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101.
102.
《Human immunology》2022,83(4):335-345
X-linked agammaglobulinemia (XLA) is an X-linked recessive primary immunodeficiency disorder caused due to a pathogenic variant in the Bruton tyrosine (BTK) gene with an incidence of 1:379,000 live births and 1:190,000 male births. Patients affected with XLA present with recurrent infections of the gastrointestinal and respiratory tracts. Here we report the first case series of 17 XLA patients of 10 South Indian families with a wide spectrum of clinical and genetic features. In our cohort, patients presented mainly with recurrent pneumonia, gastrointestinal infection, otitis media, pyoderma, abscesses, empyema, arthritis, and osteomyelitis. Using next-generation and Sanger sequencing we have identified 10 unique pathogenic and likely pathogenic variants in 17 patients. This encompasses three nonsynonymous, two stop-gain, two frameshifts, two structural, and one splicing variant, out of which two of them are novel. Based on the type of variant, patients had variable clinical features and treatment responses. We have also evaluated Btk protein expression for six patients in comparison to the healthy individuals and determined mosaic Btk expression patterns in four mothers. We have also performed family screening in 6 families using Sanger sequencing and identified 19 carriers for the variant. The diagnosis for the patients led to the proper treatment i.e. 15 patients were on intravenous immunoglobulin (IVIG) and the other two had successful hematopoietic stem cell transplantation (HSCT). Unfortunately, two of our patients died due to sepsis, while on IVIG. We envision the present study could help in better understanding of patients with XLA and help in family screening and prenatal diagnosis. To the best of our knowledge, this is the largest case series of patients affected with XLA from South India. 相似文献
103.
目的 了解康复期器官移植患者家属心身状态对移植器官长期存活的影响.方法 采用Zung焦虑自评量表(SAS)、简易应对方式量表,对600例康复期器官移植患者家属进行问卷调查,并对结果进行分析.结果 康复期器官移植患者家属的焦虑状况高于国内常模(P<0.01);不同性别、文化程度、经济收入状况、医疗费用来源的患者家属焦虑状况差异有统计学意义(P<0.05);患者家属多采用积极应对方式,较少采用消极应对方式(P<0.01).积极应对与患者家属的焦虑水平呈负相关(P<0.01),与移植器官长期存活呈正相关(P<0.05);消极应对与患者家属的焦虑水平呈正相关(P<0.05),与器官移植长期存活呈负相关.结论 焦虑普遍存在于康复期器官移植患者家属中,不同性别、文化程度、经济收入状况、医疗费用来源的患者家属焦虑状况有差异;采取积极应对方式越多,其焦虑水平越低,移植器官存活时间越长;采取消极应对方式越多,其焦虑水平越高,移植器官存活时间越短. 相似文献
104.
《Patient education and counseling》2022,105(4):965-973
ObjectiveWe aimed to develop question prompt lists (QPLs) for family caregivers of nursing home residents with advanced dementia in the context of a study involving Canada, the Czech Republic, Italy, the Netherlands, the United Kingdom and Ireland, and to explore cross-national differences. QPLs can encourage family caregivers to ask questions about their relative’s end-of-life care.MethodsWe used nominal group methods to create country-specific QPLs. Family caregivers read an information booklet about end-of-life care for people with dementia, and generated questions to ask healthcare professionals. They also selected questions from a shortlist. We analyzed and compared the QPLs using content analysis.ResultsFour to 20 family caregivers per country were involved. QPLs ranged from 15 to 24 questions. A quarter (24%) of the questions appeared in more than one country’s QPL. One question was included in all QPLs: “Can you tell me more about palliative care in dementia?”.ConclusionFamily caregivers have many questions about dementia palliative care, but the local context may influence which questions specifically. Local end-user input is thus important to customize QPLs.Practice implicationsPrompts for family caregivers should attend to the unique information preferences among different countries. Further research is needed to evaluate the QPLs’ use. 相似文献
105.
TA Fredriksen MM Wysocka-Bakowska A Bogucki F Antonaci 《Cephalalgia : an international journal of headache》1988,8(2):93-103
Eleven female patients with cervicogenic headache (mean age, 43 years; range, 25-59 years) have been examined with the pupillometer. The pupillary diameter was examined in the basal state (that is, the status before pharmacologic stimulation) and after topically administered tyramine (2%), phenylephrine (1%), and hydroxyamphetamine (1%). A total of 51 tests were performed, 35 in the asymptomatic period and 16 during pain attacks. In a control group consisting of 26 age-matched women a total of 39 tests were carried out. Before pharmacologic stimulation (that is, in the "basal state") the pupils were smaller in the asymptomatic (pain-free) period than during pain attacks in the patients and also as compared with that of control individuals. The anisocoria (the difference in pupillary size in the same individual) observed was not significantly different between the patient group and control individuals either in the basal state (before pharmacologic stimulation) or after pharmacologic stimulation. The mydriasis resulting from the instillation of the three sympathicomimetic drugs was symmetrical in both controls and patients both during and between the pain attacks. This finding is in clear contrast to what is found in cluster headache, in which there is a "Horner-like" syndrome on the symptomatic side. These two headaches thus seem to differ essentially with regard to this variable. 相似文献
106.
107.
A double-blind placebo-controlled trial of intranasal capsaicin for cluster headache 总被引:1,自引:0,他引:1
David R Marks Alan Rapoport Dennis Padla Randall Weeks Robert Rosum Fred Sheftell Frances Arrowsmith 《Cephalalgia : an international journal of headache》1993,13(2):114-116
It has been suggested that treatment of cluster headache (CH) patients with topical capsaicin may desensitize sensory neurons by depleting the nerve terminals of substance P. We attempted to determine whether capsaicin is effective in aborting CH attacks. Patients in acute cluster were randomized to receive either capsaicin or placebo in the ipsilateral nostril for 7 days. Patients recorded the severity of each headache for 15 days. Headaches on days 8–15 of the study were significantly less severe in the capsaicin group vs the placebo group. There was also a significant decrease in headache severity in the capsaicin group on days 8–15 compared to days 1–7, but not in the placebo group. Episodic CH patients appeared to benefit more than chronic CH patients. These results indicate that intranasal capsaicin may provide a new therapeutic option for the treatment of this disease. 相似文献
108.
Manuel?MoralesEmail author Sebastián?Méndez-Alvarez Juana-Victoria?Martín-López Carmen?Marrero César?O.?Freytes 《Supportive care in cancer》2004,12(10):701-707
Catheter-related infection in cancer patients remains an important health-care problem with major financial implications. During the last few years a better understanding of the pathogenesis of catheter-related infections and the interaction between microorganisms and catheter surfaces has emerged. Recently the influence of biofilm formation in catheter-related infections has been established. The development of biofilm by the colonizing microbes permits attachment of the organisms to the vascular access device and confers resistance to antibiotics and host defense mechanisms. Strategies to overcome the development of biofilm are being developed to prevent catheter- and other medical device-related infections. 相似文献
109.
Gamma Knife Treatment of Refractory Cluster Headache 总被引:1,自引:0,他引:1
Robert G. Ford MD ; Kay T. Ford RN ; Swaid Swaid MD ; Paul Young MS ; Richard Jennelle MD 《Headache》1998,38(1):3-9
Four men and two women were treated for refractory cluster headache by gamma knife radiosurgery of the trigeminal nerve root entry zone. The maximum dose of radiation was 70 Gy to the isocenter. Of five patients treated who had refractory chronic cluster headache and one with refractory episodic cluster headache, four had relief judged excellent. Of the two remaining patients with refractory chronic cluster headache, one had relief judged good and the other fair. Five of the six patients treated had relief within a few days to a week following gamma knife radiosurgery. Three with chronic cluster headache had remissions allowing cessation of all preventive and abortive medication. Although one patient experienced complete relief of chronic cluster headache, he continued to have migraine requiring medication. None of the patients treated developed significant postradiation side effects during a follow-up period of 8 to 14 months. The authors conclude that gamma knife radiosurgery of the trigeminal nerve affords great promise in the management of chronic and refractory cluster headache. The technique seemingly carries negligible short- and long- term risk. 相似文献
110.
Cluster headache: a computerized analysis of 24 h Holter ECG recordings and description of ECG rhythm disturbances 总被引:1,自引:0,他引:1
Continuous ECG recording has been carried out for at least 24 h in 27 patients suffering from cluster headache. During the study a total of 84 attacks occurred in 25 of the 27 patients who took part. A computerized analysis of the heart rate changes accompanying attacks showed the following: (i) an increase in heart rate at the onset of attacks; the degree of this increase being dependent on the heart rate before attacks, (ii) a relative decrease in heart rate and increased variations in heart rate during attacks, (iii) a relative increase in heart rate at the end of attacks, and (iv) a relative decrease in heart rate after attacks. Five patients (18.5%) showed ECG rhythm disturbances: two frequent premature ventricular beats, one transient attacks of atrial fibrillation, one first degree atrio-ventricular block, and one patient sino-atrial block. 相似文献