D236 Comprehensive Medical Conditions Outline

D236 Comprehensive Medical Conditions Outline

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Western Governors University

D236 Pathophysiology

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Rhabdomyolysis

Rhabdomyolysis refers to the destruction of skeletal muscle tissue, resulting in the release of intracellular components—particularly myoglobin—into the bloodstream. When excessive amounts of myoglobin circulate, the kidneys are tasked with filtering these large molecules through the nephrons. However, myoglobin is toxic to renal tubular cells, and in large quantities, it can cause acute tubular necrosis or acute kidney injury (AKI) (Huerta-Alardín et al., 2005).

Clinical Manifestations

Rhabdomyolysis often presents with a triad of myalgia, generalized muscle weakness, and myoglobinuria (commonly seen as tea-colored urine). Despite this classical triad, more than half of patients may not report muscle pain or weakness, and the earliest symptom may simply be dark urine (Torres et al., 2021).

Diagnosis and Laboratory Findings

The most sensitive diagnostic marker is an elevated serum creatine kinase (CK) level, which indicates muscle injury when not related to cardiac or brain tissue damage. A CK level five times greater than normal strongly suggests rhabdomyolysis (Melli et al., 2005).

Phagocytosis

What is Phagocytosis?

Phagocytosis is a cellular immune defense mechanism involving the engulfment and destruction of pathogens or foreign substances by phagocytes such as neutrophils and macrophages. The process consists of recognition, attachment, engulfment, and degradation.

During engulfment, cytoplasmic extensions called pseudopods surround the target particle, forming a phagosome. Lysosomes within the phagocyte then fuse with the phagosome, releasing enzymes and reactive oxygen species to degrade or kill the ingested material (Underhill & Goodridge, 2012).

Ovarian Cancer

Ovarian cancer often progresses silently, with few early symptoms, making biomarker testing essential for early detection. Two key markers used in diagnosis and monitoring are CA-125 and HE4 (Human Epididymis Protein 4).

• CA-125 is a glycoprotein elevated in many epithelial ovarian cancers but may also increase in benign conditions.

• HE4 is more specific and, when used with CA-125 in the Risk of Ovarian Malignancy Algorithm (ROMA), improves diagnostic accuracy (Moore et al., 2008).

Hypospadias

Hypospadias is a congenital malformation of the male urethra in which the urethral opening is located on the ventral (underside) surface of the penis rather than at the tip of the glans. The condition can vary in severity depending on the location of the meatus, ranging from subcoronal to perineal.

It is one of the most common congenital anomalies in male newborns and can lead to fertility issues due to difficulties with semen deposition. Surgical correction is the definitive treatment, typically performed in infancy to restore normal urinary and reproductive function (Carmichael et al., 2013).

Hypo- and Cryptorchidism

Definition and Types

• Hypogonadism (Hypo): A condition in which the testes fail to produce sufficient testosterone or sperm.

• Cryptorchidism: Also known as undescended testes, this occurs when one or both testes fail to descend into the scrotal sac before birth.

These are the two most common congenital abnormalities affecting newborn males. Cryptorchidism increases the risk of infertility and testicular cancer later in life (Kolon et al., 2014). Surgical intervention, typically orchiopexy, is recommended before two years of age.

Appendicitis

Overview

Appendicitis is an acute inflammation of the vermiform appendix, commonly resulting from obstruction by fecalith, lymphoid hyperplasia, or foreign material. It presents as a surgical emergency requiring prompt diagnosis to prevent perforation or peritonitis.

Clinical Presentation

Pain typically begins around the umbilicus and gradually localizes to the right lower quadrant (RLQ), specifically at McBurney’s point. This pain increases with movement, coughing, or deep inspiration. Patients may exhibit nausea, vomiting, anorexia, fever, and chills (Addiss et al., 1990).

Physical Examination Signs

If untreated, bowel perforation and peritonitis may occur, posing life-threatening risks. The preferred management is surgical appendectomy, often preceded by antibiotic therapy.

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Part 1: Gastrointestinal and Respiratory Disorders

Peptic Ulcer Disease (PUD)

Peptic ulcer disease occurs due to an imbalance between gastric acid secretion and the mucosal protective mechanisms of the gastrointestinal (GI) tract. Approximately 43% to 87% of individuals with bleeding peptic ulcers experience no prior warning symptoms (Huether & McCance, 2023). When ulceration leads to perforation of the stomach or intestinal wall, the patient often experiences sudden, severe abdominal pain radiating to the back, abdominal rigidity, hematemesis, pallor, and cold sweats. These symptoms indicate a medical emergency.

Complications

Major complications of peptic ulcer disease include:

• Bleeding: May result in anemia or shock.

• Perforation: Full-thickness erosion into the gastric or intestinal wall.

• Penetration: Ulcer extends into adjacent organs.

• Gastric outlet obstruction: Due to edema or scarring.

Treatment

High-dose intravenous proton pump inhibitor (PPI) therapy is the first-line treatment for bleeding ulcers to suppress acid secretion and promote healing.

Ulcerative Colitis (UC)

Ulcerative colitis (UC) is a chronic inflammatory bowel disease (IBD) affecting only the mucosal layer of the colon and rectum. In contrast, Crohn’s disease involves transmural inflammation that can affect any portion of the GI tract (Ignatavicius et al., 2022). UC increases the long-term risk of colorectal carcinoma due to chronic inflammation and cellular dysplasia.

Clinical Manifestations

Patients commonly present with:

• Severe abdominal pain and tenderness

• Fever, leukocytosis, and abdominal distention

• Diarrhea, often with blood and mucus

• Extraintestinal manifestations such as arthritis, pleuritis, and hepatobiliary inflammation

Complications

Long-standing UC can result in toxic megacolon, colon cancer, and systemic inflammation affecting the skin, joints, and eyes.

Hernia

A hernia is defined as the protrusion of an organ or tissue through a weakness or defect in the surrounding muscle or connective tissue. One common type, the hiatal hernia, occurs when part of the stomach moves upward through the diaphragm into the thoracic cavity (Smeltzer et al., 2021).

Risk Factors

Symptoms

• Heartburn and reflux

• Epigastric pain

• Difficulty swallowing

• Chest discomfort after meals

Lifestyle modifications and surgical repair (herniorrhaphy) may be indicated for symptomatic cases.

Asthma

Asthma, also called hyperreactive airway disease, is a chronic inflammatory disorder of the airways characterized by reversible bronchoconstriction (Global Initiative for Asthma [GINA], 2024). Each acute attack contributes to airway remodeling, emphasizing the need for prevention and control.

Clinical Features

Management

• Short-acting β2 agonists (SABA) for acute relief

• Inhaled corticosteroids for maintenance therapy

• Avoidance of triggers (e.g., allergens, infections, smoke exposure)

Asthma severity depends on the degree of bronchial hyperresponsiveness and reversibility of obstruction.

Lymphomas

Lymphomas are malignancies of the lymphatic system classified into Hodgkin’s lymphoma (HL) and non-Hodgkin’s lymphoma (NHL) (American Cancer Society, 2024).

Hodgkin’s Lymphoma (HL)

Develops from an abnormal B lymphocyte line. Common presentation includes a painless, enlarged lymph node, fever, fatigue, night sweats, and weight loss. The Reed–Sternberg cell is the hallmark histologic finding.

Non-Hodgkin’s Lymphoma (NHL)

A heterogeneous group of cancers derived from T cells, B cells, or NK cells. NHL typically occurs in middle-aged to older adults and is more frequent in males. Clinical manifestations depend on the site of lymphoid involvement (e.g., spleen, liver, or bone marrow).

Hypertension (HTN)

Hypertension is diagnosed when two or more elevated blood pressure readings are recorded on separate visits, with systolic ≥130 mmHg or diastolic ≥80 mmHg (American Heart Association [AHA], 2023). Uncontrolled hypertension is a leading cause of cardiovascular morbidity and mortality.

Complications

Management

Lifestyle interventions include weight reduction, salt restriction, exercise, and smoking cessation. Pharmacologic management involves ACE inhibitors, ARBs, diuretics, or calcium channel blockers.

Part 2: Hematologic and Neurologic Disorders

Aplastic Anemia

Aplastic anemia is a serious hematologic disorder in which the bone marrow fails to produce adequate blood cells, leading to pancytopenia—a reduction in red blood cells (RBCs), white blood cells (WBCs), and platelets. The marrow becomes hypocellular, and fat cells replace the normal hematopoietic tissue (Huether & McCance, 2023).

Etiology

Causes include:

• Viral infections (Hepatitis, Epstein–Barr virus, HIV)

• Radiation or chemical exposure (e.g., benzene)

• Certain drugs (chloramphenicol, anticonvulsants)

• Autoimmune disorders where T lymphocytes attack marrow stem cells

Clinical Manifestations

Treatment includes bone marrow transplantation, immunosuppressive therapy, and avoidance of the causative agent.

Hemolytic Anemia

Hemolytic anemia occurs when red blood cell destruction exceeds bone marrow production. This may result from autoimmune reactions, hereditary defects, or mechanical damage to RBCs (Ignatavicius et al., 2022).

Causes

• Autoimmune hemolytic anemia

• Transfusion reactions

• Mechanical destruction (prosthetic valves)

• Systemic lupus erythematosus (SLE) or vasculitis

Clinical Features

Patients exhibit:

• Fatigue, pallor, and shortness of breath

• Jaundice from elevated bilirubin

• Dark urine (due to increased urobilinogen)

• Splenomegaly caused by RBC sequestration

Sickle Cell Anemia

Sickle cell anemia (SCA) is a hereditary hemolytic anemia caused by a point mutation in the β-globin gene, resulting in abnormal hemoglobin (HbS). Under hypoxic conditions, RBCs assume a rigid, sickle shape that impedes circulation and leads to vaso-occlusive crises (National Heart, Lung, and Blood Institute [NHLBI], 2024).

Key Manifestations

• Fatigue and exercise intolerance

• Jaundice and gallstone formation

• Pain crises triggered by infection, dehydration, or cold exposure

• Fever, tachycardia, and anxiety

Complications

Repeated crises can cause chronic organ damage. Management focuses on hydration, pain control, hydroxyurea therapy, and infection prevention.

Thalassemia

Thalassemia is a group of inherited hemoglobin synthesis disorders where one or more globin chains are deficient, leading to decreased RBC production and microcytic anemia (Huether & McCance, 2023).

Symptoms

• Fatigue, weakness, and pallor

• Exercise intolerance

• Splenomegaly and bone deformities (in severe forms)

Treatment

• Blood transfusions

• Chelation therapy for iron overload

• Bone marrow transplantation (in severe β-thalassemia)

Hyperlipidemia

Hyperlipidemia involves elevated levels of cholesterol and triglycerides in the bloodstream and is a major contributor to atherosclerosis and cardiovascular disease (AHA, 2023).

Risk Factors

Management

Treatment includes dietary modification, physical activity, and statin therapy to lower LDL levels and prevent plaque formation.

Lymphoblastic Leukemia (Lymphoblast Cancer)

Lymphoblastic leukemia is a malignancy of lymphoid precursor cells characterized by the overproduction of immature lymphoblasts in the bone marrow. This impairs normal hematopoiesis and increases infection risk (American Cancer Society, 2024).

Clinical Presentation

• Recurrent infections (e.g., tonsillitis, pneumonia)

• Fever, fatigue, and bone pain

• Bleeding tendencies due to thrombocytopenia

• Hepatosplenomegaly and lymphadenopathy

Early treatment with chemotherapy and hematopoietic stem cell transplantation improves survival outcomes.

Parkinson’s Disease

Parkinson’s disease (PD) is a progressive neurodegenerative disorder resulting from the loss of dopamine-producing neurons in the substantia nigra of the midbrain. Dopamine deficiency disrupts the basal ganglia’s control of voluntary movement (National Institute of Neurological Disorders and Stroke [NINDS], 2024).

Clinical Manifestations

• Resting tremor (“pill-rolling”)

• Bradykinesia (slowness of movement)

• Muscular rigidity

• Postural and gait instability

Treatment focuses on dopaminergic agents (levodopa-carbidopa), deep brain stimulation, and physical therapy.

Amyotrophic Lateral Sclerosis (ALS)

ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative condition involving the loss of both upper and lower motor neurons, eventually leading to respiratory failure (NINDS, 2024).

Symptoms

• Painless muscle weakness

• Fasciculations and muscle atrophy

• Dysphagia and dysarthria

• Progressive paralysis

Although no cure exists, riluzole and edaravone can slow disease progression.

Multiple Sclerosis (MS)

MS is an autoimmune demyelinating disease of the central nervous system characterized by inflammation and destruction of myelin sheaths in the brain and spinal cord. The disease course involves exacerbations and remissions (National Multiple Sclerosis Society, 2024).

Clinical Manifestations

Disease-modifying therapies (e.g., interferon beta, glatiramer acetate) can reduce relapse frequency and slow disability progression.

Otitis Media (OM)

Otitis media, the most common pediatric middle ear disorder, is typically caused by bacterial infection following an upper respiratory illness (Centers for Disease Control and Prevention [CDC], 2024).

Causative Agents

Symptoms

• Ear pain and fever

• Hearing loss and irritability

• Otorrhea (ear drainage) in severe cases

Treatment includes antibiotics (amoxicillin) and tympanostomy for recurrent infections.

Musculoskeletal Trauma

Musculoskeletal trauma involves injury to bones, soft tissues, or neurovascular structures. Prompt assessment is essential to prevent permanent damage (Smeltzer et al., 2021).

Initial Management

The primary survey follows the ABCDE approach:

1. Airway with cervical spine protection

2. Breathing and ventilation

3. Circulation and hemorrhage control

4. Disability (neurologic assessment)

5. Exposure and environmental control

Signs and Assessment

Pain control, immobilization, and monitoring for compartment syndrome are critical components of management.

References 

Addiss, D. G., Shaffer, N., Fowler, B. S., & Tauxe, R. V. (1990). The epidemiology of appendicitis and appendectomy in the United States. American Journal of Epidemiology, 132(5), 910–925.

Carmichael, S. L., Shaw, G. M., Laurent, C., Croughan, M. S., & Olney, R. S. (2013). Maternal reproductive and demographic characteristics as risk factors for hypospadias. Paediatric and Perinatal Epidemiology, 27(4), 353–359.

Huerta-Alardín, A. L., Varon, J., & Marik, P. E. (2005). Bench-to-bedside review: Rhabdomyolysis — an overview for clinicians. Critical Care, 9(2), 158–169.

Kolon, T. F., Herndon, C. D., Baker, L. A., Baskin, L. S., Baxter, C. G., Cheng, E. Y., … & Barthold, J. S. (2014). Evaluation and treatment of cryptorchidism: AUA guideline. The Journal of Urology, 192(2), 337–345.

D236 Comprehensive Medical Conditions Outline

Melli, G., Chaudhry, V., & Cornblath, D. R. (2005). Rhabdomyolysis: An evaluation of 475 hospitalized patients. Medicine, 84(6), 377–385.

Moore, R. G., Brown, A. K., Miller, M. C., Skates, S., Allard, W. J., Verch, T., … & Bast, R. C. (2008). The use of multiple novel tumor biomarkers for the detection of ovarian carcinoma in patients with a pelvic mass. Gynecologic Oncology, 108(2), 402–408.

Torres, P. A., Helmstetter, J. A., Kaye, A. M., & Kaye, A. D. (2021). Rhabdomyolysis: Pathogenesis, diagnosis, and treatment. Ochsner Journal, 21(1), 58–69.

Underhill, D. M., & Goodridge, H. S. (2012). Information processing during phagocytosis. Nature Reviews Immunology, 12(7), 492–502.*