scholarly journals The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report

2019 ◽  
Vol 11 (3) ◽  
pp. 256-264
Author(s):  
Ken Momosaki ◽  
Jun Kido ◽  
Shiro Matsumoto ◽  
Atsuo Taniguchi ◽  
Tomoyuki Akiyama ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Pediatric Patients ◽  
Inspiratory Stridor ◽  
Involuntary Movements ◽  
Self Injury ◽  
Generalized Dystonia ◽  
To Receive ◽  
Hypoxanthine Guanine Phosphoribosyl Transferase

Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling these involuntary movements in their patients, and there are no established and effective treatments. A 6-month-old boy with LND presented with generalized dystonia and self-injury behavior that was alleviated after receiving S-adenosylmethionine (SAMe). His self-injury behavior completely resolved after he received SAMe and risperidone. Although he had often experienced inspiratory stridor because of laryngeal dystonia and frequently developed aspiration pneumonitis and bronchitis, no inspiratory stridor was noted after SAMe treatment. The patient is continuing to receive SAMe and risperidone. SAMe treatment alleviates dystonic movements and improves quality of life in pediatric patients with LND. Additional research is needed to determine the long-term safety and efficacy of SAMe and its appropriate dosage.

Long-term outcomes and prognostic factors in pediatric patients with severe traumatic brain injury and elevated intracranial pressure

2008 ◽  
Vol 2 (4) ◽  
pp. 240-249 ◽  
Author(s):  
Jay Jagannathan ◽  
David O. Okonkwo ◽  
Hian Kwang Yeoh ◽  
Aaron S. Dumont ◽  
Dwight Saulle ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Intracranial Pressure ◽  
Pediatric Patients ◽  
Elevated Intracranial Pressure ◽  
The Mean

Object The management strategies and outcomes in pediatric patients with elevated intracranial pressure (ICP) following severe traumatic brain injury (TBI) are examined in this study. Methods This study was a retrospective review of a prospectively acquired pediatric trauma database. More than 750 pediatric patients with brain injury were seen over a 10-year period. Records were retrospectively reviewed to determine interventions for correcting ICP, and surviving patients were contacted prospectively to determine functional status and quality of life. Only patients with 2 years of follow-up were included in the study. Results Ninety-six pediatric patients (age range 3–18 years) were identified with a Glasgow Coma Scale score < 8 and elevated ICP > 20 mm Hg on presentation. The mean injury severity score was 65 (range 30–100). All patients were treated using a standardized head injury protocol. The mean time course until peak ICP was 69 hours postinjury (range 2–196 hours). Intracranial pressure control was achieved in 82 patients (85%). Methods employed to achieve ICP control included maximal medical therapy (sedation, hyperosmolar therapy, and paralysis) in 34 patients (35%), ventriculostomy in 23 patients (24%), and surgery in 39 patients (41%). Fourteen patients (15%) had refractory ICP despite all interventions, and all of these patients died. Seventy-two patients (75%) were discharged from the hospital, whereas 24 (25%) died during hospitalization. Univariate and multivariate analysis revealed that the presence of vascular injury, refractory ICP, and cisternal effacement at presentation had the highest correlation with subsequent death (p < 0.05). Mean follow-up was 53 months (range 11–126 months). Three patients died during the follow-up period (2 due to infections and 1 committed suicide). The mean 2-year Glasgow Outcome Scale score was 4 (median 4, range 1–5). The mean patient competency rating at follow-up was 4.13 out of 5 (median 4.5, range 1–4.8). Univariate analysis revealed that the extent of intracranial and systemic injuries had the highest correlation with long-term quality of life (p < 0.05). Conclusions Controlling elevated ICP is an important factor in patient survival following severe pediatric TBI. The modality used for ICP control appears to be less important. Long-term follow-up is essential to determine neurocognitive sequelae associated with TBI.

Clinical outcome after 450 revascularization procedures for moyamoya disease

2009 ◽  
Vol 111 (5) ◽  
pp. 927-935 ◽  
Author(s):  
Raphael Guzman ◽  
Marco Lee ◽  
Achal Achrol ◽  
Teresa Bell-Stephens ◽  
Michael Kelly ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Characteristics ◽  
Pediatric Patients ◽  
Consecutive Series ◽  
Modified Rankin Scale ◽  
Surgical Data ◽  
Revascularization Surgery

Object Moyamoya disease (MMD) is a rare cerebrovascular disease mainly described in the Asian literature. To address a lack of data on clinical characteristics and long-term outcomes in the treatment of MMD in North America, the authors analyzed their experience at Stanford University Medical Center. They report on a consecutive series of patients treated for MMD and detail their demographics, clinical characteristics, and long-term surgical outcomes. Methods Data obtained in consecutive series of 329 patients with MMD treated microsurgically by the senior author (G.K.S.) between 1991 and 2008 were analyzed. Demographic, clinical, and surgical data were prospectively gathered and neurological outcomes assessed in postoperative follow-up using the modified Rankin Scale. Association of demographic, clinical, and surgical data with postoperative outcome was assessed by chi-square, uni- and multivariate logistic regression, and Kaplan-Meier survival analyses. Results The authors treated a total of 233 adult patients undergoing 389 procedures (mean age 39.5 years) and 96 pediatric patients undergoing 168 procedures (mean age 10.1 years). Direct revascularization technique was used in 95.1% of adults and 76.2% of pediatric patients. In 264 patients undergoing 450 procedures (mean follow-up 4.9 years), the surgical morbidity rate was 3.5% and the mortality rate was 0.7% per treated hemisphere. The cumulative 5-year risk of perioperative or subsequent stroke or death was 5.5%. Of the 171 patients presenting with a transient ischemic attack, 91.8% were free of transient ischemic attacks at 1 year or later. Overall, there was a significant improvement in quality of life in the cohort as measured using the modified Rankin Scale (p < 0.0001). Conclusions Revascularization surgery in patients with MMD carries a low risk, is effective at preventing future ischemic events, and improves quality of life. Patients in whom symptomatic MMD is diagnosed should be offered revascularization surgery.

803 LONG TERM HEALTH-RELATED QUALITY OF LIFE OUTCOMES IN PEDIATRIC PATIENTS UNDERGOING TOTAL PANCREATECTOMY WITH ISLET AUTOTRANSPLANTATION

2020 ◽  
Vol 158 (6) ◽  
pp. S-1530-S-1531
Author(s):  
Michael E. Johnston ◽  
Al-Faraaz Kassam ◽  
Alexander R. Cortez ◽  
Tom K. Lin ◽  
Maisam Abu-El-Haija ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Pediatric Patients ◽  
Total Pancreatectomy ◽  
Health Related Quality ◽  
Life Outcomes ◽  
Related Quality ◽  
Health Related ◽  
Islet Autotransplantation

scholarly journals Skin Disease in Children: Effects on Quality of Life, Stigmatization, Bullying, and Suicide Risk in Pediatric Acne, Atopic Dermatitis, and Psoriasis Patients

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1057
Author(s):  
Katherine A. Kelly ◽  
Esther A. Balogh ◽  
Sebastian G. Kaplan ◽  
Steven R. Feldman
Keyword(s):  
Quality Of Life ◽  
Atopic Dermatitis ◽  
Family Relationships ◽  
Pediatric Patients ◽  
Skin Diseases ◽  
Management Options ◽  
Self Image ◽  
Chronic Skin

Acne, atopic dermatitis (AD), and psoriasis are all chronic dermatologic conditions that greatly impact the lives of pediatric patients and their caregivers. The visible nature of these diseases negatively affects the self-image of children early in life as well as their relationships with their families and peers. Physicians recognize the importance of addressing both the physical and mental symptoms of their patients but are currently not equipped with clear guidelines to manage long-term psychosocial comorbidities in pediatric dermatologic patients. A PubMed and Google Scholar search of key words was conducted to explore self-image in pediatric patients with acne, AD, and psoriasis. Chronic skin diseases put pediatric patients at risk for strained family relationships, poor self-image, psychiatric comorbidities, stigmatization, and eventual suicidal behavior. A limitation of this study is a lack of a validated measure of quality of life in the pediatric population that fulfills enough criteria to evaluate long term quality of life in children and adults. Possible management options, including connecting patients with the same diagnosis and allocating resources to parents and teachers to better understand these chronic skin conditions, may provide pediatric patients with the support they need to develop resilience in the face of these challenges.

Limb Salvage and Amputation in Survivors of Pediatric Lower-Extremity Bone Tumors: What Are the Long-Term Implications?

2002 ◽  
Vol 20 (22) ◽  
pp. 4493-4501 ◽  
Author(s):  
Rajaram Nagarajan ◽  
Joseph P. Neglia ◽  
Denis R. Clohisy ◽  
Leslie L. Robison
Keyword(s):  
Quality Of Life ◽  
Lower Extremity ◽  
Limb Salvage ◽  
Lower Limb ◽  
Bone Tumors ◽  
Pediatric Patients ◽  
Population Based ◽  
Surgical Approaches

ABSTRACT: The past four decades have seen tremendous progress in the treatment of pediatric and adolescent cancers. As a consequence, there are increasing numbers of adult childhood cancer survivors. This has prompted investigation into the long-term consequences of cancer treatments. One group that merits special study is the survivors of lower-extremity bone tumors. Their function and quality of life may depend in part on both the surgery and the age at which it was performed. Comparisons between studies are difficult because small numbers of patients and the use of varying research designs and methods have limited research in this area. The purpose of this article is to review the major surgical approaches to lower-limb bone tumors and their impact on pediatric patients. The results show that survival is equivalent between amputation and limb salvage. Complications occur more frequently in limb salvage. The long-term outcomes of those undergoing amputation and limb salvage have not been found to be substantially different in regard to quality of life. In conclusion, prospective long-term follow-up of pediatric patients with lower-limb tumors is needed to (1) determine in a uniform manner the long-term complications, quality of life, and functionality of this population and describe differences within this patient population based on age at diagnosis and surgical procedure, (2) identify areas of concern that are amenable to intervention, and (3) provide clinicians and future patients a better understanding of the surgical options.

Long term quality of life in pediatric patients surviving parotid tumors

2014 ◽  
Vol 78 (2) ◽  
pp. 235-237 ◽  
Author(s):  
Qi-Gen Fang ◽  
Shuang Shi ◽  
Xu Zhang ◽  
Mengjie Li ◽  
Fa-Yu Liu ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Pediatric Patients ◽  
Parotid Tumors

Thinking Beyond Language: Intervention for Severe Aphasia

2009 ◽  
Vol 19 (1) ◽  
pp. 15-22 ◽  
Author(s):  
Nina Simmons-Mackie
Keyword(s):  
Quality Of Life ◽  
Communication Training ◽  
Language Intervention ◽  
Specific Training ◽  
Environmental Support ◽  
Total Communication ◽  
Communication Partners

Abstract Purpose: This article addresses several intervention approaches that aim to improve life for individuals with severe aphasia. Because severe aphasia significantly compromises language, often for the long term, recommended approaches focus on additional domains that affect quality of life. Treatments are discussed that involve increasing participation in personally relevant life situations, enhancing environmental support for communication and participation, and improving communicative confidence. Methods: Interventions that have been suggested in the aphasia literature as particularly appropriate for people with severe aphasia include training in total communication, training of communication partners, and activity specific training. Conclusion: Several intervention approaches can be implemented to enhance life with severe aphasia.

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