Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC

2003 ◽  
Vol 26 (1) ◽  
pp. 13-16 ◽  
Author(s):  
P. Gissen ◽  
M. A. Preece ◽  
H. A. Willshaw ◽  
P. J. McKiernan
Keyword(s):  
Type I ◽  
Tyrosinaemia Type

Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2005 ◽  
Vol 28 (6) ◽  
pp. 871-876 ◽  
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

scholarly journals Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2006 ◽  
Vol 29 (4) ◽  
pp. 597-597
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

scholarly journals Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 1148
Author(s):  
Ozlem Yilmaz ◽  
Anne Daly ◽  
Alex Pinto ◽  
Catherine Ashmore ◽  
Sharon Evans ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Clinical Signs ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Natural Protein ◽  
Day Range ◽  
Adult Service ◽  
Age Of Diagnosis ◽  
Tyrosinaemia Type 1

In a longitudinal retrospective study, we aimed to assess natural protein (NP) tolerance and metabolic control in a cohort of 20 Hereditary Tyrosinaemia type I (HTI) patients. Their median age was 12 years ([3.2–17.7 years], n = 11 female, n = 8 Caucasian, n = 8 Asian origin, n = 2 Arabic and n = 2 Indian). All were on nitisinone (NTBC) with a median dose of 0.7 g/kg/day (range 0.4–1.5 g/kg/day) and were prescribed a tyrosine (Tyr)/phenylalanine (Phe)-restricted diet supplemented with Tyr/Phe-free L-amino acids. Data were collected on clinical signs at presentation, medical history, annual dietary prescriptions, and blood Phe and Tyr levels from diagnosis until transition to the adult service (aged 16–18 years) or liver transplantation (if it preceded transition). The median age of diagnosis was 2 months (range: 0 to 24 months), with n = 1 diagnosed by newborn screening, n = 3 following phenylketonuria (PKU) screening and n = 7 by sibling screening. Five patients were transplanted (median age 6.3 years), and one died due to liver cancer. The median follow-up was 10 years (3–16 years), and daily prescribed NP intake increased from a median of 5 to 24 g/day. Lifetime median blood Tyr (370 µmol/L, range 280–420 µmol/L) and Phe (50 µmol/L, 45–70 µmol/L) were maintained within the target recommended ranges. This cohort of HTI patients were able to increase the daily NP intake with age while maintaining good metabolic control. Extra NP may improve lifelong adherence to the diet.

Sustained normoglycemia in newly diagnosed type I diabetic subjects. Short-term effects and one-year follow-up

Diabetes ◽  
1984 ◽  
Vol 33 (10) ◽  
pp. 995-1001 ◽  
Author(s):  
K. Perlman ◽  
R. M. Ehrlich ◽  
R. M. Filler ◽  
A. M. Albisser
Keyword(s):  
Type I ◽  
Newly Diagnosed ◽  
Short Term ◽  
One Year ◽  
Short Term Effects

Radiological and clinical associations with scoliosis outcomes after posterior fossa decompression in patients with Chiari malformation and syrinx from the Park-Reeves Syringomyelia Research Consortium

2020 ◽  
Vol 26 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Jennifer M. Strahle ◽  
Rukayat Taiwo ◽  
Christine Averill ◽  
James Torner ◽  
Jordan I. Gewirtz ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Chiari Malformation ◽  
Craniocervical Junction ◽  
Curve Progression ◽  
Posterior Fossa Decompression ◽  
Type I ◽  
Younger Age ◽  
Curve Magnitude ◽  
The Mean

OBJECTIVEIn patients with Chiari malformation type I (CM-I) and a syrinx who also have scoliosis, clinical and radiological predictors of curve regression after posterior fossa decompression are not well known. Prior reports indicate that age younger than 10 years and a curve magnitude < 35° are favorable predictors of curve regression following surgery. The aim of this study was to determine baseline radiological factors, including craniocervical junction alignment, that might predict curve stability or improvement after posterior fossa decompression.METHODSA large multicenter retrospective and prospective registry of pediatric patients with CM-I (tonsils ≥ 5 mm below the foramen magnum) and a syrinx (≥ 3 mm in width) was reviewed for clinical and radiological characteristics of CM-I, syrinx, and scoliosis (coronal curve ≥ 10°) in patients who underwent posterior fossa decompression and who also had follow-up imaging.RESULTSOf 825 patients with CM-I and a syrinx, 251 (30.4%) were noted to have scoliosis present at the time of diagnosis. Forty-one (16.3%) of these patients underwent posterior fossa decompression and had follow-up imaging to assess for scoliosis. Twenty-three patients (56%) were female, the mean age at time of CM-I decompression was 10.0 years, and the mean follow-up duration was 1.3 years. Nine patients (22%) had stable curves, 16 (39%) showed improvement (> 5°), and 16 (39%) displayed curve progression (> 5°) during the follow-up period. Younger age at the time of decompression was associated with improvement in curve magnitude; for those with curves of ≤ 35°, 17% of patients younger than 10 years of age had curve progression compared with 64% of those 10 years of age or older (p = 0.008). There was no difference by age for those with curves > 35°. Tonsil position, baseline syrinx dimensions, and change in syrinx size were not associated with the change in curve magnitude. There was no difference in progression after surgery in patients who were also treated with a brace compared to those who were not treated with a brace for scoliosis.CONCLUSIONSIn this cohort of patients with CM-I, a syrinx, and scoliosis, younger age at the time of decompression was associated with improvement in curve magnitude following surgery, especially in patients younger than 10 years of age with curves of ≤ 35°. Baseline tonsil position, syrinx dimensions, frontooccipital horn ratio, and craniocervical junction morphology were not associated with changes in curve magnitude after surgery.

Effectiveness of the Chiari Health Index for Pediatrics instrument in measuring postoperative health-related quality of life in pediatric patients with Chiari malformation type I

2020 ◽  
pp. 1-6
Author(s):  
Georgina E. Sellyn ◽  
Alan R. Tang ◽  
Shilin Zhao ◽  
Madeleine Sherburn ◽  
Rachel Pellegrino ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Type I ◽  
Health Related Quality ◽  
Health Index ◽  
Chiari Malformation Type I ◽  
Related Quality ◽  
Health Related ◽  
Over Time

OBJECTIVEThe authors’ previously published work validated the Chiari Health Index for Pediatrics (CHIP), a new instrument for measuring health-related quality of life (HRQOL) for pediatric Chiari malformation type I (CM-I) patients. In this study, the authors further evaluated the CHIP to assess HRQOL changes over time and correlate changes in HRQOL to changes in symptomatology and radiological factors in CM-I patients who undergo surgical intervention. Strong HRQOL evaluation instruments are currently lacking for pediatric CM-I patients, creating the need for a standardized HRQOL instrument for this patient population. This study serves as the first analysis of the CHIP instrument’s effectiveness in measuring short-term HRQOL changes in pediatric CM-I patients and can be a useful tool in future CM-I HRQOL studies.METHODSThe authors evaluated prospectively collected CHIP scores and clinical factors of surgical intervention in patients younger than 18 years. To be included, patients completed a baseline CHIP captured during the preoperative visit, and at least 1 follow-up CHIP administered postoperatively. CHIP has 2 domains (physical and psychosocial) comprising 4 components, the 3 physical components of pain frequency, pain severity, and nonpain symptoms, and a single psychosocial component. Each CHIP category is scored on a scale, with 0 indicating absent and 1 indicating present, with higher scores indicating better HRQOL. Wilcoxon paired tests, Spearman correlations, and linear regression models were used to evaluate and correlate HRQOL, symptomatology, and radiographic factors.RESULTSSixty-three patients made up the analysis cohort (92% Caucasian, 52% female, mean age 11.8 years, average follow-up time 15.4 months). Dural augmentation was performed in 92% of patients. Of the 63 patients, 48 reported preoperative symptoms and 42 had a preoperative syrinx. From baseline, overall CHIP scores significantly improved over time (from 0.71 to 0.78, p < 0.001). Significant improvement in CHIP scores was seen in patients presenting at baseline with neck/back pain (p = 0.015) and headaches (p < 0.001) and in patients with extremity numbness trending at p = 0.064. Patients with syringomyelia were found to have improvement in CHIP scores over time (0.75 to 0.82, p < 0.001), as well as significant improvement in all 4 components. Additionally, improved CHIP scores were found to be significantly associated with age in patients with cervical (p = 0.009) or thoracic (p = 0.011) syrinxes.CONCLUSIONSThe study data show that the CHIP is an effective instrument for measuring HRQOL over time. Additionally, the CHIP was found to be significantly correlated to changes in symptomatology, a finding indicating that this instrument is a clinically valuable tool for the management of CM-I.

Prognostic significance of C1–C2 facet malalignment after surgical decompression in adult Chiari malformation type I: a pilot study based on the Chicago Chiari Outcome Scale

2020 ◽  
pp. 1-7
Author(s):  
Michael Lumintang Loe ◽  
Tito Vivas-Buitrago ◽  
Ricardo A. Domingo ◽  
Johan Heemskerk ◽  
Shashwat Tripathi ◽  
...  
Keyword(s):  
Pilot Study ◽  
Chiari Malformation ◽  
Prognostic Significance ◽  
Foramen Magnum ◽  
Bivariate Analysis ◽  
Type I ◽  
Foramen Magnum Decompression ◽  
Swallowing Function ◽  
Chiari Malformation Type I

OBJECTIVEThe authors assessed the prognostic significance of various clinical and radiographic characteristics, including C1–C2 facet malalignment, in terms of surgical outcomes after foramen magnum decompression of adult Chiari malformation type I.METHODSThe electronic medical records of 273 symptomatic patients with Chiari malformation type I who were treated with foramen magnum decompression, C1 laminectomy, and duraplasty at Mayo Clinic were retrospectively reviewed. Preoperative and postoperative Neurological Scoring System scores were compared using the Friedman test. Bivariate analysis was conducted to identify the preoperative variables that correlated with the patient Chicago Chiari Outcome Scale (CCOS) scores. Multiple linear regression analysis was subsequently performed using the variables with p < 0.05 on the bivariate analysis to check for independent associations with the outcome measures. Statistical software SPSS version 25.0 was used for the data analysis. Significance was defined as p < 0.05 for all analyses.RESULTSFifty-two adult patients with preoperative clinical and radiological data and a minimum follow-up of 12 months were included. Motor deficits, syrinx, and C1–C2 facet malalignment were found to have significant negative associations with the CCOS score at the 1- to 3-month follow-up (p < 0.05), while at the 9- to 12-month follow-up only swallowing function and C1–C2 facet malalignment were significantly associated with the CCOS score (p < 0.05). Multivariate analysis showed that syrinx presence and C1–C2 facet malalignment were independently associated with the CCOS score at the 1- to 3-month follow-up. Swallowing function and C1–C2 facet malalignment were found to be independently associated with the CCOS score at the 9- to 12-month follow-up.CONCLUSIONSThe observed results in this pilot study suggest a significant negative correlation between C1–C2 facet malalignment and clinical outcomes evaluated by the CCOS score at 1–3 months and 9–12 months postoperatively. Prospective studies are needed to further validate the prognostic value of C1–C2 facet malalignment and the potential role of atlantoaxial fixation as part of the treatment.

scholarly journals Diastolic dyssynchrony in patients with LV only fusion pacing CRT without RV lead

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
A Gurgu ◽  
L Petrescu ◽  
C Vacarescu ◽  
CT Luca ◽  
C Mornos ◽  
...  
Keyword(s):  
Lateral Wall ◽  
Positive Outcome ◽  
Type I ◽  
Exercise Tests ◽  
Type Iii ◽  
Funding Sources ◽  
End Diastolic Volume ◽  
Chamber View ◽  
Systolic And Diastolic Function

Abstract Funding Acknowledgements Type of funding sources: None. Background CRT improves both systolic and diastolic function, thus increasing cardiac output. However, less data is available concerning diastolic dyssynchrony and fusion pacing CRT. The aim of our study was to assess the outcome of LV diastolic asynchrony in a population of fusion pacing CRT without right ventricular (RV)  lead. Methods Prospective data were collected from a cohort of patients (pts) with right atrium/left ventricle leads (RA/LV CRT). Baseline and every 6 months follow-up included standard ETT and classical dyssynchrony parameter measurements. Diastolic dyssynchrony was done by offline speckle-tracking derived TDI timing assesment of the simultaneity of E" and A"  basal septal and lateral wall 4 chamber view. New parameters were introduced: E" and respectively A" time (E"T / A"T) as the time difference between E" (respectively A" ) peaks septal and lateral wall. Exercise tests, drugs optimization and device individual programmimg were systematically performed in order to maintain constant fusion and improve CRT response. Patients were divided in three groups: super-responders (SR), responders (R) and non responders (NR). Results Sixty-two pts (35 male) aged 62 ± 11 y.o. with idiopathic DCM implanted with a RA/LV CRT were analyzed: 34%SR / 61%R / 5%NR. Baseline initial characteristics: QRS 164 ± 18 ms; EF 27 ± 5.2; 29% had type III diastolic dysfunction (DD), 63% type II DD, 8% type I DD. Average follow-up was 45 ± 19 months; mean LVEF at the last follow-up was 37 ± 7.9%. The E"T decreased from 90 ± 20 ms to 25 ± 10 ms in SR with significant LV reverse remodelling (LV end-diastolic volume 193.7 ± 81 vs 243.2 ± 82 ml at baseline, p &lt; 0.0028) and lower LV filling pressures (E/E" 13.2 ± 4.6 vs 11.4 ± 4.5, p =0.0295). DD profile improved in 65% of R with a reduction in E/A ratio (1.46 ± 5.3 vs. 0.82 ± 3.9 at baseline, p= 0.4453). Non-sudden cardiac death occurred in 3 NR pts (2%) with type III DD, severe LA volume and larger E" T /A"T (E"T&gt; 85 msec A"T &gt; 30 msec).  Significant cut off value calculated by ROC curve for LV diastolic dyssynchrony is E"T &gt; 80 ms and A"T of &gt; 25 msec. Conclusions Fusion pacing CRT without RV lead showed a positive outcome; improving LV diastolic dyssynchrony in responders and super-responders patients is obvious. Larger randomized studies are needed to define the role of diastolic asynchronism as a predictor of favorable response in fusion pacing. Abstract Figure. Typical TDI patterns in LV fusion pacing

scholarly journals Perforator preservation technologies (PPT) based on a new neuro-interventional classification in endovascular treatment of perforator involving aneurysms (piANs)

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Chen Li ◽  
Ao-Fei Liu ◽  
Han-Cheng Qiu ◽  
Xianli Lv ◽  
Ji Zhou ◽  
...  
Keyword(s):  
Endovascular Therapy ◽  
Saccular Aneurysm ◽  
Type I ◽  
Type Ii ◽  
Fusiform Aneurysm ◽  
Type Iii ◽  
Perforating Artery ◽  
Protection Technology ◽  
Perforating Arteries

Abstract Background Treatment of perforator involving aneurysm (piAN) remains a challenge to open and endovascular neurosurgeons. Our aim is to demonstrate a primary outcome of endovascular therapy for piANs with the use of perforator preservation technologies (PPT) based on a new neuro-interventional classification. Methods The piANs were classified into type I: aneurysm really arises from perforating artery, type II: saccular aneurysm involves perforating arteries arising from its neck (IIa) or dome (IIb), and type III: fusiform aneurysm involves perforating artery. Stent protection technology of PPT was applied in type I and III aneurysms, and coil-basket protection technology in type II aneurysms. An immediate outcome of aneurysmal obliteration after treatment was evaluated (satisfactory obliteration: the saccular aneurysm body is densely embolized (I), leaving a gap in the neck (IIa) or dome (IIb) where the perforating artery arising; fusiform aneurysm is repaired and has a smooth inner wall), and successful perforating artery preservation was defined as keeping the good antegrade flow of those perforators on postoperative angiography. The periprocedural complication was closely monitored, and clinical and angiographic follow-ups were performed. Results Six consecutive piANs (2 ruptured and 4 unruptured; 1 type I, 2 type IIa, 2 type IIb, and 1 type III) in 6 patients (aged from 43 to 66 years; 3 males) underwent endovascular therapy between November 2017 and July 2019. The immediate angiography after treatment showed 6 aneurysms obtained satisfactory obliteration, and all of their perforating arteries were successfully preserved. During clinical follow-up of 13–50 months, no ischemic or hemorrhagic event of the brain occurred in the 6 patients, but has one who developed ischemic event in the territory of involving perforators 4 h after operation and completely resolved within 24 h. Follow-up angiography at 3 to 10M showed patency of the parent artery and perforating arteries of treated aneurysms, with no aneurysmal recurrence. Conclusions Our perforator preservation technologies on the basis of the new neuro-interventional classification seem feasible, safe, and effective in protecting involved perforators while occluding aneurysm.

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