scholarly journals Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

2020 ◽  
Vol 14 ◽  
Author(s):  
Adela Della Marina ◽  
Eva Wibbeler ◽  
Angela Abicht ◽  
Heike Kölbel ◽  
Hanns Lochmüller ◽  
...  
Keyword(s):  
Treatment Response ◽  
Pediatric Patients ◽  
Muscular Weakness ◽  
Congenital Myasthenic Syndromes ◽  
Follow Up Studies ◽  
Bulbar Symptoms ◽  
Long Term Follow Up ◽  
Myasthenic Syndromes

Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild symptoms to life-limiting forms with neonatal onset. Long-term follow-up studies on disease progression and treatment-response in pediatric patients are rare.Patients and Methods: We analyzed retrospective clinical and medication data in a cohort of 32 CMS-patients including the application of a standardized, not yet validated test (CMS-ST) to examine muscular strength and endurance in 21 patients at the last follow-up. Findings obtained in our cohort were compared with long-term follow-up studies of (adult) CMS-cohorts from the literature by considering the underlying molecular mechanisms. Outcomes of CMS-ST were compared to results of normal clinical assessment.Results: Thirty-two pediatric patients with defects in eight different CMS-genes were followed by a median time of 12.8 years. Fifty-nine percentage of patients manifested with first symptoms as neonates, 35% as infants. While 53% of patients presented a reduced walking distance, 34% were wheelchair-bound. Even under adequate therapy with pyridostigmine (PS) and 3,4-diaminopyridine, CHAT-mutations led to the progression of muscular weakness partly in combination with persistent respiratory and bulbar symptoms. RAPSN, CHRND, and CHRNB1 patients with neonatal manifestation, early respiratory problems, and bulbar symptoms showed a good and maintained treatment response. CHAT and CHRNE patients required higher PS dosages, whereas RAPSN patients needed a lower mean dosage at the last follow-up. The benefits of short-term medication and long-term progression of symptoms were highly dependent on the specific genetic defect. CMS-ST was carried out in 17/21 patients, determined affected muscle groups including bulbar and ocular symptoms, some of which were not reported by the patients.Conclusions: Our findings and comparison with the literature- suggest a better treatment-response and less severe progression of symptoms present in patients suffering from mutations in CMS-genes directly associated with receptor deficiency, while patients with defects leading to synaptopathy and presynaptic defects tend to have worse outcomes. Assessment of affected muscular groups and clinical symptoms by CMS-ST may be a useful tool for optimal therapeutic management of the patients, especially for future clinical studies.

P5.17 Congenital Myasthenic Syndromes with COLQ mutations: Long term follow-up

2011 ◽  
Vol 21 (9-10) ◽  
pp. 728-729 ◽  
Author(s):  
I. Wargon ◽  
P. Richard ◽  
T. Kuntzer ◽  
S. Nafissi ◽  
K. Gaudon ◽  
...  
Keyword(s):  
Congenital Myasthenic Syndromes ◽  
Long Term Follow Up ◽  
Myasthenic Syndromes

Long-Term Follow-Up of Patients with Congenital Myasthenic Syndromes: What Do We Learn?

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
E. Wibbeler ◽  
Marina Della ◽  
A. Abicht ◽  
H. Lochmüller ◽  
U. Schara
Keyword(s):  
Congenital Myasthenic Syndromes ◽  
Long Term Follow Up ◽  
Myasthenic Syndromes

scholarly journals Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up

2018 ◽  
Vol 28 (4) ◽  
pp. 315-322 ◽  
Author(s):  
Hacer Durmus ◽  
Xin-Ming Shen ◽  
Piraye Serdaroglu-Oflazer ◽  
Bulent Kara ◽  
Yesim Parman-Gulsen ◽  
...  
Keyword(s):  
Congenital Myasthenic Syndromes ◽  
Long Term Follow Up ◽  
Myasthenic Syndromes

How to Find Patients Who are 'Lost to Follow-up'

2010 ◽  
Vol 92 (3) ◽  
pp. 98-101 ◽  
Author(s):  
LC Biant ◽  
VK Eswaramoorthy ◽  
RE Field
Keyword(s):  
Surgical Interventions ◽  
Loss To Follow Up ◽  
Medical Interventions ◽  
Follow Up Studies ◽  
Long Term Follow Up ◽  
Lost To Follow Up

Long-term surveillance of patients is necessary to ascertain the outcome of medical interventions. The rate of 'loss to follow-up' is the largest controllable variable in long-term follow-up studies. Such surveillance programmes are of particular importance to surgical interventions as differences between techniques or implants may take years to become apparent.

scholarly journals Mid- to long-term follow-up of pediatric patients with coronary artery fistula

2016 ◽  
Vol 115 (7) ◽  
pp. 571-576 ◽  
Author(s):  
Mao-Hung Lo ◽  
I-Chun Lin ◽  
Kai-Sheng Hsieh ◽  
Chien-Fu Huang ◽  
Shao-Ju Chien ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Pediatric Patients ◽  
Coronary Artery Fistula ◽  
Long Term Follow Up

Adductor Spastic Dysphonia: 1 1/2 Years after Recurrent Laryngeal Nerve Resection

1981 ◽  
Vol 90 (1) ◽  
pp. 2-6 ◽  
Author(s):  
Arnold E. Aronson ◽  
Lawrence W. DeSanto
Keyword(s):  
Recurrent Laryngeal Nerve ◽  
Laryngeal Nerve ◽  
Physical Effort ◽  
Patients Âgés ◽  
Reduced Volume ◽  
Follow Up Studies ◽  
Long Term Follow Up ◽  
Selection Of

After recurrent laryngeal nerve resection for adductor spastic dysphonia, the voices of 37 patients (ages 39 to 79 years) were assessed 24 hours, 1 month, 6 months, and 1 year after surgery, and those of 33 patients up to 1 1/2 years after surgery. By 24 hours after surgery, 97% of patients had improved and 3% had failed; by 1 month, 97% were still improved while 3% had failed; by 6 months, 92% had maintained improvement while 8% had failed; by 1 year, 68% were still improved but 32% had failed; and by 1 1/2 years, 61% were still improved while 39% had failed. The patients whose voices improved varied from one another in both type and degree of residual dysphonia. The typical postsurgical voice was free of spasm, with some breathiness, hoarseness, and reduced volume being present. The voices of some patients approached normalcy. To most patients, relief from the physical effort to phonate was as important as the improved voice. Continued long-term follow-up studies and careful, collaborative selection of surgical candidates are needed.

scholarly journals T214. ANTIPSYCHOTIC TREATMENT PATTERNS AND EFFECTS DURING THE EARLY YEARS AMONG 316 NEWLY DIAGNOSED PATIENTS WITH SCHIZOPHRENIA FROM THE OPUS TRIAL

2020 ◽  
Vol 46 (Supplement_1) ◽  
pp. S314-S314
Author(s):  
Nikolai Albert ◽  
Karl Ole Köhler-Forsberg ◽  
Carsten Hjorthøj ◽  
Merete Nordentoft
Keyword(s):  
Early Intervention ◽  
Medical Treatment ◽  
Relapse Rate ◽  
Antipsychotic Medication ◽  
Negative Symptoms ◽  
Psychotic Symptoms ◽  
Follow Up Studies ◽  
Long Term Follow Up

Abstract Background In studies investigating the relapse rate of psychotic symptoms in patients diagnosed with schizophrenia there is a discrepancy between discontinuation studies finding a relapse rate up to 90% after discontinuation of antipsychotic medication and long-term follow-up studies finding approx. 30% of patients living without antipsychotic medication and psychotic symptoms. Long-term follow-up studies often have multiple follow-up assessments, but little is known about the use of medication in the intervals between the follow-up points. While register studies can follow large cohorts of patients, they are unable to investigate psychopathology and level of functioning in patients who discontinue their medication. In this study we use data from a clinical cohort with information on participants symptoms and functioning and combine them with register data on the individual participants prescriptions and hospitalizations. Methods The present study represents a combination of a clinical study from early intervention settings and register-based information on antipsychotic drug use and hospital contacts. For the present study, patients were included 18 months into their 24 months early intervention treatment and followed up 3 ½ year later. At baseline and follow-up we performed clinical assessments with all patients and via the Danish National Hospital Register and the Danish National Prescription Register, we had complete nationwide information for all patients identifying all redeemed prescriptions for antipsychotic drugs from 6 to 42 months after inclusion into the study. Based on medication information from the Danish National Prescription Register, we divided participants in the following four groups: 1) Non-users, 2) compliant on medication, 3) stopped but resumed later with medication, and 4) stopped with medication. Results Of the 316 participants included in this study 94.3% had I diagnosis of schizophrenia. In the 3 years preceding the 5 years follow-up 28.2% did not redeem any prescriptions for antipsychotics drugs while 21.2% discontinued their treatment during the follow-up, 20.9% discontinued their treatment but resumed later and 29.7% remained in stable treatment. At the 5 years follow-up the 30.3% of the Never-users where in competitive employment, the mean psychotic symptom score were 1.4 SD (1.4) and negative symptoms 1.1 SD (0.9). Whiles these results were worse for patients Compliant on medication (17%, 1.9 SD (1.3), 1.8 SD (1.0)), Stopped but resumed medication (10.6%, 22.4 SD (1.4), 1.5 SD (1.0)) and Stopped medication (17%, 1.6 SD (1.3), 1.3 SD (1.0)), respectively. Of the Never-user 23.6% were in remission of both positive and negative symptoms, while this was only the case for 12.8% of those compliant on medication. Discussion This study is a naturalistic cohort study and we are unable to draw any conclusion regarding the causality between symptoms remission and use of antipsychotic medication. The study shows that a substantial proportion of patients, for several years, can discontinue their medical treatment without being re-hospitalized and with lower symptoms burden then patients who continue their medical treatment. Some patients discontinue their treatment but resume it later. These patients have approximately the same functional level and psychotypological scores as those who are compliant with their medical treatment and are treated with equivalent doses of antipsychotic at the time of the follow-up.

Endoscopic Transventricular Transaqueductal Magendie and Luschka Foraminoplasty for Hydrocephalus

Neurosurgery ◽  
2013 ◽  
Vol 74 (4) ◽  
pp. 426-436 ◽  
Author(s):  
Jaime Torres-Corzo ◽  
Juan Sánchez-Rodríguez ◽  
Dominic Cervantes ◽  
Roberto Rodríguez-Della Vecchia ◽  
Fernando Muruato-Araiza ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Endoscopic Third Ventriculostomy ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Alternative Technique ◽  
Vp Shunt ◽  
Long Term Follow Up ◽  
Secondary Causes

ABSTRACT BACKGROUND: Routinely, hydrocephalus related to fourth ventricular outlet obstruction (FVOO) has been managed with ventriculoperitoneal (VP) shunting or endoscopic third ventriculostomy (ETV). Few reports on Magendie foraminoplasty exist, and Luschka foraminoplasty has not been described. OBJECTIVE: To present an alternative technique in the management of FVOO via an endoscopic transventricular transaqueductal Magendie and Luschka foraminoplasty and to discuss the indications, technique, findings, and outcomes. METHODS: Between 1994 and 2011, all patients who underwent endoscopic Magendie and Luschka foraminoplasty were analyzed. RESULTS: A total of 33 Magendie (28) and/or Luschka (5) foraminoplasties were performed in 30 patients. Twenty-three were adult and 7 were pediatric patients. The etiology of the FVOO was divided into primary etiologies (congenital membrane in 5 and atresia in 2) and secondary causes (neurocysticercosis in 14 patients, bacterial meningitis in 9). Fifteen (50%) had previously failed procedures. Intraoperative findings that led to Magendie/Luschka foraminoplasty were ETV not feasible to perform, nonpatent basal subarachnoid space, or primary FVOO. Minor postoperative complications were seen in 3 patients. Only 26 patients had long-term follow-up; 17 (65.3%) of these had clinical improvement and did not require further procedures. Nine (34.7%) did not improve. Eight required another procedure (7 shunts, and 1 endoscopic procedure). One patient died. CONCLUSION: Flexible neuroendoscopic transventricular transforaminal Magendie and Luschka foraminoplasty is feasible and safe. These procedures may prove to be viable alternatives to standard ETV and VP shunt in appropriate patients. Adequate intraoperative assessment of ETV success is necessary to identify patients who will benefit.

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