scholarly journals Dopa-responsive dystonia or Segawa disease in Ghana: a case report

Author(s):  
Ebenezer V Badoe

Dystonias are rare in childhood and consist of variably sustained twisting deformation of a limb or parts of a trunk. Dystonias can be considered primary because of a genetic disorder or secondary due to a central nervous system injury like cerebral palsy or medications. The rare dopa-responsive dystonia is often mistaken for cerebral palsy, stroke, localized limb trauma or conversion disorder. The aim of this report is to increase the awareness of a rare but eminently treatable type of dystonia known as dopa–responsive dystonia or Segawa disease. In this report a young girl with dystonia who was severely disabled and could not attend school was misdiagnosed as cerebral palsy for two years. After treatment with low dose L-dopa within 48 hours, a dramatic and sustained response with restoration of foot dystonia and mobility was observed. Recognition of L-dopa dystonia facilitates proper treatment and significant improvement in quality of life

Author(s):  
João Pedro Euriques Batista ◽  
Denize Moura de Souza ◽  
Vanessa Ghattás Testoni ◽  
Viviane Carla Pereira

INTRODUCTION: Cerebral palsy (CP) is characterized by postural, functional and tonus dysfunctions due to lesions in the Central Nervous System in the maturation phase. Physiotherapy inserts itself in the treatment of CP aiming to normalize dysfunctions, providing higher quality of life and autonomy. One of the most used methods for the treatment of these patients is the Bobath Neurodevelopmental Treatment (NDT). The prognosis and efficacy of treatment can be measured through instruments such as GMFM. OBJECTIVES: To evaluate the physiotherapeutic treatment based on NDT through the GMFM-88 scale in children with CP before and after intervention, quantitatively observing the evolution. METHODOLOGY: 8 patients were submitted to the GMFM scale before and after physiotherapeutic treatment. The treatment was carried out in the discipline of Pediatrics of a Community University. Quantitative data were tabulated and analyzed using simple descriptive statistics and GMAE-2 Software. RESULTS: A general evolution was observed in the neuropsychomotor development of patients or the maintenance of their condition. CONCLUSION: The results demonstrate that the physiotherapeutic treatment based on the Bobath Neurodevelopmental Treatment is effective for the evolution or maintenance of the gross motor function of the patients and that the GMFM instrument is effective in showing these results quantitatively. KEYWORDS: motor activity, cerebral palsy, proprioception, physiotherapy.


2019 ◽  
Vol 26 (7) ◽  
pp. 512-522
Author(s):  
Xian Li ◽  
Long Xia ◽  
Xiaohui Ouyang ◽  
Qimuge Suyila ◽  
Liya Su ◽  
...  

<P>Background: Despite new agent development and short-term benefits in patients with Colorectal Cancer (CRC), metastatic CRC cure rates have not improved due to high rates of oxaliplatin resistance and toxicity. There is an urgent need for effective tools to prevent and treat CRC and reduce morbidity and mortality of CRC patients. Exploring the effects of bioactive peptides on the antitumor to CRC was of vital importance to the clinical application. </P><P> Objective: This study aimed to investigate the therapeutic impact of Anticancer Bioactive Peptides (ACBP) on anticancer effect of oxaliplatin (LOHP) in human colorectal cancer xenografts models in nude mice. </P><P> Methods: HCT-116 cells were cultured in vitro via CCK-8 assays and the absorbance was measured at 450 nm. Apoptosis and cell cycle were assessed by Flow Cytometry (FCM) in vitro. HCT-116 human colorectal cancer cells inoculated subcutaneously in nude mice of treatment with PBS (GG), ACBP, LOHP, ACBP+LOHP (A+L) in vivo. The quality of life was assessed by dietary amount of nude mice, the weight of nude mice, inhibition rates, tumor weight and tumor volume. Immunohistochemistry and RT-qPCR method was conducted to determine the levels of apoptosisregulating proteins/genes in transplanted tumors. </P><P> Results: ACBP induced substantial reductions in viable cell numbers and apoptosis of HCT116 cells in combined with LOHP in vitro. Compared with the control GG group, ACBP combined low dose oxaliplatin (U) group demonstrated significantly different tumor volume, the rate of apoptosis, the expression levels of Cyt-C, caspase-3,8,9 proteins and corresponding RNAs (P<0.05). The expression of pro-apoptotic proteins in the cytoplasm around the nucleus was significantly enhanced by ACBP. Short term intermittent use of ACBP alone indicted a certain inhibitory effect on tumor growth, and improve the quality of life of tumor bearing nude mice. </P><P> Conclusion: ACBP significantly increased the anti-cancer responses of low dose oxaliplatin (L-LOHP), thus, significantly improving the quality of life of tumor-bearing nude mice.</P>


2020 ◽  
Vol 40 (11) ◽  
pp. 6443-6456
Author(s):  
NAOYUKI OGASAWARA ◽  
MAKOTO NAKIRI ◽  
HIROFUMI KUROSE ◽  
KOSUKE UEDA ◽  
KATSUAKI CHIKUI ◽  
...  

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii438-iii438
Author(s):  
Kathleen Dorris ◽  
Jessica Channell ◽  
Ashley Mettetal ◽  
Molly Hemenway ◽  
Natalie Briones ◽  
...  

Abstract BACKGROUND Cannabinoids, including cannabidiol (CBD) and tetrahydrocannabinol (THC), are a class of compounds found in marijuana. Numerous studies in adults have examined cannabinoid use in management of cancer-related symptoms such as nausea, anorexia, and pain. Less is known about the use in the pediatric oncology population. METHODS A prospective observational study has been ongoing since 2016 at Children’s Hospital Colorado to evaluate cannabinoids’ impact using PedsQL™ modules on quality of life of pediatric patients with central nervous system (CNS) tumors who are 2–18 years old. Laboratory assessments of T-cell activity and pharmacokinetics of CBD, THC and associated metabolites are in process. Diaries with exploratory information on cannabinoid use patterns are being collected. RESULTS Thirty-three patients (14:19; male:female) have been enrolled with a median age of 6.4 years (range, 2.9–17.7 years). The most common tumor type in enrolled patients is embryonal tumors (13/33; 39%). Nine (27%) patients have low-grade glial/glioneuronal tumors, and eight (24%) had high-grade/diffuse midline gliomas. The remaining patients had ependymoma or craniopharyngioma. The median time on cannabinoids is 9 months. Most (n=20) patients have used oral products with CBD and THC. One patient continues on cannabinoid therapy in follow up. Preliminary immune function analyses identified impaired neutrophil superoxide anion production and chemotaxis in patients taking cannabinoids at early time points on therapy. CONCLUSIONS Families of children with various CNS tumors are pursuing cannabinoid therapy for both antitumor and supportive care purposes. Analysis of the impact of cannabinoids on patients’ quality of life is ongoing.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Catherine Arnaud ◽  
Carine Duffaut ◽  
Jérôme Fauconnier ◽  
Silke Schmidt ◽  
Kate Himmelmann ◽  
...  

Abstract Background Effective inclusion in society for young people with disabilities is increasingly seen as generating opportunities for self-development, and improving well-being. However, significant barriers remain in the vast majority of activities meaningful for young adults. Research argues that various personal (disabilities, health) and environmental (access to the resources needed, accessible environment, discrimination, lack of personal economic independence) factors contribute to limited participation. However, previous studies conducted in young people with cerebral palsy (CP) mainly investigated the transition period to adulthood, and did not fully consider the whole range of impairment severity profiles or environmental barriers. In this study, we will use the follow-up of the SPARCLE cohort and a comparison group from the general population (1) to investigate the impact of the environment on participation and quality of life of young adults with CP, (2) to determine predictors of a successful young adulthood in educational, professional, health and social fields, (3) to compare quality of life and frequency of participation in social, work and recreational activities with the general population, (4) to document on participation and quality of life in those with severe disabilities. Methods The SPARCLE3 study has a combined longitudinal and cross-sectional design. Young adults with CP aged 22 to 27 years in 6 European regions previously enrolled in the SPARCLE cohort or newly recruited will be invited to self-complete a comprehensive set of questionnaires exploring participation (daily life and discretionary activities), health-related quality of life, body function, personal factors (health, personal resources), and contextual factors (availability of needed environmental items, family environment, services provision) during home visits supervised by trained researchers. Proxy-reports or adapted questionnaires will be used for those with the most severe impairments. The recruitment of a large group from the general population (online survey) will enable to identify life areas where the discrepancies between young people with CP and their able-bodied peers are the most significant. Discussion This study will help identify to what extent disabilities and barriers in environment negatively affect participation and quality of life, and how previous valued experiences during childhood or adolescence might modulate these effects.


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