Reservoir—Known or presumed reservoirs include humans cheap clindamycin 150mg otc, wild Canidae (foxes and jackals) and domestic dogs cheap clindamycin 150 mg on-line. In foci of anthroponotic visceral leishmaniasis cheap clindamycin 150mg overnight delivery, humans are the sole reservoir and transmission occurs from person to person through the sandﬂy bite buy 150 mg clindamycin amex. In foci of zoonotic visceral leishmaniasis, dogs, the domestic animal reservoir, constitute the main source of infection for sandﬂies. Co-infected patients infect sandﬂies, acting as human reservoirs even in zoonotic foci. Period of communicability—Not usually transmitted from person to person, but infectious to sandﬂies as long as parasites persist in the circulating blood or skin of the mammalian reservoir host. Infectivity for phlebotomines may persist after clinical recovery of human patients. Evidence indicates that asymptom- atic and subclinical infections are common and that malnutrition predis- poses to clinical disease and activation of inapparent infections. In many developing coun- tries, massive culling of leishmanin-positive dogs has failed, except in China. A recent approach based on insecticide impreg- nated collars has proved effective in the Islamic Republic of Iran, reducing canine and human incidence of visceral leishmaniasis. Control of patient, contacts and the immediate environment: 1) Report to local health authority: In selected leishmaniasis- endemic areas, Class 3 (see Reporting). Cases that do not respond to antimony may be treated with amphotericin B or pentamidine; however these are not used routinely because of toxicity. In India, the disease is less and less responsive to ﬁrst-line drugs (62% of visceral leishmani- asis patients do not respond to pentavalent antimonials) and requires alternative treatment. Epidemic measures: Effective control must include an under- standing of the local ecology and transmission cycle, followed by adoption of practical measures to reduce mortality, stop trans- mission and avoid geographic extension of the epidemic, spe- cially in anthroponotic foci. International measures: Institute coordinated programs of control among neighboring countries where the disease is endemic. Identiﬁcation—A chronic bacterial disease of the skin, peripheral nerves and (in lepromatous patients) the upper airway. The clinical manifestations of the disease vary in a continuous spectrum between 2 polar forms: i) lepromatous (multibacillary) leprosy: symmetrical and bilateral nodules, papules, macules and diffuse inﬁltrations, usually numer- ous and extensive; involvement of the nasal mucosa may lead to crusting, obstructed breathing and epistaxis; ocular involvement leads to iritis and keratitis; ii) tuberculoid (paucibacillary) leprosy: skin lesions single or few, sharply demarcated, anaesthesic or hypoaesthesic; bilateral asymmetrical involvement of peripheral nerves tends to be severe. Indeterminate leprosy is characterized by hypopigmented maculae with ill-deﬁned borders; if untreated, it may progress to tuberculoid, borderline or lepromatous disease. The operational case deﬁnition includes retrieved defaulters with signs of active disease and relapsed cases who have previously completed a full course of treatment. Search for signs of peripheral nerve involvement (hyperesthaesia, anesthaesia, paral- ysis, muscle wasting or trophic ulcers) with bilateral palpation of periph- eral nerves (ulnar nerve at the elbow, peroneal nerve at the head of the ﬁbula and the great auricular nerve) for enlargement and tenderness. Test skin lesions for sensation (light touch, pinprick, temperature discrimina- tion). Differential diagnosis includes many inﬁltrative skin diseases, including lymphomas, lupus erythematosus, psoriasis, scleroderma and neuroﬁbro- matosis. Diffuse cutaneous leishmaniasis, some mycoses, myxoedema and pachydermoperiostosis may resemble lepromatous leprosy, but acid-fast bacilli are not present. Several skin conditions, such as vitiligo, tinea versicolor, pityriasis alba, nutritional dyschromia, nevus and scars may resemble tuberculoid leprosy. In the paucibacillary form the bacilli may be so few that they are not demonstrable. Leprosy cases can be classiﬁed as follows: - Multibacillary leprosy: more than 5 patches or lesions on the skin - Paucibacillary leprosy: 1 to 5 patches or lesions on the skin. Occurrence—During 2002, 620 000 persons were diagnosed with leprosy, 90% of them in Brazil, India, Madagascar, Mozambique, Nepal, and in the United Republic of Tanzania. Most of these cases are in immigrants and refugees whose disease was acquired in their native countries; however, the disease remains endemic in California, Hawaii, Louisiana, Texas and Puerto Rico. Naturally acquired leprosy has been observed in a mangabey monkey and in a chimpanzee captured in Nigeria and Sierra Leone, respectively. The disease is in all likelihood transmitted from the nasal mucosa of a patient to the skin and respiratory tract of another person. Although the bacillus can survive up to 7 days in dried nasal secretions, indirect transmission is unlikely. Incubation period—This ranges from 9 months to 20 years, the average is probably 4 years for tuberculoid leprosy and twice that for lepromatous leprosy. The disease is rarely seen in children under age 3; however, more than 50 cases have been identiﬁed in children under 1, the youngest at 2. Susceptibility—The persistence and form of leprosy depend on the ability to develop effective cell-mediated immunity. The immunological lepromin test used earlier should be reserved for research activities. Methods of control—The availability of effective and time-limited ambulatory treatment, with rapid elimination of infectiousness, has changed management. Hospitalization should now be limited only to cases such as the surgical correction of deformities, treatment of ulcers resulting from anaesthesia, and severe leprosy reactions. Dapsone chemoprophylaxis is not recommended (limited effec- tiveness and danger of resistance). The availability of drugs effective in treatment and in rapid elimination of infectiousness, such as rifampicin, has changed the management of the patient with leprosy, from societal isolation with attendant despair, to ambulatory treatment without the need for hospitalization. Control of patient, contacts and the immediate environment: 1) Report to local health authority: Case report obligatory in many and countries and desirable in all, Class 2 (see Report- ing). The duration of therapy for multibacillary leprosy can be shortened to 12 months from the previously recom- mended 24 months. Patients under treatment should be monitored for drug side-effects, for leprosy reactions and for development of trophic ulcers. Adults with multibacillary leprosy: the standard regimen is a combination of the following for 12 months: » Rifampicin: 600 mg once a month » Dapsone: 100 mg once a day » Clofazimine: 50 mg once a day and 300 mg once a month. Adults with paucibacillary leprosy: the standard regimen is a combination of the following for 6 months: » Rifampicin: 600 mg once a month » Dapsone: 100 mg once a day. Patients must be advised to complete the full course of treatment and to seek care in the event of drug side-effects (allergic reaction) and immunological reactions (neuritis lead- ing to damage of the peripheral nerve trunks). Treatment of reactions: Corticosteroids are drugs of choice in the management of reactions associated with neuritis. In view of the risk of deformed births among users, and despite its possible usefulness for other conditions, thalidomide has no place in the treatment of leprosy. During wars, diagnosis and treatment of leprosy patients has often been neglected. Identiﬁcation—A group of zoonotic bacterial diseases with pro- tean manifestations. Common features are fever with sudden onset, headache, chills, severe myalgia (calves and thighs) and conjunctival suffusion. Other manifestations that may be present are diphasic fever, meningitis, rash (palatal exanthem), hemolytic anemia, hemorrhage into skin and mucous membranes, hepatorenal failure, jaundice, mental con- fusion and depression, myocarditis and pulmonary involvement with or without hemorrhage and hemoptysis. In areas of endemic leptospirosis, a majority of infections are clinically inapparent or too mild to be diagnosed deﬁnitively.
When examining a child with a heart murmur features of pathological murmurs should be carefully examined to rule out presence of con- genital heart disease (Table 36 generic clindamycin 150 mg without prescription. Heart murmurs conforming to any type of inno- cent heart murmurs do not necessarily require referral to a pediatric cardiologist discount clindamycin 150mg mastercard. On the other hand 150 mg clindamycin for sale, lack of clarity of the nature of the murmur examined or in the presence of any feature that may indicate that the murmur is pathological in nature clindamycin 150 mg on-line, referral to a pediatric cardiologist for further evaluation is necessary (Table 36. History or physical examination consistent with pathological murmur History of frequent respiratory infections or history of atypical reactive airway disease Patients with syndromes which may be associated with heart diseases such as trisomy 21, Turner syndrome, Noonan syndrome, William’s syndrome Family history of congenital heart disease Change in nature of murmur, such as becoming louder, or becoming systolic and diastolic Evidence of cardiac disease by chest X-ray or electrocardiography Peripheral Pulmonary Stenosis This is the most common type of innocent heart murmurs in newborn children and infants younger than 2 months of age. Turbulent blood flow in relatively small peripheral pulmonary arteries cause this type of innocent heart murmur. The pulmonary arteries while in-utero carry small volume of blood to the collapsed lungs. Approximately 5–10% of blood ejected from the right ventricle travels through the pulmonary circulation; while the majority of blood ejected from the right ventricle crosses the patent ductus arteriosus to supply blood to the descending aorta. Immediately after birth the entire right ventricular output is ejected to the right and left pulmonary arteries, thus increasing blood flow through each pulmonary artery by approximately sevenfold. This will result in relative stenosis of these normal pulmonary arteries which require approximately 6–8 weeks to reach a size suitable for this increase in blood flow thus resulting in elimination of this innocent heart murmur by 6–8 weeks of age. The murmur is systolic ejection in type, typically 1–2/6 in intensity, although it may be as loud as 3/6. The murmur is best heard over the left upper sternal border with radiation into one or both axillae. Physiologic Pulmonary Flow Murmur Blood flow through the pulmonary valve may be audible in children due to relative hyper- dynamic status of blood circulation secondary to faster heart rate as well as thin chest wall allowing easier detection of normal blood flow through the pulmonary valve. This type of murmur is typically 1–2/6 in intensity and occasionally as loud as 3/6. The murmur is heard best over the left upper sternal border in supine position and is significantly reduced in intensity or completely resolves when the child sits or stands up as well as with 424 Ra-id Abdulla Valsalva maneuver due to reduction in blood volume returning to the chest (decrease in pre-load). Stills Murmur Stills murmur is similar to physiologic pulmonary flow murmur, but in this case the murmur is due to blood flow across the aortic valve. The murmur is due to relative hyper- dynamic status of blood circulation secondary to faster heart rate as well as thin chest wall allowing easier detection of normal blood flow through a normal aortic valve. This type of murmur is typically 1–2/6 in intensity and occasionally as loud as 3/6. The murmur is heard best over the right upper sternal border in supine position and is significantly reduced in intensity or completely resolves when the child sits or stands up as well as with Valsalva maneuver due to reduction in blood volume returning to the chest (decrease in pre-load). Venous Hum This is a soft continuous murmur heard over the lateral aspect of the neck generated by blood flow in the internal jugular vein. The close proximity of the internal jugu- lar vein to the skin allows normal blood flow to be heard through auscultation even though there is no significant turbulence. Venous hum is soft, typically 1–2/6 in intensity and heard throughout systole and most diastole. An important distinction between venous hum and murmur produced by a patent ductus arteriosus or collateral vessels include the following: – Intensity: Venous hum murmur is soft, while that of patent ductus arteriosus is harsh. Mammary Soufflé This murmur is caused by engorged arteries in the breasts due to rapid growth such as seen during pregnancy or adolescence. The murmur is systolic or continuous and heard over a wide area over the anterior chest. These murmurs tend to be 1–2/6 in intensity and do not change with Valsalva maneuver or patient’s position. The child is thriving well with no significant medical problems except for reactive airway disease with occasional need for albuterol inhalation. Physical examination: Heart rate was 100 bpm, regular, respiratory rate was 30/min and blood pressure in the right upper extremity was 90/55 mmHg. Child appeared in no respiratory distress, mucosa was pink with good peripheral pulses and perfu- sion. Palpation of the precordium reveals normal location and intensity of the left ventricle and right ventricle impulses. Auscultation demonstrates a normal first heart sound, second heart sound split and varied with respiration. A 2/6 systolic ejection murmur was heard over the right upper sternal border with no radiation. Murmur was soft and vibratory in quality with significant reduction in intensity while standing, while becoming well heard in supine position. Assessment: The child appears to be healthy; the physical examination is within normal limits. The quality of murmur and its diminished intensity in upright posi- tion suggests innocence of the heart murmur. This pediatrician’s records indicate that previous examination revealed similar murmur. Plan: It is reasonable for the pediatrician at this point to choose to continue observing this heart murmur without referral to a pediatric cardiologist. Case 2 History: A 2-week-old child is seen by a pediatrician for the first time for a well child care visit. The child is a product of 37 week gestation with no com- plication other than premature onset of labor. Physical examination: Heart rate was 140 bpm, regular, respiratory rate was 35/ min and blood pressure in the right upper extremity was 80/45 mmHg. Child had normal feature and appeared in no respiratory distress, mucosa was pink with good 426 Ra-id Abdulla peripheral pulses and perfusion. Palpation of the precordium reveals nor- mal location and intensity of the left ventricle and right ventricle impulses. Auscultation demonstrates a normal first heart sound, second heart sound most probably split, however was difficult to evaluate due to rapid heart rate. A 2/6 sys- tolic ejection murmur was heard over the left upper sternal border with radiation into left axilla. It is difficult to subject these types of murmurs to assessment while in different position or with Valsalva maneuver due to child’s age. Plan: The pediatrician may choose to see the child again in 2 weeks for re-evaluation of heart murmur. On the other hand, if the murmur becomes louder, or if the child shows any features of heart disease, then referral to a pediatric cardiologist is essential to rule out pathological causes for this murmur. Holmes and Jacquelyn Busse Key Facts • The prevalence of obesity among school age children is increasing expo- nentially over the past 3 decades. Holmes (*) Department of Pediatric Cardiology, John Hopkins Medical Institutes, 600 N. Busse Key Facts (continued) • Pharmacotherapy should be used in patients greater than 8 years of age with total cholesterol persistently higher than 190 mg/dL despite changes in lifestyle and diet.
Vertical transmission is rare discount 150mg clindamycin, and breast-feed- hepatitis B cheap 150mg clindamycin free shipping, prostitutes purchase clindamycin 150 mg fast delivery, and prisoners purchase clindamycin 150 mg with visa. Condoms ing has not been shown to transmit the virus to the and barriers such as dental dams can help prevent infant. Symptoms hepatitis C Formerly known as non-A, non-B The incubation period is 15 to 160 days but aver- hepatitis, hepatitis C is a major health concern ages six to seven weeks. The usual symptoms are worldwide because it is a common cause of chronic fatigue, jaundice (yellowing of skin), diarrhea, liver disease. Early signs during acute infection are malaise, anorexia, and jaundice; typically, Cause these are not diagnosed as signs of hepatitis C. It was not until 1992 that screeners began of this illness are often mild, and even more com- checking the blood supplies for hepatitis C. According to Hospital Practice (January 15, Most people with hepatitis C infection do not 2000), known risk factors for hepatitis C are a know they have it because symptoms do not nonautologous blood transfusion before 1992, develop. For some, this comes as a shock care worker), long-term hemodialysis, birth to an because their high-risk behavior occurred in the infected mother, multiple sex partners or history distant past. Usu- ally, a blood test will yield a positive ﬁnding of hep- hepatitis D Also termed delta hepatitis, hepatitis atitis C about six weeks after infection, but it can D occurs only in those who have hepatitis B infec- take months longer than that. The individual test- simultaneously infected with hepatitis D and B or ing himself or herself uses a safety lancet to take a superinfected with D while carrying B. Ten business hepatitis G Previously seen as an innocuous days later, the person can learn the results by virus first discovered in 1995, hepatitis G has also phone. Because about 4 million from other hepatitis viruses in that it does not Americans have hepatitis C, which can be trans- cause any disease, including hepatitis. Researchers mitted vertically, it is important to screen women hope to identify the path that hepatitis G takes to who have high risk for this disease. Sexually Treatment transmitted diseases are an important cause of Recommended treatment for hepatitis C is 48 abnormal liver chemical ﬁndings, and hepatotoxic- weeks of combination therapy with the antiviral ity (liver toxicity) is a risk of use of oral therapy (ﬂu- agents alpha interferon and ribavarin. These screening for hepatitis A and B and immunization are different viruses, but they cause similar symp- against A and B if not immune, and monitoring of toms. At the same time, infections for hepatitis C routinely because the disease can with both viruses can occur any place on the body stay hidden for up to 30 years. The herpesvirus family also includes vari- the United States in the year 2001, it was com- cella zoster virus (the cause of chickenpox and mon practice to bench those with suspicious shingles), Epstein-Barr virus (the cause of lesions and to sterilize mats. It can be a serious compli- when the individual is a young child and is kissed cation because it sometimes leads to blindness. Of erally lasts a few weeks, after which pain may per- genital herpes cases in the United States, about 70 sist for months in the area of the nerve. Some of the pos- a male and a female in which the penis penetrates sible symptoms are headache, fever, vomiting, and the vagina or the anus. Wrestlers investigated in one study risk of being exposed to a sexually transmitted dis- had lesions on the head and neck, the most vul- ease, including contraction of the human immun- nerable parts of the body for wrestling abrasions. Among the 700,000 wrestlers in achievement, poverty, mental illness, and partici- 78 high-risk sex pation in other high-risk behavior. In 2001, according to the Centers for Disease Control and Prevention, The following are biological factors that lead to 14 percent of the U. According to a 1999 survey of American associated with sex with a person who was an teens, only 20 percent recognize that there is a risk injection drug user. The most common modes of transmission are Cultural aspects must also be taken into consider- sexual activity and sharing of needles used to ation. During sexual activity, the virus is more prevalent; thus, in these cases, the use of enters the body via the lining of the vagina, shooting galleries must be discouraged, as must vulva, penis, rectum, or mouth. This means prevention messages ted more frequently by means of transfusions that target these populations must be shaped with with contaminated blood or blood components. Union Positiva, a 50 percent chance of development of ﬂulike founded in South Florida to help Spanish speakers symptoms. When years and counseling, prevention efforts, street outreach, pass and there is a reemergence of high levels of treatment education, and referrals. Sollie attributes this to toms, the virus is still replicating at very high lev- cultural taboos among Hispanics concerning dis- els. Researchers are now try- include the adverse effects of drug therapy, result- ing to activate the latent virus form in order to ing from toxicities and dosing constraints. This is a mononucleosislike illness— ment or psychosis, peripheral neuropathy or pharyngitis, rash, hepatitis, aseptic meningitis. These are critical infection neuropathy, radiculopathy, brachial neuropathy, fighters, so as these are disabled or killed, the and Guillain-Barré syndrome. Severe gingivitis and dryness of the The speciﬁc immunologic proﬁle that is typical mouth are not unusual. In some people, it takes six months for hypertriglyceridemia large enough quantities to allow standard blood tests to produce an accurate result to appear. People can also get and additions: test kits through pharmacies and phone order and use these at home. In symptom-free infants, a deﬁnitive diagnosis Elaborating on these recommendations pub- cannot be made until the child is at least 15 lished in Hospital Medicine (October 1999), Consul- months old. It is also Complications usually take the form of opportunis- recommended to avoid sexual practices that may tic infections. Update in Sexually Transmitted Diseases result in oral–fecal exposure, which can lead to 2001 alludes to current issues related to opportunis- intestinal infections. It is the set point that indicates the clinical tious Disease Society of America offer revised course that person’s disease will take years down guidelines for preventing opportunistic infections the road when the virus “reactivates. One intensive Seroprevalence three-year program, which included sex educa- Seroprevalence is an indicator of how far-ranging a tion, health care, and activities, was reported to disease is at a given time. Better results were found in federally Activist Groups funded evaluation of abstinence-only programs. In recent cusses contraception does not make teens begin years, new chapters have been formed with the having sex sooner, increase their frequency of thrusts of reemphasizing safe sex and lobbying sexual activity, or cause than to sample a greater Washington, D. With sexually transmit- reportedly responsible for increasing the rate of ted diseases looming large as an overwhelming use of contraceptives. Two barriers to communication, according to the rate of sexual activity or hasten its onset. This shows an important trend: even cles as a launching pad for productive discussions. Some states also have mandatory testing infections was seen in females (64 percent) than in and disclosure rules. An example in injection drug users; and 8 percent, young men the framework of sexually transmitted diseases is infected heterosexually. New medications, 39, 173,512; 40 to 44, 128,177; 45 to 49, 74,724; 50 however, now enable these individuals to live for to 54, 39,625; 55 to 59, 21,685; 60 to 64, 12,023; 65 many years. This The rate for whites is 349 per 100,000; African underscores the belief of experts that prevention Americans post 423 per 100,000. Although some 2001) were New York City, 126,237; Los Angeles, communities have made tremendous strides in 43,488; San Francisco, 28,438; Miami, 25,357; reducing high-risk behavior, a recent trend in Washington, D.
Treatment focuses on keeping the afected person comfortable with proper nutrition and hydration and controlling seizures with medication clindamycin 150mg generic. Most people with Canavan disease die in childhood best clindamycin 150 mg, although some survive into their teens or early twenties purchase clindamycin 150mg on line. Detection Population Rate* <10% African American <10% Ashkenazi Jewish <10% Eastern Asia <10% Finland <10% French Canadian or Cajun <10% Hispanic <10% Middle East <10% Native American <10% Northwestern Europe <10% Oceania <10% South Asia <10% Southeast Asia <10% Southern Europe * Detection rates shown are for genotyping purchase clindamycin 150 mg overnight delivery. Symptoms occur in severe episodes, often during long periods without eating and/or during times of fever or gastrointestinal illness. A key symptom of the disease is low blood sugar (hypoglycemia) combined with low blood levels of ketones, a by-product of fat breakdown which is used for energy. Prolonged periods of hypoketotic hypoglycemia can lead to loss of consciousness or seizures. This can cause nausea, abdominal pain, fatigue, and frequent thirst and urination. The disease is thought to be more common among Hutterite people in the northern United States and Canada as well as the Inuit people of northern Canada, Alaska, and Greenland. A physician will recommend a modifed diet, typically with high-carbohydrate, low- fat foods. A corn starch solution consumed regularly overnight will provide a slow release of energy that prevents blood sugar from dipping to dangerously low levels. When hypoglycemia does occur, it needs to be quickly treated with an intravenous sugar solution in order to prevent damage to the brain. Detection Population Rate* 80% African American 80% Ashkenazi Jewish 80% Eastern Asia 80% Finland 80% French Canadian or Cajun 80% Hispanic 80% Middle East 80% Native American 80% Northwestern Europe 80% Oceania 80% South Asia 80% Southeast Asia 80% Southern Europe * Detection rates shown are for genotyping. There are three versions of the disease, listed below, each with a very diferent profle. Symptoms begin within days of birth and include liver failure, respiratory failure, a weakened and/or infamed heart, irregular heartbeat leading to heart attack, kidney disease, and brain abnormalities. They include liver failure, a weakened and/or infamed heart, seizures, low blood sugar, abdominal pain, headache, muscle weakness in the arms and legs, and irregular heartbeat which can result in sudden death during infancy. In many people with the disease, muscle tissue breaks down during these periods, causing brown or red-colored urine. These attacks can be brought on by exercise, exposure to cold, stress, general anesthesia, sleep deprivation, or long periods of time without eating. Some people experience a limited number of severe attacks with long periods of normalcy. A smaller number of people experience frequent muscle pain that impairs their normal activity. The lethal neonatal form has been documented in 13 families, while the severe infantile hepatocardiomuscular form has been studied in 20 families. There are more than 200 known cases of the myopathic form, however scientists believe this form often goes unrecognized, particularly in its mildest cases, and may be more common than studies have indicated. For people with the myopathic form, there are recommendations that can help prevent attacks. Circumstances to avoid include strenuous exercise, long periods of time without eating, and extreme cold. They should also notify their physician before undergoing general anesthesia, as this can provoke an episode of muscle pain and weakness. Infants and children with the severe infantile hepatocardiomuscular form are susceptible to life-threatening heart problems and typically have shortened lifespans with numerous medical problems. People with the myopathic form of the disease typically live normal lifespans with periodic muscle problems. This form of the disease is usually manageable and allows for a good quality of life. The Counsyl Family Prep Screen - Disease Reference Book Page 53 of 287 Cartilage-Hair Hypoplasia Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* 48% African American 48% Ashkenazi Jewish 48% Eastern Asia 92% Finland 48% French Canadian or Cajun 48% Hispanic 48% Middle East 48% Native American 48% Northwestern Europe 48% Oceania 48% South Asia 48% Southeast Asia 48% Southern Europe * Detection rates shown are for genotyping. One study indicated that 1 in 19 Amish were carriers of the disease and 1 in 1340 Amish babies were born with the disease. It is also more common The Counsyl Family Prep Screen - Disease Reference Book Page 54 of 287 in the Finnish population where 1 in 76 is a carrier and 1 in 23,000 babies has the disease. Infections, particularly those in childhood, should be given close medical attention. Those with extreme immunodefciency may want to consider bone marrow transplantation to ameliorate this symptom. The Counsyl Family Prep Screen - Disease Reference Book Page 55 of 287 Choroideremia Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* <10% African American <10% Ashkenazi Jewish <10% Eastern Asia 75% Finland <10% French Canadian or Cajun <10% Hispanic <10% Middle East <10% Native American <10% Northwestern Europe <10% Oceania <10% South Asia <10% Southeast Asia <10% Southern Europe * Detection rates shown are for genotyping. The condition causes tissues in the back of the eye, namely the retina, photoreceptors, and choroid (a network of blood vessels that lies between the retina and the white of the eye) to degenerate over time. Night blindness is typically the frst symptom, followed by a loss of peripheral vision. These symptoms typically develop before the age of 20, although the rate of degeneration varies greatly from person to person, even among members of the same family. The Counsyl Family Prep Screen - Disease Reference Book Page 56 of 287 How common is Choroideremia? Fresh fruits and vegetables, an antioxidant supplement, and omega-3 fatty acids—provided either through supplements or foods such as fsh—are often recommended by a physician. Treatments for vision loss are similar to those recommended for any visually- impaired person. Counseling may be helpful to cope with the emotional efects of living with decreased vision. People can live long, productive lives with choroideremia, albeit with progressive visual impairment. The Counsyl Family Prep Screen - Disease Reference Book Page 57 of 287 Citrullinemia Type 1 Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* 20% African American 20% Ashkenazi Jewish 50% Eastern Asia 20% Finland 20% French Canadian or Cajun 20% Hispanic 20% Middle East 20% Native American 20% Northwestern Europe 20% Oceania 20% South Asia 20% Southeast Asia 20% Southern Europe * Detection rates shown are for genotyping. Citrullinemia type I is a disease in which ammonia and other toxic substances build up in the blood, causing life-threatening complications shortly after birth. While infants with citrullinemia type I appear normal at birth, within the frst week of life, most will become lethargic and display poor feeding, vomiting, and seizures that often lead to unconsciousness, stroke, increased pressure around the brain, and death if untreated. While there are less severe and later-onset versions of citrullinemia type I, the mutations for which Counsyl screens are associated with the more severe form that afects infants shortly after birth. Citrullinemia type I belongs to a group of diseases known as urea cycle disorders.
U. Raid. Lipscomb University.