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排序方式: 共有177条查询结果,搜索用时 46 毫秒
91.
James B. Caress MD FAAN James A. Lewis MD Clark W. Pinyan MD MPH Victoria H. Lawson MD 《Muscle & nerve》2019,60(1):62-66
Introduction: Charcot-Marie-Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial spasm (HFS) and trigeminal neuralgia (TN) have been published. Methods: Sixty-three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero (MPZ) gene. Results: Of 27 individuals with the G163R mutation in MPZ, 10 had HFS or TN. Co-existing HFS and TN were found in 3 of these and 4 had bilateral HFS or TN. Conclusions: This kindred exhibits a distinct CMT phenotype characterized by the development of HFS or TN decades after clinical signs of hereditary neuropathy are manifest. Muscle Nerve, 2019 相似文献
92.
Laura Aviaja Rudkjobing Ann-Louise Esserlind Jes Olesen 《The journal of headache and pain》2012,13(7):505-511
Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies in other diseases and have interviewed three experts in the field of genetics and complex traits. The experts’ ideas suggest that the preferred NGS approach depends on the expected effect size and the frequency of the variants of interest. Family-specific variants can be found by sequencing a small number of individuals, while a large number of unrelated cases are needed to find common and rare variants. NGS is currently hampered by high cost and technical problems concurrent with analyzing large amounts of data generated, especially by whole genome sequencing. As genome-wide association chips, exome sequencing and whole genome sequencing gradually become more affordable, these approaches will be used on a larger scale. This may reveal new risk variants in migraine which may offer previously unsuspected biological insights. 相似文献
93.
94.
Ann-Louise S. Silver 《Contemporary psychoanalysis》2013,49(4):603-604
The psychoanalytic group setting, due to its emotional and interpersonal complexity, is likely to call forth transference predispositions that may never emerge in the one-to-one setting. These are likely to arise at a point when the group interaction induces in the patient some experience of negative impact. Such experiences may center on the patient's negative feelings about himself, on his negative feelings vis-à-vis the group, the group analyst, or the group experience. Three clinical vignettes are presented to illustrate how such feelings of deficiency can be leveraged to carry forth processes of transference resolution. 相似文献
95.
96.
Cerne A Bergh C Borg K Ek I Gejervall AL Hillensjö T Olofsson JI Stener-Victorin E Wood M Westlander G 《Human reproduction (Oxford, England)》2006,21(11):2916-2921
BACKGROUND: A pre-ovarian block (POB) technique can be used for pain relief during oocyte retrieval in IVF. The local anaesthetic is deposited in the vaginal wall and between the vaginal wall and the peritoneal surface near the ovary using ultrasound guidance. The aim of this study was to test whether analgesia with POB resulted in improved pain relief compared to paracervical block (PCB). METHODS: A prospective, randomized, multicentre study of POB versus PCB (10 ml of 1% lidocaine each) with 183 patients randomized to POB (n = 96) or PCB (n = 87) was performed. Randomization (via a computer-generated list) was balanced for age, previously completed IVF cycles, degree of anxiety, estimated number of follicles, BMI, premedication and centre. Pain was measured using a visual analogue scale (VAS, 0-100 mm) and given as median values. The primary end-point of this study was overall VAS pain score for both sides during the oocyte retrieval procedure. RESULTS: Overall pain during the entire oocyte retrieval was 22 (POB) and 16 (PCB) (P = 0.42). No differences were found in degree of anxiety, premedication, dose of alfentanil, fertilization rate, number of good-quality embryos or clinical pregnancy rate. CONCLUSIONS: No differences were found in overall pain experienced during the entire oocyte retrieval procedure with POB compared to PCB. 相似文献
97.
Kristopher R. Karvelas MD Ted Xiao MS Carl D. Langefeld PhD Francis O. Walker MD Sapna Pathak BS James B. Caress MD Vanessa Baute MD Michael S. Cartwright MD MS 《Muscle & nerve》2019,59(4):478-481
Introduction: Inclusion body myositis (IBM) can have clinical and electrodiagnostic features similar to other neuromuscular diseases, making it a diagnostic challenge. This prospective study was designed to determine the accuracy of forearm ultrasound for IBM. Methods: Sixty adults were recruited (15 with IBM, 15 with amyotrophic lateral sclerosis [ALS], 15 with other myopathies, and 15 healthy controls), and each underwent ultrasound of the bilateral forearms (imaging the flexor digitorum profundus and flexor carpi ulnaris muscles). Three clinicians with varying ultrasound expertise assigned a diagnosis of IBM, ALS, other myopathy, or control, based on images alone. Results: Intrarater reliability was moderately strong. Interrater reliability varied based on clinician experience. Sensitivity was 73.33% and 66.67% for the expert raters. Specificity was strong for all 3 clinicians (93.33%, 84.44%, and 91.11%). Discussion: Neuromuscular ultrasound of the forearm is reliable and accurate for the diagnosis of IBM, although sensitivity was higher among experienced clinicians. Muscle Nerve 59:478–481, 2019 相似文献
98.
Catherine Walshe Chris Todd Ann-Louise Caress Carolyn Chew-Graham 《The British journal of general practice》2008,58(549):264-272
BACKGROUND: Policies emphasise the importance of collaborative working in community palliative care. Collaborations are generally formed through formal and informal referral processes, but little is known about what influences professionals' decisions to refer to such services. AIM: To explore the influences on referrals within general and specialist community palliative care services. DESIGN OF STUDY: Qualitative, multiple-case study. SETTING: Three primary care trusts in the north-west of England. METHOD: Multiple data collection methods were employed, including documentary analysis, observation of referral team meetings and interviews. This paper primarily reports data from interviews with 47 health professionals, including GPs, district nurses, and specialist palliative care professionals. RESULTS: Judgements -- positive and negative -- about aspects of fellow professionals' performances appeared to influence referral decisions and ongoing collaboration and care. Attributes upon which these judgements were based included professional responsiveness and communication, respect, working and workload management practices, perceived expertise, and notions of elite practice. The effects of such judgements on referral and healthcare practices were altered by professional "game playing" to achieve professionals' desired outcomes. CONCLUSION: Palliative care policies and protocols need to take account of these complex and subtle influences on referrals and collaboration. In particular, teamwork and partnership are encouraged within palliative care work, but critical judgements indicate that such partnerships may be difficult or fragile. It is likely that such judgemental attitudes and practices affect many aspects of primary care, not just palliative care. 相似文献
99.
A questionnaire was administered to individuals who had reported a hypersensitivity to common chemical products in an earlier epidemiological study in the Atlanta, Georgia, metropolitan area. The questionnaire investigated the nature of the symptoms and factors that potentially initiated hypersensitivity and subsequently triggered reactions. Also examined were associated lifestyle modifications and the relationships of hypersensitivity with other illnesses. The authors found that a majority of hypersensitive individuals (52.2%) experienced either "severe" or "somewhat severe" symptoms. The most common triggers of symptoms were cleaning products (88.4%), tobacco smoke (82.6%), perfume (81.2%), pesticides (81.2%), and car exhaust (72.5%). Only 1.4% of the subjects had a prior history of emotional problems, whereas 37.7% developed such problems after the emergence of their hypersensitivity. Lifestyle modifications varied; 76.8% changed their household cleaning/personal hygiene products, 47.8% began using water and/or air filtration systems, and 13% found it necessary to change residence. Although hypersensitivity was more common in females than males, the condition affects individuals in all categories of race/ethnicity, age, household income, and educational level. 相似文献
100.
McDermott AL Dutt SN Tziambazis E Reid AP Proops DW 《The Journal of laryngology and otology. Supplement》2002,(28):29-36
The Birmingham bone-anchored hearing aid programme began in 1988 and by autumn 2000 a total of 351 patients had been fitted with such an aid. The aim of this study was to assess the effectiveness of hearing rehabilitation with the bone-anchored hearing aid. This was a prospective interview-based questionnaire study carried out in the autumn 2000. A total of 84 adult patients were interviewed. Each patient had worn their BAHA for more than one year. The questionnaire used during these interviews was the Glasgow hearing aid benefit profile (GHABP) and the Glasgow hearing aid difference profile (GHADP). This was first derived and validated by Gatehouse in 1999. The use of bone-anchored hearing aids was found to reduce the level of disability and handicap and provided the most patient benefit and satisfaction. 相似文献