The mind-skin connection: A narrative review exploring the link between inflammatory skin diseases and psychological stress.

Inflammatory skin diseases are known to negatively impact patient psychology, with individuals experiencing higher rates of stress and subsequent diminished quality of life, as well as mental health issues including anxiety and depression. Moreover, increased psychological stress has been found to exacerbate existing inflammatory skin diseases. The association between inflammatory skin diseases and psychological stress is a timely topic, and a framework to better understand the relationship between the two that integrates available literature is needed. In this narrative review article, we discuss potential neurobiological mechanisms behind psychological stress due to inflammatory skin diseases, focusing mainly on proinflammatory cytokines in the circulating system (the brain-gut-skin communications) and the default mode network in the brain. We also discuss potential descending pathways from the brain that lead to aggravation of inflammatory skin diseases due to psychological stress, including the central and peripheral hypothalamic-pituitary-adrenal axes, peripheral nerves and the skin barrier function.

Role of collagen and immunostaining for TGF-ß in the clinical and microscopic findings of pyogenic granuloma and peripheral ossifying fibroma.

BACKGROUND: Collagen is a component of Pyogenic Granuloma (PG) and Peripheral Ossifying Fibroma (POF) and performs different functions in these lesions. The objective of this study is to evaluate the role of collagen and immunostaining for Transforming Growth Factor beta (TGF-ß) in the clinical and microscopic findings of PG and POF. MATERIAL AND METHODS: PG (n=20) and POF (n=20) were selected for clinical evaluation (sex, age, localization, size and evolution time) and microscopic analysis (picrosirius red staining for collagen analysis and immunohistochemistry for TGF-ß) performed in the superficial and deep areas of the two lesions. ANOVA/Bonferroni and t-test, Pearson correlation and χ2 were used to compare the sites and parameters analyzed (p<0.05, GraphPad Prism 5.0). RESULTS: The depth of PG presented the highest amount of collagen (p<0.001), and its surface showed the lowest amount of type 1 collagen (yellow-red strong birefringence). Type 1 collagen gradually increased in depth of PG, surface and depth of POF (p<0.001). The number of TGF-ß+ cells was lower on the surface of PG compared with the depth of PG and the two areas of POF (p<0.001). Sex and localization did not affect these parameters, but the profile of collagen and immunostaining for TGF-ß suffered from modifications by the time of evolution and the size of the lesion. CONCLUSIONS: Although PG and POF are reactive gingival lesions, the expression of TGF-ß and its role in collagen showed different biological behaviors in these lesions, suggesting different biological origins for its components.

Oral health profile of Australian children from different immigrant backgrounds.

OBJECTIVES: To profile the oral health of Australian children from different immigrant backgrounds. METHOD: Cross-sectional data for Australian children were obtained from the 2012-14 National Child Oral Health Study (NCOHS). Three categories of immigrant status were created based on parents' country of birth and language (non-immigrant, non-visible immigrant, and visible immigrant). Descriptive analyses reported weighted estimates for experience of dental caries, self-rated oral health, and dental services utilisation separately for children aged 5-9 years and 10-14 years. RESULTS: The sample comprised 10,610 children aged 5-9 years (3,605 from immigrant backgrounds), and 8,741 children aged 10-14 years (3,074 from immigrant backgrounds). Children from non-visible immigrant backgrounds presented worse dental service utilisation and poorer self-rated oral health than children from non-immigrant and visible immigrant families. Greater inequalities in dental caries experience were observed in the 5-9-year-olds. Untreated caries was substantially higher among visible immigrant children aged 5-9 years (38.8%, 95% CI: 35.5-42.3) than non-immigrant (24.9%, 95% CI: 23.4-26.6) and non-visible immigrant children (21.0%, 95% CI: 17.7-24.7). CONCLUSIONS: Australian children from immigrant families constitute a highly heterogeneous group with substantial discrepancies in oral health outcomes.

Associations and discrepancies between global self-ratings of oral health and general health: a Bayesian approach.

OBJECTIVE: To estimate the discrepancies between global ratings of oral health and general health and investigate the factors associated with self-rated oral health (SROH) and self-rated general health (SRGH). METHODS: Data were collected from 502 participants aged 18 to 81 years. A structured questionnaire was used to obtain data regarding sociodemographic characteristics and self-reported conditions. Global self-ratings of oral health and general health were the main outcomes. Discrepancies between self-ratings of oral health and general health were stratified by independent variables. Bayesian ordinal logistic regression models were fitted to estimate the posterior distributions of parameters and 95% credible intervals (95% CrI). RESULTS: The proportion of participants who rated their oral health worse than general health was 28.6% (95% CrI: 24.7-32.3). Negative discrepancies between SROH and SRGH were associated with being men, reporting gingivitis, and lower income. Sex (95% CrI: 1.12-2.25) impacted only on SRGH. Income (SROH - 95% CrI: 1.52-6.40; SRGH - 95% CrI: 1.08-4.56), tertiary education (SROH - 95% CrI: 1.13-2.53; SRGH - 95% CrI: 1.01-2.32), self-reported missing teeth (SROH - 95% CrI: 1.57-3.46; SRGH - 95% CrI: 2.21-4.92), self-reported gingivitis (SROH - 95% CrI: 1.10-2.40; SRGH - 95% CrI: 1.71-3.82), and self-reported chronic health problem (SROH - 95% CrI: 1.38-3.08; SRGH - 95% CrI: 1.61-3.59) impacted on both outcomes. CONCLUSIONS: Substantial discrepancies between self-rated oral health and self-rated general health were found and were associated with being male, reporting gingivitis, and having lower income.

Morphology and molecular phylogeny of Chauhanellus Bychowsky & Nagibina, 1969 (Monogenoidea) parasitizing marine catfish (Ariidae) from the Atlantic coast of South America: a new species, supplementary taxonomic information and new insights.

In this study, a new dactylogyrid species is described from the gills of two ariid fish species of the Brazilian coast, Genidens barbus and Genidens genidens, by combining morphological characters with partial 18S rDNA sequences. The new species can be distinguished from its congeners by the following morphological characteristics: a male copulatory organ (MCO), a coiled tubular shaft of around one counterclockwise ring, base with a sclerotized cap; MCO with tapered distal region; a T-shaped accessory piece; a vagina, a cup-shaped vaginal vestibule, slightly sclerotized; and a pharynx comprising a muscular, glandular bulb. Supplementary taxonomic data for Chauhanellus velum from Sciades couma (type-host) are also presented and new 18S rDNA sequences of Chauhanellus spp. from other ariid fish from South America are provided. Phylogenetic analyses based on partial 18S rDNA gene sequences placed Chauhanellus riograndinensis n. sp. and Chauhanellus velum as two early divergent lineages within Chauhanellus from South America. Finally, a way to test the monophyly of Chauhanellus and Hamatopeduncularia is also discussed, which may be useful for future studies.

Monogenoidean parasites of Acestrorhynchus falcatus (Characiformes: Acestrorhynchidae) from Pará, Brazil: species of Diaphorocleidus and Rhinoxenoides n. gen. (Monogenoidea: Dactylogyridae).

Two new species of Diaphorocleidus and one new species of Rhinoxenoides n. gen. are described from the gills of Acestrorhynchus falcatus (Bloch) from rivers of north-eastern Pará, Brazil. Diaphorocleidus jaymedeloyolai n. sp. is characterized by a male copulatory organ (MCO) possessing three counterclockwise coils; similar anchors with subtriangular superficial roots; a ventral bar with posteromedial projection; and hooks of pairs 1, 4 and 7 approximately three times longer than hook pair 5. Diaphorocleidus sclerocolpus n. sp. differs from its congeners by a dual-branched accessory piece articulated with the MCO and a sclerotized tubular vagina with a bottle-shaped vestibule. Rhinoxenoides n. gen. is proposed and is characterized by possessing: MCO sclerotized with clockwise coils; an accessory piece articulated to the base of MCO; a sinistroventral vaginal aperture; ventral anchor with conspicuous roots; dorsal anchor with superficial root five times longer than deep root; and absence of dorsal bar. The proposal of Rhinoxenoides n. gen. is also supported by its phylogenetic relationship with Protorhinoxenus prochilodi and species of Rhinoxenus, using 16 morphological characters, which resulted in the following hypothesis of sister-group relationships: Rhinoxenoides n. gen. [Protorhinoxenus (Rhinoxenus curimatae (R. nyttus (R. bulbovaginatus (R. guianensis, R. piranhus, R. euryxenus (R. arietinus, R. anaclaudiae)))))].

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterized by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report 4 additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN, which include the presence of a pseudo-gene and copy number variants.

Hippocampal subfield volumes in mood disorders.

Volume reduction and shape abnormality of the hippocampus have been associated with mood disorders. However, the hippocampus is not a uniform structure and consists of several subfields, such as the cornu ammonis (CA) subfields CA1-4, the dentate gyrus (DG) including a granule cell layer (GCL) and a molecular layer (ML) that continuously crosses adjacent subiculum (Sub) and CA fields. It is known that cellular and molecular mechanisms associated with mood disorders may be localized to specific hippocampal subfields. Thus, it is necessary to investigate the link between the in vivo hippocampal subfield volumes and specific mood disorders, such as bipolar disorder (BD) and major depressive disorder (MDD). In the present study, we used a state-of-the-art hippocampal segmentation approach, and we found that patients with BD had reduced volumes of hippocampal subfields, specifically in the left CA4, GCL, ML and both sides of the hippocampal tail, compared with healthy subjects and patients with MDD. The volume reduction was especially severe in patients with bipolar I disorder (BD-I). We also demonstrated that hippocampal subfield volume reduction was associated with the progression of the illness. For patients with BD-I, the volumes of the right CA1, ML and Sub decreased as the illness duration increased, and the volumes of both sides of the CA2/3, CA4 and hippocampal tail had negative correlations with the number of manic episodes. These results indicated that among the mood disorders the hippocampal subfields were more affected in BD-I compared with BD-II and MDD, and manic episodes had focused progressive effect on the CA2/3 and CA4 and hippocampal tail.

Prevalence of carotid artery calcifications among 2,500 digital panoramic radiographs of an adult Brazilian population.

BACKGROUND: The aim of the present study was to analyze the epidemiological data of digital panoramic radiographs revealing suggestive images of carotid artery calcifications (CAC) from a Northeast Brazilian population. MATERIAL AND METHODS: A cross-sectional retrospective study was conducted with 2,500 digital panoramic radiographs obtained from a single imaging reference center in Northeast Brazil. Images from individuals of both sexes and older than 18 years were included and those that did not cover the region of cervical vertebrae or presented low radiographic quality were excluded. Data were analyzed regarding prevalence, location (bilateral, right or left), sex, and age using the Chi-square test at the significance level of 5%. RESULTS: An amount of 96 (4%) patients presented suggestive images of CAC. The female sex (p=0.003) and individuals aged up to 70 years (p=0.002) were statically significant. 40.4% were found bilaterally, 37.6% on the right side (p<0.001) and 22% on the left side. CONCLUSIONS: In conclusion, this study showed a low prevalence of suggestive images of CAC in digital panoramic radiographs from a Northeast Brazilian population. It was observed a higher prevalence of CAC associated with female sex, older patients, and right side location.

Subgingival bacterial community profiles in HIV-infected Brazilian adults with chronic periodontitis.

BACKGROUND AND OBJECTIVE: To compare the subgingival microbial diversity between non-HIV-infected and HIV-infected individuals with chronic periodontitis using denaturing gradient gel electrophoresis (DGGE). MATERIAL AND METHODS: Thirty-two patients were selected: 11 were HIV-infected and 21 were non-HIV-infected, and all had chronic periodontitis. Periodontal measurements included probing depth, clinical attachment level, visible supragingival biofilm and bleeding on probing. Subgingival biofilm samples were collected from periodontal sites (50% with probing depth ≤ 4 mm and 50% with probing depth ≥ 5 mm) and whole-genomic-amplified DNA was obtained. The DNA samples were subjected to amplification of a 16S rRNA gene fragment using universal bacterial primers, followed by DGGE analysis of the amplified gene sequences. RESULTS: The non-HIV-infected group presented higher mean full-mouth visible supragingival biofilm (p = 0.004), bleeding on probing (p = 0.006), probing depth (p < 0.001) and clinical attachment level (p = 0.001) in comparison with the HIV-infected group. DGGE analysis revealed 81 distinct bands from all 33 individuals. Banding profiles revealed a higher diversity of the bacterial communities in the subgingival biofilm of HIV-infected patients with chronic periodontitis. Moreover, cluster and principal component analyses demonstrated that the bacterial community profiles differed between these two conditions. High interindividual and intra-individual variability in banding profiles were observed for both groups. CONCLUSION: HIV-infected patients with chronic periodontitis present greater subgingival microbial diversity. In addition, the bacterial communities associated with HIV-infected and non-HIV-infected individuals are different in structure.

Identifying neuroanatomical signatures of anorexia nervosa: a multivariate machine learning approach.

BACKGROUND: There are currently no neuroanatomical biomarkers of anorexia nervosa (AN) available to make clinical inferences at an individual subject level. We present results of a multivariate machine learning (ML) approach utilizing structural neuroanatomical scan data to differentiate AN patients from matched healthy controls at an individual subject level. METHOD: Structural neuroimaging scans were acquired from 15 female patients with AN (age = 20, s.d. = 4 years) and 15 demographically matched female controls (age = 22, s.d. = 3 years). Neuroanatomical volumes were extracted using the FreeSurfer software and input into the Least Absolute Shrinkage and Selection Operator (LASSO) multivariate ML algorithm. LASSO was 'trained' to identify 'novel' individual subjects as either AN patients or healthy controls. Furthermore, the model estimated the probability that an individual subject belonged to the AN group based on an individual scan. RESULTS: The model correctly predicted 25 out of 30 subjects, translating into 83.3% accuracy (sensitivity 86.7%, specificity 80.0%) (p < 0.001; χ 2 test). Six neuroanatomical regions (cerebellum white matter, choroid plexus, putamen, accumbens, the diencephalon and the third ventricle) were found to be relevant in distinguishing individual AN patients from healthy controls. The predicted probabilities showed a linear relationship with drive for thinness clinical scores (r = 0.52, p < 0.005) and with body mass index (BMI) (r = -0.45, p = 0.01). CONCLUSIONS: The model achieved a good predictive accuracy and drive for thinness showed a strong neuroanatomical signature. These results indicate that neuroimaging scans coupled with ML techniques have the potential to provide information at an individual subject level that might be relevant to clinical outcomes.

Changes in the corpus callosum in women with late-stage bipolar disorder.

OBJECTIVE: This study investigated the differences in corpus callosum (CC) volumes between women with early-stage and late-stage bipolar I (BP I) disorder using the criteria previously described in the literature. METHOD: We compared women with early- and late-stage BP I using criteria described in the Staging Systems Task Force Report of the International Society for Bipolar Disorders. We included 20 patients with early stage and 21 patients with late-stage BP I and a group of 25 healthy controls. Patients and controls underwent structural magnetic resonance imaging. Information on the clinical features of bipolar disorder was collected using a standardized questionnaire. Anatomical volumes of five regions of CC were compared between the three groups. RESULTS: Women with late-stage BP I disorder had reduced posterior CC volumes compared with early-stage bipolar I patients and controls (F = 6.05; P = 0.004). The difference was significant after controlling for age, comorbidity with post-traumatic stress disorder, psychotic symptoms during mood episodes, and current use of medication. CONCLUSION: The posterior CC was significantly decreased in volume in women with late-stage bipolar disorder. These findings suggest that CC may be an anatomical target of neuroprogression in the course of bipolar disorder in women.

Illness-course modulates suicidality-related prefrontal gray matter reduction in women with bipolar disorder.

OBJECTIVE: Explore interrelationships between suicide attempt history (Objective 1) or suicide attempt severity (Objective 2) with prefrontal cortex gray matter (PFCGM ) volume and illness-course in patients with bipolar disorder (BD). METHOD: Ninety-three women with BD-I or -II diagnosis (51 with and 42 without suicide attempt history) underwent structural MRI and filled out questionnaires. Measured were GM volumes of 11 PFC regions, BD illness-course, and attempt history and severity. Effects were examined with repeated measures GLM or logit analyses. RESULTS: Objective 1: Attempt history was associated with increased trait impulsivity and aggression, and higher prevalence of BD-I, past drug use disorder, and past psychiatric hospitalization. PFCGM volume was lower in patients with than without attempt history in those with past psychiatric hospitalization. PFCGM volume was higher in patients with than without attempt history in those without hospitalization. Higher trait aggression predicted attempt history. Objective 2: Increased frontal pole volume and younger age at first hospitalization predicted many suicide attempts. CONCLUSION: Attempt history in patients with BD related to PFCGM volume reduction or increase. Volume modulation by psychiatric hospitalization could reflect effects of illness-course or care. Attempt severity was not related to volume reduction. Research on suicidality-brain relationships should include illness-course and attempt severity measures.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Triple Jeopardy in Oral Health: Additive Effects of Immigrant Status, Education, and Neighborhood.

PURPOSE: To estimate the additive effects of parent's nativity status/language spoken at country of birth, education, and area-level socioeconomic status (SES) on untreated dental caries among children aged 5 to 9 y in Australia. METHODS: Cross-sectional population-based data were obtained from the 2014 National Child Oral Health Study (N = 12,140). Indicators of social position used to explore additive effects on dental caries included nativity status, language, university degree, and neighborhood socioeconomic level. Multiple-way interactions were examined, and departure from additivity resulting from 2- and 3-way interactions were estimated as relative excess risk due to interaction (RERI). RESULTS: Children marginalized across multiple layers of disadvantage had substantially higher frequencies of dental caries compared with children in the most advantaged category. RERI for the 3-way interaction between immigrant status, education, and neighborhood SES was negative (RERI3: -0.14; 95% confidence interval [CI]: -1.68, 1.40). When operationalizing language, education, and neighborhood SES, the joint effect of the 3 marginalized positions was additive (RERI3: 0.43; 95% CI: -2.08, 2.95). CONCLUSION: Children marginalized across multiple intersecting axes of disadvantage bear the greatest burden of dental caries, with frequencies surpassing the cumulative effect of each social position alone. Findings emphasize the need to account for intersecting inequities and their oral health effects among children with immigrant backgrounds. KNOWLEDGE TRANSFER STATEMENT: Our analysis underscores the necessity for policies and public health strategies targeting dental caries-related inequities to comprehensively account for various indicators of social disadvantage, particularly encompassing language proficiency, educational attainment, and neighborhood socioeconomic status. Within the intricate interplay of these factors, we identify a vulnerable subgroup comprising children with the highest prevalence of dental decay. Therefore, prioritizing this specific demographic should be the focal point of policies and public health initiatives aimed at fostering equitable oral health outcomes.

New structural brain imaging endophenotype in bipolar disorder.

Neuroimaging studies suggest anterior-limbic structural brain abnormalities in patients with bipolar disorder (BD), but few studies have shown these abnormalities in unaffected but genetically liable family members. In this study, we report morphometric correlates of genetic risk for BD using voxel-based morphometry. In 35 BD type I (BD-I) patients, 20 unaffected first-degree relatives (UAR) of BD patients and 40 healthy control subjects underwent 3 T magnetic resonance scanner imaging. Preprocessing of images used DARTEL (diffeomorphic anatomical registration through exponentiated lie algebra) for voxel-based morphometry in SPM8 (Wellcome Department of Imaging Neuroscience, London, UK). The whole-brain analysis revealed that the gray matter (GM) volumes of the left anterior insula and right inferior frontal gyrus showed a significant main effect of diagnosis. Multiple comparison analysis showed that the BD-I patients and the UAR subjects had smaller left anterior insular GM volumes compared with the healthy subjects, the BD-I patients had smaller right inferior frontal gyrus compared with the healthy subjects. For white matter (WM) volumes, there was a significant main effect of diagnosis for medial frontal gyrus. The UAR subjects had smaller right medial frontal WM volumes compared with the healthy subjects. These findings suggest that morphometric brain abnormalities of the anterior-limbic neural substrate are associated with family history of BD, which may give insight into the pathophysiology of BD, and be a potential candidate as a morphological endophenotype of BD.

Immigrants experience oral health care inequity: findings from Australia's National Study of Adult Oral Health.

BACKGROUND: Oral health service utilization contributes to positive oral health and indicates realised access to services. The study aimed to describe patterns of oral health service use among overseas-born and Australian-born populations and assess equity in access to services. METHODS: The study used data from Australia's National Study of Adult Oral Health 2017-2018 and was guided by the Aday and Andersen framework of access to health and Australia's National Oral Health Plan. Descriptive analyses of service use by perceived need, enabling and predisposing factors were compared between four groups: Australian-born and overseas-born who mainly speak English and Australian-born and overseas-born who mainly speak a language other than English. RESULTS: Overseas-born who mainly speak a language other than English experienced greater oral health care inequity, largely driven by financial difficulty (avoided care due to cost: 42% vs 27%-28%; avoided/delayed visiting due to cost: 48% vs. 37%-38%; cost prevented treatment: 32% vs. 18%-24%). The most favourable visiting patterns were among the Australian-born population who speak a language other than English. CONCLUSIONS: The study shows clear inequity experienced among immigrants in accessibility as measured through indicators of oral health care utilization and factors related to inequity, such as the ability to pay for services.

A novel three-dimensional dynamic anorectal ultrasonography technique for the assessment of perineal descent, compared with defaecography.

AIM: The purpose of the study was to describe a novel three-dimensional dynamic anorectal ultrasonography technique (dynamic 3-DAUS) for assessment of perineal descent (PD) and establishment of normal range values, comparing it with defaecography. Secondarily, the study compares the ability of the two techniques to identify various pelvic floor dysfunctions. METHOD: A prospective study was undertaken in 29 women (mean age 43 years) with obstructed defecation disorder. All patients underwent defaecography and dynamic 3-DAUS and the results were compared. Lee kappa coefficients (K) were used. RESULTS: On defaecography, PD > 3 cm was detected in 12 patients. On dynamic 3-DAUS, 10 of these patients had PD > 2.5 cm. Seventeen had normal PD on defaecography and PD ≤ 2.5 cm on dynamic 3-DAUS (K 0.85). Normal relaxation was observed in 10 patients and anismus in 14 with both techniques (K 0.65). Both techniques identified five patients without rectocele, two with grade I rectocele (K 0.89 and 1.00, respectively) and 10 with grade II and nine with grade III (K 0.72 and 0.77, respectively). Rectal intussusception was identified in six patients on defaecography. These were confirmed on dynamic 3-DAUS in addition to the identification of another seven cases indicating moderate agreement (K 0.46). Enterocele/sigmoidocele grade III was identified in one patient with both techniques, indicating substantial agreement (K 0.65). CONCLUSION: Dynamic 3-DAUS was shown to be a reliable technique for the assessment of PD and pelvic floor dysfunctions, identifying all disorders and confirming findings from defaecography.

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.