Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings

Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.     

Bolus versus continuous feeding regimens post gastrostomy tube placement in children

Background/purposeOwing to the frequency of gastrostomy tube placement in children and the numerous regimens used to start feeds after placement we attempted to see if it matters if the initial feeds after a gastrostomy tube placement are provided in a bolus or continuous manner.MethodsUsing a prospective randomized trial, children were randomized to initial bolus or continuous chimney feeding after gastrostomy tube placement. Feeding tolerance and complications related to the gastrostomy tube were collected for 4 weeks after placement.ResultsDemographics were similar in the two groups. Times to goal feeds were similar in both groups, but in the first two weeks more feeding modifications were required in the bolus group. Other than the rate of leakage during the second week after placement which occurred more in the bolus group, all other clinical outcomes were similar in the two groups.ConclusionsOther than minor, clinically insignificant differences noted above, the method of initial feeding after a gastrostomy tube placement does not affect feeding tolerance or gastrostomy tube complication in the first month after placement.Level of evidenceTherapeutic, level II.     

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.


Keywords: Kufor-Rakeb syndrome; autozygosity mapping; Parkinson's disease; chromosome 1p36     

Action research: a useful method of promoting change in primary care?

BACKGROUND: Action research has been used successfully to promote change in disciplines other than medicine, but there are few examples of its use in primary care. OBJECTIVE: We aimed to discuss the benefits and difficulties of using action research in primary care using the example of child health surveillance provision in general practice. METHODS: Twenty-eight general practices were randomly allocated into two groups. Action research was used to promote change in 14 practices by facilitating practice meetings and by providing written feedback. The other 14 practices received written feedback alone. The two groups of practices were compared using the following: (i) semi-structured interviews with one health visitor and GP from each practice; (ii) observation of baby clinics; (iii) questionnaires to parents; and (iv) return rates of child health surveillance reviews from the personal child health record. RESULTS: All 14 practices in the action research arm of the study met as individual practice teams and decided to make changes to their provision of child health surveillance. Ten practices audited their child health surveillance as a result. More health visitors in the action research practices than in the comparison practices reported changes to child health surveillance, audit, communication and use of the personal child health record. The majority of health visitors and GPs thought involvement in the action research process was beneficial. However, we were unable to show a statistically significant difference between the two groups of practices in baby clinic provision, parent satisfaction or the return rate of child health surveillance reviews. CONCLUSION: Our study suggests that action research is a successful method of promoting change in primary care. However, measuring the impact of change is difficult.     

Recruitment of patients into an internet-based clinical trials database: the experience of OncoLink and the National Colorectal Cancer Research Alliance.

PURPOSE: In March 2001, the National Colorectal Cancer Research Alliance (NCCRA) and OncoLink (http://www.oncolink.org) established a database to facilitate patient enrollment onto clinical trials. This study describes the population registering with the database and identifies discrepancies between individuals registering through the Internet and those registering through a telephone call center. METHODS: Participants registered with the NCCRA/OncoLink database through the Internet or a telephone call center. All participants entering the database completed a questionnaire regarding basic demographics, colon cancer risk factors, and indicated how they became aware of the database. Comparisons were made between individuals registering through the Internet and those registering through the telephone call center. RESULTS: A total of 2,162 participants registered during the first 16 months of the database. Most patients registered through the Internet rather than the telephone call center (88% v 12%; P < .001). More females than males registered (73% v 27%; P < .001). The majority (89%) were white. Participants registering through the Internet were younger than those registering through the call center (mean, 48.8 v 55.0 years; P < .001). There was no difference between the two groups with regard to sex or ethnicity. CONCLUSION: The Internet has the potential to increase the likelihood that interested individuals find appropriate clinical trials. Some of the discrepancies that are known to exist for access to the Internet were also seen for those registering with the database through the Internet. Despite these differences, the potential to increase clinical trial enrollment with this type of Internet-based database is high.     

Prothrombin 20210A mutation: a mild risk factor for venous thromboembolism but not for arterial thrombotic disease and pregnancy-related complications in a family study

BACKGROUND: The prothrombin 20210A mutation has been associated with an increased risk of venous thromboembolism (VTE). Its relationship with arterial disease and pregnancy-related complications is, however, still uncertain. The aim of this study was to estimate the incidences of first venous and arterial thrombotic events and pregnancy-related complications in relatives of patients with the mutation. METHODS: After clinical classification, the presence of the mutation was determined in first-degree relatives of consecutive patients with the mutation and a history of VTE or premature atherosclerosis. Relatives with and without the mutation were compared. RESULTS: Of all relatives, 204 (50%) were heterozygous, 5 were homozygous, and 198 had a normal genotype. The annual incidence of a first episode of VTE was 0.35% and 0.18% in carriers and noncarriers, respectively (odds ratio [OR], 1.9; 95% confidence interval [CI], 0.9-4.1); the annual incidence of a first arterial thrombosis was 0.22% and 0.15% in carriers and noncarriers, respectively (OR, 2.3; 95% CI, 0.8-6.3). The annual incidence of a first myocardial infarction was 0.14% (95% CI, 0.05%-0.23%) and 0.05% (0.01%-0.14%) in carriers and noncarriers, respectively (OR, 4.7; 95% CI, 1.0-22.5; P =.06). In particular, homozygous carriers were at increased risk of VTE (OR, 6.0; 95% CI, 1.3-27.2), whereas a history of VTE in the proband influenced the risk of VTE in the relatives. Women with the mutation did not experience significantly more pregnancy-related complications than their relatives with a normal genotype. CONCLUSIONS: The prothrombin mutation is a mild risk factor for VTE within families of carriers but does not seem to play an important role in arterial thrombotic disease, with the exception of myocardial infarction, or in pregnancy-related complications.     

The impact of gender and physical environment on the handwashing behaviour of university students in Ghana

Objectives To establish levels of handwashing after defecation among students at the University of Cape Coast in Ghana, and to test hypotheses that gender and washroom environment affect handwashing behaviour. Methods Data on students’ handwashing behaviour after defecation were collected by structured observations in washrooms. Eight hundred and six observations were made (360 female students and 446 males) in 56 washrooms over 496 observation periods. Observers recorded gender, duration of handwashing, use of soap, and physical characteristics of the washroom (cleanliness, availability of soap, tap flow and presence of handwashing posters). Results Fewer than half the students observed washed their hands or bathed after defecation. Of these, only two‐thirds washed both hands and a minority (20%) used soap; only 16 students (all men) washed their hands for the recommended 15 s or longer. Female students were more likely to wash their hands at all, and were more likely to wash both hands, than males. Cleanliness of the washroom was strongly associated with improved handwashing behaviour for both women and men, as was tap flow quality for female students. Conclusions Handwashing behaviour is generally poor among UCC students, mirroring results from North American Universities. The findings underline the plasticity of handwashing behaviour among this population, and highlight the need for ensuring that the physical environment in washrooms on university campuses is conducive to handwashing.     

Examining dietitians' knowledge,skills and attitudes regarding working with older adults in residential aged care facilities and home care services: An integrative review

Background

The Australian 2021 Royal Commission identified that the dietetic workforce needs to grow in size and capacity to support nutrition care in older adults. However, little is known about dietitians' knowledge, skills and attitudes (KSA) regarding working with older adults in residential aged care facilities (RACFs) or their homes. This review describes dietitians' KSA regarding older adults in RACFs and home care services.

Methods

A systematic literature search was conducted in August 2021 to identify studies examining any aspect of dietitians or student dietitians' KSA working in RACFs and home care services. No restrictions were applied to methodological design, language, location or publication year. Studies were assessed for quality using the Johanna Briggs Institute Quality Appraisal Tools. Study findings were analysed thematically using meta-synthesis.

Results

All 17 studies that met the inclusion criteria explored dietitians' attitudes towards their role, three studies examined perceived knowledge, although no studies objectively explored dietitians' skill levels. Five themes were developed inductively: (1) recognising their contribution as dietitians; (2) lacking clarity about the boundaries of their role; (3) all team members have a role to play in nutrition care; (4) assumptions and biases about working with older people; and (5) needing to build capacity in the workforce.

Discussion

Dietitians have mixed attitudes about working in RACFs and home care services. Future directions include evaluating dietitians' role in RACFs, reviewing education and training and practical opportunities for student dietitians, and assessing the impact of more dietitian support on an older person's dietary intake and nutrition.