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The doctor will want to know what happened immediately before the patient lost consciousness order 60 mg dapoxetine mastercard erectile dysfunction medicine pakistan, and how quickly he lost consciousness dapoxetine 30mg free shipping erectile dysfunction rings. The doctor will want to know if the patient is taking any med- ications, including: sedatives, tranquilizers, insulin, opiates. The doctor will do a physical examination including the follow- ing: blood pressure, breathing rate, pulse, temperature, thorough eye exam, checking the neck for stiffness, listening to the chest with a stethoscope, skin exam, checking extremities for swelling, thorough check of the reflexes and movement. CAUSE WHAT IS IT YPICAL SYMPTOMS Blackouts (See Temporarily losing Blacking out after standing, chapter on consciousness or vision, exercise, stress, or a partic- Blackouts. Menstrual Cramps What it feels like: waves of pain and aching in the lower back, abdomen, and thighs that disappear when you begin menstruating each month. Your Doctor Visit What your doctor will ask you about: depression, anxiety, irritabil- ity, decreased interest in usual activities, difficulty concentrating, lethargy, change in appetite, change in sleep patterns, breast tender- ness, bloating, weight gain. The doctor will also want to know if you have ever had an ultrasound of the vagina or a biopsy of your cervix, and what those examinations showed, or if you have taken non- steroidal anti-inflammatory medications such as ibuprofen, or if you have taken soy or other herbal remedies. Your doctor will do a physical examination including a thorough rectal and pelvic exam. TYPE WHAT IS IT YPICAL SYMPTOMS Dysmenorrhea Painful menstrual periods Several days of pain in the lower back, abdomen, and thighs, pain disappears when menstruation begins Premenstrual A more severe form of To have premenstrual dys- dysphoric what is commonly phoric syndrome, you must syndrome known as premenstrual have at least five of the fol- syndrome (PMS) lowing symptoms: depres- sion, anxiety, irritability, decreased interest in usual activities, difficulty con- centrating, fatigue and weakness, changes in appetite, changes in sleep- ing patterns, breast tender- ness, bloating, or weight gain Endometriosis Overgrowth of tissue Constant pain, increasing from the uterus in severity until menstrual flow becomes light Mental Delays (Child) What it feels like: the child does not exhibit mental skills seen in children of similar ages; also known as mental retardation. What can make it worse: asking the child to look at or listen to something, emotional upset. Not every healthy child develops at the same pace, and it is difficult to determine if a child is mentally developing normally during the first few months of life. Most children who initially appear to be “slow starters” eventually catch up to their peers. Your Doctor Visit What your doctor will ask about the child: abnormal hearing, trouble seeing, difficult behavior, convulsions, disturbances in sensa- tion or movement, results of tests of reading, vision, and hearing. Your doctor will want to know when the child first began to appear “delayed,” and the nature of the delays. Multiple types of delays in one child may be the result of environmental problems, such as child abuse, neg- lect, or changes in school. Certain diseases can also produce multiple delays, including muscle disease, poor vision, and nerv- ous system disease. Your Doctor Visit What your doctor will ask you about: growths in the mouth, foul- smelling breath, sore or bleeding gums, recent skin abnormalities, common cold, difficulty talking, difficulty swallowing, sounds heard while breathing, excessive alcohol drinking, toothache, facial pain, salivation problems, fever, unpleasant taste. Your doctor will want to know if you or anyone in your family has had any of these conditions: diabetes, syphilis, alcoholism, human immunodeficiency virus (HIV). Your doctor will want to know if you smoke, wear dentures, brush and floss your teeth regularly, and if you have recently come in contact with a person who has strep throat. Your doctor will do a physical examination including the fol- lowing: temperature, mouth exam, throat exam, checking lymph nodes for swelling. INFECTIONS OF THE MOUTH, THROAT, LIPS, AND GUMS CAUSE WHAT IS IT YPICAL SYMPTOMS Pharyngitis Sore throat, caused by a Recent contact with another viral or bacterial person with a sore throat, infection malaise, earache, runny nose, fever Canker sore Painful ulcer in the Painful sore, sometimes mouth or on the lips fever and swollen lymph nodes Candidiasis Yeast infection that White, creamy lesions in occurs more commonly the mouth, soreness, in diabetics, infants, bleeding gums, unpleasant people with HIV, and taste those taking antibiotics or steroids “Trench mouth” Progressive mouth History of poor oral disease hygiene, foul-smelling breath, bleeding gums Mononucleosis Viral infection known Sore throat, fatigue, as “mono” swollen lymph nodes in the neck Herpangina Disease marked by Sudden sore throat, fever, sudden sore throat occurs more commonly in children Gingivosto- Inflammation in the Sore mouth, fever, ulcers matitis gums and mouth on the tongue and gums Peritonsillar Collection of pus around Severe pain, trouble talking abscess the tonsils and swallowing, fever, occurs more commonly in children Epiglottitis Inflammation of the Vibrating sound when throat structure that breathing, muffled speak- blocks air passages ing, sore throat, trouble swallowing, drooling, occurs more commonly in children aged 3 to 7 years MOUTH TROUBLE 149 WHAT CAN CAUSE MOUTH TROUBLE, AND WHAT IS TYPICAL FOR EACH CAUSE? If your muscles feel strong but you feel weak, see the chapter on Weakness for more information. If your muscle weakness has occurred suddenly, see the chapter on Numbness, Loss of Movement, and Trouble Talking to make sure you are not experiencing a stroke. Your Doctor Visit What your doctor will ask you about: neck pain, back pain, mus- cle pain, muscle twitching, blurred or double vision, changes in sen- sation or speech, heat intolerance, obesity, abnormal hair growth. Your doctor will want to know if you or anyone in your family has had any of these conditions: chronic disease, alcoholism, dis- ease of the discs in the back, nervous system disease, thyroid disease, muscle weakness. Your doctor will want to know if the weakness occurs all over, or in particular regions of the body, and if it occurs sporadically or has worsened with time. Your doctor will ask you if you have been exposed to insecticides or received a vaccine against polio, and if you feel particularly weak when arising from a chair. Your doctor will do a physical examination including tests of reflexes, movement, and sensation. CAUSE WHAT IS IT YPICAL SYMPTOMS Muscular Hereditary disease char- Progressive weakness, diffi- dystrophy acterized by progressive culty getting up from a muscle wasting chair, family history of dystrophy Myositis Infection that causes pain Weakness, pain, or weakness in muscles tenderness Disuse atrophy Wasting of muscles after Occurs in people with dis- long disuse, perhaps abling illness, such as following disease stroke or arthritis Drug use Weakness caused by Occurs in people taking certain medications steroids, statins, and diuret- ics (“water pills”), and in heavy alcohol drinkers Endocrine Disease affecting the Heat intolerance, weight disease hormones gain in the abdomen, abnormal hair growth Insecticide Ingesting a toxic amount Double vision, weakness poisoning of insecticides of speech, weakness wors- ens at the end of the day, fatigue after exercise Peripheral Disease of the nerves in Weakness occurs in one neuropathy the extremities that body region, change in occurs more commonly sensation in people who drink heavily or have diabetes Nervous system Abnormalities in the Regional weakness, disease brain or spinal cord abnormal sensation Guillain-Barré Disease characterized by Weakness and paralysis syndrome inflammation in the that begins in the legs, may nerves progress rapidly Poliomyelitis Disease caused by the Fever, rapid onset of wide- polio virus that can lead spread weakness, no history to paralysis of immunization against the virus MUSCLE WEAKNESS 153 WHAT CAN CAUSE MUSCLE WEAKNESS, AND WHAT IS TYPICAL FOR EACH CAUSE?

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Other abnormalities encountered in children with cardiofacio- Autosomal dominant—A pattern of genetic inher- cutaneous syndrome include seizures dapoxetine 30mg erectile dysfunction causes agent orange, abnormal move- itance where only one abnormal gene is needed to ments of the eye buy generic dapoxetine 60 mg online erectile dysfunction treatment calgary, poor muscle tone, and poor digestion. The diagnosis of cardiofaciocutaneous syndrome Noonan syndrome—A genetic syndrome that pos- relies on physical exam by a physician familiar with the sesses some characteristics similar to cardiofacio- condition and by radiographic evaluation, such as the use cutanous syndrome. It is unclear whether the two of x rays or ultrasound to define abnormal or missing syndromes are different or two manifestations of structures that are consistent with the criteria for the con- the same disorder. Although a diagnosis may be made as a newborn, most often the features do not Sporadic—Isolated or appearing occasionally with become fully evident until early childhood. There is no laboratory blood test or commercially available genetic test that can be used to identify people with cardiofaciocutaneous syndrome. However, scientists estimate that less the condition is so rare, advanced genetic analysis may be than 200 children worldwide are presently affected by available as part of a research study to determine if this condition. Because the syndrome is so rare, it is not known Cardiofaciocutaneous syndrome can be differenti- whether the disease is distributed equally among differ- ated from Noonan syndrome by the presence of nervous ent geographic areas or whether different ethnic groups system abnormalities, such as low muscle tone, seizures, have higher incidences of the syndrome. Signs and symptoms Treatment and management Individuals with cardiofaciocutaneous syndrome have distinct malformations of the head and face. A short, current time, there is no means of correcting this genetic upturned nose with a low nasal bridge and prominent abnormality. In most cases, affected individ- correcting the different manifestations of the condition. This may take place shortly after birth if the the eyes, and other eye abnormalities. In addition to hav- heart abnormality is life threatening, but often physicians ing unusually dry, brittle, curly scalp hair, affected indi- will prefer to attempt a repair once the child has grown viduals may lack eyebrows and eyelashes. For children who Individuals with cardiofaciocutaneous syndrome experience seizures, lifelong treatment with anti-seizure may also have a range of skin abnormalities, varying from medications is often necessary. Oral or topical medica- areas of skin inflammation to unusually dry, thickened, tions may also be used to treat the inflammatory skin scaly skin over the entire body. Most affected individuals conditions and provide some symptomatic and cosmetic also have congenital heart defects, particularly obstruc- relief. This rience growth delays, mild to severe mental retardation, program is usually initiated and overseen by a team of 200 GALE ENCYCLOPEDIA OF GENETIC DISORDERS health care professionals including a pediatrician, physi- WEBSITES cal therapist, and occupational therapist. National Center for Biotechnology dren is often helpful is assessing problem areas and Information. Support groups and community organizations for people with cardiofaciocutaneous syndrome or other disabilities Oren Traub, MD, PhD often prove useful to the affected individual and their families. Children with cardiofaciocutaneous syndrome should be seen regularly by a team of health care profes- ICarnitine palmitoyltransferase sionals, including a pediatrician, medical geneticist, pedi- deficiency atric cardiologist, dermatologist, and neurologist. Consultation with a reconstructive surgeon may be of use Definition if some of the physical abnormalities are particularly Carnitine palmitoyltransferase (CPT) deficiency debilitating. CPT-I Prognosis deficiency affects lipid metabolism in the liver, with seri- ous physical symptoms including coma and seizures. The prognosis of children with cardiofaciocutaneous Two types of CPT-II deficiency are similar in age of onset syndrome depends on the severity of the symptoms and and type of symptoms to CPT-I deficiency. Preventive measures and treatments are available relatively recently, very little is known regarding the level for CPT-I deficiency, and the muscle form of CPT-II of functioning and the average life span of individuals deficiency. Resources Description BOOKS Carnitine palmitoyltransferase (CPT) is an important Behrman, R. CPT speeds up the transport of long-chain fatty PERIODICALS acids across the inner mitochondria membrane. PO Box Understanding the symptoms of CPT requires some 8923, New Fairfield, CT 06812-8923. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 201 Long-chain fatty acids (LCFAs) are the most abundant nents. Myoglobin is filtered from the blood by the kid- type, and have at least 12 carbon atoms. Both are converted into energy (oxidized) inside Severe and/or repeated episodes of rhabdomyolysis and mitochondria, structures within each cell where numer- myoglobinuria can cause serious kidney damage. Genetic profile A single mitochondrion is enclosed by a double- CPT-I deficiency is caused by defects in the CPT1 layer membrane.

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This is so unusual that one can usually assume that a scrotal hernia is an indirect hernia purchase 30 mg dapoxetine erectile dysfunction lyrics. The only certain way of determining the issue is at operation; the infe- rior epigastric vessels demarcate the medial edge of the internal ring buy dapoxetine 30 mg on line erectile dysfunction 10, there- fore an indirect hernia sac will pass lateral and a direct hernia medial to these vessels. Quite often both a direct and an indirect hernia coexist; they bulge through on each side of the inferior epigastric vessels like the legs of a pair of pantaloons. Peritoneal cavity The endothelial lining of the primitive coelomic cavity of the embryo becomes the thoracic pleura and the abdominal peritoneum. Each is invagi- nated by ingrowing viscera which thus come to be covered by a serous membrane and to be packed snugly into a serous-lined cavity, the visceral and parietal layer respectively. In the male, the peritoneal cavity is completely closed, but in the female it is perforated by the openings of the uterine tubes which constitute a pos- sible pathway of infection from the exterior. To revise the complicated attachments of the peritoneum, it is best to start at one point and trace this membrane in an imaginary round-trip of the abdominal cavity, aided by Figs 47 and 48. At this level the membrane is smooth apart from the shallow ridges formed by the median umbilical fold (the obliterated fetal urachus passing from the bladder to the umbilicus), the medial umbilical folds (the obliterated umbilical arteries passing to the umbilicus from the internal iliac arteries) and the lateral umbilical folds (the peritoneum covering the inferior epigastric vessels). A cicatrix can usually be felt and seen at the posterior aspect of the umbilicus, and from this the falciform ligament sweeps upwards and slightly to the right of the midline to the liver. In the free border of this ligament lies the ligamentum teres (the obliterated fetal left umbilical vein) which passes into the groove between the quadrate lobe and left lobe of the liver. Elsewhere, the peritoneum sweeps over the inferior aspect of the diaphragm, to be reflected on to the liver (leaving a bare area demarcated by the upper and lower coronary ligaments of the liver) and on to the right margin of the abdominal oesophagus. After enclosing the liver (for further details, see page 95), the peritoneum descends from the porta hepatis as a double sheet, the lesser omentum, to the lesser curve of the stomach. Here it again splits to enclose this organ, reforms at its greater curve, then loops downwards, then up again to attach to the length of the transverse colon, forming the apron-like greater omentum. The transverse colon, in turn, is enclosed within this peritoneum which then passes upwards and backwards as the transverse mesocolon to the posterior abdominal wall, where it is attached along the anterior aspect of the pancreas. Peritoneal cavity 67 Falciform ligament Liver Stomach Portal triad (portal vein, hepatic artery Greater sac and common bile duct) Foramen of Winslow Spleen with its lienorenal and gastrosplenic ligaments Lesser sac (a) Stomach Liver Aorta Superior aspect of pancreas with splenic artery Spleen L. At the base of the transverse mesocolon, this double peritoneal sheet divides once again; the upper leaf passes upwards over the posterior abdominal wall to reflect on to the liver (at the bare area), the lower leaf passes over the lower part of the posterior abdominal wall to cover the pelvic viscera and to link up once again with the peritoneum of the anterior wall. This posterior layer is, however, interrupted by its being reflected along an oblique line running from the duodenojejunal flexure, above and to the left, to the ileocaecal junction, below and to the right, to form the mesentery of the small intestine. The mesentery of the small intestine, the lesser and greater omenta and mesocolon all carry the vascular supply and lymph drainage of their con- tained viscera. The right extremity of the sac opens into the main peritoneal cavity via the epiploic foramen or foramen of Winslow (Fig. Clinical features 1Occasionally a loop of intestine passes through the foramen of Winslow into the lesser sac and becomes strangulated by the edges of the foramen. Notice that none of these important boundaries can be incised to release the strangulation; the bowel must be decompressed by a needle to allow its reduction. If the cystic artery is torn during cholecystectomy, haemor- rhage can be controlled by this manoeuvre (named after James Pringle), which then enables the damaged vessel to be identified and secured. Intraperitoneal fossae A number of fossae occur within the peritoneal cavity into which loops of bowel may become caught and strangulated. Those of importance are: 1the lesser sac via the foramen of Winslow, described above; 2paraduodenal fossa—between the duodenojejunal flexure and the inferior mesenteric vessels; 3retrocaecal fossa—in which the appendix frequently lies; 4intersigmoid fossa—formed by the inverted V attachment of the mesosigmoid. One or more of these spaces may become filled with pus (a subphrenic abscess) walled off inferiorly by adhesions. The right and left subphrenic spaces lie between the diaphragm and the liver, separated from each other by the falciform ligament. The right is the pouch of Morison and is bounded by the posterior abdominal wall behind and by the liver above. It communicates anteriorly with the right sub- phrenic space around the anterior margin of the right lobe of the liver and below both open into the general peritoneal cavity from which infection may track, for example, from a perforated appendix or a perforated peptic ulcer. The left subhepatic space is the lesser sac which communicates with the right through the foramen of Winslow. It may fill with fluid as a result of a perforation in the posterior wall of the stomach or from an inflamed or injured pancreas to form a pseudocyst of the pancreas.

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Males are more commonly affected than Phyical therapy plays a major role in maintaining females discount dapoxetine 30 mg without a prescription erectile dysfunction treatment chandigarh, who tend to be diagnosed later partly due to flexibility purchase dapoxetine 90mg with amex erectile dysfunction diabetes reversible, range-of motion, posture, and ultimately milder symptoms. Surgery can improve joint function, as well as minimize associated pain, which may be treated with nonsteroidal anti-inflammatory medications. Other med- Diagnosis ications—sulfasalazine and methotrexate—can provide Diagnostic criteria were established by the European some relief for peripheral arthritis. A ications that paralyze the ciliary muscle of the eye) and clinical diagnosis of AS requires the presence of spinal local steroids are effective at treating anterior uveitis. Avoidance of smoking is encouraged to maintain asymmetric or involving primarily the lower limbs. Vision can be affected in some individuals with anterior uveitis that is not responsive to treatment, • Psoriasis (a scaly skin disease) but this is rare. The rare complication of kidney failure • Urethritis (inflammation of the urethra) can limit life-expectancy, as can respiratory failure that • Cervicitis (inflammation of the cervix) may result from smoking. New will not be identified as having the disease based on this York: Churchill Livingston, 1997, pp. The description has a specificity that is also PERIODICALS approximately 87%, meaning that 87% of the time a per- Benjamin, R. Either the fluid itself or cells from medical and surgical treatment of eye disorders. Cleft palate—A congenital malformation in which Otolaryngologist—Physician who specializes in the there is an abnormal opening in the roof of the care of the ear, nose, and throat and their associated mouth that allows the nasal passages and the mouth structures. Psychologist—An individual who specializes in the Craniofacial—Relating to or involving both the science of the mind. Sleep apnea—Temporary cessation of breathing Dermatologist—A physician that specializes in dis- while sleeping. Speech therapist—Person who specializes in teach- Fontanelle—One of several “soft spots” on the skull ing simple exercises to improve speech. Syndactyly—Webbing or fusion between the fingers Hypoplasia—Incomplete or underdevelopment of a or toes. Anxiety neurosis see Panic disorder Genetic profile Apert syndrome (AS) is an autosomal dominant dis- order, meaning a person only has to inherit one non- working copy of the gene to manifest the condition. In most cases, AS is sporadic, meaning that the parents are IApert syndrome usually unaffected but a fresh mutation or gene change occurring in the egg or sperm was passed onto the Definition affected child. For these families the chance to have Premature closure of the skull bones leading to facial another affected child is very low. An affected parent has distortion with an usually tall skull and fusion of the fin- a 50% chance of passing on the abnormal gene to their gers and toes, known as syndactyly, are the major fea- child, who will then also have Apert syndrome. Another name for this Two unique mutations in the fibroblast growth factor disorder is acrocephalysyndactyly. When parental studies were per- formed, genetic researchers determined that the father A French physician, E. Apert, first reported in 1906 passed on the gene causing AS and was usually older the syndrome that bears his name. No explanation has been found for this malformation, midface hypoplasia (underdevelopment) unusual finding. Intelligence varies After comparing the physical findings with gene from normal to severe mental retardation. This stoppage of breathing while sleep- ing deprives the brain and body of oxygen. Webbing of the feet is a characteristic sign of Apert Excessive sweating is often seen. A skin tion resulted in a much more improved facial appearance specialist or dermatologist can help to control it. The other mutation produced a The height and weight of children with AS is usually more severe form of syndactyly. A small number of children with Apert syndrome will have Demographics a normal level of intelligence while the majority will Apert syndrome has been estimated to occur in one have some degree of mental retardation. Diagnosis During the newborn period most babies will be diag- Signs and symptoms nosed after a geneticist examines them.

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