By I. Onatas. Gustavus Adolphus College, Saint Peter, Minnesota. 2018.
Some mutations change one amino acid out of the 415 amino acids that compose a single neuraminidase mole- Sialidosis type I cule geriforte syrup 100caps with visa herbals for hair growth. Many of the identified mutations are clustered in The symptoms of sialidosis type I do not appear until one region on the surface of the protein generic 100 caps geriforte syrup fast delivery aasha herbals. Infants and children with this result in a sharp reduction in the activity of the enzyme form of neuraminidase deficiency may have a normal 804 GALE ENCYCLOPEDIA OF GENETIC DISORDERS appearance and grow normally until adolescence. At that time, the appearance of red spots in both eyes, known as KEY TERMS cherry-red macules or cherry-red macular spots, may be one of the first symptoms of neuraminidase deficiency. Dysostosis multiplex—A variety of bone and Eventually, color and/or night blindness may develop. Cataracts may occur and vision may deteriorate gradu- Fibroblast—Cells that form connective tissue ally into blindness. Other symptoms of sialidosis type I include Glycoprotein—A protein with at least one carbo- myoclonus. Individuals with this form of neu- raminidase deficiency may have increased deep tendon Homozygote—Having two identical copies of a reflexes and may develop tremors and various other neu- gene or chromosome. There may be a progressive loss of Lipid—Large, complex biomolecule, such as a muscle coordination, called ataxia, and walking and fatty acid, that will not dissolve in water. Lysosome—Membrane-enclosed compartment in The above symptoms also may occur in sialidosis cells, containing many hydrolytic enzymes; where type II. However, in addition to the age of onset, type I large molecules and cellular components are bro- can be distinguished from type II by the absence of skele- ken down. Furthermore, individuals Myoclonus—Twitching or spasms of a muscle or with this form of neuraminidase deficiency have normal an interrelated group of muscles. Sialidosis type II Polysaccharide—Linear or branched macromole- Sialidosis type II has three forms: congenital or cule composed of numerous monosaccharide neonatal, with symptoms present at or before birth; infan- (sugar) units linked by glycosidic bonds. Symptoms of sialidosis type II vary from mild to Sialic acid—N-acetylneuraminic acid, a sugar that severe, but are always more severe than in type I siali- is often at the end of an oligosaccharide on a gly- dosis. Thus, ascites, (called coarse facies), a short trunk with relatively long hepatosplenomegaly, and hernias may develop later. Cherry-red macules, myoclonus, and and strength (hypotonia) and the progressive wasting of other neurological abnormalities, including tremors, muscular tissue. The myoclonus may progress into a The hearing may be affected in sialidosis type II. These children may have mild to Individuals may have difficulty breathing (dyspnea). Cardiac problems may develop and severe congenital Sialidosis type II is characterized by a variety of sialidosis type II apparently can result in severely-dilated skeletal malformations (dysostosis multiplex). Loose bowel movements are common symptoms may include distinctive, coarse facial features with this form of neuraminidase deficiency. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 805 Diagnosis that is diagnostic of lysosomal storage disease. Neuraminidase deficiency may be diagnosed by histo- Neuraminidase activity logical, or microscopic, examination of a number of dif- Typically, neuraminidase deficiency is diagnosed by ferent types of cells that may show this cytosolic measuring the activity of the enzyme in cultures of fibrob- vacuolation. These cells include the Kupffer cells of the last cells that have been grown from cells obtained via a liver, lymphocytes, bone marrow cells, epithelial skin skin biopsy. However, human cells have two other types of neuraminidase, encoded by Sialidosis type II different genes. One of these enzymes is present in the Infants with sialidosis type II often have visual cell membrane and the other is in the cytosol of various symptoms of the disorder at birth, including facial and cells, including leukocytes. Skeletal x rays may be used to cient in sialidosis and their activities can interfere with the diagnose the dysostosis multiplex of this type of neu- measurement of lysosomal neuraminidase. Magnetic resonance imaging Neuraminidase activity usually is measured by test- (MRI) may be used to determine brain atrophy. Hydrolysis by neu- Neuraminidase deficiency may be diagnosed prena- raminidase liberates 4-methylumbelliferone, which is a tally. In at-risk fetuses, cultured fetal cells from the compound with a fluorescence that can be measured amniotic fluid, obtained by amniocentesis, or cultured accurately. Neuraminidase is an unstable enzyme and spe- chorionic villi cells, obtained by chorionic villi sampling cial precautions are needed to test for its activity. The nor- in the early weeks of pregnancy, may be tested for neu- mal range of neuraminidase activity in fibroblasts is raminidase activity. Since carriers of a single mutated 95-653 picomoles per minute per milligram of protein.
Infants and young children require ment discount geriforte syrup 100 caps on-line kan herbals, and psychomotor (coordination) difficulties order 100 caps geriforte syrup visa herbals california. Early newborn screening, careful monitoring, and a A specialized PKU diet can cause abnormal fluctua- life-long strict dietary management can help PKU tions in tyrosine levels throughout the day. WEBSITES Consensus Development Conference on Phenylketonuria Chang, Pi-Nian, Robert M. Mechanical factors such as fibroids KEY TERMS inside the uterus may constrict the lower jaw preventing it from growing. Single gene or chromosomal abnormal- Endoscopy—A slender, tubular optical instrument ities produce syndromes that have Pierre-Robin used as a viewing system for examining an inner sequence. Teratogenic (anything that affects development part of the body and, with an attached instrument, of the embryo) causes include maternal use of alcohol. Multi-factorial inheritance means that the cause is a com- bination of environmental and hereditary factors. Fibroid—A non-cancerous tumor of connective tissue made of elongated, threadlike structures, or fibers, which usually grow slowly and are con- Demographics tained within an irregular shape. Fibroids are firm The incidence of Pierre-Robin sequence is reported in consistency but may become painful if they start to be one out of 8,500 live births. Other reports show that to break down or apply pressure to areas within the range is one out of 2,000 to one out of 50,000 live the body. This wide range is due to different diagnostic are generally left alone unless growing rapidly or criteria and the presence or absence of associated syn- causing other problems. The uterus contains and nour- Signs and symptoms ishes the embryo and fetus from the time the fertil- ized egg is implanted until birth. In Pierre-Robin sequence, the lower jaw of the fetus displaces the tongue backwards into the throat. The tongue located in this abnormal position blocks the the back), glossoptosis (displacement of the tongue into embryonic structures from joining in the midline in order the throat) and obstruction of the airway. The result is a accompanied by a cleft palate (an opening in the roof of cleft palate, which is an opening in the roof of the mouth. The term sequence is used to describe the The size of the cleft palate varies as well as its position. Babies born with Pierre-Robin have difficulty feed- ing and breathing because the tongue—pushed back- Description wards by the lower jaw—obstructs the throat. Feeding and breathing difficulties may be very mild or very Children born with Pierre-Robin sequence are severe. Prenatal ultrasonic examination may show findings Genetic profile to indicate the possibility of Pierre-Robin sequence alert- ing the physician to be prepared at birth for the possibil- Pierre-Robin sequence can occur in association with ity of the baby having breathing and feeding problems. Heredity has not been proven to be a factor in the cause The type of treatment varies according to the sever- of isolated Pierre-Robin sequence. Babies may not sequence found in association with numerous syndromes require any therapy if they have no symptoms of breath- may have a mode of inheritance that is related to the ing difficulties and no feeding difficulties syndrome itself. The mode of inheritance includes single If breathing difficulties are mild, the easiest manage- gene as well as chromosomal abnormalities. This posi- The cause of the abnormal lower jaw in Pierre-Robin tion causes the tongue to fall forward, relieving the syndrome may be mechanical, genetic, teratogenic, or obstruction. A thorough evaluation of these patients must 924 GALE ENCYCLOPEDIA OF GENETIC DISORDERS be conducted, which includes endoscopy of the airways sequence. Close monitoring must be type will achieve near normal jaw size within a few maintained because the prone position may obscure years of birth. If positioning the patient prone fails, a nasopharyn- geal airway may be used but only for a short time. The Resources airway is a tube passed through the nose into the upper airway, which the baby can breath through. Surgical procedures include glossopexy, in which the tongue is sutured to the lower Cohen, N. Glossopexy and tracheotomy are tempo- Otolaryngology–Head and Neck Surgery 118, no.
Symptoms of toxicity from local anesthetics includes twitching cheap geriforte syrup 100 caps line aasha herbals -, restlessness discount geriforte syrup 100 caps free shipping bestlife herbals, drowsiness, light-headedness, and seizures. Use fine-toothed forceps (Adson or Brown-Adson) with gentle pressure to handle skin edges to decrease trauma. The toothed forceps are less traumatic to the skin than other forceps with flat surfaces that may crush the tissue. On the face, simply covering with antibiotic ointment is often used, especially around the eyes or mouth. Finally, keep tetanus and antibacterial prophylaxis in mind, particularly for contami- nated wounds (Table 17–3, page 350). Critical to any suturing technique is making certain that the edges of the wound closely approximate without overlapping or inversion and that there is no tension. Remember “approximation without strangulation” or eversion T A B L E 1 7 – 2 L o c a l A n e s t h e t i c C o m p a r i s o n C h a r t f o r C o m m o n l y U s e d I n j e c t a b l e A g e n t s M a x i m u m D o s e P r o p r i e t a r y V o l u m e i n A g e n t N a m e s O n s e t D u r a t i o n m g / k g 7 0 - k g A d u l t * B u p i v a c a i n e M a r c a i n e, 7 – 3 0 m i n 5 – 7 h 3 7 0 m L o f S e n s o r i c a i n e 0. Source: Based on guidelines from the Centers for Disease Control and reported in MMWR. SURGICAL KNOTS There are two basic knot-tying techniques: the handed tie and the instrument tie. The two- handed tie is easier to learn than the one-handed tie, although one-handed ties may be more useful in certain situations (eg, with deep cavities or where speed is essential). Some pro- 17 grams frown on one-handed tying, especially for physicians early in their careers. Instru- ment ties are more useful for closing skin and for emergency room laceration repair. Figures 17–7, page 355, and 17–8, page 356, show the technique for tying a two-handed square knot. SUTURE REMOVAL The longer that suture material is left in place, the more scarring it will produce. Using a topical antibiotic (Polysporin, others) ointment on the wound is helpful in decreasing suture tract epithelialization. This epithelialization results from crusting around the suture that in- creases suture marks and subsequent scarring. Sutures can be safely removed when a wound has developed sufficient tensile strength. Situations vary greatly, but general guidelines for 17 Suturing Techniques and Wound Care 351 Correct method Unequal distance Skin inversion Skin overlap Excessive tension FIGURE 17–1 Proper method for simple interrupted suturing of a skin wound com- pared with incorrect techniques that result in poor scars from skin overlap, skin inver- sion, or necrosis of the skin edges because of excessive tension. It allows rapid closure, but depends on only two knots for security and may not allow precise approximation of the skin edges. It allows precise approximation of the skin edges with little tension, but may result in more scarring than a simple stitch. Any suture material or skin clips can be removed earlier if they have been reinforced with a deep absorbable suture or with the application of Steri- Strips after the suture is removed. Steri-Strips will stay in place more securely if tincture of benzoin (spray or solution) is applied to the skin and allowed to dry before the Steri-Strips are applied. Cut the suture as close to the skin as possible so that a minimal amount of “dirty su- ture” is dragged through the wound. The use of skin staples is commonplace in the operating room because of the rapidity of closure and the nonreactive nature of the steel staples. These are typically removed 3–5 d after surgery (abdominal incisions) as shown in Figure 17–10. Because these are removed fairly quickly, reinforce the incision with Steri-Strips. When removing skin staples, make sure that the staple is completely reformed (see Figure 17–10) before re- moval to decrease patient discomfort. These are ideal for linear cosmetic closures be- cause they eliminate possible cross-hatching deformities.
In (C) Highly depressed protein anabolic activity in normal accessory sex gland tissues generic geriforte syrup 100caps line aasha herbals, such as the skeletal muscle purchase geriforte syrup 100caps overnight delivery herbs meaning, bone, and kidney prostate, most of the direct androgen effect is due (D) Elevated serum levels of testosterone with sub- to dihydrotestosterone rather than testosterone. In the Leydig cell the rate-limiting step in testosterone is considered the biosynthetic rate- testosterone synthesis is the enzymatic cleavage of limiting step? Skeletal muscle cells use the androgen receptor (B) Cholesterol to bind testosterone that promotes the anabolic ef- (C) Androstenediol fect of this hormone. Finasteride is a 5 -reductase inhibitor, which es- (E) Progesterone sentially makes dihydrotestosterone unavailable to 4. Normal skeletal muscle cells the prostate but does not reduce serum testosterone (A) Typically lack androgen receptors and thus levels. The decreased prostatic levels of dihy- are not affected by high concentrations of testos- drotestosterone frequently result in a size regres- terone sion of the prostate, while the relatively normal (B) Respond more readily to dihydrotestosterone testosterone levels minimize a depressed libido. Upon examination, a 68-year-old married man was self-reported aggressive behaviors in hypogonadal found to have a greatly enlarged prostate. The male sex accessory tis- duction dramatically rises from prepuberal levels sues: structure, androgen action, and physiology. Effects of testosterone replacement in testosterone, from the second to the ﬁfth decade of hypogonadal men. He compounds typically use 100 to 200 times the nor- is a good athlete who would like to get a college mal dose and will cycle or stack multiple anabolic scholarship and thinks that if he can increase his compounds together in an effort to enhance the bi- muscle strength, he will get better and win a schol- ological effect. He knows of some other athletes who are Common endocrine side effects of these com- using anabolic steroids and requests your help. Surveys in- hepatotoxicity, suppression of high-density lipopro- dicate that in the United States 6% of high school tein cholesterol, increased cardiovascular risk, in- athletes, 20% of college athletes, and more than sulin resistance, and decreased thyroid hormone 50% of professional athletes in certain sports use or production. However, it compounds does result in increased muscle mass, is important to educate him about the risk–beneﬁt strength, and endurance. Thomas DRUG LIST GENERIC NAME PAGE GENERIC NAME PAGE Alprostadil 737 Papaverine 738 Apomorphine 737 Phentolamine 738 Calcitonin gene-related peptide 739 Sildenaﬁl 738 Forskolin 739 Testosterone 738 Linsidomine 739 Trazodone 739 Minoxidil 739 Vardeniﬁl 736 Naltrexone 739 Yohimbine 739 Nitroglycerin 739 The term impotence has been used to indicate the The incidence of ED can be as high as 50% in men inability of the male to attain and maintain erection of aged 40 to 70, with the percentage increasing with age. ED can Perhaps a more precise term for ED is that used to sig- be due to vasculogenic, neurogenic, hormonal, and/or nify inability of the man to achieve an erect penis as psychogenic factors. It can also be due to changes in the part of the multifaceted process of male sexual func- nitric acid–cyclic guanosine monophosphate (cGMP) tion. ED is also associated with hypertension, an- In the United States approximately 10 million men tihypertensive therapy, and diabetes mellitus, particu- have ED. While many advances have oc- Several therapeutic agents, especially those that af- curred in the diagnosis and treatment of ED, other fect neurotransmitter activity (both agonist and antago- aspects remain poorly understood by the general popu- nist) are often associated with ED. ED is fre- have been anecdotal, although 25% of ED may be drug- quently assumed to be a physiological event associated related. The mechanism or mechanisms of 735 736 VII DRUGS AFFECTING THE ENDOCRINE SYSTEM 5-Hydroxytryptamine (5-HT), dopamine, and nor- TABLE 64. Still other substances or hormones, such as endorphins, oxytocin, vasopressin, Therapeutic Class Drug or Drug Class adrenocorticotropic hormone (ACTH) and related peptides, and prolactin, appear to participate in the Antihypertensives Thiazide diuretics, -blockers, clonidine, methyldopa complex and coordinated process of penile erection. Antidepressants SSRIs, MAOIs Central nonadrenergic neurons also may inﬂuence male Antipsychotics Phenothiazines, thioxanthenes sexual behavior. Antianxiety agents Benzodiazepines Nitric oxide (NO) released during nonadrenergic, Hormones Estrogens, antiandrogens noncholinergic (NANC) neurotransmission and from Miscellaneous Alcohol, metoclopramide, opioids the vascular endothelium is most likely the major neu- SSRI, selective serotonin reuptake inhibitor; MAOI, monoamine rotransmitter mediating penile erection. An endothelium-derived relaxing factor (EDRF) in the peripheral vasculature also can induce relaxation of vascular smooth muscles. ED seems to be most frequently associated with release from the endothelial cell relaxes vascular antihypertensive medications, particularly -blockers smooth muscle by activating soluble guanylate cyclase, and thiazide diuretics. Estrogen therapy (see Chapter thereby increasing the production of the intracellular 61) and the use of antiandrogens (see Chapter 63) can messenger cGMP. The role of NO in the physiology of male sexual Paradoxically, selective serotonin reuptake inhibitors function establishes its importance as the principal (SSRIs) can be associated with ED while also being modulator of penile erection. Although other types of phos- phodiesterases are present in the corpus cavernosum, PHYSIOLOGY OF PENILE ERECTION they do not appear to play a signiﬁcant physiological The physiology of penile erection involves an interplay role in erection. Penile erection is the result of exert their pharmacological actions by inhibiting the a complex interaction between the central nervous sys- breakdown of cGMP. Vardeniﬁl (Levitra) is a particularly effective inhibitor The penis is mainly supplied by the internal puden- of PD-5. It has a shorter onset of action and can be used dal artery, and three major sets of veins, superﬁcial, in- in smaller doses than sildenaﬁl.
Toxic reactions occur more frequently the cells that cannot be incorporated into porphyrin to after parenteral iron administration generic geriforte syrup 100 caps fast delivery earthsong herbals. A patient with pancreatic disease complains of difﬁ- (D) No vitamin supplement culty driving at night because of vision problems purchase 100caps geriforte syrup overnight delivery rumi herbals pvt ltd. An epileptic patient who is taking phenytoin and tant to determine whether megaloblastic anemia is lamotrigine to control her seizures is in the ﬁrst from a deﬁciency of folic acid or vitamin B12. Vitamin A deﬁ- tion with vitamins C and E, beta carotene, and zinc ciency symptoms include night blindness that can for age-related macular degeneration and vision lead to corneal ulceration. Pregnancy increases the need for vitamins and Thiamin, Riboﬂavin, Niacin, Vitamin B6, Folate, iron in general. B Vitamins, homocysteine, and neu- of the patient to determine whether higher levels of rocognitive function. Case Study Vitamin Deﬁciency and Alcoholism patient has muscular weakness, apathy, and ANSWER: The symptoms resemble those you remem- Aedema in both legs. You schedule a series of ber from medical school for beriberi, but you fail to tests, including a cardiac stress test. If the pa- the stress test suggest that the patient is in moder- tient were consuming most of his calories as alco- ate congestive heart failure. The patient suffered a hol, he may have a nutritional deﬁciency, a beriberi- personal loss last year with the death of a son. You prescribe a daily vitamin tablet and suspect that the drinking is responsible for his pres- admonish the patient to cut back on alcohol intake. This does not include the pharmacognosy, which includes the study of herbal many (up to 25%) pharmaceutical products used in medicine. The resurgence of herbal medicine use has conventional practice that originally were, and in some once again made pharmacognosy extremely relevant to cases still are, derived from plants (Table 69. HERBAL MEDICINE TRADITIONS In addition, they are available without prescription, of- ten at much lower cost. Proponents of is also sometimes described as eclectic, since it has drawn herbal therapy also state that the multiple compounds on many other traditions, including the native American found in most herbal preparations have the advantage and Chinese. Chinese traditional medicine, Ayurvedic of acting synergistically; that is, they act in concert to (Indian), and Tibetan traditions use complex herbal produce a more enhanced effect than would a single recipes and nutrition to achieve “balance” in the ill pa- isolated component. Although these practices are most commonly found (Hypericum perfoliatum), which contains not only hy- in ethnic populations, they are also becoming popular in pericin, the ingredient it is usually standardized for, but some western complementary and alternative circles. It Homeopathic treatments frequently bear herbal is now believed that these other ingredients, far from names and are often confused with allopathic herbal 785 786 VII DRUGS AFFECTING THE ENDOCRINE SYSTEM TABLE 69. The difference is that homeopathic reme- Capsule Encapsulated herbal material dies are serially diluted and shaken until they may lack Syrup Concentrated sugar solution to preserve any molecule of the original herb ingredient. Therefore, infusion there is no risk of pharmacological toxicity from a Compress Cloth soaked in herbal solution Poultice Application of moist herbal paste homeopathic preparation. Thus, herbal products like digitalis, while quite and spiritual rather than speciﬁc physical complaints. Other herbs may not be superior to better- treat mood or physical problems either topically (as an researched pharmaceuticals, or they may delay the use adjunct to massage) or through inhalation. While herbal research has un- these oils are quite potent, and if not used in proper di- derstandably lagged far behind that of patented med- lution, they may cause skin irritation or contact allergy. Tinctures consist of an herb arrays of studies both supporting and questioning the steeped in a mix of alcohol and water, and extracts con- effectiveness of a particular herbal product. The alco- ﬂicting ﬁndings may result from ﬂawed study design, the hol content can be a concern, particularly with children. Food and Drug Administration (FDA) for this reason herb research, signiﬁcant gaps in knowledge remain. Some herbal preparations, particularly some un- POTENTIAL CONCERNS branded Asian imports, have been found to contain in- Detractors of herbal medicine use have legitimate con- active ﬁllers or adulterants. In one assessment, 24% of cerns about dosage variability, possible toxicity and imported herbs were found to contain ingredients not adulteration, herb–drug interactions, and above all, lack on the label. Far from being intrinsically harm- pirin, caffeine, diuretics, and even benzodiazepines), not less, many pharmacologically active plant alkaloids and to mention heavy metals, such as lead. Some Asian for- other compounds are natural defensive poisons; their mulations may also contain animal components.
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