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Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.
Wearing face masks to combat the spread of COVID-19 became a politicized and contested practice in the United States, largely due to misinformation and partisan cues from masking opponents. This article examines whether Public Service Announcements (PSAs) can encourage the use of face masks. We designed two PSAs: one describes the benefits of using face masks; the other uses a novel messenger (i.e., a retired US general) to advocate for them. We conducted two studies. First, we aired our PSAs on television and surveyed residents of the media market to determine if they saw the PSA and how they felt about wearing face masks. Second, we conducted a randomized experiment on a diverse national sample. Both studies suggest that exposure to our PSAs increased support for face masks and induced greater compliance with public health advice. These findings have implications for how governments might fight pandemics.
Visual-vestibular mismatch patients experience persistent postural and perceptual dizziness. Previous studies have shown the benefit of vestibular rehabilitation for visual desensitisation using gaze stabilisation exercises and optokinetic stimulation. This study assessed the benefit of customised vestibular rehabilitation with visual desensitisation and virtual reality based therapy rehabilitation in the management of patients with persistent postural-perceptual dizziness.
This retrospective study included 100 patients with Situational Characteristic Questionnaire scores of more than 0.9. All patients received virtual reality based therapy along with usual vestibular rehabilitation using gaze stabilisation exercises with a plain background followed by graded visual stimulation and optokinetic digital video disc stimulation. Patients’ symptoms were assessed before and after vestibular rehabilitation using the Situational Characteristic Questionnaire, Generalised Anxiety Disorder Assessment-7, Nijmegen Questionnaire and Dizziness Handicap Inventory.
There were statistically significant improvements in Situational Characteristic Questionnaire scores, Nijmegen Questionnaire scores and Dizziness Handicap Inventory total score. However, there was a statistically insignificant difference in Generalised Anxiety Disorder Assessment-7 scores. There was a significant positive correlation between post-rehabilitation Situational Characteristic Questionnaire scores and other questionnaire results.
Incorporating virtual reality based therapy with customised vestibular rehabilitation exercises results in significant improvement in persistent postural-perceptual dizziness related symptoms.
Infectious diseases outbreaks are a cause of significant morbidity and mortality among hospitalized patients. Infants admitted to the neonatal intensive care unit (NICU) are particularly vulnerable to infectious complications during hospitalization. Thus, rapid recognition of and response to outbreaks in the NICU is essential. At Rush University Medical Center, whole-genome sequencing (WGS) has been utilized since early 2016 as an adjunctive method for outbreak investigations. The use of WGS and potential lessons learned are illustrated for 3 different NICU outbreak investigations involving methicillin-resistant Staphylococcus aureus (MRSA), group B Streptococcus (GBS), and Serratia marcescens. WGS has contributed to the understanding of the epidemiology of outbreaks in our NICU, and it has also provided further insight in settings of unusual diseases or when lower-resolution typing methods have been inadequate. WGS has emerged as the new gold standard for evaluating strain relatedness. As barriers to implementation are overcome, WGS has the potential to transform outbreak investigation in healthcare settings.
To contain the spread of COVID-19, experts emphasize the importance of wearing masks. Unfortunately, this practice may put black people at elevated risk for being seen as potential threats by some Americans. In this study, we evaluate whether and how different types of masks affect perceptions of black and white male models. We find that non-black respondents perceive a black male model as more threatening and less trustworthy when he is wearing a bandana or a cloth mask than when he is not wearing his face covering—especially those respondents who score above average in racial resentment, a common measure of racial bias. When he is wearing a surgical mask, however, they do not perceive him as more threatening or less trustworthy. Further, it is not that non-black respondents find bandana and cloth masks problematic in general. In fact, the white model in our study is perceived more positively when he is wearing all types of face coverings. Although mandated mask wearing is an ostensibly race-neutral policy, our findings demonstrate the potential implications are not.
Online grocery shopping could improve access to healthy food, but it may not be equally accessible to all populations – especially those at higher risk for food insecurity. The current study aimed to compare the socio-demographic characteristics of families who ordered groceries online v. those who only shopped in-store.
We analysed enrollment survey and 44 weeks of individually linked grocery transaction data. We used univariate χ2 and t-tests and logistic regression to assess differences in socio-demographic characteristics between households that only shopped in-store and those that shopped online with curbside pickup (online only or online and in-store).
Two Maine supermarkets.
863 parents or caregivers of children under 18 years old enrolled in two fruit and vegetable incentive trials.
Participants had a total of 32 757 transactions. In univariate assessments, online shoppers had higher incomes (P < 0 0001), were less likely to participate in Special Supplemental Nutrition Program for Women, Infants, and Children or Supplemental Nutrition Assistance Program (SNAP; P < 0 0001) and were more likely to be female (P = 0·04). Most online shoppers were 30–39 years old, and few were 50 years or older (P = 0·003). After controlling for age, gender, race/ethnicity, number of children, number of adults, income and SNAP participation, female primary shoppers (OR = 2·75, P = 0·003), number of children (OR = 1·27, P = 0·04) and income (OR = 3·91 for 186–300 % federal poverty line (FPL) and OR = 6·92 for >300 % FPL, P < 0·0001) were significantly associated with likelihood of shopping online.
In the current study of Maine families, low-income shoppers were significantly less likely to utilise online grocery ordering with curbside pickup. Future studies could focus on elucidating barriers and developing strategies to improve access.
This review assesses regenerative medicine of the upper aerodigestive tract during the first two decades of the twenty-first century, focusing on end-stage fibrosis and tissue loss in the upper airways, salivary system, oropharynx and tongue.
PubMed, Embase, Google Scholar, Cochrane Library, Medline and clinicaltrials.org were searched from 2000 to 2019. The keywords used were: bioengineering, regenerative medicine, tissue engineering, cell therapy, regenerative surgery, upper aerodigestive tract, pharynx, oropharynx, larynx, trachea, vocal cord, tongue and salivary glands. Original studies were subcategorised by anatomical region. Original human reports were further analysed. Articles on periodontology, ear, nose and maxillofacial disorders, and cancer immunotherapy were excluded.
Of 716 relevant publications, 471 were original studies. There were 18 human studies included, within which 8 reported airway replacements, 5 concerned vocal fold regeneration and 3 concerned salivary gland regeneration. Techniques included cell transplantation, injection of biofactors, bioscaffolding and bioengineered laryngeal structures.
Moderate experimental success was identified in the restoration of upper airway, vocal fold and salivary gland function. This review suggests that a shift in regenerative medicine research focus is required toward pathology with a higher disease burden.
This paper describes a simple method of securing tissue coverage of the great vessels at the initial surgery by rotating the divided sternal heads of the sternocleidomastoid muscle, a routine step during laryngectomy, and approximating them to the prevertebral fascia. The paper presents an illustrated case example where this technique in a salvage laryngectomy repair resulted in a protected vascular axis following a salivary leak.
Since utilising this technique, there has been a marked reduction in the requirement of subsequent flap procedures to protect vessels, and no episodes of threatened or actual carotid blowout.
Through drinking water, humans are commonly exposed to atrazine, a herbicide that acts as an endocrine and metabolic disruptor. It interferes with steroidogenesis, including promoting oestrogen production and altering cell metabolism. However, its precise impact on uterine development remains unknown. This study aimed to determine the effect of prolonged atrazine exposure on the uterus. Pregnant mice (n = 5/group) received 5 mg/kg body weight/day atrazine or DMSO in drinking water from gestational day 9.5 until weaning. Offspring continued to be exposed until 3 or 6 months of age (n = 5–9/group), when uteri were collected for morphological and molecular analyses and steroid quantification. Endometrial hyperplasia and leiomyoma were evident in the uteri of atrazine-exposed mice. Uterine oestrogen concentration, oestrogen receptor expression, and localisation were similar between groups, at both ages (P > 0.1). The expression and localisation of key epithelial-to-mesenchymal transition (EMT) genes and proteins, critical for tumourigenesis, remained unchanged between treatments, at both ages (P > 0.1). Hence, oestrogen-mediated changes to established EMT markers do not appear to underlie abnormal uterine morphology evident in atrazine exposure mice. This is the first report of abnormal uterine morphology following prolonged atrazine exposure starting in utero, it is likely that the abnormalities identified would negatively affect female fertility, although mechanisms remain unknown and require further study.
To describe a pilot project infection prevention and control (IPC) assessment conducted in skilled nursing facilities (SNFs) in New York State (NYS) during a pivotal 2-week period when the region became the nation’s epicenter for coronavirus disease 2019 (COVID-19).
A telephone and video assessment of IPC measures in SNFs at high risk or experiencing COVID-19 activity.
SNFs in 14 New York counties, including New York City.
A 3-component remote IPC assessment: (1) screening tool; (2) telephone IPC checklist; and (3) COVID-19 video IPC assessment (ie, “COVIDeo”).
In total, 92 SNFs completed the IPC screening tool and checklist: 52 (57%) were conducted as part COVID-19 investigations, and 40 (43%) were proactive prevention-based assessments. Among the 40 proactive assessments, 14 (35%) identified suspected or confirmed COVID-19 cases. COVIDeo was performed in 26 (28%) of 92 assessments and provided observations that other tools would have missed: personal protective equipment (PPE) that was not easily accessible, redundant, or improperly donned, doffed, or stored and specific challenges implementing IPC in specialty populations. The IPC assessments took ∼1 hour each and reached an estimated 4 times as many SNFs as on-site visits in a similar time frame.
Remote IPC assessments by telephone and video were timely and feasible methods of assessing the extent to which IPC interventions had been implemented in a vulnerable setting and to disseminate real-time recommendations. Remote assessments are now being implemented across New York State and in various healthcare facility types. Similar methods have been adapted nationally by the Centers for Disease Control and Prevention.
By nature of their specialty, otolaryngologists are disproportionately exposed to coronavirus disease 2019 through aerosol-generating procedures and close proximity to the oropharynx during examination.
Our single-centre, retrospective study analysed the pertinence of guidelines produced by ENT UK to improve the investigation and management of suspected upper aerodigestive fish bone foreign bodies during the coronavirus disease 2019 pandemic.
Our results demonstrated 43.3 per cent (n = 13) low-risk cases and 56.7 per cent (n = 17) moderate-risk cases. Nine fish bones (two low risk, seven moderate risk) were found; none of these were confirmed with X-ray and three (moderate risk) required nasoendoscopy for diagnosis. One patient required rigid pharyngoscopy.
This study confirms that soft tissue neck X-ray and flexible nasoendoscopy are unnecessary in low-risk cases; however, early nasoendoscopy in higher suspicion cases is appropriate. Recommendations are made about the long-term sustainability of these guidelines, and additional measures are encouraged that relate to repeat attendances and varying prevalence of coronavirus disease 2019 in the hospital catchment area.
Retrospectively apply criteria from Center to Advance Palliative Care to a cohort of children treated in a cardiac ICU and compare children who received a palliative care consultation to those who were eligible for but did not receive one.
Medical records of children admitted to a cardiac ICU between January 2014 and June 2017 were reviewed. Selected criteria include cardiac ICU length of stay >14 days and/or ≥ 3 hospitalisations within a 6-month period.
Measurements and Results:
A consultation occurred in 17% (n = 48) of 288 eligible children. Children who received a consult had longer cardiac ICU (27 days versus 17 days; p < 0.001) and hospital (91 days versus 35 days; p < 0.001) lengths of stay, more complex chronic conditions at the end of first hospitalisation (3 versus1; p < 0.001) and the end of the study (4 vs.2; p < 0.001), and higher mortality (42% versus 7%; p < 0.001) when compared with the non-consulted group. Of the 142 pre-natally diagnosed children, only one received a pre-natal consult and 23 received it post-natally. Children who received a consultation (n = 48) were almost 2 months of age at the time of the consult.
Less than a quarter of eligible children received a consultation. The consultation usually occurred in the context of medical complexity, high risk of mortality, and at an older age, suggesting potential opportunities for more and earlier paediatric palliative care involvement in the cardiac ICU. Screening criteria to identify patients for a consultation may increase the use of palliative care services in the cardiac ICU.
16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.
The diatomic free radical methylidyne (CH) is an important tracer of the interstellar medium, and the study of it was critical to our earliest understanding of star formation. Although it is detectable across the electromagnetic spectrum, observations at radio frequencies allow for a study of the kinematics of the diffuse and dense gas in regions of new star formation. There is only two published (single-dish) detections of the low-frequency hyperfine transitions between 700 and 725 MHz, despite the precise frequencies being known. These low-frequency transitions are of particular interest as they are shown in laboratory experiments to be more sensitive to magnetic fields than their high-frequency counterparts (with more pronounced Zeeman splitting). In this work, we take advantage of the radio quiet environment and increased resolution of the Australian Square Kilometre Array Pathfinder (ASKAP) over previous searches to make a pilot interferometric search for CH at 724.7883 MHz (the strongest of the hyperfine transitions) in RCW 38. We found the band is clean of radio frequency interference, but we did not detect the signal from this transition to a five-sigma sensitivity limit of 0.09 Jy, which corresponds to a total column density upper limit of 1.9
cm–2 for emission and 1.3
cm–2 for absorption with an optical depth limit of 0.95. Achieved within 5 h of integration, this column density sensitivity should have been adequate to detect the emission or absorption in RCW 38, if it had similar properties to the only previous reported detections in W51.
This two-part article examines the global public health (GPH) information system deficits emerging in the coronavirus disease 2019 (COVID-19) pandemic. It surveys past, missed opportunities for public health (PH) information system and operational improvements, examines current megatrend changes to information management, and describes a new multi-disciplinary model for population-based management (PBM) supported by a GPH Database applicable to pandemics and GPH crises.
The catastrophic declines of three species of ‘Critically Endangered’ Gyps vultures in South Asia were caused by unintentional poisoning by the non-steroidal anti-inflammatory drug (NSAID) diclofenac. Despite a ban on its veterinary use in 2006 (India, Nepal, Pakistan) and 2010 (Bangladesh), residues of diclofenac have continued to be found in cattle carcasses and in dead wild vultures. Another NSAID, meloxicam, has been shown to be safe to vultures. From 2012 to 2018, we undertook covert surveys of pharmacies in India, Nepal and Bangladesh to investigate the availability and prevalence of NSAIDs for the treatment of livestock. The purpose of the study was to establish whether diclofenac continued to be sold for veterinary use, whether the availability of meloxicam had increased and to determine which other veterinary NSAIDs were available. The availability of diclofenac declined in all three countries, virtually disappearing from pharmacies in Nepal and Bangladesh, highlighting the advances made in these two countries to reduce this threat to vultures. In India, diclofenac still accounted for 10–46% of all NSAIDs offered for sale for livestock treatment in 2017, suggesting weak enforcement of existing regulations and a continued high risk to vultures. Availability of meloxicam increased in all countries and was the most common veterinary NSAID in Nepal (89.9% in 2017). Although the most widely available NSAID in India in 2017, meloxicam accounted for only 32% of products offered for sale. In Bangladesh, meloxicam was less commonly available than the vulture-toxic NSAID ketoprofen (28% and 66%, respectively, in 2018), despite the partial government ban on ketoprofen in 2016. Eleven different NSAIDs were recorded, several of which are known or suspected to be toxic to vultures. Conservation priorities should include awareness raising, stricter implementation of current bans, bans on other vulture-toxic veterinary NSAIDs, especially aceclofenac and nimesulide, and safety-testing of other NSAIDs on Gyps vultures to identify safe and toxic drugs.
The Oxford English Dictionary defines psychopharmacology as ‘the scientific study of the effect of drugs on the mind and behaviour’ (Oxford English Dictionary Online, 2018). The earliest reference to the term was in 1548 when Reinhard Lorichius published the prayer book Psychopharmakon, hoc est Medicina Animae (Lehmann, 1993; Wolman, 1977). Lorichius coined the term ‘psychopharmakon’ to refer to spiritual medicine that could reduce human suffering. The word psychopharmacology was first used in a scientific paper in 1920 by a pharmacologist working at Johns Hopkins University who wrote a short paper entitled Contributions to psychopharmacology (Macht, 1920).