The Role of Muscle Stem Cells in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) can result in dysfunctional muscle stem cells, which in turn drive DMD pathology.
Insights
Comparing the Perspectives of Patients and Clinicians on Hereditary Angioedema Care
It is vital that physicians and their patients are on the same page with regard to hereditary angioedema care.
Intrahepatic Cholangiocarcinoma Recurrence: A Problem That Demands a Solution
Cancer recurrence remains a significant hurdle in our quest to find a cure for cancer. The question of why some patients experience recurrence while others do not still remains a mystery. At present, the approach to predicting recurrence is largely based on statistical data. Physicians can primarily refer to the risk of recurrence of a…
A Rare Variant Responsible for Cardiac Manifestations in hATTR
The p.Ser43Asn variant is extremely rare and can be responsible for cardiac manifestations in patients with hATTR.
ST-Segment Elevation Myocardial Infarction: A Potential Complication of SCD
Epidemiological studies reveal that cardiovascular disease is a leading cause of death around the world. Specifically, the prevalence of ST-segment elevation myocardial infarction (STEMI) has steadily increased in recent years. Acute coronary syndrome (ACS), which encompasses STEMI, is one of the potential complications of sickle cell disease. It is often fatal. Cardiovascular disease represents a…
Improving the Timely Diagnosis of ALGS by Understanding Its Characteristic Features
Congenital genetic diseases sometimes display characteristic clinical manifestations that direct physicians to conduct the necessary tests to arrive at a correct diagnosis. However, other genetic diseases may be more insidious and are diagnosed only later in life (if at all), which means the early window for the initiation of critical medical intervention is missed. When…
How PAH Demonstrates the Interconnectivity of Medicine
Many diseases, including pulmonary arterial hypertension, cut across various medical specialties and require multidisciplinary cooperation.
Ensuring Sexual Health in Patients With Hemophilia
Although often overlooked, sexual dysfunction can occur in patients with hemophilia, negatively impacting quality of life.
Deciphering the Links Between Sexual Dysfunction and Myasthenia Gravis
Myasthenia gravis is a multisystem autoimmune disease that results in fatigable muscle weakness. There are various classes of the disease depending on its severity. In mild cases, only the extraocular muscles are involved; in severe cases, the throat and respiratory muscles are involved, leading to breathing difficulties. Among the lesser known symptoms of myasthenia gravis…
The Two Prongs of Therapeutic Strategies Used to Counter Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is inherited in an autosomal recessive manner and is caused by abnormalities in the survival motor neuron 1 (SMN1) gene. The overwhelming majority of patients with SMA have a homozygous deletion of the gene; only 5% of cases have a heterozygous deletion and a point mutation. “The SMN protein is critical…
- Loading...
Loading...
Want to read more?
Please login or register first to view this content.
Next post in SMA Insights
Loading... 
Loading...