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.     

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.     

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.     

Sucker with a fat lip: The soft tissues underlying the viscoelastic grip of remora adhesion

Remoras are fishes that attach to a broad range of hosts using an adhesive disc on their head that is derived from dorsal fin elements. Research on the adhesive mechanism of remoras has focused primarily on the skeletal components of the disc and their contribution to generating suction and friction. However, the soft tissues of the disc, such as the soft lip surrounding the bony disc and the muscles that control the bony lamellae, have been largely ignored. To understand the sealing mechanism of the disc, it is imperative to understand the tissue morphology and material properties of the soft lip. Here, we show that the soft lip surrounding the remora disc is comprised of discrete multilayered collagen, fat, and elastic tissues which we hypothesize to have specific roles in the viscoelastic sealing mechanism of the remora disc. The central, heavily vascularized fat and collagen layer are infiltrated by strands of elastic tissue and surrounded by crossed-fiber collagen. A newly described jubilee muscle underneath the adhesive disc provides a mechanism for stopping venous return from the disc lip, thereby allowing it to become engorged and create a pressurized fit to the attachment substrate. Thus, the remora lip acts as a vascular hydrostat.     

The relationship between reticulocyte hemoglobin content with C-reactive protein and conventional iron parameters in dialysis patients

Adequate iron stores are a prerequisite for successful erythropoietin (EPO) therapy in hemodialysis (HD) patients. Nevertheless, iron status estimation in HD patients remains problematic, as most parameters are influenced by inflammation. The reticulocyte hemoglobin content (CHr) has recently been proposed as a useful tool in iron status assessment. However, the effect of inflammation on CHr remains unstudied. This study aimed to assess the relationship between CHr with other parameters of iron status as well as with C-reactive protein (CRP). This relationship was studied in all the patients (n=61) at our dialysis unit. CHr was significantly and positively related to transferrin saturation (TS) (rho=0.26; p<0.05) and inversely to the percentage of hypochromic red blood cells (%Hypo) (rho=-0.63; p<0.0001), but not to serum ferritin. CHr was strongly and inversely related to log CRP (rho=-0.50; p<0.0001). Despite the use of maintenance intravenous (i.v.) iron doses and relatively high serum ferritin levels, a large percentage of patients were in a state of functional iron deficiency (%Hypo > or = 6 in 41% of patients and CHr < or = 29 pg in 13% of patients). This percentage was far lower in patients with CRP levels below the detection limit (2 mg/L) (26% and 0%, respectively). In conclusion, CHr is related to both TS and %Hypo, but not to serum ferritin, and is strongly influenced by the presence of inflammation (as determined by CRP). In patients with elevated CRP levels, it is very difficult to reach target iron status levels without exceeding the upper limits for serum ferritin.     

Still the doctor - by a country mile! Preferences for health services in two country towns in north-west New South Wales

OBJECTIVE: To evaluate whether rural consumer preferences for health services have changed over time or vary across communities with different models of health service delivery. DESIGN: Questionnaire survey replicating a 1989 study, with ranking of seven different healthcare services. PARTICIPANTS AND SETTING: Adult occupants from a 20% sample of private residences, in towns and on farms, in the rural shires of Bogan and Warren in north-west New South Wales. The survey was conducted in September 2002. MAIN OUTCOME MEASURES: Rank order of preferences for different healthcare services; preference structure intervals showing relative "distance" between preferences. RESULTS: Response rates were 68% (Nyngan town), 78% (Nyngan farms) and 59% (Warren town). The doctor was the most valued health service in rural communities, followed by the hospital. These preferences occurred regardless of age, sex or place of residence, persisted over time, and were similar for residents of towns with different models of healthcare service provision. CONCLUSIONS: Rural people, both in towns and on farms, rate acute primary healthcare services provided by the doctor and hospital as the two most important services. These preferences have not changed substantially after a decade of restructuring rural health services and reorienting them towards a primary healthcare approach. The stability of rural consumer preferences may reflect a bias towards the status quo.     

The incidence of recurrent venous thromboembolism in carriers of factor V Leiden is related to concomitant thrombophilic disorders

The duration of anticoagulant treatment after a first episode of venous thromboembolism primarily depends on the risk of recurrence. Variability of recurrence rates in factor (F) V Leiden carriers may be due to concomitant thrombophilic disorders. A retrospective study was performed in 329 FV Leiden carriers with a history of venous thromboembolism (262 probands, 67 relatives). The annual rate of first recurrence was estimated in relatives. The contribution of concomitant thrombophilic disorders to the recurrence rate was evaluated in probands and relatives by a nested case--control analysis in 105 matched pairs of carriers either with or without recurrence. The overall annual recurrence rate was 2.3 per 100 patient-years. The adjusted risk of recurrence for concomitant thrombophilic disorders was: 9.1 (1.3-62.8) for the FII mutation; 1.0 (0.2-4.9) for homozygosity for FV Leiden; 1.5 (0.2-9.5) for inherited deficiencies of protein C or S; 1.8 (0.7-4.9) for FVIII coagulant activity (FVIII:C) levels >122%; 5.4 (1.6-18.6) for fasting homocysteine levels >15.2 micromol/l; and 4.4 (1.0-18.7) for loading homocysteine levels >45.8 micromol/l. Of these disorders, only the FII mutation and hyperhomocysteinaemia significantly increased the risk of recurrence in FV Leiden carriers. The estimated recurrence rate ranged from 0.45 per 100 patient--years after a secondary first event in the absence of concomitant disorders to 4.8 per 100 patient-years when a spontaneous first event was combined with concomitant disorders. Our study provides supportive evidence that the incidence of recurrent venous thromboembolism in heterozygous FV Leiden carriers depends on the concomitance of other thrombophilic disorders, in addition to whether the first thrombotic event occurred spontaneously.     

Vaginal and bladder angiosarcoma after therapeutic irradiation

Angiosarcoma involving the female genitourinary tract is a rare soft tissue malignancy of vascular origin. We have described probably the first reported case of postirradiation angiosarcoma involving the vagina and bladder, and have reviewed the existing literature on the subject of angiosarcoma resulting from previous therapeutic irradiation for gynecologic malignancy.     

Evaluation of Alteplase 1 mg for the Restoration of Occluded Central Venous Access Devices in a Tertiary Care Hospital

Background

Alteplase is a recombinant tissue plasminogen activator that is approved for the treatment of occluded central venous access devices (CVADs) and is commercially available as a 2?mg/2?mL dose. Due to the increasing price of 2?mg/2?mL alteplase vials, our institution switched to using a 1?mg/1?mL dose for certain CVADs. The purpose of this study was to evaluate the use, effectiveness, and cost of a maximum of 2 doses of 1?mg/1?mL alteplase for the restoration of an occluded catheter.