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A female who carries an X-linked recessive mutation on one of her 2 X chromosomes may express the mutant phenotype if most of her cells happen to weight loss 5 days 120 mg orlistat otc have inactivated the X chromosome carrying the normal gene weight loss green smoothie order line orlistat. A female carrier of an X-linked recessive disease may not detectable by gene product assays weight loss pills or powder buy generic orlistat 60mg online. Points 3 & 4 above illustrate that aneuploidy of the sex chromosomes is better tolerated than the aneuploidy of the autosomes. Klinefelter syndrome - is a disorder that occurs when there are at least 2 X chromosomes & 1 or more Y chromosomes. In addition, it also shows increased plasma estradiol levels (by unknown mechanism). Turner syndrome is a disorder that occurs when there is a complete or partial monosomy of the X chromosome. Decreased estrogen production & increased pituitary gonadotropins from loss of feedback inhibition. Short stature (rarely exceeding 150cm in height), webbed neck, shield-like chest with widely spaced nipples, & wide carrying angles of the arms. Congenital heart disease (especially preductal coarctation of the aorta & bicuspid aortic valve). Disorders of sexual differentiation (Sexual ambiguity) are said to be present when genetic sex, gonadal sex, or genital sex of an individual are discordant. No matter how many X chromosomes are present, the presence of a single Y chromosome leads to testicular development & a genetic male. The gene responsible for the development of the testes is localized to the Y chromosome. Ductal sex - depends on the presence of derivatives of the Mullerian or Wolffian ducts. Sexual ambiguity is present whenever there is discordance among these various criteria for determining sex. A female pseudohermaphrodite has a ovaries but male external genitalia (or the external genitalia are not clearly male). Female pseudohermaphroditism - is caused by exposure of the fetus to increased androgenic hormones during the early part of gestation as occurs in congenital adrenal hyperplasia, androgen-secreting ovarian or adrenal tumor in the mother, or hormones administered to the mother during pregnancy. Male pseudohermaphroditism - has a Y chromosome & only testes but the genital ducts or the external genitalia are either ambiguous or completely female. Disorders with multifactorial inheritance are more common than mendelian disorders. The disease clinically manifests only when the combined influences of the genes & the environment cross a certain threshold. Hence, if a patient has more severe expression of the disease, then his relatives have a greater risk of expressing the disease (because they have a higher chance inheriting a 1. The risk of expressing a multifactorial disorder partly depends on the number of inherited 135 greater number of the mutant gene). In addition, the greater the number of affected relatives, the higher the risk for other relatives. The risk of recurrence of the disorder is the same for all first degree relatives of the affected individual & this is in the range of 2-7%. Hence, if parents have had one affected child, then risk that the next child will be affected is between 2 & 7%. The risk of recurrence of the phenotypic abnormality in subsequent pregnancies depends on the outcome in previous pregnancies. When one child is affected, the chance that the next child will be affected is 7%. When 2 children are affected, then the chance that the next child will be affected increases to 9%. Single gene disorders with nonclassic inheritance are rare & are briefly mentioned here.

X-linked mental retardation and macroorchidism

Several host related factors have been identified to weight loss utah 120 mg orlistat amex have operated in relation to weight loss hormone buy orlistat 60mg cheap specific genetic function and difference in the immune response of individuals weight loss pills in pakistan purchase orlistat 120mg free shipping. It is characterized by an exudative and proliferative inflammatory lesion of the connective tissue, especially that of the heart, joints, blood vessels, and subcutaneous tissue. Clinical Manifestation Acute rheumatic fever is associated with 2 distinct patterns of presentation. It typically begins as polyarthritis 2-6 weeks after streptococcal pharyngitis, and it is usually characterized by fever and toxicity. Younger children tend to develop carditis first, while older patients tend to develop arthritis first. Jones criteria developed by the American Heart Association is used to make the diagnosis. In addition to evidence of a previous streptococcal infection, the diagnosis of acute rheumatic fever requires 2 major Jones criteria or 1 major plus 2 minor Jones criteria. Healing of rheumatic valvulitis will lead into fibrous thickening and adhesion, resulting in progressive valvular damage. They are firm painless nodules on the extensor surfaces of wrists, elbows, and knees. Onset may be delayed for several months to years and may cease when the patient is asleep. Congestive heart failure: Treats by conventional therapy such as digoxin and diuretics. But in symptomatic patients benzodiazepines (diazepam) or phenothiazines (haloperidol) may be helpful in controlling symptoms. Administer secondary prophylaxis: is indicated for all patients with rheumatic fever. Taking benzathin penicillin is the first choice for better compliance and longer prevention. Congestive Heart Failure Learning objectives: at the end of this lesson the student will be able to: 1. Etiology: the most common cause of heart failure is left ventricular systolic dysfunction (about 60% to 70% of patients). In compensated state patients are asymptomatic; however as patients have little additional reserve, they become symptomatic in the presence of these precipitating factors. Initially, as a direct result of inadequate cardiac output and systemic perfusion, the body activates several neurohormonal pathways in order to increase circulating blood volume. However, left ventricular chamber dilatation causes increased wall tension, worsens subendocardial myocardial perfusion, and may provoke ischemia in patients with coronary atherosclerosis. Furthermore, left ventricular chamber dilatation may cause separation of the mitral leaflets and mitral regurgitation with worsening of pulmonary congestion. Enhanced neurohormonal stimulation of the myocardium also causes apoptosis, or programmed cell death, leading to worsening of ventricular contractility. Dyspnea on exertion has been found to be the most sensitive complaint, yet the specificity for dyspnea is less than 60%. Apical impulse frequently is displaced laterally Cardiac auscultation may reveal aortic or mitral valvular abnormalities, S3 or S4. Echocardiography: may help identify valvular abnormalities, ventricular dysfunction, cardiac temponade, pericardial constriction, and pulmonary embolus. Identify and treat the precipitating factors Control the congestive state Improve myocardial performance 213 Internal Medicine 4. Activity and life style modification: o o o Meals should be small in quantity but more frequent. Control of the Congestive state Diuretics: are useful in relieving congestion and reduce or prevent edema. Most patients with heart failure have some degree of symptomatic congestion and benefit from diuretic therapy. Usually a loop diuretic is required, with the addition of a Thiazide diuretic in patients refractory to the loop diuretic alone.

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Increased risk of ventricular arrhythmias is seen when used with volatile anesthetics weight loss 1 generic 60mg orlistat overnight delivery. Related Glossary Terms Autonomic nervous system weight loss 6 weeks postpartum orlistat 60mg low cost, Ephedrine Sulfate weight loss vegetarian diet buy discount orlistat 60mg, Phenylephrine, Shock, Sympathetic nervous system Index Find Term Chapter 3 - Regional Anesthesia Chapter 6 - Drug Finder Chapter 6 - Vasoactive Agents Esophageal intubation Esophageal intubation is the unintentional placement of the endotracheal tube into the esophagus rather than into the trachea. Esophageal intubation must be recognized to avoid serious complications such as hypoxia and aspiration. Auscultation of the the chest during manual ventilation reveals the absence of air entry and the chest will not rise in the usual fashion. When an esophageal intubation is recognized, one stops manual ventilation to avoid inflating the stomach and removes the misplaced endotracheal tube. Bag mask ventilation is resumed while preparations are made to optimize the chances of success for the next attempt at intubation. Related Glossary Terms Bag mask ventilation, Capnograph, Difficult airway, Direct laryngoscopy, Hypopharynx, Hypoxemia, Intubation Index Find Term Chapter 1 - Airway Management Etomidate Class Short-acting hypnotic; anesthetic induction agent. The cerebroprotective effects of etomidate make it useful in the management of the head-injured patient. Related Glossary Terms Addisonian crisis, Adrenal suppression, Induction, Ketamine, Propofol, Shock, Sodium Thiopental Index Find Term Chapter 3 - General Anesthesia Chapter 6 - Drug Finder Chapter 6 - Induction Agents Euvolemia Euvolemia indicates that the patient has ideal intravascular volume. If a patient is volume depleted then they are "hypovolemic"; if they are volume overloaded, they are "hypervolemic". Related Glossary Terms Blood products, Colloids, Crystalloid, Maintenance fluid requirements, Pre-operative fluid deficit, Shock, Third space loss Index Find Term Chapter 1 - Fluid Management Extubation Extubation is the removal of the endotracheal tube and is usually performed immediately upon emergence from anesthesia. Evidence suggests that significant morbidity and mortality relating to the airway are as common at emergence (at the time of extubation) as they are on induction (at the time of intubation). Related Glossary Terms Airway obstruction, Anticholinesterase, Aspiration, Difficult airway, Emergence, Laryngospasm, Non-depolarizing muscle relaxants, Patency, Residual block, Reticular activating system, Tidal volume Index Find Term Chapter 1 - Airway Management Chapter 3 - General Anesthesia Chapter 3 - General Anesthesia Fentanyl Class Synthetic opioid analgesic (intermediate-acting); adjunct to anesthesia. The synthetic opioids are not direct myocardial depressants but they do reduce sympathetic drive which may result in decreased cardiac output in patients who are relying on sympathetic tone to support their circulation such as those in hypovolemic or cardiogenic shock. After applying topical anesthetic to the airway, the anesthesiologist uses a fibreoptic bronchoscope (loaded with an endotracheal tube) to identify and pass through the larynx into the trachea. Once in the trachea, the bronchoscope serves as a guide over which the endotracheal tube is passed. Fibreoptic bronchoscopy is used in the management of patients with airways that are known or suspected to be "difficult" from the perspective of direct laryngoscopy. Fibreoptic intubations are also indicated in patients with unstable cervical spines because they can be performed with the neck in the neutral position rather than in the sniffing position. It is also used in the occasional patient with very limited mouth opening as it can be passed though the smallest of openings. Opioids and/or anxiolytics are used judiciously as adjuncts to blunt the cough reflex as well as to make the experience more palatable for the patient. The fibreoptic bronchoscope, passed through an existing endotracheal tube, can be also used by the anesthesiologist to examine the lower airways and remove secretions or other matter. Related Glossary Terms Adjunct, Airway assessment, Antisialagogue, Cough reflex, Difficult airway, Direct laryngoscopy, Intubation, Laryngoscope, Larynx, Lower airway, Mallampati classification, Midazolam, Mouth opening, Neck motion, Opioids, Sniffing position Index Find Term Chapter 1 - Airway Management Flowmeter the anesthetic flowmeter is a component of the anesthetic delivery unit (anesthetic machine) that simultaneously controls and displays the rate of delivery of a given medical gas. There are numerous sophisticated safety features built into the design of the modern anesthetic flowmeter. Related Glossary Terms Anesthetic circuit, Nitrous oxide (N2O), Volatile Index Find Term Chapter 2 - Anesthetic Equipment and Monitoring Flumazenil Flumazenil is a benzodiazepine antagonist. Related Glossary Terms Midazolam Index Find Term Chapter 3 - General Anesthesia Forced air warming system A forced air warming system is a device that will blow warmed air over the patient. Two different types of blankets (upper body and lower body) can be used to appropriately exclude the surgical site. Forced air warming should be applied to patients undergoing all but the briefest of surgical procedures. Of note, the device can also be used to cool patients who are hyperthermic (such as those experiencing a malignant hyperthermic reaction), a much less commonly-indicated application. This includes somatic reflexes (such as movement or withdrawal) as well as the autonomic reflexes (such as hypertension, tachycardia, sweating and tearing).

Renal masses An abdominal mass identified on palpating the abdomen should be investigated promptly by ultra soundscan weight loss pills for 16 year old cheap orlistat online american express. Thisformofpolycystickidneydiseasemustbedistin guished from the autosomal dominant adulttype polycystic kidney disease tomato plant weight loss purchase orlistat line, which has a more benign prognosis in childhood with onset of renal failure in adulthood slim9 weight loss pills generic orlistat 60mg free shipping. Whentheyoccur,predisposingcausesmustbesought: Renal tubular disorders Abnormalities of renal tubular function may occur at anypointalongthelengthofthenephronandaffect anyofthesubstanceshandledbyit. Calciumcontaining stones occur in idiopathic hypercalciuria, the most common metabolic abnormality, and with increased urinary urate and oxalate excretion. Deposition of calcium in the parenchyma (nephrocalcinosis) may occur with hypercalciuria, hyperoxaluria and distal renaltubularacidosis. Stonesthatarenotpassedspontaneouslyshouldbe removed, by either lithotripsy or surgery, and any predisposing structural anomaly repaired. A high Generalised proximal tubular dysfunction (Fanconi syndrome) Proximal tubule cells are among the most metaboli callyactiveinthebody,soareespeciallyvulnerableto cellular damage. The cardinal features are excessive urinarylossofaminoacids,glucose,phosphate,bicar bonate, sodium, calcium, potassium and urate. Investigationbyultrasoundscanwillidentifyobstruc tion of the urinary tract, the small kidneys of chronic renalfailure,orlarge,brightkidneyswithlossofcortical medullarydifferentiationtypicalofanacuteprocess. The hypovolaemia needs to be urgently corrected with fluid replacement and circulatory supportifacutetubularnecrosisistobeavoided. Renal failure Ifthereiscirculatoryoverload,restrictionoffluidintake andchallengewithadiureticmayincreaseurineoutput sufficiently to allow gradual correction of sodium and water balance. Emergency management of metabolic acidosis, hyperkalaemia and hyperphosphataemia is shown in Table18. Ifthecauseofrenalfailureisnotobvious, a renal biopsy should be performed to identify rapidly progressive glomerulonephritis, as this may need immediate treatment with immunosuppression. Postrenal failure Thisrequiresassessmentofthesiteofobstructionand relief by nephrostomy or bladder catheterisation. If there is cardiacdecompensationorhypercatabolism,continu ousarteriovenousorvenovenoushaemofiltrationpro vides gentle, continuous dialysis and fluid removal. Acute renal failure in childhood generally carries a goodprognosisforrenalrecoveryunlesscomplicating a lifethreatening condition. Plateletsareconsumed in this process and microangiopathic haemolytic anemia results from damage to red blood cells as they circulate through the microcirculation, which is occluded. Manychildrenwithchronicrenalfailurehavehadtheir renaldiseasedetectedbeforebirthbyantenatalultra sound or have previously identified renal disease. Management Theaimsofmanagementaretopreventthesymptoms and metabolic abnormalities of chronic renal failure, to allow normal growth and development and to preserve residual renal function. Prevention of renal osteodystrophy Phosphate retention and hypocalcaemia due to decreased activation of vitamin D leads to secondary hyperparathyroidism, which results in osteitis fibrosa andosteomalacia. Congenitalandfamilialcausesaremore common in childhood than are acquired diseases (Table18. Control of salt and water balance and acidosis Manychildrenwithchronicrenalfailurecausedbycon genital structural malformations and renal dysplasia have an obligatory loss of salt and water. Hormonal abnormalities Many hormonal abnormalities occur in chronic renal failure. Most importantly, there is growth hormone resistancewithhighgrowthhormonelevelsbutpoor growth. Recombinant human growth hormone has beenshowntobeeffectiveinimprovinggrowthforup to5yearsoftreatment,butwhetheritimprovesfinal heightremainsunknown. Manychildrenwithchronic renal failure have delayed puberty and a subnormal pubertalgrowthspurt. Ideally, a child is transplanted before dialysis is required, but if this is not possible, a period of dialysismaybenecessary.


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