scholarly journals Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

2020 ◽  
pp. 088307382097799
Author(s):  
Eva Wibbeler ◽  
Raymond Wang ◽  
Emily de los Reyes ◽  
Nicola Specchio ◽  
Paul Gissen ◽  
...  
Keyword(s):  
Treatment Duration ◽  
Chart Review ◽  
Rating Scale ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Case Series ◽  
Language Function ◽  
Retrospective Case ◽  
Function Loss ◽  
Clinical Rating Scale

Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, and/or progression. Intracerebroventricular-administered cerliponase alfa (rhTPP1 enzyme) has been shown to stabilize motor and language function loss in patients with classic CLN2 disease, but its impact on individuals with atypical phenotypes has not been described. Methods: A chart review was conducted of 14 patients (8 male, 6 female) with atypical CLN2 phenotypes who received cerliponase alfa. Pre- and posttreatment CLN2 Clinical Rating Scale Motor and Language (ML) domain scores were compared. Results: Median age at first presenting symptom was 5.9 years. First reported symptoms were language abnormalities (6 [43%] patients), seizures (4 [29%]), ataxia/language abnormalities (3 [21%]), and ataxia alone (1 [7%]). Median age at diagnosis was 10.8 years. ML score declined before treatment in 13 (93%) patients. Median age at treatment initiation was 11.7 years; treatment duration ranged from 11 to 58 months. From treatment start, ML score remained stable in 11 patients (treatment duration 11-43 months), improved 1 point in 1 patient after 13 months, and declined 1 point in 2 patients after 15 and 58 months, respectively. There were 13 device-related infections in 8 patients (57%) and 10 hypersensitivity reactions in 6 (43%). Conclusions: Cerliponase alfa is well tolerated and has the potential to stabilize motor and language function in patients with atypical phenotypes of CLN2 disease.

scholarly journals Effectiveness and Safety of Sitagliptin in Patients with Beta-thalassaemia Major and Diabetes Mellitus: A Case Series

2016 ◽  
Vol 9 (1) ◽  
pp. e2017004 ◽  
Author(s):  
Shahrzad Zonoozi
Keyword(s):  
Diabetes Mellitus ◽  
Case Series ◽  
Close Monitoring ◽  
Thalassaemia Major ◽  
Efficacy And Safety ◽  
Antidiabetic Agent ◽  
Retrospective Case ◽  
Beta Thalassaemia ◽  
Equivalent Reduction

Sitagliptin, a modern antidiabetic agent which is weight neutral and associated with low rate of hypoglycaemias, is being increasingly used in type 2 diabetes mellitus (DM). However there is paucity of data about its efficacy and safety in beta-thalassaemia major (β-TM).This retrospective case series of five patients (mean age of 45 years) is the first study evaluating the use of sitagliptin in patients with β-TM and DM.Four patients responded well to sitagliptin, as evidenced by decrease in fructosamine by 77 and 96µmol/L (equivalent reduction in HbA1c of 1.5% and 1.9%) observed in two patients and reduction in the frequency of hypoglycaemia without worsening glycaemic control in two others. One patient did not respond to sitagliptin. No patients reported significant side effects.This study provides evidence that sitagliptin may be considered, with caution, for use in patients with β-TM and DM, under the close monitoring of a Diabetologist.

scholarly journals Relationship between Drug-Induced Sleep Endoscopy Findings, Tonsil Size, and Polysomnographic Outcomes of Adenotonsillectomy in Children

2019 ◽  
Vol 161 (3) ◽  
pp. 507-513 ◽  
Author(s):  
Derek J. Lam ◽  
Natalie A. Krane ◽  
Ron B. Mitchell
Keyword(s):  
Rating Scale ◽  
Tertiary Care ◽  
Case Series ◽  
Apnea Hypopnea Index ◽  
Strongly Correlated ◽  
Sleep Endoscopy ◽  
Retrospective Case ◽  
Drug Induced ◽  
Failure Assessment ◽  
The Relationship

Objective (1) Determine the correlation of awake tonsil scores and preadenotonsillectomy (pre-AT) sleep endoscopy findings. (2) Assess the relationship between polysomnographic AT outcomes with awake tonsil scores and sleep endoscopy ratings of tonsil and adenoid obstruction. Study Design Retrospective case series with chart review. Setting Tertiary care children’s hospital. Subjects and Methods Children aged 1 to 18 years who underwent sleep endoscopy and AT from January 1, 2013, to August 30, 2016, were included. Pre-AT sleep endoscopy findings were scored with the Sleep Endoscopy Rating Scale. Awake tonsil scores and sleep endoscopy ratings were compared with Spearman correlation. Associations between changes in pre- and post-AT polysomnography parameters and (1) awake tonsil scoring and (2) sleep endoscopy scoring were assessed with 1-way analysis of variance and linear regression. Results Participants included 36 children (mean ± SD age, 6.8 ± 4.3 years; 68% male, 44% obese). Awake tonsil scores and sleep endoscopy ratings were strongly correlated ( R = 0.58, P = .003). Awake tonsil scores were not associated with changes in any polysomnography parameters after AT (all P > .05), while sleep endoscopy ratings of adenotonsillar obstruction were significantly associated (all P < .05, R2 = 0.16-0.35). Patients with minimal adenotonsillar obstruction during sleep endoscopy had less improvement than those with partial or complete obstruction (mean obstructive apnea-hypopnea index change: −8.2 ± 11.5 vs −15.9 ± 14.3, and −46.8 ± 31.3, respectively; P < .001). Conclusions In children at risk for AT failure, assessment of dynamic collapse with sleep endoscopy may better predict the outcome of AT than awake tonsil size assessment, thus helping to inform surgical expectations.

Pramipexole: Augmentation in the Treatment of Depressive Symptoms

CNS Spectrums ◽  
2006 ◽  
Vol 11 (3) ◽  
pp. 172-175 ◽  
Author(s):  
Sanjay Gupta ◽  
Jennifer L. Vincent ◽  
Bradford Frank
Keyword(s):  
Depressive Symptoms ◽  
Treatment Regimen ◽  
Rating Scale ◽  
Bipolar Depression ◽  
Case Series ◽  
Unipolar Depression ◽  
Off Label Use ◽  
Retrospective Case ◽  
Off Label ◽  
Hamilton Rating Scale

ABSTRACTWe describe a retrospective case series of three patients, two with bipolar depression and one with unipolar depression. Pramipexole is a Food and Drug Administration-approved antiparkinsonian agent, which, when used to augment antidepressants, would be considered an off-label use and should be discussed with the patient. These patients had robust responses to pramipexole augmentation of their treatment regimen. All three patients had been taking an atypical antipsychotic. The depressive symptoms were evaluated using the Hamilton Rating Scale for Depression.

scholarly journals Clinical Features of Idiopathic Parotid Pain Triggered by the First Bite in Japanese Patients with Type 2 Diabetes: A Case Study of Nine Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Masatoshi Chiba ◽  
Hiroaki Hirotani ◽  
Tetsu Takahashi
Keyword(s):  
Type 2 Diabetes ◽  
Clinical Features ◽  
Rating Scale ◽  
Numerical Rating Scale ◽  
Trigger Factor ◽  
Case Review ◽  
Retrospective Case ◽  
Pain Characteristics ◽  
First Bite Syndrome

Objective. First bite syndrome, characterized by pain in the parotid region after the first bite of each meal, predominantly develops in patients who have had head and neck surgery. Idiopathic parotid pain (IPP) that mimics first bite syndrome may present in patients without a history of surgery or evidence of an underlying tumor, but its clinical features are unclear. This study characterized the clinical characteristics of IPP in patients with diabetes. Study Design. A retrospective case review involving the clinical findings and pain characteristics of nine patients with IPP and diabetes who presented to our department between 2013 and 2016. Results. All the patients were men diagnosed with type 2 diabetes (median age, 43 years). IPP developed unilaterally in seven patients and bilaterally in two. The median intensity of the first bite pain was 8 on a numerical rating scale of 0–10. The trigger factor was gustatory stimuli, and the trigger area was the posterior section of the tongue. Postprandial pain occurred within 1–10 min after meals in six patients. Conclusions. IPP may be considered a separate disorder, in which the pain characteristics are similar to those of first bite syndrome but the clinical features and pathophysiology are different.

Dysphagia characteristics in Huntington’s disease patients: insights from the Fiberoptic Endoscopic Evaluation of Swallowing and the Swallowing Disturbances Questionnaire

CNS Spectrums ◽  
2018 ◽  
Vol 24 (04) ◽  
pp. 413-418 ◽  
Author(s):  
Yael Manor ◽  
Yael Oestreicher-Kedem ◽  
Alona Gad ◽  
Jennifer Zitser ◽  
Achinoam Faust-Socher ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Oropharyngeal Dysphagia ◽  
Case Series ◽  
Solid Food ◽  
Self Report ◽  
Endoscopic Evaluation ◽  
Retrospective Case ◽  
Tertiary Referral Center

BackgroundHuntington’s disease (HD) is a neurodegenerative disease characterized by increasing dysphagia as the disease progresses. Specific characteristics of the HD dysphagia are not well defined.ObjectiveTo characterize the swallowing disturbances of HD patients, to evaluate the feasibility of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in assessing dysphagia in HD patients, and to discern the relation between FEES findings and patients’ self-report on dysphagia symptoms and swallowing related quality of life (SWAL-QOL).MethodA retrospective case series in a tertiary referral center. All recruited HD patients underwent Bed Side Swallowing Evaluation (BSE), FEES, the Unified Huntington’s Disease Rating Scale (UHDRS), and the Montreal Cognitive Assessment (MoCA). All completed the Swallowing Disturbances Questionnaire (SDQ) and the SWAL-QOL questionnaire.ResultsFourteen HD patients were recruited. All were able to complete the FEES study. The FEES demonstrated delayed swallowing reflex, solid food residues, and pre/post swallowing spillage in most patients (50%, 53.5%, 83.3%, and 87.5%, respectively). The mean SDQ score was 13.2. Significant correlations were found between the SWAL-QOL fear of eating score; the SDQ oral, pharyngeal, and total scores; and the FEES parameters of pureed and solid food bolus flow time. Significant correlations were also found between the total UHDRS score, the volitional cough score, and the SWAL-QOL disease burden score.ConclusionHD patients exhibit prominent unique oropharyngeal dysphagia features that may serve as a marker of disease progression. The FEES and the SDQ are valuable tools for detecting these features in HD patients with swallowing disturbance.

Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience

2020 ◽  
pp. 019459982096662
Author(s):  
Josephine A. Czechowicz ◽  
Tania Benjamin ◽  
Randall A. Bly ◽  
Sheila N. Ganti ◽  
Daniel M. Balkin ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Treatment Duration ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Case Series ◽  
Female Gender ◽  
Airway Disease ◽  
Retrospective Case ◽  
Crucial Component ◽  
High Prevalence

Objective To describe the prevalence and clinical characteristics of airway findings in a multi-institutional cohort of PHACE patients. Study Design Multicenter retrospective case series. Setting Multidisciplinary vascular anomalies clinics at 2 institutions. Methods Data were collected from the electronic medical record, including clinical presentation, airway findings, treatment, and outcomes. Results Of 55 PHACE patients, 22 (40%) had airway hemangiomas. Patients with airway involvement were more commonly female ( P = .034, odds ratio [OR] 23, 95% confidence interval [CI] 1.3-410) and of Caucasian ethnicity ( P = .020, OR 5.3, 95% CI 1.3-21). Anatomically, patients with bilateral S3 involvement had higher rates of airway disease ( P = .0012, OR 15, 95% CI 2.9-77). Most patients with airway hemangiomas had stridor (68%). Of the patients managed in the propranolol era (2008 or later, n = 35), 14 had airway involvement. All 14 were treated with propranolol, whereas 13 (62%) of 21 nonairway patients were treated with propranolol. The average treatment duration was longer in the airway patients (22.1 vs 16.7 months). All patients who underwent tracheostomy (n = 4) did so before 2008. Conclusion Risk factors for airway involvement in PHACE include female gender, Caucasian ethnicity, and stridor. Since the widespread use of propranolol, fewer patients have required surgical management of their airway disease. Given the high prevalence of airway involvement even in patients without stridor, assessment of the airway is a crucial component of a comprehensive PHACE workup.

scholarly journals Neuronal ceroid lipofuscinosis type 2: an Australian case series

2020 ◽  
Vol 56 (8) ◽  
pp. 1210-1218 ◽  
Author(s):  
Alexandra M Johnson ◽  
Simone Mandelstam ◽  
Ian Andrews ◽  
Katja Boysen ◽  
Joy Yaplito‐Lee ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Case Series ◽  
Ceroid Lipofuscinosis ◽  
Australian Case

Spina bifida and lower limb amputation in Northern Ireland: A retrospective study of demographics and outcome

2017 ◽  
Vol 41 (5) ◽  
pp. 503-506 ◽  
Author(s):  
Lorraine Graham
Keyword(s):  
Spina Bifida ◽  
Lower Limb ◽  
Chart Review ◽  
Case Series ◽  
Lower Limb Amputation ◽  
Limb Amputation ◽  
Retrospective Case ◽  
Younger Age ◽  
Chronic Skin ◽  
Almost All

Background: Spina bifida is an uncommon cause for lower limb amputation. The causes and level of amputation and mobility outcome for these patients have not been reported previously. Case description: To identify the causes and level of amputation and the mobility outcome for amputee patients with spina bifida. Study design: Retrospective case series. Methods: Chart review of patients identified by computer as having an amputation secondary to neurological or congenital cause. Additional patients identified from the Regional Spina Bifida Medical Clinic. Demographics, cause and level of mobility pre- and post-amputation recorded from the prosthetic notes. Findings: In total, 16 patients were identified who had a diagnosis of spina bifida and a lower limb amputation. Mean age at the time of amputation was 28.5 years. In total, 15 patients had a transtibial amputation. In total, 14 patients post-amputation were able to maintain their mobility, wheelchair or walking, without any change in type of aid needed. Conclusion: Patients with spina bifida appear to require lower limb amputation at a younger age than patients with peripheral vascular disease. Almost all patients had prior chronic skin infection/osteomyelitis as precursors for amputation. The most common level for amputation was transtibial. Mobility was maintained for all patients, albeit for two in a more supported way. Clinical relevance Spina bifida is an uncommon reason for amputation. Patients, are often younger and medically complicated. Chronic skin ulceration, was the most common indication for amputation. Wheelchair or walking ambulance was maintained at the same level for most patients.

scholarly journals Anterior Cruciate Ligament Reconstruction with LARS Artificial Ligament—Clinical Results after a Long-Term Follow-Up

Joints ◽  
2018 ◽  
Vol 06 (02) ◽  
pp. 075-079 ◽  
Author(s):  
Paolo Parchi ◽  
Gianluca Ciapini ◽  
Carlo Paglialunga ◽  
Michele Giuntoli ◽  
Carmine Picece ◽  
...  
Keyword(s):  
Anterior Cruciate Ligament ◽  
Acl Reconstruction ◽  
Rating Scale ◽  
Cruciate Ligament ◽  
Case Series ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Patient Reported ◽  
Anterior Cruciate

Purpose The aim of this retrospective study was to evaluate the subjective and functional outcome of anterior cruciate ligament (ACL) reconstruction with the synthetic Ligament Advanced Reinforcement System (LARS) ligament. Methods Twenty-six patients were reviewed at an average follow-up of 11.6 years. Objective clinical evaluation was performed with stability tests. Patient-reported outcomes (Visual Analogue Scale, Knee Injury and Osteoarthritis Outcome Score, and Cincinnati Knee Rating Scale) were used to assess subjective and functional outcomes. Results Overall satisfactory results were obtained in 22 cases (84.6%). Four patients (15.4%) showed mechanical failure of the graft. No cases of synovitis or infection were reported. Conclusion LARS ligament can be considered a safe and suitable option for ACL reconstruction in carefully selected cases, especially elderly patients needing a rapid postoperative recovery. Level of Evidence Level IV, retrospective case series.

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