Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility ...and skin hyperextensibility as per the 2017 International EDS Classification. In 2016, deleterious pathogenic heterozygous variants were identified in
and
, which encode components of the complement system.
Individuals with a clinical suspicion of pEDS were clinically and molecularly assessed through the National EDS Service in London and Sheffield and in genetic services in Austria, Sweden and Australia. Transmission electron microscopy and fibroblast studies were performed in a small subset of patients.
A total of 21 adults from 12 families were clinically and molecularly diagnosed with pEDS, with
variants in all families. The age at molecular diagnosis ranged from 21-73 years (mean 45 years), male: female ratio 5:16. Features of easy bruising (90%), pretibial plaques (81%), skin fragility (71%), joint hypermobility (24%) and vocal changes (38%) were identified as well as leukodystrophy in 89% of those imaged.
This cohort highlights the clinical features of pEDS in adults and contributes several important additional clinical features as well as novel deleterious variants to current knowledge. Hypothetical pathogenic mechanisms which may help to progress understanding and management of pEDS are also discussed.
Background
Many people with schizophrenia or schizophrenia‐like illnesses continue to experience symptoms in spite of medication. In addition to medication, creative therapies, such as art therapy, ...may be helpful. Art therapy allows exploration of the patient's inner world in a non‐threatening way through a therapeutic relationship and the use of art materials. It was mainly developed in adult psychiatric inpatient units and was designed for use with people for whom verbal psychotherapy would be impossible.
Objectives
To review the effects of art therapy as an adjunctive treatment for schizophrenia compared with standard care and other psychosocial interventions.
Search methods
We updated the search of the Cochrane Schizophrenia Group's Register (February 2005), hand searched reference lists and 'Inscape' (the Journal of the British Association of Art Therapists), and contacted relevant authors.
Selection criteria
We included all randomised controlled trials that compared art therapy with standard care or other psychosocial interventions for schizophrenia.
Data collection and analysis
We reliably selected, quality assessed and extracted data from the studies. We excluded data where more than 50% of participants in any group were lost to follow up. For continuous outcomes we calculated a weighted mean difference and its 95% confidence interval. For binary outcomes we calculated a fixed effects risk ratio (RR), its 95% confidence interval (CI) and a number needed to treat (NNT).
Main results
The search identified 61 reports but only two studies (total n=137) met the inclusion criteria. Both compared art therapy plus standard care with standard care alone. More people completed the therapy if allocated to the art therapy group compared with standard care in the short (n=90, 1 RCT, RR 0.97 CI 0.41 to 2.29), medium (n=47, 1 RCT, RR 0.34 CI 0.15 to 0.80) and long term (n=47, 1 RCT, RR 0.96 CI 0.57 to 1.60). Data from one mental state measure (SANS) showed a small but significant difference favouring the art‐therapy group (n=73, 1 RCT, WMD ‐2.3 CI ‐4.10 to ‐0.5). In the short term, a measure of social functioning (SFS) showed no clear difference between groups in endpoint scores (n=70, 1 RCT, WMD 7.20 CI ‐2.53 to 16.93) and quality of life, as measured by the PerQoL, did not indicate effects of art therapy (n=74, 1 RCT, WMD 0.1 CI ‐2.7 to 0.47).
Authors' conclusions
Randomised studies are possible in this field. Further evaluation of the use of art therapy for serious mental illnesses is needed as its benefits or harms remain unclear.
A monoclonal antibody-based enzyme-linked immunosorbent assay (ELISA) was described and evaluated for use as a presumptive screening test for detection of
Campylobacter fetus in bovine preputial ...washing and vaginal mucus samples. A total of 725 diagnostic samples collected in the field and submitted in Clark's transport enrichment medium (TEM) were analyzed. Cultural isolation of
C. fetus was used as the standard for comparison. After incubation of the TEM vials for 4–5 days, fluid was removed for culture and ELISA testing. A sandwich ELISA format was used and the target antigen was
C. fetus lipopolysaccharides (LPS). A rabbit anti-
C. fetus polyclonal antiserum was used as the capture antibody. Murine monoclonal antibodies (MAbs) to
C. fetus serotype A and B LPS core and O-polysaccharides and a goat anti-mouse horseradish peroxidase conjugate were used as detection antibodies. ELISA and culture results for the diagnostic samples were in complete agreement. Seven hundred and eight samples were negative by both tests. All 17 culture positive samples were positive by ELISA with a MAb to LPS core. The ELISA with MAbs to LPS O-polysaccharides detected all culture positive samples with the homologous
C. fetus serotype. Sixty-six preputial wash samples from three known
C. fetus culture positive bulls were also analyzed. Forty-nine of these samples were positive by both ELISA and culture, 16 were positive by ELISA only, and one was negative by both ELISA and culture. The results indicate that this ELISA is useful as a screening test for the detection of
C. fetus in diagnostic samples.
A monoclonal antibody (MAb)-based antigen capture enzyme-linked immunosorbent assay (ELISA) was compared with the routine culture methodology for the detection of Campylobacter fetus subspecies from ...bovine and ovine field samples inoculated into Clark's transport enrichment medium (TEM). The work was a collaboration between two different diagnostic laboratories, one in Canada and the other in England. In both labs, TEM samples were incubated for 4 days at 35 degrees C and then tested by culture and ELISA. The ELISA consisted of initial screening with MAb M1825 against C. fetus subspecies core lipopolysaccharide (LPS). All samples positive on ELISA screening were then retested by ELISA with MAb M1825 and MAbs M1177, M1183, and M1194, which recognize serotype A- and/or serotype B-specific C. fetus subspecies LPS epitopes. The Canadian samples consisted of 1,060 preputial washings from 529 bulls, of which 18 were positive by both culture and ELISA and 1,042 were negative by both methods. The English samples consisted of 321 tissue specimens, mostly stomach contents and placentas, from 190 aborted ovine and bovine fetuses. A total of 262 samples were negative by culture and ELISA, 52 samples were positive by culture and ELISA, and 7 samples were culture negative but ELISA positive. The results for all 70 culture-positive isolates were confirmed by conventional biochemical methods as C. fetus subsp. fetus, with 39 presumptively identified by the ELISA as serotype A and 30 presumptively identified as serotype B and with one sample containing isolates presumptively identified as serotype A and serotype B. A receiver operating characteristic analysis of the combined ELISA data from both countries resulted in an area under the curve of 0.997, with a sensitivity of 100% and a specificity of 99.5% relative to the results of culture. The data confirm that this ELISA method can be used as an excellent test for the screening of field samples in TEM for the presence of C. fetus subspecies.
Medication is the mainstay of treatment for schizophrenia or schizophrenia-like illnesses. Many people, however, continue to experience symptoms in spite of medication. In addition to medication, ...creative therapies, such as art therapy may be helpful. Art therapy allows exploration of the patient's inner world in a non-threatening way through a therapeutic relationship and the use of art materials. It was mainly developed in adult psychiatric inpatient units and was designed for use with people in whom verbal psychotherapy would be impossible.
To review the effects of art therapy as an adjunctive treatment for schizophrenia compared with standard care and other psychosocial interventions.
We searched the Cochrane Schizophrenia Group's Register (May 2002), hand searched reference lists and 'Inscape' (the Journal of the British Association of Art Therapists), and contacted relevant authors.
All randomised controlled trials that compared art therapy with standard care or other psychosocial interventions for schizophrenia.
Studies were reliably selected, quality assessed and data extracted. Data were excluded where more than 50% of participants in any group were lost to follow up. For binary outcomes we calculated a fixed effects risk ratio (RR) and its 95% confidence interval (CI).
The search identified 57 reports but only two studies (total n=137) met the inclusion criteria. Both compared art therapy plus standard care with standard care alone. Fewer people allocated to art therapy left the study before 20 weeks compared with those given standard care alone (n=47, 1 RCT, RR 0.34 CI 0.15 to 0.8, NNT 3 CI 1.5 to 7). Measures of change in mental state, interpersonal relationships and social networking were reported but the data were too problematic to interpret with confidence. Much data was lost due to poor reporting or inappropriate use of scales.
Randomised studies have been proven to be possible in this field. The use of art therapy for serious mental illnesses should continue to be under evaluation as its benefits, or harms, are unclear.
Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype characterized by early ...severe periodontal destruction and connective tissue abnormalities like easy bruising, pretibial haemosiderotic plaques, and joint hypermobility. We report extensive functional studies of 16
variants associated with pEDS by
overexpression studies in HEK293T cells followed by western blot, size exclusion chromatography and surface plasmon resonance analyses. Patient-derived skin fibroblasts were analyzed by western blot and Enzyme-linked Immunosorbent Assay (ELISA). Overexpression of
variants in HEK293T cells revealed that none of the pEDS variants was integrated into the C1 complex but cause extracellular presence of catalytic C1r/C1s activities. Variants showed domain-specific abnormalities of intracellular processing and secretion with preservation of serine protease function in the supernatant. In contrast to C1r wild type, and with the exception of a
missense variant disabling a C1q binding site, pEDS variants had different impact on the cell: retention of C1r fragments inside the cell, secretion of aggregates, or a new C1r cleavage site. Overexpression of
variants in HEK293T as well as western blot analyses of patient fibroblasts showed decreased levels of secreted C1r. Importantly, all available patient fibroblasts exhibited activated C1s and activation of externally added C4 in the supernatant while control cell lines secreted proenzyme C1s and showed no increase in C4 activation. The central elements in the pathogenesis of pEDS seem to be the intracellular activation of C1r and/or C1s, and extracellular presence of activated C1s that independently of microbial triggers can activate the classical complement cascade.
BACKGROUND The appropriateness of psychiatric management decisions following an episode of deliberate self-harm is under-researched. AIM To determine whether the offer of follow-up or psychiatric ...admission by psychiatric doctors is related to known predictors of repetition of self-harm or completed suicide, and recognition of a depressive disorder. METHODS Prospective survey of 158 adult self-harm referrals from the general hospital. RESULTS Offer of aftercare was significantly associated with a definite wish to die at the time of the attempt (P<0.001), Beck's Suicide Intent score (P=0.001), Beck's Hopelessness score (P=0.001), age (P<0.01) and an ICD-10 diagnosis of depression (P<0.001). Psychiatric admission was more likely for men (P=0.01) and accommodation problems (P=0.04) and less likely for relationship problems (P=0.01). CONCLUSIONS Psychiatrists are selectively admitting or following up patients from established high-risk groups. Given the limitations of suicide prevention and mental health resources, their management is appropriate.
Objective: Research suggests that problem-solving therapy may be an effective intervention following self-harm. This study determines the relation between self-harm patients' perceptions of their ...problems and their expressions of hopelessness and suicidal intent.
Method: One hundred fifty patients admitted to a district hospital following self-harm were asked questions about the type and perceived solubility of their problems. In addition, in each case, the patient completed a Beck's hopelessness scale and a psychiatrist completed a Beck's suicidal intent scale.
Results 66% of patients, and more of the males than of the females, recorded at least one problem that they believed to be insoluble; such problems were most often in the area of relationships. Patients who reported insoluble problems experienced higher levels of hopelessness and more suicidal intent. There was significant correlation among the number of insoluble problems, hopelessness, and suicidal intent.
Conclusions: People who undertake self-harm report insoluble relationship problems. When assessing hopelessness and suicidal intent in self-harm patients, clinicians should ask about perception of insoluble problems.
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