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41.
Julian Stürznickel Tim Rolvien Alena Delsmann Sebastian Butscheidt Florian Barvencik Stefan Mundlos Thorsten Schinke Uwe Kornak Michael Amling Ralf Oheim 《Journal of bone and mineral research》2021,36(2):271-282
Reduced bone mineral density (BMD; ie, Z-score ≤−2.0) occurring at a young age (ie, premenopausal women and men <50 years) in the absence of secondary osteoporosis is considered early-onset osteoporosis (EOOP). Mutations affecting the WNT signaling pathway are of special interest because of their key role in bone mass regulation. Here, we analyzed the effects of relevant LRP5 and LRP6 variants on the clinical phenotype, bone turnover, BMD, and bone microarchitecture. After exclusion of secondary osteoporosis, EOOP patients (n = 372) were genotyped by gene panel sequencing, and segregation analysis of variants in LRP5/LRP6 was performed. The clinical assessment included the evaluation of bone turnover parameters, BMD by dual-energy X-ray absorptiometry, and microarchitecture via high-resolution peripheral quantitative computed tomography (HR-pQCT). In 50 individuals (31 EOOP index patients, 19 family members), relevant variants affecting LRP5 or LRP6 were detected (42 LRP5 and 8 LRP6 variants), including 10 novel variants. Seventeen variants were classified as disease causing, 14 were variants of unknown significance, and 19 were BMD-associated single-nucleotide polymorphisms (SNPs). One patient harbored compound heterozygous LRP5 mutations causing osteoporosis-pseudoglioma syndrome. Fractures were reported in 37 of 50 individuals, consisting of vertebral (18 of 50) and peripheral (29 of 50) fractures. Low bone formation was revealed in all individuals. A Z-score ≤−2.0 was detected in 31 of 50 individuals, and values at the spine were significantly lower than those at the hip (−2.1 ± 1.3 versus −1.6 ± 0.8; p = .003). HR-pQCT analysis (n = 34) showed impaired microarchitecture in trabecular and cortical compartments. Significant differences regarding the clinical phenotype were detectable between index patients and family members but not between different variant classes. Relevant variants in LRP5 and LRP6 contribute to EOOP in a substantial number of individuals, leading to a high number of fractures, low bone formation, reduced Z-scores, and impaired microarchitecture. This detailed skeletal characterization improves the interpretation of known and novel LRP5 and LRP6 variants. © 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR). 相似文献
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44.
Tarek Debs Niccolo Petrucciani Sebastian Frey Carine Korkmaz Katharina Hufschmidt Eric Sejor Houssam Eddine Bitar Imed Ben Amor Antonio Iannelli Jean Gugenheim 《Surgery for obesity and related diseases》2021,17(5):901-908
BackgroundBariatric surgery has become widely performed for treating patients with morbid obesity, and the age limits are being pushed further and further as the procedure proves safe. After massive weight loss, many of those patients seek body-contouring surgery for excess skin and fat.ObjectivesTo analyze the feasibility and the safety of abdominoplasty in patients older than 55 years old after bariatric surgery.SettingUniversity hospital medical center.MethodsWe performed a retrospective review of prospectively collected data from patients aged older than 55 years who had undergone abdominoplasty following massive weight loss due to a bariatric surgery at a single institution from 2004 to 2017. The data analyzed included age, gender, preoperative body mass index, associated interventions, co-morbidities, and postoperative complications.ResultsWe retrieved records for 104 patients; 85.6% percent of them were female, and the mean age was 60.1 ± 3.9 years old. Of the 104 patients, 21 (20.2%) underwent a sleeve gastrectomy and 77 (74%) underwent a Roux-en-Y gastric bypass. The mean interval between the bariatric surgery and the abdominoplasty was 33.6 ± 26.9 months. The mean preoperative weight and body mass index were 76.1 ± 14.5 kg and 28.9 ± 4.5 kg/m2, respectively. A total complication rate of 20% was observed. The only factor significantly associated with postoperative morbidity was the associated procedure (P = .03), when we performed another procedure at the same time as the abdominoplasty. Complications included postoperative bleeding in 5 patients (4.8%), seromas in 5 patients (4.8%), surgical site infections in 12 patients (11.5%), and wound dehiscence or ischemia in 2 patients (1.9%). No mortality occurred.ConclusionAbdominoplasty can be safely performed in carefully selected patients older than 55 years old after weight loss surgery, and does not present increased morbidity or mortality. We recommend that surgeons avoid adding concomitant procedures when possible, to decrease the risk of complications. It is also important to look at the patient’s previous maximum BMI levels, as a higher maximum BMI can predict higher postoperative risks and longer hospital stays. 相似文献
45.
Tobias Veit Dieter Munker Jürgen Barton Katrin Milger Teresa Kauke Bruno Meiser Sebastian Michel Michael Zoller Hans Nitschko Oliver T. Keppler Jürgen Behr Nikolaus Kneidinger 《American journal of transplantation》2021,21(10):3449-3455
Letermovir is a new antiviral drug approved for the prophylaxis of CMV infection in allogeneic stem cell transplants. The aim of the study was to assess the therapeutic efficacy of letermovir in difficult to treat CMV infections in lung transplant recipients. All lung transplant recipients between March 2018 and August 2020, who have been treated with letermovir for ganciclovir-resistant or refractory CMV infection were included in the study and analysed retrospectively. In total, 28 patients were identified. CMV disease was present in 15 patients (53.6%). In 23 patients (82.1%), rapid response was noticed, and CMV-viral load could be significantly decreased (>1 log10) after a median of 17 [14–27] days and cleared subsequently in all of these patients. Five patients (17.9%) were classified as non-responder. Thereof, development of a mutation of the CMV UL56 terminase (UL-56-Gen: C325Y) conferring letermovir resistance could be observed in three patients (60%). Common side effects were mild and mostly of gastrointestinal nature. Mild adjustments of the immunosuppressive drugs were mandatory upon treatment initiation with letermovir. In addition to other interventions, letermovir was effective in difficult to treat CMV infections in lung transplant recipients. However, in patients with treatment failure mutation conferring letermovir, resistance should be taken into account. 相似文献
46.
Schmitz Timo Meisinger Christa Kirchberger Inge Thilo Christian Amann Ute Baumeister Sebastian E. Linseisen Jakob 《European journal of epidemiology》2021,36(6):619-627
European Journal of Epidemiology - The aim of this study was to evaluate the impact of the COVID-19 pandemic lockdown on acute myocardial infarction (AMI) care, and to identify underlying stressors... 相似文献
47.
The ligands for several activating natural killer (NK) cell receptors have not been identified to date. Soluble receptor fusion proteins can be used to stain target cells for the presence of these unidentified ligands. Here, we describe the generation and use of soluble type I NK cell receptor isoleucine-zipper (ILZ) fusion proteins of the immunoglobulin (Ig) superfamily. ILZ-fusion proteins are easy to produce and purify. They form trimeric complexes in solution and display a higher binding avidity than classical immunoglobulin-fusion proteins. ILZ-fusion proteins do not interact with Fc-receptors and can therefore be used to block receptor-ligand interactions in cellular assays. This makes ILZ-fusion proteins a valuable tool to study receptor-ligand interactions in NK cells and other cellular systems. 相似文献
48.
McGrady AV Andrasik F Davies T Striefel S Wickramasekera I Baskin SM Penzien DB Tietjen G 《Primary care companion to the Journal of clinical psychiatry》1999,1(4):96-102
BACKGROUND: Headaches account for a high percentage of office visits to primary care physicians, with migraine and tension-type headaches the most common. This article provides a summary of psychophysiologic therapies for migraine and tension-type headache and considers psychosocial factors relevant to headache. Psychophysiologic therapy of headache consists primarily of relaxation and biofeedback. METHOD: Representative controlled studies, meta-analysis, and reviews are utilized to assess the efficacy of biofeedback and relaxation for migraine and tension-type headache. RESULTS: Psychophysiologic therapy comprising biofeedback and relaxation can be provided in standard or limited therapist contact formulas to patients as sole therapy or concurrently with medical therapy. Effectiveness has been demonstrated for thermal biofeedback-and electromyograph biofeedback-assisted relaxation with minimal or no side effects. A typical treatment protocol is offered to exemplify the integration of psychophysiologic therapy into primary care practice. CONCLUSION: Psychophysiologic therapy represents an important adjunctive treatment for chronic benign headache that can be incorporated into primary care. 相似文献
49.
MRI findings in Hirayama’s disease: flexion-induced cervical myelopathy or intrinsic motor neuron disease? 总被引:6,自引:0,他引:6
Schröder R Keller E Flacke S Schmidt S Pohl C Klockgether T Schlegel U 《Journal of neurology》1999,246(11):1069-1074
Hirayama’s disease is a benign juvenile form of focal amyotrophy affecting the upper limbs. Previous studies have suggested
that the disorder is a neck flexion induced cervical myelopathy. We report clinical and magnetic resonance imaging findings
in nine patients with Hirayama’s disease. Cervical imaging of seven patients revealed spinal cord changes consisting of focal
atrophy and foci of signal alterations. On neck flexion a forward movement and mild reduction in the anteroposterior diameter
of the lower cervical cord against the vertebral bodies was noted in affected individuals as well as in five normal controls.
In contrast to earlier reports, none of our patients showed complete obliteration of the posterior subarachnoid space. Measurement
of the anteroposterior spinal cord diameter in each vertebral segment (C4–C7) revealed no significant differences in the degree
of spinal cord flattening between the two groups. Furthermore, two of our patients had significant degenerative changes in
the cervical spine (disc herniation, retrospondylosis) contralateral to the clinically affected side. These degenerative changes
resulted in a marked cord compression on neck flexion but were not associated with ipsilateral clinical abnormalities or spinal
cord alterations. Our results argue against a flexion-induced cervical myelopathy and support the view that Hirayama’s disease
is an intrinsic motor neuron disease.
Received: 15 March 1999 Received in revised form: 25 May 1999 Accepted: 1 June 1999 相似文献
50.
Emre S Sebastian A Chodoff L Boccagni P Meyers B Sheiner PA Mor E Guy SR Atillasoy E Schwartz ME Miller CM 《The Mount Sinai journal of medicine, New York》1999,66(5-6):310-313
In liver transplant (LTx) recipients, gut-associated bacterial and fungal organisms produce significant postoperative morbidity and mortality. We sought to assess the role of selective digestive decontamination (SDD) in preventing postoperative infections in a large single-center cohort of liver recipients transplanted under two non-simultaneous protocols. In 212 consecutive patients transplanted between 1/1/91 and 7/31/92, SDD (gentamicin 80 mg, polymyxin B 100 mg, nystatin suspension 10 mL) was employed, starting after induction of anesthesia and continued until POD 21 (SDD Group). In 157 consecutive patients transplanted between 1/1/93 and 12/31/93, SDD was not used (non-SDD Group). Both groups received IV vancomycin and cefotaxime prophylaxis. All culture-positive infections within the first 30 days post-LTx were recorded and classified as bacterial or fungal. Infection-related mortality (patients who died of infectious complications without any technical complication) was recorded. Groups did not differ in patient demographics, United Network for Organ Sharing (UNOS) status, use of veno-venous bypass, total/warm ischemia, or length of ICU stay. Infections developed in fewer SDD patients (56/212; 26%) than non-SDD patients (69/157; 44%) (p<0.001). The incidence of gram-negative infection was less in the SDD group (11% vs. 26%, p<0. 001) as was gram-positive infection (16% vs. 26%, p<0.001). Among patients who developed infection, there was no difference between groups in infections per patient. Primary graft non-function (PNF) developed in 20 SDD patients (7/20 had infections) and 8 non-SDD patients (6/8 had infections) (p=0.06). There were no differences in incidence of fungal infections or of infection-related mortality between groups. In the SDD group, there were fewer abdominal (p<0. 001), lung (p<0.001), wound (p<0.01), and urinary tract infections (p<0.05). CONCLUSION: Use of SDD in liver recipients early after transplant was associated with significantly fewer infections in the early postoperative period. 相似文献