Alex Bamford, John Calabrese (Leader), Jordan Ervin, Manan Jain, Niral Shah, Stefan Nakollari Biology 288-

Introductory Physiology Ms. Judith Goodenough February 14, 2013 Case Study 1- Josie Part I- The Apartment Q1. What is wrong with Josie? Why do you think so? Josie is a 21 year old white female working as a prostitute. All we know about her family is that she has a brother named Patrick. Upon arriving back at her apartment, Josie suffers from several symptoms, some of which presumably, have occurred before. When Josie tried to open her apartment door, she felt tingling in her fingers, pins and needles, and she switched the key to her other hand. Josie leaned against the door as nausea washed across her body, pounding and retreating like waves on the Sunderland beach of her childhood. She was getting irritated. She was sweating and shivering. She seems to be obsessive about keeping her things in order. She prefers living in darkness. She also fears dying. Her heart started to race and pound against her breastbone. It was hard for her to breathe. Josie started to feel a sharp pain in her lower abdomen and she was bleeding. She vomited violently and felt weak. Josie suffers from a wide array of symptoms including, tingling in fingers (can be indicative of muscle fatigue/weakness), nausea, shivering (can be due to a fever), sharp abdominal pain, obsessive behavior, irritability (mood swings or depression can be a cause), rapid heartbeat, and shortness of breath. After having created a list of Josies symptoms, we used the WebMD symptom checker (http://symptoms.webmd.com/#./introView) to help us with our diagnostic differential and make a list of diseases/complications that could explain her symptoms. We concluded that Josie might be suffering from several diseases including food poisoning, pregnancy, panic attack, and vitamin B12 deficiency. Pregnancy According to our diagnosis, there is a strong probability that Josie is pregnant. She is an escort and engages in casual sex and that puts her at an increased risk of becoming pregnant. Pregnancy can cause most of Josies symptoms including nausea, vomiting, irritability (mood swings), and shortness of breath. We can confirm whether Josie is pregnant by conducting a simple pregnancy test/exam. Also, looking at the severe abdominal pain and fast heart rate, if Josie is found to be pregnant then she should go to the hospital and not take the symptoms lightly considering that they are due to her pregnancy. She might be having complications with the pregnancy. (Referenceshttp://www.mayoclinic.com/health/symptoms-of-pregnancy/PR00102, http://www.whattoexpect.com/pregnancy/symptoms-and-solutions/short-breath.aspx, http://www.whattoexpect.com/pregnancy/pregnancy-health/complications/abdominalpain.aspx, http://www.webmd.com/baby/features/8-early-signs-of-pregnancy). Food poisoning Another possible diagnosis is food poisoning. Symptoms of food poisoning includenausea, vomiting, fever, severe abdominal pain/cramps, and muscle weakness. While it is

possible that Josie might have food poisoning, it does not explain the nausea that Josie has been suffering from (presumably) a long time. But regardless, there is a possibility of food poisoning being the cause for Josies symptoms. Considering Josies condition, a blood test as well as a physical exam must be conducted to confirm food poisoning. Food poisoning is usually a result of eating food contaminated by a infectious organism and a stool culture can help identify which organism caused the food poisoning while at times the cause cannot be determined (http://www.webmd.com/food-recipes/food-poisoning/understanding-foodpoisoning-treatment, http://www.mayoclinic.com/health/foodpoisoning/DS00981/DSECTION=tests-and-diagnosis, http://www.webmd.com/foodrecipes/food-poisoning/food-poisoning-and-safe-food-handling-symptoms, http://www.mayoclinic.com/health/food-poisoning/DS00981/DSECTION=symptoms, http://www.webmd.com/food-recipes/food-poisoning/understanding-food-poisoningsymptoms, http://www.webmd.com/food-recipes/food-poisoning/food-poisoning?page=2, http://www.umm.edu/altmed/articles/food-poisoning-000064.htm). Panic attack Josie can also be suffering from a panic attack. A panic attack is not general fear or anxiety. A panic attack is a sudden feeling of terror that strikes a person without any warning. A person having a panic attack may believe that they are having a heart attack. The attack generally last for 10 minutes and can develop into panic disorder. The symptoms of panic attack are racing and pounding heart, feeling weak or dizzy, tingling in hands and fingers, sense of death, sweating and shivering, hyperventilating, chills, and nausea. It is highly likely that Josie was having a panic attack. Considering that Josie is a prostitute and might be using drugs, she is at a risk for developing panic disorder/attack. There are no specific tests than can confirm panic attacks, however, a doctor or a psychiatrist can perform physical exams and conduct an assessment through a questionnaire. (Referenceshttp://www.webmd.com/anxiety-panic/guide/panic-attack-symptoms, http://www.webmd.com/anxiety-panic/guide/mental-health-panic-disorder, http://www.mayoclinic.com/health/panic-attacks/DS00338/DSECTION=tests-and-diagnosis, http://www.medicinenet.com/script/main/art.asp?articlekey=55002, http://www.helpguide.org/mental/panic_disorder_anxiety_attack_symptom_treatment.htm). General anxiety disorder (GAD) Generalized anxiety disorder (GAD) is very similar to panic disorder and other anxiety disorders, however they are different. GAD is characterized by excessive, exaggerated anxiety and worry about everyday life events with no obvious reasons for worry. People with GAD worry unrealistically and out of proportion for the situa tion. The symptoms of GAD are irritability, obsession about small concerns, sweating and nausea, shortness of breath and rapid heartbeat, feeling twitchy, and fatigue. Stressful environment can lead to GAD and considering Josies living conditions and situation, it is likely that Josie has GAD. GAD can be diagnosed if a person meets all the criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM). A diagnosis of GAD required at least the following criteria: symptoms must persist for at least six months, difficulty controlling emotions, and anxiety is not related to any other disorder. Josie can be diagnosed with GAD and can be treated through psychotherapy and medication. (Referenceshttp://www.mayoclinic.com/health/generalized-anxiety-disorder/DS00502/DSECTION=testsand-diagnosis, http://www.nimh.nih.gov/health/publications/generalized-anxiety-disordergad/how-is-gad-treated.shtml, http://www.webmd.com/anxiety-panic/guide/generalizedanxiety-disorder).

Vitamin B12 Deficiency Based on Josies symptoms we concluded that another disease/affliction that she might be suffering from could be Vitamin B12 Deficiency. Vitamin B12 is required by the body for the production of red blood cells (RBCs). If a person suffers from Vitamin B12 deficiency then the person lacks enough vitamins to produce the required amount of RBCs. Vitamin B12 deficiency can thus lead to anemia. Some of the symptoms of the disease include weakness, diarrhea and constipation, tingling in fingers and toes, paranoia, and balance problems. A blood test can confirm whether Josie has Vitamin B12 deficiency or not. (References- http://www.webmd.com/a-to-z-guides/vitamin-b12-deficiency-anemiatopic-overview, http://www.health.harvard.edu/blog/vitamin-b12-deficiency-can-be-sneakyharmful-201301105780, http://www.health.harvard.edu/blog/vitamin-b12-deficiency-can-besneaky-harmful-201301105780). The diseases and disorders listed above are the most likely to be responsible for Josies symptoms. The recommended tests can confirm what the exact cause for Josies affliction is. There is a possibility that Josie might be suffering from something not on the list however. Considering the severity of the symptoms, Josie should be taken to doctor for a complete physical exam as well as a psychiatric exam. Part II- The Hospital Q1. What do you now think is wrong with Josie? Why do you think this? It was concluded that Anemia, Generalized Anxiety Disorder, Multiple Sclerosis and panic attacks are the major causes/diseases leading to her symptoms. Anemia is a condition that comes about when your body is lacking healthy red blood cells or hemoglobin or even both. Hemoglobin is responsible for carrying oxygen from the lungs to the rest of the body. This disease can be temporary or long term and can also range from being mild to severe (Mayoclinic). Lacking oxygen from having too few RBCs can cause fatigue because your organs will not receive the oxygen needed to function normally. Anemia can be hereditary (depending on the type of anemia) and from birth, some infants may be affected by it. It is also quite prevalent in women during childbearing years. During this time, they become iron deficient due to the blood loss from menstruation. The most common anemia is iron deficiency, this is easily treatable using iron supplements and specific diet alterations. Although the doctor claimed Josie is only a touch anemic, it explains her fatigue, rapid heartbeat/shortness of breath and her difficulty concentrating as her eyes darted around aimlessly when she was in her apartment earlier. Moreover, miscarriages usually come with a vast loss of blood, this can also lead to lower levels of RBCs resulting in anemia. Symptoms of Anemia include: Easy fatigue and loss of energy Unusually rapid heartbeat, particularly with exercise Shortness of breath and headache, particularly with exercise Difficulty concentrating Iron deficiency Significant loss of blood during pregnancy (in Josies case, miscarriage) Dizziness Pale skin

Leg cramps Insomnia

It was assumed that her symptoms from the previous part persisted while she was in the hospital. According to her current condition, multiple sclerosis could be a possible cause of Josies symptoms. MS is an autoimmune disease; the immune system attacks the myelin sheath which encases the nerves in the central nervous system. Myelin aids in speeding up the process of efficiently transmitting information from the brain and/or spinal cord to other nerves in other parts of the body. MS is also two to three times as common in females as in males (WebMd). The disease can result in inflammation of the myelin sheath causing delayed or even blocking of nerve signals. This usually leads to the loss of muscle control, vision, balance and sensation. Currently, there is no test that directly diagnoses MS. However, basing the diagnosis off of medical history and a neurological exam is quite an accurate yet imperfect method. Other specialized procedures that can help diagnosing the disease include MRI (checking for inflammation in the brain), spinal taps or lumbar punctures (examination of the cerebrospinal fluid running through the spinal column), evoked potentials (electrical tests to aid in determining if the disease affected the nerve pathways) and lab analysis of blood samples (WebMd). The tingling/numbness in Josies fingers and toes would explain why MS could be a possible cause/disease. Symptoms of Multiple Sclerosis include: Numbness or weakness in one or more limbs Partial or complete loss of central vision, usually in one eye Double vision or blurring of vision Tingling or pain in parts of your body Electric-shock sensations that occur with certain head movements Tremor, lack of coordination or unsteady gait Slurred speech Fatigue Dizziness Drug Induced symptoms Josie admitted to the doctor that she has been taking Klonopin and Tofranil, which as a result, came up on her blood test. Klonopin (Clonazepam) is prescribed to people that need to prevent and control seizures and does so by enhancing effects of GABA (gammaaminobutyric acid) in the brain. It may also be used to aid in treating manic bipolar disorder adjunct treatment, essential tremor, and feeling of restlessness with inability to sit still (WebMd). Therefore, is an anticonvulsant or antiepileptic drug and is also utilized to treat panic attacks. It is a benzodiazepine that helps relax the brain and nerves (providing shortterm relief of and controlling anxiety attacks). Because Josie was admitted to the hospital, she was no longer taking the drug during her visit, that sometimes worsens the condition of the patient. This drug is supposed to be taken regularly for it to be most effective, sudden discontinuation may lead to adverse effects and withdrawal reactions. Physical dependence is a major issue correlated with benzodiazepines like Klonopin. Withdrawal symptoms include: seizures, mental/mood changes, sweating, shaking, tremors, vomiting and stomach/muscle cramps. This drug could have potentially caused Josies abdominal pain and mental mood changes, for example saying Just let me die, while at the hospital. Side

effects of Klonopin include sedation, which is reported in approximately half of patients, dizziness which is reported in one-third of patients, weakness, and unsteadiness. Other side-effects include a feeling of depression, loss of orientation, suicidal thoughts/attempts headache, and sleep disturbance (medicinenet.com). http://www.webmd.com/drugs/mono-6006-CLONAZEPAM++ORAL.aspx?drugid=920&drugname=Klonopin+Oral&source=3&pagenumber=4 http://www.medicinenet.com/clonazepam/article.htm Tofranil (Imipramine) is an antidepressant medication used to treat depression and various other mood/mental disorders. It is a tricyclic antidepressant and balances out neurotransmitters such as, norepinephrine and other natural substance. Tofranil can also be used to control bed-wetting by blocking effects of acetylcholine on the bladder. Most likely for Josies case, this drug was probably used to treat anxiety, panic disorder or a form of recurring pain. Possible side effects of tofranil include: dry mouth, blurred vision, headache, drowsiness, dizziness, constipation, nausea, vomiting, loss of apetite, diarrhea, stomach cramps, weight gain/loss and increased sweating. Other uncommon but potentially fatal side effects include: mental/mood changes (e.g., confusion, depression, memory problems), enlarged/painful breasts, unusual breast milk production, irregular/painful menstrual periods, muscle stiffness, restlessness, ringing in the ears, sexual problems (e.g., decreased sexual ability, changes in desire), shakiness (tremors), numbness/tingling of the hands/feet, pain/redness/swelling of arms or legs, severe stomach/abdominal pain trouble urinating. Because this drug increases serotonin levels, it can cause serotonin syndrome/toxicity. This can lead to symptoms such as: fast heartbeat, hallucinations, loss of coordination, severe dizziness, severe nausea/vomiting/diarrhea, twitching muscles, and unusual agitation/restlessness (WebMd). Josie had several symptoms that were also listed above, some include, severe nausea, violent vomiting, sharp abdominal pain, numbness/tingling of hands and feet, rapid heartbeat, headache, and unusual agitation/restlessness. This proves that Tofranil could have potentially caused some of these symptoms or withdrawal from the drug could have also induced these side effects. http://www.webmd.com/drugs/drug-7047Tofranil+Oral.aspx?drugid=7047&drugname=Tofranil+Oral&source=2

Q2. If you changed your mind from what you thought after reading Part I, what factors made you change your mind? Based on the new information given, pregnancy was ruled out as one of the possible causes for her issues because the doctor had confirmed that Josie actually had a miscarriage. Even after her miscarriage, the symptoms seemed to persist. Although food poisoning would explain her vomiting, severe abdominal pain and muscle weakness, this was eliminated because it would not explain her other symptoms and this would have been detected from a blood test. Vitamin B12 deficiency was also ruled out because the doctor would have also been able to see this issue after performing a blood test. Panic attacks remains on the list because it was assumed that her, fatigue, numbness/tingling in fingers and toes, shortness of breath and rapid heartbeat, continue to prevail. Thus, Anemia, Generalized Anxiety Disorder, Multiple Sclerosis, drug induced symptoms and panic attacks were the corrected possible causes/diseases that Josie may be affected by.

http://www.webmd.com/a-to-z-guides/understanding-anemia-symptoms http://www.webmd.com/a-to-z-guides/understanding-anemia-basics http://www.mayoclinic.com/health/anemia/DS00321 http://www.mayoclinic.org/anemia/ http://www.mayoclinic.org/multiple-sclerosis/ http://www.webmd.com/multiple-sclerosis/guide/multiple-sclerosis-diagnosing http://www.webmd.com/multiple-sclerosis/default.htm

Part III- Blood Q1. What do you now think is wrong with Josie? Why do you think this? We now believe that Porphyria, Multiple Sclerosis, and Generalized Anxiety Disorder are all possible causes for her condition. The symptoms for porphyria include: Chest pain Abdominal pain, often severe Increased heart rate and blood pressure Limb and back pain Muscle weakness Tingling Loss of sensation Cramping Vomiting and constipation Personality changes or mental disorders Agitation, confusion, and seizures Q2. If you changed your mind from what you thought after reading Parts I and II, what factors made you change your mind? At this time we do not believe the cause for her symptoms could have been anemia or panic attacks. Anemia and panic attacks do not explain the hallucinations very well. These two are therefore removed from the list. After taking her new symptoms into consideration, we decided Generalized Anxiety Disorder and Multiple Sclerosis are still possibilities. Hallucinations and the mental problems she is having are slightly rare with these two disorders but there have been a few cases of people having reported seeing hallucinations with these two conditions. They are less likely to be the cause but we cannot rule them out completely until we have some better evidence against them. The severe symptoms in this part seem to be something more than a drug induced situation, so we can put drug induced symptoms to the side and look at other conditions. Porphyria does address all her symptoms including the mental disorders she is having therefore, at this time it is the most likely of the three choices we have made so far. We will have to run some tests to be certain. References http://www.mayoclinic.com/health/schizophrenia/DS00196/DSECTION=symptoms http://www.mayoclinic.com/health/porphyria/DS00955/DSECTION=symptoms http://www.mayoclinic.com/health/multiple-sclerosis/DS00188/DSECTION=symptoms

http://www.ehealthme.com/cs/generalized+anxiety+disorder/hallucination,+visual Part IV- Patrick Q1. Finally, whats wrong with Josie? Why do you think this? The final diagnosis for Josie is Porphyria. Porphyria is a genetically based disorder caused by a problem with the bodys production of heme. Heme is an oxygen carrying molecule found throughout the body, but especially in the blood and bone marrow. Porphyria affects the nervous system as well as the skin of a patient. Some of the most common symptoms of this disorder are: abdominal pain, numbness or tingling, sensitivity to light, mental disturbances, muscle weakness, and darkening (red/brown coloration) of urine. All of these symptoms are consistent with what is wrong with Josie. Not only does Josie possess all of these symptoms, but Porphyria encompasses all of her symptoms as well as explain her brothers condition. Porphyria is known to be genetically inherited by a single autosomal dominant mutation. There is a strong probability that both Josie and her brother Patrick suffered from Porphyria. Although we do not know much about Patricks condition, it is a very good assumption to make. Q2. What clues from the story led you to this thinking? While looking back, you can see that all of Josies symptoms are consistent with those of Porphyria. For example, in the first part she experienced abdominal pain and muscle fatigue. In the second part she began to have numbness and tingling in her extremities, another symptom of Porphyria. In the third part, her symptoms became more specific. She showed mental disturbances, sensitivity to light, and dark urine. All of these are symptoms that Josie experienced and are symptoms of Porphyria. Q3. What outside information did you gather in supporting your hypothesis? In supporting our hypothesis, we gathered information from websites such as WebMD. We used these websites to research Josies symptoms, possible diagnoses, and the effects of her medication. We also consulted a professional in Emergency Medical Services. We provided him with information about Josies symptoms and medications and asked for his professional input. Q4. What information would you like that you do not presently have? We would have liked to have information concerning Josies family history, including her brothers illness. The most common tests for active Porphyrias are blood tests. These tests check for the unusual and extremely high accumulation levels of porphyrin precursors and porphyrins. Also, we would have liked to see Josies medical history and more specific results from her tests. Also, we would like to know more about Patricks condition. We would like to look at his old medical records and we would have liked to conduct an autopsy when Patrick died. Finally, we would have liked to see Josies sample history- her breathing rate, pupil dilation, breath odor, and lung sounds. It would also be very helpful if we could have run the tests ourselves and been able to verify the results. By running blood and urine tests, we could not only rule out the majority of the conditions, but also confirm porphyria as the cause of her symptoms with certainty. We could also run a urine test more specific to porphyrins after confirmation of porphyria to find the specific type of porphyria she has.

Part I- The Apartment Josie is a 21 year old female. She works as a prostitute. She has a brother named Patrick. Symptoms/Comments Possible Causes/Diseases Pregnancy Food Poisoning Generalized Anxiety disorder (GAD) Vitamin B12 Deficiency Panic Attacks

Tingling in fingers Nausea Shivering Is a prostitute Light sensitivity Sharp abdominal pain Vomited violently Pool of blood Irritability Constant worrying or obsession about small or large concerns Rapid heartbeat/shortness of breath

Part II- The Hospital Doctor said it was miscarriage. Symptoms Possible Causes/Diseases Panic attacks Multiple Sclerosis GAD Anemia

Miscarriage Abdominal pain history Touch anemic Terrible headaches Tingling in fingers and toes Toxicology: Klonopin (panic attacks/schizophrenia)

Tofranil (anti-depression/panic attacks)

Elevated blood pressure Unconsciousness Fear of dying Part III- Blood Infection after miscarriage Possible Causes/Diseases GAD Porphyria Multiple sclerosis

Symptoms Infection Taking antibiotics Fast pulse Wanted to die/isolation Crying, confusion, memory loss Wants blood, thinks shes a vampire Loss sensation in arm Mental deterioration Toxicology: Klonopin- panic attacks/schizophrenia Tofranil- anti-depression/panic attacks Tegretol- nausea, vomiting, dizziness Clonidine- High BP, withdrawal syndrome, intractable pain Hydralazine- High BP, Pre-eclampsia Depressed Panic attacks B.P.- 120/70, Temp= 99.3 Clean CT scan, no UTI Reddish-purple urine

Light sensitivity Smells rotting flesh Vomit Twitching Hallucinations Arm and leg spasms Part IV- Patrick Brother died 10 months ago Had genetic disorder that made him soft in the head Symptoms Hallucinations Euthymic mood Possible Causes/Diseases Porphyria