Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance

The aim of the study was to investigate the prevalence and mechanisms of development of carnitine deficiency in patients with lysinuric protein intolerance (LPI). In our cohort of 37 Finnish patients with LPI, 8 (8-52 years of age) have been diagnosed with hypocarnitinemia. Their free and total serum carnitine levels, acyl carnitine profiles, renal function, diet, and medication were compared with the data from 8 age- and sex-matched patients with LPI not treated with carnitine supplementation. In patients with LPI, hypocarnitinemia was strongly associated with female sex, renal insufficiency, and the use of ammonia-scavenging drugs. Of the 8 hypocarnitinemic patients, 3 complained of muscle weakness, and their symptoms disappeared during carnitine supplementation. Oral lysine supplementation did not correct hypocarnitinemia in our patients. The patients with LPI are at considerable risk for carnitine deficiency. Supplementation of hypocarnitinemic LPI patients with oral L-carnitine improved serum total carnitine values, but the ratio of free and total carnitine remained subnormal in all supplemented patients except one. Furthermore, decreased ratio of free and total serum carnitine was common even in LPI patients with normal total serum carnitine concentration.     

End-of-life expectations and experiences among nursing home patients and their relatives—A synthesis of qualitative studies

Objective

Synthesize research about patients’ and relatives’ expectations and experiences on how doctors can improve end-of-life care in nursing homes.

Methods

We systematically searched qualitative studies in English in seven databases (Medline, Embase, PsycINFO, CINAHL, Ageline, Cochrane Systematic Reviews and Cochrane Trials). We included 14 publications in the analysis with meta-ethnography.

Results

Patients and families emphasized the importance of health personnel anticipating illness trajectories and recognizing the information and palliation needed. Family members who became proxy decision-makers reported uncertainty and distress when guidance from health personnel was lacking. They worried about staff shortage and emphasized doctor availability. Relatives and health personnel seldom recognized patients’ ability to consent, and patients’ preferences were not always recognized.

Conclusion

Nursing home patients and their relatives wanted doctors more involved in end-of-life care. They expected doctors to acknowledge their preferences and provide guidance and symptom relief.

Practice implications

High-quality end-of-life care in nursing homes relies on organization, funding and skilled staff, including available doctors who are able to recognize illness trajectories and perform individualized Advance Care Planning.     

Reactions and Attitudes to Postpartal Mental Symptoms in a Rural Community

We examined the reactions of population, social and health care professionals and local politicians in the context of a narrative case of a newborn and her mother evincing postpartal mental symptoms. The results of this postal questionnaire study indicated that in assessing the urgent need for support, a significant positive association prevailed in the resident cohort with female gender, age over 50 years or being a parent. Professionals and politicians estimated that appropriate care and access to care would be obtained in the maternity and child health clinic in the local health centre. Residents would contact relatives rather than social and health care professionals. A future challenge is to promote the knowledge and sensitivity of the general population in recognizing mental symptoms in mothers with small children. Adequate information is also called for regarding local services and means of access to care.     

Associations between thoracic kyphosis,head posture,and craniofacial morphology in young adults

The aim of the present study was to investigate associations between thoracic hyper- and hypokyphosis, head posture, and craniofacial morphology in young adults. Using forward bending test and spinal pantographic measurements, 31 subjects, 16 with thoracic hyper- and 15 with hypokyphosis, were selected from a population-based cohort of 430 young adults. Lateral roentgen-cephalograms were taken in natural head posture and craniofacial and postural angular measurements were calculated. Any statistically significant differences between the groups - thoracic hyperkyphosis and thoracic hypokyphosis - were analysed using Student's t test. Subjects with thoracic hyperkyphosis had a larger atlantocervical angle (At/CVT, P < 0.01) than subjects with thoracic hypokyphosis. However, head position (NSL/VER)was similar in both groups, probably owing to the visual perception control of craniovertical relation. There was no statistically significant difference in craniofacial morphology between the groups.     

Oral and salivary parameters in patients with rheumatic diseases

We studied the presence of secondary Sjögren's syndrome (SS) and the composition of saliva, prevalence of oral pathogens, periodontitis, mouth mucosa, and teeth in patients with various rheumatic diseases and in healthy controls. The hypothesis was that different rheumatic diseases might cause differences in oral health characteristics because of the liability of secondary SS in the patients. The study involved 77 patients and 77 age-matched and sex-matched controls. Twenty patients were suffering from spondylarthropathy (SPA), 18 from ankylosing spondylitis (AS), 24 from rheumatoid arthritis (RA), and 15 from mixed connective tissue disease (MCTD). Clinical and radiographic oral health status was recorded and salivary flow rates were measured. Selected salivary proteins and immunoglobulins were analysed by routine methods. Minor salivary gland biopsy samples were taken from the patients for assessment of inflammatory focus scores. Differences between patients and controls and in between the different rheumatic diseases were analysed statistically. Secondary SS was diagnosed in 39% (30/77) of the patients. A severe periodontal condition (community periodontal index of treatment needs score 3 or 4) occurred in 58% (45/77) of the rheumatic patients compared with only 26% (20/77) of the controls (p<0.0001). The severity of focal sialadenitis (focus score) correlated significant with salivary IgA, IgG, and IgM concentrations. Salivary albumin, total protein, IgG, and IgM concentrations were higher in all patient groups than in the controls. The number of patients with low salivary flow rates was higher in all patient groups compared to controls. Oral yeast counts were significantly higher in the patients than in the controls (p<0.001). In a subgroup analysis, patients with SS had higher values for salivary IgA and IgM than patients without SS. Dental caries and oral lactobacilli were more frequent in patients with SS, but SS was not associated with periodontitis. No major differences were noted in other salivary biochemical parameters between these two groups. Patients with rheumatic diseases, irrespective of specific diagnosis, thus had various alterations in salivary flow and composition and oral health. The findings may reflect the autoimmune inflammation of the salivary glands frequently observed in these patients.