Sample records for syndrome ressonancia magnetica

  1. Metabolic Syndrome

    MedlinePLUS

    ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ... 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is a collection of problems that ...

  2. Beals Syndrome

    MedlinePLUS

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  3. Sjögren syndrome

    MedlinePLUS

    Xerostomia-Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... in children. Primary Sjögren syndrome is defined as dry eyes and dry mouth without another autoimmune disorder. Secondary ...

  4. Tourette Syndrome

    MedlinePLUS

    What Is Tourette Syndrome? Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are ... few months or a year. Continue Who Gets Tourette Syndrome? Tourette syndrome can affect people of all ...

  5. Tourette Syndrome

    MedlinePLUS

    NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

  6. Fanconi syndrome

    MedlinePLUS

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome ...

  7. Tourette Syndrome

    MedlinePLUS

    ... first described the condition in 1885. What Is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ... is still being studied. Back Continue Dealing With Tourette Syndrome Many people don't understand what TS ...

  8. Dravet Syndrome

    MedlinePLUS

    NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  9. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  10. Usher Syndrome

    MedlinePLUS

    ... for Usher syndrome. The best treatment involves early identification so that educational programs can begin as soon ... syndrome. Other areas of study include the early identification of children with Usher syndrome, treatment strategies such ...

  11. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  12. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  13. Metabolic Syndrome

    MedlinePLUS

    ... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...

  14. Learning about Down Syndrome

    MedlinePLUS

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  15. Premenstrual syndrome

    MedlinePLUS

    Brown I, O'Brien PMS, Marjoribanks I, Wyatt K. Selective serotonin reuptake inhibitors for premenstrual syndrome. Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and ...

  16. Tourette Syndrome

    MedlinePLUS

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

  17. Rett Syndrome

    MedlinePLUS

    ... is Rett Syndrome? Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child ... antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children ...

  18. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  19. Klinefelter syndrome

    MedlinePLUS

    47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

  20. Asperger Syndrome

    MedlinePLUS

    ... have certain genetic or chromosomal conditions, such as fragile X syndrome  or tuberous sclerosis . 11-14 When taken ... and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008; 113(1): 44- ...

  1. Hunter syndrome

    MedlinePLUS

    ... Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets worse over time Loss of ability to complete daily living activities Joint stiffness that ...

  2. Goodpasture syndrome

    MedlinePLUS

    Goodpasture syndrome is a rare disease that can involve quickly worsening kidney failure and lung disease. Some ... Goodpasture syndrome is an autoimmune disorder . It occurs when the immune system mistakenly attacks and destroys healthy ...

  3. Joubert Syndrome

    MedlinePLUS

    ... sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. NIH Patient Recruitment for Joubert Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  4. Metabolic syndrome.

    PubMed

    Cho, L W

    2011-11-01

    Metabolic syndrome is a clustering of different risk factors that collectively increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and polycystic ovary syndrome. This review aims to discuss recent developments related to the syndrome, including the associated metabolic complications and goals for therapeutic strategies. PMID:22173246

  5. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5½-year-old child. PMID:22169837

  6. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  7. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  8. Down syndrome

    MedlinePLUS

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

  9. Learning about Velocardiofacial Syndrome

    MedlinePLUS

    ... terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? What are the ... Syndrome Additional Resources for VCFS What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a genetic condition that ...

  10. [Capgras' syndrome].

    PubMed

    Ben-Zion, I Z; Levine, K; Shiber, A

    1997-09-01

    We present 3 cases of Capgras' syndrome-a delusional disorder in which the patient believes that 1 (or more) of his acquaintances has been replaced by an imposter who appears as a double. 2 were schizophrenics and 1 had depression with psychotic features. This syndrome is rare in our practice, but we do not know if this is due to lack of awareness of the condition, or to the possibility that it is a culture-related syndrome. We suggest that although the syndrome has lost some of it's significance, it is still worth making the diagnosis because of the medical and psychological implications this condition carries. PMID:9461686

  11. Down Syndrome What causes Down syndrome?

    E-print Network

    Palmeri, Thomas

    04/13 Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra chromosome 21. Down syndrome occurs in about 1 in every 700 to 1,000 births. The chance of giving birth to a baby with Down syndrome increases if the mother is over 35 years old. Down syndrome affects both males

  12. Klinefelter Syndrome

    MedlinePLUS

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic centers called ...

  13. HELLP Syndrome

    MedlinePLUS

    ... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

  14. Genetics Home Reference: Noonan syndrome

    MedlinePLUS

    ... use for Noonan syndrome? familial Turner syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Noonan-Ehmke syndrome pseudo-Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype, ...

  15. Goldenhar syndrome.

    PubMed

    Sharma, Neeraj; Passi, Sidhi

    2013-01-01

    Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

  16. Bartter syndrome

    MedlinePLUS

    ... to reabsorb sodium. Persons affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body. This ...

  17. Marfan Syndrome

    MedlinePLUS

    ... Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A ... shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies ...

  18. Aicardi syndrome

    MedlinePLUS

    ... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  19. Sjögren's Syndrome

    MedlinePLUS

    ... effects of saliva, you may develop more dental decay (cavities) and mouth infections. Sjögren’s syndrome can also ... mouth makes you extremely prone to progressive dental decay (cavities). Water. Take sips of water or another ...

  20. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  1. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  2. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  3. Alagille Syndrome

    MedlinePLUS

    ... bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the ... syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of ...

  4. Ohtahara Syndrome

    MedlinePLUS

    ... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...

  5. Sotos Syndrome

    MedlinePLUS

    ... threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age ...

  6. Marfan Syndrome

    MedlinePLUS

    ... surgery. Some people may also choose to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  7. Menkes syndrome

    MedlinePLUS

    Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it. ... Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J- ...

  8. Hurler Syndrome

    MedlinePLUS

    ... the body how to work properly. In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block chemicals into smaller ones. When ...

  9. Down Syndrome

    MedlinePLUS

    ... Special help, such as physical therapy and speech therapy , can give kids a boost with their walking and talking skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

  10. Aortoduodenal syndrome.

    PubMed

    Takagi, H; Watanabe, T; Umemoto, T

    2015-10-01

    Duodenal obstruction caused by abdominal aortic aneurysm (AAA), i.e. "aortoduodenal syndrome," first described by Osler in 1905 is a rare clinical entity, with only several dozens of cases reported in the literature. In the present paper, we systematically searched literature and reviewed them. Databases including MEDLINE and EMBASE were searched from January 1981 to April 2014 using Web-based search engines (PubMed and OVID). Eighteen papers reported 21 cases with aortoduodenal syndrome. Mean age of patients was 74.5±8.4 years, 71.4% of patients were men, and mean AAA diameter was 7.2±2.1 cm. We also discussed confusion between aortoduodenal syndrome and "superior mesenteric artery syndrome" associated with AAA. PMID:25216355

  11. Sjogren's Syndrome

    MedlinePLUS

    ... and destroy the glands that produce tears and saliva. Sjögren's syndrome is also associated with rheumatic disorders ... increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, ...

  12. Hepatorenal syndrome.

    PubMed

    Bataller, R; Ginès, P; Guevara, M; Arroyo, V

    1997-01-01

    Hepatorenal syndrome is a common complication in patients with advanced cirrhosis and ascites characterized not only by renal failure but also by marked alterations in systemic hemodynamics and vasoactive systems. Renal failure is due to a marked hypoperfusion of the kidney secondary to renal vasoconstriction. The pathogenesis of hepatorenal syndrome is not completely known but it is thought to be the extreme manifestation of the underfilling of the arterial circulation secondary to an arterial vasodilation, located mainly in the splanchnic circulation. Recently, a new definition and diagnostic criteria of hepatorenal syndrome have been proposed, which has stimulated research in this field. Prognosis of patients with hepatorenal syndrome is very poor. Liver transplantation is the only effective treatment but it is not applicable in all patients due to short survival. New therapies developed during the last few years, such as the use of systemic vasoconstrictors or transjugular intrahepatic portosystemic shunts appear promising, but their usefulness should be evaluated in prospective investigations. PMID:9308128

  13. Isaac's Syndrome

    MedlinePLUS

    ... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

  14. Hyperventilation syndrome

    Microsoft Academic Search

    Richard E. Brashear

    1983-01-01

    The hyperventilation syndrome, primary alveolar hyperventilation and respiratory alkalosis accompanied by various signs and\\u000a symptoms, occurs in about 6–11% of the general patient population. The causes of hyperventilation are: 1) organic and physiologic\\u000a and, 2) psychogenic (emotional\\/habit). Hyperventilation syndrome excludes hyperventilation that is compensatory or caused\\u000a by organic or physiologic factors. Acute or chronic anxiety is usually considered the predominant

  15. Alagille syndrome.

    PubMed Central

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

  16. Tics and Tourette Syndrome

    MedlinePLUS

    MENU Return to Web version Tics and Tourette Syndrome Overview What is Tourette syndrome? Tourette syndrome is a type of tic disorder. Children who have Tourette syndrome will repeat both movements ...

  17. What Are Myelodysplastic Syndromes?

    MedlinePLUS

    ... How many people get myelodysplastic syndromes? What are myelodysplastic syndromes? Myelodysplastic syndromes (MDS) are conditions that occur when ... of blood vessels caused by cuts or bruises. Myelodysplastic syndromes In MDS, some of the cells in the ...

  18. Myelodysplastic Syndromes (MDS)

    MedlinePLUS

    ... syndromes (MDS) Email this page Print this page Myelodysplastic syndromes (MDS) Myelodysplastic syndromes (MDS) are a group of diseases that affect ... other types are severe and life-threatening. Tweet Myelodysplastic syndromes (MDS) Symptoms of MDS How transplant can treat ...

  19. Tethered Spinal Cord Syndrome

    MedlinePLUS

    NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  20. Down Syndrome (For Parents)

    MedlinePLUS

    About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  1. Carpal Tunnel Syndrome

    MedlinePLUS

    ... important to know the difference. What is carpal tunnel syndrome? Carpal tunnel syndrome is possibly the most ... permanent nerve and muscle damage. What causes carpal tunnel syndrome? Carpal tunnel syndrome may occur in patients ...

  2. Carpal Tunnel Syndrome

    MedlinePLUS

    NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Organizations Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition ...

  3. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  4. [POEMS syndrome].

    PubMed

    Rose, C; Mahieu, M; Hachulla, E; Facon, T; Hatron, P Y; Bauters, F; Devulder, B

    1997-07-01

    POEMS syndrome is an acronym defined by Bardwick (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal component and Skin changes). Other various clinical and biological features are reported: edema, cachexia, microangiopathic glomerulopathy, most rarely pulmonary hypertension, cutaneous necrosis. Thrombocytosis or polycythemia may be a prominent feature. POEMS syndrome is sometimes associated with lymphoproliferative disorder. Castelman-like disease is frequently observed as pathologic findings on lymph nodes. Distinction between POEMS syndrome and osteosclerotic myeloma is delicate. The rate of the monoclonal protein is modest-always less than 30 g/L-and is almost of the lambda light chain class. In contrast to multiple myeloma this syndrome is rarely associated with hypercalcemia, skeletal fracture, renal involvement and increasing of M component during evolution. Bone marrow plasmocytosis is usually less than 15% and the kinetic phenotype and genetic characteristics of the plasma cell remain those found in monoclonal gammopathy of undetermined significance. The pathophysiology of this syndrome remains largely unknown but overproduction of pro-inflammatory cytokines are reported, especially TNF alpha, IL-6 and IL-1 beta. Some clinical manifestations seem to be cytokine related. Polyneuropathy and cachexia are the main cause of death. A part corticosteroid and cure of solitary bone lesion, treatment is disappointing and survival is 60% at five years. PMID:9255373

  5. Crush syndrome.

    PubMed

    Gonzalez, Dario

    2005-01-01

    The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

  6. [Kallmann syndrome].

    PubMed

    Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J

    2011-10-01

    The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848

  7. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  8. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  9. Serotonin syndrome.

    PubMed

    Bodner, R A; Lynch, T; Lewis, L; Kahn, D

    1995-02-01

    We describe a patient treated with trazodone, isocarboxazid, and methylphenidate hydrochloride who developed confusion, agitation, poor concentration, rigidity, myoclonus, involuntary movements, orthostatic hypotension, and hyperreflexia. CK was normal, and the syndrome resolved spontaneously over 12 hours. The serotonin syndrome occurs following the use of serotomimetic agents (serotonin reuptake inhibitors, tricyclic and tetracyclic antidepressants, tryptophan, 3,4-methylenedioxy-methamphetamine, dextromethorphan, meperidine, S-adenosylmethionine) alone or in combination with monoamine oxidase inhibitors. It is characterized by various combinations of myoclonus, rigidity, hyperreflexia, shivering, confusion, agitation, restlessness, coma, autonomic instability, low-grade fever, nausea, diarrhea, diaphoresis, flushing, and rarely, rhabdomyolysis and death. PMID:7854515

  10. Marfan Syndrome

    MedlinePLUS

    ... that determine whether you have blue eyes or brown or whether you look like your mom or your dad. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases. In most cases, the gene change for Marfan syndrome runs in families, getting passed down to children ...

  11. Hypereosinophilic syndromes

    Microsoft Academic Search

    Florence E Roufosse; Michel Goldman; Elie Cogan

    2007-01-01

    Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109\\/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to

  12. Aicardi Syndrome

    MedlinePLUS

    ... seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is ... callosum ) that links the two halves of the brain (2) infantile spasms (a ...

  13. Exfoliation Syndrome

    Microsoft Academic Search

    Robert Ritch; Ursula Schlötzer-Schrehardt

    2001-01-01

    Exfoliation syndrome (XFS) is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulates in many ocular tissues. Its ocular manifestations involve all of the structures of the anterior segment, as well as conjunctiva and orbital structures. Glaucoma occurs more commonly in eyes with XFS than in those without it; in fact, XFS has recently been recognized

  14. Wells syndrome

    PubMed Central

    Bansal, Manish; Rai, Tulika; Pandey, Shyam S.

    2012-01-01

    Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation. PMID:23189251

  15. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  16. Rud's syndrome.

    PubMed

    Pavani, K; Reddy, B S N; Singh, B Amar

    2014-04-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  17. Rud's syndrome

    PubMed Central

    Pavani, K.; Reddy, B. S. N.; Singh, B. Amar

    2014-01-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  18. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104

  19. Why Metabolic Syndrome Matters

    MedlinePLUS

    Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  20. Syndrome in question. MAGIC syndrome.

    PubMed

    Nascimento, Ana Cláudia Mendes do; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  1. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  2. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  3. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  4. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... help their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French ... people with TS. Back Continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a ...

  5. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  6. Dental Issues & Down Syndrome

    MedlinePLUS

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  7. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  8. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  9. What Is Marfan Syndrome?

    MedlinePLUS

    ... Syndrome PDF Version Size: 62 KB Audio Version Time: 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to-Read Series of Publications for the Public Marfan syndrome is ...

  10. Polycystic Ovary Syndrome

    MedlinePLUS

    ... Another condition that is associated with PCOS is metabolic syndrome . This syndrome contributes to both diabetes and heart ... the levels of glucose (sugar) in the blood. Metabolic Syndrome: Combination of factors that contribute to both diabetes ...

  11. Metabolic Syndrome (For Parents)

    MedlinePLUS

    ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ... chemicals in the body fail to interact properly), metabolic syndrome describes a cluster of risk factors that put ...

  12. Fragile X Syndrome

    MedlinePLUS

    ... Was Just Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  13. Fragile X Syndrome Overview

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Fragile X syndrome? Fragile X syndrome is a genetic disorder that ...

  14. Carpal Tunnel Syndrome

    MedlinePLUS

    ... key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median ... or traumatized. What are the symptoms of carpal tunnel syndrome? Symptoms usually start gradually, with frequent burning, ...

  15. Kallmann syndrome

    Microsoft Academic Search

    Catherine Dodé; Jean-Pierre Hardelin; J-P Hardelin

    2009-01-01

    The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations

  16. Hepatorenal syndrome.

    PubMed

    Turban, Sharon; Thuluvath, Paul J; Atta, Mohamed G

    2007-08-14

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review. PMID:17696221

  17. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  18. Antisynthetase syndrome

    Microsoft Academic Search

    Agathe Imbert-Masseau; Mohamed Hamidou; Christian Agard; Jean-Yves Grolleau; Pascal Chérin

    2003-01-01

    Seven autoantibodies directed against synthetases have been identified to date, the best known being anti-Jo1. Synthetases play a vital role in protein synthesis by catalyzing the acetylation of transfer RNAs (tRNAs). The most common form of antisynthetase syndrome is characterized by anti-Jo1 production, interstitial lung disease (ILD), inflammatory muscle disease, and, in many cases, fever, polyarthritis, Raynaud’s phenomenon, and thick

  19. Masquerade Syndromes

    Microsoft Academic Search

    Shouvik Saha; Elizabeth M. Graham

    The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

  20. Maffucci Syndrome

    Microsoft Academic Search

    Leida B. Rozeman; Yvonne M. Schrage; Judith V. M. G. Bovée; Pancras C. W. Hogendoorn

    Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with\\u000a multiple haemangiomas and\\/or lymphangiomas, as described by (1881). Both lesions tend to have an unilateral predominance (Albregts and Rapini 1995). Enchondromas are benign cartilaginous neoplasms and occur mainly in the tubular bones of hands and feet. Their presence\\u000a in long bones can result in

  1. Learning about Fragile X Syndrome

    MedlinePLUS

    ... genetic terms used on this page. Learning About Fragile X Syndrome What is fragile X syndrome? What are the ... Additional Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form ...

  2. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  3. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  4. Heterotaxy Syndrome

    PubMed Central

    2011-01-01

    Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Treatment of patients with isomerism is determined by the nature and severity of the associated cardiac and extracardiac lesions. Most cardiac operations for patients with isomerism are palliative in nature, since normal anatomy is rarely achieved and mortality rates remain high for patients with heterotaxy syndrome. Patients with left isomerism in general have less severe cardiac malformations than those with right isomerism and, hence, more chance of biventricular repair. For almost all patients with right isomerism, and for many with left isomerism, biventricular repair will not be feasible, and all palliative protocols are then staging procedures prior to a Fontan-type repair. Recent advances in medical management, and improvements in surgical techniques have resulted in improved survival for these patients, and the surgical outcomes are comparable to those with Fontan circulation irrespective of the presence or absence of heterotaxy. PMID:21731561

  5. Jacobsen syndrome

    PubMed Central

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-01-01

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

  6. Behçet's syndrome.

    PubMed

    Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan

    2013-05-01

    Behçet's syndrome (BS) shows a peculiar distribution, with a much higher prevalence in countries along the ancient Silk Road compared with rest of the world. BS also seems to follow a more severe course in ethnic groups with higher prevalence. Diagnosis depends on clinical findings. Criteria sets may not help in patients with less frequent types of involvement. Management strategies should be modified according to the age and sex of the patient and the organs involved. Being a serious health problem in endemic areas, BS also attracts global attention as a model to study inflammatory diseases of unknown cause. PMID:23597962

  7. Fragile X syndrome

    MedlinePLUS

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... to affect them more severely. You can have fragile X syndrome even if your parents do not have it. ...

  8. Restless Legs Syndrome

    MedlinePLUS

    NINDS Restless Legs Syndrome Information Page Condensed from Restless Legs Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder ...

  9. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  10. [The shaken baby syndrome].

    PubMed

    Aguilar Serrano, Alicia; Reyes Morillas, María; Ráez Liébanas, Andrés; Ruiz Rodríguez, Concepción

    2006-11-01

    The shaken baby syndrome is caused by a violent jerk or shaking of a child's or infant's head; on some occasions this syndrome is defined as a form of child abuse. This relatively unknown syndrome can produce multiple lesions in the victim; these lesions are not evident externally in the majority of cases. The authors have reviewed numerous articles so that they can define this syndrome's basic characteristics which bear much weight in the early detection of this syndrome and moreover on adequate prevention of this syndrome by health professionals since this syndrome may cause grave and permanent repercussions in the child which undergoes it. PMID:17201333

  11. Hepatopulmonary Syndrome.

    PubMed

    Lv, Yong; Fan, Daiming

    2015-07-01

    Hepatopulmonary syndrome (HPS) is a pulmonary complication observed in patients with chronic liver disease and/or portal hypertension, attributable to an intrapulmonary vascular dilatation that may induce severe hypoxemia. Microvascular dilation and angiogenesis in the lung have been identified as pathologic features that drive gas exchange abnormalities in experimental HPS. Pulse oximetry is a useful screening test for HPS, which can guide subsequent use of arterial blood gases. Contrast-enhanced echocardiography, perfusion lung scanning, and pulmonary arteriography are three currently used diagnostic imaging modalities that identify the presence of intrapulmonary vascular abnormalities. The presence of HPS increases mortality and impairs quality of life, but is reversible with liver transplantation. No medical therapy is established as effective for HPS. At the present time, liver transplantation is the only available treatment for HPS. PMID:25732713

  12. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  13. Goldenhar syndrome.

    PubMed

    Hossain, M M; Akhonda, A H; Islam, M F; Akonjee, A R

    2012-07-01

    A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex is central, steady and maintained. On examination whitish growth on limbus, hard in consistency, non mobile, non tender, fixed with underlying structure both eyes. There are pre auricular skin tags. There is no cardiac abnormality and ENT consultation done reveals normal except pre-auricular ear tags. X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome. PMID:22828557

  14. [Marfan syndrome].

    PubMed

    Jondeau, Guillaume; Delorme, Gabriel; Guiti, Chabnam

    2002-05-15

    Marfan syndrome is a genetic illness, generally linked to an anomaly in fibrillin type 1, which is transmitted in an autosomally dominant fashion. Its diagnosis is sometimes difficult and should always be evoked in the face of a non-atheromatous aneurysm of the ascending aorta, lead to family screening in the search for aneurysms in any relatives, and an ophthalmological and rheumatological examination in the search for extracardiac signs. The diagnosis made, the dilatation of the aorta can be limited by proscribing violent sports and prescribing beta-blockers. The diameter of the ascending aorta should be measured with an annual ultrasound in order to propose a surgical replacement of the ascending aorta, before a complication (above all aortic dissection) arises. PMID:12107930

  15. Fragile X Syndrome What is fragile X syndrome?

    E-print Network

    Bordenstein, Seth

    Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common inherited, it becomes inactive and does not make the protein. This lack of protein results in fragile X syndrome. Some fragile X syndrome. What are the effects of fragile X syndrome? Identifiable physical characteristics

  16. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  17. Schimmelpenning syndrome.

    PubMed

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Ventura, Filipa; Brito, Celeste

    2013-10-01

    Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions. PMID:24139367

  18. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  19. Landau-Kleffner Syndrome

    MedlinePLUS

    ... Syndrome? Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and ...

  20. Down Syndrome: Education

    MedlinePLUS

    ... Mission & Vision NDSS History Our Team Media Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and secondary schooling, and college and postsecondary options for students with Down syndrome. Education & Down Syndrome ...

  1. Alport Syndrome Foundation

    MedlinePLUS

    ... I really did not worry much about it. John‘s Story John was diagnosed with Alport Syndrome when he was ... typical with many families affected by Alport Syndrome, John is not the only family member with the ...

  2. Yellow nail syndrome (image)

    MedlinePLUS

    Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...

  3. Proteus Syndrome Foundation

    MedlinePLUS

    Welcome 11/12/2014 LAUNCH: Proteus Foundation Patient Contact Registry. READ MORE. Proteus Syndrome Foundation The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the ...

  4. The SAPHO syndrome.

    PubMed

    Vohradníková, O; Záruba, F; Polásková, S; Hoza, J; Leiská, A

    1993-06-01

    We report two cases of the SAPHO syndrome (synovitis, acne conglobata, pustulosis palmoplantaris, hyperostosis and osteitis). This syndrome has been published in the pediatric and rheumatological literature in recent years. PMID:8105621

  5. Lennox-Gastaut Syndrome

    MedlinePLUS

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  6. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  7. Toxic Shock Syndrome

    MedlinePLUS

    ... about it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's ... period, you may have heard frightening stories about toxic shock syndrome (TSS), a serious illness originally linked ...

  8. Riley-Day syndrome

    MedlinePLUS

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  9. Obesity Hypoventilation Syndrome

    MedlinePLUS

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  10. Cardiopulmonary Syndromes (PDQ®)

    Cancer.gov

    Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.

  11. Immune Reconstitution Syndrome

    MedlinePLUS

    ... IMMUNE RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... in the first two months after starting HIV therapy. This condition is sometimes called Immune ... WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  12. Adult fragile X syndrome

    Microsoft Academic Search

    R. D. Rudelli; W. T. Brown; K. Wisniewski; E. C. Jenkins; M. Laure-Kamionowska; F. Connell; H. M. Wisniewski

    1985-01-01

    Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported.

  13. Prader-Willi syndrome

    MedlinePLUS

    Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most persons with Prader-Willi syndrome are missing the genetic material on part ...

  14. Dubin-Johnson syndrome

    MedlinePLUS

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  15. Carpal tunnel syndrome

    MedlinePLUS

    Carpal tunnel syndrome is a condition in which there is excessive pressure on the median nerve. This is the ... and movement to parts of the hand. Carpal tunnel syndrome can lead to numbness, tingling, weakness, or ...

  16. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  17. Autoimmune Lymphoproliferative Syndrome (ALPS)

    MedlinePLUS

    ... Syndrome (ALPS) Top Banner Content Area Skip Content Marketing Share this: Main Content Area Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of ...

  18. Brown-Sequard Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Brown-Sequard Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Brown-Sequard Syndrome? Brown-Sequard syndrome (BSS) is a rare neurological ...

  19. Families and Fragile Syndrome

    E-print Network

    Rau, Don C.

    Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency is designed to give you and your family some general information about Fragile X syndrome, its causes, its or actors. They are individuals with Fragile X syndrome and their families. Through these images, you'll see

  20. Restless Legs Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong ... treatments. Rate This Content: NEXT >> November 1, 2010 Restless Legs Syndrome Clinical Trials Clinical trials are research studies that ...

  1. The lax eyelid syndrome.

    PubMed Central

    van den Bosch, W A; Lemij, H G

    1994-01-01

    The floppy eyelid syndrome (FES) was first described in middle aged, obese men. In later descriptions, age and sex were not specifically mentioned. Associations of FES with various other syndromes have been described. The authors question whether all these cases represent the same, single, syndrome. They suggest that a clinical picture similar to FES may occur in lax upper eyelids of any cause. Four such cases are reported here. The authors therefore coin the more general term 'lax eyelid syndrome'. They suggest using the term 'floppy eyelid syndrome' uniquely for patients with the classic signs and symptoms. Images PMID:7947544

  2. Cyclic vomiting syndrome plus.

    PubMed

    Boles, Richard G; Powers, Amy L R; Adams, Kathleen

    2006-03-01

    Cyclic vomiting syndrome, which is characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately childhood condition. Approximately 25% of cases have coexisting neuromuscular disease manifestations (cyclic vomiting syndrome plus). To determine whether patients with cyclic vomiting syndrome and neuromuscular disease represent a distinct subentity within cyclic vomiting syndrome, a clinical interview was conducted regarding 80 randomly ascertained sufferers of cyclic vomiting syndrome from a disease association database. Cyclic vomiting syndrome plus and "cyclic vomiting syndrome minus," herein defined as the presence of at least two and zero neuromuscular disease manifestations, were present in 23 and 44 subjects, respectively. Neuromuscular disease manifestations, including cognitive disorders, skeletal myopathy, cranial nerve dysfunction, and seizure disorders, were found to statistically cluster together among the same subjects. In addition, subjects with cyclic vomiting syndrome with neuromuscular disease had an earlier age at onset for vomiting episodes and a three- to eightfold statistically increased prevalence for certain dysautonomia-related (migraine, chronic fatigue, neurovascular dystrophy) and constitutional (growth retardation and birth defects) disorders. However, subjects with cyclic vomiting syndrome with and without neuromuscular disease were equally likely to have a sibling affected with neuromuscular disease manifestations. We conclude that cyclic vomiting syndrome plus, although likely not genetically distinct from cyclic vomiting syndrome minus, represents a distinct phenotypic entity that predicts an earlier onset of disease and increased comorbidity with a distinct list of medical conditions, possibly owing to a higher degree of mitochondrial dysfunction. PMID:16901417

  3. Behcet's Syndrome.

    PubMed

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-01

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).? inhibitors, among others. In this article, we review the salient clinical studies for each drug class along with important side effects as well as drug toxicity monitoring. Management of the patient with BS is complex and oftentimes requires a multidisciplinary approach. We discuss strategies to assess and stratify patients based on clinical manifestations and disease severity. A summary of drug toxicities as they relate to the aforementioned pharmacological agents, as well as guidelines regarding vaccinations in this patient population, are offered. Finally, we conclude with treatment strategies for the common manifestations of BS along with a discussion of the management of thrombotic disease in these patients. PMID:23153327

  4. Gitelman's syndrome first diagnosed as Bartter's syndrome.

    PubMed

    Tsuchiya, H; Kamoi, K; Soda, S; Sasaki, H; Kobayashi, K; Hayashi, M

    2001-10-01

    A 29-year-old man, who had been treated with potassium, spironolactone and indomethacin for over 9 years, was admitted because of nausea, vomiting, diarrhea and tetany manifestation. At the age of 20, he had been diagnosed as having Bartter's syndrome according to the criteria of the Japanese Ministry of Health and Welfare. Findings on admission were hypokalemia, hypomagnesemia and hypocalciuria. Renal distal fractional reabsorption rates of sodium, chloride and calcium were markedly decreased by administration of furosemide but there was no obvious change with administration of thiazide. These findings indicate that the patient had Gitelman's syndrome rather than Bartter's syndrome. PMID:11688824

  5. [Tic syndrome].

    PubMed

    Czapli?ski, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to streptococcal infection in the pathogenesis of tics. The differential diagnosis of tics is reviewed in detail. Above all tics represent a social disability. The ability to tolerate tics varies greatly from one individual to another, and the need for treatment is better defined by the patient than by the physician. Mild cases do not need be treated. Ideally, management should be multidisciplinary and can range from educative to supportive means or to intricate pharmacological interventions. The major form of treatment of the motor or vocal symptoms continues to be based on high-potency "typical" neuroleptics (tiaprid, pimozide, haloperidol), which induce a wide range of potentially serious side effects. In everyday practice we prefer to start with an "atypical" neuroleptic drug--for example, olanzapin (5-10 mg/day), risperidone or clozapine. Other drugs, such as clonidin or pergolid are widely used but their efficiency is still questionable. SSRIs (sertaline, citalopram, fluoxetin, fluvoxamine) or other antidepressants (clomipramine) have been used in treatment of psychiatric comorbid conditions, too. Botulinum toxin injections have proved useful in tics, targeting at the symptoms of blepharospasm, in neck and facial muscles. PMID:12185806

  6. Angelman Syndrome What is Angelman syndrome?

    E-print Network

    Palmeri, Thomas

    syndrome also will show signs of autism spectrum disorder. Outbursts to be a constant state, and social smiling may be prevalent. Many individuals are very with autism spectrum disorders face, so membership in a local chapter of The Arc

  7. West syndrome associated with mosaic Down syndrome.

    PubMed

    Kajimoto, Madoka; Ichiyama, Takashi; Akashi, Akiko; Suenaga, Naoko; Matsufuji, Hironori; Furukawa, Susumu

    2007-08-01

    We report a girl with West syndrome associated with mosaic Down syndrome. She had repetitive tonic spasms at 6 months and an electroencephalography (EEG) showed hypsarrhythmia. Her facial appearance was normal and she had no minor anomalies. Her karyotype was mosaic(46,XX/47,XX,+21). Adrenocorticotropin (ACTH) therapy was effective, and her developmental quotient was 76 at 17 months. This report re-emphasize that chromosomal analysis is recommended for epileptic patients with infantile onset when the cause is unclear. PMID:17307326

  8. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    Microsoft Academic Search

    Lorenzo Lo Muzio

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1\\/57,000 to 1\\/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and

  9. Hamartomatous polyposis syndromes

    PubMed Central

    2013-01-01

    Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation. PMID:23724922

  10. Inherited Bone Marrow Failure Syndromes

    MedlinePLUS

    What are the IBMFS disorders? Amegakaryocytic Thrombocytopenia Diamond-Blackfan Anemia Dyskeratosis Congenita Fanconi Anemia Pearson Syndrome Severe Congenital Neutropenia Shwachman-Diamond Syndrome Thrombocytopenia Absent Radii Other Bone Marrow Failure Syndromes Amegakaryocytic ...

  11. Genetics Home Reference: Tourette syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Tourette syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed May 2013 What is Tourette syndrome? Tourette syndrome is a complex disorder characterized ...

  12. Gilles de la Tourette syndrome

    MedlinePLUS

    Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. It ... norepinephrine) that help nerve cells signal one another. Tourette syndrome can be either severe or mild. Many ...

  13. Genetics Home Reference: Arts syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Arts syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed September 2014 What is Arts syndrome? Arts syndrome is a disorder that causes ...

  14. Genetics Home Reference: Wagner syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Wagner syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed July 2014 What is Wagner syndrome? Wagner syndrome is a hereditary disorder that ...

  15. Toxic Shock Syndrome (For Parents)

    MedlinePLUS

    ... Sports: Keeping Kids Safe Concussions: What to Know Toxic Shock Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > ... and Treatment When to Call the Doctor About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a ...

  16. Genetics Home Reference: Moebius syndrome

    MedlinePLUS

    ... people use for Moebius syndrome? congenital facial diplegia congenital ophthalmoplegia and facial paresis Möbius sequence Mobius syndrome Moebius ... with understanding Moebius syndrome? autism ; brainstem ; cleft palate ; congenital ; cranial nerves ; ... palate ; pattern of inheritance ; risk factors ; spectrum ; sporadic ; ...

  17. Genetics Home Reference: Job syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Job syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed February 2008 What is Job syndrome? Job syndrome is a condition that affects ...

  18. Genetics Home Reference: Crouzon syndrome

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Crouzon syndrome On this page: Description ... What is Crouzon syndrome? Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull ...

  19. Thoracic outlet syndromes

    Microsoft Academic Search

    Harold C. Urschel; Amit Patel

    2003-01-01

    Opinion statement  The clinical presentation of thoracic outlet syndrome depends on which anatomic structure is compressed in the area of the\\u000a thoracic outlet (eg, the axillary-subclavian artery, vein [Paget-Schroetter syndrome, or effort thrombosis], brachial plexus,\\u000a or the sympathetic nerves). The clinical syndrome may be isolated to one or a mixture of these compressed anatomic structures.\\u000a Although there are multiple compressive forces,

  20. [Paraneoplastic syndromes: a review].

    PubMed

    Berardi, R; Grilli, G; Romagnoli, E; Saladino, T; Freddari, F; Tamburrano, T; Galizia, E; Carbonari, G; Mariani, C; Braconi, C; Pierantoni, C; Battelli, N; Scartozzi, M; Cascinu, S

    2005-01-01

    Modern oncology often obtains good results against earlier neoplasms, whilst it's still in difficulties against the advanced ones. The knowledge of paraneoplastic syndromes is crucial both to cure patients and to do an earlier diagnosis. When we recognize a paraneoplastic syndrome that comes before the clinic beginning of a neoplasm, perhaps we save a life. This review discusses all the main paraneoplastic syndromes, focusing mainly on their clinical aspect and reminding the most commonly associated cancers. PMID:16463565

  1. Sturge–Weber syndrome

    Microsoft Academic Search

    C. Di Rocco; G. Tamburrini

    2006-01-01

    Introduction  Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75–90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that

  2. Capgras' syndrome with organic disorders.

    PubMed Central

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  3. Chromosome instability syndromes

    SciTech Connect

    NONE

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  4. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients. PMID:12876834

  5. Alcohol withdrawal syndrome

    Microsoft Academic Search

    Allister Vale

    2008-01-01

    Alcohol withdrawal syndrome is a common medical problem and occurs within hours of alcohol cessation or reduction. It is characterized by autonomic hyperactivity, tremor, anxiety, restlessness seizures, hallucinations and delirium. The alcohol withdrawal syndrome may develop in patients admitted to hospital for an unrelated illness (e.g. for an operation) or patients may present in a confused state to the Emergency

  6. 6 Short bowel syndrome

    Microsoft Academic Search

    A. D. Lander

    1998-01-01

    Short bowel syndrome has significant morbidity and is potentially lethal especially when intestinal loss is extensive. The pathophysiology of short bowel syndrome, its aetiology, prognosis and our understanding of the mechanisms of adaptation are reviewed. Management by a multi-disciplinary nutritional care team is advocated and should be directed to the maintenance of growth and development, the promotion of intestinal adaptation,

  7. Equine Metabolic Syndrome

    Microsoft Academic Search

    Nicholas Frank

    2009-01-01

    Equine metabolic syndrome (EMS) is important because of its association with laminitis. Obesity and insulin resistance are two important components of EMS, and the underlying cause of this syndrome is likely to be enhanced metabolic efficiency. Affected horses are often referred to as “easy keepers” because they require fewer calories to maintain body condition, and enhanced metabolic efficiency is an

  8. The SAHA Syndrome

    Microsoft Academic Search

    Constantin E. Orfanos; YaeI D. Adler; Christos C. Zouboulis

    2000-01-01

    The presence of seborrhoea, acne, hirsutism and alopecia in women has first been summarized as SAHA syndrome in 1982 and can be associated with polycystic ovary syndrome, cystic mastitis, obesity and infertility. In 1994, the association of these androgen-dependent cutaneous signs, was classified according to their etiology into four types: (1) idiopathic, (2) ovarian, (3) adrenal, and (4) hyperprolactinemic SAHA.

  9. Congenitally palliated scimitar syndrome.

    PubMed

    Cantinotti, Massimiliano; Giordano, Raffaele; Spadoni, Isabella

    2014-10-24

    We present a rare case of scimitar syndrome in which the scimitar vessel, collecting all the right pulmonary veins, was stenotic at its junction, with the inferior caval vein and two anomalous vessels, connecting to the same venous collector, draining most of the flow to the left atrium. We arbitrarily defined this rare anatomical variant as a congenitally palliated scimitar syndrome. PMID:25341362

  10. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  11. [Children with Asperger syndrome].

    PubMed

    Bjørklund, G

    1998-04-20

    In 1994 Hans Asperger (1906-80), an Austrian physician, described a group of children with impaired social interaction and communication abilities. The name of this disorder today is Asperger's syndrome, and it is currently defined under the category of pervasive developmental disorder in DSM-IV and ICD-10. In this article the following aspects of Asperger's syndrome are focused on: personality, epidemiology, etiology, examination, differential diagnosis, management and prognosis. The article is based on a literature study. Asperger's syndrome seems to be considerably more common than "classic" autism. The syndrome is much more common in boys than in girls. The clinical characteristics of Asperger's syndrome are probably influenced by many factors, including organic and genetic factors. Asperger's syndrome is the term applied to the highest functioning end of the autism scale. There are several commonalities between Asperger's syndrome and autism, namely impairment of social interaction and communication abilities, and range of interests and activities. Differences exist primarily in the degree of impairment in language and cognitive development. Differential diagnosis, examination and management are discussed. There is a need for further research. It is important that the diagnostic criteria for Asperger's syndrome are as uniform as possible, and that they do not overlap with infantile autism. PMID:9615585

  12. La night eating syndrome

    Microsoft Academic Search

    Lucia Godini; Giovanni Castellini; Carolina Lo Sauro; Valdo Ricca; Carlo Faravelli

    IntroductionThe night eating syndrome (NES) is a disorder that has been the object of interest in the scientific community only in recent years. For this reason, there are no universally accepted diagnostic criteria for this syndrome, and data in the literature on NES are often discordant. We conducted a critical review of the literature, which focused on the epidemiologic, psychopathological,

  13. White-Nose Syndrome

    NSDL National Science Digital Library

    Douglas Stemke (University of Indianapolis; )

    2011-04-28

    The Indiana Department of Natural Resource posted cave access restrictions sign at Clifty Falls State Park in southern Indiana in response to the lethal threat posed by White-Nose Syndrome to various cave-inhabiting bat species. White-Nose Syndrome is a bat disease that is still not well understood but is presumptively caused by the associated fungus Geomyces destructans.

  14. Brugada syndrome in children.

    PubMed

    Crosson, Jane E; Nies, Melanie

    2015-02-01

    Brugada syndrome is an inherited arrhythmia associated with characteristic ST elevation in the right precordial leads and sudden cardiac death. The average age of sudden cardiac death is 40 years; reported pediatric cases remain rare. Genetic testing and increased disease awareness may result in many more children being diagnosed with Brugada syndrome. PMID:25583159

  15. The CHILD syndrome

    Microsoft Academic Search

    R. Happle; H. Koch; W. Lenz

    1980-01-01

    The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of

  16. Cauda equina syndrome

    Microsoft Academic Search

    Judita Orendá?ová; Dáša ???žková; Jozef Kafka; Nadežda Luká?ová; Martin Maršala; Igor Šulla; Jozef Maršala; Nobuo Katsube

    2001-01-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory

  17. Cushing's Syndrome in Children

    MedlinePLUS

    ... www.CSRF.net Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  18. Down Syndrome and Stuttering

    MedlinePLUS

    Tweet Down's Syndrome Parents of Preschoolers Parents of School-Age Children Just for Kids Teens Adults Teachers Speech-Language Pathologists ... leaflet is designed to help people who have Down’s syndrome, or who care for and work with people ...

  19. Classification of Malabsorption Syndromes

    Microsoft Academic Search

    Massimo Montalto; Luca Santoro; Ferruccio D’Onofrio; Valentina Curigliano; Dina Visca; Antonella Gallo; Giovanni Cammarota; Antonio Gasbarrini; Giovanni Gasbarrini

    2008-01-01

    Malabsorption syndrome is usually defined as the complex of symptoms secondary to maldigestion and\\/or malabsorption, realizing when the extension of the disease exceeds the ability of intestine compensation. Several conditions have been recognized as being responsible for this syndrome. Up to now, different criteria have been used to order them, but a definitive classification is still not available because of

  20. Sirenomelia: the mermaid syndrome

    Microsoft Academic Search

    I. V. Meisheri; V. S. Waigankar; M. P. Patel; A. Naregal; S. Ramesh; P. Muthal

    1996-01-01

    Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

  1. Focal Cortical Atrophy Syndromes

    Microsoft Academic Search

    Sandra E. Black

    1996-01-01

    The topography of Alzheimer's disease (AD) and its effects on language, perception, and praxis are briefly reviewed as background to the focal cortical atrophy syndromes, including primary progressive aphasia (PPA), posterior cortical atrophy (PCA), and corticobasal degeneration (CBD). Simplistically speaking, there are two main pathological and neuroimaging phenotypes associated with these syndromes. One is frontotemporal degeneration (FTD), a nonspecific spongiform

  2. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  3. Polycystic Ovary Syndrome

    MedlinePLUS

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts ( ... who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: Infertility Pelvic pain Excess ...

  4. Restless legs syndrome

    MedlinePLUS

    Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get ... There is no specific test for restless legs syndrome. Your health ... do a physical exam. You may have blood tests and other exams ...

  5. Streptococcal Toxic Shock syndrome.

    PubMed

    Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

    2014-09-01

    Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control. PMID:24297338

  6. Unmasking Diogenes Syndrome.

    PubMed

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual "mask" of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  7. Sun and Sjogren's Syndrome

    MedlinePLUS

    ... the skin. Skin rashes and disease flares in Sjögren’s syndrome (SS) patients can result as well as ocular sensitivity ... Health Care Spending Account. For more information on Sjögren’s syndrome, visit the SSF Web site at www.sjogrens. ...

  8. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning. PMID:18417316

  9. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

  10. The management of Sjögren's syndrome

    Microsoft Academic Search

    Clio P Mavragani; Niki M Moutsopoulos; Haralampos M Moutsopoulos

    2006-01-01

    Sjögren's syndrome is a chronic autoimmune disorder, characterized by lymphocytic infiltration and malfunction of the exocrine glands, resulting in dry mouth and eyes. The syndrome can present either alone (primary Sjögren's syndrome) or in the context of an underlying connective tissue disease (secondary Sjögren's syndrome). Systemic features, resulting from cutaneous, respiratory, renal, hepatic, neurologic, and vascular involvement, often occur. Two

  11. Abdominal obesity and metabolic syndrome

    Microsoft Academic Search

    Jean-Pierre Després; Isabelle Lemieux

    2006-01-01

    Metabolic syndrome is associated with abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. Proposed criteria for identifying patients with metabolic syndrome have contributed greatly to preventive medicine, but the value of metabolic syndrome as a scientific concept remains controversial. The presence of metabolic syndrome alone cannot predict global cardiovascular disease

  12. Isolated central vestibular syndrome.

    PubMed

    Kim, Sung-Hee; Park, Seong-Ho; Kim, Hyo-Jung; Kim, Ji-Soo

    2015-04-01

    Isolated vestibular syndrome may occur all along the vestibular pathways from the peripheral labyrinth to the brain. By virtue of recent developments in clinical neurotology and neuroimaging, however, diagnosis of isolated central vestibulopathy is increasing. Here, we review five distinct syndromes of isolated central vestibular syndrome from lesions restricted to the vestibular nuclei, the nucleus prepositus hypoglossi, the flocculus, the tonsil, and the nodulus, and introduce a new vestibular syndrome from isolated involvement of the inferior cerebellar peduncle. Decreased responses to head impulses do not exclude a central lesion as a cause of isolated vestibular syndrome. Brain imaging, including diffusion-weighted magnetic resonance imaging (MRI), may be falsely negative during the acute phase in patients with isolated vestibular syndrome because of a stroke. Central signs should be sought carefully in patients with isolated vertigo, even when the patients show the features of peripheral vestibulopathy and negative MRIs. Recognition of these isolated central vestibular syndromes would aid in defining the lesions responsible for various vestibular manifestations in central vestibulopathy. PMID:25735822

  13. Williams Syndrome What causes Williams syndrome?

    E-print Network

    Palmeri, Thomas

    are missing a small piece of chromosome 7. This rare genetic disorder occurs spontaneously in 1 out of every 7 in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all thinking--teach skills for reframing negative thoughts. · Alleviate anxieties--reassure and aid transition

  14. Syndrome In Question*

    PubMed Central

    Maldonado, Gabriela; Peruzzo, Juliano; Tubone, Mariana Quirino; Reinehr, Clarissa Prieto Herman; Escobar, Gabriela Fortes

    2015-01-01

    The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. PMID:25672315

  15. National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium

    E-print Network

    National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium Linking Syndrome Society #12;Today's Presentation: Down Syndrome Advocacy, Action & System Change · Why Advocate · Down syndrome research policy landscape · How to advocate and get involved in our efforts

  16. Recurrent Rapunzel syndrome.

    PubMed

    Tiwary, S K; Kumar, S; Khanna, R; Khanna, A K

    2011-06-01

    Rapunzel syndrome is a rare condition that occurs when gastric trichobezoar extends beyond the pylorus and into the bowel. Recurrent Rapunzel syndrome is an extremely rare entity, with only two cases reported in the literature so far. Here, we present a case of recurrent Rapunzel syndrome in a 15-year-old girl. She underwent laparotomy twice in five years to extract trichobezoars measuring 58 cm and 62 cm. In both stances when Rapunzel syndrome was diagnosed, a tuft of hair extending from the stomach toward the jejunum was observed. The patient underwent psychiatric consultation and supervision after the first laparotomy; however, a lack of follow-up resulted in recurrence. We conclude that complete removal of trichobezoar and psychiatric consultation, coupled with long-term follow-up, are essential to prevent recurrence. PMID:21731983

  17. Congenital nephrotic syndrome

    MedlinePLUS

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  18. Tourette Syndrome Association

    MedlinePLUS

    Team Tourette Making a Difference With Every Mile! Run, Walk Participate! Click Here... Children & Teens Youth Ambassador Program, Children's ... MINK RECEIVES OLIVER SACKS AWARD FOR EXCELLENCE IN TOURETTE SYNDROME-CLICK HERE TS and OCD - June 12, ...

  19. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

    Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. Muscle Nerve 52: 5-12, 2015. PMID:25736532

  20. Childhood Nephrotic Syndrome

    MedlinePLUS

    ... inflammatory drugs, and exposure to chemicals, such as mercury and lithium. Congenital Diseases and Childhood Nephrotic Syndrome ... hormones to promote growth and help bones mature removal of one or both kidneys to decrease the ...

  1. Learning about Marfan Syndrome

    MedlinePLUS

    ... Lumbosacral dural ectasia determined by CT scan or magnetic resonance imaging (MRI). Four of the eight typical skeletal features. ... known, and also using a technique called linkage analysis (tracking the gene for Marfan syndrome in a ...

  2. Metabolic Syndrome and Cancer

    PubMed Central

    Pothiwala, Pooja; Jain, Sushil K.

    2009-01-01

    Abstract Since its first description by Reavan in 1988, accepted criteria for clinical identification of the components of metabolic syndrome have been promulgated by the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) and the World Health Organization (WHO) as well as the International Diabetes Federation (IDF), and the American Association of Clinical Endocrinologists (AACE). Insulin resistance is a common metabolic abnormality underlying type 2 diabetes mellitus and is also an independent risk factor for cardiovascular disease. Although ATP III identified cardiovascular disease (CVD) as the primary clinical outcome of the metabolic syndrome, we now have evidence that metabolic syndrome is associated with type 2 diabetes mellitus, polycystic ovarian disease, nonalcoholic fatty liver disease, and possibly some cancers. This review summarizes evidence in support of the relationship between metabolic syndrome and various cancers and possible underlying mechanisms and therapeutic interventions. PMID:19284314

  3. Blepharokeratoconjunctivitis in Cockayne syndrome.

    PubMed

    Bhojwani, Rajan; Lloyd, I Chris; Alam, Suemyaa; Ashworth, Jane

    2009-01-01

    Cockayne syndrome is a multisystemic, autosomal recessive disease resulting from abnormalities of DNA repair. Ocular manifestations are common, particularly congenital cataract and retinal dystrophy. This study describes a previously unreported association of blepharokeratoconjunctivitis (BKC) in Cockayne syndrome. The authors conducted a retrospective case review of patients with Cockayne syndrome between 1997 and 2006. The ocular manifestations were documented. All cases were bilaterally aphakic from congenital cataract surgery. Four cases of BKC with resultant corneal changes were identified. Two other cases of BKC without corneal changes were also noted. There were no cases of corneal ulceration or visually significant scarring. These findings are clinically important because many patients with Cockayne syndrome wear contact lenses for the refractive correction of aphakia with a resultant risk of corneal ulceration. PMID:19496505

  4. Complex Regional Pain Syndrome

    MedlinePLUS

    ... injury. Your doctor may also call this condition reflex sympathetic dystrophy or causalgia. The cause of the ... specifically at dealing with chronic pain. Other Organizations Reflex Sympathetic Dystrophy Syndrome Association of America Questions to ...

  5. Klippel-Trenaunay syndrome

    MedlinePLUS

    ... present at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in ...

  6. Alport Syndrome Diagnosis

    MedlinePLUS

    ... right is an X-linked Alport kidney. (Cosmo Bio Company, LTD.) Kidney Biopsy Alport Syndrome produces unique changes in the walls of the blood vessels of the glomeruli (kidney structures) that can be detected by performing electron microscopy ...

  7. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your health care provider prescribed.

  8. Wernicke-Korsakoff syndrome

    MedlinePLUS

    ... sometimes occurs with a chronic illness or after obesity (bariatric) surgery. Korsakoff syndrome, or Korsakoff psychosis, tends to develop as Wernicke symptoms go away. Wernicke encephalopathy causes brain damage in lower parts of the brain ...

  9. Marfan Syndrome (For Parents)

    MedlinePLUS

    ... require surgery. Some teens may want to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  10. Sexuality and Down Syndrome

    MedlinePLUS

    ... Any Special Needs or Concerns in Regard To Birth Control? Approximately 50% of women with Down syndrome are ... effectively and possible side effects. Tubal ligation (permanent birth control through surgery) may also be performed without added ...

  11. Postural Tachycardia Syndrome

    MedlinePLUS

    ... Institution: NIH Library User Name Password Sign In Cardiology Patient Page Postural Tachycardia Syndrome Perspectives for Patients ... Toledo, Ohio. Correspondence to Blair P. Grubb, MD, Cardiology, Health Science Campus, University of Toledo, 3000 Arlington ...

  12. Facts about Down Syndrome

    MedlinePLUS

    ... of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention ...

  13. Narcotic Bowel Syndrome

    MedlinePLUS

    ... be caused by long-term narcotic use. The syndrome is characterized by chronic or periodic abdominal pain that gets worse when the effect of the narcotic drug wears down. In addition to pain, which is the primary ...

  14. Broken Heart Syndrome

    MedlinePLUS

    ... the Asian population in 1990 and named takotsubo cardiomyopathy (KAR-de-o-mi-OP-ah-thee). In ... The condition also is commonly called stress-induced cardiomyopathy. The cause of broken heart syndrome is not ...

  15. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones ... from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms ...

  16. Lesch-Nyhan syndrome

    MedlinePLUS

    ... down as an X-linked, or sex-linked trait . It occurs mostly in boys. People with this ... feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is ...

  17. Nephrotic Syndrome in Adults

    MedlinePLUS

    ... www.nephcure.org The Nephrotic Syndrome Study Network (NEPTUNE) University of Michigan 206 Simpson Memorial Institute 102 ... Ann Arbor, MI 48109 Phone: 1–877–9–NEPTUNE (1–877–963–7886) or 734–615–5021 ...

  18. Milk-alkali syndrome

    MedlinePLUS

    ... the dynamics of calcium homeostasis. Clin J Am Soc Nephrol . 1006;1:641– 654. Grubb M, Gaurav ... Welcome to the calcium-alkali syndrome. J Am Soc Nephrol. 2010;21:1440-1443. Yoshizawa H, Morishita ...

  19. Anesthesia & Down Syndrome

    MedlinePLUS

    ... neck) and airway size. How Do Behavior and Communication Issues Affect Anesthesia? The better we are at ... pre-anesthetic periods of evaluation and preparation. Receptive communication skills of people with Down syndrome are often ...

  20. ADHD & Down Syndrome

    MedlinePLUS

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down syndrome may have many barriers to effective communication. The receptive language skills of children with Down ...

  1. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  2. Learning about Duane Syndrome

    MedlinePLUS

    ... have been linked to DS. Top of page Clinical Research on Duane Syndrome Currently, NHGRI is not conducting ... NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrials.gov] Clinical Research FAQ Top of page Additional Resources for Duane ...

  3. [Juvenile polyposis syndrome].

    PubMed

    Vasov?ák, P; Foretová, L; Puchmajerová, A; K?epelová, A

    2012-01-01

    Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations. PMID:22920200

  4. Guillain-Barré syndrome

    PubMed Central

    Seneviratne, U.

    2000-01-01

    Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several factors are useful in predicting the outcome of these patients.???Keywords: Guillain-Barré syndrome PMID:11085768

  5. Vertebral artery stump syndrome.

    PubMed

    Nguyen, T N; Raymond, J; Mahmoud, M; Weill, A; Roy, D; Guilbert, F

    2008-01-01

    After occlusion of flow in an artery, further ischaemic episodes are not expected due to lack of a flow conduit to carry the embolus. In the carotid stump syndrome, ongoing ischaemic events may continue due to collateral flow via the external carotid artery. We report two patients presenting with posterior circulation strokes after documented vertebral artery occlusion, due to a vertebral stump syndrome. Their presentation, the pathophysiology of cervico-vertebral anastomoses and management are described. PMID:18079301

  6. Bannayan Ruvalcaba Riley Syndrome

    PubMed Central

    Sagi, Sashidhar V.; Ballard, Darren D.; Marks, Rebecca A.; Dunn, Katie R.

    2014-01-01

    A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome.

  7. The fragile X syndrome

    Microsoft Academic Search

    B B de Vries; D J Halley; B A Oostra; M F Niermeijer

    1998-01-01

    The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples

  8. [Nijmegen Breakage syndrome].

    PubMed

    Erdos, Melinda; Tóth, Beáta; Juhász, Pálma; Mahdi, Mohamed; Maródi, László

    2010-04-18

    Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. The syndrome is caused by mutations in the NBS1 gene, which encodes a DNA-repair protein, named nibrin. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inborn error of innate immunity. PMID:20353920

  9. Aspergillus Overlap Syndromes

    Microsoft Academic Search

    Ayman O. Soubani

    \\u000a \\u000a Aspergillus causes a variety of clinical syndromes that are influenced by the patients’ immune status and lung function and structure.\\u000a Whilst these syndromes (such as chronic cavitary pulmonary aspergillosis, Aspergillus sinusitis, allergic bronchopulmonary aspergillosis – ABPA – and invasive aspergillosis) tend to have their unique clinical,\\u000a serological, and radiological presentations, there are rare situations where these may overlap, co-exist or

  10. Lemierre’s syndrome

    Microsoft Academic Search

    Adam W. Armstrong; Katherine Spooner; John W. Sanders

    2000-01-01

    Lemierre’s syndrome is characterized by an oropharyngeal infection followed by internal jugular vein septic thrombophlebitis\\u000a and metastatic emboli, most often to the lungs and joints. The syndrome is most commonly associated with the anaerobic gram-negative\\u000a rod Fusobacterium necrophorum. Diagnosis is established with evidence of metastatic infection and internal jugular vein thrombophlebitis. CT is considered\\u000a the diagnostic procedure of choice. Treatment

  11. Lynch Syndrome Genes

    Microsoft Academic Search

    Päivi Peltomäki

    2005-01-01

    Since the discovery of the major human genes with DNA mismatch repair (MMR) function in 1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly linked to susceptibility of hereditary nonpolyposis colorectal cancer (HNPCC)\\/Lynch syndrome. Among these, PMS2 mutations are associated with diverse clinical features, including those of the Turcot syndrome. Two additional MMR genes, MLH3 and PMS1,

  12. Hamartomatous polyposis syndromes: A review

    PubMed Central

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner. The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs. Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer. PMID:25022750

  13. Psoriasis and Metabolic Syndrome

    PubMed Central

    Malkic Salihbegovic, Eldina; Hadzigrahic, Nermina; Cickusic, Amra Jakubovic

    2015-01-01

    Introduction: Psoriasis is a chronic skin ailment which can be connected with an increased occurrence of other illnesses, including the metabolic syndrome. Examinees and methods: A prospective study has been conducted which included 70 patients affected by psoriasis, both genders, older than 18 years. Average age being 47,14 (SD=±15,41) years, from that there were 36 men or 51,43 and 34 women or 48,57%. The average duration of psoriasis was 15,52 (SD= ±12,54) years. For purposes of diagnosing the metabolic syndrome, the criteria of National Cholesterol Education Program Adult Treatment Panel III, (NCEP ATP III) were used. For purposes of detecting the severity and spread of psoriasis, Psoriasis Area and Severity Index (PASI) was used. Results: The incidence of metabolic syndrome in patients with psoriasis was 38,57%. Average values of PASI score were 16,65. The increase in values of PASI score and metabolic syndrome were statistically highly connected. (r=0,3, p=0,0001). Conclusion: Psoriasis is connected with metabolic syndrome, there is a positive correlation between the severity of psoriasis and frequency of metabolic syndrome. PMID:26005254

  14. Microdeletion 3q syndrome.

    PubMed

    Ramieri, Valerio; Tarani, Luigi; Costantino, Francesco; Basile, Emanuela; Liberati, Natascia; Rinna, Claudio; Cascone, Piero; Colloridi, Fiorenza

    2011-11-01

    The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

  15. Genetics Home Reference: Rabson-Mendenhall syndrome

    MedlinePLUS

    ... and may include treatment providers. Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome You might also ... people use for Rabson-Mendenhall syndrome? Mendenhall syndrome pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia, insulin- ...

  16. Learning about Cri du Chat Syndrome

    MedlinePLUS

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  17. Symptoms and Diagnosis of Metabolic Syndrome

    MedlinePLUS

    ... Tools & Resources Stroke More Symptoms and Diagnosis of Metabolic Syndrome Updated:Nov 20,2014 What are the symptoms ... content was last reviewed on 05/14/2014. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  18. [Autoimmune fatigue syndrome and fibromyalgia syndrome].

    PubMed

    Itoh, Y; Igarashi, T; Tatsuma, N; Imai, T; Yoshida, J; Tsuchiya, M; Murakami, M; Fukunaga, Y

    1999-08-01

    We have encounted two patients with fibromyalgia (FM) initially diagnosed as having autoimmune fatigue syndrome (AIFS). To investigate the relationship between AIFS and FM, the distribution of the tender points in patients with AIFS was assessed according to the ACR criteria for FM. It was revealed that AIFS patients had 5.6 tender points on averages. Patients with headaches, digestive problems, or difficulty going to school had more tender points than patients without. Patients with ANA titers < 1: 160 had more tender points than patients with ANA > or = 1: 160. Anti-Sa negative patients had more tender points than positive patients. These results suggest a relationship between AIFS and FM in terms of the pathophysiologic mechanisms of the numerous tender points. In other words, ANA-positive FM patients could be one form of AIFS, as well as ANA-positive chronic fatigue syndrome patients. Thus, autoimmunity could explain the controversial disease entities of FM and/or CFS. PMID:10466339

  19. Lemierre's syndrome--the syndrome quite forgotten.

    PubMed

    Krishna, Kavita; Diwan, A G; Gupt, Ankur

    2012-03-01

    A 17 year old male presented with seizures, headache, and fever and left chronic suppurative otitis media. A 35 year old male presented with headache, giddiness, vomiting, pain in eyes, diplopia and right chronic suppurative otitis media. Brain imaging in both revealed thrombosis of lateral and sigmoid sinus and also of internal jugular vein on the left and right side respectively. A diagnosis of Lemierre's syndrome was made in both. They were treated with antibiotics and anticoagulants, and they responded to treatment. We want to report this case as we feel, that with the advent of the antibiotic era, this syndrome has become rare; and so "quite forgotten" or overlooked, by many physicians. PMID:22799122

  20. Marfan syndrome: An eyesight of syndrome?

    PubMed Central

    Kumar, Ashok; Agarwal, Sarita

    2014-01-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  1. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  2. Hyper-Immunoglobulin E Syndrome (HIES) or Job's Syndrome

    MedlinePLUS

    ... Content Area Hyper-Immunoglobulin E Syndrome (HIES) or Job’s Syndrome People with HIES have recurrent boils of ... Syriac Bible of Paris depicting the biblical character Job suffering from boils. Credit: Wikimedia Commons HIES may ...

  3. Juvenile polyposis syndrome

    PubMed Central

    Brosens, Lodewijk AA; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  4. Juvenile polyposis syndrome.

    PubMed

    Brosens, Lodewijk Aa; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-11-28

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  5. Cauda equina syndrome.

    PubMed

    Orendácová, J; Cízková, D; Kafka, J; Lukácová, N; Marsala, M; Sulla, I; Marsala, J; Katsube, N

    2001-08-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory disorders may appear. These disorders include low-back pain, saddle anesthesia, bilateral sciatica, then motor weakness of the lower extremities or chronic paraplegia and, bladder dysfunction. Multiple etiologies can cause the cauda equina syndrome. Among them, non-neoplastic compressive etiologies such as herniated lumbosacral discs and spinal stenosis and spinal neoplasms play a significant role in the development of the cauda equina syndrome. Non-compressive etiologies of the cauda equina syndrome include ischemic insults, inflammatory conditions, spinal arachnoiditis and other infectious etiologies. The use of canine, porcine and rat models mimicking the cauda equina syndrome enabled discovery of the effects of the compression on nerve root neural and vascular anatomy, the impairment of impulse propagation and the changes of the neurotransmitters in the spinal cord after compression of cauda equina. The involvement of intrinsic spinal cord neurons in the compression-induced cauda equina syndrome includes anterograde, retrograde and transneuronal degeneration in the lumbosacral segments. Prominent changes of NADPH diaphorase exhibiting, Fos-like immunoreactive and heat shock protein HSP72 were detected in the lumbosacral segments in a short-and long-lasting compression of the cauda equina in the dog. Developments in the diagnosis and treatment of patients with back pain, sciatica and with a herniated lumbar disc are mentioned, including many treatment options available. PMID:11311464

  6. Nijmegen breakage syndrome (NBS).

    PubMed

    Chrzanowska, Krystyna H; Gregorek, Hanna; Dembowska-Bagi?ska, Bo?enna; Kalina, Maria A; Digweed, Martin

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. PMID:22373003

  7. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  8. Aicardi-Goutieres Syndrome Disorder

    MedlinePLUS

    ... Encephalopathy (familial infantile), Pseudo-Torch syndrome, Pseudotoxoplasmosis syndrome Table of Contents (click to jump to sections) What ... of AGS are inherited in an autosomal recessive manner, which means that both parents of a child ...

  9. Ellis-van Creveld syndrome

    MedlinePLUS

    Call your health care provider if your child has symptoms of this syndrome. If you have a family history of Ellis-van Creveld syndrome and your child has any symptoms, visit your health care provider. Genetic ...

  10. Genetics Home Reference: Silver syndrome

    MedlinePLUS

    ... with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs ... inherit ; inherited ; motor ; mutation ; nervous system ; paraplegia ; penetrance ; pes cavus ; prevalence ; protein ; sign ; spasticity ; syndrome You may ...

  11. Learning about Antiphospholipid Syndrome (APS)

    MedlinePLUS

    ... and links from the National Institutes of Health. Learning About Antiphospholipid Syndrome (APS) What is antiphospholipid syndrome ( ... with APS include : Systemic Vascular Thrombosis While the deep veins of the legs are the most frequent ...

  12. Middle East Respiratory Syndrome (MERS)

    MedlinePLUS

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... Middle East Respiratory Syndrome (MERS) is a severe respiratory illness. It causes fever, coughing, and shortness of breath. About 30% of people who have gotten ...

  13. How Is Marfan Syndrome Diagnosed?

    MedlinePLUS

    ... of Marfan syndrome may vary quite a bit. Specialists Involved Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome. ...

  14. Genetics Home Reference: Antiphospholipid syndrome

    MedlinePLUS

    ... also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses ... Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 ...

  15. Genetics Home Reference: Proteus syndrome

    MedlinePLUS

    ... proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another is type 2 segmental Cowden syndrome. However, some scientific articles still refer to PTEN -related Proteus ... complication ; connective tissue ; diagnosis ; ...

  16. First Trimester Down Syndrome Screen

    MedlinePLUS

    ... website will be limited. Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... and a quad screen performed? 1. What is Down syndrome? About 1 in 700 babies are born with ...

  17. How Is Metabolic Syndrome Treated?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include losing weight, being physically active, ...

  18. Families and Fragile X Syndrome

    MedlinePLUS

    ... Publications Scientific Research Planning Scientific Resources Research Families & Fragile X Syndrome: Index Skip sharing on social media links Share ... Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family ...

  19. What Causes Fragile X Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Fragile X syndrome? Skip sharing on social media links Share this: ... with the mutated FMR1 gene has symptoms of Fragile X syndrome, because the body may still be able to ...

  20. Fragile X Syndrome: Other FAQs

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media links ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile X ...

  1. Genetics Home Reference: Troyer syndrome

    MedlinePLUS

    ... treatment providers. Gene Review: Hereditary Spastic Paraplegia Overview Gene Review: Troyer Syndrome Genetic Testing Registry: Troyer syndrome Spastic Paraplegia Foundation, Inc.: Treatments and Therapies You might also find information on the diagnosis ...

  2. Irregular sleep-wake syndrome

    MedlinePLUS

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  3. Genetics Home Reference: Klinefelter syndrome

    MedlinePLUS

    ... with those of other conditions. What are the genetic changes related to Klinefelter syndrome? Klinefelter syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  4. Genetic Features of Turner Syndrome

    MedlinePLUS

    Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism X-defects Hereditary Aspects Figure 1. Gametogenesis Figure ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  5. Genetics Home Reference: Turner syndrome

    MedlinePLUS

    ... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  6. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

    ... this condition have been reported. What are the genetic changes related to Emanuel syndrome? Emanuel syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  7. Sudden Infant Death Syndrome (SIDS)

    MedlinePLUS

    ... Parents > General Health > Your Kid's Sleep > Sudden Infant Death Syndrome (SIDS) Print A A A Text Size ... answers is part of what makes sudden infant death syndrome (SIDS) so frightening. SIDS is the leading ...

  8. Genetics Home Reference: Barth syndrome

    MedlinePLUS

    ... pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some ... Barth syndrome? aciduria ; bacteria ; cardiomyopathy ; cell ; chromosome ; dilated ; elastic ; gene ; heart failure ; hypotonia ; inborn errors of metabolism ; ...

  9. Ocular Findings of Beals Syndrome

    Microsoft Academic Search

    Sugie Takaesu-Miyagi; Hiroshi Sakai; Tadashi Shiroma; Kazuhisa Hayakawa; Yusei Funakoshi; Shoichi Sawaguchi

    2004-01-01

    Background In this report of two Okinawan patients with Beals syndrome and accompanying ocular complications, the symptoms of Beals syndrome and Marfan syndrome are compared. The etiology of these two syndromes is considered in relation to fibrillin. Cases Case 1 was a 5-year-old boy who showed blue sclera and bilateral enlargement of optic disc cupping. Case 2 was a 24-year-old

  10. CHARGE Syndrome: An Educators' Primer

    ERIC Educational Resources Information Center

    Smith, Katherine G.; Smith, Isabel M.; Blake, Kim

    2010-01-01

    This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…

  11. Molecular diagnosis of Alpers syndrome

    Microsoft Academic Search

    Khue V. Nguyen; Farida S. Sharief; Sherine S. L. Chan; William C. Copeland; Robert K. Naviaux

    2006-01-01

    Background\\/Aims: Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. Methods: The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG mutations found

  12. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  13. Autoinflammatory syndromes: diagnosis and management

    Microsoft Academic Search

    Sara De Sanctis; Manuela Nozzi; Marianna Del Torto; Alessandra Scardapane; Stefania Gaspari; Giuseppina de Michele; Luciana Breda; Francesco Chiarelli

    2010-01-01

    During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis

  14. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  15. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  16. Genetics Home Reference: Down syndrome

    MedlinePLUS

    ... Language National Down Syndrome Society: Health Care National Down Syndrome Society: Therapies and Development You might also find information on ... Naming Guidelines and How are genetic conditions and genes named? in the ... syndrome? Ask the Genetic and Rare Diseases Information Center . ...

  17. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

    The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

  18. Epilepsy-aphasia syndromes.

    PubMed

    Steinlein, Ortrud K

    2009-06-01

    The combination of aphasia and epileptic seizures is characteristic for Landau-Kleffner syndrome and childhood disintegrative disorder. These disorders affect young children with previously normal psychomotor development, causing profound regression with loss of receptive and expressive language capabilities. The etiologies of these childhood epilepsy-aphasia syndromes are largely unknown, and the long-term prognosis is poor. The seizures usually remit in adolescence, however most patients show persistent language dysfunction. In autosomal dominant lateral temporal lobe epilepsy, the aphasic symptoms are transitory and mostly restricted to the ictal phase. The monogenic etiology of this rare seizure disorder offers the possibility to study the molecular basis of epilepsy-aphasia syndromes. PMID:19496686

  19. Isaacs' syndrome in pregnancy.

    PubMed

    Lide, Brianna; Singh, Jasbir; Haeri, Sina

    2014-01-01

    Isaacs' syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyperexcitability. Symptoms commonly include myokymia (muscle twitching at rest), pseudomyotonia (delayed muscle relaxation), muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange. To date only two cases of Isaacs' syndrome in pregnancy have been reported. We present a case of maternal Isaacs' along with a review of the literature. There are few reports of Isaacs' syndrome in pregnancy, but all are associated with favourable outcomes. Given the autosomal dominant inheritance pattern, genetic counselling of the gravida is recommended. Anticonvulsant may have to be used in pregnancy, and given the potential teratogenicity with several of these agents; preference should be given to newer drugs such as lamotrigine. PMID:25301428

  20. [Cephalic hypersensitivity syndrome].

    PubMed

    Shimizu, Toshihiko; Hirata, Koichi; Manaka, Shinya; Arakawa, Ichiro

    2012-01-01

    The number of patients suffering from chronic headache accompanied by dizziness and cephalic ringing is gradually increasing. Pathophysiology of migraine has been commonly explained by trigeminovascular theory, although recent studies have suggested that the cause of the migraine stems from cortical hyperexcitability. We measured EEG in 1,000 patients suffering from daily headache accompanied by dizziness and cephalic ringing. Here we defined a new syndrome,"cephalic hypersensitivity syndrome" as a subliminal cortical hyperexcitability which itself is invisible but apparently seen as some symptoms such as dizziness and cephalic ringing. The cephalic hypersensitivity syndrome should be treated to attenuate the excitability by an appropriate triptan medication during attacks so as to exhibit its recurrence. PMID:22413510

  1. Guillain-Barré syndrome.

    PubMed

    Arcila-Londono, Ximena; Lewis, Richard A

    2012-07-01

    Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy, which has various clinical presentations and both axonal and demyelinating forms. The original description of "ascending paralysis" encompasses the most common varieties: the primary demyelinating form, acute inflammatory demyelinating polyneuropathy (AIDP), and some of the axonal forms, acute motor axonal neuropathy (AMAN) and acute motor and sensory axonal neuropathy (AMSAN). However, there are now well-documented acute "monophasic" polyneuropathies that have a different clinical phenomenology than that described originally by Guillain, Barré, and Strohl: Miller Fisher syndrome, pure sensory neuropathy/neuronopathy, pandysautonomia, and oropharyngeal variant. Here the authors review both typical GBS (AIDP, AMAN, and AMSAN), and variant syndromes with a focus on clinical and diagnostic features, pathologic findings, pathogenesis, and treatment. PMID:23117942

  2. Venous thoracic outlet syndrome.

    PubMed

    Moore, Robert; Wei Lum, Ying

    2015-04-01

    Venous thoracic outlet syndrome is a complex but rare disease that often can have excellent outcomes if quickly recognized and treated. The syndrome results from compression of the subclavian vein along its exit from the thoracic cavity and frequently affects young otherwise healthy patients. Modern diagnosis is made with a combination of clinical exam, appropriate non-invasive imaging, and, finally, contrast venography, which can be both diagnostic and therapeutic. Treatments have evolved over time to the point where patients can undergo less extensive procedures than previously performed and still maintain excellent outcomes. One of the most important predictors of outcome is the initiation of treatment within 14 days of symptoms. Hence, the importance of the accurate and prompt diagnosis of this syndrome in patients with an upper-extremity deep vein thrombotic episode cannot be further underscored. This review is a concise summary of the background and treatment algorithm for this patient population. PMID:25832605

  3. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.???Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  4. Muir-Torre syndrome.

    PubMed

    Bhaijee, Feriyl; Brown, Alexandra S

    2014-12-01

    Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability. Pathologists have an important role in the early detection and initial diagnosis of MTS: identification of at-risk individuals allows appropriate screening and surveillance for visceral malignancies, thereby reducing morbidity and mortality. Herein, we describe the clinicopathologic features of MTS. PMID:25427047

  5. PDGFRA-mutant syndrome.

    PubMed

    Ricci, Riccardo; Martini, Maurizio; Cenci, Tonia; Carbone, Arnaldo; Lanza, Paola; Biondi, Alberto; Rindi, Guido; Cassano, Alessandra; Larghi, Alberto; Persiani, Roberto; Larocca, Luigi M

    2015-07-01

    Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards, however, inflammatory fibroid polyps also revealed PDGFRA mutations. Subsequently, gastrointestinal CD34+ 'fibrous tumors' of uncertain classification were described in a germline PDGFRA-mutant context. Our aim was to characterize the syndrome produced by germline PDGFRA mutations and establish diagnostic criteria and management strategies for this hitherto puzzling disease. We studied a kindred displaying multiple gastrointestinal mesenchymal tumors, comparing it with published families/individuals with possible analogous conditions. We identified a novel inherited PDGFRA mutation (P653L), constituting the third reported example of familial PDGFRA mutation. In adult mutants we detected inflammatory fibroid polyps, gastric GISTs and gastrointestinal fibrous tumors of uncertain nosology. We demonstrate that the syndrome formerly defined as INF/NF3b (exemplified by the family reported herein) is simplistically considered a form of familial GIST, because inflammatory fibroid polyps often prevail. Fibrous tumors appear variants of inflammatory fibroid polyps. 'INF/NF3b' and 'familial GIST' are misleading terms which we propose changing to 'PDGFRA-mutant syndrome'. In this condition, unlike KIT-dependent familial GIST syndromes, if present, GISTs are stomach-restricted and diffuse Cajal cell hyperplasia is not observed. This restriction of GISTs to the stomach in PDGFRA-mutant syndrome: (i) focuses oncological concern on gastric masses, as inflammatory fibroid polyps are benign; (ii) supports a selective role of gastric environment for PDGFRA mutations to elicit GISTs, justifying the known predilection for stomach of sporadic PDGFRA-mutant GISTs. An awareness that inflammatory fibroid polyps, relatively common among gastrointestinal mesenchymal tumors, may be the prevailing tumor in PDGFRA-mutant syndrome could eventually reveal an unsuspected prevalence of this condition. PMID:25975287

  6. Wernicke-Korsakoff syndrome.

    PubMed Central

    Zubaran, C.; Fernandes, J. G.; Rodnight, R.

    1997-01-01

    Alcohol abuse is one of the most serious problems in public health and the Wernicke-Korsakoff syndrome is one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in treatment planning. Treatment is based on restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article, the literature concerning Wernicke-Korsakoff syndrome is reviewed. Images p31-a PMID:9039406

  7. Equine metabolic syndrome.

    PubMed

    Frank, Nicholas

    2011-04-01

    The concept of an equine metabolic syndrome (EMS) was first proposed in 2002. This concept has developed over time, and EMS was recently described in a consensus statement released by the American College of Veterinary Internal Medicine. In human medicine, metabolic syndrome (MetS) refers to a set of risk factors that predict the risk of cardiovascular disease, including obesity, glucose intolerance and insulin resistance (IR), dyslipidemia, microalbuminuria, and hypertension. EMS shares some of the features of MetS, including increased adiposity, hyperinsulinemia, IR, but differs in that laminitis is the primary disease of interest. PMID:21392655

  8. Asperger syndrome revisited.

    PubMed

    Baskin, Joseph H; Sperber, Michael; Price, Bruce H

    2006-01-01

    Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options. PMID:16596080

  9. [Pulmonary-renal syndrome].

    PubMed

    Risso, Jorge A; Mazzocchi, Octavio; De All, Jorge; Gnocchi, César A

    2009-01-01

    The pulmonary-renal syndrome is defined as a combination of diffuse alveolar hemorrhage and glomerulonephritis. The coexistence of these two clinical conditions is due to diseases with different pathogenic mechanisms. Primary systemic vasculitis and Goodpasture syndrome are the most frequent etiologies. Systemic lupus erythematosus, connective tissue diseases, negative anti neutrophil cytoplasmic antibody vasculitis and those secondary to drugs are far less common causes. An early diagnosis based on clinical, radiologic, laboratory and histologic criteria enables early treatment, thus diminishing its high morbidity-mortality rate. Therapy is based on high doses of corticosteroids, immunosuppressants, tumor necrosis factor inhibitors and plasmapheresis. PMID:20053612

  10. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

  11. Dermatoglyphics in Down's syndrome.

    PubMed

    Rajangam, S; Janakiram, S; Thomas, I M

    1995-01-01

    Dermatoglyphic data were obtained from 235 cytogenetically confirmed patients of Down's syndrome. The data were correlated and compared with 230 controls. Printing and transparent adhesive tape photography methods were used to get the dermatoglyphic prints. Patients' total finger ridge counts and 'atd' angles differed significantly from that of the controls. Mostly ulnar loop pattern was observed in the patients. Abnormal dermatoglyphic features such as, simian crease, Sydney line and patterns in the hypothenar and interdigital areas have occurred more frequently in the patients. Dermatoglyphics and the analyses carried out have proved that they are invaluable in their clinical value, in selecting patients of Down's syndrome for cytogenetic analysis. PMID:7759898

  12. Nijmegen breakage syndrome.

    PubMed

    Kondratenko, Irina; Paschenko, Olga; Polyakov, Alexandr; Bologov, Andrey

    2007-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene--nibrin--is a protein with 95 kDa molecular weight (p95). The same mutation in the NBS1 gene (deletion 657del5) was detected in most of the evaluated patients. In this chapter, we describe the analysis of the literature and our results on clinical and immunological features and genetic evaluation of 21 NBS patients. PMID:17712992

  13. Immunoadsorption in Goodpasture's syndrome.

    PubMed

    Laczika, K; Knapp, S; Derfler, K; Soleiman, A; Hörl, W H; Druml, W

    2000-08-01

    Patients with Goodpasture's syndrome presenting with dialysis-dependent end-stage renal failure at diagnosis almost never regain independent renal function. We report a patient with a 100% crescentic lesion in whom reversal of dialysis dependence was achieved by immunoadsorption together with immunosuppression. In a second patient, early initiation of immunoadsorption was able to completely restore normal renal function as early as 1 month after the start of treatment. These data give evidence of the use of immunoadsorption as a hopeful alternative to conventional plasma exchange in patients with Goodpasture's syndrome showing advanced renal failure. PMID:10922318

  14. Shaken baby syndrome.

    PubMed

    Altimier, Leslie

    2008-01-01

    Non-accidental head trauma in infants is the leading cause of infant death from injury. Clinical features that suggest head trauma (also known as shaken baby syndrome or shaken impact syndrome) include the triad consisting of retinal hemorrhage, subdural, and/or subarachnoid hemorrhage in an infant with little signs of external trauma. Abusive head injuries are among the most common causes of serious and lethal injuries in children. These injuries may result from impact or shaking or a combination of these mechanisms. These mechanisms cause the child's head to undergo acceleration/ deceleration movements, which may create inertial movement of the brain within the cranial compartment. PMID:18287904

  15. West syndrome in a patient with schinzel-giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. PMID:25028416

  16. Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome.

    ERIC Educational Resources Information Center

    Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.

    2000-01-01

    Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…

  17. Aging and Down Syndrome

    MedlinePLUS

    ... developmental disabilities (I/DD). Dr. Moran is on faculty at Harvard Medical School and Beth Israel Deaconess ... getting started faCiaL eXpression tone of voiCe body Language 28 The National Down Syndrome Society Image Courtesy ...

  18. Syndrome In Question*

    PubMed Central

    do Nascimento, Ana Cláudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  19. Amniotic band syndrome.

    PubMed

    Shetty, Prathvi; Menezes, Leo Theobald; Tauro, Leo Francis; Diddigi, Kumar Arun

    2013-10-01

    Amniotic band syndrome is an uncommon congenital disorder without any genetic or hereditary disposition. It involves fetal entrapment in strands of amniotic tissue and causes an array of deletions and deformations. Primary treatment is plastic and reconstructive surgery after birth with in utero fetal surgery also coming in vogue. PMID:24426485

  20. Asperger Syndrome and Terror.

    ERIC Educational Resources Information Center

    Roe, Karen

    1999-01-01

    This article describes the sense of terror felt by many individuals with Asperger syndrome due to distorted stimuli and social skills deficits. Societal attitudes that ostracize those that behave strangely or are socially awkward are discussed, along with disability persecution and discrimination. (CR)

  1. Meconium aspiration syndrome

    Microsoft Academic Search

    Jane Yizhen Lim; S. Arulkumaran

    2008-01-01

    Meconium aspiration syndrome (MAS) is a rare condition affecting infants who inhale or aspirate meconium-stained liquor during or after labour. It is a serious disease with complications of neonatal respiratory distress, and can lead to the death of infants if it is not detected early or is left untreated.Hypoxia, hypercarbia and chorioamnionitis predispose infants to this condition, and often they

  2. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  3. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  4. Troyer syndrome revisited

    Microsoft Academic Search

    Christos Proukakis; Harold Cross; Heema Patel; Michael A. Patton; Alan Valentine; Andrew H. Crosby

    2004-01-01

    Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer

  5. The Tie retraction syndrome.

    PubMed

    Geerling, Gerd; Neppert, Birte; Hemmant, Bridget

    2012-12-01

    Tissue retraction is implicated in the pathogenesis of various ophthalmic disorders. Here we describe the clinical characteristics, epidemiology and pathophysiology of a form of retraction syndrome which - to the best of our knowledge - has not been reported in the ophthalmic literature so far. We have termed this condition - consisting of a slowly progressive pseudovertical shortening of tie length due to a horizontal extension of girth length - the "Tie retraction syndrome" (TRS). Other pathognomonic features include an increased tie tip to belt buckle distance and a prolapse of the subumbilical fat pad (SUFP). The syndrome has a clear male to female preponderance and shows an increasing incidence with age and income before tax. Based on a newly proposed grading scheme we discuss and illustrate the diagnosis as well as the medical and surgical management options of this abundant, but often undiagnosed condition. The authors have no explanation for the apparent lack of awareness for this widely preponderant syndrome and its severe cosmetically disfiguring potential. We thus would like to invite all fellow colleagues with expertise in the field to comment or present their views. PMID:23088329

  6. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  7. Chronic fatigue syndrome

    Microsoft Academic Search

    Judith B Prins; Jos WM van der Meer; Gijs Bleijenberg

    2006-01-01

    During the past two decades, there has been heated debate about chronic fatigue syndrome (CFS) among researchers, practitioners, and patients. Few illnesses have been discussed so extensively. The existence of the disorder has been questioned, its underlying pathophysiology debated, and an effective treatment opposed; patients' organisations have participated in scientific discussions. In this review, we look back on several controversies

  8. Neurological syndromes of brucellosis.

    PubMed Central

    Bahemuka, M; Shemena, A R; Panayiotopoulos, C P; al-Aska, A K; Obeid, T; Daif, A K

    1988-01-01

    Eleven patients with brucellosis presented with neurological features closely simulating transient ischaemic attacks, cerebral infarction, acute confusional state, motor neuron disease, progressive multisystem degeneration, polyradiculoneuropathy, neuralgic amyotrophy, sciatica and cauda equina syndrome. Most patients improved quickly after adequate antibiotic treatment but chronic cases responded poorly. These protean neurological manifestations of brucellosis indicate that the underlying pathological mechanisms are diverse. PMID:3145961

  9. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  10. Turner Syndrome 2008

    Microsoft Academic Search

    Carolyn A. Bondy

    2009-01-01

    Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diagnoses of mosaicism for 45,X associated with normal ultrasounds have a high survival rate and may have no or only mild features

  11. Delusional Misidentification Syndromes

    PubMed Central

    Forlenza, Nicholas; Gujski, Mariusz; Hashmi, Seema; Isaac, George

    2006-01-01

    During the past 80 years, delusional misidentification syndromes (DMS), especially the Fregoli and Capgras syndromes, have posed challenges to mental health professionals due to a lack of comprehensive understanding of the syndromes and a lack of effective treatment. An issue that remains to be unresolved is whether DMS (either in its pure form or as embedded symptoms of other diagnoses) can be accommodated in the present Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). During the past two decades, neurophysiological and neuroimaging studies have pointed to the presence of identifiable brain lesions, especially in the right frontoparietal and adjacent regions, in a considerable proportion of patients with DMS. Prior to the advent of such studies, DMS phenomena were explained predominantly from the psychodynamic point of view. Deficits in working memory due to abnormal brain function, are considered to play causative roles in DMS. In this article, we present two cases of Fregoli and Capgras syndromes and discuss the relevant theoretical and practical issues. PMID:20975828

  12. IBMFS - Pearson Syndrome

    Cancer.gov

    Patients with Pearson Syndrome may have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Low red cell counts (anemia) can be a major problem, and low platelet counts (thrombocytopenia) can also occur. Symptoms are often present in infancy. Liver and kidney disease usually develop. Examination of the bone marrow under the microscope reveals characteristic holes ("vacuoles") in many cells.

  13. Beckwith–Wiedemann syndrome

    PubMed Central

    Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

    2010-01-01

    Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

  14. [Autoimmune polyglandular syndromes].

    PubMed

    Krysiak, Robert; Okopien, Bogustaw; Bo?dys, Aleksandra

    2008-01-01

    Autoimmune polyglandular syndromes are conditions characterised by the association of two or more organ-specific disorders. On the basis of the clinical picture, they are divided into four different types. Type 1 is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene located on chromosome 21. Its major components include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. Type 2 is defined as the combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Type 3 is composed of autoimmune thyroid diseases associated with other autoimmune conditions with the exception of Addison's disease. The remaining autoimmune combinations not included in the previous groups belong to type 4. Proper care of individuals with autoimmune polyendocrine syndromes requires knowledge of the problems that may arise, and the best approaches to detect and care for the manifestations of these incurable, but manageable, diseases. The objective of this paper is to review the aetiology, clinical manifestations, diagnosis and treatment of autoimmune polyglandular syndromes with a special emphasis on the most recent literature. PMID:19140388

  15. Eyes in arhinencephalic syndromes.

    PubMed Central

    Karseras, A G; Laurence, K M

    1975-01-01

    The ocular features of eight cases of arhinencephaly have been described. Prediction of the degree of brain involvement from the eye defects could not be made, but eye abnormalities were present in all cases. The relationship of these syndromes to chromosomal abnormalities is emphasized. In the less severe cases treatable endocrine dysgenesis must be excluded. Images PMID:812548

  16. What Is Asperger Syndrome?

    ERIC Educational Resources Information Center

    Barnhill, Gena P.

    2001-01-01

    This article describes characteristics of individuals with Asperger Syndrome, a developmental disability defined by impairments in social relationships and verbal and nonverbal communication and by restrictive, repetitive patterns of behavior, interests, and activities. Diagnostic criteria, essential features of the disability, and other notable…

  17. Congenital Long QT Syndrome

    Microsoft Academic Search

    G. Michael Vincent; Katherine Timothy; Li Zhang

    2002-01-01

    The congenital Long QT syndrome (LQTS) is a primary electrophysiologic disorder of the heart caused by mutations of genes which encode three different cardiac ion channels. The disease is a common cause of unexplained syncope and sudden death in the young, and should be routinely considered in such cases. The current estimate of the prevalence of LQTS is 1:7000, and

  18. Living with Marfan Syndrome

    MedlinePLUS

    ... your quality of life. Joining a patient support group may help you adjust to living with Marfan syndrome. You ... it. Talk with your doctor about local support groups or check with an area medical center. Support from family and friends also can help relieve stress and anxiety. Let your loved ones ...

  19. Sjögren-Larsson Syndrome

    Microsoft Academic Search

    Ursel Theile

    1974-01-01

    Since 1957 Sjögren and Larsson have published 28 cases of a new entity: ichthyosis, oligophrenia and di- or tetraspastic disorder a lot of cases have been reported from all over the world. Until now there are 111 cases, on which the diagnosis of Sjögren Larsson syndrome can be made certainly. Half the patients present speech defects, a third alterations of

  20. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  1. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  2. Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) is an important disease of soybean in North and South America. SDS first occurred in South America in the early 1990s. In the U.S.A., SDS was first detected in AK in 1971. Now SDS occurs in most soybean production areas of the U.S. The SDS pathogen is a soil-borne fungu...

  3. Thoracic Endometriosis Syndrome

    Microsoft Academic Search

    Areti Augoulea; Irene Lambrinoudaki; George Christodoulakos

    2008-01-01

    Endometriosis is defined as the presence of endometrial glands and stroma outside the uterine cavity and is usually confined to the pelvis. Thoracic endometriosis syndrome (TES) is a rare disorder characterized by the presence of functioning endometrial tissue in the pleura, the lung parenchyma and the airways. TES may present with hemoptysis, due to the shedding of endometrial tissue in

  4. The fragile X syndromes

    Microsoft Academic Search

    David L. Nelson

    1995-01-01

    Fragile X syndrome is a leading cause of mental retardation worldwide, with an incidence of approximately one case in 2000 live births. It is amongst the most common of human genetic diseases, and was the first to be associated with an unstable trinucleotide (CGG) repeat sequence. It is also characterized by a chromosomal fragile site which was the first of

  5. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  6. Severe acute respiratory syndrome

    Microsoft Academic Search

    Y Guan; K Y Yuen; J S M Peiris

    2004-01-01

    Severe acute respiratory syndrome (SARS) was caused by a previously unrecognized animal coronavirus that exploited opportunities provided by 'wet markets' in southern China to adapt to become a virus readily transmissible between humans. Hospitals and international travel proved to be 'amplifiers' that permitted a local outbreak to achieve global dimensions. In this review we will discuss the substantial scientific progress

  7. Ischiofemoral impingement syndrome.

    PubMed

    Lee, Soyoung; Kim, Inhwan; Lee, Sung Moon; Lee, Jieun

    2013-02-01

    Ischiofemoral impingement syndrome is known as one of the causes of hip pain due to impingement of ischium and femur, and usually correlated with trauma or operation. We report a rare case of ischiofemoral impingement syndrome that has no history of trauma or surgery. A 48-year-old female patient was referred for 2 months history of the left hip pain, radiating to lower extremity with a hip snapping sensation. She had no history of trauma or surgery at or around the hip joint and femur. The magnetic resonance imaging (MRI) of the lumbar spine showed no abnormality, except diffuse bulging disc without cord compression at the lumbosacral area. Electrophysiologic study was normal, and there were no neurologic abnormalities compatible with the lumbosacral radiculopathy or spinal stenosis. Hip MRI revealed quadratus femoris muscle edema with concurrent narrowing of the ischiofemoral space. The distance of ischiofemoral space and quadratus femoris space were narrow. It was compatible with ischiofemoral impingement syndrome. After treatment with nonsteroidal anti-inflammatory drugs, physical therapy, and exercise program, the patient's pain was relieved and the snapping was improved. To our knowledge, this is the first reported case of a nontraumatic, noniatrogenic ischiofemoral impingement syndrome, and also the first case to be treated by a nonsurgical method in the Republic of Korea. PMID:23526578

  8. Rothmund-Thomson syndrome

    Microsoft Academic Search

    Lidia Larizza; Gaia Roversi; Ludovica Volpi

    2010-01-01

    Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and\\/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is

  9. Raine syndrome: an overview.

    PubMed

    Faundes, Víctor; Castillo-Taucher, Silvia; Gonzalez-Hormazabal, Patricio; Chandler, Kate; Crosby, Andrew; Chioza, Barry

    2014-09-01

    Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management. PMID:25019372

  10. Shaken baby syndrome.

    PubMed

    Miehl, Nickolaus J

    2005-01-01

    Shaken baby syndrome (SBS) is a violent act of abuse that can cause myriad neurologic, cognitive, and other functional deficits. In the most serious cases, death can result. Health care practitioners, child care providers, and parents must be educated on the signs of SBS. Cases should be thoroughly reviewed and prevention strategies developed to prevent future incidents. PMID:17073042

  11. [Cushing's syndrome: diagnostic exploration].

    PubMed

    Tabarin, A; Roger, P

    The diagnosis of Cushing's syndrome is one of the most perplexing and controversial problems in endocrinology. However, significant advances in the diagnosis procedures have been made in the past decade. The diagnostic studies involved in the evaluation of patients with suspected Cushing's syndrome fall into two categories: confirming the presence of true hypercortisolism and establishing the precise aetiology. Diagnosis of Cushing's syndrome: ambulatory screening relies on the overnight 1 mg dexamethasone test. Negative tests are confirmed by measuring cortisol in two 24-hour urine samples. If cortisol excretion is slightly above normal, a 48-hour low-dose dexamethasone suppression test or an intravenous infusion dexamethasone suppression test are required. Diagnosis of the aetiology of Cushing's syndrome: the first step is to establish if the hypercortisolism is ACTH-dependent or not. This step is solved by measuring plasma ACTH and cortisol in the late afternoon. Computed tomography scanning of the adrenal glands is required in ACTH-independent Cushing's syndrome. A unilateral tumour will be demonstrated in most of cases. If bilateral lesions are found, dynamic testing using cortisol releasing factor and/or metyrapone must be performed to confirm the ACTH-independency of the syndrome. In ACTH-dependent Cushing's syndrome, the major difficulty is to distinguish between a pituitary source and an ectopic source of ACTH secretion. Magnetic resonance imaging of the pituitary with gadolinium enhancement must be preferred to computed tomography scanning but its sensitivity is not better than 70-80% and false positives can occur. When no macroscopic pituitary lesion can be detected, bilateral inferior petrosal sinus sampling coupled to CRH injection for ACTH measurement will indicate the source of ACTH secretion. If this test indicates the patient has Cushing's disease, pituitary trans-sphenoidal surgery can be performed. If the test indicates the patient has ectopic ACTH-secretion, a cervico-thoraco-abdominal scanning is necessary to identify the tumour. In the case of occult tumour the hypercortisolism must be controlled by pharmacological agents and the imaging investigations must be repeated at appropriate intervals. PMID:8127815

  12. Hypoplastic left heart syndrome

    PubMed Central

    Connor, Jean Anne; Thiagarajan, Ravi

    2007-01-01

    Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited. PMID:17498282

  13. Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's

    E-print Network

    Butterworth, Brian

    Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus. Rather, the development process itself must be taken into account. Keywords: Williams syndrome, Down

  14. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc. PMID:25983069

  15. [Nephrotic syndrome in a female patient with Rapunzel syndrome].

    PubMed

    Umbetalina, N S; Turgunov, E M; Turgunova, L G; Baesheva, T A; Bacheva, I V

    2014-01-01

    The Rapunzel syndrome is a rare complication of gastric trichobezoar, which may be long insidious. Systemic hair eating gradually leads to bezoar growth, gastritis, gastric mucosal ulcerations, and evacuatory disorders. The Rapunzel syndrome may cause acute and chronic bowel obstruction, peritonitis, pancreatitis, appendicitis, anemia, hypoalbuminemia, and allergic manifestations. Neither proteinuria nor nephrotic syndrome is depicted in any of the 38 Rapunzel syndrome cases described in the literature. The authors present the first case of gastric trichobezoar extending to the small bowel (its total length was 118 cm), which gave rise to chronic recurrent partial bowel obstruction, causing intoxication nephrotic syndrome in a 20-year-old women with trichotillomania. The nephrotic syndrome became a reason for her admission to a nephrology department and had specific features: it was unaccompanied by hypercholesterolemia, it rapidly regressed and completely disappeared after surgical removal of the trichobezoar weighing 1980 g. PMID:25804045

  16. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

    PubMed Central

    Coppin, B D; Temple, I K

    1997-01-01

    The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality. Images PMID:9222968

  17. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    PubMed Central

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute ?rst-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome. PMID:25548619

  18. Evolving phenotype of Marfan's syndrome

    PubMed Central

    Lipscomb, K.; Clayton-Smith, J.; Harris, R.

    1997-01-01

    Accepted 20 August 1996? AIM—To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood.?METHODS—40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition.?RESULTS—Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome.?CONCLUSIONS—These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.?? PMID:9059160

  19. Velo-Cardio-Facial Syndrome

    PubMed Central

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2010-01-01

    Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research. PMID:20111667

  20. Paraneoplastic syndromes in olfactory neuroblastoma

    PubMed Central

    Gabrych, Anna; Czapiewski, Piotr; Sworczak, Krzysztof

    2015-01-01

    Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of sinonasal tract, derived from olfactory epithelium. Unilateral nasal obstruction, epistaxis, sinusitis, and headaches are common symptoms. Olfactory neuroblastoma shows neuroendocrine differentiation and similarly to other neuroendocrine tumors can produce several types of peptic substances and hormones. Excess production of these substances can be responsible for different types of endocrinological paraneoplastic syndromes (PNS). Moreover, besides endocrinological, in ONB may also occur neurological PNS, caused by immune cross-reactivity between tumor and normal host tissues in the nervous system. Paraneoplastic syndromes in ONB include: syndrome of inappropriate ADH secretion (SIADH), ectopic ACTH syndrome (EAS), humoral hypercalcemia of malignancy (HHM), hypertension due to catecholamine secretion by tumor, opsoclonus-myoclonus-ataxia (OMA) and paraneoplastic cerebellar degeneration. Paraneoplastic syndromes in ONB tend to have atypical features, therefore diagnosis may be difficult. In this review, we described initial symptoms, patterns of presentation, treatment and outcome of paraneoplastic syndromes in ONB, reported in the literature. PMID:26199564

  1. Marfan’s syndrome

    PubMed Central

    Judge, Daniel P; Dietz, Harry C

    2006-01-01

    Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700

  2. [Treatment of tardive syndromes].

    PubMed

    Horváth, Krisztina; Aschermann, Zsuzsanna; Komoly, Sámuel; Kovács, Attila; Kovács, Norbert

    2014-01-01

    Tardive syndromes associated with dopamine-receptor blocking agents have heterogeneous appearance. The treatment of tardive dyskinesia, dystonia, myoclonus, tourettism, tremor and akathisia is challenging for both psychiatrists and neurologists. Lack of randomized and controlled examinations for many routinely applied clinical therapeutic options make the development of clinical guidelines difficult. The present review article summarizes the available evidence for the treatment of tardive syndromes. According to the treatment guideline published by the American Academy of Neurology in 2013, the usage of clonazepam, ginkgo biloba, amantadine and tetrabenazine has enough evidence to draw conclusions. Although lowering or stopping the eliciting agent, changing to atypical antipsychotics, and adding anticholinergics are widely used techniques, there are no convincing controlled studies available to support their efficacy. The usage of Vitamin E, levetiracetam, propranolol, botulinum toxin and deep brain stimulation may be promising treatment options in the future. PMID:25041749

  3. Juvenile polyposis syndrome.

    PubMed

    Cichy, Wojciech; Klincewicz, Beata; Plawski, Andrzej

    2014-06-29

    Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

  4. Juvenile polyposis syndrome.

    PubMed

    Whittle, D O; Lee, M G; Hanchard, B

    2010-06-01

    Juvenile polyposis syndrome (JPS) is rare and is present when there are multiple juvenile polyps in the gastrointestinal tract, usually the colon. The importance of this condition is the association with the development of colorectal and upper gastrointestinal cancer at a young age. We report the case of a 21-year old male with a two-year history of intermittent rectal bleeding and anal protrusion. Colonoscopy revealed multiple pedunculated cherry red polyps mainly in the left colon. Histology confirmed juvenile polyps. Juvenile polyposis syndrome should be considered in young patients with colonic symptoms, especially rectal bleeding. It is important to distinguish between patients with JPS and patients with an isolated harmatomatous juvenile polyp. PMID:21291112

  5. Juvenile polyposis syndrome

    PubMed Central

    Cichy, Wojciech; Klincewicz, Beata

    2014-01-01

    Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

  6. Floppy infant syndrome.

    PubMed

    Igarashi, Masanori

    2004-12-01

    Floppiness/hypotonia is a common neurologic symptom in infancy. A variety of neuromuscular disorders and central nervous system (CNS) disorders cause floppy infant syndrome (FIS). CNS disorders are the much more common causes of the syndrome than neuromuscular disorders. On long-term follow up, cerebral palsy and mental retardation turn out to be the 2 most common causes of FIS. This review focuses on neuromuscular causes of FIS. With the advent of molecular diagnosis, a few conditions can be diagnosed by DNA analysis of the peripheral lymphocytes (myotonic dystrophy, spinal muscular atrophy); however, for the most part, electrodiagnostic studies and muscle biopsy remain as essential diagnostic tools for FIS. Immunohistochemical study of the biopsied muscle also improves diagnostic capability. Management for most conditions remains supportive. PMID:19078754

  7. Paroxysmal alien hand syndrome.

    PubMed Central

    Leiguarda, R; Starkstein, S; Nogués, M; Berthier, M; Arbelaiz, R

    1993-01-01

    Four patients are described who presented with a paroxysmal form of the alien hand syndrome. Two patients with damage to one frontomedial cortex had brief episodes of abnormal motor behaviour of the contralateral arm that featured groping, grasping, and apparently purposeful but perseverative movements, which both patients interpreted as alien or foreign. The other two patients, with posterior parietal damage, reported a paroxysmal feeling of unawareness of the location of the contralateral arm, lack of recognition of the arm as their own, purposeless movements, and personification of the arm. These cases represent a new form of the alien hand syndrome manifested by brief, paroxysmal episodes, which may be due to ictal mechanisms. Images PMID:8331355

  8. Shaken baby syndrome

    PubMed Central

    Blumenthal, I

    2002-01-01

    Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. An American radiologist, John Caffey, coined the name whiplash shaken infant syndrome in 1974. It was, however, a British neurosurgeon, Guthkelch who first described shaking as the cause of subdural haemorrhage in infants. Impact was later thought to play a major part in the causation of brain damage. Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies. PMID:12509690

  9. The 9p- syndrome.

    PubMed

    Alfi, O S; Donnell, G N; Allderdice, P W; Derencsenyi, A

    1976-03-01

    Six patients (4 females and 2 males) with terminal deletion of the short arm of chromosome 9 distal to band p22 are described. The disorder constitutes a clinically identifiable syndrome consisting of mental retardation, sociable personality, trigonocephaly, mongoloid eyes, wide flat nasal bridge, anteverted nostrils, long upper lip, short neck, long digits mostly secondary to long middle phalanges, and predominance of whorls on fingers. The findings suggest that the clinical features are antithetical to the trisomy 9p syndrome. The deleted chromosome segment is relatively small and could be easily overlooked. It is hoped that this delineation of clinical features seen in 9,p- patients may help in focusing attention on the small deletion. PMID:1084115

  10. Growing Teratoma Syndrome

    PubMed Central

    Scavuzzo, Anna; Santana Ríos, Zael Arturo; Noverón, Nancy Reynoso; Jimenez Ríos, Miguel Angel

    2014-01-01

    Growing teratoma syndrome (GTS) is a rare clinical entity, which presents with enlarging teratomas masses of the retroperitoneum or other locations, occurring during or after systemic chemotherapy for the treatment of nonseminomatous germ cell of the testis (NSGCT), with normalised tumour markers. Awareness of this syndrome is necessary in order to prevent unnecessary chemotherapy and allow optimal management. Prognosis is excellent after the excision of these tumors, but surgery has to be as complete as possible. Surgical resection of bulky GTS lesions is technically challenging; intraoperative complications may occur; that is, why the treatment must not be delayed. Our experience in the surgical management of these lesions is reviewed in the following work. PMID:25197607

  11. [POPP syndrome: Psoriatic onychopachydermoperiostitis].

    PubMed

    Romiti, Ricardo; Santos, Denise; Carvalho, Jozélio; Arnone, Marcelo; Takahashi, Maria Denise F

    2013-01-01

    Psoriatic onychopachydermoperiostitis (POPP) syndrome characterizes a clinical variant of psoriatic arthritis originally described by Fournie et al in 1989. Both great toes are generally affected presenting with nail changes, painful swelling of the soft tissue close to the distal phalanx as well as specific radiologic changes such as periosteal reaction and bone erosions of the distal phalanges. Joint involvement is characteristically absent and classic psoriatic lesions may be associated. Painful symptoms may lead to severe functional and quality of life impairment. Traditional systemic treatment is generally frustrating. Here we report a female patient presenting POPP syndrome refractory to traditional systemic treatments and adalimumab, further presenting a favorable response to treatment with etanercept. PMID:24021366

  12. Nijmegen breakage syndrome (NBS)

    PubMed Central

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. Zespó? Nijmegen (Nijmegen breakage syndrome; NBS) jest rzadkim schorzeniem z wrodzon? niestabilno?ci? chromosomow? dziedzicz?cym si? w sposób autosomalny recesywny, charakteryzuj?cym si? przede wszystkim wrodzonym ma?og?owiem, z?o?onymi niedoborami odporno?ci i predyspozycj? do rozwoju nowotworów. Choroba wyst?puje najcz??ciej w populacjach s?owia?skich, w których uwarunkowana jest mutacj? za?o?ycielsk? w genie NBN (c.657_661del5). Do najwa?niejszych objawów zespo?u zalicza si?: ma?og?owie obecne od urodzenia i post?puj?ce z wiekiem, charakterystyczne cechy dysmorfii twarzy, opó?nienie wzrastania, niepe?nosprawno?? intelektualn? w stopniu lekkim do umiarkowanego oraz hipogonadyzm hipogonadotropowy u dziewcz?t. Na obraz choroby sk?adaj? si? tak?e: niedobór odporno?ci komórkowej i humoralnej, który jest przyczyn? nawracaj?cych infekcji, znaczna predyspozycja do rozwoju nowotworów z?o?liwych (zw?aszcza uk?adu ch?onnego), a tak?e zwi?kszona wra?liwo?? na promieniowanie jonizuj?ce. Wyniki bada? laboratoryjnych wykazuj?: (1) spontaniczn? ?amliwo?? chromosomów w limfocytach T krwi obwodowej, z preferencj? do rearan?acji chromosomów 7 i 14, (2) nadwra?liwo?? na promieniowanie jonizuj?ce lub radiomimetyki, co mo?na wykaza? metodami in vitro, (3) radiooporno?? syntezy DNA, (4) hipomorficzne mutacje na obu allelach genu NBN, oraz (5) brak w komórkach

  13. [Pendred's syndrome. Current features].

    PubMed

    Wémeau, J L; Vlaeminck-Guillem, V; Dubrulle, F; Dumur, V; Vincent, C

    2001-11-17

    Introduction Pendred's syndrome is a recessive autosomal disease, traditionally defined as the association of deaf-mutism, goiter and dysfunctional iodide organization revealed by the perchlorate discharge test. It represents 4 to 10% of the causes of congenital hypoacusis. Although described more than a 100 years ago, the association of thyroid and cochleo-vestibular damage remained unclear for many years. Genetic abnormalities Progress in molecular biology has revealed that the disease is related to alterations in the PDS gene situated on chromosome 7. The PDS gene is responsible for the production of pendrine, protein involved in anion (l-, Cl-) transportation, notably in the apical pole of the thyreocyte and the cochlear duct, where the endolympha is produced. Practical implications The truncation of pendrine related to the genetic alterations be responsible for the morpho-functional alterations in the cochlear apparatus and the thyroid. In this perspective, Pendred's syndrome would appear as a genetic disorder in anion transportation. PMID:11760600

  14. Delleman Oorthuys syndrome.

    PubMed

    Rizvi, Syed Wajahat A; Siddiqui, Mohammed Azfar; Khan, Adeeb A; Siddiqui, Ziya

    2015-01-01

    Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management. PMID:25624688

  15. [Sturge-Weber syndrome].

    PubMed

    Reith, W; Yilmaz, U; Zimmer, A

    2013-12-01

    Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369

  16. Genetics Home Reference: Peters plus syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Peters plus syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed September 2013 What is Peters plus syndrome? Peters plus syndrome is an inherited condition ...

  17. Genetics Home Reference: Coats plus syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Coats plus syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed April 2014 What is Coats plus syndrome? Coats plus syndrome is an inherited condition ...

  18. Genetics Home Reference: Multiple lentigines syndrome

    MedlinePLUS

    ... lentigines syndrome? Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to ...

  19. Genetics Home Reference: Bowen-Conradi syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Bowen-Conradi syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed February 2015 What is Bowen-Conradi syndrome? Bowen-Conradi syndrome is a disorder ...

  20. Genetics Home Reference: Smith-Magenis syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Magenis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2013 What is Smith-Magenis syndrome? Smith-Magenis syndrome is a developmental ...

  1. Genetics Home Reference: Floating-Harbor syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Floating-Harbor syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2012 What is Floating-Harbor syndrome? Floating-Harbor syndrome is a disorder ...

  2. Genetics Home Reference: Otopalatodigital syndrome type 1

    MedlinePLUS

    ... OMIM Genetic disorder catalog Conditions > Otopalatodigital syndrome type 1 On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed November 2007 What is otopalatodigital syndrome type 1? Otopalatodigital syndrome type 1 is a disorder primarily ...

  3. Genetics Home Reference: Juvenile polyposis syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Juvenile polyposis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed October 2013 What is juvenile polyposis syndrome? Juvenile polyposis syndrome is a disorder ...

  4. Radiology of syndromes and metabolic disorders

    SciTech Connect

    Taybi, H.; Lachman, R.

    1989-01-01

    The authors describe both the clinical and radiologic manifestations of 700 syndromes. They provide illustrations describing each syndrome and descriptions of those syndromes discovered since publication of a previous edition.

  5. Genetics Home Reference: Fragile X syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Fragile X syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed April 2012 What is fragile X syndrome? Fragile X syndrome is a genetic condition that ...

  6. Fragile X Syndrome (FXS): Related Concerns

    MedlinePLUS

    ... Form Controls NCBDDD Cancel Submit Search The CDC Fragile X Syndrome (FXS) Note: Javascript is disabled or is not ... message, please visit this page: About CDC.gov . Fragile X Syndrome Home Facts How Fragile X Syndrome is Inherited ...

  7. Genetics Home Reference: Dubin-Johnson syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Dubin-Johnson syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed March 2009 What is Dubin-Johnson syndrome? Dubin-Johnson syndrome is a condition characterized ...

  8. Hemorrhagic Fever with Renal Syndrome (HFRS)

    MedlinePLUS

    ... this page: About CDC.gov . Hantavirus Share Compartir Hemorrhagic Fever with Renal Syndrome (HFRS) On this Page What ... How is HFRS prevented? Suggested Reading What is hemorrhagic fever with renal syndrome? Hemorrhagic fever with renal syndrome ( ...

  9. Options for Treating Restless Legs Syndrome

    MedlinePLUS

    ... Consumer Summary – Aug. 30, 2013 Options for Treating Restless Legs Syndrome Formats View PDF (PDF) 759 kB Download Audio ( ... or physician assistant. Understanding Your Condition What is restless legs syndrome? Restless legs syndrome (RLS) is a disorder of ...

  10. Genetics Home Reference: Osteoporosis-pseudoglioma syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Osteoporosis-pseudoglioma syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed January 2013 What is osteoporosis-pseudoglioma syndrome? Osteoporosis-pseudoglioma syndrome is a rare ...

  11. Thalidomide in Treating Patients With Myelodysplastic Syndrome

    ClinicalTrials.gov

    2013-01-23

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes

  12. Rotational vertebral artery syndrome

    Microsoft Academic Search

    Sarah Marti; Stefan Hegemann; Hans-Christian von Büdingen; Ralf W. Baumgartner; Dominik Straumann

    2008-01-01

    Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited\\u000a by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral\\u000a peripheral or central vestibular structures, is still debated. We report on a patient with bilateral high-grade carotid stenoses,\\u000a in whom rightward headrotation led to RVAS symptoms including

  13. “Secondary” Polycystic Ovary Syndrome

    Microsoft Academic Search

    Gregory Kaltsas; George Chrousos

    Hyperandrogenism and menstrual irregularities are the most common endocrine symptoms in premenopausal women. The vast majority\\u000a of these women suffer from the polycystic ovary syndrome (PCOS), which is defined as a state of “gonadotropin-dependent functional\\u000a hyperandrogenism and oligo-anovulation” in which no distinct autonomous source of androgen secretion is identified. PCOS is\\u000a a chronic disorder characterized by specific clinical, endocrine, and

  14. Klinefelter syndrome: Case report

    PubMed Central

    CAPASSO, F.; PANETTA, F.; IERARDO, G.; PARISELLA, V.; POLIMENI, A.

    2010-01-01

    SUMMARY Objectives. The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Methodos. Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Result. Interceptive therapy aims to eliminate the functional interference that occurs during growth. Conclusion. For this reason it’s a must for the dentist to carefully monitor the oral health of the small patient immediately. PMID:23285366

  15. Blueberry muffin syndrome

    PubMed Central

    Benmiloud, Sarra; Elhaddou, Ghizlane; Belghiti, Zoubida Alaoui; Hida, Moustapha; Bouharrou, Abdelhak

    2012-01-01

    Le Blueberry Muffin Baby est un syndrome cutané rare observé en période néonatale. Il est caractérisé par des papulo-nodules disséminés inflammatoires traduisant des réactions d'hématopoïèse dermique. Plusieurs causes doivent être recherchées, notamment les infections congénitales, une hémolyse sévère et les pathologies tumorales. Nous rapportons l'observation d'un nouveau-né chez qui l'aspect d'un Blueberry muffin baby a conduit au diagnostic d'une leucémie aiguë myéloïde. PMID:23308328

  16. Jaws revisited: Costen's syndrome.

    PubMed

    Michael, L A

    1997-10-01

    Although James Costen was not the first to ascribe ear pain, tinnitus, impaired hearing, and even dizziness to temporomandibular joint dysfunction, he developed an integrated and systematic approach ascribing the symptoms to dental malocclusion. He wrote extensively on it, and a few years after his original article, the term Costen's syndrome came into general use. Recently, the use of the eponym has decreased, as dental malocclusion has assumed a lesser role in explaining many of the symptoms formerly ascribed to it. PMID:9342977

  17. The Night Eating Syndrome

    Microsoft Academic Search

    Grethe Støa Birketvedt; Jon R. Florholmen

    The typical behavioral characteristics of the night eating syndrome have been described as morning anorexia, evening hyperphagia\\u000a and insomnia. The neuroendocrine characteristics have been described as changes in the circadian rhythm by an attenuation\\u000a in the nocturnal rise of the plasma concentrations of melatonin and leptin and an increased circadian secretion of cortisol.\\u000a The night eaters also have an overexpressed

  18. The Metabolic Syndrome

    Microsoft Academic Search

    Aoife M. Brennan; Laura Sweeney; Christos S. Mantzoros

    The metabolic syndrome refers to the clustering of metabolic abnormalities more frequently than would be expected by chance\\u000a alone. These metabolic abnormalities are all risk factors for cardiovascular disease (CVD), and the epidemiological association\\u000a between these multiple risk factors points to the possibility of a unifying underlying pathophysiology. Obesity, in particular\\u000a visceral adiposity, insulin resistance, and some degree of abnormal

  19. Rett Syndrome – an update

    Microsoft Academic Search

    K. A. Jellinger

    2003-01-01

    Summary.   Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in\\u000a early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech\\u000a and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs\\u000a almost exclusively in females with an estimated prevalence of 1 in 10–22,000

  20. Burning Mouth Syndrome

    PubMed Central

    Mock, David; Chugh, Deepika

    2010-01-01

    Most clinicians dread seeing the patient presenting with a primary complaint of a burning pain on one or more oral mucosal surfaces. Unlike most other clinical conditions presenting in a dental office, burning mouth syndrome is poorly understood with few evidence based remedies. More recently, advances have been made towards clarifying the possible etiology of the disorder and testing the possible therapeutic modalities available. This article attempts to summarize the “state of the art” today. PMID:20690412

  1. Das kryoglobulinämische Syndrom

    Microsoft Academic Search

    P. Lamprecht; Zusammenfassung Der Tagung

    2004-01-01

    Zusammenfassung. Der Tagung ging ein Treffen einer neu initiierten Expertengruppe mit dem Ziel einer Evaluierung, Testung und Erarbeitung von Klassifikationskriterien für das kryoglobulinämische Syndrom voraus. Auf der Tagung wurden die Ergebnisse verschiedener Studien zur möglichen Rolle von Infektionen, insbesondere der Hepatitis C-Virus( HCV)- und Cytomegalovirus (CMV)-Infektion, in der Pathogenese von Autoimmunerkrankungen vorgestellt. Eine Kreuzreaktivität von CMV-Proteinen mit verschiedenen Autoantigenen könnte

  2. CHARGE syndrome: an update

    Microsoft Academic Search

    Damien Sanlaville; Alain Verloes

    2007-01-01

    CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2\\/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic

  3. Metabolic cutis laxa syndromes

    Microsoft Academic Search

    Miski Mohamed; Dorus Kouwenberg; Thatjana Gardeitchik; Uwe Kornak; Ron A. Wevers; Eva Morava

    2011-01-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis\\u000a of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired\\u000a condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular\\u000a matrix proteins. Surprisingly

  4. Kallmann syndrome: MRI findings.

    PubMed

    Zaghouani, Houneida; Slim, Ines; Zina, Neila Ben; Mallat, Najoua; Tajouri, Houda; Kraiem, Chakib

    2013-10-01

    Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder. Magnetic resonance (MR) imaging is used to visualize the olfactory tracts and to evaluate the olfactory sulci. Five patients who clinically had hypogonadotrophic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine presence or absence of olfactory tract and to evaluate the olfactory sulci. PMID:24251137

  5. Sturge-Weber Syndrome

    Microsoft Academic Search

    Ignacio Pascual-Castroviejo; Orhan Konez; Concezio Di Rocco; Martino Ruggieri

    \\u000a Sturge-Weber syndrome (SWS) (OMIM # 185300), also known as encephalofacial or encephalotrigeminal angiomatosis or meningofacial angiomatosis, is\\u000a a (usually) sporadic congenital neurocutaneous disorder affecting the cephalic venous microvasculature. The hallmark anomaly\\u000a is a capillary malformation affecting: (a) the brain and meninges with or without involvement of (b) the choroid and\\/or episclera\\u000a or conjunctive and (c) the skin (the latter typically

  6. Tourette’s Syndrome

    Microsoft Academic Search

    Kirsten R. Müller-Vahl

    \\u000a Tourette’s syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour\\u000a disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that\\u000a are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports\\u000a and preliminary controlled studies it is

  7. [Richards-Rundle syndrome].

    PubMed

    Fehlow, P; Walther, F

    1991-01-01

    Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of Richards Rundle syndrome, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, deafness, ataxia, wasting of muscles and reduced jerks. In cases of hypogonadism and hypogenitalism should be searched for mental and neurologic disorders, also for genetic counseling of the siblings. PMID:1857055

  8. Gitelman syndrome and pregnancy

    PubMed Central

    Moustakakis, Michael N.; Bockorny, Margarita

    2012-01-01

    Gitelman syndrome (GS) is an autosomal-recessive condition characterized by hypokalemia, hypomagnesemia and hypocalciuria. Very little information is available in the literature to guide the management of pregnant patients with GS. We report a case of a 27-year-old woman with GS who became pregnant and despite persistent hypokalemia and hypomagnesemia during pregnancy and labor, had a successful maternal and fetal outcome.

  9. Focal cortical atrophy syndromes.

    PubMed

    Black, S E

    1996-07-01

    The topography of Alzheimer's disease (AD) and its effects on language, perception, and praxis are briefly reviewed as background to the focal cortical atrophy syndromes, including primary progressive aphasia (PPA), posterior cortical atrophy (PCA), and corticobasal degeneration (CBD). Simplistically speaking, there are two main pathological and neuroimaging phenotypes associated with these syndromes. One is frontotemporal degeneration (FTD), a nonspecific spongiform degeneration, with gliosis and neuronal loss, sometimes with Pick cells and bodies, which is usually selective for frontal and anterior temporal cortex. The other is Alzheimer's disease, in which amyloid plaques and neurofibrillary tangles initially develop in the hippocampal region, and spread to the lateral temporal and parietal neocortex and then to the frontal cortex. In the case of PPA, left perisylvian dysfunction is usually evident at presentation clinically and on neuroimaging. Nonfluent progressive aphasia tends to progress anteriorly and is usually associated with FTD. In fluent progressive aphasia, the pathology may progress anteriorly due to FTD or posteriorly, reflecting AD. In PCA, the visual association cortex is targeted bilaterally, often more so on the right, and the pathology is usually indicative of AD. CBD is an asymmetric akinetic-rigid syndrome associated with apraxia, in which swollen achromatic neurons are present in the frontoparietal cortex and substantia nigra on light microscopy, suggesting to some that it may fall within the spectrum of FTD and Pick's disease. The application of new molecular biological techniques, however, suggest that CBD, FTD, and Pick's Disease may be pathologically distinct. The clinico-pathological features of each syndrome are reviewed and compared to those typical for AD, and single photon emission computerized tomography scans representative for each are illustrated. PMID:8811996

  10. Spontaneous ovarian hyperstimulation syndrome.

    PubMed

    Kasum, Miro; Oreskovi?, Slavko; Jezek, Davor

    2013-06-01

    Spontaneous forms of the ovarian hyperstimulation syndrome (sOHSS) are nearly always reported between 8 and 14 weeks of pregnancy and also with follicle-stimulating hormone (FSH) producing pituitary adenoma. The syndrome has been previously reported in rare instances of increased production of human chorionic gonadotrophin (hCG) such as multiple pregnancies, hydatiforme mole, polycystic ovary disease and elevated concentrations of thyroid-stimulating hormone (TSH) in hypothyreoidism. High levels of these hormones are able to stimulate by natural promiscuous activation the wild-type FSHr, resulting in sporadic presentations of the syndrome. Since 2003, only six different activating FSHr gene mutations have been reported in cases of familial or habitual sOHSS. In addition to five mutations which have been found in the transmembrane helices (Asp567Asn, Asp567Gly, Thr449Ile, Thr449Ala, Ile545Thr), the first germline mutation (c.383C > A, p. Ser 128 Tyr) in the extracelullar domain was identified. All five mutants were abnormally activated by TSH and normal levels of hCG while displaying constitutive activity. In contrast to these mutations, the p.Ser128Tyr mutant displayed an increase in sensitivity only toward hCG. Accordingly, the mutated FSHrs, may be hyperstimulated by the pregnancy-derived hCG or TSH, inducing the occurrence of the syndrome. In the differential diagnosis, malignancy, pregnancy luteoma and hyperreactio luteinalis would have to be excluded. In almost all of the cases the disease regresses spontaneously and could be managed expectantly or conservatively, but with termination of pregnancy or surgery in cases of complications. PMID:23941020

  11. Budd-Chiari Syndrome

    Microsoft Academic Search

    Susana Seijo-Ríos; Puneeta Tandon; Jaime Bosch; Juan Carlos García-Pagán

    \\u000a The Budd-Chiari syndrome (BCS) is an uncommon and life-threatening disorder defined as the obstruction of hepatic venous outflow\\u000a regardless of its causative mechanism or level of obstruction. The clinical presentation of BCS is highly variable and can\\u000a range from asymptomatic cases to ­fulminant hepatic failure with encephalopathy. In the vast majority of cases, it is possible\\u000a to identify an inherited

  12. Fragile X syndrome

    Microsoft Academic Search

    Kathryn B Garber; Jeannie Visootsak; Stephen T Warren

    2008-01-01

    Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5?-untranslated region. The FMR1 gene product, FMRP,

  13. Cardiorenal versus Renocardiac Syndrome

    Microsoft Academic Search

    Mohammad Sarraf; Amirali Masoumi; Robert W. Schrier

    \\u000a Many national registries and epidemiological observations have revealed a strong correlation between morbidity and mortality\\u000a of patients with cardiovascular disease and kidney dysfunction. In patients with heart failure, renal dysfunction is highly\\u000a prevalent. Even mild to moderate renal dysfunction in patients with congestive heart failure, i.e., cardiorenal syndrome,\\u000a leads to significant increase in morbidity and mortality. The mechanisms underlying this

  14. Sturge-Weber syndrome

    Microsoft Academic Search

    Eulalia Baselga

    2004-01-01

    Sturge-Weber syndrome is a sporadic neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal hemangioma) and leptomeningeal angioma. Although the precise pathogenesis is unknown, available data regarding genetics, embryogenesis, and pathologic features are briefly reviewed. Clinical features vary from mild incomplete forms to full-blown disease with facial stain, seizures, and glaucoma. Frequencies of associated complications are reviewed.

  15. Post-polio syndrome

    Microsoft Academic Search

    Bruk Jubelt

    2004-01-01

    Opinion statement  \\u000a Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute\\u000a poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics\\u000a of poliomyelitis in the 1940s and 1950s. PPS is manifested by

  16. [The hyperventilation syndrome].

    PubMed

    Sauty, Alain; Prosper, Michel

    2008-11-19

    The hyperventilation syndrome is a disease affecting children as well as adults. It predominates in female and may be debilitating. It is frequently associated with anxiety. The diagnosis, that is unfortunately often belated, is a diagnosis of exclusion and relies on the anamnesis, various non specific signs, on the Nijmegens score and on a hyperventilation provocation test. A specialized treatment allows, in most cases, a good control of ventilation and the disappearance of symptoms. PMID:19127893

  17. Smith-Lemli-Opitz-syndrome

    PubMed Central

    Gedam, Rachana; Shah, Ira; Ali, Uma; Ohri, Alpana

    2012-01-01

    Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase. We describe one such child with Smith-Lemli-Opitz syndrome. This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and renal anomalies with failure to thrive. PMID:23162303

  18. Capgras Syndrome in Postictal Delirium

    PubMed Central

    Joshi, Devavrat; Koirala, Sharad; Lamichhane, Sachin; Paladugu, Anubha; Johal, Rupinder

    2010-01-01

    A 34-year-old man with a seizure disorder had not been taking anticonvulsant medications regularly. A previous pattern of recurrent seizures resolved after restarting anticonvulsant drugs. Recent seizure episodes were followed by delirium and presentation of Capgras syndrome. A variety of functional and organic etiologies for Capgras syndrome are known. This syndrome has been documented in cases of postictal delirium. These symptoms along with delirium ended with seizure control once back on anticonvulsant medicines. PMID:20436774

  19. Recurrent Tolosa-Hunt Syndrome

    Microsoft Academic Search

    Jan Hannerz

    1992-01-01

    Twenty consecutive patients with recurrent Tolosa-Hunt syndrome were studied. One had a parent who suffered from recurrent Tolosa-Hunt syndrome. Thirty-three percent of the patients had also recurrent periods of weeks to months of unilateral periorbital pain without ophthalmoplegia. One patient had cluster headache before the Tolosa-Hunt syndrome started. Some patients had involvement of cranial nerves outside the cavernous sinus region

  20. Otolaryngologic manifestations of craniofacial syndromes.

    PubMed

    Swibel Rosenthal, Laura H; Caballero, Nadieska; Drake, Amelia F

    2012-06-01

    This review describes important aspects of the most commonly encountered craniofacial syndromes. The goal is to provide otolaryngologists and other health care providers with critical information necessary to manage these patients appropriately. The algorithm provided in this article should be helpful in guiding the treatment of craniofacial patients based on their unique otolaryngologic characteristics. The principles highlighted in the algorithm can be applied to other craniofacial syndromes not addressed here, including Pierre Robin sequence and Down syndrome. PMID:22588037

  1. Surgery for Tourette syndrome.

    PubMed

    Ackermans, Linda; Kuhn, Jens; Neuner, Irene; Temel, Yasin; Visser-Vandewalle, Veerle

    2013-01-01

    Tourette syndrome is a chronic neuropsychiatric disorder characterized by motor and vocal tics. In the majority of cases, tics are associated by behavioral disorders such as obsessive-compulsive behavior. First symptoms typically appear in early childhood. Mostly symptoms disappear when adulthood is reached. Treatment options consist of behavioral therapy and medication. In refractory cases, surgery may be an option. In the past, several attempts have been made to treat therapy-refractory patients through neurosurgical ablative procedures. In 1999, deep brain stimulation was introduced as a novel treatment option for patients with intractable Tourette syndrome. Up until now, five brain areas have been used or suggested as potential target areas for deep brain stimulation in Tourette syndrome. In the majority of the published cases, there is a clear effect on tics but most studies consist of only a limited number of patients. A strict patient selection is absolutely mandatory. There is a need for double-blinded multicenter trials with inclusion of more patients. PMID:22722039

  2. Acute compartment syndrome

    PubMed Central

    Via, Alessio Giai; Oliva, Francesco; Spoliti, Marco; Maffulli, Nicola

    2015-01-01

    Summary Background: acute compartment syndrome (ACS) is one of the few true emergencies in orthopedics and traumatology. It is a painful condition caused by the increase interstitial pressure (intracompart-mental pressure – ICP) within a closed osteofascial compartment which impair local circulation. It occurs most often in the legs, but it can affects also the arms, hands, feet, and buttocks. It usually develops after a severe injury such as fractures or crush injury, but it can also occurs after a relatively minor injury and it may be iatrogenic. Uncommon causes of ACS have been also described, that suggest surgeons to pay great attention to this serious complication. Diagnosing ACS is difficult in clinical practice, even among expert surgeons. Currently, the diagnosis is made on the basis of physical examination and repeated ICP measures. ICP higher than 30 mmHg of diastolic blood pressure is significant of compartment syndrome. Once diagnosis is made, fasciotomy to release the affected compartment should be performed as early as possible because delayed decompression would lead to irreversible ischemic damage to muscles and peripheral nerves. Conclusion: acute compartment syndrome is a surgical emergency. There is still little consensus among authors about diagnosis and treatment of these serious condition, in particular about the ICP at which fasciotomy is absolutely indicated and the timing of wound closure. New investigations are needed in order to improve diagnosis and treatment of ACS. PMID:25878982

  3. Tourette Syndrome: Update.

    PubMed

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  4. [New epileptic syndromes].

    PubMed

    Serratosa, J M

    1999-05-01

    The recent and increasing interest for previously undescribed forms of epilepsy has been due to the description of families in which several affected members presented specific forms of epilepsy. Most epilepsies representing the description of new epilepsy phenotypes are partial epilepsies, although a new form of generalized epilepsy (generalized epilepsy with febrile seizures plus or GEFS+) has also been described. Our understanding of the clinical and genetic characteristics of the new familial epilepsy syndromes and the identification of informative families should accelerate the discovery of the basic mechanisms implicated in the production of partial seizures. The recent description of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy, its localization to chromosome 20, the identification of the responsible gene (the alpha 4 subunit of the nicotinic cholinergic receptor) and the characterization of a mutation in two families are a good example. The recognition of the new epilepsy syndromes is of great interest for clinical neurologists and should lead to the establishment of more precise prognoses and therapies. In those families with several affected members, genetic knowledge may be important for genetic counseling purposes. PMID:10379163

  5. Metabolic cutis laxa syndromes.

    PubMed

    Mohamed, Miski; Kouwenberg, Dorus; Gardeitchik, Thatjana; Kornak, Uwe; Wevers, Ron A; Morava, Eva

    2011-08-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa. Menkes disease was the first metabolic disease reported with old-looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation. The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG). Since then several inborn errors of metabolism with cutis laxa have been described with variable severity. These include P5CS, ATP6V0A2-CDG and PYCR1 defects. In spite of the evolving number of cutis laxa-related diseases a large part of the cases remain genetically unsolved. In metabolic cutis laxa syndromes the clinical and laboratory features might partially overlap, however there are some distinct, discriminative features. In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes. PMID:21431621

  6. Acute Mirizzi Syndrome

    PubMed Central

    2009-01-01

    Background: Mirizzi syndrome is a rare complication of cholecystolithiasis characterized by jaundice due to compression of the common hepatic duct. The diagnosis may not be immediately apparent, and management is controversial with open surgery still recommended by some authors. Method: A case is detailed herein of a 67-year-old man who presented with abdominal pain, fever, and jaundice. A dilated bile duct was found on ultrasound, but the gallbladder could not be seen. The diagnosis of Mirizzi syndrome was made at ERCP, and a stent was placed through the papilla. Laparoscopic retrograde (fundus first) cholecystectomy was carried out utilizing a laparoscopic liver retractor. Results: In this particular case, it was not possible at ERCP to get a guidewire and stent past the obstruction. A stent was left through the papilla, below the obstruction and this allowed primary duct closure during surgery. Conclusion: Acute Mirizzi syndrome should be suspected when a patient presents with acute cholecystitis and jaundice with dilated intrahepatic ducts on ultrasound. ERCP is useful to confirm the diagnosis and allows stenting to alleviate the jaundice and facilitate the subsequent operation. Laparoscopic ultrasound is useful to locate the impacted stone and to partially replicate the touch of the surgeon's hand, which is not available in laparoscopic surgery. PMID:19366554

  7. Update on Kleefstra Syndrome

    PubMed Central

    Willemsen, M.H.; Vulto-van Silfhout, A.T.; Nillesen, W.M.; Wissink-Lindhout, W.M.; van Bokhoven, H.; Philip, N.; Berry-Kravis, E.M.; Kini, U.; van Ravenswaaij-Arts, C.M.A.; Delle Chiaie, B.; Innes, A.M.M.; Houge, G.; Kosonen, T.; Cremer, K.; Fannemel, M.; Stray-Pedersen, A.; Reardon, W.; Ignatius, J.; Lachlan, K.; Mircher, C.; Helderman van den Enden, P.T.J.M.; Mastebroek, M.; Cohn-Hokke, P.E.; Yntema, H.G.; Drunat, S.; Kleefstra, T.

    2012-01-01

    Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority had a 9q34.3 microdeletion (>85%). So far, no clear genotype-phenotype correlation could be observed by studying the clinical and molecular features of both 9q34.3 microdeletion patients and patients with an intragenic EHMT1 mutation. Thus, to further expand the genotypic and phenotypic knowledge about the syndrome, we here report 29 newly diagnosed patients, including 16 patients with a 9q34.3 microdeletion and 13 patients with an EHMT1 mutation, and review previous literature. The present findings are comparable to previous reports. In addition to our former findings and recommendations, we suggest cardiac screening during follow-up, because of the possible occurrence of cardiac arrhythmias. In addition, clinicians and caretakers should be aware of the regressive behavioral phenotype that might develop at adolescent/adult age and seems to have no clear neurological substrate, but is rather a so far unexplained neuropsychiatric feature. PMID:22670141

  8. Reversible cerebral vasoconstriction syndrome.

    PubMed

    Calic, Z; Cappelen-Smith, C; Zagami, A S

    2015-06-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-radiological syndrome characterised by severe thunderclap headaches with or without other neurological symptoms and multifocal constriction of cerebral arteries that usually resolves spontaneously within 3 months. Most patients recover completely, but up to 10% have a permanent neurological disability and some even die. Previously RCVS has been described in many clinical contexts and under different names with the term RCVS first being suggested in 2007 to unify the group. The condition may be spontaneous, but in up to 60% of cases it is secondary to another cause, including vasoactive substances (medications and illicit drugs), blood products and the post-partum state. It is believed to have a similar pathophysiological mechanism to the posterior reversible encephalopathy syndrome (PRES), and both can occur in similar clinical contexts and are frequently associated. Treatment options include calcium channel antagonists. RCVS occurs in a broad range of clinical situations making it an increasingly recognised condition about which doctors in various specialties need to be aware. PMID:25511128

  9. Genetics Home Reference: Cohen syndrome

    MedlinePLUS

    ... glossary definitions help with understanding Cohen syndrome? autosomal ; autosomal recessive ; cell ; developmental delay ; disability ; gene ; hypermobility ; hypotonia ; incidence ; inherited ; joint ; microcephaly ; muscle tone ; myopia ; ...

  10. Genetics Home Reference: Vohwinkel syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Vohwinkel syndrome? acids ; autosomal ; autosomal dominant ; cell ; cochlea ; congenital ; connexin ; epidermis ; ...

  11. Genetics Home Reference: GRACILE syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding GRACILE syndrome? acidosis ; acids ; aciduria ; autosomal ; autosomal recessive ; bile ; cell ; cirrhosis ; digestive ; ...

  12. Do you know this syndrome?

    PubMed

    Almeida, Luiz Maurício Costa; Diniz, Michelle dos Santos; Diniz, Lorena dos Santos

    2012-01-01

    Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required. PMID:22714776

  13. Arteriovenous malformations in Cowden syndrome.

    PubMed

    Turnbull, M M; Humeniuk, V; Stein, B; Suthers, G K

    2005-08-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder. PMID:16061556

  14. The equine metabolic syndrome peripheral Cushing's syndrome.

    PubMed

    Johnson, Philip J

    2002-08-01

    Certain management practices tend to promote the development of obesity (metabolic syndrome) in mature horses as they enter their teenage years. These management practices include the provision of starch-rich (high glycemic index) and fat-supplemented rations to healthy horses that are relatively inactive. Some horse breeds and ponies appear to be genetically predisposed to metabolic syndrome. The accretion of intra-abdominal adiposity by equids is associated with the development of insulin insensitivity (hyperinsulinemia), glucose intolerance, dyslipidemia, hypertension, and insidious-onset laminitis. Omental adipocytes are metabolically active, secreting free fatty acids and hormonally active mediators including cortisol, leptin, and resistin that might contribute to persistence and worsening of insulin refractoriness and the obese phenotype. We have hypothesized that obesity-associated laminitis arises as a consequence of vascular changes and a hypercoagulable state, similar to the development of atherosclerosis in human type 2 diabetes. Several molecular mechanisms that might serve to explain the development of insulin insensitivity as a result of excessive adiposity have been incriminated. Little investigation into the relationship between obesity, insulin insensitivity, and laminitis in horses has been reported to date. Insulin sensitivity and glucose tolerance can be improved by dietary restriction and exercise aimed at reversing omental obesity. Management practices that promote the development of obesity are likely initiated during the first 10 years of the horse's life. Veterinarians and horse owners must recognize that mature-onset obesity in adult horses is associated with a risk for development of laminitis. Obesity and insulin insensitivity might be prevented if horse owners can be educated to feed rations with a relatively lower glycemic index to inactive horses. Investigative research pertaining to the development of antiobesity drugs for human patients is continuing. Greater than 30 new pharmaceuticals are in various stages of research. However, it will likely take many years before any of these drugs are shown to be useful and safe in horses. Lifestyle changes in the form of diet and exercise patterns are still the crux of therapy for both human and equine patients. PMID:15635908

  15. Genetics Home Reference: Ophthalmo-acromelic syndrome

    MedlinePLUS

    ... syndrome Waardenburg anophthalmia syndrome For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes ...

  16. Guillain-Barré syndrome.

    PubMed

    Hughes, Richard A C; Cornblath, David R

    2005-11-01

    Guillain-Barré syndrome consists of at least four subtypes of acute peripheral neuropathy. Major advances have been made in understanding the mechanisms of some of the subtypes. The histological appearance of the acute inflammatory demyelinating polyradiculoneuropathy (AIDP) subtype resembles experimental autoimmune neuritis, which is predominantly caused by T cells directed against peptides from the myelin proteins P0, P2, and PMP22. The role of T-cell-mediated immunity in AIDP remains unclear and there is evidence for the involvement of antibodies and complement. Strong evidence now exists that axonal subtypes of Guillain-Barré syndrome, acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN), are caused by antibodies to gangliosides on the axolemma that target macrophages to invade the axon at the node of Ranvier. About a quarter of patients with Guillain-Barré syndrome have had a recent Campylobacter jejuni infection, and axonal forms of the disease are especially common in these people. The lipo-oligosaccharide from the C jejuni bacterial wall contains ganglioside-like structures and its injection into rabbits induces a neuropathy that resembles acute motor axonal neuropathy. Antibodies to GM1, GM1b, GD1a, and GalNac-GD1a are in particular implicated in acute motor axonal neuropathy and, with the exception of GalNacGD1a, in acute motor and sensory axonal neuropathy. The Fisher's syndrome subtype is especially associated with antibodies to GQ1b, and similar cross-reactivity with ganglioside structures in the wall of C jejuni has been discovered. Anti-GQ1b antibodies have been shown to damage the motor nerve terminal in vitro by a complement-mediated mechanism. Results of international randomised trials have shown equivalent efficacy of both plasma exchange and intravenous immunoglobulin, but not corticosteroids, in hastening recovery from Guillain-Barré syndrome. Further research is needed to discover treatments to prevent 20% of patients from being left with persistent and significant disability. PMID:16271648

  17. Hyperventilation and exhaustion syndrome

    PubMed Central

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification – F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called ‘Grounding’, a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients’ average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = ?3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = ?0.514, p < 0.01), pain (r = ?.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = ?0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R2 = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. PMID:24134551

  18. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

    SciTech Connect

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J. [La Paz Hospital, Madrid (Spain)

    1994-11-01

    The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.

  19. Prevalence of Carpal Tunnel Syndrome among Individuals with Down Syndrome.

    ERIC Educational Resources Information Center

    Christensen, Jens Erik Just; Peter, Peter Johannsen; Nielsen, Viggo Kamp; Mai, Jesper

    1998-01-01

    Forty-eight patients with Down syndrome were examined clinically and electrophysiologically for occurrence of carpal tunnel syndrome. Twenty-seven patients had normal findings, 13 had prolonged distal motor latency and reduced distal nerve conduction velocity, and 8 patients had one of these signs. Results show that prevalence of…

  20. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).

    PubMed

    Sakai, Noriyasu; Maeda, Tatsuro; Kawakami, Hiroshi; Uchiyama, Masaki; Harada, Kazutoshi; Tsuboi, Ryoji; Mitsuhashi, Yoshihiko

    2015-07-01

    Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly. PMID:25981987

  1. Fever during alcohol withdrawal syndrome

    Microsoft Academic Search

    E Otero-Antón; A González-Quintela; J Saborido; C Mart??nez-Rey; J. A Torre; E Barrio

    1999-01-01

    Background: Fever is considered common during alcohol withdrawal, but there are very few reports focused on this problem. The aim of the present study was to evaluate the prevalence and causes of fever in patients admitted to the hospital with alcohol withdrawal syndrome. Methods: A total of 110 episodes of alcohol abstinence syndrome (10 cases of tremulousness and anxiety, 38

  2. Genetic aspects of Sjögren's syndrome

    Microsoft Academic Search

    Anne Isine Bolstad; Roland Jonsson

    2002-01-01

    Sjögren's syndrome is a multisystem inflammatory rheumatic disease that is classified into primary and secondary forms, with cardinal features in the eye (keratoconjunctivitis sicca) and mouth (xerostomia). The aetiology behind this autoimmune exocrinopathy is probably multifactorial and influenced by genetic as well as by environmental factors that are as yet unknown. A genetic predisposition to Sjögren's syndrome has been suggested

  3. Genetics Home Reference: RAPADILINO syndrome

    MedlinePLUS

    ... stature in affected individuals. Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a ...

  4. Pustular rash in Kawasaki syndrome.

    PubMed

    Ulloa-Gutierrez, Rolando; Acón-Rojas, Fabiola; Camacho-Badilla, Kattia; Soriano-Fallas, Alejandra

    2007-12-01

    The skin rash of Kawasaki syndrome is usually erythematous. A 23-month-old Costa Rican boy was admitted with a clinical picture compatible with Kawasaki syndrome, except for his skin lesions. He had diffuse, confluent, multiple sterile whitish pustular lesions on his chest, abdomen, neck, genitals, and thighs. PMID:18043462

  5. The Source for Asperger's Syndrome.

    ERIC Educational Resources Information Center

    Kowalski, Timothy P.

    This book is intended as a comprehensive source of information on the diagnosis and treatment of Asperger syndrome. Chapter 1 discusses major classification of characteristics and chapter 2 describes prevalence, comorbidity, and causal factors of Asperger syndrome. Chapter 3 examines clinical diagnosis and misdiagnosis and the influence of…

  6. Le syndrome de Koro

    Microsoft Academic Search

    E. Stip; T. Bergeron; C. Lavigueur; J. L. Fabian; L. Ait Bentaleb

    2007-01-01

    Objective. – To investigate a rare psychiatric disorder called “Koro” which is usually described as a culture-specific syndrome in Asian cultures. This syndrome is manifested by intense anxiety associated with the fear of genital retraction and the belief that complete disappearance of the penis into the abdomen will result in death. Even though some cases have been reported in non-Asian

  7. Exercise, Sports and Tourette Syndrome

    MedlinePLUS

    Exercise, Sports and Tourette Syndrome by Mitzi Waltz Soccer star Tim Howard, baseball MVP Jim Eisenreich, and NASCAR driver Steve Wallace have something in common. You probably already know that it’s Tourette syndrome. There’s more than a diagnosis connecting these ...

  8. Reaching Kids with Asperger's Syndrome

    ERIC Educational Resources Information Center

    Phemister, Art

    2005-01-01

    This article deals with Asperger's syndrome. This disorder has been described in terms of social deficits with cognitive skills remaining preserved in the afflicted individual. The essential characteristics of children with Asperger's Syndrome are that they possess qualitative impairment in social relationships, impairment in verbal and nonverbal…

  9. Tactile Sensitivity in Asperger Syndrome

    ERIC Educational Resources Information Center

    Blakemore, Sarah-Jayne; Tavassoli, Teresa; Calo, Susana; Thomas, Richard M.; Catmur, Caroline; Frith, Uta; Haggard, Patrick

    2006-01-01

    People with autism and Asperger syndrome are anecdotally said to be hypersensitive to touch. In two experiments, we measured tactile thresholds and suprathreshold tactile sensitivity in a group of adults with Asperger syndrome. In the first experiment, tactile perceptual thresholds were measured. Two frequencies of vibrotactile stimulation were…

  10. Sick sinus syndrome in childhood

    Microsoft Academic Search

    H Ector; L G Van der Hauwaert

    1980-01-01

    The clinical and electrocardiographic findings in five children with the sick sinus syndrome and an otherwise normal heart are described. There were three boys and two girls. Their age at onset of either bradycardia or symptoms ranged from 1 day to 7 years. In one patient, the youngest ever reported with this syndrome, bradycardia was noted before birth. Four children

  11. Seminar on Usher's Syndrome: Proceedings.

    ERIC Educational Resources Information Center

    Rochester School for the Deaf, NY.

    Summarized are the presentation of M. Vernon and the Comments of primary panelists from a seminar on Usher's Syndrome, a genetic disease involving congenital deafness and progressive loss of vision due to retinitis pigmentosa. The following topics are addressed: genetics today, nature of Usher's Syndrome, symptoms, prevalence, lay diagnosis for…

  12. Le syndrome des abcès aseptiques

    Microsoft Academic Search

    M. André; O. Aumaître

    2011-01-01

    Aseptic abscesses syndrome is a systemic disorder of unknown etiology involving polymorphonuclear neutrophil. Typical presentation of aseptic abscesses syndrome includes fever, abdominal pain and leukocytosis, and is characterized by the presence of intra-abdominal aseptic lesions consisting of neutrophils. The diagnosis relies on a combination of a typical clinical and radiological presentation, the pathological findings, and the exclusion of alternative diagnosis,

  13. [Lemierre syndrome revealed by torticollis].

    PubMed

    Ben Abdallah Chabchoub, R; Riquet, A; Ramdane, A; Vallée, L; Raccoussot, S

    2015-05-01

    Classical Lemierre syndrome is a rare and severe disease with thrombosis of the internal jugular vein and metastatic infections. We report on a case of Lemierre-like syndrome secondary to mastoiditis, with a favorable outcome, in a healthy infant presenting with torticollis. Early diagnosis and treatment with antibiotics are necessary to decrease mortality. PMID:25840465

  14. Usher's Syndrome: A 1986 Update.

    ERIC Educational Resources Information Center

    Baechle, Cathy L.; Rittenhouse, Robert K.

    The authors describe personal experiences with Usher's Syndrome, a condition involving visual impairment (due to Retinitis Pigmentosa) and deafness. Prevalence and onset of Usher's Syndrome are described along with characteristics of two different types. Problems connected with diagnosis are reviewed, including genetic aspects and the progressive…

  15. The Sjögren-Larsson syndrome

    Microsoft Academic Search

    Ursel Theile; Mechthild Jensen

    1973-01-01

    Oligophrenia, ichthyosis, and spastic di-or tetraplegia are the main symptoms of Sjögren-Larsson syndrome. This syndrome, first described in 1957 by two Swedish psychiatrists, has so far been observed in some 100 cases. Three further cases, observed in one family, are reported.

  16. HANDBOOK OF MENTAL RETARDATION SYNDROMES.

    ERIC Educational Resources Information Center

    CARTER, CHARLES H.

    THE CLINICAL SYNDROMES WHICH CONTRIBUTE TO THE PRODUCTION OF MENTAL RETARDATION ARE DESCRIBED BY SIGNS, SYMPTOMS, AND ETIOLOGY. SYNDROMES TREATED ARE (1) PRENATAL AND POSTNATAL INFECTIONS, (2) PRENATAL INTOXICATION AND ALLERGIC REACTIONS, (3) PRENATAL TRAUMA, PHYSICAL AGENTS, OR INTOXICATION, (4) BIRTH INJURIES, (5) POSTNATAL POISONS AND ALLERGIC…

  17. Congenital contractural arachnodactyly (Beals syndrome)

    Microsoft Academic Search

    Ergül Tunçbilek; Yasemin Alanay

    2006-01-01

    Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled

  18. Computer Vision Syndrome: A Review

    Microsoft Academic Search

    Clayton Blehm; Seema Vishnu; Ashbala Khattak; Shrabanee Mitra; Richard W. Yee

    2005-01-01

    As computers become part of our everyday life, more and more people are experiencing a variety of ocular symptoms related to computer use. These include eyestrain, tired eyes, irritation, redness, blurred vision, and double vision, collectively referred to as computer vision syndrome. This article describes both the characteristics and treatment modalities that are available at this time. Computer vision syndrome

  19. Rothmund-Thomson syndrome

    PubMed Central

    2010-01-01

    Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis). Gastrointestinal, respiratory and haematological signs have been reported in a few patients. RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. Diagnosis is based on clinical findings (primarily on the age of onset, spreading and appearance of the poikiloderma) and molecular analysis for RECQL4 mutations. Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. A fully informative test requires transcript analysis not to overlook intronic deletions causing missplicing. The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes. The differential diagnosis should include other causes of childhood poikiloderma (including dyskeratosis congenita, Kindler syndrome and Poikiloderma with Neutropaenia), other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, Werner syndrome and Ataxia-telangiectasia) and the allelic disorders, RAPADILINO syndrome and Baller-Gerold syndrome, which also share some clinical features. A few mutations recur in all three RECQL4 diseases. Genetic counselling should be provided for RTS patients and their families, together with a recommendation for cancer surveillance for all patients with RTSII. Patients should be managed by a multidisciplinary team and offered long term follow-up. Treatment includes the use of pulsed dye laser photocoagulation to improve the telangiectatic component of the rash, surgical removal of the cataracts and standard treatment for individuals who develop cancer. Although some clinical signs suggest precocious aging, life expectancy is not impaired in RTS patients if they do not develop cancer. Outcomes in patients with osteosarcoma are similar in RTS and non-RTS patients, with a five-year survival rate of 60-70%. The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma. PMID:20113479

  20. Guillain-Barré syndrome.

    PubMed

    Walling, Anne D; Dickson, Gretchen

    2013-02-01

    Guillain-Barré syndrome consists of a group of neuropathic conditions characterized by progressive weakness and diminished or absent myotatic reflexes. The estimated annual incidence in the United States is 1.65 to 1.79 per 100,000 persons. Guillain-Barré syndrome is believed to result from an aberrant immune response that attacks nerve tissue. This response may be triggered by surgery, immunizations, or infections. The most common form of the disease, acute inflammatory demyelinating polyradiculoneuropathy, presents as progressive motor weakness, usually beginning in the legs and advancing proximally. Symptoms typically peak within four weeks, then plateau before resolving. More than one-half of patients experience severe pain, and about two-thirds have autonomic symptoms, such as cardiac arrhythmias, blood pressure instability, or urinary retention. Advancing symptoms may compromise respiration and vital functions. Diagnosis is based on clinical features, cerebrospinal fluid testing, and nerve conduction studies. Cerebrospinal fluid testing shows increased protein levels but a normal white blood cell count. Nerve conduction studies show a slowing, or possible blockage, of conduction. Patients should be hospitalized for multidisciplinary supportive care and disease-modifying therapy. Supportive therapy includes controlling pain with nonsteroidal anti-inflammatory drugs, carbamazepine, or gabapentin; monitoring for respiratory and autonomic complications; and preventing venous thrombosis, skin breakdown, and deconditioning. Plasma exchange therapy has been shown to improve short-term and long-term outcomes, and intravenous immune globulin has been shown to hasten recovery in adults and children. Other therapies, including corticosteroids, have not demonstrated benefit. About 3 percent of patients with Guillain-Barré syndrome die. Neurologic problems persist in up to 20 percent of patients with the disease, and one-half of these patients are severely disabled. PMID:23418763

  1. [Hypovitaminosis D and metabolic syndrome].

    PubMed

    Miñambres, Inka; de Leiva, Alberto; Pérez, Antonio

    2014-12-23

    Metabolic syndrome and hypovitaminosis D are 2 diseases with high prevalence that share several risk factors, while epidemiological evidence shows they are associated. Although the mechanisms involved in this association are not well established, hypovitaminosis D is associated with insulin resistance, decreased insulin secretion and activation of the renin-angiotensin system, mechanisms involved in the pathophysiology of metabolic syndrome. However, the apparent ineffectiveness of vitamin D supplementation on metabolic syndrome components, as well as the limited information about the effect of improving metabolic syndrome components on vitamin D concentrations, does not clarify the direction and the mechanisms involved in the causal relationship between these 2 pathologies. Overall, because of the high prevalence and the epidemiological association between both diseases, hypovitaminosis D could be considered a component of the metabolic syndrome. PMID:24529881

  2. Surgical management of Gerhardt syndrome.

    PubMed

    Chiril?, M; Mure?an, R; Cosgarea, M; Tomescu, E

    2010-01-01

    Adduction bilateral vocal fold immobility syndrome may be due by both recurrent laryngeal nerves paralysis--Gerhardt syndrome--and all intrinsic laryngeal muscles paralysis--Riegel syndrome. Etiology of Gerhardt syndrome is thyroid surgery, intubation's maneuver, trauma, neurological disorders, extrala-ryngeal malignancies. The manifestations of Gerhardt syndrome are inspiratory dyspnea and slightly influenced voicing by paramedian vocal folds paralysis with an important narrowing of the airway at the glottic level. The surgical procedures for enlargement of the glottic space can be classified in many ways and their major characteristics are: changes at the glottic level; surgical approach: open neck or endoscopic, with or without opening of the mucosal lining; the need for tracheostomy; the equipment used. The aim of this review is to expound the variety of interventions through the last century marked by the development of the diagnostic methods, the anesthesia and the surgical armament with sophisticated instruments and technologies. PMID:20726297

  3. [Obstructive sleep apnoea syndrome.

    PubMed

    Jennum, Poul; Tønnesen, Philip

    2014-05-26

    Obstructive sleep apnoea (OSA) and other sleep disordered breathing are common disorders causing significant morbidity, mortality and societal burden. A significant proportion of the patients are undiagnosed and consequently untreated. Due to the wide disease distribution we recommend increased disease awareness, especially among high-risk groups: patients with obesity, metabolic syndrome and cardio- and cerebrovascular diseases. Continuous positive airway pressure (CPAP) is the first-line of treatment together with weight reduction, whereas oral devices may be used for less severe OSA or in cases where CPAP cannot be used. PMID:25096841

  4. Caudal duplication syndrome.

    PubMed

    Ramzan, Muhammad; Ahmed, Shoaib; Ali, Salman

    2014-01-01

    Complete duplication of genitourinary system, colon and vertebral column is a very rare and complex congenital condition termed as "caudal duplication syndrome" with variable presentations. This term is often quoted as a type of incomplete separation of mono-ovular twins or conjoined twinning. It is associated with other congenital malformations of the genitourinary, gastrointestinal and other organ systems. The hereby reported case, a 3-month-old male infant had presented with the classical form of the disease i.e., duplication of the gastrointestinal, genitourinary system and vertebral column with anterior abdominal wall hernia and a large lipomeningocele. PMID:24411548

  5. Alcohol Withdrawal Syndromes

    Microsoft Academic Search

    Paul Ellis Marik

    \\u000a Approximately 11–15 million people report heavy alcohol use or alcohol abuse and dependence in the United States; not surprisingly,\\u000a alcohol-related medical problems are commonly encountered in critically ill and injured patients. Alcohol withdrawal syndrome\\u000a (AWS) consists of symptoms and signs arising in alcohol-dependent individuals, typically within 24–48 h of consumption of\\u000a their last drink. Delirium tremens (DTs), a severe and potentially

  6. Bone cement implantation syndrome.

    PubMed

    Razuin, R; Effat, O; Shahidan, M N; Shama, D V; Miswan, M F M

    2013-06-01

    Bone cement implantation syndrome (BCIS) is characterized by hypoxia, hypotension, cardiac arrhythmias, increased pulmonary vascular resistance and cardiac arrest. It is a known cause of morbidity and mortality in patients undergoing cemented orthopaedic surgeries. The rarity of the condition as well as absence of a proper definition has contributed to under-reporting of cases. We report a 59-year-old woman who sustained fracture of the neck of her left femur and underwent an elective hybrid total hip replacement surgery. She collapsed during surgery and was revived only to succumb to death twelve hours later. Post mortem findings showed multiorgan disseminated microembolization of bone marrow and amorphous cement material. PMID:23817399

  7. [Greater trochanteric pain syndrome].

    PubMed

    Nissen, M J; Genevay, S

    2015-03-11

    Trochanteric bursitis, also known as "greater trochanter pain syndrome", is a frequent and often under-diagnosed cause of pain in the lateral hip region. The diagnosis is essentially based on the clinical examination; however various forms of imaging may be useful to confirm the diagnosis and particularly to ex- clude other aetiologies. The different therapeutic options include non-steroidal anti-inflammatories, physiotherapy, local injections of cortisone and local anaesthetic, and extra-corporeal shock wave therapy. Surgical intervention is only indicated in rare cases. PMID:25946869

  8. Polycystic ovary syndrome.

    PubMed

    Nandi, Anindita; Chen, Zijian; Patel, Ronak; Poretsky, Leonid

    2014-03-01

    Polycystic ovary syndrome (PCOS), a heterogeneous and chronic condition, today affects about 5% of women of reproductive age. PCOS is strongly associated with states of insulin resistance and hyperinsulinemia. Risk factors include genetics, metabolic profiles, and the in utero environment. Long-term consequences of PCOS include metabolic complications such as diabetes, obesity, and cardiovascular disease. Dysregulation of insulin action is closely linked to the pathogenesis of PCOS. However, whether insulin resistance is the causative factor in the development of PCOS remains to be ascertained. Moreover, the mechanism by which insulin resistance may lead to reproductive dysfunction requires further elucidation. PMID:24582095

  9. Genetic Stroke Syndromes

    PubMed Central

    Barrett, Kevin M.; Meschia, James F.

    2014-01-01

    Purpose of Review: This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke. Recent Findings: Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes. Summary: Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis. PMID:24699489

  10. [Norrie-Wardburg syndrome].

    PubMed

    Skevas, A; Kastanioudakis, I; Daniilidis, B; Exarchakos, G

    1992-10-01

    We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis. PMID:1418232

  11. [Bacterial overgrowth syndrome].

    PubMed

    Stein, J M; Schneider, A R

    2007-07-01

    Small bowel bacterial overgrowth is a syndrome caused by an abnormal number of bacteria in the upper part of the small bowel and associated with a complex array of clinical symptoms, i. e., chronic diarrhoea, steatorrhoea, macrocytic anaemia, weight loss, and less commonly, protein-losing enteropathy. The most common underlying factors are small intestinal stagnation or dysmotility, intestinal obstruction, blind or afferent loops, and decreased gastric secretion. The treatment usually consists in the eradication of bacterial overgrowth with repeated courses of antimicrobials, correction of associated nutritional deficiencies and, when possible, correction of the underlying predisposing conditions. PMID:17620228

  12. Down syndrome in Kuwait.

    PubMed

    al-Awadi, S A; Farag, T I; Teebi, A S; Naguib, K K; Sundareshan, T S; Murthy, D S

    1990-01-01

    During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%. PMID:2149982

  13. Ehlers-Danlos syndrome.

    PubMed

    Taj, Farhana Tahseen; Sajjan, Vijaya V; Singh, Dolly

    2014-11-01

    Ehlers-Danlos syndrome (EDS) is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4(th) century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature. PMID:25506578

  14. [Reversible cerebral vasoconstriction syndrome].

    PubMed

    Laakso, Elina; Pekkola, Johanna; Soinne, Lauri; Putaala, Jukka

    2014-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is increasingly recognized. The condition is characterized by multifocal vasoconstriction lesions in cerebral arteries. Headache is the central symptom, with an acute onset and paroxysmal occurrence. Some of the patients develop intracranial hemorrhage, ischemic disturbance of the cerebral circulation, hypertensive encephalopathy (PRES) or epileptic seizures as complications. The disease is most common in middle-aged women. Most patients have an underlying predisposing factor, most commonly vasoactive medications, drugs or puerperium. There is no evidence-based practice. PMID:25558591

  15. Tics and Tourette syndrome.

    PubMed

    Shaw, Zoey A; Coffey, Barbara J

    2014-09-01

    Tourette syndrome is a childhood onset neurodevelopmental disorder characterized by multiple motor and vocal tics. Although many youth experience attenuation or even remission of tics in adolescence and young adulthood, some individuals experience persistent tics, which can be debilitating or disabling. Most patients also have 1 or more psychiatric comorbid disorders, such as attention-deficit/hyperactivity disorder or obsessive-compulsive disorder. Treatment is multimodal, including both pharmacotherapy and cognitive-behavioral treatment, and requires disentanglement of tics and the comorbid symptoms. PMID:25150562

  16. Interstitial inflammation in Alport syndrome.

    PubMed

    Jedlicka, Jan; Soleiman, Afschin; Draganovici, Dan; Mandelbaum, Jana; Ziegler, Urs; Regele, Heinz; Wüthrich, Rudolf P; Gross, Oliver; Anders, Hans-Joachim; Segerer, Stephan

    2010-04-01

    The Alport syndrome is a hereditary glomerular disease linked to structural abnormalities of collagen IV. In a mouse model of Alport syndrome, the interstitial lymphocyte influx was important for disease progression. CXCR3 is a chemokine receptor involved in lymphocyte recruitment to the kidney. We hypothesized that CXCR3-positive T cells might be involved in human Alport syndrome. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded biopsies from 17 patients with Alport syndrome, 10 with immunoglobulin A (IgA) nephropathy, and 11 healthy donor kidneys. We investigated the expression of the alpha5 chain of collagen IV to confirm the morphologic diagnosis, the chemokine receptor CXCR3 and CD3-positive T cells. Alport syndrome biopsies demonstrated a complete loss of the alpha5 chain of collagen IV from the glomerular basement membrane and the morphologic features consistent with Alport syndrome on electron microscopy. A prominent number of CXCR3-positive cells were found in the tubulointerstitium. Most of the CXCR3-positive cells were CD3-positive T cells, demonstrated by double-labeling in selected biopsies. The number of CXCR3-positive cells in kidneys with Alport syndrome correlated with serum creatinine (P < .05) and with morphologic features of a progressive disease (eg, interstitial fibrosis, glomerulosclerosis, and tubular atrophy). The severity of interstitial CXCR3-positive cell influx was similar in Alport syndrome as compared to immunoglobulin A nephropathy. The noninflammatory glomerular lesion of Alport syndrome is associated with prominent interstitial accumulation of CD3- and CXCR3-positive lymphocytes. The degree of infiltration correlated with renal function. We speculate that targeting T lymphocytes, for example, by CXCR3 blocking agents, might be a novel approach to inhibit disease progression in patients with Alport syndrome. PMID:20004949

  17. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    ERIC Educational Resources Information Center

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  18. Brown's syndrome: diagnosis and management.

    PubMed Central

    Wright, K W

    1999-01-01

    PURPOSE: To better understand the various etiologies of Brown's syndrome, define specific clinical characteristics of Brown's syndrome, describe the natural history of Brown's syndrome, and evaluate the longterm outcome of a novel surgical procedure: the silicone tendon expander. Also, to utilize a computer model to simulate the pattern of strabismus seen clinically with Brown's syndrome and manipulate the model to show potential surgical outcomes of the silicone tendon expander. METHODS: Charts were reviewed on patients with the diagnosis of Brown's syndrome seen at a children's hospital ophthalmology clinic from 1982 to 1997, or seen in the author's private practice. Objective fundus torsion was assessed in up gaze, down gaze, and primary position in 7 Brown's syndrome patients and in 4 patients with primary superior oblique overaction. A fax survey was taken of members of the American Association of Ophthalmology and Strabismus (AAPOS) listed in the 1997-1998 directory regarding their results using the silicone tendon expander procedure for the treatment of Brown's syndrome. A computer model of Brown's syndrome was created using the Orbit 1.8 program by simulating a shortened superior oblique tendon or by changing stretch sensitivity to create an inelastic muscle. RESULTS: A total of 96 patients were studied: 85 with Brown's syndrome (38 with congenital and 47 with acquired disease), 6 with masquerade syndromes, 1 with Brown's syndrome operated on elsewhere, and 4 with primary superior oblique overaction in the torsion study. Three original clinical observations were made: 1. Significant limitation of elevation in abduction occurs in 70% of Brown's syndrome cases surgically verified as caused by a tight superior oblique tendon. Contralateral pseudo-inferior oblique overaction is associated with limited elevation in abduction. 2. Traumatic Brown's syndrome cases have larger hypotropias than nontraumatic cases (P < .001). There was no significant hypotropia in primary position in 56 (76%) of 74 congenital and nontraumatic acquired cases despite severe limitation of elevation. 3. Of 7 patients with Brown's syndrome, 6 had no significant fundus torsion in primary position, but had significant (+2 to +3) intorsion in up gaze. Spontaneous resolution occurred in approximately 16% of acquired nontraumatic Brown's syndrome patients. The silicone tendon expander was used on 15 patients, 13 (87%) were corrected with 1 surgery and 14 (93%) with 2 surgeries. The only failure was a Brown's syndrome not caused by superior oblique pathology. Five of the silicone tendon expander patients had at least 5 years follow-up (range, 5 to 11 years). Four (80%) of the 5 patients had an excellent outcome with 1 surgery, final results graded between 9 and 10 (on a scale of 1-10, 10 is best). The fifth patient had a consecutive superior oblique paresis and a good outcome after a recession of the ipsilateral inferior oblique muscle. The AAPOS survey had a mean outcome score of 7.3, with 65% between 8 and 10. There were 9 (6%) complications reported: 4 related to scarring and 5 extrusions of the implant. Three of the 5 extrusions were reported from the same surgeon. The computer model of an inelastic superior oblique muscle-tendon complex best simulated the motility pattern of Brown's syndrome with severe limitation of elevation in adduction, mild limitation of elevation in abduction, minimal hypotropia in primary position, no superior oblique overaction, and intorsion in up gaze. CONCLUSIONS: The presence of mild to moderate limitation of elevation in abduction is common, and its presence does not eliminate the diagnosis of Brown's syndrome. The majority of Brown's syndrome patients have a pattern of strabismus consistent with an inelastic superior oblique muscle-tendon complex that does not extend, but can contract normally; not the presence of a short tendon. The presence of inelastic or tethered superior oblique muscle-tendon can be diagnosed without forced duction testing by observing the pattern of strabismus including torsion. Because of

  19. The urogenital and rectal pain syndromes

    Microsoft Academic Search

    Ursula Wesselmann; Arthur L Burnett; Leslie J Heinberg

    1997-01-01

    Pain syndromes of the urogenital and rectal area are well described but poorly understood and underrecognized focal pain syndromes. They include vulvodynia, orchialgia, urethral syndrome, penile pain, prostatodynia, coccygodynia, perineal pain, proctodynia and proctalgia fugax. The etiology of these focal pain syndromes is not known. A specific secondary cause can be identified in a minority of patients, but most often

  20. Advancing drug therapy of the metabolic syndrome

    E-print Network

    Cai, Long

    Advancing drug therapy of the metabolic syndrome The metabolic syndrome -- a group of factors standards will also play an important part in advancing the therapy of the metabolic syndrome beyond,1419 (2003). 3. Grundy, S. M. Drug therapy of the metabolic syndrome: minimizing the emerging crisis

  1. Fragile X Syndrome, Autism and Autistic Features

    Microsoft Academic Search

    Jeremy Turk; Philip Graham

    1997-01-01

    The relationship between fragile X syndrome and autism is reviewed. Results from a semi-structured questionnaire survey of development and behaviour in boys with fragile X syndrome, Down's syndrome and learning disability of unknown aetiology are presented. A behavioural profile characteristic of many boys with fragile X syndrome was identified which distinguished them from both other groups. Fragile X boys did

  2. Cerebro-Oculo-Facio-Skeletal Syndrome (COFS)

    MedlinePLUS

    NINDS Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) Information Page Synonym(s): Pena Shokeir II Syndrome, Cockayne Syndrome Type II Table ... is being done? Clinical Trials Organizations What is Cerebro-Oculo-Facio-Skeletal Syndrome (COFS)? Cerebro-oculo-facio- ...

  3. Paraneoplastic syndromes in rheumatology.

    PubMed

    Manger, Bernhard; Schett, Georg

    2014-11-01

    For patients that present with musculoskeletal symptoms, diagnostic procedures carried out by physicians and rheumatologists are primarily aimed at confirming or excluding the occurrence of primary rheumatic diseases. Another important trigger for musculoskeletal disease, however, is the presence of a tumour. Careful clinical investigation and knowledge of the gestalt of musculoskeletal syndromes related to respective tumour entities is of utmost importance for the diagnosis of paraneoplastic rheumatic diseases such as hypertrophic osteoarthropathy, paraneoplastic polyarthritis, RS3PE syndrome, palmar fasciitis and polyarthritis, cancer-associated myositis and tumour-induced osteomalacia. This places great responsibility on rheumatologists in diagnosing malignancies and referring the patient for effective treatment. The selective influence of tumours on musculoskeletal tissue is surprising and indicates that tumours alter tissues such as the periosteum, synovial membrane, subcutaneous connective tissue, fascia, muscles and bones by specific molecular processes. Some of the underlying mechanisms have been unravelled, providing valuable information on the physiologic and pathophysiologic roles of mediators such as vascular endothelial growth factor and fibroblast growth factor 23. PMID:25136782

  4. Li-Fraumeni Syndrome

    PubMed Central

    Malkin, David

    2011-01-01

    Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood cancers and the distribution of p53 mutations has led to a greater understanding of cancer genotype-phenotype correlations. However, the complex LFS phenotype is not readily explained by the simple identification of germline p53 mutations in affected individuals. Recent work has identified genetic events that modify the LFS phenotype. These include intragenic polymorphisms, mutations/polymorphisms of genes in the p53 regulatory pathway, as well as more global events such as aberrant copy number variation and telomere attrition. These genetic events may, in part, explain the breadth of tumor histiotypes within and across LFS families, the apparent accelerated age of onset within families, and the range of clinical outcomes among affected family members. This review will examine the clinical and genetic definitions of LFS and offer insight into how lessons learned from the study of this rare disorder may inform similar questions in other familial cancer syndromes. PMID:21779515

  5. Burning mouth syndrome

    PubMed Central

    2008-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18-33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to February 2007 (BMJ Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 12 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:19450321

  6. Burning mouth syndrome

    PubMed Central

    2010-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18% to 33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to November 2009 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 15 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:21418666

  7. Multiple organ dysfunction syndrome.

    PubMed Central

    Murray, M. J.; Coursin, D. B.

    1993-01-01

    The multiple organ dysfunction syndrome (MODS), though newly described, has manifested itself in intensive care unit (ICU) patients for several decades. As the name implies, it is a syndrome in which more than one organ system fails. Failure of these multiple organ systems may or may not be related to the initial injury or disease process for which the patient was admitted to the ICU. MODS is the leading cause of morbidity and mortality in current ICU practice. While the pathophysiology of MODS is not completely known, much evidence indicates that, during the initial injury which precipitates ICU admission, a chain of events is initiated which results in activation of several endogenous metabolic pathways. These pathways release compounds which, in and of themselves, are usually cytoprotective. However, an over exuberant activation of these endogenous systems results in an inflammatory response which can lead to development of failure in distant organs. As these organs fail, they activate and propagate the systemic inflammatory response. No therapy has proven entirely efficacious at modulating this inflammatory response and the incidence and severity of MODS. In current ICU practice, treatment is focused on prevention and treating individual organ dysfunction as it develops. With increased understanding of the pathophysiology of MODS therapy will come newer modalities which inhibit or interfere with the propagation of the endogenous systemic inflammatory response. These newer therapies hold great promise and already some are undergoing clinical investigation. PMID:7825351

  8. Complications of nephrotic syndrome

    PubMed Central

    Park, Se Jin

    2011-01-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox), thromboembolism (e.g., venous thromboembolism and pulmonary embolism), hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension), cardiovascular problems (e.g., hyperlipidemia), acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception). The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS. PMID:22087198

  9. Guillain Barré syndrome

    PubMed Central

    Winer, J B

    2001-01-01

    Guillain Barré syndrome is one of the best examples of a post infectious immune disease and offers insights into the mechanism of tissue damage in other more common autoimmune diseases. Controlled epidemiological studies have linked it to infection with Campylobacter jejuni in addition to other viruses including cytomegalovirus and Epstein Barr virus. The syndrome includes several pathological subtypes, of which the most common is a multifocal demyelinating disorder of the peripheral nerves in close association with macrophages. Evidence from histological examination of peripheral nerve biopsy and postmortem samples suggests that both cell mediated and humoral mechanisms are involved in the pathogenesis. Immunological studies suggest that at least one third of patients have antibodies against nerve gangliosides, which in some cases also react with constituents of the liposaccharide of C jejuni. In the Miller Fisher variant of the disease, these antiganglioside antibodies have been shown to produce neuromuscular block, and may in part explain the clinical signs of that disorder. Treatment with both intravenous immunoglobulin and plasma exchange reduces the time taken for recovery to occur, although mortality remains around 8%, with about 20% of patients remaining disabled. PMID:11724912

  10. Chronic fatigue syndrome

    PubMed Central

    2011-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2010 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:21615974

  11. Chronic fatigue syndrome

    PubMed Central

    2008-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to September 2007 (BMJ Clinical evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 45 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:19445810

  12. Posterior reversible encephalopathy syndrome.

    PubMed

    Lamy, C; Oppenheim, C; Mas, J L

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a recently proposed cliniconeuroradiologic entity with several well-known causes, such as hypertensive encephalopathy, eclampsia, and the use of cytotoxic and immunosuppressive drugs, as well as some causes more recently described. PRES is characterized by neuroimaging findings of reversible vasogenic subcortical edema without infarction. The pathogenesis is incompletely understood. Two opposing hypotheses are commonly cited, but the issue is controversial: (1) the current more popular theory suggests that severe hypertension exceeds the limits of autoregulation, leading to breakthrough brain edema; (2) the earlier original theory suggests that hypertension leads to cerebral autoregulatory vasoconstriction, ischemia, and subsequent brain edema. The clinical syndrome of PRES typically involves headache, encephalopathy, visual symptoms, and seizures. The clinical presentation is often nonspecific, and therefore the diagnosis of PRES has come to increasingly rely on magnetic resonance imaging (MRI) abnormalities consistent with PRES with documented recovery clinically and on repeated neuroimaging. The diagnosis has important therapeutic and prognostic implications because the reversibility of the clinical and radiologic abnormalities is contingent on the prompt control of blood pressure and/or discontinuing the offending drug. PMID:24365441

  13. Olmsted syndrome--a rare syndrome with oral manifestations.

    PubMed

    Batra, Puneet; Shah, Naseem

    2004-05-01

    Olmsted syndrome is a rare, congenital condition characterized by severe palmo-planter keratosis, periorificial keratosis, and hypotrichosis. Though orofacial keratosis is one of the consistent findings of Olmsted syndrome, it has never been reported in the dental literature. We report a case of Olmsted syndrome in an eight-year-old boy who presented with massive and crippling palmoplanter keratosis and bilateral oral lesions in the form of keratotic plaques at the corners of the mouth, as well as on the dorsum of the tongue. PMID:15153872

  14. Neuroleptic malignant syndrome in the acquired immunodeficiency syndrome.

    PubMed Central

    Hernández, J. L.; Palacios-Araus, L.; Echevarría, S.; Herrán, A.; Campo, J. F.; Riancho, J. A.

    1997-01-01

    Patients infected by the human immunodeficiency virus are predisposed to many infectious and noninfectious complications and often receive a variety of drugs. Furthermore, they seem to have a particular susceptibility to idiosyncratic adverse drug reactions. It is therefore surprising that only a few cases of the neuroleptic malignant syndrome have been described in patients with the acquired immunodeficiency syndrome. A high index of suspicion is required to diagnose the neuroleptic malignant syndrome in these patients, as its usual manifestations, including fever and altered consciousness, are frequently attributed to an underlying infection. PMID:9497946

  15. Sweet's syndrome with idiopathic thrombocythemia

    PubMed Central

    Kaszewski, Sebastian; Protas-Drozd, Franciszka; Placek, Waldemar; Jakubowski, Sebastian

    2014-01-01

    Diagnosis of paraneoplastic skin syndromes associating neoplastic processes is assumed as the crucial aspect of dermatological practice. Knowledge of clinical findings of dermatoses suggesting coincidence of malignant proliferative processes facilitates diagnostic and therapeutic procedures. We would like to present a case of Sweet's syndrome, qualified for comparative paraneoplastic skin syndromes. Sweet's syndrome, acute, febrile neutrophilic dermatosis, was first described by Robert Douglas Sweet in 1964 as a disorder characterized by fever, skin lesions of erythematous-infiltrative character, leukocytosis with neutrophilia and dense infiltrations of dermis by mature neutrophils. Sweet's syndrome aetiology is not fully understood, although cytokine abnormalities suggest that Th1 lymphocytes play an important role in pathogenesis of the dermatosis. Factors inducing Sweet's syndrome include: haematopoietic hyperplasia; neoplasms: genitourinary, breast, gastrointestinal; infections of the respiratory and alimentary system; inflammatory bowel diseases; drugs; pregnancy and vaccinations. Systemic corticosteroids are the “gold standard” of Sweet's syndrome treatment; potassium iodide or colchicine may also be used. Indomethacin, clofazimine, cyclosporine A and sulfones are the second-line drugs. PMID:24683399

  16. Psychoanatomical substrates of Bálint's syndrome

    PubMed Central

    Rizzo, M; Vecera, S

    2002-01-01

    Objectives: From a series of glimpses, we perceive a seamless and richly detailed visual world. Cerebral damage, however, can destroy this illusion. In the case of Bálint's syndrome, the visual world is perceived erratically, as a series of single objects. The goal of this review is to explore a range of psychological and anatomical explanations for this striking visual disorder and to propose new directions for interpreting the findings in Bálint's syndrome and related cerebral disorders of visual processing. Methods: Bálint's syndrome is reviewed in the light of current concepts and methodologies of vision research. Results: The syndrome affects visual perception (causing simultanagnosia/visual disorientation) and visual control of eye and hand movement (causing ocular apraxia and optic ataxia). Although it has been generally construed as a biparietal syndrome causing an inability to see more than one object at a time, other lesions and mechanisms are also possible. Key syndrome components are dissociable and comprise a range of disturbances that overlap the hemineglect syndrome. Inouye's observations in similar cases, beginning in 1900, antedated Bálint's initial report. Because Bálint's syndrome is not common and is difficult to assess with standard clinical tools, the literature is dominated by case reports and confounded by case selection bias, non-uniform application of operational definitions, inadequate study of basic vision, poor lesion localisation, and failure to distinguish between deficits in the acute and chronic phases of recovery. Conclusions: Studies of Bálint's syndrome have provided unique evidence on neural substrates for attention, perception, and visuomotor control. Future studies should address possible underlying psychoanatomical mechanisms at "bottom up" and "top down" levels, and should specifically consider visual working memory and attention (including object based attention) as well as systems for identification of object structure and depth from binocular stereopsis, kinetic depth, motion parallax, eye movement signals, and other cues. PMID:11796765

  17. The Landau-Kleffner Syndrome.

    PubMed

    Pearl, Phillip L.; Carrazana, Enrique J.; Holmes, Gregory L.

    2001-11-01

    Landau-Kleffner syndrome (LKS), or acquired epileptiform aphasia, is an epilepsy syndrome involving progressive neuropsychological impairment related to the appearance of paroxysmal electroencephalograph (EEG) activity. LKS appears to share a common pathophysiologic mechanism with continuous spike-wave of sleep (CSWS), acquired epileptic opercular syndrome (AEOS), and even benign childhood epilepsy with centrotemporal spikes (BECTS), with differentiating factors including age of onset, area of primary epileptogenicity, and severity of clinical presentation. This article covers the clinical, diagnostic, therapeutic, and prognostic features of LKS. In a child with autistic spectrum disorder, the presence of a fluctuating clinical course or regression should raise suspicion for the presence of associated epilepsy. PMID:15309183

  18. ADCK4 “reenergizes” nephrotic syndrome

    PubMed Central

    Malaga-Dieguez, Laura; Susztak, Katalin

    2013-01-01

    Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower coenzyme Q10 levels, and coenzyme Q10 supplementation ameliorated renal disease in a patient with this particular mutation, suggesting a potential therapy for patients with steroid-resistant nephrotic syndrome with ADCK4 mutations. PMID:24270414

  19. Two brothers with Martsolf's syndrome.

    PubMed Central

    Sánchez, J M; Barreiro, C; Freilij, H

    1985-01-01

    Two brothers affected by a syndrome consisting of short stature, hypogonadism, and severe mental retardation are reported. The syndrome shares the features of that described by Martsolf et al in two brothers born to a consanguineous Polish Jewish couple. Although our patients' parents are Sephardic Jews, they deny consanguinity. These observations and personal knowledge of another affected Jewish boy raise the question of whether Martsolf's syndrome is a new entity that should be included in the group of those that affect mainly Jewish people, and whether its pattern of inheritance is X linked recessive or autosomal recessive limited to males. Images PMID:4045961

  20. Marfan syndrome: a diagnostic dilemma.

    PubMed

    Viljoen, D; Beighton, P

    1990-06-01

    During a 17-year period (1971-1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker. PMID:2383927

  1. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    PubMed

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

  2. Un syndrome confusionnel révélant un syndrome de Fahr avec hyperparathyroïdie

    PubMed Central

    Rharrabti, Souad; Darouich, Ilhame; Benbrahim, Mohamed; Belahsen, Fawzi; Rammouz, Ismail; Alouane, Rachid

    2013-01-01

    Le syndrome de Fahr est une entité anatomo-clinique rare, caractérisée par des calcifications intracérébrales bilatérales et symétriques, localisées dans les noyaux gris centraux, le plus souvent associées à des troubles du métabolisme phosphocalcique. L'hypoparathyroïdie, primitive ou postopératoire, est l'anomalie la plus classique. L'hyperparathyroïdie est exceptionnellement rapportée comme cause du syndrome de Fahr. Nous rapportons le cas d'une fille de 17 ans suivie depuis l’âge de 12 ans pour une épilepsie avec la notion d'un retard mental depuis l'enfance, qui a présenté un syndrome confusionnel révélant un syndrome de Fahr avec la particularité de l'existence d'une hyperparathyroïdie. PMID:23734268

  3. Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes

    MedlinePLUS

    ... fix or replace the underlying genetic defects by gene therapy. MDA’s Search for Treatments and ... and your family deal with myasthenia gravis or myasthenic syndromes. The staff at your local MDA office is ...

  4. Renal-hepatic-pancreatic dysplasia syndrome (ivemark's syndrome)

    PubMed Central

    Vankalakunti, Mahesha; Gupta, Kirti; Kakkar, Nandita; Das, Ashim

    2007-01-01

    Background Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. Case presentation We describe two unrelated cases of Renal-Hepatic-Pancreatic dysplasia syndrome in stillborn babies. The characteristic microscopic features were present in both the cases. The second case illustrates the unique association lymphangiectasia with Renal-Hepatic-Pancreatic dysplasia syndrome. Both cases are unrelated and there is no history of any consanguineous marriage. Conclusion These two cases are unrelated and are rare. In the developmental research, the perinatal autopsy needs to be utilized as a major tool and an Ad hoc committee formation is required to formulate the approach towards syndromic diseases. PMID:17605805

  5. Sweet's Syndrome Presenting in Concordance with Acute Coronary Syndrome

    PubMed Central

    Holland, Vanessa; Leong, Tracy; Horowitz, David; Hirokane, Jane

    2012-01-01

    Acute febrile neutrophilic dermatosis (Sweet's syndrome) is typically characterized by an acute onset of erythematous papules, plaques, and nodules in a febrile patient. This dermatosis is classically accompanied by leukocytosis and neutrophilia, and has had reported associations with various underlying etiologies including drug reactions, malignancies, infections, autoimmune disorders, and inflammatory bowel diseases. However, most cases of acute febrile neutrophilic dermatosis are idiopathic. We present a unique case of Sweet's syndrome in a patient with concurrent acute myocardial infarction. PMID:23050034

  6. De Barsy syndrome--an autosomal recessive, progeroid syndrome.

    PubMed

    Kunze, J; Majewski, F; Montgomery, P; Hockey, A; Karkut, I; Riebel, T

    1985-11-01

    We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal clouding or cataracts. The syndrome probably has autosomal recessive inheritance. PMID:4076251

  7. Sheehan's syndrome: Newer advances

    PubMed Central

    Shivaprasad, C.

    2011-01-01

    Sheehan's syndrome (SS) is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive hemorrhage during or after delivery. Patients with SS have varying degrees of anterior pituitary hormone deficiency. Its frequency is decreasing worldwide and it is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care. However, it is still frequent in underdeveloped and developing countries. SS often evolves slowly and hence is diagnosed late. History of postpartum hemorrhage, failure to lactate and cessation of menses are important clues to the diagnosis. Early diagnosis and appropriate treatment are important to reduce morbidity and mortality of the patients. PMID:22029025

  8. The Blackout Syndrome

    NSDL National Science Digital Library

    Ken Eklund (Writerguy REV)

    1996-07-15

    "The Blackout Syndrome" science mystery has three Episodes and a Conclusion. You investigate the homes of people that have fallen ill, looking for a common thread that leads back to the origin of the mysterious disease; test the disease in a lab, in order to determine what sort of pathogen it is; and determine which of the anti-pathogenic agents you have on hand would be the best to counter the disease. The Conclusion gives you links for further research into the story themes. The storyline varies for each student, depending on the choices that student makes. For example: early in the story, if your students don't solve the mystery correctly, they are given a second chance as the story seamlessly brings them more information about the origins of the mysterious disease. You learn about disease outbreaks, pathogens, Gram stain, control groups and hemophobia. The mystery tests literacy, problem solving skills and deductive reasoning.

  9. Empty nose syndrome.

    PubMed

    Kuan, Edward C; Suh, Jeffrey D; Wang, Marilene B

    2015-01-01

    Empty nose syndrome (ENS) is a rare, late complication of turbinate surgery. The most common clinical symptoms are paradoxical nasal obstruction, nasal dryness and crusting, and a persistent feeling of dyspnea. Little is known about the pathogenesis of ENS, though it is speculated that anatomical changes leading to alterations in local environment, disruption of mucosal cooling, and disruption of neurosensory mechanisms are strongly implicated. The diagnosis is clinical, though often difficult to make due to the poor correlation between subjective and objective findings. Medical therapies include mucosal humidification, irrigations, and emollients. Surgical therapy should be reserved for refractory cases and may involve turbinate reconstruction, most commonly using implantable biomaterials. Ultimately, prevention of this feared complication through turbinate-sparing techniques is essential. PMID:25430954

  10. The Myelodysplastic Syndromes Foundation

    NSDL National Science Digital Library

    The Myelodysplastic Syndromes (MDS) Foundation was founded "by an international group of physicians and researchers to provide an ongoing exchange of information about MDS." For those unfamiliar with this condition, MDS "is a collection of disorders in which the bone marrow does not produce enough blood cells." The MDS Foundation website offers free resources for clinicians, information for patients, international research updates, and information about upcoming and past symposia. The site also provides an extensive list of MDS Centers of Excellence throughout the United States and around the world. Other MDS Foundation services include an International MDS Patient Registry; online forums for patients and professional members; downloadable newsletters; links to related articles and archived abstracts; and related links.

  11. [Vascular variability syndromes].

    PubMed

    Otsuka, Kuniaki; Okajima, Kiyotaka; Yamanaka, Takashi; Cornelissen, Germaine

    2014-08-01

    Analytical global and local methods applied to human blood pressure (BP) records of around-the-clock measurements. The chronobiological interpretation of ambulatory BP monitoring records in the light of time-specified reference values derived from healthy peers matched by sex and age identify vascular variability disorders (VVDs) for an assessment of cardio-, cerebro-, and renovascular disease risk. VVD includes circadian BP over-swinging (CHAT, short for circadian hyper-amplitude tension), deficient heart rate variability, MESOR (midline-estimating statistic of rhythm) hypertension, excessively elevated pulse pressure over 60 mmHg, BP ecphasia (an odd timing of the circadian rhythms in BP but not in that of heart rate) and frequency alteration. The term MESOR-hypertension indicates only one of several VVDs that can combine to for sets of 2, 3 and n-component vascular variability syndromes. PMID:25167758

  12. Guillain-Barré syndrome.

    PubMed

    Wakerley, Benjamin R; Yuki, Nobuhiro

    2015-08-01

    Over the past three decades much has been elucidated about the pathogenesis and clinical manifestations of Guillain-Barré syndrome, the most common cause of acute flaccid paralysis worldwide. Cross-reactivity between surface epitopes on the bacterium Campylobacter jejuni and peripheral nerve gangliosides has been shown to induce antibody-mediated axonal-type neuropathy in some patients. Understanding the molecular mechanisms that cause nerve damage in these patients has led to the development of novel therapies, which specifically target the complement cascade and prevent formation of the membrane attack complex. The most promising, eculizumab, is a humanized monoclonal antibody, which blocks formation of human C5a and C5b-9, and has been shown to prevent antiganglioside antibody-induced neuropathy in vitro and in a mouse model and is currently in Phase II clinical trials. PMID:26154996

  13. Imaging metabolic syndrome

    PubMed Central

    Han, Weiping; Chuang, Kai-Hsiang; Chang, Young-Tae; Olivo, Malini; Velan, S Sendhil; Bhakoo, Kishore; Townsend, David; Radda, George K

    2010-01-01

    Metabolic syndrome is a fast growing public health burden for almost all the developed countries and many developing nations. Despite intense efforts from both biomedical and clinical scientists, many fundamental questions regarding its aetiology and development remain unclear, partly due to the lack of suitable imaging technologies to visualize lipid composition and distribution, insulin secretion, ?-cell mass and functions in vivo. Such technologies would not only impact on our understanding of the complexity of metabolic disorders such as obesity and diabetes, but also aid in their diagnosis, drug development and assessment of treatment efficacy. In this article we discuss and propose several strategies for visualization of physiological and pathological changes that affect pancreas and adipose tissue as a result of the development of metabolic diseases. PMID:20533426

  14. Anterior resection syndrome.

    PubMed

    Bryant, Catherine L C; Lunniss, Peter J; Knowles, Charles H; Thaha, Mohamed A; Chan, Christopher L H

    2012-09-01

    Up to 80% of patients with rectal cancer undergo sphincter-preserving surgery. It is widely accepted that up to 90% of such patients will subsequently have a change in bowel habit, ranging from increased bowel frequency to faecal incontinence or evacuatory dysfunction. This wide spectrum of symptoms after resection and reconstruction of the rectum has been termed anterior resection syndrome. Currently, no precise definition or causal mechanisms have been established. This disordered bowel function has a substantial negative effect on quality of life. Previous reviews have mainly focused on different colonic reconstructive configurations and their comparative effects on daily function and quality of life. The present Review explores the potential mechanisms underlying disturbed functions, as well as current, novel, and future treatment options. PMID:22935240

  15. Pathobiology of myelodysplastic syndromes.

    PubMed

    Blazsek, I; Mathé, G

    1990-01-01

    The myelodysplastic/preleukemic syndromes represent unique clinical situations since patients with initially mild hemopoietic abnormalities can be singled out from those progressing into frank myeloid leukemia. Here we confront data focused on the identification of critical cellular, molecular biological, cytogenetic and physiological defects leading to leukemic progression. An increasing amount of data supports our earlier hypothesis according to which the impairment of an endogenous (intracellular) life-cycle suppressor gene-product, or functionally related regulatory genes, plays the decisive role in the course of disease progression. The identification of systemic as well as clonally transmissible defects have clinical importance since in some cases the therapeutic application of the appropriate physiological substances may result in long lasting hematological remission. PMID:2224058

  16. [Somatoform vertigo syndromes].

    PubMed

    Feuerecker, R; Dieterich, M; Eckhardt-Henn, A; Becker-Bense, S

    2015-03-01

    About 30?% of patients presenting to general practitioners complain of episodic or chronic vertigo or dizziness symptoms mostly with substantial impact on their daily living and activities. 30 to 50?% of the dizziness disorders are organically not sufficiently explained and are caused by mental or psychosomatic diseases. Somatoform dizziness syndromes can occur without a preceding vestibular disorder (e.?g., primary somatoform dizziness) or they can develop in consequence of an organic vestibular disorder (secondary somatoform dizziness). However, it often takes months or even years until the correct diagnosis is made and an appropriate psychosomatic therapy can be initiated. Therefore, it is essential for the course of the disease that at an early stage not only careful interdisciplinary organic but also psychosomatic diagnostics are applied. PMID:25794318

  17. Neuroleptic Malignant Syndrome

    PubMed Central

    Berman, Brian D.

    2011-01-01

    Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. It has been associated with virtually all neuroleptics, including newer atypical antipsychotics, as well as a variety of other medications that affect central dopaminergic neurotransmission. Although uncommon, NMS remains a critical consideration in the differential diagnosis of patients presenting with fever and mental status changes because it requires prompt recognition to prevent significant morbidity and death. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological interventions in more severe cases. Maintaining vigilant awareness of the clinical features of NMS to diagnose and treat the disorder early, however, remains the most important strategy by which physicians can keep mortality rates low and improve patient outcomes. PMID:23983836

  18. Charcot foot syndrome.

    PubMed

    Jeffcoate, W J

    2015-06-01

    Charcot foot syndrome is an uncommon complication of diabetes but is potentially devastating in its consequences. Outcome is made worse by widespread professional ignorance leading to delayed diagnosis, but it is also hampered by lack of understanding of its causes and lack of treatments with proven effectiveness, other than offloading. There remains a desperate need for studies into its causes as well as comparative audit and trials designed to determine the best treatment for this difficult condition. Such work can probably only be effectively carried out through the establishment of multicentre networks. Nevertheless, improved understanding in recent years of the likely role of inflammatory pathways has raised awareness of the multiple ways in which the effects of neuropathy may be manifest in the development of the Charcot foot. This awareness is also leading to the realization that similar processes may conceivably contribute to the refractoriness of other foot diseases in diabetes, including both chronic unhealing ulcers and osteomyelitis. PMID:25818542

  19. Cat eye syndrome.

    PubMed

    Sharma, Deepak; Murki, Srinivas; Pratap, Tejo; Vasikarla, Madhavi

    2014-01-01

    A full-term female baby, a product of non-consanguineous marriage, was born at 37?weeks of gestation with a birth weight of 2.08?kg. Antenatal scan at 31?weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome. PMID:24842361

  20. Antiphospholipid syndrome and cognition.

    PubMed

    Liberato, Bernardo; Levy, Roger A

    2007-04-01

    In addition to the well-defined neurologic events due to arterial and venous thrombotic vascular occlusions of antiphospholipid syndrome (APS), a broad spectrum of neuropsychiatric has been related to antiphospholipid (aPL). Experimental evidence of a pathogenic role of aPL in mice with impaired neurological function disclosed inflammatory reaction as a hallmark. The process that leads to neurological dysfunction seems to be both structurally destructive and functionally impairing. The most modern resources of neuroimmaging also suggest that, in addition to the micro-infarcts that occur in strategic areas, other metabolic impairments are related to progressive dementia and aPL presence. Although there is a lot of confusion among APS and lupus' cognitive involvement, there is a body of experimental and clinical evidence that aPL causes this kind of damage. PMID:17916992