Barter Syndrome Research Paper

Exercise 1: Cell Transport Mechanisms and Permeability: Activity 5: Simulating Active Transport Lab Report Pre-lab Quiz Results You scored 100% by answering 4 out of 4 questions correctly. 1. The movement of sodium and potassium maintained by the Na+ -K+ pump You correctly answered: e. requires energy and is against a concentration gradient. 2. The sodium-potassium pump is classified as a(n) You correctly answered: a. antiporter. 3. The sodium-potassium pump moves _____ sodium ions and _____ potassium ions simultaneously. You correctly answered: b. 3, 2 4. Solutes that require active transport for movement might be too large to pass or might be You correctly answered: a. lipid insoluble.

It also includes hot flashes, chills, headache, photo/audio sensitivity, and diarrhea. Patients will frequently feel horrendously dehydrated and will drink large amounts of water; only to throw it back up soon after. Finally, some patients have reported being in a “conscious coma”, which includes lethargy, listlessness, withdrawal, and disorientation. This phase can last for several hours to several days and can have serious consequences such as electrolyte abnormalities, GI bleeding, and esophageal perforation.

As the deficiency continues to worsen, you may notice tingling, numbness, a change in personality, seizures, abnormal heart rhythms, coronary spasms, or increased fatigue.

Smith-Magenis Syndrome (SMS) is a chromosomal disorder due to the deletion of genetic material on chromosome 17, more specifically 17p11.2 (PEDNEUR). It is estimated that SMS occurs in about 1 in every 25,000 births, affects boys and girls equally, and is underdiagnosed because there’s not as much awareness about it compared to other disorders and syndromes (PRISMS). Therefore, the prevalence may be 1 in every 15,000 births, and most of the people with SMS have been identified in the last 5 to 10 years due to improved cytogenetic testing (PEDNEUR). SMS was first discovered by Ann C.M. Smith a genetic counselor, and Dr. R. Ellen Magenis a physician and chromosome expert in 1986 (PEDNEUR).

Baby boy A was born on October 13th 2017 to a 33 year old mother. He was born at 26 weeks gestation and weighed 940 grams. The birth was complicated by preterm labor with advanced dilation. Maternal medications included prenatal vitamins for nutrition. The mother was also given one dose of Betamethasone (BMZ) which is a corticosteroid to help the baby’s lungs to mature. She was also given Magnesium sulfate (MgSO4) to help delay preterm birth. She received Ampicillin to help prevent infection. The mother has no history of drug use.

• Severe skin reactions and the symptoms are, swelling in the face or tongue, fever, sore throat, skin pain, accompanied by spreading purple or red skin rash which leads to blistering and peeling

Adverse Effects: Dizziness, fatigue, stroke, pain, headache, malaise, fever, vertigo, depression, insomnia, syncope, hypotension, AV heart block, bradycardia, edema, peripheral edema, hypovolemia, fluid overload, hypertension, chest pain, palpitations, abnormal vision, blurred vision, diarrhea, nausea, vomiting, abdominal pain, hematuria, UTI, thrombocytopenia, hyperkalemia, hypoglycemia, weight loss, hypercholesterolemia, muscle cramps, cough, and rales.

An imbalance in sodium would cause either hyponatremia or hypernatremia. In hyponatremia, some of the symptoms include: bounding pulse, tachycardia, weight gain, edema, increased peristalsis, abdominal cramps, level of conscious changes, muscle weakness, orthostatic hypotension, and seizures. In hypernatremia, some symptoms include: jittery eye movement, abnormal speech pattern, muscle twitching, confusion, lethargic, decreased bowel sounds, and decreased cardiac contractility. An imbalance in potassium would cause either hyperkalemia or hypokalemia. Some symptoms for hyperkalemia include: paresthesia, paralysis, initial tachycardia then bradycardia, cardiac dysrhythmias, ECG changes, tall T waves, increased motility, diarrhea, and hyperactive bowel sounds. In hypokalemia, some symptoms include: weak irregular pulse, ECG changes, flat t wave, u wave, decreased deep tendon reflexes, constipation/ileus, and skeletal weakness. An imbalance in chloride would result in hyperchloremia or hypochloremia. Some symptoms of hyperchloremia include: dehydration, high blood sugar, Kussmaul’s respirations, dyspnea, intense thirst, pitting edema, and hypertension. Symptoms of hypochloremia include: dehydration, muscle hyper tonicity, tetany, shallow breathing, sweating, and high

Thomas is a 13-year old Caucasian male who presents to the pediatric department with his mom to discuss behavioral concerns. Thomas’s mother reports that his teachers have become concerned about his grades and he suddenly seems uninterested in activities he used to enjoy. After learning about Thomas’s history, seeing the physical assessment documentation and the laboratory data, I conclude that Thomas has Klinefelter Syndrome. The pathophysiology topics to be covered concerning Klinefelter Syndrome (KS) includes why there is an extra X chromosome and the affects the extra X chromosome has on the body.

The Sodium-Potassium Pump is a structure known as a cell-membrane pump that uses energy to transport Sodium and Potassium ions in and out of the cell. There are other varieties of cell membrane pump, however the sodium-potassium pump plays a vital role in maintaining a cell's homeostasis.

Signs and symptoms of DM vary from person to person. However, there are some common signs and symptoms, such as the 3 P’s of Diabetes. Polyuria means urinating in excess, Polydipsia means excessive thirst and Polyphagia means excessive hunger.

There are three common kidney abnormalities in those women with Turner syndrome. The first one is horseshoe-shaped kidney on one side of the body. The second one is an abnormal urine-collecting system. The third one is poor blood flow to the kidneys. Some of these abnormalities can be treated by plastic surgery. Most of these female patients with Turner syndrome have normal renal function. Some of them can even tolerate these abnormality for whole life. However, hypertention often occurs simultaneously which is associated with kidney anatomy abnormalities.

Kleinfelter’s Syndrome is a syndrome that I find interesting. This syndrome affects males and is usually not diagnosed until around the age of puberty. In order to reach a diagnosis, a doctor may do a physical exam, get a health history and perform a karyotype. Kleinfelter’s syndrome occurs with the presence of extra X chromosomes in males. The extra X occurs when the egg or sperm splits unevenly. Even though this is considered a genetic syndrome, because of how it occurs, it cannot be passed on. There are three different ways that Kleinfelter’s may present.

The signs and symptoms include persistent vomiting, increased salvia production, weight loss, dehydration, vertigo, and constipation.

At plant cellular membrane level, the highly negative membrane potential (below -100 mV) and the intracellular anion accumulation dictate anion efflux through anion channels when they are at open state. In cases of carboxylic anions such as malate and citrate, the pH gradient which is