Deafness associated with bilateral facial diplegia,ptosis and hypermobile joints--A new autosomal recessive condition?

We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait.     

Effects of terlipressin versus splenectomy on liver regeneration after partial hepatectomy in rats: What we know so far?

正To the editor:We read with great interest the article entitled "Comparative study of the effects of terlipressin versus splenectomy on liver regeneration after partial hepatectomy in rats" by Ulmer et al.[1].The aim of this study was to analyse the impact of terlipressin ver-     

‘Sometimes,it's easier to write the prescription’: physician and patient accounts of the reluctant medicalisation of sleeplessness

The medicalisation of sleep is a rich and growing area of sociological interest. Previous research suggests that medicalisation is occurring within the context of physician office visits, but the inner workings remain unclear. This study is the first to provide perspectives on the office visit interaction from both sleepless patients (n = 27) and the physicians (n = 8) who treat them. Analyses of semi‐structured qualitative interviews reveal that sleep‐related conversations are typically patient‐initiated in routine office visits. Physicians and patients conceptualised insomnia as a symptom of another issue (depression), an everyday problem of living (stress) or the result of a natural life process (aging). Lack of sleep was not necessarily linked to daytime impairment. Even though sleep aids were routinely requested and prescribed, patients and physicians consistently expressed attitudes of reluctance toward the use of sedative hypnotics. I call this a case of ‘reluctant medicalisation’ and highlight the liminal space between pathology and normalcy inhabited by patients and physicians. I also build on recent work acknowledging the dynamics between macro and micro levels of medicalisation and illustrate the influence of multilevel ‘engines’ (consumerism, biotechnology, managed care and physicians) in patients’ and physicians’ accounts. A virtual abstract of this paper can be viewed at: https://youtu.be/7uLHOJPHF0I     

Doppler-echocardiographic indices of diastolic function in heart failure admissions with preserved left ventricular systolic function

Many patients admitted to hospital with heart failure have preserved left ventricular (LV) systolic function. The incidence of isolated diastolic dysfunction as a cause of such admission remains unclear. We aimed to examine diastolic function in unselected admissions from the community with heart failure using the European Study Group on Diastolic Heart Failure (ESGDHF) Doppler-echocardiographic indices of diastolic dysfunction. Primary heart failure was confirmed in 210 of 309 sequential admissions with suspected heart failure. Doppler echocardiography was used to assess left ventricular ejection fraction, wall thickness and parameters of diastolic function including E:A ratio, E-wave deceleration time and isovolumic relaxation time. Of 210 patients studied (118 female), ejection fraction was <45% in 111, leaving a population of 99 with preserved systolic function. We excluded those with significant valvular disease, leaving 56 patients (mean age=77 years) with an ejection fraction >45% and no other relevant abnormality. Twenty were in atrial fibrillation. E-wave deceleration time was >280 ms in 42%. E:A was reversed in 30 of 36 patients in sinus rhythm, but only seven met the ESGDHF criterion of E:A<0.5. Isovolumic relaxation time was >105 ms in 38%. Wall thickness was increased in 75% of cases. The ESGDHF Doppler-echocardiographic criteria for diastolic heart failure were fulfilled in 43%. In clinically confirmed heart failure, 27% of patients had preserved systolic function and no significant valvular disease. Only 43% of this group had confirmed diastolic heart failure by these ESGDHF criteria. The pathophysiological basis of the syndrome in the remaining 57% remains unclear.     

A novel approach to improve undergraduate surgical teaching

Background:

Undergraduate surgery is at an important crossroads. Many departments report significant difficulties delivering effective teaching. Our student feedback indicated a dated surgical curriculum lacking structure, quality and uniformity. We report on a new ”blended” approach employing a combination of professional DVDs, case based discussions, online material and traditional bedside teaching designed to provide structure, standardization, and equality of learning .

Methods:

Year 4 students who had undertaken the new course and year 5 students who had participated in the traditional teaching programme were compared. Students completed a 20 item questionnaire about their experiences of the surgical teaching programme.

Results:

One hundred and seventy-one year 4 (70%) and148 year 5 students (66%) responded. Domains relating to “Overall Satisfaction with the course”, “Approval of innovative teaching methods and interactivity” and “Satisfaction with the clarity of course information” showed improvements when comparing the new and old programmes. However bedside teaching was not rated as highly in the new programme (p<0.05).

Conclusion:

This blended approach has resulted in improved student understanding and engagement. The apparent compromise of bedside teaching may be a reflection of higher expectations. We believe that a similar blended approach has the potential to re-invigorate surgical teaching elsewhere.     

Evidence of low vitamin D intakes in the Australian population points to a need for data-driven nutrition policy for improving population vitamin D status

Background

Nearly one in four Australian adults is vitamin D deficient (serum 25-hydroxyvitamin D concentrations [25(OH)D] < 50 nmol L^–1) and current vitamin D intakes in the Australian population are unknown. Internationally, vitamin D intakes are commonly below recommendations, although estimates generally rely on food composition data that do not include 25(OH)D. We aimed to estimate usual vitamin D intakes in the Australian population.

Methods

Nationally representative food consumption data were collected for Australians aged ≥ 2 years (n = 12,153) as part of the cross-sectional 2011–2013 Australian Health Survey (AHS). New analytical vitamin D food composition data for vitamin D₃, 25(OH)D₃, vitamin D₂ and 25(OH)D₂ were mapped to foods and beverages that were commonly consumed by AHS participants. Usual vitamin D intakes (µg day^–1) by sex and age group were estimated using the National Cancer Institute method.

Results

Assuming a 25(OH)D bioactivity factor of 1, mean daily intakes of vitamin D ranged between 1.84 and 3.25 µg day^–1. Compared to the estimated average requirement of 10 µg day^–1 recommended by the Institute of Medicine, more than 95% of people had inadequate vitamin D intakes. We estimated that no participant exceeded the Institute of Medicine's Upper Level of Intake (63–100 µg day^–1, depending on age group).

Conclusions

Usual vitamin D intakes in Australia are low. This evidence, paired with the high prevalence of vitamin D deficiency in Australia, suggests that data-driven nutrition policy is required to safely increase dietary intakes of vitamin D and improve vitamin D status at the population level.     

Child homicide

Between 1967 and 1988, 69 cases of single perpetrator/single victim child homicide resulted in remands into custody in the Yorkshire region. Sixty-four of these cases were examined retrospectively to identify the characteristics of the perpetrators and of victims under 16 years, the relationship of the victim to the accused and the circumstances of the offence. Sixty-four men singly accused of killing a single child victim are described in detail. They were characterized by relatively young age and a lack of long-term stable relationships. Previous psychiatric contact and/or a history of self-harm was noted in one-third of cases. Over half of the group had a criminal record and previous violence to children was noted in 28% of cases. Fathers or surrogate fathers accounted for nearly two-thirds of the accused. In terms of the victims, children under six months were at greatest risk. Nearly one-third of victims were the biological offspring of the accused. Sexually motivated homicide accounted for approximately 18.7% of deaths. Victim behaviours and domestic disharmony acted as precipitants in 64% of the cases, with 54.7% of the victims dying as a result of physical beatings. Alcohol consumption at the material time was more common than noted in previous studies of child homicide.