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Latest Posts
Craniofacial Disorders: Genes, Diagnosis, and Hope
Craniofacial disorders entail a wide spectrum of issues affecting the anatomy and development of the skull and face. These abnormalities, ranging from cleft lip and palate to craniosynostosis and Treacher-Collins syndrome, can have serious physical and mental consequences. Understanding the genetic links underlying craniofacial abnormalities is critical for proper diagnosis,…
The Risk and Benefits of the Ketogenic Diet: What You Should Know Before Starting
The ketogenic diet, frequently referred as the keto diet, has grown in popularity recently because of its potential to aid in weight loss and improved metabolic health. The keto diet may have risks and downsides, though, just like any other diet. In this post, we discuss the possible disadvantages of…
Spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder characterized by the loss of lower motor neurons (anterior horn cells) in the spinal cord and brainstem nuclei, resulting in progressive muscle weakening and atrophy. The severity and age at onset differ considerably. SMA was initially documented in the…
Sputum gram stain
Gram staining of expectorated sputum is a simplistic, easy-to-perform, commonly available, and low-cost diagnostic for pneumonia patients. Sputum Gram stain may detect many infections at the same time, and the test has a quick turnaround time. With adequate specimens, the sputum Gram stain can aid in establishing the right bacterial…
Blood test of lactic acidosis
Lactic acidosis is caused by high levels of lactic acid (lactate) and protons in the bodily secretions and is usually associated with poor clinical outcomes. The intensity and clinical setting of lactic acidosis influence its impact. Lactic acid, a carbohydrate metabolism intermediate, is mostly produced by white skeletal muscle, the…
alpha-Thalassemia
Thalassemia is a spectrum of genetic conditions in which one or more globin genes are defective, resulting in reduced or deficient synthesis of the related globin chains. Patients with minor genetic abnormalities are usually asymptomatic. Patients with more severe abnormalities have symptoms caused by one or more of the following:…
