Tetrahydrobiopterin deficiencies: an international survey of clinical and biochemical features, treatment strategies and follow-up of 626 patients

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
T Opladen ◽  
GF Hoffmann ◽  
N Blau
2021 ◽  
pp. 1-7
Author(s):  
Kimberly L. Yan ◽  
Nerissa U. Ko ◽  
Steven W. Hetts ◽  
Shantel Weinsheimer ◽  
Adib A. Abla ◽  
...  

Background: Sporadic brain arteriovenous malformations (BAVM) are a major cause of hemorrhagic stroke in younger persons. Prior studies have reported contradictory results regarding the risk of hemorrhage during pregnancy, and there are no standard guidelines for the management of pregnant women who present with BAVM rupture. The purpose of this study is to describe maternal and fetal outcomes and treatment strategies in patients with BAVM hemorrhage during pregnancy. Methods: We performed a retrospective review of the University of California, San Francisco Brain AVM Project database for female patients who were pregnant at the time of BAVM hemorrhage between 2000 and 2017. Clinical and angiographic characteristics at presentation, BAVM treatment, and maternal outcomes using modified Rankin scale (mRS) score at presentation and 2-year follow-up were recorded. Fetal outcomes were abstracted from medical records and maternal reports. Results: Sixteen patients presented with BAVM hemorrhage during pregnancy, 81% (n = 13) of whom were in their second or third trimester. Three patients (19%) who were in their first trimester terminated or miscarried pregnancy prior to BAVM intervention. Of the remaining 13 patients, 77% (n = 10) received emergent BAVM treatment at time of hemorrhage prior to delivery, and 85% of patients achieved BAVM obliteration and good maternal outcomes (mRS 0–2) at 2-year follow-up. All patients had uncomplicated deliveries (69% cesarean and 23% vaginal) with no reports of postnatal cognitive or developmental delays in infants at 2-year follow-up. Conclusions: Our study shows good long-term maternal and fetal outcomes in ruptured BAVM patients presenting during pregnancy, the majority who received BAVM interventional treatment prior to delivery.


Rheumatology ◽  
2021 ◽  
Author(s):  
Cécile Gaujoux-Viala ◽  
Christophe Hudry ◽  
Elena Zinovieva ◽  
Hélène Herman-Demars ◽  
René-Marc Flipo

Abstract Objectives The STRATEGE study aimed to describe treatment strategies in current practice in RA bDMARD-naive patients with an inadequate response to MTX therapy, and to compare clinical efficacy of the different therapeutic strategies on disease activity after six months. Methods Main inclusion criteria of this prospective, observational, multicentre study were confirmed RA diagnosis, treatment by MTX monotherapy, and need for therapeutic management modification. Results The 722 patients included had a mean (S.D.) RA duration of 5.3 (6.7) years, a mean DAS28 of 4.0 (±1.1); they were all receiving MTX monotherapy, 68% oral, at a mean dose of 15.0 (4.1) mg/wk. Two major strategies were identified: (i) MTX monotherapy dose and/or route optimization (72%) and (ii) bDMARD initiation ± MTX (16%). MTX dosing was modified for 70% of patients, maintained (dose and route) for 28% of patients, and interrupted for 2%. bDMARDs were started when the MTX mean dose was 17.4 mg/wk, 56% parenterally; MTX was maintained concomitantly for 96% of patients. Six-month follow-up results adjusted by propensity score showed that both options were equally successful in improving disease activity and physical function, with 63% and 68% of good-to-moderate EULAR responses, respectively. Conclusion The STRATEGE study shows the importance of initial MTX treatment optimization before initiation of a biological treatment and emphasizes the importance of treat-to-target strategy.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jin Li ◽  
◽  
Sheng Ping Tang ◽  
Guo Xin Nan ◽  
Ming Li ◽  
...  

Abstract Background The ipsilateral olecranon with associated radial neck fractures does not include in the Bado classification of Monteggia fractures and equivalent lesions. The primary aims of this retrospective multicenter study were to characterize this type of injury and, noting its unique properties, evaluate the results of the treatment, determine the prognostic factors that influence the radiological and clinical outcome, and also give treatment strategies. Methods Between July 2011 and July 2016, forearm fracture patient charts were retrospectively reviewed from seven pediatric trauma centers. Patients diagnosed with ipsilateral olecranon with associated radial neck fractures and followed up for at least 24 months were included. Fracture characteristics, treatment, outcome, and complications were assessed. The clinical outcome of treatments was evaluated by the Mayo Elbow Performance Score (MEPS) and the Flynn criteria. Fisher’s exact test and ANOVA test were used; significance was defined as P < 0.05. Results One hundred thirty-seven consecutive patients (54 girls and 83 boys) from 8292 forearm fractures patients, the mean age of 7.5 years (1.5 to 14.8), with fractures of the ipsilateral olecranon with associated radial neck fractures were identified. One hundred twenty-five patients had radiologic and clinical follow-up. According to a simplified classification system with “operate” and “don’t operate” groups, including five subtypes proposed in this study, ipsilateral olecranon with associated radial neck fractures subtypes could be classified with significantly different characteristics and outcome in treatment and complications. Conclusions Fractures of the ipsilateral olecranon associated with the radial neck are not so rare as previously reported. Complications and poor outcomes were easy to encounter without knowing this type of fracture. Appropriate treatment strategies could be made according to a simple classification system based on the treatment result of follow-up. Level of evidence Retrospective comparative study; Level III


Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 3064
Author(s):  
Jean-Emmanuel Bibault ◽  
Steven Hancock ◽  
Mark K. Buyyounouski ◽  
Hilary Bagshaw ◽  
John T. Leppert ◽  
...  

Prostate cancer treatment strategies are guided by risk-stratification. This stratification can be difficult in some patients with known comorbidities. New models are needed to guide strategies and determine which patients are at risk of prostate cancer mortality. This article presents a gradient-boosting model to predict the risk of prostate cancer mortality within 10 years after a cancer diagnosis, and to provide an interpretable prediction. This work uses prospective data from the PLCO Cancer Screening and selected patients who were diagnosed with prostate cancer. During follow-up, 8776 patients were diagnosed with prostate cancer. The dataset was randomly split into a training (n = 7021) and testing (n = 1755) dataset. Accuracy was 0.98 (±0.01), and the area under the receiver operating characteristic was 0.80 (±0.04). This model can be used to support informed decision-making in prostate cancer treatment. AI interpretability provides a novel understanding of the predictions to the users.


Neurosurgery ◽  
2014 ◽  
Vol 75 (3) ◽  
pp. 238-249 ◽  
Author(s):  
Toshiki Endo ◽  
Hiroaki Shimizu ◽  
Kenichi Sato ◽  
Kuniyasu Niizuma ◽  
Ryushi Kondo ◽  
...  

Abstract BACKGROUND: Reports of cervical perimedullary arteriovenous shunt (PMAVS) are limited, and treatment strategies have not been established. OBJECTIVE: To describe angioarchitecture and optimal treatment strategies for cervical PMAVS. METHODS: We treated 22 patients with cervical PMAVS between 2000 and 2012 (8 women and 14 men; age, 9-80 years). According to the classification, our patients included type IVa (4 patients), type IVb (16 patients), and type IVc (2 patients). Seventeen patients presented with subarachnoid hemorrhage. RESULTS: A total of 41 shunting points were localized in 22 patients, of which 34 points were located ventral or ventrolateral to the spinal cord. The anterior spinal artery (ASA) contributed to the shunts in 16 patients. Aneurysm formation was identified in 8 patients. Endovascular treatment was attempted in 3 patients, resulting in complete obliteration in 1 patient (type IVc). Overall, 21 patients underwent open surgery. An anterior approach with corpectomy was elected for 2 patients; the other 19 patients underwent the posterior approaches using indocyanine green videoangiography, intraoperative angiography, endoscopy (8 patients), and neuromonitoring. Twenty patients were rated as having a good recovery at 6 months after surgery. No recurrence was observed in any patients during the follow-up (mean, 59.7 months). CONCLUSION: Shunting points of the cervical PMAVS were predominantly located ventral or ventrolateral to the spinal cord and were often fed by the ASA. Even for ventral lesions, posterior exposure assisted with neuromonitoring and endoscopy, and intraoperative angiography provided a view sufficient to understand the relationships between the shunts and the ASA and contributed to good surgical outcomes.


2021 ◽  
pp. 036354652110361
Author(s):  
Deepak V. Chona ◽  
Paul D. Minetos ◽  
Christopher M. LaPrade ◽  
Mark E. Cinque ◽  
Geoffrey D. Abrams ◽  
...  

Background: Hip dislocation is a rare occurrence during sports but carries serious implications for athletes. Purpose: To systematically review treatment strategies and outcomes for hip dislocation in athletes, with the ultimate goal of providing sports medicine physicians with the information necessary to appropriately treat and counsel patients sustaining this injury. Study Design: Systematic review; Level of evidence, 4. Methods: PubMed, MEDLINE, and Embase were searched for studies relating to hip instability and athletics from January 1, 1989 to October 1, 2019. Abstracts and articles were evaluated on the basis of predefined inclusion and exclusion criteria. Inclusion criteria were the following: (1) data from ≥1 patients, (2) native hip dislocation or subluxation occurring during sports, (3) patients aged at least 10 years, and (4) written in English. Exclusion criteria were (1) patients younger than 10 years; (2) nonnative or postoperative hip dislocation or subluxation; (3) a native hip injury without dislocation or subluxation; (4) patients with dislocation or subluxation secondary to neuromuscular, developmental, or syndromic causes; (5) dislocation or subluxation not occurring during sports; (6) patients with physeal fractures; or (7) review articles or meta-analyses. Data were recorded on patient demographics, injury mechanism, treatment strategies, and clinical and radiographic outcomes. Where possible, pooled analysis was performed. Studies were grouped based on reported outcomes. Meta-analysis was then performed on these pooled subsets. Results: A total of 602 articles were initially identified, and after screening by 2 reviewers, 27 articles reporting on 145 patients were included in the final review. There were 2 studies that identified morphological differences between patients with posterior dislocation and controls, including decreased acetabular anteversion ( P = .015 and .068, respectively), increased prevalence of a cam deformity ( P < .0035), higher alpha angles ( P≤ .0213), and decreased posterior acetabular coverage ( P < .001). No differences were identified for the lateral center edge angle or Tonnis angle. Protected postreduction weightbearing was most commonly prescribed for 2 to 6 weeks, with 65% of reporting authors recommending touchdown, toe-touch, or crutch-assisted weightbearing. Recurrence was reported in 3% of cases. Overall, 4 studies reported on findings at hip arthroscopic surgery, including a 100% incidence of labral tears (n = 27; 4 studies), 92% incidence of chondral injuries, 20% incidence of capsular tears, and 84% incidence of ligamentum teres tears (n = 25; 2 studies). At final follow-up, 86% of patients reported no pain (n = 14; 12 studies), 87% reported a successful return to play (n = 39; 10 studies), and 11% had radiographic evidence of osteonecrosis (n = 38; 10 studies). Conclusion: Various treatment strategies have been described in the literature, and multiple methods have yielded promising clinical and radiographic outcomes in patients with native hip dislocation sustained during sporting activity. Data support nonoperative treatment with protected weightbearing for hips with concentric reduction and without significant fractures and an operative intervention to obtain concentric reduction if unachievable by closed means alone. Imaging for osteonecrosis is recommended, with evidence suggesting 4- to 6-week magnetic resonance imaging and follow-up at 3 months for those with suspicious findings in the femoral head.


2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Maria N. Chitasombat ◽  
Pimjai Niparuck

Mucormycosis is a life-threatening disease requiring multimodal treatment with antifungals and surgery. The mortality rate remains high, prompting consideration of alternative treatment strategies. Deferiprone has in vitro activity against Mucorales, but its efficacy has never been evaluated in humans. Here, we retrospectively analyzed patients with confirmed mucormycosis who received deferiprone from 2011 to 2017. Five patients had hematologic malignancies and one was diabetic. The sites of infection included sinus-orbit-cerebral (67%), lung (17%), and disseminated infection (17%). Surgery was performed in 83% of cases and achieved local control for 33% of patients. A combination regimen of polyenes plus echinocandins was administered with stepdown treatment using posaconazole. The median duration of antifungal treatment was 86 days (range: 46-435 days) days. Deferiprone was given as adjunctive treatment with a median dose and duration of 100 mg/kd/day (range: 86.2-100 mg/kg/day) and 25 days (range: 15-215 days), respectively. Overall, deferiprone was well-tolerated. Successful outcomes were observed at 12-week follow-up for 67% of patients. The mortality rate at 180- day follow-up was 50%. Adjunctive therapy with deferiprone showed safety and tolerability.


2018 ◽  
Vol 11 (5) ◽  
pp. 485-488 ◽  
Author(s):  
Amit Pujari ◽  
Brian Matthew Howard ◽  
Thomas P Madaelil ◽  
Susana Libhaber Skukalek ◽  
Anil K Roy ◽  
...  

BackgroundThe pipeline embolization device (PED) is approved for the treatment of large aneurysms of the proximal internal carotid artery (ICA). Its off-label application in treating aneurysms located specifically at the ICA terminus (ICA-T) has not been studied.MethodsWe conducted a retrospective chart review of patients from 2011 to 7 treated with PEDs. Out of 365 patients, 10 patients with ICA-T aneurysms were included. Patient demographics, procedural information, follow-up imaging, and clinical assessments were recorded.ResultsMean age was 46.9 years (± 8.8), and 6 (60%) patients were women. The mean maximum diameter of the aneurysms treated was 14.7 mm (± 10.7) and the mean neck diameter was 9.3 mm (± 6.6). Reasons for presentation included six incidental findings, one acute subarachnoid hemorrhage (SAH), and three patients with prior SAH. Kamran–Byrne Occlusion Scale scores for the treated aneurysms were as follows: three class IV (complete obliteration), four class III (<50% filling in both height and width for fusiform aneurysms or residual neck for saccular aneurysms), one class II fusiform aneurysm, 1 class 0 saccular aneurysm (residual aneurysm body), and one not classified due to pipeline thrombosis. Two clinically asymptomatic complications were noted: one patient who had a small distal cortical SAH post PED and one patient whose stent was found to be thrombosed on follow-up angiogram. All patients were seen in follow-up, and no patients were found to have worsening of their pre-procedure modified Rankin Scale score.ConclusionThe PED has potential for treating ICA-T aneurysms not amenable to conventional treatment strategies. Further studies are warranted to confirm the long term outcomes.


2019 ◽  
Vol 47 (9) ◽  
pp. 4575-4579
Author(s):  
Yu Cui ◽  
Xiang-yan Cui ◽  
Tingting Yu ◽  
Zhan-peng Zhu ◽  
Xin Wang

Primary maxillofacial chordoma is extremely rare. We herein report a very rare case of a recurrent maxillofacial chordate tumor that was diagnosed in a 56-year-old woman who underwent three tumor resections. After surgical treatment, the patient healed well with an Eastern Cooperative Oncology Group score of 1. She was discharged to a local hospital for adjuvant radiotherapy. Close follow-up was ongoing at the time of this writing. Radical surgery and adjuvant radiotherapy remain the main treatment strategies for chordoma. Postoperative radiotherapy is particularly important. Our experience is to administer a total dose of 50 Gy to a clearly delineated target. If appropriate comprehensive treatment is available, distant metastasis of primary chordoma is rare, and neck dissection is therefore not generally recommended. Neck lymph node dissection is generally not recommended.


2018 ◽  
Vol 10 (7) ◽  
pp. 644-648 ◽  
Author(s):  
Leonardo Renieri ◽  
Eytan Raz ◽  
Giuseppe Lanzino ◽  
Timo Krings ◽  
Maksim Shapiro ◽  
...  

Background and purposeSpinal arterial aneurysms are a rare cause of spinal subarachnoid hemorrhage (SAH). We performed a retrospective review of spinal arterial aneurysms not associated with spinal arteriovenus shunts from three institutions in order to better understand the clinical and imaging characteristics of these lesions.Materials and methodsWe performed a retrospective review of spinal arterial aneurysms managed at three North American institutions. For each patient, the following information was collected: demographic data, clinical presentation, comorbidities, imaging findings, and neurological status at the last follow-up. Treatment strategies and outcomes were reported.Results11 patients were included; 7 were women and median age was 60 years. The most common presentation was sudden back pain (81.8%). We found 3 aneurysms on the radiculomedullary artery and 8 along the radiculopial arteries. Of the 3 aneurysms on the radiculomedullary artery, 1 was treated conservatively, 1 was treated with coiling of the aneurysm and sacrifice of the radiculomedullary artery, and 1 was treated with surgical trapping. The 8 aneurysms on the radiculopial artery were treated endovascularly in 4 cases, surgically in 1 case, and conservatively in 3 cases. One surgically treated patient had a spinal subdural hematoma. There were no other complications. Mean clinical follow-up time was 20 months, and 87.5% of patients were functionally independent.ConclusionsSpinal arterial aneurysms are lesions which commonly present with sudden back pain and spinal SAH. Conservative, surgical, and endovascular treatment options are safe and effective. Long term outcomes in these patients are generally good.


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