A Case of Pfeiffer Syndrome

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia

Characteristics of Nasal Resonance and Perceptual Rating in Prelingual Hearing Impaired Adults

ObjectivesResonance problems in hearing impaired (HI) individuals have been described as aspects of nasality. However, there are limitations in being able to explain the range of resonance problems. Therefore, this study suggests a perceptual rating that will effectively explain the characteristics of resonance problems in HI individuals.MethodsNasalance scores were obtained from 32 subjects in each of HI and normal hearing (NH) groups using a nasometer. The subjects were categorized into groups based on normal and abnormal nasalance ranges. The abnormal nasalance range group was further divided into hyper-, hypo-, and mixed-nasal groups. Nasalance scores were based the individuals performance in a series of passage and syllable tasks. The perceptual rating was evaluated using a newly introduced tool, 'vertical focus of resonance' (VFR), which focuses on the resonance energy in the frontal, throat, pharyngeal and nasal locations.ResultsThe NH group demonstrated a significantly lower nasalance score in the oral coupling and passage tasks than the HI group. Based on the results of nasalance correlation analysis, the HI group showed highly significant correlations between syllable and passage tasks, as contrasted with the NH group. There were significant differences in VFR between the nasalance types in both the NH and the HI groups.ConclusionThe HI hyper-nasal group showed tendencies of velopharyngeal opening, as opposed to the HI hypo-nasal group which showed tendencies of velopharyngeal closure. The HI mixed-nasal group showed inappropriate coordination of velopharyngeal function. In the HI group, the results of VFR showed that the air flow and the resonance energy were not released from the cavity of resonance. The suggested VFR tool explains the focusing characteristics of resonance energy within a continuation of speech sound regardless of the phonetic environment. Therefore, VFR may be a useful tool in explaining the deviant resonance patterns of HI individuals

Factors influencing research engagement: research interest, confidence and experience in an Australian speech-language pathology workforce

Background: Recent initiatives within an Australia public healthcare service have seen a focus on increasing the research capacity of their workforce. One of the key initiatives involves encouraging clinicians to be research generators rather than solely research consumers. As a result, baseline data of current research capacity are essential to determine whether initiatives encouraging clinicians to undertake research have been effective. Speech pathologists have previously been shown to be interested in conducting research within their clinical role; therefore they are well positioned to benefit from such initiatives. The present study examined the current research interest, confidence and experience of speech language pathologists (SLPs) in a public healthcare workforce, as well as factors that predicted clinician research engagement

Современные взгляды на ультразвуковую диагностику внутреннего эндометриоза

Представлен обзор данных о применении различных методик в диагностике эндометриоза. Показаны преимущества и высокая информативность трансвагинальной эхографии. Описаны эхографические критерии различных стадий эндометриоза. Отмечена связь эндометриоза с разными патологиями щитовидной и молочной желез.This paper reviews the data on the use of different techniques of endometriosis diagnosis. The advantages and high informativity of transvaginal ultrasonography are demonstrated. Ultrasonography criteria of different stages of endometriosis are described. Association of endometriosis and thyroid and breast pathology is demonstrated

Guideline for Care of Patients with the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis

This guideline for care of children with craniosynostosis was developed by a national working group with representatives of 11 matrix societies of specialties and the national patients' society. All medical aspects of care for nonsyndromic and syndromic craniosynostosis are included, as well as the social and psychologic impact for the patient and their parents. Managerial aspects are incorporated as well, such as organizing a timely referral to the craniofacial center, requirements for a dedicated craniofacial center, and centralization of this specialized care. The conclusions and recommendations within this document are founded on the available literature, with a grading of the level of evidence, thereby highlighting the areas of care that are in need of high-quality research. The development of this guideline was made possible by an educational grant of the Dutch Order of Medical Specialists. The development of this guideline was supported by an educational grant of the Dutch Order of Medical Specialists

Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review

Mutations in different types of fibroblastic growth factor receptors (FGFRs) have been associated with a variety of phenotype abnormalities, the common ones being Apert, Crouzon and Pfeiffer syndromes. In this study, we present two representative cases having the Apert and Pfeiffer syndromes, respectively, and discuss their clinical presentation, sequel and surgical implications