Long-Term Follow-Up and Evolution of ADCY5-From a Ballistic to Dystonic Phenotype.
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ABSTRACT:
SUBMITTER: Wali GM
PROVIDER: S-EPMC7604667 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
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Long-Term Follow-Up and Evolution of <i>ADCY5</i>-From a Ballistic to Dystonic Phenotype.
Wali Gurusidheshwar M GM Wali Gautam G Kumar Kishore R KR Sue Carolyn M CM
Movement disorders clinical practice 20200914 8
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Project description:BackgroundCongenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to present the long-term follow-up.Material and methodsA single-center study (1995-2019 years) of patients with congenital disorders of N-glycosylation and combined N- and O-hypoglycosylation was performed.ResultsAmong 32 patients included into the study, there were 12 PMM2-CDG, 3 ALG13-CDG, 3 ALG1-CDG, 1 ALG3-CDG, 3 MPI-CDG, 1 PGM1-CDG, 4 SRD5A3-CDG, 1 DPAGT1-CDG, 3 ATP6AP1-CDG, 1 ATP6V0A2-CDG. The phenotypic and genotypic spectrum during long-term (in some cases over 20 years) observation was characterised and several measurements of serum Tf isoforms taken. Statistical analysis revealed strong negative correlation between asialo-Tf and tetrasialo-Tf, as well as between disialo-Tf and tetrasialo-Tf. Within CDG type I, no difference in % Tf isoforms was revealed between PMM2-CDG and non-PMM2-CDG patients. However, these two groups differed significantly in such diagnostic features as: cerebellar ataxia, failure to thrive, hypothyroidism, pericardial effusion, cardiomyopathy, inverted nipples, prolonged INR. The effect of treatment with mannose in 2 patients with MPI-CDG was assessed and we found that % of asialo-Tf, monosialo-Tf, and disialo-Tf was significantly lowered, whereas tetrasialo-Tf and pentasialo-Tf rose, coming closer or falling into the reference range.ConclusionsThe novel finding was an abnormal Tf IEF pattern in two ALG13-CDG patients and normal in one ALG1-CDG patient. Clinical manifestation of presented CDG patients was similar to that reported in the literature. Mannose supplementation in MPI-CDG patients, as well as galactose supplementation in PGM1-CDG patient, improved patients' clinical picture and Tf isoform profiles.
| S-EPMC7789416 | biostudies-literature
Project description:Purpose:To evaluate structural changes in response to antivascular endothelial growth factor (anti-VEGF) treatment in patients with long-term type 1 choroidal neovascularization (CNV) by optical coherence tomography (OCT) and OCT angiography (OCTA). Method:This is a longitudinal study that involved a total of 51 eyes with type 1 CNV (35 female and 16 male eyes). Structural OCT and OCTA were performed on all the subjects. AngioVue OCTA (XR Avanti, Optovue, Inc., Fremont, CA) was used to obtain qualitative and quantitative information. All eyes were treated with an anti-VEGF ProReNata (PRN) approach and were followed for a mean of 38.9 months (SD ± 7.22). Best-corrected visual acuity (BCVA) was assessed at each follow-up timepoint. Results:We observed two kinds of possible evolution of type 1 CNV: "positive evolution," including stabilization in 20% of patients and chronicity in 35%, and "negative evolution," in which fibrosis was shown in 18% of patients, chorioretinal atrophy in 25%, and hemorrhage or RPE tears in 2%. The mean BCVA at baseline was 33.67 ± 15.85 ETDRS letters; after 1 and 2 years, it was 31.61 ± 18.04 and 31.18 ± 18.58 ETDRS letters, respectively. The mean BCVA at the end of follow-up was 25.27 ± 20 ETDRS letters. The difference between the values at baseline and at the end of follow-up was not statistically significant (P = 0.06, r 2 = 0.10). Conclusions:This study describes an in vivo structural long-term evolution of type 1 CNV by OCT and OCTA. Different possible CNV outcomes were observed. This study suggests that new retinal imaging techniques could be useful tools for assessing the potential retinal changes in the evolution of type 1 CNV to develop personalized medicine. Further studies using OCTA in the long term are needed to better understand why similarly treated type 1 CNV cases evolve differently and produce different results.
| S-EPMC7196959 | biostudies-literature
Project description:ContextDespite tremendous interest in hypoparathyroidism, large cohort studies describing typical treatment patterns, laboratory parameters, and rates of complications are lacking.ObjectiveOur objective was to characterize the course of disease in a large cohort of hypoparathyroid patients.Design and settingWe conducted a chart review of patients with permanent hypoparathyroidism identified via a clinical patient data registry. Patients were seen at a Boston tertiary-care hospital system between 1988 and 2009.PatientsWe identified 120 patients. Diagnosis was confirmed by documented hypocalcemia with a simultaneous low or inappropriately normal PTH level for at least 1 yr. Mean age at the end of the observation period was 52 ± 19 (range 2-87) yr, and the cohort was 73% female.Main outcome measureWe evaluated serum and urine laboratory results and renal and brain imaging.ResultsWe calculated time-weighted average serum calcium measurements for all patients. The time-weighted average for calcium was between 7.5 and 9.5 mg/dl for the majority (88%) of patients. Using linear interpolation, we estimated the proportion of time within the target calcium range for each patient with a median of 86% (interquartile range 67-98%). Of those with a 24-h urine collection for calcium (n = 53), 38% had at least one measurement over 300 mg/d. Of those with renal imaging (n = 54), 31% had renal calcifications, and 52% of those with head imaging (n = 31) had basal ganglia calcifications. Rates of chronic kidney disease stage 3 or higher were 2- to 17-fold greater than age-appropriate norms.ConclusionsHypoparathyroidism and its treatment carry a large burden of disease. Renal abnormalities are particularly common.
| S-EPMC3513540 | biostudies-literature
Project description:PurposeTo assess the long-term follow-up results of laparoscopic pyeloplasty for ureteropelvic junction obstruction.Materials and methodsSixty-five patients (mean age, 43.8 years) who underwent standard laparoscopic pyeloplasty by transperitoneal approaches were enrolled in this study. The chief complaint was flank pain (n=57 patients); the remaining cases were detected incidentally. Twenty-three patients had undergone previous abdominal surgeries, including open pyeloplasty and endopyelotomy. Mean stricture length was 1.06 cm. Grade 3/4 and 4/4 hydronephrosis was detected in 36 and 14 patients, respectively. An obstructive pattern was present on the renal scan in 53 patients (81.5%).ResultsFifty-seven patients were treated with dismembered Anderson-Hynes pyeloplasty and eight patients with Fenger pyeloplasty. During the operation, crossing vessels were found in 27 patients (41.5%). Mean operating time was 159.42 minutes. Although there were no cases of open conversion, two patients with colon and spleen injuries were detected postoperatively. The mean starting time of postoperative ambulation and diet was 1.54 days and 1.86 days, respectively. Mean hospital stay was 8.09 days. Mean follow-up period was 36.5 months. Follow-up intravenous pyelography and renal scan showed improvements in 59 patients, and the radiologic success rate was 90.8%. Eight patients showed failure on radiologic or symptomatic evaluation, and the overall success rate was 87.7%. In the comparative analysis between the success and failure groups, drained amount was the only risk factor related to failure (554.41 mL. vs. 947.70 mL, p=0.024).ConclusionsLong-term follow-up results support laparoscopic pyeloplasty as the standard treatment for ureteropelvic junction obstruction. Drained amount is a risk factor for failure of the operation.
| S-EPMC4198764 | biostudies-literature
Project description:BackgroundPrognostic factors are lacking in cardiac sarcoidosis (CS), and the effects of immunosuppressive treatments are unclear.ObjectivesTo identify prognostic factors and to assess the effects of immunosuppressive drugs on relapse risk in patients presenting with CS.MethodsFrom a cohort of 157 patients with CS with a median follow-up of 7 years, we analysed all cardiac and extra-cardiac data and treatments, and assessed relapse-free and overall survival.ResultsThe 10-year survival rate was 90% (95% CI, 84-96). Baseline factors associated with mortality were the presence of high degree atrioventricular block (HR, 5.56, 95% CI 1.7-18.2, p = 0.005), left ventricular ejection fraction below 40% (HR, 4.88, 95% CI 1.26-18.9, p = 0.022), hypertension (HR, 4.79, 95% CI 1.06-21.7, p = 0.042), abnormal pulmonary function test (HR, 3.27, 95% CI 1.07-10.0, p = 0.038), areas of late gadolinium enhancement on cardiac magnetic resonance (HR, 2.26, 95% CI 0.25-20.4, p = 0.003), and older age (HR per 10 years 1.69, 95% CI 1.13-2.52, p = 0.01). The 10-year relapse-free survival rate for cardiac relapses was 53% (95% CI, 44-63). Baseline factors that were independently associated with cardiac relapse were kidney involvement (HR, 3.35, 95% CI 1.39-8.07, p = 0.007), wall motion abnormalities (HR, 2.30, 95% CI 1.22-4.32, p = 0.010), and left heart failure (HR 2.23, 95% CI 1.12-4.45, p = 0.023). After adjustment for cardiac involvement severity, treatment with intravenous cyclophosphamide was associated with a lower risk of cardiac relapse (HR 0.16, 95% CI 0.033-0.78, p = 0.024).ConclusionsOur study identifies putative factors affecting morbidity and mortality in cardiac sarcoidosis patients. Intravenous cyclophosphamide is associated with lower relapse rates.
| S-EPMC7500618 | biostudies-literature
Project description:AimsData on long-term treatment effects are scarce, despite the intent to use new therapies for many years and the need of patients, physicians and payers to have a better understanding of the lifetime benefits of treatments. The restricted mean or median survival time (RMST) calculated using age instead of time, hypothetically enables estimation of long-term gain in event-free or overall survival from the short-term (within-trial) effects of an intervention, compared with its control. Tha aim of the study is to use trials with long-term follow-up available through extension studies to compare the long-term projections estimated using RMST from within-trial follow-up data with the actual long-term outcomes in the extension studies.Methods and resultsWe estimated the median long-term survival time using age instead of follow-up time and compared these model-based projections with the actual long-term estimates in the (i) SCD-HeFT trial vs. SCD-HeFT long-term outcomes; (ii) SOLVD trial vs. SOLVD 12 year follow-up; (iii) STICH trial vs. STICHES; and (iv) ACCORD study vs. ACCORDION. In the long-term follow-up of SCD-HeFT, gain in survival with ICD vs. placebo over a median of 11.0 years was +1.4 years of life. The RMST model-derived survival projection from the within-trial data (median follow-up of 3.4 years) gave an estimated survival gain of +1.2 years. In STICHES, over a median follow-up of 9.8 years, coronary artery bypass grafting (CABG) vs. medical care led to a survival extension of +1.4 years in favour of CABG. RMST projections using within-trial data from STICH (median follow-up of 4.9 years), gave an extended survival of +2.4 years in favour of CABG in younger patients. In the long-term follow-up of SOLVD, enalapril vs. placebo led to a survival gain of +0.8 years over a median follow-up of 12.1 years. The RMST projections from the within-trial data (median follow-up of 2.8 years) gave a survival extension of +0.3 years in favour of enalapril. In the long-term follow-up ACCORDION study, with a median follow-up of 8.8 years, intensive vs. a standard anti-hyperglycaemic treatment did not influence long-term survival, which was concordant with the RMST projections from the short-term ACCORD study with median follow-up of 4.9 years.ConclusionsAge-based survival projections using within-trial data generally provided concordant results with the actual survival measured in long-term follow-up extension studies. Our findings suggest that age-based lifetime projections may be used as means to assess the long-term treatment effects.
| S-EPMC9715817 | biostudies-literature
Project description:We conducted a study to evaluate the follow-up characteristics of patients with trigeminal neuralgia (TN) and to evaluate the factors affecting long-term outcome of microvascular decompression (MVD) in TN. Between 1983 and 2003, 156 patients with TN treated with MVD by 4 neurosurgeons at University Medical Centre Groningen/the Netherlands were evaluated. Baseline data from operative outcome were evaluated using univariate and multivariate analysis. The group consisted of 156 patients with TN: 90 females and 66 males with a median follow-up period of 9.7 years. The average age of initial symptoms was 51 years. The average duration of symptoms was 58 months. Postoperative 22 patients had a facial hyperpathia or hyperesthesia. Postoperatively, 137 patients had immediate relief. Postoperatively 1 year, 140 patients still had a good outcome of the operation. Twenty-seven patients with good immediate postoperative results had recurrent pain. From the group of patients with typical TN, 82% had good long-term results after operation. Patients with typical TN and immediate postoperative remission, in univariate analysis, had significantly more often an excellent/good postoperative outcome. Immediate postoperative remission is an independent predictive factor for a good long-term outcome. The long-term results of MVD in majority of patients were good with no mortalities and no major morbidities. Patients with typical TN had better long-term outcomes and less recurrence.
| S-EPMC3312136 | biostudies-other
Project description:BackgroundTourette's Syndrome (TS) is a childhood-onset movement disorder marked by the chronic presence of motor and vocal tics. Research shows that tics associated with TS tend to fade in severity for some (but not all) affected youth, though psychiatric comorbidities that commonly accompany TS may be more persistent. The long-term outcomes of individuals with TS have not been well characterized.ObjectiveTo characterize long-term clinical outcomes of individuals with TS.MethodWe conducted a long-term (25-32 years) follow-up study of 45 patients with TS who presented to the Tourette's and Tic Disorders Clinic within the Department of Psychiatry at the University of California San Francisco Medical Center, which was staffed by the first author (Thomas L. Lowe, MD [T.L.L.]), between 1983 and 1990. Baseline data were obtained via chart review, and follow-up data were obtained by self-report surveys.ResultsParticipants generally reported good psychosocial functioning, attainment of significant social milestones (academic attainment, gainful employment, marriage), and high subjective quality of life. The vast majority of participants (82%) reported improvement in their tics over time, though a significant minority continued to experience at least mild tic-related impairment (26%-40%, depending on metric). Lifetime rates of attention deficit hyperactivity disorder (ADHD) and anxiety disorders, including obsessive-compulsive disorder, were greater than in the general US population. Robust predictors of follow-up outcomes were not found.ConclusionsThese findings reflect a positive overall long-term prognosis for individuals with TS. Providing information about this prognosis at the time of diagnosis may decrease distress in affected individuals and their families. Future studies using planned longitudinal designs that address potential confounds of survey nonresponse are needed to detail long-term outcomes of individuals with TS more precisely.
| S-EPMC6335508 | biostudies-literature
Project description:IntroductionThe glaucomas often co-exist with cataract. We previously reported a large trial of anti-scarring treatment in combined phacotrabeculectomy surgery. Long-term outcomes in an African population are extremely rarely reported. We present here the outcomes in IOP, acuity, bleb morphology and patient perceptions at 3-5-years post surgery.MethodsTanzanian patients with glaucoma and visually significant cataract underwent combined phacotrabeculectomy surgery. In November 2015 an attempt was made to contact all participants in the study inviting them for a repeat examination. All who attended were given a detailed examination. A semi-structured interview in Swahili was administrated to determine patient experience and satisfaction with the surgery.ResultsSixty-eight (23%) attended for repeat review in 2015. The mean time from original surgery was 4.5-years (range 2.3-6.6-years). Overall 53 (78%) had IOP < 21 mm Hg and 29 (43%) an IOP < 16 mm Hg at final follow-up. A flat bleb at 26 and 100 days was associated with failure by IOP criteria at 4.5-years post-operatively. A vascular bleb at those time points was not any more associated with late failure than a non-vascular bleb. A majority of patients were pleased with the surgery. The cost of surgery is high but it is a price patients were willing to pay. Nearly all patients (95%) would recommend the service to family and friends.DiscussionOwing to the small proportion reviewed, our conclusions are severely limited. Phacotrabeculectomy worked well in a majority of the reviewed population long-term and is accepted by a majority of these patients as worthwhile.
| S-EPMC6707322 | biostudies-literature
Project description:BackgroundA recent open-label pilot study (N = 15) found that two to three moderate to high doses (20 and 30 mg/70 kg) of the serotonin 2A receptor agonist, psilocybin, in combination with cognitive behavioral therapy (CBT) for smoking cessation, resulted in substantially higher 6-month smoking abstinence rates than are typically observed with other medications or CBT alone.ObjectivesTo assess long-term effects of a psilocybin-facilitated smoking cessation program at ≥12 months after psilocybin administration.MethodsThe present report describes biologically verified smoking abstinence outcomes of the previous pilot study at ≥12 months, and related data on subjective effects of psilocybin.ResultsAll 15 participants completed a 12-month follow-up, and 12 (80%) returned for a long-term (≥16 months) follow-up, with a mean interval of 30 months (range = 16-57 months) between target-quit date (i.e., first psilocybin session) and long-term follow-up. At 12-month follow-up, 10 participants (67%) were confirmed as smoking abstinent. At long-term follow-up, nine participants (60%) were confirmed as smoking abstinent. At 12-month follow-up 13 participants (86.7%) rated their psilocybin experiences among the five most personally meaningful and spiritually significant experiences of their lives.ConclusionThese results suggest that in the context of a structured treatment program, psilocybin holds considerable promise in promoting long-term smoking abstinence. The present study adds to recent and historical evidence suggesting high success rates when using classic psychedelics in the treatment of addiction. Further research investigating psilocybin-facilitated treatment of substance use disorders is warranted.
| S-EPMC5641975 | biostudies-literature