Scenario 1: Polycystic Ovarian Syndrome (PCOS)
A 29-year-old female presents to the clinic with a complaint of hirsutism and irregular menses. She describes irregular and infrequent menses (five or six per year) since menarche at 11 years of age. She began to develop dark, coarse facial hair when she was 13 years of age, but her parents did not seek treatment or medical opinion at that time. The symptoms worsened after she gained weight in college. She got married 3 years ago and has been trying to get pregnant for the last 2 years without success. Height 66 inches and weight 198. BMI 32 kg.m2. Moderate hirsutism without virilization noted. Laboratory data reveal CMP within normal limits (WNL), CBC with manual differential (WNL), TSH 0.9 IU/L SI units (normal 0.4-4.0 IU/L SI units), a total testosterone of 65 ng/dl (normal 2.4-47 ng/dl), and glycated hemoglobin level of 6.1% (normal value ≤5.6%). Based on this information, the APRN diagnoses the patient with polycystic ovarian syndrome (PCOS) and refers her to the Women’s Health APRN for further workup and management.
Question
1. What is the pathogenesis of PCOS?
Ovulation irregularity, elevated testosterone levels, and polycystic ovaries are all symptoms of Request Unlock Polycystic Ovary Syndrome (PCOS), which has a genetic basis. Alterations in luteinizing hormone (LH) activity, insulin resistance, and a probable propensity for hyperandrogenism have all been implicated in the pathophysiology of polycystic ovary syndrome. Hyperandrogenism may be exacerbated by insulin resistance, according to one idea. According to this theory, insulin resistance increases androgen production in the adrenal glands and ovaries, increasing sex hormone-binding globulin synthesis. As a result, hyperandrogenism manifests itself physically, and menstrual irregularity becomes a common symptom. The hyperandrogenic condition is characteristic of PCOS; however, glucose intolerance or insulin resistance and hyperinsulinemia often accompany and considerably amplify the hyperandrogenic state.
Scenario 1: Polycystic Ovarian Syndrome (PCOS)
A 29-year-old female presents to the clinic with a complaint of hirsutism and irregular menses. She describes irregular and infrequent menses (five or six per year) since menarche at 11 years of age. She began to develop dark, coarse facial hair when she was 13 years of age, but her parents did not seek treatment or medical opinion at that time. The symptoms worsened after she gained weight in college. She got married 3 years ago and has been trying to get pregnant for the last 2 years without success. Height 66 inches and weight 198. BMI 32 kg.m2. Moderate hirsutism without virilization noted. Laboratory data reveal CMP within normal limits (WNL), CBC with manual differential (WNL), TSH 0.9 IU/L SI units (normal 0.4-4.0 IU/L SI units), a total testosterone of 65 ng/dl (normal 2.4-47 ng/dl), and glycated hemoglobin level of 6.1% (normal value ≤5.6%). Based on this information, the APRN diagnoses the patient with polycystic ovarian syndrome (PCOS) and refers her to the Women’s Health APRN for further workup and management.
Question
How does PCOS affect a woman’s fertility or infertility?
PCOS is the most common reason for female infertility. Infertility leads to a lack of ovulation, abnormal follicle development, and Request Unlock decreased androgen production. Follicles on the ovaries may not develop, preventing ovulation even if testosterone levels are normal. Infrequent ovulation and menstruation may result from hormonal imbalance. Essential to the development of PCOS is a hyperandrogenic condition. Follicle growth is affected by elevated androgen levels, whereas follicle loss is prevented by insulin’s ability to inhibit apoptosis. Ovarian follicle development is not functioning correctly. Anovulation is a self-perpetuating condition that starts with inappropriate gonadotropin production.
Scenario 2: Pelvic Inflammatory Disease (PID)
A 30-year-old female comes to the clinic with a complaint of abdominal pain, foul smelling vaginal discharge, and fever and chills for the past 5 days. She denies nausea, vomiting, or difficulties with bowels. Last bowel movement this morning and was normal for her. Nothing has helped with the pain despite taking ibuprofen 200 mg orally several times a day. She describes the pain as sharp and localizes the pain to her lower abdomen. Past medical history noncontributory. GYN/Social history + for having had unprotected sex while at a fraternity party. Physical exam: thin, Ill appearing anxious looking white female who is moving around on the exam table and unable to find a comfortable position. Temperature 101.6F orally, pulse 120, respirations 22 and regular. Review of systems negative except for chief complaint. Focused assessment of abdomen demonstrated moderate pain to palpation left and right lower quadrants. Upper quadrants soft and non-tender. Bowel sounds diminished in bilateral lower quadrants. Pelvic exam demonstrated + adnexal tenderness, + cervical motion tenderness and copious amounts of greenish thick secretions. The APRN diagnoses the patient as having pelvic inflammatory disease (PID).
Question:
1. What is the pathophysiology of PID?
Inflammation of the peritoneal cavity, uterus, fallopian tubes, ovaries, and other reproductive organs is the Request Unlock hallmark of severe pelvic inflammatory disease (PID). For PID to develop, an infection must first establish itself, and then the normal vaginal microbiota must fail. Other bacteria may cause PID if the vaginal pH changes and the cervix’s mucus loses its integrity, although gonorrhea and chlamydia are the most prevalent causes. When the cervix is damaged, the inflammatory process that leads to edema, blockage, or necrosis in the uterus and fallopian tubes might begin. Both chlamydia and gonorrhea germs may move to the abdominal cavity, where they can multiply by rupturing cell membranes and causing inflammation and damage.
Scenario 3: Syphilis
A 37-year-old male comes to the clinic with a complaint of a “sore on my penis” that has been there for 5 days. He says it burns and leaked a little fluid. He denies any other symptoms. Past medical history noncontributory.
SH: Bartender and he states he often “hooks up” with some of the patrons, both male and female after work. He does not always use condoms.
PE: WNL except for a lesion on the lateral side of the penis adjacent to the glans. The area is indurated with a small round raised lesion. The APRN orders laboratory tests, but feels the patient has syphilis.
Question:
1. What are the 4 stages of syphilis
The clinical signs of syphilis may be broken down into four distinct phases. In the first, or primary, phase, bacteria replicate in the Request Unlock epithelium, leading to the development of chancre and ultimately draining into lymph nodes, where they elicit an adaptive immune response. In the second phase, the immune system fights against the infection and eliminates the chancres once pathogens have invaded the body systemically. After the secondary stage is the latent phase; during this time, the infected person will show no outward signs of the disease but will still be contagious to others if they engage in sexual activity. The tertiary phase is characterized by severe systemic signs of the illness resulting in death. Destructive skin, bone, and soft tissue lesions, as well as cardiovascular problems such as aneurysms, heart valve dysfunction, and heart failure, are among these signs. Damage to the nervous system is also a possibility.
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems.
PMH: Negative. Easily reached developmental milestones.
PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.
LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.
DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.
CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question
1. Explain what ALL is?
Acute lymphoblastic leukemia (ALL) is the most frequent form of cancer in Request Unlock children and young adults. Lymphoblasts, which are precursors to adult white blood cells, are overproduced. While the precise origin of cancer remains a mystery, several factors—including one’s genetic makeup—have been linked to its development. When another genetic defect is present, such as Down syndrome, leukemia is more common. The progression of ALS varies considerably among regions. The incidence of ALL is more remarkable in developing nations with higher socioeconomic status. This has not been fully grasped yet. The most typical presentation of ALL in the clinic occurs rapidly, often within days to weeks. Depression in the bone marrow is linked to these symptoms. Anemia, thrombocytopenia, and infection-related fever are all potential causes of exhaustion. The mouth, the throat, the lungs, the lower intestines, the kidneys, and even the skin may all get infected. Gram-negative bacilli cause most infections. Another typical sign is bleeding.
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.
Maternal history negative for pre, intra, or post-partum problems.
PMH: Negative. Easily reached developmental milestones.
PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.
LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.
DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.
CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question
1. Why does ARF occur in some patients with ALL?
Prerenal acute kidney damage, acute tubular necrosis, renovascular disease, obstruction, glomerulonephritis, and Request Unlock parenchymal invasion of tumor cells are all factors that may lead to renal injury in ALL. Renal failure is a rare presenting symptom in ALL and is regarded to be a poor prognostic signal even though renal involvement is widespread in ALL. If leukemic infiltrates are bilateral and diffuse, mainly if they include the cortical area, it may significantly compromise renal function. Acute renal failure is a common complication of the chemotherapy regimen used to treat individuals with acute leukemia, which results in tumor lysis syndrome. Acute uric acid and calcium phosphate nephropathy are caused by tumor lysis syndrome. In volume depletion, prerenal AKI is leukemia’s most prevalent kind of kidney damage. The infiltration rate is proportional to the stage and grade of the illness; hence a kidney biopsy is often indicated when infiltration is suspected since it may provide predictive information about the malignancy.
Scenario 2: Sickle Cell Disease (SCD)
A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.
Question
1. Explain the pathophysiology of acute SCD crisis. Why is pain the predominate feature of acute crises?
One hundred thousand persons in the United States are affected with sickle cell disease (SCD), an autosomal-recessive hereditary condition. Mutations in the Request Unlock beta-globin chain of hemoglobin are responsible for sickle cell disease. The mutation has the unusual feature of polymerizing in the absence of oxygen, which causes the red blood cells to adopt a sickle form under specific circumstances. Sickling of red blood cells is exacerbated by low oxygen tension, which damages cell membranes and lessens the flexibility of the cell, all of which contribute to sickle cell disorders. Pain is frequent and may worsen by extreme heat or cold, intense activity, or a lack of oxygen. In this instance, the hypothetical patient had a ten-month sickle cell crisis with accompanying discomfort.
Scenario 2: Sickle Cell Disease (SCD)
A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.
Question
1. Discuss the genetic basis for SCD.
Due to a single base pair point mutation in the -globin gene, the amino acid valine is replaced by glutamic acid in the Request Unlock – globin chain in individuals with sickle cell disease (SCD), a clonal condition. A person with SCD has two copies of the gene responsible for producing hemoglobin (-globin). In humans, chromosome 11 is home to the -globin gene. Hemoglobin S is an aberrant form of the hemoglobin molecule resulting from beta-globin (HBB) gene mutations in sickle cell disease.
Scenario 3: Hemophilia
8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
FH: negative for any history of bleeding disorders or other major genetic diseases.
PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling.
DIAGNOSIS: hemophilia A.
Question
1. What is the pathophysiology of Hemophilia
Whether inherited or acquired via spontaneous mutation, a lack of functional plasma clotting factor Request Unlock VIII (FVIII) is the root cause of hemophilia A, an X-linked, recessive condition. For hereditary cases already challenging to treat, the appearance of inhibitory alloantibodies to FVIII is a significant additional obstacle. Hemophilia A is seldom developed when autoantibodies target factor VIII.