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11.
《Journal of cystic fibrosis》2022,21(6):908-921
This paper is the first in a series providing updated guidance on the definition, evaluation and management of people with a Cystic Fibrosis Transmembrane conductance Regulator (CFTR)-Related Disorder (CFTR-RD). The need for this update relates to more precise characterisation of CFTR gene variants and improved assessment of CFTR protein dysfunction. The exercise is co-ordinated by the European CF Society Standards of Care Committee and Diagnostic Network Working Group and involves stakeholder engagement. This first paper was produced by a core group using an extensive literature review and papers graded for their quality. Subsequent wider stakeholder agreement was achieved.The definition of a CFTR-RD remains “a clinical condition with evidence of CFTR protein dysfunction that does not fulfil the diagnostic criteria for CF”. Clearer guidance on CFTR dysfunction and relevant CFTR variants will be provided. Thresholds for clinical presentations are presented and the paradigm that pathobiological processes may be evident in more than one organ is agreed. In this paper we reflect on the early patient journey, highlighting that CF specialists as well as other relevant specialists should be involved in the care of people with a CFTR-RD. 相似文献
12.
《Ophthalmology》2023,130(8):844-853
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Osnat Bairey MD Alisa Taliansky MD Amir Glik MD Alexandra Amiel MD Shlomit Yust-Katz MD Ronit Gurion MD Miri Zektser MD Tzvika Porges MD Nadav Sarid MD Netanel A. Horowitz MD Tzahala Tzuk Shina MD Eyal Lebel MD Amos Cohen MD Karyn Revital Geiger MD Pia Raanani MD Ofir Wolach MD Tali Siegal MD 《Cancer》2023,129(24):3905-3914
14.
《Neuro-Chirurgie》2023,69(5):101478
ObjectivePituitary abscess is an often misdiagnosed, rare clinical disorder. To improve diagnostic accuracy and the efficacy of surgical and antibiotic therapy for patients with pituitary abscess, herein, we retrospectively reviewed 15 patients who presented with pituitary abscesses from 2005 to 2022.DesignRetrospective study.PatientsFifteen patients underwent transsphenoidal surgery and received antibiotic treatment.MeasurementsComplete details regarding medical history, clinical manifestations, laboratory examinations, imaging studies, and treatment strategies were obtained for all patients.ResultsMost patients presented with hypopituitarism and headaches, while some presented with fever, visual disturbances, and diabetes insipidus (DI). Abscesses showed significant annular enhancement post gadolinium injection. In most patients, pituitary abscess can be cured via microscopic or endoscopic drainage of the abscess followed by antibiotic treatment. Complete cure of pituitary abscess was observed in nine patients, with six cases of prolonged hypopituitarism and only one case of recurrence. Long-term hormone replacement therapy was effective in the postoperative management of hypopituitarism.ConclusionsThe typical manifestations of pituitary abscess include hypopituitarism and headaches; the presence of an enhanced ring at the edge of the mass on contrast-enhanced magnetic resonance images (MRI) is highly suggestive of pituitary abscess. We recommend antibiotic treatment for 4–6 weeks postoperatively, based on the results of bacterial cultures or metagenomic next-generation sequencing (mNGS). 相似文献
15.
【摘要】目的 探讨二维斑点追踪显像技术(2D-STI)评估新生儿窒息合并心肌损害后左心室整体及局部心肌的纵向收缩功能在早期诊断窒息新生儿心肌损害中的临床价值。方法 选择2019年07月至2020年12月期间在右江民族医学院附属医院新生儿科住院的足月窒息新生儿61例,经临床确诊合并心肌损害,根据Apgar评分分为轻度组31例和重度组30例,选择同期住院出生的正常足月新生儿30例作为对照组。检测受检者的血清肌酸激酶同工酶(CK-MB)、肌钙蛋白(cTnT)、左室舒张期前后径(LVDId)、左室射血分数(LVEF)、左室短轴缩短率(LVFS)、辛普森法左室射血分数(Simpson EF)、左室三腔心整体应变(GLS-LAX)、左室四腔心整体应变(GLS-A4C)、左室两腔心整体应变(GLS-A2C)、左室整体应变(GLS-AVG),分析GLS-AVG和CK-MB、cTnT三者的相关性。结果 三组间CK-MB和cTnT比较差异有统计学意义(P<0.05)。三组间性别、体重、胎龄均无统计学差异(P>0.05)。三组间LVDId、LVEF、LVFS、Simpson EF比较差异无统计学意义(P>0.05)。GLS-AVG与CK-MB呈负性相关(r=-0.515,P=0.000),GLS-AVG与cTnT呈负性相关(r=-0.912,P=0.000)。结论 GLS-AVG与CK-MB、cTnT具有相关性,GLS-AVG可作为窒息新生儿心肌损害早期诊断指标。 相似文献
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18.
《The Journal of thoracic and cardiovascular surgery》2023,165(2):460-468.e2
ObjectivesDonor-specific cell-free DNA shows promise as a noninvasive marker for allograft rejection, but as yet has not been validated in both adult and pediatric recipients. The study objective was to validate donor fraction cell-free DNA as a noninvasive test to assess for risk of acute cellular rejection and antibody-mediated rejection after heart transplantation in pediatric and adult recipients.MethodsPediatric and adult heart transplant recipients were enrolled from 7 participating sites and followed for 12 months or more with plasma samples collected immediately before all endomyocardial biopsies. Donor fraction cell-free DNA was extracted, and quantitative genotyping was performed. Blinded donor fraction cell-free DNA and clinical data were analyzed and compared with a previously determined threshold of 0.14%. Sensitivity, specificity, negative predictive value, positive predictive value, and receiver operating characteristic curves were calculated.ResultsA total of 987 samples from 144 subjects were collected. After applying predefined clinical and technical exclusions, 745 samples from 130 subjects produced 54 rejection samples associated with the composite outcome of acute cellular rejection grade 2R or greater and pathologic antibody-mediated rejection 2 or greater and 323 healthy samples. For all participants, donor fraction cell-free DNA at a threshold of 0.14% had a sensitivity of 67%, a specificity of 79%, a positive predictive value of 34%, and a negative predictive value of 94% with an area under the curve of 0.78 for detecting rejection. When analyzed independently, these results held true for both pediatric and adult cohorts at the same threshold of 0.14% (negative predictive value 92% and 95%, respectively).ConclusionsDonor fraction cell-free DNA at a threshold of 0.14% can be used to assess for risk of rejection after heart transplantation in both pediatric and adult patients with excellent negative predictive value. 相似文献
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20.
《Injury》2023,54(7):110761
ObjectivesHistorically, pelvic ring fractures (PRF) are considered to occur predominantly in the anterior ring and therfore to be mechanically stable. Combined anterior and posterior (A + P) PRF are expected to be less mechanically stable and therefore to be associated with higher levels of pain and reduced mobility compared to isolated anterior fractures. The current study investigates the clinical relevance of combined A + P PRF in elderly patients.MethodsA prospective multicentre cohort study was conducted in patients >70 years of age with anterior PRF after low-energy trauma diagnosed on conventional radiographs. All patients underwent an additional CT-scan. Patients were divided into two groups; isolated anterior or combined A + P fractures. Patients were treated conservatively with adequate analgesia for at least one week. If patients could not be mobilised after conservative treatment, surgical fixation was performed. Numerical Rating Scale (NRS) pain scores, dependence on walking aids and Activities of Daily Living scores (ADL) were measured at 2–4 weeks, and 3, 6 and 12 months after fracture.Results102 patients (age 81.1 ± 7.6 years) were included. Isolated anterior fractures were diagnosed in 25 (24.5%) and A + P fractures in 77 (75.5%) patients. Baseline characteristics did not differ between the two groups. Most patients were successfully treated conservatively and 5 (4.9%) underwent percutaneous trans-iliac, trans-sacral screw fixation after failure of conservative treatment. At 2–4 weeks post trauma, patients with A + P fractures had similar median pain scores (3 (range 0–8) vs. 5 (0–10), p = 0.19) and ADL scores (85 (25–100) vs. 78.6 (5–100), p = 0.67), but were more dependent on walking aids (92.8% vs. 72.2%; p = 0.02) compared to patients with isolated anterior fractures. There were no significant differences at 3 months. At one year follow-up the median NRS pain and ADL scores for both fracture groups were 0 and 100, respectively. Mortality was 10.8%, and additional loss to follow-up was 17.6%.ConclusionsThe vast majority of elderly patients with PRF have combined A + P fractures. The clinical implications of additional posterior pelvic ring fractures in elderly patients appears to be limited. 相似文献