No children had adverse events of upper airway obstruction, skin injury, interfering with access, hypothermia, discomfort from fitting a cuirass, and neck excoriation.

Conclusions

Our results suggest that a modified setting of CNEP management can be tolerated and continued without concern of adverse events.
Welcome Home—Now Vote! Voting Rights Restoration and Postsupervision Participation
Authors: Morris Kevin
Published: November 2020

Objective

Past research demonstrates that formerly incarcerated individuals turn out at very low rates. Executive Order 181 in New York State allows us to test whether restoring voting rights at an in‐person meeting while an individual is still on parole can increase their postsupervision registration and turnout.

Methods

By linking administrative parole records with the registered voter file I estimate individual‐level turnout. I use an interrupted time series and a two‐stage least squares approach to estimate the causal effect of Executive Order 181 on postsupervision participation.

Results

I find that Executive Order 181 increased postsupervision registration and turnout for individuals discharged from parole as a whole; these results, however, mask racial heterogeneity. Although the participation of nonblack individuals increased substantially, the treatment effect for black individuals was either much smaller or nonexistent.

Conclusion

State policy can meaningfully increase the political participation of individuals even after they are no longer on parole. However, at least in the case of New York State, rights restoration prior to parole discharge appears less effective for black individuals who make up roughly 40 percent of the formerly incarcerated population.
HLA‐DRB1*14:54:09 and ‐DRB1*14:54:10, were identified by next‐generation sequencing in Chinese cord blood donors
Authors: He Yanmin , Tao Sudan , Chen Chen , He Ji , Zhu Faming
Published: November 2020

The sequences of HLA‐DRB1*14:54:09 and HLA‐DRB1*14:54:10 differ from HLA‐DRB1*14:54:01:01 by one single nucleotide substitution, respectively.
Reference study of CityGML software support: The GeoBIM benchmark 2019—Part II
Authors: Noardo Francesca , Arroyo Ohori Ken , Biljecki Filip , Ellul Claire , Harrie Lars , Krijnen Thomas , Eriksson Helen , van Liempt Jordi , Pla Maria , Ruiz Antonio , Hintz Dean , Krueger Nina , Leoni Cristina , Leoz Leire , Moraru Diana , Vitalis Stelios , Willkomm Philipp , Stoter Jantien
Published: November 2020

OGC CityGML is an open standard for 3D city models intended to foster interoperability and support various applications. However, through our practical experience and discussions with practitioners, we have noticed several problems related to the implementation of the standard and the use of standardized data. Nevertheless, a systematic investigation of these issues has never been carried out, and there is thus insufficient evidence for tackling the problems. The GeoBIM benchmark project is aimed at finding such evidence by involving external volunteers, reporting on various aspects of the behavior of tools (geometry, semantics, georeferencing, functionalities), analyzed and described in this article. This study explicitly pointed out the critical points embedded in the format as an evidence base for future development. A companion article (Part I) describes the results of the benchmark related to IFC, the counterpart of CityGML within building information modeling.
Farfield coherent infrasound generation using an air-propane burner
Authors: Smith Chad M. , Gabrielson Thomas B.
Published: November 2020

An invaluable tool in the characterization of any receiver, propagation path, or detection system is a source with known and repeatable signal characteristics. This article presents the theoretical development and engineering design of a coherent (nonexplosive, periodic with controlled duration) infrasound source in the sub-hertz to several hertz band. Design of a sound source within this band is a difficult engineering challenge. The simple source equation, which will govern any portable human-fabricated infrasound source due to the long wavelengths, shows this fundamental difficulty. As frequency decreases, volume displacement must increase by the squared inverse factor of frequency in order to maintain an equal pressure amplitude at equal range. For this reason, the authors evaluate using the high energy density available in gas combustion to periodically displace large volumes of air within the open atmosphere. Prototype testing has verified the capability of generating continuous signals at a fundamental frequency of 0.25 Hz in the farfield—ranges in which pressure and particle velocity can be considered in-phase—where the product of the acoustic wavenumber and range is near 4.7. The generation of frequency content throughout the 0.25–4.0 Hz band with a reasonable signal-to-noise ratio was also demonstrated.
Infantile presentation of 3q26.33-3q27.2 deletion syndrome
Authors: Robilliard Renee , Caylan Mustafa
Published: November 2020

A very rare syndrome, 3q26.33-3q27. 2 microdeletion, has only been described in seven case reports previously, all of which highlight genotypic and phenotypic variations of the presentations identified in school-aged and adolescent children. The patients in these cases had varying sized deletions but overlapping manifestations. Hallmarks of the deletion include intrauterine growth restriction (IUGR), failure to thrive/feeding difficulty, dysmorphic facial features, delayed dentition, pes planus, intellectual/developmental delay, hypotonia and recurrent infections. This case report aims to document the presentation of 3q26.33-3q27.2 microdeletion in infancy for the first time in the literature. Through early recognition of specific genetic causes for IUGR, such as this microdeletion, we can better anticipate and prepare for the patient’s needs in the neonatal period and in the future.
Tips for improving access in endoscopic stapling of pharyngeal pouch
Authors: Mettias Bassem , Uddin Javed
Published: November 2020

Endoscopic stapling is the preferred technique for treatment of symptomatic pharyngeal pouches. The use of stapling with a standard pharyngoscope can be successful in difficult access patients. This modification of the technique can prevent the conversion of an endoscopic approach to an open approach.
Rare complication after pericardial window: symptomatic diaphragmatic hernia containing bowel and liver
Authors: Harsten Rebecca , Kelly Mark , Garner Madeleine , Roberts Peter
Published: November 2020

A 37-year-old woman presented to her local district general hospital with a cough, pleuritic chest pain and intermittent cyanosis. Eight months prior, she underwent a successful pericardial window for recurrent, symptomatic pericardial effusions. On presentation she was hypoxic but haemodynamically stable. Her chest radiograph raised the suspicion of a diaphragmatic hernia, confirmed by CT imaging. This identified herniation through the diaphragm of the transverse colon and left lobe of the liver resulting in cardiac compression and right ventricular dysfunction. She continued to deteriorate and required emergency intubation to allow safe transfer to a tertiary upper gastrointestinal unit. She underwent a laparotomy and repair of the diaphragmatic hernia with an uneventful inpatient recovery. In the literature, diaphragmatic liver herniation is a recognised complication secondary to trauma or congenital defects, however, to our knowledge, there are currently no cases described following pericardial windowing.
Gamma heavy chain disease complicated by pulmonary hypertension, which was successfully treated with lenalidomide
Authors: Shibata Sho , Fukunaga Akiko
Published: November 2020

Heavy chain disease (HCD) is a rare B-cell proliferative neoplasm that is characterised by the production of truncated monoclonal immunoglobulin heavy chains without light chains. Gamma HCD is a subgroup of HCD. A 67-year-old man was admitted to our hospital with dyspnoea and lower leg oedema. Based on the results of heart catheterisation, he was diagnosed with pulmonary hypertension. Laboratory tests revealed an elevated level of IgG, and serum immunoelectrophoresis showed that IgG was a monoclonal gamma heavy chain without light chains. Finally, he was diagnosed with gamma HCD complicated by pulmonary hypertension. Bortezomib and dexamethasone therapy was initiated, but became refractory within 8 months. Therefore, the treatment was switched to lenalidomide and dexamethasone therapy, and the disease has been stably controlled for more than 2 years. To the best of our knowledge, this is the first case of gamma HCD being successfully treated by lenalidomide and dexamethasone therapy.
Unilateral nipple discharge in a man without a palpable mass diagnosed as breast cancer
Authors: Ramakrishna Karan N , Durland Justin , Ramos Christopher , Dhamoon Amit Singh
Published: November 2020

A 69-year-old man without a family history of breast cancer presented to his primary care physician with a 1-year history of clear, unilateral nipple discharge (ND) without an associated palpable breast mass. His laboratory findings were significant for hyperprolactinaemia at 28 ng/mL. Diagnostic work up including mammography, ultrasound and core needle biopsy ultimately revealed a ductal carcinoma in situ and a rare papillary variant of invasive ductal carcinoma. The patient was referred to a multidisciplinary oncology team and underwent a right total mastectomy followed by adjuvant hormonal therapy. The patient made a good postoperative recovery and remains without evidence of recurrence 6 months from surgery. Male breast cancer is rare, but its incidence is increasing. Male breast cancer presenting as ND without a palpable mass is uncommon. Early recognition of breast symptoms in men can lead to earlier diagnoses and improved outcomes.
Colon metastases as first clinical manifestation of lobular breast carcinoma with no subsequent evidence of breast disease
Authors: Abu Zaanona Mohammed Isaac , Gulati Aishwarya , Rowland Kendrith
Published: November 2020

A 73-year-old woman was brought to the oestrogen receptor for altered mental status. She was found to be hypotensive and hypoglycaemic and admitted to the intensive care unit. She had a history of chronic watery diarrhoea which had recently increased over the last 2 weeks and was associated with vague abdominal pain. A CT showed bowel wall thickening concerning for colitis. Due to the increasing diarrhoea, a colonoscopy was done after all stool studies came back negative. Polyps in the ascending, transverse and sigmoid colon were found to be tubular adenomas but random colonic mucosa biopsies were revealed to be histologically consistent with metastatic lobular breast carcinoma. Further workup revealed no primary breast disease.
Sequential spontaneous compartment syndrome in multiple limbs in a young adult with GYG1 gene mutation
Authors: Joseph Vinay Mathew , Nagy Mathias Thomas , Akhtar Sohail , Ng Chye Yew
Published: November 2020

Compartment syndrome is a surgical emergency requiring immediate intervention. Majority of compartment syndromes are associated with trauma or surgery. Spontaneous compartment syndrome in multiple limbs is rare and alternative diagnosis should be sought. We report a young adult man who developed compartment syndrome in all four limbs sequentially over 4 years. On further evaluation, he was found to have a gene mutation in exon 3 of GYG1 gene. Spontaneous compartment syndrome in patients with GYG1 gene mutation does not appear to have been previously recognised. Although a direct causality cannot be confidently drawn, this gene is involved in muscle energy utilisation and is known to cause metabolic defect. Acute compartment syndrome, once diagnosed, warrants emergency surgical decompression. The subsequent management of spontaneous compartment syndrome demands a thorough medical assessment to identify any underlying metabolic or genetic predisposition.
Subacute thyroiditis with airway compromise in a 5-year-old boy
Authors: Ramineni Pardha , Kamath Sowmini Padmanabh , Joshi Jayateertha , Rao Sadashiva
Published: November 2020

A 5-year-old boy presented with intermittent fever for 1 month, painful neck swelling associated with dysphagia, hoarseness of voice for 3 weeks and dyspnoea of 1-day duration. On evaluation, he had elevated serum thyroglobulin levels and inflammatory markers. There was a diffuse glandular thyroid enlargement with hypoechoic areas on neck ultrasonography. Fine-needle aspiration cytology was suggestive of subacute thyroiditis (SAT), and MRI of the neck confirmed narrowing of the trachea by the enlarged thyroid. He received steroids to relieve airway compression. Levothyroxine was started. On follow-up, he was symptom-free and euthyroid; steroids and levothyroxine were discontinued. SAT presenting with compression of trachea is rare in children. This highlights the need for identifying the type of thyroiditis to determine treatment modality.
Resection of retroperitoneal soft-tissue sarcoma involving the abdominal aorta
Authors: Quildrian Sergio Damián , Nardi Walter Sebastián , David Michel
Published: November 2020

Complete surgical resection of soft-tissue sarcomas (STSs) frequently requires complex multivisceral resections, which is the most important factor related to overall survival and local recurrence. Major vascular involvement is not rare in patients with primary retroperitoneal STSs. We present a 54-year-old woman with a retroperitoneal STS encasing the infrarenal abdominal aorta. The patient underwent complete oncological resection with vascular reconstruction using a bi-iliac vascular graft. Major blood vessel involvement is not a contraindication for STS surgery with a curative intent.
Nivolumab for malignant peritoneal mesothelioma
Authors: Tanaka Takaaki , Miyamoto Yosuke , Sakai Atsue , Fujimoto Nobukazu
Published: November 2020

Malignant peritoneal mesothelioma (MPeM) is a highly malignant neoplasm of the peritoneum, which carries a poor prognosis. A 70-year-old man, who was employed in the shipbuilding industry and exposed to asbestos for 50 years, was found to have a low-density lesion in the peritoneum around the liver and spleen, associated with multiple mediastinal and parasternal lymphadenopathy. Laparoscopic exploration was performed, and biopsy specimen analysis led to a diagnosis of MPeM. Initial systemic chemotherapy comprising cisplatin and pemetrexed yielded a modest cytoreductive effect. However, 4 months later, the patient presented with abdominal distension and anorexia. CT images revealed massive ascites, bowel obstruction and an enlarged intra-abdominal tumour, which was considered progression of the MPeM. The patient was treated with nivolumab. Bowel obstruction was improved after the first administration, and his sense of abdomen distension completely disappeared after the third administration. This case supports the utility of immunotherapy in MPeM.
Malignant peripheral nerve sheath tumour arising in the submandibular gland
Authors: Alvi Muhammad Ibaad ur rehman , Pilkington Richard , Sahota Raguwinder S , Adams James
Published: November 2020

Malignant peripheral nerve sheath tumours (MPNSTs) are tumours that arise from or differentiate towards cells of the peripheral nerve sheath. They are extremely rare with an incidence of 0.001% in the general population. The most common association is with neurofibromatosis 1—an incidence of 5%–42% in this subset of the population is quoted in the literature. These tumours are aggressive with a high rate of local recurrence. Complete surgical excision remains the mainstay of treatment. A literature search found only three case reports of MPNSTs originating in the salivary glands—in all other cases the parotid gland. We present here the first documented case of a patient presented with an MPNST of the submandibular gland managed surgically by a specialty centre.
Delivery of high-dose radiation for recurrence of breast cancer in a patient with hidradenitis suppurativa
Authors: Rozati Hamoun , Ferguson Felicity J , Rashidghamat Ellie , Anand Girija
Published: November 2020

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterised by inflammatory nodules, abscesses, sinus tract formation and scarring. There is a lack of evidence for the use of radical radiotherapy for patients with a diagnosis of HS. A 56-year-old woman with a long-standing diagnosis of HS presented with a cutaneous local recurrence of breast cancer. Radical radiotherapy was offered despite issues with previous prolonged postoperative wound healing associated with the underlying HS. A multidisciplinary evaluation was conducted with breast surgeons, dermatologists and radiation oncologists to assess the safety of delivery of radical radiotherapy. Five weeks post radiotherapy, the patient had no significant residual symptoms from her breast cancer treatment for her HS and no escalation of treatment was required for her HS. Factors contributing to safe delivery of radical radiotherapy include medical optimisation prior to and during treatment, radiation dose, radiation technique and vigilant post-treatment surveillance.
Outcomes after surgery in patients with diabetes who used metformin: a retrospective cohort study based on a real-world database
Authors: Lin Chao-Shun , Chang Chuen-Chau , Yeh Chun-Chieh , Chang Yi-Cheng , Chen Ta-Liang , Liao Chien-Chang
Published: November 2020

Introduction

Limited information was available regarding the perioperative outcomes in patients with and without use of metformin. This study aims to evaluate the complications and mortality after major surgery in patients with diabetes who use metformin.

Research design and methods

Using a real-world database of Taiwan’s National Health Insurance from 2008 to 2013, we conducted a matched cohort study of 91 356 patients with diabetes aged >20 years who used metformin and later underwent major surgery. Using a propensity score-matching technique adjusted for sociodemographic characteristics, medical condition, surgery type, and anesthesia type, 91 356 controls who underwent surgery but did not use metformin were selected. Logistic regression was used to calculate the ORs with 95% CIs for postoperative complications and 30-day mortality associated with metformin use.

Results

Patients who used metformin had a lower risk of postoperative septicemia (OR 0.94, 95% CI 0.90 to 0.98), acute renal failure (OR 0.87, 95% CI 0.79 to 0.96), and 30-day mortality (OR 0.79, 95% CI 0.71 to 0.88) compared with patients who did not use metformin, in both sexes and in every age group. Metformin users who underwent surgery also had a decreased risk of postoperative intensive care unit admission (OR 0.60, 95% CI 0.59 to 0.62) and lower medical expenditures (p<0.0001) than non-use controls.

Conclusions

Among patients with diabetes, those who used metformin and underwent major surgery had a lower risk of complications and mortality compared with non-users. Further randomized clinical trials are needed to show direct evidence of how metformin improves perioperative outcomes.
Genetically engineered pigs manifesting pancreatic agenesis with severe diabetes
Authors: Nagaya Masaki , Hasegawa Koki , Watanabe Masahito , Nakano Kazuaki , Okamoto Kazutoshi , Yamada Takeshi , Uchikura Ayuko , Osafune Kenji , Yokota Harumasa , Nagaoka Taiji , Matsunari Hitomi , Umeyama Kazuhiro , Kobayashi Eiji , Nakauchi Hiromitsu , Nagashima Hiroshi
Published: November 2020

Introduction

Pancreatic duodenum homeobox 1 (Pdx1) expression is crucial for pancreatic organogenesis and is a key regulator of insulin gene expression. Hairy and enhancer of split 1 (Hes1) controls tissue morphogenesis by maintaining undifferentiated cells.Hes1encodes a basic helix loop helix (bHLH) transcriptional repressor and functionally antagonizes positive bHLH genes, such as the endocrine determination gene neurogenin-3. Here, we generated a new pig model for diabetes by genetic engineeringPdx1andHes1genes.

Research design and methods

A transgenic (Tg) chimera pig with germ cells carrying a construct expressingHes1under the control of thePdx1promoter was used to mate with wild-type gilts to obtain Tg piglets.

Results

The Tg pigs showed perinatal death; however, this phenotype could be rescued by insulin treatment. The duodenal and splenic lobes of the Tg pigs were slender and did not fully develop, whereas the connective lobe was absent. β cells were not detected, even in the adult pancreas, although other endocrine cells were detected, and exocrine cells functioned normally. The pigs showed no irregularities in any organs, except diabetes-associated pathological alterations, such as retinopathy and renal damage.

Conclusion

Pdx1-Hes1Tg pigs were an attractive model for the analysis of pancreatic development and testing of novel treatment strategies for diabetes.
Qualitative study of the needs of injured children and their families after a child’s traumatic injury
Authors: Jones Samantha , Tyson Sarah , Davis Naomi , Yorke Janelle
Published: November 2020

Objective

To explore the needs of children and their families after a child’s traumatic injury.

Design

Semi-structured qualitative interviews with purposeful sampling for different types of injuries and a theoretical thematic analysis.

Participants

32 participants; 13 children living at home after a traumatic injury, their parents/guardians (n=14) and five parents whose injured child did not participate.

Setting

Two Children’s Major Trauma Centres (hospitals) in England.

Results

Interviews were conducted a median 8.5 months (IQR 9.3) postinjury. Injuries affected the limbs, head, chest, abdomen, spine or multiple body parts. Participants highlighted needs throughout their recovery (during and after the hospital stay). Education and training were needed to help children and families understand and manage the injury, and prepare for discharge. Information delivery needed to be timely, clear, consistent and complete, include the injured child, but take into account individuals’ capacity to absorb detail. Similarly, throughout recovery, services needed to be timely and easily accessible, with flexible protocols and eligibility criteria to include injured children. Treatment (particularly therapy) needed to be structured, goal directed and of sufficient frequency to return injured children to their full function. A central point of contact is required after hospital discharge for advice, reassurance and to coordinate ongoing care. Positive partnerships with professionals helped injured children and their families maintain a sense of hope and participate in joint decision making about their care.

Conclusion

Throughout the full trajectory of recovery injured children and their families need family centred, accessible, flexible, coordinated health services, with more effective harmonious, communication between professionals, the child and their family. There is a requirement for support from a single point of contact and a system that monitors the needs of the injured child and their family after hospital discharge.
Mothers’ experiences of perinatal care in Belgian public hospitals: exploring the social inequalities. Protocol for a cross-sectional survey
Authors: Schönborn Claudia , Castetbon Katia , Sow Mouctar , Racape Judith , De Spiegelaere Myriam
Published: November 2020

Introduction

In Europe, the social inequalities in perinatal health are usually found to be to the disadvantage of non-European immigrants and women with lower levels of education and income. Among the possible underlying mechanisms are inadequate access to healthcare services and suboptimal care. To explore this hypothesis in the Belgian context, our research will describe detailed maternal socioeconomic and migration characteristics, explore how these factors relate to each other, and how they relate to women’s perinatal care trajectories and experiences of care.

Methods

Using a modified version of the Migrant-Friendly Maternity Care Questionnaire, we will survey 900 mothers of Belgian nationality or a nationality from a North or Sub-Saharan African country, and having given birth in four maternity wards in Brussels. The questionnaire has been adapted to the study objectives and the Belgian context. Interviewers will administer the 116-item questionnaire to all women agreeing to participate and meeting inclusion criteria, within 14 days of having given birth. Clinical information will be extracted from hospital records.

Analysis

We will estimate the associations of women’s socioeconomic and migration characteristics with:

Women’s antenatal care trajectories (timing of first antenatal consultation, minimum recommended number of consultations, and problems accessing care).

Obstetric practices such as episiotomies, emergency caesarean sections, and inductions.

Patient experience such as feelings of discrimination, respect, and understanding of information.

We will use descriptive statistics, multiple correspondence analysis, and simple and multiple logistic regressions.

Ethics and dissemination

Ethical approval has been obtained from the hospital Ethics Committees and from the Université libre de Bruxelles (No: P2017/055/B406201730877). Written informed consent will be sought from all participants.

In addition to disseminating findings and recommendations to the scientific community through open-source journal articles and conferences, we will also address local organisations and healthcare professionals via a written report and seminars.