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
- Diabetes
- Florfenicol
- Myeloproliferative neoplasms
- Breastfed infant
- HIV
- Dietary supplements
- Physical symptoms
- Cholera
- Orbital floor fracture
- Microplastics
- Cystoisospora belli
- RT-PCR
- Adolescence
- Local domestic turkey
- Colorectal cancer
- Biological post
- Aquatic toxicity
- Colorectal cancer
- Molecular biology
- Psoas abscess
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testimonials
Great, We are too comfortable with the process including the peer review process and quality. But, the journal should be indexed in different databases such scopus.
Afework Edmealem
I would like to thank JPRA for taking this decision. I understand the effort it represents for you. I'm truly happy to have the paper published in JPRA. And I'll certainly consider JPRA for my next pu...
Emmanuel BUSATO
I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for ...
University of Agriculture, Pakistan
Muhammad Sarwar Khan
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
Publishing an article is a long process, but working with your publication department made things go smoothly, even though the process took exactly 5 months from the time of submitting the article til...
Anas Diab
The service is nice and the time of processing the application is fast.
Department of Neurosurgery, Queen Elizabeth Hospit...
Long Ching
"It was a pleasure to work with the editorial team of the journal on the submission of the manuscript. The team was professional, fast, and to the point".
NC A&T State University, USA
Moran Sciamama-Saghiv
In my opinion, you provide a very fast and practical service.
Ahmet Eroglu
Your big support from researchers around the world is the best appreciation from your scientific teams. We believe that there should be no barrier in science and you make it real and this motto come ...
Arefhosseinir Rafi
I do appreciate for your service including submission, analysis, review, editorial and publishing process. I believe these esteemed journal enlighten the science with its high-quality personel.