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Hydrops fetalis—A condition characterized by Demographics massive edema in a fetus or newborn discount cytotec 200mcg overnight delivery medicine norco. Between one and three percent of the Amish people Hypospadias—An abnormality of the penis in of Lancaster County buy 200 mcg cytotec amex medications equivalent to asmanex inhaler, Pennsylvania are believed to be car- which the urethral opening is located on the riers of the disease, having just one copy of the altered underside of the penis rather than at its tip. The related Bardet-Biedl syndrome is estimated to occur between one in 125,000 and one in 160,000 people. Among an isolated community in Newfoundland, Positional cloning—Cloning a gene simply on the Canada, the prevalence is estimated to be ten times higher. Signs and symptoms Tracheo-esophageal fistula—Abnormal connec- tion between the trachea and esophagus, fre- Many abnormalities associated with MKS are visible quently associated with the esophagus ending in a in a physical exam. The diagnosis is made by noting physical GALE ENCYCLOPEDIA OF GENETIC DISORDERS 723 most of these persons can live relatively normal lives. Some abnormalities, such as hypospadias, vaginal atre- sia, choanal atresia, tracheo-esophageal fistula, or Hirschsprung megacolon, may require multiple opera- tions. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th ed. Yosemite Street, distension, peritoneal cysts, Hirschsprung megacolon, or Box F2-156, Greenwood Village, CO 80111. Affected rural and Amish girls should be delivered in settings that allow rapid surgical intervention and correction of abnormali- ties. With rapid initial surgical intervention, at the lower (distal) end of the small intestine. KEY TERMS Description Appendectomy—The procedure to surgically remove an appendix. The diverticulum is most easily described as a blind pouch that is a remnant of the omphalomesenteric duct or Appendicitis—Inflammation of the appendix. It contains all Appendix—A portion of intestine attached to the layers of the intestine and may have ectopic tissue pres- cecum. It is Congenital—Refers to a disorder which is present located about 2 ft from the end of the small intestine, is at birth. The and nearly identical chemical behavior but with most common problem is inflammation or infection that differing atomic mass and physical properties. This diagnosis is defined at the time Peptic ulcer—A wound in the bowel that can be of surgery for suspected appendicitis. Bleeding caused by caused by stomach acid or a bacterium called ectopic stomach tissue that results in a bleeding ulcer is Helicobacter pylori. The third potential complication is Volvulus—A twisted loop of bowel, causing obstruction due to intussusception, or a twist around a obstruction. This prob- lem presents as a small bowel obstruction, however, the true cause is identified at the time of surgical exploration. If there is obstruction, the abdomen will distend and there will be cramping pain and vomiting. It is a ves- tigial remnant of the omphalomesenteric duct, an embry- The situation may be so acute that surgery is needed onic structure that becomes the intestine. The finer points of diagnosis can be accomplished when the abdomen is Demographics open for inspection during a surgical procedure. Complications occur three to five times more bloodstream will accumulate at sites of bleeding or in frequently in males. Symptoms usually occur in children under 10 years Treatment and management of age. Gruber also published Bile duct—A passageway that carries bile (fluid reports of MGS patients in 1934 and gave it the name secreted by the liver involved in fat absorption) dysencephalia splanchnocystica. MGS is also known as from the liver to the gallbladder to the small intes- Meckel syndrome and Gruber syndrome. MGS affects many different organ systems including Clubfoot—Abnormal permanent bending of the the central nervous system (brain and spinal cord), face, ankle and foot. Human preg- abnormal development and differentiation of the embry- nancies are normally divided into three trimesters: onic mesoderm (the early tissue layer that contributes to first (conception to week 12), second (week 13 to the formation of the bones, cartilage, muscles, reproduc- week 24), and third (week 25 until delivery). The cells of the mesoderm must divide, migrate, associate, and specialize in a precise manner to form these body parts. Any problem in any step of the process Demographics can lead to multiple abnormalities in various organ MGS has an estimated incidence between one in systems. This means that Since MGS causes severe birth defects and death in between one person per 50 and one person per 180 is an the newborn period, it can be devastating for families. The incidence is also not know they are at risk until they have a child with higher among Belgians and Bedouins in Kuwait with one MGS. This can cause feelings of anger, disbelief, and affected birth in 3,500 (one person in 30 is a carrier). The incidence among Jews in Israel is one in 50,000 (one person in 112 is a carrier). Cases of MGS have been The autosomal recessive inheritance pattern in reported in North America, Europe, Israel, Indonesia, MGS is well-documented. Parents of affected children are assumed to be carriers and have a 25% chance of MGS recurrence in each pregnancy.

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This technique has been used by many investigators within rat buy 100mcg cytotec amex medicine 319 pill, cat and monkey cerebral cortex to determine organization of movement representations with high spatial resolution discount 200 mcg cytotec free shipping medicine lookup. Because our interests have focused on skilled hand use and the consequences of motor learning within M1, we have concentrated our efforts on the distal hand and forearm representation in primates (see Figure 8. The dexterity and agility of the primate hand is ideal for studying motor skill learning, and because of the complex interaction of the intrinsic muscles and joints during motor skill learning, it is ideal for studying modifications in the central nervous system as optimal strategies are learned. In our ICMS experiments, we use glass micro- pettes with tips averaging about 10 to 20 µm in diameter. The stimulating electrode is placed perpendicular to the cortex and mechanically lowered to a depth of about 1,750 µm targeting layer V of M1, the location of the corticospinal cell bodies. Each electrode penetration is recorded on a digital picture of the exposed cortical surface at 250 µm increments © 2005 by Taylor & Francis Group. Thin black line circumscribes penetrations where ICMS evoked movements of the distal forelimb, or hand. Right: More detailed topography of distal forelimb movement representations in the same monkey. Note the mosaic appearance of interdigitated digit and wrist/forearm representations. This method allows us to create a detailed map, or topographic representation of movements in the tangential plane (see Figure 8. As this procedure induces negligible damage to the cortical tissue due to the small size of the microelectrodes, the mapping procedures can be repeated multiple times to detect changes in topography that may be associated with learning new motor- skills. Multiple maps in the same animal (within-subjects design) are necessary, since results from our motor mapping procedures demonstrate that baseline motor maps are highly individualized, presumably representing the personal history of each monkey before training. The wells differ in diameter ranging from wells large enough for the insertion of all digits, to wells that only allow one or two digits to be inserted. Monkeys are trained to make multiple retrievals of these food pellets for about one hour per day. ICMS maps are derived prior to motor skill training to establish a normal baseline for each monkey and then again following extensive training on the Klüver board. Caudally the hand representation is bordered by somatosensory cortex (specifically, area 3a) and no ICMS-evoked responses are elicited from stimulation at the low current levels used in our protocol. The first of these studies to demonstrate the dynamic relationship between movement representations and how they reflect the behavioral demands of varying environmental contingencies was reported in 1996. The resulting movement representations in M1 reflected the demands of the task: there was an increase in digit representations for the monkeys trained on the Klüver board at the expense of wrist/forearm representations, and the opposite was true for the monkey trained to turn the bolt (see Figure 8. Another important finding from this study that addresses the mechanisms of use-dependant plasticity is the increase in multiple-joint movements involving the simultaneous execution of digit and wrist or digit and proximal movements form ICMS stim- ulation at low thresholds (less than 20 µA). These evoked multi-joint movements are referred to as dual responses and were only seen in abundance after digit training. The implication is that these simultaneous movements may become associated in the cortex through Hebbian-like synaptic mechanisms in which horizontal fibers connecting the two areas become strengthened through associ- ated, repetitive activation. The results of these early experiments revealed common use-dependent plasticity shared by primary visual cortex, auditory cortex and somatosensory cortex. The next question addressed in our laboratory was whether motor activity alone was sufficient to drive changes in motor cortex independent of learning new motor skills. Previous studies indicated that motor skill training led to learning induced changes in M1. To address this issue, monkeys trained on the smallest well on the Klüver board were compared to monkeys trained on the largest well. The smallest well on the Klüver board requires the monkeys to use only one or two digits to remove the food pellets. Squirrel monkeys do not possess monosynaptic corticospinal projec- tions to motor neurons as other primates (such as macaque monkeys, as well as humans). This anatomical trait may be related to a greater difficulty for squirrel monkeys to use their digits independently. Motor maps acquired after monkeys retrieved pellets from the large well (for an equivalent number of finger flexions) did not differ from their baseline maps whereas the motor maps acquired from the monkeys trained on the small well showed an increase in digit area. The results of this experiment indicate that repetition of motor tasks is not sufficient to drive neurophysiological changes in motor cortex, and that skill-learning may be essential (see Figure 8. Monkey 50 Pre 45 Post 40 35 30 25 20 Small well Large well Training Condition Rat 0. Bottom: Digit representation in caudal forelimb area of rats trained to retrieve pellets compared to caudal forelimb area of rats that merely pressed a bar to obtain food. It would appear that motor representations are shaped by acquisition of new motor skills, but not by repetitive use alone.

Additionally cheap cytotec 100mcg with visa symptoms genital herpes, such systems integrate short term user interests into accumulated context profiles buy cytotec 200 mcg low price medicine 54 092, and tend to inhibit highly specialized queries which the user is currently interested in. Budzik, Hammond & Birnbaum (2001) presented a system that tries to guess the user context from open documents currently edited or browsed on the work space. In an evaluation of their system both achieved consistently better results than standard search engines are able to achieve without context. Additionally, the user might discover a context he had not in mind when formulating the query and thus find links between his intended and an Copyright © 2005, Idea Group Inc. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Interactive Information Retrieval Towards Effective Knowledge Management 61 unanticipated context. Augmenting Document Sets with Context Text Categorization One way to add context to a document is by assigning a meaningful label to it (Le & Thoma, 2003). This constitutes a task of text categorization and there exist numerous algorithms that can be applied. The general approach is to select a training set of documents that are already labelled. Based on the “bag of words” representation, machine learning methods learn the association of category labels to documents. For an in depth review of statistical approaches (such as naives Bayes or decision trees) see Yang (1999). Computationally more advanced methods utilize artificial neural network architectures such as the support vector machine which have achieved break even values close to 0. However, in the medical domain, 100 categories are seldom adequate to describe the context of a text. In case of the MEDLINE database, the National Library of Medicine has developed a highly standardized vocabulary, the Medical Subject Headings (MeSH) (Lowe & Barnett, 1994). They consist of more than 35,000 categories that are hierarchi- cally organized and constitute the basis for searching the database. To guarantee satisfactory search results of constant quality, reproducible labels are an important prerequisite. However, the cost of human indexing of the biomedical literature is high: according to Humphrey (1992) it takes one year to train an expert the task of document labelling. Funk, Reid, and McGoogan (1983) have reported a mean agreement in index terms ranging from 74 percent down to as low as 33 percent for different experts. Because the improvement of index consistency is such demanding, assistance systems are considered to be a substantial benefit. Recently, Aronson, Bodenreider, Chang, Humphrey, Mork, Nelson, Rindflesh, and Wilbur (2000) have presented a highly tuned and sophisticated system which yields very promising results. Additionally to the bag of words model their system utilizes a semantic network describing a rich ontology of biomedical knowledge (Kashyap, 2003). Unfortunately, the high complexity of the MeSH terms makes it hard to incorporate a MeSH-based categorization into a user interface. When navigating the results of a hierarchically ordered answer set it can be a time-consuming and frustrating process: Items which are hidden deep within the hierarchy can often only be obtained by descending a tree with numerous mouse-clicks. Since screen space is a limited resource only a small area of context is visible and requires internal “recalibration” each time a new branch is selected. To overcome this problem, focus and context techniques are considered to be of high value. Copying or distributing in print or electronic forms without written permission of Idea Group Inc. Leuski (2001) has conducted an experiment where an agglomerative clustering method was used to group the documents returned by a search engine query. He presented the user not with a ranked list of retrieved documents, but with a list of clusters, where each cluster in turn was arranged as a list of documents. The experiment showed, that this procedure “can be much more helpful in locating the relevant information than the traditional ranked list. Other experiments also validated the cluster hypothesis on several occasions (Hearst & Pedersen, 1996; Zamir & Etzioni, 1999). Recently the vivisimo2 search engine has drawn attention by utilizing an online clustering of retrieval sets, which also includes an interface to PubMed / MEDLINE. Visualizing Context Another way to create context in line with the spirit of the cluster hypothesis is by embedding the document space in a visual display. By making the relationship between documents visually more explicit, such that the user can actually see inter-document similarities, the user gets (i) an overview of the whole collection, and (ii) once a relevant document has been found, it is easier to locate others, as these tend to be grouped within the surrounding context of already identified valuable items.

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From these centers purchase cytotec 200mcg overnight delivery schedule 9 medications, the first fibers impulses from the sympathetic nervous system: extend to autonomic ganglia that are usually located near 9 Increase in the rate and force of heart contractions cheap 200 mcg cytotec free shipping symptoms 39 weeks pregnant. The pathways then continue along post- tive heartbeat and partly to constriction of small arter- ganglionic neurons that stimulate the involuntary tissues. The neurons of the parasympathetic system release the neurotransmitter acetylcholine, leading to the de- Dilation of blood vessels to skeletal muscles, bringing scription of this system as cholinergic (activated by more blood to these tissues. Functions of the Autonomic Stimulation of the central portion of the adrenal gland. This produces hormones, including epinephrine, that Nervous System prepare the body to meet emergency situations in many Most organs are supplied by both sympathetic and parasym- ways (see Chapter 12). The sympathetic nerves and pathetic fibers, and the two systems generally have opposite hormones from the adrenal gland reinforce each other. The sympathetic part of the ANS tends to act as an Increase in basal metabolic rate. It promotes what is called the fight-or-flight response (for near objects). Effects of the Sympathetic and Parasympathetic Systems on Table 9•4 Selected Organs Effector Sympathetic System Parasympathetic System Pupils of eye Dilation Constriction Sweat glands Stimulation None Digestive glands Inhibition Stimulation Heart Increased rate and strength of beat Decreased rate of beat Bronchi of lungs Dilation Constriction Muscles of digestive system Decreased contraction (peristalsis) Increased contraction Kidneys Decreased activity None Urinary bladder Relaxation Contraction and empty- ing Liver Increased release of glucose None Penis Ejaculation Erection Adrenal medulla Stimulation None Blood vessels to: Skeletal muscles Dilation Constriction Skin Constriction None Respiratory system Dilation Constriction Digestive organs Constriction Dilation 196 CHAPTER NINE Box 9-3 A Closer Look Cell Receptors: Getting the MessageCell Receptors: Getting the Message eurons use neurotransmitters to communicate with other found on effector cells of the parasympathetic nervous sys- Ncells at synapses. ACh can either stimulate or inhibit muscarinic recep- “docking sites,” the receptors on the receiving (postsynaptic) tors depending on the effector organ. A neurotransmitter fits into its receptor like stimulates digestive organs but inhibits the heart. When norepineph- Among the many different classes of identified receptors, rine (or epinephrine) binds to adrenergic receptors, it can ei- two are especially important and well-studied. For example, “beta- Nicotinic receptors (which bind nicotine) are found on blockers” regulate the heart in cardiac disease by preventing skeletal muscle cells and stimulate muscle contraction when 1 receptors from binding epinephrine, the neurotransmitter ACh is present. Saliva, for example, flows more easily and pro- systems not directly involved in the response to stress, fusely, and its quantity and fluidity increase. If you try to eat Most organs of the body receive both sympathetic and while you are angry, you may note that your saliva is thick parasympathetic stimulation, the effects of the two sys- and so small in amount that you can swallow only with dif- tems on a given organ generally being opposite. Under these circumstances, when food does reach 4 shows some of the actions of these two systems. The parasympathetic system brings about con- striction of the pupils, slowing of the heart rate, and con- striction of the bronchial tubes. It also stimulates the for- Checkpoint 9-15 Which division of the ANS stimulates a stress response, and which division reverses the stress response? Learning the meanings of these parts can help you remember words and interpret unfamiliar terms. WORD PART MEANING EXAMPLE The Nervous System as a Whole soma- body The somatic nervous system controls skeletal muscles that move the body. The Spinal Cord myel/o spinal cord Poliomyelitis is an infectious disease that involves the spinal cord and other parts of the CNS. Role of the nervous system (3) Mixed nerve—contains both sensory and motor fibers 9 A. The nervous system at work supplies smooth muscle, cardiac muscle, glands A. Nerve impulse transmitted from presynaptic neuron to (1) Neurilemma—outermost layer of Schwann cell; postsynaptic neuron aids axon repair 2. Receptors—in postsynaptic membrane; pick up neuro- myelinated tissue transmitters B. Sensory (afferent)—carry impulses toward CNS enzyme, return to presynaptic cell (reuptake) 2. Ends between first and second lumbar vertebrae (2) Perineurium—around each fascicle C. White matter around gray matter (1) Sensory (afferent) nerve—contains only fibers that a. Ascending tracts—carry impulses toward brain carry impulses toward the CNS (from a receptor) b. Descending tracts—carry impulses away from brain (2) Motor (efferent) nerve—contains only fibers D. Reflex arc—pathway through the nervous system that carry impulses away from the CNS (to an 1. Receptor—detects stimulus 198 CHAPTER NINE b. Reflex activities—simple reflex is rapid, automatic re- ica, herpes zoster (shingles), Guillain-Barré sponse using few neurons a. Injuries ganglia (celiac, superior mesenteric, inferior mesen- teric) VI. Usually have opposite effects on an organ Questions for Study and Review Building Understanding Fill in the blanks 1.

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