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Both males and females may exhibit rapid growth in childhood discount carafate 1000mg, shorter than average stature in adulthood purchase 1000mg carafate otc, virilization 1000mg carafate amex, and infertility. Additionally, girls may experience symptoms of masculinization and abnormal menstruation. Patients beneft from taking hormone replacement medications, which work to increase levels of defcient hormones The Counsyl Family Prep Screen - Disease Reference Book Page 7 of 287 and suppress the overproduction of male hormones. A multidisciplinary team of physicians, including an endocrinologist, will need to monitor the medication dosage, medication side efects, growth, and sexual development of patients who continue to receive treatment. Newborn females with ambiguous genitalia may need surgery to correct the function and appearance of the external genitalia. Surgery, if needed, is most often performed during infancy, but can be performed later in life. Treatments provided during pregnancy may reduce the degree of virilization in female fetuses. However, because the long term safety of prenatal treatment is unknown, these therapies are considered experimental and are not recommended by professional guidelines. What is the prognosis for a person with 21-Hydroxylase-Defcient Congenital Adrenal Hyperplasia? Early death can occur during periods of signifcant sodium loss (salt crises) if medication dosage is not adequately adjusted, especially during times of illness or trauma. Problems with growth and development, infertility, ambiguous genitalia, and virilization are monitored by physicians on an ongoing basis. Detection Population Rate* <10% African American 90% Ashkenazi Jewish <10% Eastern Asia 43% 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. When blood sugar drops to dangerously low levels, seizures and permanent brain damage may occur. These newborns are typically born larger than normal and may show difculty feeding, poor muscle tone, and breathing problems. The low blood sugar associated with the condition can also range from mild to severe depending on the individual, and varies even among members of the same family. It is particularly common among people of Finnish and Saudi Arabian descent, where the disease may afect as many as 1 in 2,500. Babies may need frequent feedings with large amounts of carbohydrates, even overnight. A feeding tube may be helpful to ensure that a child gets sufcient quantities of carbohydrates and may facilitate automatic feedings overnight. When diet and medication do not sufciently manage blood sugar levels, the person may require surgery to remove part of the pancreas. Even with treatment, people with the disease can develop some degree of brain damage or have learning difculties. In the most serious cases, when the disease is not recognized and properly treated, it can be fatal. The Counsyl Family Prep Screen - Disease Reference Book Page 11 of 287 Achromatopsia Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* 62% African American 62% Ashkenazi Jewish 62% Eastern Asia 62% Finland 62% French Canadian or Cajun 62% Hispanic 62% Middle East 62% Native American 62% Northwestern Europe 62% Oceania 62% South Asia 62% Southeast Asia 62% Southern Europe * Detection rates shown are for genotyping. Achromatopsia is an inherited disease that causes reduced visual acuity, an inability to see well in bright light, and the inability to see color. Cone cells function best in bright light and allow us to perceive color and fne detail. Rod cells, on the other hand, function best in low light and are responsible for our night vision. In people with achromatopsia, cone cells do not function properly, leaving only rod cells. Because rod cells do not function well in bright light, as the amount of light increases, visual ability in people with achromatopsia decreases. People with achromatopsia will also be colorblind and will not perceive detail well. Most people with the disease have “complete achromatopsia,” meaning that none of their cone cells are functioning. The Counsyl Family Prep Screen - Disease Reference Book Page 12 of 287 Some people with the disease have some functioning cone cells, leaving them with “incomplete achromatopsia. People with achromatopsia often experience a vibration or rapid oscillation in their feld of vision, a symptom known as pendular nystagmus. Symptoms of achromatopsia do not worsen over time and do not typically lead to blindness. It is most common on the remote atoll of Pingelap in Pohnpei, part of the Federated States of Micronesia in the Western Pacifc. There is no cure for achromatopsia, but people with the disease have found ways to adapt. Many people with achromatopsia have found that dark brown, red, or gray-tinted glasses help them see outdoors during the day or in bright indoor spaces. Parents of children with the disease should work with their child’s school to make any necessary modifcations to his or her learning environment. Achromatopsia does not afect lifespan, nor does it afect any other system of the body. While the person will have poor eyesight, particularly in bright light, the disease is not progressive and will not lead to blindness. The Counsyl Family Prep Screen - Disease Reference Book Page 13 of 287 Alkaptonuria Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* <10% African American 80% Ashkenazi Jewish <10% Eastern Asia 80% Finland 80% French Canadian or Cajun <10% Hispanic <10% Middle East <10% Native American 80% Northwestern Europe <10% Oceania <10% South Asia <10% Southeast Asia 80% Southern Europe * Detection rates shown are for genotyping. This accumulation causes alkaptonuria’s more visible symptoms, which include a brownish-black coloration to the urine when it mixes with air and a darkening of the body’s connective tissues after the age of 30. A minority of patients do not have discolored urine, and for them arthritis may be the frst noticeable sign of the disease. In one large study of people with alkaptonuria, roughly half reported lower back pain in their 30s, and 94% reported the symptom by age 40. Hips, knees, and shoulders are frequently afected by alkaptonuria, though smaller joints are not. Studies indicate half of people with alkaptonuria require at least one joint replacement by the age of 55. The Counsyl Family Prep Screen - Disease Reference Book Page 14 of 287 By the mid-60s, half of patients with alkaptonuria will have experienced kidney stones. In their 60s, people with the disease frequently experience a hardening, thickening, and/or narrowing of the heart’s aortic or mitral valve.

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J Invest Dermatol 97:259 cheap 1000 mg carafate with mastercard, Imamura S purchase carafate cheap, Yanase K carafate 1000 mg low cost, Taniguchi S, et al: Erythema mul- 1991. Pediatr Dermatol 8:288, zation of basement membrane components in mucous mem- 1991. Acta Kawasaki T, Kosaki F, Okawa S, et al: A new infantile acute Derm Venereol (Stockh) 64:70, 1984. J Am Kazmierowski J, Wuepper K: Erythema multiforme: Immune Acad Dermatol 23:1275,1990. Laskaris G, Sklavounou A: Warty dyskeratoma of the oral Prost C, Colonna De Leca A, Combemale P, et al: Diagnosis mucosa. Cicatricial pemphigoid in a 6-year-old child: Report of a case Laskaris G, Triantafyllou A, Economopoulou P: Gingival and review of the literature. Ophthalmolog- between linear IgA disease and benign mucous membrane ica1183:122, 1981. Oral Surg Kostmann R: Infantile genetic agranulocytosis: A review with 76:453,1993. J Oral Pathol Logothetis J, Economidou J, Costantoulakis M, et al: Med 21:326, 1992. Oral Surg 23:573, cleidocranial dysplasia: A rare combination of genetic ab- 1967. Oral Kerem B, et al: Identification of the cystic fibrosis gene: Surg 62:524, 1986. Nutritional Disorders Occurence and oral involvement in six adolescent and adult Afonsky D: Stomatitis in nutritional deficiences. Int J Oral Bovopoulou O, Sklavounou A, Laskaris G: Loss of intercellu- Surg 3:256, 1974. Anatomy, pathophysiology and clinical miologic and histologic study of oral cancer and leukoplakia description. Diagnostic procedure and comprehen- microscopic study of epithelial surface patterns. Silverman S Jr, Gorsky M, Lozada F: Oral Leukoplakia and malignant transformation: A follow-up study of 257 pa- tients. Chierci G, Silverman S Jr, Forsythe B: A tumor registry study Surgery 23:670,1948. Acta Derm Venereol [Suppl] (Stockh) low-grade adenocarcinoma of minor salivary glands: A 85:77,1979. Proc Hirshberg A, Leibovich P, Buchner A: Metastases to the oral Finn Dent Soc 71:58, 1975. Oral of mucous membranes: A clinicopathologic study of 13 cases Surg 71:708, 1991. Oral Surg 58:413, Triantafyllou A, Laskaris G: Clear cell adenocarcinoma of the 1984. Am J nant fibrous histiocytoma, myxoid variant metastatic to the Patho132:83, 1956. Laskaris G, Papavasiliou S, Bovopoulou O, Nicolis G: Associ- Am J Roentgenol Radium Ther Nucl Med 123:471, 1975. Laskaris G, Triantafyllou A, Bazopoulou E: Solitary plas- macytoma of oral soft tissues: Report of a case and review of literature. Oral Surg topathologic features of a series of 464 oral squamous cell 41:441, 1976. Tirelli U, Carbone A, Monfardini S, et al: Malignant tumors in Oral Surg 45:246,1978. Papanicolaou S, Pierrakou E, Patsakas A: Intraoral blue Lesions with and without naevus sebaceous and basal cell nevus. Am J Surg Ide F, Umemura S: A microscopic focus of traumatic neuroma Pathol 15:233, 1991. Kakarantza-Angelopouuou E, Nicolatou O, Anagnostopoulou Rapidis A, Triantafyllou A: Myxoma of the oral soft tissue. S: Verruciform xanthoma of the palate: Case report with J Oral Maxillofac Surg 41:188,1983. Mat Med Seifert G, Miehlke A, Haubrich J, Chilla R: Diseases of the Greca 8:226, 1980. Odontostomatol Progr osteoma of the jaw: Report of case and review of the 24:195,1970. Georg Thieme, Triantafyllou A, Laskaris G: Papillary syringadenoma of the Stuttgart, 1959. Pathology-diagnosis-treatment-facial Triantafyllou A, Sklavounou A, Laskaris G: Benign fibrous surgery. Tumorlike Lesions oral salivary glands: A demographic and histologic study of 426 cases. Clinicopathologic study of 224 new cases relationship of its pathogenesis to its clinical characteristics. Am J Surg Pathol 5:37, sialometaplasia of palatal minor salivary glands: A report on 1981. Immunohistochemical and ultrastructural observa- normal human submandibular and parotid salivary glands. These diseases are a leading cause of morbidity and mortality around the world and remain an enigma to many. The new threat of bioterrorism has become a significant security concern of all nations. The text was initially written in the early 20th century, as a pamphlet for New England health officials, by Dr. In 1917, it was published in Public Health Reports (32:41:1706–1733), by the United States Public Health Service. Its 30 pages contained disease control measures for the 38 communicable diseases that were then reportable in the United States. This manual is now the classic by which all other infectious disease manuals are measured. Even the last word in the title was changed from “Man” to “Manual” to remove the perception of gender bias. Translations into several languages—currently Bahasa Indonesia, Italian, Korean, Portu- guese, Serbian, and Spanish—have made this text a global treasure. It covers over 140 diseases and groups of diseases of importance to communicable disease hunters and researchers. Heymann and his team at the World Health Organization have assembled an impressive group of experts from around the world to serve as reviewers, authors, and editors. They have completed the transforma- tion of this text into a resource responsive to the needs of the global health xviii community. I also want to thank the many men and women who work silently behind the scenes and on occasion have given their lives to contain the threat of infectious disease. The microbial agents that cause them are dynamic, resilient, and well adapted to exploit opportunities for change and spread. Their public health significance in terms of human suffering, deaths, and disability is compounded by the considerable toll they take on economic growth and development.

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In people with one mutation for factor V Leiden thrombophilia (and one normal copy of the gene discount carafate 1000 mg on line, making them a carrier) carafate 1000mg line, that risk increases to between 4 and 8 in 1 discount carafate 1000 mg fast delivery,000. This is comparable to the 3 to 6 fold increased risk of blood clots when taking an estrogen-containing birth control pill, which every obstetrician is already required to inform women about prior to taking the pill. In people with two mutations causing factor V Leiden thrombophilia, the risk increases substantially to between 18 and 80 in 1,000. Certain factors increase the risk of blood clots in people with factor V Leiden thrombophilia. These can include smoking, advanced age, obesity, oral contraceptives, hormone replacement therapy, air travel, pregnancy, organ transplantation, surgery, cancer, and the presence of other genetic blood clotting disorders. Children with factor V Leiden thrombophilia rarely develop abnormal The Counsyl Family Prep Screen - Disease Reference Book Page 81 of 287 blood clots. Pregnant women who have two genetic mutations that cause factor V Leiden thrombophilia are at an increased risk for certain complications including miscarriage, high blood pressure (preeclampsia), delayed physical development of the fetus, and a separation of the placenta from the uterine wall. Their risk of losing a pregnancy is 2 to 3 times greater than the general population. Please note however that most women with the disease will have normal pregnancies. Having one copy of the mutation that causes factor V Leiden thrombophilia (and one normal copy of the gene) is fairly common in the United States and Europe. For people with recurrent abnormal clots, long-term use of preventive medication may be recommended. For people with two factor V Leiden thrombophilia mutations who do not have a history of clotting, long-term use of medication may be recommended, although it may lead to a higher risk for excessive bleeding. People with only one copy of the factor V Leiden thrombophilia mutation (and one normal gene) typically do not use any preventive medications, as the risks for excessive bleeding are seen to outweigh the anti-clotting benefts. During short periods of higher risk, such as surgery, trauma, or pregnancy, medication may be prescribed. When clots are discovered, they are often treated with medication according to normal medical protocols. Women with deep vein thrombosis may be asked to wear compression stockings for a period of time following the clot. People with factor V Leiden thrombophilia may want to avoid smoking, oral contraceptives, hormone replacement therapy, and obesity. The Counsyl Family Prep Screen - Disease Reference Book Page 82 of 287 What is the prognosis for a person with Factor V Leiden Thrombophilia? People with two mutations for factor V Leiden thrombophilia are at an 18 to 80 times greater risk than the general population for life-threatening blood clots. That said, the majority of people with the condition do not experience life- threatening blood clots and will live normal lifespans. Studies have shown that people with only one mutation for factor V Leiden thrombophilia have a normal lifespan. Detection Population Rate* <10% African American 97% 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. Bleeding can be a particular problem after tooth extraction, dental surgery, tonsil surgery, or urinary tract surgery. More than half of women with the disease have abnormally heavy and prolonged menstrual periods. The Counsyl Family Prep Screen - Disease Reference Book Page 84 of 287 Bleeding problems can occur, however, when levels are as high as 70% of the normal level. The severity of the bleeding varies widely from person to person, even among members of the same family. Studies have suggested that 20 to 50% of carriers of the disease show "excessive bleeding," although the defnition of this phrase varies. The disease is also common among families in northwest England, where 1 in 10,000 people has the disease. In the case of bleeding in the mouth, nose, intestines, or uterus, there are several medications which may be helpful, though they are not efective for major internal bleeding and can cause clotting throughout the body. In people who do not realize they have the disease, life-threatening bleeding is possible following surgery or injury. The Counsyl Family Prep Screen - Disease Reference Book Page 86 of 287 Familial Dysautonomia Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* <10% African American >99% 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. Familial dysautonomia is an inherited condition that causes nerve cells to deteriorate. It afects the autonomic nervous system, which controls involuntary actions such as breathing, tear production, blood pressure, and body temperature. It also afects the sensory nervous system, which controls senses such as the abilities to perceive taste, pressure, pain, and temperature. Early symptoms in infants include feeding problems, poor growth, lack of tears, poor muscle tone, frequent lung infections, and marked fuctuations in body temperature. Until about age 6, children with the condition may also hold their breath for long periods of time, which may cause fainting or make their lips or skin appear blue. Starting around age 5 or 6, children with the condition may develop symptoms including bed-wetting, vomiting, reduced sensitivity to temperatures and pain, decreased ability to taste, poor balance, abnormal curvature of the spine, easily fractured bones, and kidney and heart problems. They commonly experience a sharp drop in blood pressure when they stand up, which can cause blurred The Counsyl Family Prep Screen - Disease Reference Book Page 87 of 287 vision, dizziness, or fainting. By adulthood, people with familial dysautonomia may have balance problems that prevent them from walking unaided. Other common complications include sleep apnea, lung damage due to repeated infections, poor vision as optic nerves atrophy, and kidney disease. Familial dysautonomia is found almost exclusively in people of Ashkenazi Jewish descent, where it afects approximately 1 in 3,700 people. Infants with the condition may need to be fed thickened formula to ensure adequate nutrition and prevent them from inhaling their food. Recurrent pneumonia caused by inhaling food or vomit requires daily chest physiotherapy. Older children who experience low blood pressure may require elastic stockings and leg exercises to improve muscle tone and prevent blood from pooling in leg veins. Corneal injuries caused by low tear production may be treated with regular eye drops, soft contact lenses, or in rare cases, surgery. The average lifespan of a person with familial dysautonomia is signifcantly shortened. The Counsyl Family Prep Screen - Disease Reference Book Page 88 of 287 Familial Mediterranean Fever Available Methodologies: targeted genotyping and sequencing. Detection Population Rate* <10% African American 75% Ashkenazi Jewish <10% Eastern Asia <10% Finland <10% French Canadian or Cajun <10% Hispanic 96% 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. This symptom is most common among people of Turkish and North African Jewish heritage, afecting 60% and 75% respectively. Afected people may also develop an infammation of the membrane that surrounds the brain and spinal cord, though this is not usually serious or damaging. These may include a mild, unpleasant sensation in parts of the body that will soon be afected or may consist of other physical and emotional symptoms.

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Infants have a greater percentage of head and neck surface area (18%) and a smaller leg surface area (9%) than adults order carafate 1000 mg with mastercard. Children generic carafate 1000 mg line, compared to adults purchase carafate 1000 mg with mastercard, incur greater fluid losses as they have a higher ratio of surface to body area. First 8 hrs from time of burns = ½ total calculated fluid Next 8 hrs = ¼ total calculated fluid Next 8 hrs = ¼ total calculated fluid e. Nurse exposed but use cradle • Hands, feet use moist plastic bags − as after antiseptic cream. Special Burns • Circumferential burns; if this leads to compartment syndrome, escharotomy must be done • Inhalational burns; should be suspected if there are burned lips, burned nostrils especially in cases of open fires and smoke, give humidified air and oxygen, bronchodilators and appropriate antibiotics, intubation may be necessary. Skin grafting shortens the duration of hospital stay and should be done early when necessary. Disaster Plan A major disaster is a situation where the number, type and severity of casualties require extraordinary arrangement by the hospital to cope with. These include road accidents, train accidents, airline, boat, terry accidents, factory fires and bomb blasts. Requirements • Disaster team headed by a Team Leader 16 • Emergency equipment and drugs • Transport • Communication equipment. Pre−Hospital Organisation Important activities: • Crowd control • Security and safety for the team and victims • Primary assessment of the casualties − Triage starts here. Hospital Organisation The key to success of management of major disaster is command and control. Establish an effective control centre stalled by Senior Medical, Nursing and administrative coordinators with appropriate support staff. They then: • Liaise with the ambulance service about the details and status of the incident • Nominate the medical incident officer and dispatch him or her to the scene, if appropriate • Start to prepare the accident and emergency department for the reception of casualties • Warn theatres, the intensive care unit, pharmacy, laboratory, x−ray, and outpatients about the possible disruption of activities. Head Injury • Admit for hourly neurological observations if: − Depressed conscious level − Skull fracture − Focal neurological signs 19 • Hourly neurological observations should be recorded and should include: − Glasgow Coma Scale − blood pressure, pulse, and respiratory rate − pupil size and reaction − limb movements (normal mild weakness, severe weakness, spastic flexion, extension, no response) − peripheral deep tendon reflexes • If there are signs of an intracranial haematoma developing (declining conscious level, pupil signs), cross−match and arrange for Burr holes to be done as an emergency • Compound skull fracture Do thorough wound toilet and haemostasis as an emergency. Neuro observations done less often than hourly are of no use Glasgow Coma Score Eye Opening (E) Best Motor Response (M) • Spontaneous 4 • Obeys 6 • To voice 3 • Localizes pain 5 • To pain 2 • Flexion withdrawal 4 • Nil 1 • Flexion abnormal 3 • Extension 2 • Nil 1 Best Verbal Response (V) • Oriented, converses 5 • Converses, but confused 4 • Inappropriate words 3 • Incomprehensible sounds 2 • Nil 1 Score = E+M+V(the higher the score the better the prognosis) Note: Trend is more important than present level of consciousness Fork jembe injuries are almost always penetrating, no matter how small the skin wound seems: Always explore 20 1. Multiple Injury Patient This is a situation where the patient is injured in more than two systems of the body. This occurs in road traffic accidents, falls from a height, in blast injuries etc. The approach to a patient with multiple injuries has to be systematic in order to identify all the injuries and prioritise on their attention. Resuscitation takes priority and in this order A − Airway Position the head and with linger or suction, clear blood, mucus and foreign bodies B − Breathing Respirator. Monitor pulse rate, blood pressure and fix a large intravenous cannula preferably in the antecubital area. Exceptions are in the chest and cervical spine which should be taken after initial resuscitation. Acute gastric distension − managed by nasogastric tube and suction of the same; The patient will require feeding to counter the catabolism associated with multiple injuries; some of the injuries may require referral for more specialised care. Causes include: Spontaneous in children following staphylococcal pneumonia and in older patients with chronic obstructive pulmonary disease. Trauma blunt trauma with rib fractures and or lung contusion, penetrating injuries; stab wounds and missiles. Clinical Features Depend on the magnitude of the problem, could cause hypovolaemic shock if massive. Management • Small haemothorax will resolve spontaneously • Large haemothorax will require intercostal underwater seal drainage • Large clotted haemothorax may require thoracostomy and drainage to untether the lung that remains collapsed • Fracture of rib − inject 2% lidocaine about 2−5 mls at fracture site. The urinary output is an indicator of renal blood flow, and will significantly fall. Management • Once shock is suspected, the medical staff on the patient should swing into co−ordinated action and treatment to the patient intensified • Treat the primary problem e. Later interstitial activated charcoal 4 hourly until pulmonary oedema and fibrosis patient improves. Lungs: supportive care Opiates/narcotics Drowsiness, pin−point pupils, shallow • Do not give emetics respiration, spasticity, respiratory failure • Gastric lavage, • Activated charcoal • Naloxone 5? Investigations • Hb, Wbc, Platelets • Urea & electrolytes, creatinine • Blood sugar • C&S (blood and body fluids). Management − General • Resuscitate with normal saline or dextran 70 − large volumes may be required but watch for heart failure. Oral metronidazole can be started as soon as patient is able to swallow • Specific antibiotics depend on source of infection and C&S results. Tracheostomy An artificial opening into the trachea through the neck in order to by pass an obstruction of the airway and/or to provide access to the lower airway facilitating ventilatory support. Elective tracheostomy (ventilation likely to continue for more than two weeks); surgery for tumours of head and neck, major reconstructive facial surgery, prolonged ventilatory support surgery e. Management • In case of complete acute upper respiratory tract obstruction give oxygen through a big bore needle or a canula inserted through cricothyroid membrane (Cricothyrotomy). Insert a big bore needle or canula to the trachea (with or without local anaesthetic depending on circumstances). Position patient supine with neck extended over a pillow and head stabilised in tracheostomy position. Blunt dissection then expose the anterior jugular vein, infrahyoid muscles and occasionally thyroid isthmus (which should be ligated and divided). A cruciate incision or a circular window is then made through the third and fourth tracheal rings. Humidification of the gases/air and frequent suction through the tube must be done. When a clear passageway has been established and ventilation restored then refer the patient. These vary from asymptomatic carrier states to severe debilitating and fatal disorders related to defective cell−mediated immunity. Transmission requires contact with body fluids containing infected cells or plasma. Studies show that between 23% and 42% of babies born in developing countries are infected. Prevention of the transmission can be further reduced through the use of antiretroviral drugs. Precautions include: • Decontaminating surfaces which have been soiled by blood or other body fluids with sodium hypochlorite 0. Jik) • Soaking instruments in glutaraldehyde solution • Washing of hands and other contaminated parts of the body with soap and water • Using gloves for all direct contact with blood and other body fluids • Soaking in bleach (e.

J. Ugolf. Gordon College. 2019.