MO001THE EUROPEAN DRTA REGISTRY: AN INITIAL DATA ANALYSIS*

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Detlef Bockenhauer ◽  
Francesco Emma ◽  
Amina Talhi ◽  
Svetlana Papizh ◽  
Bahriye Atmis ◽  
...  
Keyword(s):  
Distal Tubule ◽  
Rare Disorder ◽  
Reference Network ◽  
Term Outcome ◽  
Adequate Treatment ◽  
Long Term Outcome ◽  
Clinical Consequences ◽  
Few Data

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder characterised by an inability of the distal tubule to secrete acid, leading to metabolic acidosis. Clinical consequences typically include hypokalaemia, hypercalciuria with nephrocalcinosis and/or urolithiasis, as well as bone disease. Treatment with adequate alkali supplementation corrects the acidosis and hypercalciuria, but there are few data on long-term outcome. In 2018, a registry for dRTA was established by the European Society for Paediatric Nephrology, hosted by the European Rare Kidney Disease Reference Network. Here, we present an initial analysis of data in the registry. Method Analysis of data entered into the registry by the cut-off data of 18/11/2020. Results A total of 135 patients had been entered, of which 106 had additional data from an annual follow-up visit. Median age at last visit was 10 years (range 0-54), including 16 adults (>17y). Genetic testing had been performed in 91 subjects and causative variants were reported in 74 (81%). Pertinent clinical details according to genetic group are listed in table 1. Treatment was provided with at least 15 different preparations, containing citrate or bicarbonate, given in 1-10 (median 3) daily doses. Adequate treatment at last follow-up, as judged by a plasma bicarbonate level >21 mmol/l and a urine calcium-creatinine ratio in the age-specific normal range was present in 46% of subjects. There was a trend for higher eGFR and height SDS in subjects with adequate treatment compared to those without, but this was not statistically significant. Conclusion Currently available data demonstrate the difficulties in treating dRTA, with less than half of subjects achieving adequate control of their acidosis. By collecting long-term data, the registry will provide important information on the prognosis and complications of dRTA and to what degree these can be prevented with treatment. Enrollment of further, especially adult patients will contribute to our understanding of this rare disorder.

Long-Term Outcomes of Patients with Hydrocephalus Secondary to Tectal Plate Glioma versus Idiopathic Aqueductal Stenosis: Results from a Single Center

2021 ◽  
pp. 1-11
Author(s):  
Hamid Reza Niknejad ◽  
Melissa Frederickx ◽  
Emiel Salaets ◽  
Jurgen Lemiere ◽  
Lieven Lagae ◽  
...  
Keyword(s):  
Aqueductal Stenosis ◽  
Maximum Diameter ◽  
Benign Tumors ◽  
Term Outcome ◽  
Adequate Treatment ◽  
Long Term Outcome ◽  
Tectal Plate ◽  
The Mean

<b><i>Introduction:</i></b> Tectal plate gliomas (TPG) constitute a distinct entity of benign tumors of the brain stem which show an indolent clinical course. Adequate treatment of secondary hydrocephalus is undoubtedly a major factor in the outcome. However, little is known about to what degree the tumor itself determines the long-term outcome of these patients. <b><i>Methods:</i></b> We retrospectively analyzed and compared the clinical and radiological data of 16 pediatric TPG patients with data of 12 pediatric idiopathic aqueductal stenosis (IAS) patients treated in our center from 1988 to 2018. For both groups, we assessed the long-term outcome in terms of hydrocephalus management, and for the TPG group, we assessed tumor growth during follow-up. In a separate prospective part of the study, we performed a neuropsychological evaluation in a subgroup of patients using a standardized testing battery, covering intelligence, learning, memory, executive functions, and an inventory on depression. <b><i>Results:</i></b> In the TPG group, the mean clinical and radiological follow-up was 84 and 70 months, respectively. On average, the maximum diameter of the tumor increased by 11% (<i>p</i> = 0.031) and the estimated tumor volume with 35% (<i>p</i> = 0.026) on radiological follow-up. The fronto-occipital horn ratio (FOHR) decreased by 23% on average after treatment. In the IAS group, the mean clinical and radiological follow-up was 117 and 85 months, respectively. In this group, the FOHR decreased by 21% on average. Neurocognitive testing revealed significant higher scores in the TPG group on global intelligence (TPG = 109, IAS = 85.5, <i>U</i> = 3, <i>p</i> &#x3c; 0.01, <i>z</i> = −2.71), performance (TPG= 100, IAS = 85, <i>U</i> = 7, <i>p</i> = 0.03, <i>z</i> = −2.2), and verbal intelligence (TPG = 122, IAS = 91.5, <i>U</i> = 2, <i>p</i> &#x3c; 0.00, <i>z</i> = −2.87) as well as working memory (TPG = 109.5, IAS = 77, <i>U</i> = 0.5, <i>p</i> = 0.01, <i>z</i> = −2.46). <b><i>Conclusion:</i></b> Our results suggest that the long-term outcome in TPG patients is acceptable and that cognition is substantially better preserved than in patients with IAS. This puts the idea of a significant contribution of the tumoral mass to disease outcome on the long term in question. Adequate and prompt management of hydrocephalus is the most important factor in long-term cognitive outcome.

Klinische Langzeitergebnisse der perkutanen transluminalen Angioplastie bei Patienten mit peripherer arterieller Verschlusskrankheit

VASA ◽  
2002 ◽  
Vol 31 (1) ◽  
pp. 36-42 ◽  
Author(s):  
. Bucek ◽  
Hudak ◽  
Schnürer ◽  
Ahmadi ◽  
Wolfram ◽  
...  
Keyword(s):  
Success Rate ◽  
Clinical Stage ◽  
Ankle Brachial Index ◽  
Clinical Situation ◽  
Clinical Results ◽  
Transluminal Angioplasty ◽  
Term Outcome ◽  
Long Term Outcome

Background: We investigated the long-term clinical results of percutaneous transluminal angioplasty (PTA) in patients with peripheral arterial occlusive disease (PAOD) and the influence of different parameters on the primary success rate, the rate of complications and the long-term outcome. Patients and methods: We reviewed clinical and hemodynamic follow-up data of 166 consecutive patients treated with PTA in 1987 in our department. Results: PTA improved the clinical situation in 79.4% of patients with iliac lesions and in 88.3% of patients with femoro-popliteal lesions. The clinical stage and ankle brachial index (ABI) post-interventional could be improved significantly (each P < 0,001), the same results were observed at the end of follow-up (each P < 0,001). Major complications occurred in 11 patients (6.6%). The rate of primary clinical long-term success for suprainguinal lesions was 55% and 38% after 5 and 10 years (femoro-popliteal 44% and 33%), respectively, the corresponding data for secondary clinical long-term success were 63% and 56% (60% and 55%). Older age (P = 0,017) and lower ABI pre-interventional (P = 0,019) significantly deteriorated primary clinical long-term success for suprainguinal lesions, while no factor could be identified influencing the outcome of femoro-popliteal lesions significantly. Conclusion: Besides an acceptable success rate with a low rate of severe complications, our results demonstrate favourable long-term clinical results of PTA in patients with PAOD.

Psychopathology 8½ Years Post Parasuicide

Crisis ◽  
1999 ◽  
Vol 20 (3) ◽  
pp. 115-120 ◽  
Author(s):  
Stephen Curran ◽  
Michael Fitzgerald ◽  
Vincent T Greene
Keyword(s):  
Rating Scales ◽  
Psychiatric Morbidity ◽  
Parental Bonding ◽  
Social Maladjustment ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Face To Face ◽  
Long Term Follow Up

There are few long-term follow-up studies of parasuicides incorporating face-to-face interviews. To date no study has evaluated the prevalence of psychiatric morbidity at long-term follow-up of parasuicides using diagnostic rating scales, nor has any study examined parental bonding issues in this population. We attempted a prospective follow-up of 85 parasuicide cases an average of 8½ years later. Psychiatric morbidity, social functioning, and recollections of the parenting style of their parents were assessed using the Clinical Interview Schedule, the Social Maladjustment Scale, and the Parental Bonding Instrument, respectively. Thirty-nine persons in total were interviewed, 19 of whom were well and 20 of whom had psychiatric morbidity. Five had died during the follow-up period, 3 by suicide. Migration, refusals, and untraceability were common. Parasuicide was associated with parental overprotection during childhood. Long-term outcome is poor, especially among those who engaged in repeated parasuicides.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

Primary Calvarial Ewing Sarcoma: A Case Series

2021 ◽  
Author(s):  
Sandeep Mohindra ◽  
Manjul Tripathi ◽  
Aman Batish ◽  
Ankur Kapoor ◽  
Ninad Ramesh Patil ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Tumor Resection ◽  
Case Series ◽  
Radical Excision ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Intradural Tumor ◽  
Age Range

Abstract Background Calvarial Ewing tumor is a relatively rare differential among bony neoplasms. We present our experience of managing primary calvarial Ewing sarcoma (EWS), highlighting their clinical and radiological findings. Method In a retrospective analysis, we evaluated our 12-year database for pathologically proven EWS. A literature search was conducted for the comparative presentation and update on the management and outcome. Result From January 2008 to December 2020, we managed eight patients (male:female = 5:3; age range 6 months to 19 years, mean 11.5 years) harboring primary calvarial EWS. All cases underwent wide local excision; two patients required intradural tumor resection, while one required rotation flap for scalp reconstruction. Mean hospital stay was 8 days. All patients received adjuvant chemo- and radiotherapy. Three patients remained asymptomatic at 5 years of follow-up, while two patients died. Conclusion Primary calvarial EWS is a rare entity. It usually affects patients in the first two decades of life. These tumors can be purely intracranial, causing raised intracranial pressure symptoms, which may exhibit rapidly enlarging subgaleal tumors with only cosmetic deformities or symptoms of both. Radical excision followed by adjuvant therapy may offer a favorable long-term outcome.

Syncope in relation to pulmonary arterial obstructive burden, hemodynamic status and short- and long-term outcome in patients with acute pulmonary embolism

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
B Keskin ◽  
H.C Tokgoz ◽  
O.Y Akbal ◽  
A Hakgor ◽  
S Tanyeri ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Acute Pulmonary Embolism ◽  
Right Atrial ◽  
Term Outcome ◽  
Risk Status ◽  
Long Term Outcome ◽  
Short And Long Term ◽  
Severity Indexes

Abstract Background and aims Although syncope (S) has been reported as one of the presenting findings in patients (pts) with acute pulmonary embolism (APE), its clinical and haemodynamic correlates and impacts on the long-term outcome in this setting remains to be determined. In this single-centre study we evaluated the clinical and haemodynamic significance of S in APE in initial asessment, and during short- and long-term follow-up period. Methods Our study was based on the retrospective and prospective analysis of the overall 641 pts (age 65 (51–74 IQR) yrs, 56.2% female) with diagnosis of documented APE who underwent anticoagulant (n=207), thrombolytic (n=164), utrasound-facilitated thrombolysis (UFT) (n=218) or rheolytic thrombectomy (RT) (n=52). The systematic work- up including multidetector computed tomography (MDCT), Echo, biomarkers, and PE severity indexes were performed in all pts, and Qanadli score (QS) was used as the measure of the thrombotic burden in the pulmonary arteries (PA). Results The S as the presenting symptom In 30.2% of pts with APE. At baseline assessment, S(+) vs S(−) APE subgroups had a significantly shorter symptom-diagnosis interval, a higher risk status according to the significant elevations in troponin T, D-dimer, the higher PE severity indexes, a more deteriorated right ventricle/left ventricle ratio (RV/LV r), right atrial/left atrial ratio (LA/RAr) and RV longitudinal function indexes including tricuspid annular planary excursion (TAPSE) and tissue velocity (St), a significantly higher PA obstructive burden as assessed by QS and PA pressures. Thrombolytic therapy (36.2% vs 21%, p&lt;0.001) and RT (11.9% vs 6.47%, p=0.037) were more frequently utilized S(+) as compared to S(−) group. However, all these differences between two subgroups were found to disappear after evidence-based APE treatments. In-hospital mortality (IHM) (12.95% vs 6%, p=0.007) and minor bleeding (10.36% vs 2.9%, p&lt;0.001) were significantly higher in S(+) pts as compared to those in S(−) subgroup. Binominal logistic regression analysis revealed that PESI score and RV/LVr independently associated with S while IHM was only predicted by age and heart rate. The COX proportional hazard method showed that RV/LVr at discharge and malignancy were independently associated with cumulative mortality during follow-up duration of 620 (200–1170 IQ) days. Conclusions The presence of S in pts with APE was found to be asociated with a higher PA obstructive burden, a more deteriorated RV function and haemodynamics and higher risk status which may need more agressive reperfusion treatments. However, in the presence of the optimal treatments, S did not predict neither in-hospital outcome, nor long-term mortality. Funding Acknowledgement Type of funding source: None

scholarly journals Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areas

2021 ◽  
Author(s):  
Loay Shoubash ◽  
Jörg Baldauf ◽  
Marc Matthes ◽  
Michael Kirsch ◽  
Matthias Rath ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Short Form ◽  
Preoperative Evaluation ◽  
Patient Counseling ◽  
Surgical Morbidity ◽  
Term Outcome ◽  
Long Term Outcome

AbstractThe aim of this study is to analyze the long-term quality of life after surgery of cavernoma. A monocentric retrospective study was conducted on 69 patients with cavernoma treated microsurgically between 2000 and 2016. The eloquence was adopted from Spetzler-Martin definition. A most recent follow-up was elicited between 2017 and 2019, in which the quality of life (QoL) was evaluated with the Short Form-12 questionnaire (SF12). Forty-one lesions were in eloquent group (EG), 22 in non-eloquent group (NEG), 3 in orbit, and 3 in the spinal cord. Postoperative worsening of the modified Rankin scale (mRS) occurred in 19.5% of cases in EG versus 4.5% in NEG. After a mean follow-up of 6.5 years (SD 4.6), the neurological status was better or unchanged compared to baseline in 85.4% of EG and 100% of NEG. Regarding QoL assessment of 44 patients (EG n = 27, NEG n = 14) attended the last follow-up. Patients after eloquent cavernoma resection reported a non-inferior QoL in most SF12 domains (except for physical role) compared to NEG. However, they reported general health perception inferior to norms, which was affected by the limited physical and emotional roles. At a late follow-up, the surgical morbidity was transient in the NEG and mostly recovered in the EG. The QoL comparison between eloquent and non-eloquent cavernomas created interesting and new data after prolonged follow-up. These results add value for decision-making as well as patient counseling for future encountered cases. Preoperative evaluation of QoL is recommended for future studies to assess QoL dynamics.

scholarly journals Long term outcome of combined phacoemulsification and excisional goniotomy with the Kahook Dual Blade in different subtypes of glaucoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ahmed Al Habash ◽  
Abdulrahman Albuainain
Keyword(s):  
Case Series ◽  
Angle Closure ◽  
Combined Surgery ◽  
Visual Rehabilitation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Kahook Dual Blade ◽  
Significant Cataract

AbstractTo characterize changes in intraocular pressure (IOP) and IOP-lowering medications through up to 2 years of follow-up in patients undergoing combined phacoemulsification and excisional goniotomy with the Kahook Dual Blade (phaco-KDB), with simultaneous goniosynechialysis in cases of angle-closure glaucoma. Prospective, non-comparative, interventional case series. Consecutive patients with medically-treated glaucoma and visually-significant cataract underwent combined surgery. Analysis was conducted on open-angle (OAG) and angle-closure (ACG) glaucoma groups separately. Thirty-seven patients with OAG (24 with primary OAG and 13 with pseudoexfoliation glaucoma) and 11 with ACG were enrolled. In OAG eyes, mean (standard error) baseline IOP was 21.1 (0.9) mmHg and through 24 months of follow-up was reduced by 6.4–7.7 mmHg (24.6–32.1%; p ≤ 0.0001 at all time points). In ACG eyes, mean baseline IOP was 20.8 (1.6) mmHg and was reduced by 6.1–8.77 mmHg (23.4–39.0%; p ≤ 0.0353). Mean medications were reduced by 61.9–89.1% (p ≤ 0.0001) in OAG eyes and by 56.3–87.3% (p ≤ 0.0004) in ACG eyes. Phaco-KDB significantly lowered IOP ~ 30% and medications by > 50% through 24 months. This combined procedure provides meaningful long-term reductions in IOP and need for IOP-lowering medication and does not adversely affect visual rehabilitation in eyes with cataract and glaucoma.

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