By W. Lares. Rutgers University. 2018.
Inferiorly order viagra sublingual 100 mg visa, the canal terminates in the sacral hiatus order viagra sublingual 100mg, which trans- mits the 5th sacral nerve. On its lateral aspect, the sacrum presents an auricular facet for articula- tion with the corresponding surface of the ilium. The 5th lumbar vertebra may occasionally fuse with the sacrum in whole or in part; alternatively, the 1st sacral segment may be partially or completely separated from the rest of the sacrum. Beyond this the sacral canal is ﬁlled with the fatty tissue of the extradural space, the cauda equina and the ﬁlum terminale. Even if the hip joints are ﬁxed, this swing of the pelvis enables the patient to walk reasonably well. Joints and ligamentous connections of the pelvis The symphysis pubis is the name given to the cartilaginous joint between the pubic bones. Each pubic bone is covered by a layer of hyaline cartilage and is connected across the midline by a dense layer of ﬁbrocartilage. The centre of the latter may break down to form a cleft-like joint space which, however, is not seen before the ﬁrst decade and which is not lined by a synovial membrane. The joint is surrounded and strengthened by ﬁbrous ligaments, espe- cially above and below. The sacroiliac joints are the articulations between the auricular surfaces of the sacrum and ilium on each side and are true synovium-lined and cartilage-covered joints. These support the whole weight of the body, tending to drag the sacrum forward into the pelvis and, not surprisingly, are the strongest ligaments in the body. Their action is assisted by an interlocking of the grooves between the auricular surfaces of the sacrum and ilium. The sacrotuberous ligament passes from the ischial tuberosity to the side of the sacrum and coccyx. The sacrospinous ligament passes from the ischial spine to the side of the sacrum and coccyx. These two ligaments help to deﬁne two important exits from the pelvis: 1the greater sciatic foramen—formed by the sacrospinous ligament and the greater sciatic notch; 2the lesser sciatic foramen—formed by the sacrotuberous ligament and the lesser sciatic notch. When looking at a radiograph of the pelvis, the sex is best determined by three features: 1the pelvic inlet, heart-shaped in the male, oval in the female; 2the angle between the inferior pubic rami, which is narrow in the male, wide in the female. In the former, it corresponds almost exactly to the angle between the index and middle ﬁngers when these are held apart; in the latter the angle equals that between the fully extended thumb and the index ﬁnger. This is a particularly reliable feature; 3the soft tissue shadow of the penis and scrotum can usually be seen or, if not, the dense shadow of the lead screen used to shield the testes from harmful radiation. The transverse diameter of the outlet is assessed clinically by measuring the distance between the ischial tuberosities along a plane passing across the anus; the anteroposterior outlet diameter is measured from the pubis to the sacrococcygeal joint. The most useful measurement clinically is, however, the diagonal conjugate—from the lower border of the pubic symphysis to the promontory of the sacrum. Today accurate imaging tech- niques enable exact measurements to be made of the bony pelvis. The anteroposterior diameter of the inlet is therefore narrowed, but that of the outlet is increased. Clinical features Fractures of the pelvis These may be isolated lesions due to a localized blow or may be displace- ments of part of the pelvic ring due to compression injuries. Lateral com- pression usually results in fractures through both pubic rami on each side, or both rami on one side with dislocation at the symphysis; anteroposterior 132 The abdomen and pelvis compression may be followed by dislocation at the symphysis or fractures through the pubic rami accompanied by dislocation at the sacroiliac joint. Displacement of part of the pelvic ring must, of course, mean that the ring has been broken in two places. Falls upon the leg may force the head of the femur through the acetabu- lum, the so-called central dislocation of the hip. Isolated fractures may be produced by local trauma, especially to the iliac wing, sacrum and pubis. Associated with pelvic fractures one must always consider soft tissue injuries to bladder, urethra and rectum, which may be penetrated by spicules of bone or torn by wide displacements of the pelvic fragments. Occasionally in these pelvic displacements the iliolumbar branch of the internal iliac artery is ruptured as it crosses above the sacroiliac joint; this may be followed by a severe or even fatal extraperitoneal haemorrhage. Sacral (caudal) anaesthesia The sacral hiatus, between the last piece of sacrum and coccyx, can be entered by a needle which pierces skin, fascia and the tough posterior sacrococcygeal ligament to enter the sacral canal. Anaesthetic solution injected here will travel extradurally to bathe the spinal roots emerging from the dural sheath, which terminates at the level of the 2nd sacral segment. The perineal anaesthesia can be used for low forceps delivery, episiotomy and repair of a perineal tear. The muscles of the pelvic ﬂoor and perineum The canal of the bony and ligamentous pelvis is closed by a diaphragm of muscles and fasciae which the rectum, urethra and, in the female, the vagina, must pierce to reach the exterior. The muscles are divided into (a) the pelvic diaphragm, formed by the levator ani and the coccygeus; and (b) the superﬁcial muscles of the (a) anterior (urogenital) perineum and the (b) posterior (anal) perineum.
Trying to tell you adequately about being a clini- cal clerk is similar to trying to make someone into a swimmer on dry land viagra sublingual 100 mg free shipping. The terms to describe new clinical clerks may vary at different medical centers (“scut monkey buy 100 mg viagra sublingual free shipping,” “scut boy,” “scut dog,” “torpedoes”). These euphemistic expressions describing the new clinical clerk acknowledge that the transition, a sort of rite of passage, into the next phase of physician training has occurred. It is hoped that this “So You Want to Be a Scut Monkey” introduction and the information contained in this book will give you a good start as you enter the “hands on” phase of becoming a successful and respected physician. The details provided and length of the written H&P can vary with the particular problem and with the service to which the patient is admitted. History of the Present Illness (HPI): Defines the present illness by quality; quan- tity; setting; anatomic location and radiation; time course, including when it began; whether the complaint is progressing, regressing, or steady; of constant or intermittent frequency; and aggravating, alleviating, and associated factors. The information should be in chrono- logic order, including diagnostic tests done prior to admission. Related history, including previous treatment for the problem, risk factors, and pertinent negatives should be included. Any other significant ongoing problems should be included in the HPI in a separate section or paragraph. For instance, if a patient with poorly controlled diabetes mellitus comes to the emergency room because of chest pain, the HPI would first include information regarding the chest pain followed by a detailed history of the diabetes mellitus. If the diabetes mellitus was well controlled or diet-controlled, the history of the diabetes mellitus is placed in the past medical history. Past Medical History (PMH): Current medications, including OTC medications, vit- amins, and herbals; allergies (drugs and other—include how allergies are manifested); surg- eries; hospitalizations; blood transfusions, include when and how many units and the type of blood product; trauma; stable current and past medical problems unrelated to the HPI. Spe- cific illnesses to inquire about include diabetes mellitus, hypertension, MI, stroke, peptic ulcer disease, asthma, emphysema, thyroid and kidney disease, bleeding disorders, cancer, 9 Copyright 2002 The McGraw-Hill Companies, Inc. This category de- pends on the age and sex of the patient but could include last Pap smear and pelvic exam, breast exam, whether the patient does self breast examination, date of last mammogram, diphtheria/tetanus immunization, pneumococcal and flu vaccine, stool samples for hemoc- cult, sigmoidoscopy, cholesterol, HDL cholesterol, and use of seat belts. Pediatric patients: Include prenatal and birth history, feedings, food intolerance, and immunization history. Family History: Age, status (alive, dead) of blood relatives and medical problems for any blood relatives (inquiry about cancer, especially breast, colon, and prostate; TB, asthma; MI; HTN; thyroid disease; kidney disease; peptic ulcer disease; diabetes mellitus; bleeding disorders; glaucoma, and macular degeneration). Psychosocial (Social) History: Stressors (financial, significant relationships, work or school, health) and support (family, friends, significant other, clergy); life-style risk factors, (alcohol, drugs, tobacco, and caffeine use; diet; and exposure to environmental agents; and sexual practices); patient profile (may include marital status and children; present and past employment; financial support and insurance; education; religion; hobbies; beliefs; living conditions); for veterans, include military service history. Weight loss, weight gain, fatigue, weakness, appetite, fever, chills, night sweats Skin. Vision, changes in the visual field, glasses, last prescription change, photophobia, blurring, diplopia, spots or floaters, inflammation, discharge, dry eyes, excessive tear- ing, history of cataracts or glaucoma Ears. Hearing changes, tinnitus, pain, discharge, vertigo, history of ear infections Nose. Sinus problems, epistaxis, obstruction, polyps, changes in or loss of sense of smell Throat. Bleeding gums; dental history (last checkup, etc); ulcerations or other lesions on tongue, gums, buccal mucosa Respiratory. Chest pain; dyspnea; cough; amount and color of sputum; hemoptysis; history of pneumonia, influenza, pneumococcal vaccinations, or positive PPD Cardiovascular. Chest pain, orthopnea, dyspnea on exertion, paroxysmal nocturnal dyspnea, murmurs, claudication, peripheral edema, palpitations Gastrointestinal. Dysphagia, heartburn, nausea, vomiting, hematemesis, indigestion, ab- dominal pain, diarrhea, constipation, melena (hematochezia), hemorrhoids, change in stool shape and color, jaundice, fatty food intolerance Gynecologic. Gravida/para/abortions; age at menarche; last menstrual period (frequency, duration, flow); dysmenorrhea; spotting; menopause; contraception; sexual history, in- cluding history of venereal disease, frequency of intercourse, number of partners, sexual orientation and satisfaction, and dyspareunia Genitourinary. Frequency, urgency, hesitancy; dysuria; hematuria; polyuria; nocturia; incon- tinence; venereal disease; discharge; sterility; impotence; polyuria; polydipsia; change in urinary stream; and sexual history, including frequency of intercourse, number of partners, sexual orientation and satisfaction, and history of venereal disease Endocrine. Polyuria, polydipsia, polyphagia, temperature intolerance, glycosuria, hormone therapy, changes in hair or skin texture Musculoskeletal. Arthralgias, arthritis, trauma, joint swelling, redness, tenderness, limita- tions in ROM, back pain, musculoskeletal trauma, gout 1 History and Physical Examination 11 1 Peripheral Vascular. Varicose veins, intermittent claudication, history of thrombophlebitis Hematology. Syncope; seizures; weakness; coordination problems; alterations in sensa- tions, memory, mood, sleep pattern; emotional disturbances; drug and alcohol problems Physical Examination General: Mood, stage of development, race, and sex. State if patient is in any distress or is assuming an unusual position, such as, sitting up leaning forward (position often seen in patients with acute exacerbation of COPD or pericarditis) Vital Signs: Temperature (note if oral, rectal, axillary), pulse, respirations, blood pressure (may include right arm, left arm, lying, sitting, standing), height, weight. Blood pres- sure and heart rate supine and after standing 1 min should always be included if volume depletion is suspected, such as in GI bleeding, diarrhea, dizziness, or syncope. Skin: Rashes, eruptions, scars, tattoos, moles, hair pattern (See page 20 for definitions of dermatologic lesions. Conjunctiva; sclera; lids; position of eyes in orbits; pupil size, shape, reactivity; ex- traocular muscle movements; visual acuity (eg, 20/20); visual fields; fundi (disc color, size, margins, cupping, spontaneous venous pulsations, hemorrhages, exudates, A-V ratio, nicking) Ears. Test hearing, tenderness, discharge, external canal, tympanic membrane (intact, dull or shiny, bulging, motility, fluid or blood, injected) Nose. Symmetry; palpate over frontal, maxillary, and ethmoid sinuses; inspect for obstruc- tion, lesions, exudate, inflammation.
The value of assessing somatic dysfunction in differential diagnostic issues can be significant discount 100mg viagra sublingual overnight delivery. A wealth of clinical evidence viagra sublingual 100 mg cheap, including a 5-year double-blind study of 5000 119 hospitalized patients, suggests that the differential diagnosis of palpatory findings in the thoracolumbar spine should include secondary somatic dysfunction of segmentally related visceral disorders, and those in the craniocervical region should include secondary 90,120 somatic dysfunction from sinus, respiratory, cardiac and gastrointestinal disorders. Several mechanisms have been proposed and/or documented to explain various aspects of the tissue texture abnormalities and other somatic, visceral, vascular, lymphatic, immune, and neural responses seen in primary and secondary somatic 121–124 dysfunction. Similarly, many primary visceral afferent fibers affecting the spinal cord have the characteristics of nociceptive fibers. They produce neuropeptides such as substance-P and calcitonin gene-related polypeptide and respond to nociceptive stimuli. Some are even capable of eliciting a neurogenic inflammatory 126,127 response in the surrounding tissue. Thus, both somatic and visceral conditions are capable of creating musculoskeletal clues palpable as somatic dysfunction. From a diagnostic perspective, palpation for somatic dysfunction in patients with 13 visceral disorders is one of the hallmarks of the osteopathic approach. Relatively consistent palpatory findings are present, because visceral disorders stimulate afferents that, in turn, result in progressive and distinctive findings of secondary somatic dysfunction according to the autonomic innervations and sidedness of the involved viscus (Figure 12). Progression in the early visceral phase tends to be vague, poorly localized and midline over the appropriate collateral ganglion. By the time that the visceral problem ruptures or irritates adjacent visceral pleura/peritoneum, the peritoneocutaneous reflex localizes over Osteopathic considerations in neurology 101 Figure 11 Standard in-patient osteopathic examination form Complementary therapies in neurology 102 Figure 12 (a–c) Progression of pain and palpatory reflex findings in visceral disorders. This progression of pain and somatic findings in visceral disturbances have been extensively documented by 90,91 128 osteopathic physicians in the USA, by surgeons at the Mayo Clinic Foundation, and 129,130 by pain management specialists world wide. From a treatment perspective, primary somatic dysfunction typically responds well to 51,131 the various management strategies as previously discussed, whereas somatic 90,132 dysfunction secondary to visceral disorders responds variably and often recurs when addressed by these approaches alone. Maigne indicates that, when cervical somatic dysfunction is eliminated with manipulation, precipitating visceral factors that are still present will no longer trigger the 134 referred headaches. Travell and Simons noted that non-responsive gastric ulcers previously responsive to medication became nonresponsive in the presence of myofascial trigger points in the anterior thoracoabdominal region and did not respond to medication 135 again until this somatic dysfunction was removed. The segmental facilitation model has held up well in the correlations seen between the level of spinal somatic dysfunction and the autonomic innervation level associated with a given organ that is dysfunctional or diseased (refer back to Figure 3). To date, the sensitivity and specificities of the points tested have averaged 80% and their use in a blinded series of gynecological problems Osteopathic considerations in neurology 103 resulted in 80% sensitivity for the presence of ovarian disease and a 95% accuracy for 136 identifying the side of involvement. The integration of palpation data in the differential diagnosis of systemic disorders and suggestions for the use of OMT for removing somatic dysfunction to augment homeostatic mechanisms in the neural, vascular and lymphatic areas of a patient can be 90 found in the text Osteopathic Considerations in Systemic Dysfunction. Figure 13 Comparison of somatic dysfunction locations in patients with cardiac and gastrointestinal diagnoses Palpation to identify somatic dysfunction in hospitalized patients as an aid to making a differential diagnosis has maintained its prioritization. However, as diagnosis related group (DRG)-regulated hospital stays have both decreased in duration and increased in the severity of illness, the use of in-hospital OMT has dropped significantly. Today, most osteopathically delivered OMT is in the out-patient setting and studies indicate that the coding for that procedure is primarily associated with neuromusculoskeletal (somatic) diagnoses. Nonetheless, research, currently underway, suggests that intervention with OMT in certain categories of hospitalized care may be effective in decreasing the need for postoperative pain medications, providing earlier post-surgical ambulation for patients 137 who have undergone orthopedic lower extremity procedures and decreasing length of stays in general. Perhaps this is the result of decreasing side-effects of the alternative use of certain medications or reducing the need for intravenous catheters and intravenous 138 medication. The presence of moderate to severe somatic dysfunction in particular spinal patterns correlates with and thereby augments the differential diagnosis of a wide range of 90,128,139 visceral conditions. Indeed, irritationof upper thoracic spinal joint receptors simultaneously evokes numerous reflex alterations, including paravertebral muscle spasm 140 and alterations in endocrine, respiratory and cardiovascular functions. Specific palpatory findings of upper thoracic somatic dysfunction (especially affecting left upper thoracic paraspinal tissues) were reported in the British 141 Medical Journal as being consistently found in myocardial infarction. These palpatory findings of somatic dysfunction have a completely different pattern of distribution from the 139 secondary somatic dysfunction associated with patients with gastrointestinal problems (Figure 13). Other somatovisceral reflexes are implicated in patients with systemic symptoms ranging from asthma to duodenal ulcers to dysmenorrhea, and those with functional gastrointestinal 74 90 disorders, including irritable bowel syndrome. In response to a variety of stimuli, homeostatic functions are defensively altered through a series of complex feedback loops that monitor conditions in the peripheral tissues and make local and systemic adjustments as needed. Their role and the role that somatic dysfunction specifically 30 124 plays in disturbing homeostasis through reflex and neuroendocrine-immune 146 responses to the inflammation, edema and nociceptive bio-chemical mediators have 22,70 been extensively documented. Osteopathic considerations in neurology 105 SUMMARY While seeking health, the osteopathic approach to patient care is also designed to arrive at a differential diagnosis that considers both structural and functional problems. It builds much of the distinctive aspects of its approach on biopsychosocial, anatomical and 147,148 pathophysiological models and attempts to modify any and all stimuli (stressors) felt significantly to drive neurological and neuroendocrine responses. This chapter has also introduced OMT as a treatment modality for specifically treating somatic dysfunction as well as for modifying underlying nociceptive, postural imbalance and allostatic mechanisms and reflexes between somatic and visceral systems. The integrated use of OMT is considered generally to assist in maintaining homeostasis while specifically addressing concomitant somatic dysfunction and reducing allostatic load. This latter perspective still separates OMT by osteopathic physicians in the USA from 149 MDs who practice manual medicine, but hopefully this chapter has demonstrated the value of continued dialog and research collaboration. For the neurologist, the implications of osteopathic diagnosis and treatment for enhancing differential diagnosis are significant. The evidence base surrounding the entity known as somatic dysfunction is still in development.
Adverse effects range Guanidine from diplopia and irritation with blepharospasm to Guanidine hydrochloride is the drug of choice in the muscle weakness with dystonias viagra sublingual 100 mg on-line. One gram of crystalline toxin adequately dispersed can Its ability to enhance transmitter release may involve a kill a population of a million people buy discount viagra sublingual 100 mg, so its use in bioter- block of K channels and prolongation of the nerve ac- rorism is a possibility. Agents that have a similar effect include local limited by the ability or inability to aerosolize the toxin anesthetics, barbiturates, and phencyclidine. Contaminating the water or duce the ﬂow of ions and shorten the duration of time food supply is also a possibility, although the toxin is the channel is open. Prior immuniza- found in the central and autonomic nervous systems tion with toxoid vaccine is advisable for personnel at (neuronal AChRs). Although both are activated by risk, but prophylactic administration of trivalent equine nicotine, each is blocked by a different antagonist (e. Lambert-Eaton Myasthenic Syndrome Myasthenia Gravis Lambert-Eaton myasthenic syndrome (LEMS) is an au- The “acquired” form of myasthenia gravis (MG) is an toimmune disease that is often associated with small- autoimmune disease with an incidence approaching 1 in cell lung carcinoma. This leads to muscular junction appears normal in morphology, and degradation of AChRs, reduction of synaptic infoldings, postjunctional receptor function is unchanged. How- and weakness due to diminished postjunctional re- ever, particles at the active zones of nerve terminals that sponse. Because anti-AChR antibodies are found in correspond to Ca channels are reduced in number nearly 90% of MG patients, serum testing can serve as and disorganized, and patients with LEMS have high a diagnostic tool. MG is often found associated with ab- titers of antibodies against the prejunctional P/Q-type normalities of the thymus, which contains a protein that Ca channel. Standard treatment consists of anti-AChE agents such Diagnosis is conﬁrmed by an incremental increase in as pyridostigmine, whose effect is long-lasting and pre- electromyographic recordings upon repetitive stimula- dictable. Thymectomy is a good option for thesia, gastrointestinal distress, renal tubular necrosis, patients under 50 years of age. The most serious effect is bone agents, such as corticosteroids and possibly azathioprine marrow depression, which is dose-related and poten- or cyclosporine A, are also effective. Corticosteroids and plasmapheresis may also be of some beneﬁt, whereas anticholinesterase agents are only marginally effective. NEUROMUSCULAR BLOCKING AGENTS Depolarizing Blocker (Succinylcholine) DEPRESSION OF POSTJUNCTIONAL RESPONSE TO ACETYLCHOLINE Succinylcholine chloride (Anectine) is the only depolar- izing-type blocker that is in widespread clinical use. It produces neuromuscular block by overstimulation, so Neurotoxins that the end plate is unable to respond to further stimula- -Bungarotoxin ( -BTX), isolated from snake venom, tion. Structurally, succinylcholine is equivalent to two is a protein that binds selectively and irreversibly to the ACh molecules joined back to back. Because binding of the toxin is irre- carbon atom spacing between the two quaternary am- versible, recovery from -BTX block indicates synthesis monium heads is important for activation of the two and insertion of new AChR into the membrane. Because the succinylcholine using -BTX show that the AChR is a glycoprotein con- molecule is “thin,” binding to the two sites does not ster- sisting of ﬁve polypeptide subunits (,,,, and ). The ically occlude the open channel, and cations are allowed complex is a cylindrical unit about 8 nm in diameter that to ﬂow and depolarize the end plate. Neuromuscular block with succinylcholine occurs Histrionicotoxin, obtained from a Panamanian frog, by two sequential events. An initial depolarization of is a toxin that attaches to a high-afﬁnity site within the the end plate produces muscle action potentials and pore of the AChR complex and results in muscular fasciculation. Maintained depolarization past the 342 IV DRUGS AFFECTING THE CENTRAL NERVOUS SYSTEM threshold for ﬁring produces Na channel inactivation, vention of injury during electroconvulsive therapy. Apart from its rapid onset and brief action, succinyl- This is called phase I, or depolarization block. Succinylcholine produces muscle fasciculation, which Nonetheless, the neuromuscular block persists because may result in myoglobinuria and postoperative muscle of desensitization of the AChR. Succinylcholine causes contractions of Although the mechanism for phase II block is not extraocular muscles, posing the danger of transient ele- completely understood, a series of allosteric transitions vated intraocular pressure. One model to describe this duce hyperkalemia in patients with large masses of has the AChR in equilibrium among four conforma- traumatized or denervated muscle (e. Denervated muscle is especially sensitive to de- stabilize the active and desensitized states, whereas an- polarizing drugs because of the increased number of tagonists tend to stabilize the resting and possibly the AChRs on the sarcolemma (denervation supersensitiv- desensitized state. Succinylcholine also causes prolonged contraction of the diseased muscles of patients with myotonia or Absorption, Metabolism, and Excretion amyotrophic lateral sclerosis. Succinylcholine is given systemically because the mole- Succinylcholine-induced hyperkalemia may lead to cardiac arrhythmia and arrest when plasma K reaches cule is charged and does not easily cross membranes. Be- tate a fulminant attack of malignant hyperthermia in cause plasma cholinesterase is synthesized in the liver, susceptible individuals (not to be confused with neu- neuromuscular block may be prolonged in patients with roleptic malignant hyperpyrexia, which involves do- liver disease. The response to succinylcholine of cooling the body and administering oxygen and may also be prolonged in individuals with a genetic defect dantrolene sodium (discussed later). In this case, the enzyme has Nondepolarizing Blockers: d-Tubocurarine, a decreased afﬁnity for substrates such as succinylcholine Atracurium, Mivacurium, Pancuronium, that can be measured by the dibucaine test. Vecuronium, Rocuronium, and Rapacuronium Pharmacological Actions Mechanism of Action Succinylcholine acts primarily at the skeletal neuromus- With the exception of succinylcholine, all neuromuscular cular junction and has little effect at autonomic ganglia blocking agents are nondepolarizing.
However 100 mg viagra sublingual visa, other eventually leading to damage of the optic nerve experts have argued against this view discount 100mg viagra sublingual amex, stating that and ongoing visual loss. Difficulty seeing cataracts, while this problem is less common among objects that are far away. In addition, most subjects Osteoarthritis—A degenerative joint disease that with Marshall syndrome have moderate to severe hearing causes pain and stiffness. There Marshall syndrome were much more likely to have short are also patients who have apparent overlaps of both syn- stature than those with Stickler syndrome. In 1998, a study used genetic testing to establish Genetic profile that a collagen genetic mutation on COL11A1 caused Marshall syndrome and that a change on COL2A1 The gene name for Marshall syndrome is Collagen, caused Stickler syndrome. Marshall syndrome is an autosomal dominant genetic trait and the risk of an A study in 1999 described a genetic study of 30 affected parent transmitting the gene to the child is 50%. Twenty-three novel mutations of copy of the abnormal gene (received from either parent) COL11A1 and COL2A1 were found among the subjects. For example, all the patients with Marshall syndrome had moderate to severe hearing loss, Demographics while none of the patients with Stickler syndrome had hearing loss. About half the patients with overlapping Because of the rarity of this disease, very little disorders of both diseases had hearing loss. Less than 100 cases of patients with Marshall syndrome had short noses, com- individuals with this syndrome have been reported world- pared to about 75% of the patients with Stickler syn- wide in medical literature. Palate abnormalities occur in all patients with agnosed because of the high expense of genetic testing. It Stickler syndrome, compared to only about 80% of those is known that Marshall syndrome presents in infancy or with Marshall syndrome. Also, about a third of the early childhood and severe symptoms such as hearing Stickler patients had dental abnormalities, compared to loss and cataracts manifest before the age of 10 years. Those with Adults with the syndrome retain the facial traits that are Stickler (71%) had a higher percentage of cataracts than characteristic of this disease, such as flat nose, large nasal those with Marshall syndrome (40%). Among those with GALE ENCYCLOPEDIA OF GENETIC DISORDERS 713 Stickler syndrome, in contrast, these distinctive facial ORGANIZATIONS characteristics diminish in adulthood. As a result, people may be diagnosed as possible Christine Adamec Marshall syndrome or possible Stickler syndrome, based on their symptoms and appearance. Treatment and management IMarshall-Smith syndrome Marshall syndrome cannot be cured; however, the symptoms caused by the disease should be treated. Definition Children with Marshall syndrome should have annual Marshall-Smith syndrome is a childhood condition eye and ear checkups because of the risk for cataracts and involving specific facial characteristics, bone maturation hearing loss. If a child with Marshall syndrome has osteoarthritis, doctors may advise Description against contact sports. Marshall-Smith syndrome (MSS) was first described Prognosis in two males seen in 1971 by Drs. They noticed changes in the skeletal As they age, vision and hearing problems will system of these patients. Bones normally mature through generally worsen for patients with Marshall syndrome. For example, in 1993 a newborn child with MSS was found to have the “bone Resources age” of a three year-old child. PERIODICALS Specific facial features in MSS include a wide and Annunen, Susanna, et al. Pneumonia, or a lung infection, is common because of this; these can occur several times. KEY TERMS Significant mental and physical delays are almost always expected in MSS. Since children with MSS are Cartilage—Supportive connective tissue which often hospitalized for long periods of time to help treat cushions bone at the joints or which connects respiratory problems, they may also be slower to do muscle to bone. Corpus callosum—A thick bundle of nerve fibers No two patients with MSS have the exact same symp- deep in the center of the forebrain that provides toms, as there is some variability with the condition. There communications between the right and left cere- are no alternate names for Marshall-Smith syndrome, bral hemispheres. The vast majority of people with MSS are unique in their family; there is usually no family history of the con- Phalanges—Long bones of the fingers and toes, dition. Because of this, MSS is thought to be a random, divided by cartilage around the knuckles. As of 2001, no specific Trachea—Long tube connecting from the larynx gene has been associated with MSS, and other genetic down into the lungs, responsible for passing air. Standard genetic testing, such as chromosome analysis and metabolic Tracheostomy—An opening surgically created in studies, typically are normal for patients with MSS. In 1999, a group in Saudi Arabia reported a young girl with features of MSS who had a chromosome abnor- Umbilical hernia—Protrusion of the bowels mality.