PIK3CA-related overgrowth spectrum (PROS) comprises a group of rare disorders characterized by somatic mutations in the PIK3CA gene, leading to abnormal tissue growth in multiple organ systems. These disorders exhibit a wide phenotypic spectrum, primarily due to mosaic postzygotic mutations, which result in localized, asymmetric overgrowth affecting various body parts. Understanding the Genetic Basis of
Philadelphia chromosome-positive chronic myelocytic leukemia (Ph+ CML) is a hematopoietic stem cell disorder characterized by unregulated myeloid cell proliferation, resulting from the formation of the BCR-ABL1 fusion gene. This molecular abnormality is the hallmark of CML and plays a central role in its pathogenesis, diagnosis, and treatment. Pathogenesis of Ph+ CML: The Role of BCR-ABL1
Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) represents a high-risk subtype of ALL, characterized by the presence of the BCR-ABL1 fusion gene resulting from a translocation between chromosomes 9 and 22. This genetic anomaly drives aggressive leukemic proliferation and has historically been associated with poor prognosis. However, with the advent of tyrosine kinase inhibitors (TKIs)
Pheochromocytoma Adjunct Therapy: Pheochromocytoma is a catecholamine-secreting tumor that primarily arises from the adrenal medulla. While surgical resection remains the cornerstone of treatment, adjunct therapies are crucial for managing inoperable, metastatic, or recurrent tumors. These complementary treatments aim to control hormone production, inhibit tumor growth, reduce recurrence, and improve overall survival. Understanding the Role of
Pheochromocytoma is a rare catecholamine-producing tumor that arises from the chromaffin cells of the adrenal medulla. It is characterized by excessive secretion of epinephrine, norepinephrine, and, less commonly, dopamine, leading to potentially life-threatening hypertension and multisystemic complications. Early recognition, accurate diagnosis, and prompt intervention are critical for favorable outcomes. Origin and Pathophysiology of Pheochromocytoma Pheochromocytomas
Phenylketonuria (PKU) is a rare but serious autosomal recessive metabolic disorder that affects the body’s ability to metabolize the amino acid phenylalanine. Without prompt diagnosis and dietary intervention, PKU can result in irreversible intellectual disability and neurological impairment. This article presents a detailed, evidence-based overview of PKU, its pathophysiology, clinical features, diagnosis, management, and preventive
Pharyngitis Due to Streptococcus pyogenes: Pharyngitis caused by Streptococcus pyogenes, also known as Group A Streptococcus (GAS), represents one of the most common and clinically significant bacterial throat infections. Prompt diagnosis and treatment are essential to reduce symptoms, prevent complications, and limit transmission. Understanding Streptococcus pyogenes and Its Pathogenic Role Streptococcus pyogenes is a gram-positive,
Pharyngitis Due to Haemophilus parainfluenzae: Haemophilus parainfluenzae is an opportunistic, gram-negative bacterium commonly found in the upper respiratory tract. Though often part of the normal oropharyngeal flora, it has emerged as a significant pathogen implicated in pharyngeal infections. This form of pharyngitis can be clinically indistinguishable from viral or streptococcal pharyngitis, yet requires targeted antimicrobial
it is commonly referred to as a sore throat, is the inflammation of the pharynx — the anatomical region situated at the back of the throat. This condition, often triggered by viral or bacterial infections, affects individuals across all age groups. Pharyngitis may be acute or chronic, and understanding its underlying cause is vital for
Peyronie’s disease is a noncancerous condition characterized by the development of fibrous scar tissue, or plaque, within the penis. This leads to abnormal curvature during erections, which may result in pain, erectile dysfunction, and significant psychological distress. While the exact prevalence is unclear due to underreporting, studies estimate that Peyronie’s disease affects approximately 1 in