Management and Therapeutic Strategies for Spinal Muscular Atrophy
Published on: 29th March, 2024
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.
Death Wishes, Aging Patients, and Euthanasia
Published on: 12th March, 2024
The authors are searchers in psychopathology and communicate here about the dead wishes in relation to euthanasia. In Europe, the question comes regularly up to know if the law should be changed concerning the prohibition of euthanasia. The health system obeys progressively a modern idea of comfort and the “good life”. The authors are psychotherapists and their methodology is based mainly on phenomenological psychology, psychoanalysis, and psychopathology. Statistics of the French Ministry of Health will support their statements. Different clinical experiences with young patients, aging patients, or near-to-death patients are crossed and compared to those marked by heavy experiences like rape or amputation. The unbearable nature of their suffering makes them ask frequently to stop the pain. They would prefer being dead. This contribution examinates this kind of demand to find a helpful position for the caregiver and the patient. We should consider that near-death patients may often be at the climax of anxiety and depression is likely to switch over to dementia. In asking to finish with life, this purpose may change one day to another – sometimes it just highlights the wish to see things changed. The position of society and the medical staff has a high influence as well. Asking for euthanasia shows the variety of the same words that have different meanings from a medical, psychological, or psychopathological viewpoint. The purpose is to consider these aspects with the patient’s demand.
Blog Section
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- Prevalence
- Malaria
- Pancreatic cancer
- Essuki
- Bacteria
- VSSP
- Coronary artery disease
- Bladder cancer
- Orthopoxvirus
- Beta-thalassemia major
- Promontofixation
- Dietary supplements
- Adolescent
- Abdominal obesity, Nutrition, Physical activity, Lifestyle modification program, Fiber adequacy
- Tanker water
- Age related changes
- Ficus thoningii
- Biological groups of nucleotides
- Prevention
- Temporomandibular joint
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testimonials
"This is my first time publishing with the journal/publisher. I am impressed at the promptness of the publishing staff and the professionalism displayed. Thank you for encouraging young researchers li...
Ekiti State University, Nigeria
Adebukola Ajite
The Clinical Journal of Obstetrics and Gynecology is an open access journal focused on scientific knowledge publication with emphasis laid on the fields of Gynecology and Obstetrics. Their services to...
Carole Assontsa
I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many inter...
College of Fisheries, CAU(I), Tripura, India
Ajit Kumar Roy
To the editorial team at HSPI and the Journal of Clinical Nephrology: Thank you so much for your hard work and collaboration in bringing our article to life. Your staff was responsive, flexible, and ...
Alejandro Munoz
I very much appreciate the humanitarian services provided in my stead by this journal/publisher. It exhibits total absence of editorial impertinence. As an Author, I have been guided to have a fruitf...
Chrysanthus Chukwuma
''Co-operation of Archives of Surgery and Clinical Research journal is appreciable. I'm impressed at the promptness of the publishing staff and the professionalism displayed. Thank you very much for y...
Anıl Gokce
I wanna to thank Clinical Journal of Nursing Care and Practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Atsedemariam Andualem
Thank you very much. I think the review process and all of what concerns the administration of the publication concerning our paper has been excellent. The nice and quick answers have been very good I...
Doris Nilsson
Thanks you and your colleague for the great help for our publication. You always provide prompt responses and high quality of service. I am so happy to have you working with me. Thanks again!
Diana (Ding) Dai
It was a great experience publishing through JCICM. The article has reached out to several institutions. Appreciate your professional work. Hope to work with you again