FreDESS: a clinical tool for perceptual evaluation of stuttering.

Aim: Stuttering is a communication disorder that involves both manifest speech disfluencies and associated symptoms. The purpose of the present study was to introduce an easily administered and ecologically valid assessment tool designed for perceptual evaluation of stuttered speech, FreDESS (frequency of stuttering events, duration of events, effort, secondary behaviours, and severity). More specifically, we wanted to study its reliability and validity.

"I Just Want People to Think I'm Normal": An Interview Study of Young Swedish Women With Covert Stuttering.

Purpose: Research indicates that there is a tendency for females who stutter, more often than males, to use coping strategies that involve covering their stutter, for example, by avoiding situations that require verbal participation. The aim of the study is to increase knowledge about how covert stuttering develops and its impact on self-image and quality of life for women who stutter.

Method: Eleven young women who stutter covertly were interviewed, and data were subjected to qualitative content analysis.

A Cross-Sectional Investigation of the Impact of Stuttering on Swedish Females and Males in Childhood, Adolescence, and Young Adulthood.

Purpose: We aimed to cross-sectionally describe the impact of stuttering on persons who stutter (PWS): children, adolescents, and young adults. Based on previous research on PWS and psychosocial health in the general population, we hypothesized that (a) the adverse impact of stuttering in PWS would be larger among adolescents than children and young adults and that (b) females, especially adolescent females, would report being more adversely impacted by their stuttering than males.

Method: We pooled samples of Swedish PWS, obtaining 162 individuals (75 females and 87 males), aged 7-30 years.

Effects of the scope of practice on family physicians: a systematic review.

Background: Family medicine is a branch of medicine that manages common and long-term illnesses in children and adults. Family physicians in particular play a major role and their scope of practice is expected to impact patient and population. However, little is known about its impact on physicians.

Larger reported impact of stuttering in teenage females, compared to males - A comparison of teenagers' result on Overall Assessment of the Speaker's Experience of Stuttering (OASES).

Purpose: The aim of this cross-sectional study was to explore the impact and experience of stuttering, and attitude to communication for female and male teenagers who stutter (TWS) in comparison with teenagers with no stutter (TWNS).

Methods: The Swedish version of the Overall Assessment of the Speaker's Experience of Stuttering (OASES-T-S), was administered to 56 TWS, 13-17 years old (26 females, 30 males). An adapted version of OASES, Attitude to Speech and Communication (ASC), was administered to 233 TWNS.

Retinal horizontal cells of goldfish (Carassius auratus) display subtype-specific differences in spontaneous action potentials in situ.

Horizontal cells (HCs) are neurons of the outer retina, which provide inhibitory feedback onto photoreceptors and contribute to image processing. HCs in teleosts are classified into four subtypes (H1-H4), each having different roles: H1-H3 feed back onto different sets of cones, H4 feed back onto rods, and only H1 store and release the inhibitory neurotransmitter, γ-aminobutyric acid (GABA). Dissociated HCs exhibit spontaneous Ca -based action potentials (APs), yet it is unclear if APs occur in situ, or if all subtypes exhibit APs.

"They heard our voice!" patient engagement councils in community-based primary care practices: a participatory action research pilot study.

Background: Patient engagement could improve the quality of primary care practices. However, we know little about effective patient engagement strategies. We aimed to assess the acceptability and feasibility of embedding advisory councils of clinicians, managers, patients and caregivers to conduct patient-oriented quality improvement projects in primary care practices.

Swedish outcomes of the Overall Assessment of the Speaker's Experience of Stuttering in an international perspective.

The purpose of the present project was to translate the Overall Assessment of the Speaker's Experience of Stuttering (OASES) to Swedish, and to compare the results with available international data. The Swedish versions of OASES-A, OASES-T and OASES-S were administered to 80 adults, 27 teenagers and 32 children who stutter, respectively. The overall impact scores and the impact scores for each of the four sections of the instrument were analyzed in relation to other studies involving the OASES.

How to engage patients in research and quality improvement in community-based primary care settings: protocol for a participatory action research pilot study.

Plain English Summary: Making primary care clinics more patient-centered is key to improving patients' experience of care. If patients themselves were engaged in helping define priorities and suggesting quality improvements in the clinic, care would respond better to their needs. However, patient engagement is a new phenomenon, particularly in community based primary care clinics.

Decisional needs assessment of patients with complex care needs in primary care: a participatory systematic mixed studies review protocol.

Introduction: Patients with complex care needs (PCCNs) often suffer from combinations of multiple chronic conditions, mental health problems, drug interactions and social vulnerability, which can lead to healthcare services overuse, underuse or misuse. Typically, PCCNs face interactional issues and unmet decisional needs regarding possible options in a cascade of interrelated decisions involving different stakeholders (themselves, their families, their caregivers, their healthcare practitioners). Gaps in knowledge, values clarification and social support in situations where options need to be deliberated hamper effective decision support interventions.

Systems Genetics Identifies a Novel Regulatory Domain of Amylose Synthesis.

A deeper understanding of the regulation of starch biosynthesis in rice (Oryza sativa) endosperm is crucial in tailoring digestibility without sacrificing grain quality. In this study, significant association peaks on chromosomes 6 and 7 were identified through a genomewide association study (GWAS) of debranched starch structure from grains of a 320 indica rice diversity panel using genotyping data from the high-density rice array. A systems genetics approach that interrelates starch structure data from GWAS to functional pathways from a gene regulatory network identified known genes with high correlation to the proportion of amylose and amylopectin.

Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features.

Introduction: Synovial sarcoma (SynSa) is an aggressive mesenchymal tumor, comprising approximately 10% of all soft tissue sarcomas. Over half of SynSa patients develop metastasis or local recurrence, but the underlying molecular mechanisms of the aggressive clinical behavior remain poorly characterized.

Materials And Methods: Sixty-four frozen tumor specimens from 54 SynSa patients were subjected to array comparative genomic hybridization (aCGH) and gene expression profiling.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Purpose: "Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1.

Methods: We performed germline NF1, SPRED1, and GNAS1 (exon 8) mutation testing on patients with Jaffe-Campanacci syndrome or Jaffe-Campanacci syndrome-related features.

[The role of radiation and non-radiation factors in the development and progression of acute leukemia in children].

At 278 ALL and AML patients the kind of hereditary pathology in the family; clinikal-laboratory features and a course of acute leukemia and terms of longevity of children were studied. Degree of integrated pollution of territory (air, water, soil) by heavy metals and radionuclides and also the irradiation doses have been considered. Results which have been received testify about the certain contribution of genetic components and adverse factors of environment in of development of acute leukemia and their course at children.

Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases.

Synovial sarcoma (SS) is an aggressive type of tumor, comprising approximately 10 % of soft tissue sarcomas. Over 90 % of SS cases are characterized by the t(X;18)(p11.2;q11.

Perineural spread of endometriosis along the obturator nerve into the adductor thigh compartment.

We report the case of a young woman with recurrent unilateral hip pain. A polylobular cystic mass was found in the right adductor space. Magnetic resonance imaging (MRI) revealed a polynodular mass migrating from the intrapelvic region along the obturator nerve.

Administration of 24-h intravenous infusions of trabectedin in ambulatory patients with mesenchymal tumors via disposable elastomeric pumps: an effective and patient-friendly palliative treatment option.

Background: Patients with progressive mesenchymal tumours after standard chemotherapy have poor outcome. Trabectedin is approved in Europe as 24-h intravenous (i.v.

Longitudinal cortical split sign as a potential diagnostic feature for cortical osteitis.

Septic cortical osteitis is a rare but distinct type of bone infection that is characterized as a hematogenously seeded infection predominantly or exclusively limited to the cortex. Diagnosis is difficult and often delayed. Combination of clinical and laboratory findings together with the typical radiological findings consisting of vertically orientated cortical osteolysis, the 'cortical split sign' and the predominantly cortical disruption at the periosteal side of the cortex may lead to the correct diagnosis.

The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.

Subungual exostosis is a benign bone- and cartilage-forming tumor known to harbor a pathognomonic t(X;6)(q22;q13-14). Using global gene expression analysis and quantitative real-time PCR, we could show that this translocation results in increased expression of the IRS4 gene, presumably due to disruption and/or exchange of regulatory sequences with the translocation partner, the COL12A1 gene. A corresponding deregulation at the protein level could be demonstrated in primary cell cultures using a combination of fluorescence in situ hybridization and immunostaining.

A brown tumor after biliopancreatic diversion for severe obesity.

A case of a brown tumor due to iatrogenic malabsorption following biliopancreatic diversion (BPD) is presented. A 52 year old women with a history of BPD 2 years before was referred to orthopedic surgery because of a painful lytic lesion of the left ankle. A bone biopsy revealed a giant cell tumor compatible with the diagnosis of a brown tumor.

Radiation-induced sarcoma: analysis of 46 cases.

A retrospective analysis was performed of 46 cases of sarcoma treated in our institution between 1989 and 2007 that occurred in a previously irradiated area. Eight male and 38 female patients had received radiotherapy, mainly for breast cancer and genitourinary tumours. The interval between irradiation and the diagnosis of sarcoma ranged from 1 to 54 years (median 15 y).

Metastasis from renal cell carcinoma presenting as osteolysis in total hip arthroplasty: a case report.

We report a case of a pelvic metastasis from a renal carcinoma in association with a total hip arthroplasty. Mistakenly diagnosing such lesion as a granulomatous osteolytic foreign body reaction due to polyethylene debris may lead to devastating and uncontrollable haemorrhage during revision arthroplasty.

Ewing's sarcoma: imaging features.

Aim: To define an imaging prototype of Ewing's sarcoma (ES).

Materials And Methods: Sixty-four patients with a histopathologically and/or genetically proven diagnosis of ES were analyzed for clinical parameters (age, gender and location), radiographic and CT appearance (distribution, matrix, margins, periosteal reaction, articular extension, cortical reaction and the presence of a pathologic fracture). Size, local extension, signal intensity, degree and pattern of enhancement, and the presence of skip metastases were evaluated on MRI.

Postradiation soft tissue sarcoma of the shoulder: a case report.

We present a case of a postradiation soft tissue sarcoma of the shoulder in a patient with a hemiarthroplasty of the shoulder. Initially the patient was treated for an infection of the hemiarthroplasty but subsequent removal of the loose prosthesis and biopsy revealed the presence of a malignant tumour.