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1

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 ...

2

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 ...

3

Wallenberg's Syndrome  

MedlinePLUS

NINDS Wallenberg's Syndrome Information Page Synonym(s): Lateral Medullary Syndrome Table of Contents (click to jump to sections) What is ... is being done? Clinical Trials Organizations What is Wallenberg's Syndrome? Wallenberg’s syndrome is a neurological condition caused ...

4

Down Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications En Español 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 ...

5

Brown Syndrome  

MedlinePLUS

... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

6

Metabolic Syndrome  

MedlinePLUS

... is a signal that someone could be on the road to serious health problems. Diagnosing metabolic syndrome helps ... like heart disease or type 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is ...

7

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

8

Angelman Syndrome  

MedlinePLUS

... being done? Clinical Trials Organizations What is Angelman Syndrome? Angelman syndrome is a genetic disorder that causes developmental ... and ultimately cure them. NIH Patient Recruitment for Angelman Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

9

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 ...

10

Aicardi Syndrome  

MedlinePLUS

... males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of ...

11

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. ...

12

Marfan Syndrome  

MedlinePLUS

... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

13

Down Syndrome  

MedlinePLUS

... Body Works Main Page The Pink Locker Society Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

14

Turner Syndrome  

MedlinePLUS

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

15

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 ...

16

[Styloid syndrome; Sluder's syndrome; Charlin's syndrome].  

PubMed

The styloid syndrome is caused by an irritation of the glossopharyngeal nerve from an excessive development of the styloid apophysis. Treatment consists of the resection of the same. The Sluder syndrome represents a nevralgy with origin in the sphenopalatine ganglion and a dysfunction of the parasympathetic system. The Charlin syndrome, much less frequent, manifests itself by pains in the territory of the nasociliar nerve and the ciliar ganglion. PMID:293019

Strupler, W

1979-02-01

17

Nephrotic syndrome.  

PubMed

Nephrotic syndrome refers to excessive proteinuria, with associated hypoalbuminemia, edema, and hyperlipidemia. A diverse spectrum of disorders has been associated with nephrotic syndrome and related neurologic complications, although the relative infrequency of these cases limits conclusive associations. Neurologic manifestations of nephrotic syndrome may result from hypoproteinemia, hypercoagulability, hyperlipidemia, hypertension, amyloid deposition, hormonal changes, or electrolyte disorders. Neurologic diagnosis hinges on prompt recognition of this syndrome and rational therapeutic strategies are aimed at the underlying systemic disorder. PMID:24365309

Liebeskind, David S

2014-01-01

18

HELLP syndrome  

MedlinePLUS

HELLP syndrome is a group of symptoms that occur in pregnant women who have: H -- hemolysis (the breakdown ... The cause of HELLP syndrome has not been found. HELLP syndrome occurs in about 1 to 2 out of 1,000 pregnancies, and in ...

19

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. ...

20

Usher Syndrome  

MedlinePLUS

Home Health Info Hearing, Ear Infections, and Deafness Usher Syndrome Usher Syndrome On this page What is Usher syndrome? Who is affected by Usher ... legally blind. Type 1 Type 2 Type 3 Hearing Profound deafness in both ears from birth Moderate to severe hearing loss from ...

21

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 ...

22

Rowell syndrome  

PubMed Central

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-01-01

23

Metabolic Syndrome  

MedlinePLUS

... to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. A large ... syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or ... Metabolic Syndrome Clinical Trials Clinical trials are ...

24

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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…

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

2009-01-01

25

Rowell syndrome.  

PubMed

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-11-01

26

Refeeding syndrome.  

PubMed

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly. PMID:19712606

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

27

[Bartter's syndrome].  

PubMed

Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome. PMID:15518434

Daniluk, Urszula; Kaczmarski, Maciej; Wasilewska, Jolanta; Matuszewska, Elzbieta; Semeniuk, Janusz; Sidor, Katarzyna; Krasnow, Aleksander

2004-05-01

28

Gorlin Syndrome  

PubMed Central

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

2013-01-01

29

Down Syndrome What causes Down syndrome?  

E-print Network

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

Palmeri, Thomas

30

Asperger's Syndrome  

Microsoft Academic Search

Asperger's Syndrome (AS), a Pervasive Developmental Disorder on the Autism Spectrum, is a burgeoning mental health concern faced by children, their families, schools, and mental health practitioners. Although it is a relatively new phenomenon, prevalence rates have increased 10 fold in the past decade. Whether this increase is a true increase in the prevalence of the syndrome has been the

Ernst O. Vanbergeijk; Oren Shtayermman

2005-01-01

31

Metabolic Syndrome  

MedlinePLUS

Having three or more risk factors is a sign that the body is resistant to insulin, an important hormone produced by the pancreas. ... diagnosed with the metabolic syndrome if you have three or more risk factors (see table below). FAcT SHeeT the metabolic syndrome ...

32

Angelman syndrome  

MedlinePLUS

... Genet. 2003;40(2):87-95. Dagli A, Williams CA. Angelman Syndrome. In: Pagon RA, Bird TD, Dolan CR, et ... Med Genet A. 2006;140(5):413-8. Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-95.

33

Eagle's syndrome.  

PubMed

Eagle's syndrome is a rare entity, which is not commonly suspected in clinical practice. The occurrence of similar signs in diseases other than Eagle's syndrome may make a precise diagnosis difficult and time-consuming for many clinicians. Radiological examinations are useful to make the accurate diagnosis. Three-dimensional volume-rendering CT scan is the most valuable diagnostic tool. PMID:24198961

Bouzaïdi, K; Daghfous, A; Fourati, E; Kechaou, I; Jabnoun, F; Chtioui, I

2013-01-01

34

Escobar Syndrome Mimicing Congenital Patellar Syndrome  

PubMed Central

Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

2012-01-01

35

Periodic Syndromes  

Microsoft Academic Search

\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Hereditary periodic fever syndromes are autoinflammatory diseases characterized by episodes of fever with serosal, synovial,\\u000a and\\/or skin inflammation.\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) are inherited in an autosomal\\u000a recessive manner and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), familial cold autoinflammatory syndrome\\u000a (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease

John G. Ryan; Daniel L. Kastner

36

Fetal Alcohol Syndrome  

MedlinePLUS

... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in ...

37

Olmsted Syndrome  

PubMed Central

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment. PMID:23320205

Elise Tonoli, Renata; De Villa, Damiê; Hübner Frainer, Renata; Pizzarro Meneghello, Luana; Ricachnevsky, Nelson; de Quadros, Maurício

2012-01-01

38

Apert syndrome  

MedlinePLUS

... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

39

Wellens' syndrome.  

PubMed

A 31-year-old male smoker with diabetes mellitus presented with intermittent, exertional chest pain. Electrocardiography revealed anterior T-wave inversions with biphasic lateral T waves, which raised concern about Wellens' syndrome. PMID:25551527

Kannan, Lakshmi; Figueredo, Vincent M

2015-01-01

40

Troyer Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Troyer Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

41

Marfan Syndrome  

MedlinePLUS

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

42

Marfan syndrome  

MedlinePLUS

Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

43

Alagille Syndrome  

MedlinePLUS

... person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal ... for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart ...

44

Moebius Syndrome  

MedlinePLUS

... syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, ... areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms ...

45

Alport Syndrome  

MedlinePLUS

... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... Register Now KEEP Healthy Event at Terre Haute Boys and Girls Club Mar 01, 2015 KEEP Healthy Event at ...

46

Reye syndrome  

MedlinePLUS

... may be used to diagnose Reye syndrome: Blood chemistry tests Head CT or head MRI scan Liver ... RM, Behrman RE,Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia ,Pa: Saunders ...

47

Asperger syndrome  

MedlinePLUS

... is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat ... syndrome is a pervasive developmental disorder (PDD) or autism spectrum disorder (ASD). The main difference between Asperger ...

48

Piriformis Syndrome  

MedlinePLUS

... and lifestyle changes. Failure to treat this condition can lead to permanent nerve damage, so be sure to follow your doctor’s instructions. Self-care tips for piriformis syndrome include the following: ...

49

Aortoduodenal syndrome.  

PubMed

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

Takagi, H; Watanabe, T; Umemoto, T

2014-09-12

50

Cushing's Syndrome  

MedlinePLUS

... Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on ...

51

Cushing syndrome  

MedlinePLUS

... Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 15. Susmeeta TS, Nieman LK. Cushing's syndrome: all variants, detection, and treatment. Endocrinol Metab Clin ...

52

Bartter syndrome  

MedlinePLUS

... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

53

Aicardi syndrome  

MedlinePLUS

... the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all ... Aicardi syndrome if they meet the following criteria: Corpus callosum that is partly or completely missing Female ...

54

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 ...

55

Metabolic Syndrome  

MedlinePLUS

... to manage your condition. Medications can also treat risk factors such as high blood pressure or high blood glucose. If you think you have risk factors for the metabolic syndrome, talk with your doctor. ...

56

Gardner Syndrome  

MedlinePLUS

... syndrome also have a higher risk of developing colorectal cancer and other FAP-related cancers . Other features of ... person with multiple adenomatous colon polyps and/or colorectal cancer along with some of the benign tumors listed ...

57

[Ogilvie's syndrome].  

PubMed

"Ogilvie's syndrome" or the idiopathic dilatation of the colon is an infrequent pathology whose underlying physiopathology is not yet well known. On the basis of their experience and having reviewed the literature, the authors affirm that this syndrome is caused by the inhibition of gastrointestinal hormones which, under the control of the neurohypophysis, contribute to colon motility. This supposition is backed up by the fact that medical treatment with somatostatin or octreotide leads to the resolution of the disorder. PMID:9676186

Vadalà, G; Santonocito, G; Mangiameli, A; Castorina, R; Caragliano, L; Caragliano, P

1998-05-01

58

Cardiometabolic Syndrome  

Microsoft Academic Search

\\u000a Cardiometabolic syndrome is a common condition that is increasing in prevalence in the USA and developing nations. Epidemiological\\u000a studies indicate a strong association between cardiometabolic syndrome and subsequent risks for diabetes and cardiovascular\\u000a events. Accumulating evidence suggests it may also be a risk factor for incident chronic kidney disease (CKD) and cardiovascular\\u000a events in individuals with pre-existing CKD. In studies

Manjula Kurella Tamura; Tara I. Chang

59

Turner Syndrome  

Microsoft Academic Search

\\u000a Turner syndrome (TS) or monosomy X, is the most common cause of hypergonadotropic hypogonadism in girls and young women. This\\u000a chapter reviews the prevalence and different presentations of the syndrome and explains its chromosomal origins. The interpretation\\u000a of chromosomal studies in diagnosis of and prognosis for TS, including prenatal testing, is reviewed. The most recent data\\u000a on the TS phenotypic

Carolyn A. Bondy

60

[Edwards' syndrome].  

PubMed

Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type. PMID:455513

Zuntová, A; Goetz, P; Macek, M; Karpenko, A

1979-05-01

61

Noonan syndrome  

PubMed Central

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2014-01-01

62

Central Pain Syndrome  

MedlinePLUS

NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

63

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 ...

64

Androgen insensitivity syndrome  

MedlinePLUS

... of the penis Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology . 11th ed. St. Louis, Mo: ...

65

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... for ENews Home > Lung Disease > Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome Hantavirus pulmonary syndrome (HPS) is a disease that comes ... may improve a person's chances of recovery. Understanding Hantavirus Pulmonary Syndrome Symptoms, Diagnosis and Treatment Preventing Hantavirus ...

66

Marfan syndrome masked by Down syndrome?  

Microsoft Academic Search

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare.\\u000a We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly\\u000a few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic\\u000a expression of Marfan syndrome

J. C. Vis; K. van Engelen; J. Timmermans; B. C. J. Hamel; B. J. M. Mulder

2009-01-01

67

Proteus syndrome.  

PubMed

Proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry of the skull, body, arms, and the legs. The name "Proteus" of the Greek god who had the ability to change his shape was coined to define the variety of deformities including partial gigantism of the hands or feet, asymmetry of the arms and legs, hypertrophy of long bones, plantar hyperplasia, haemangiomas, lipomas, varicosities, linear verrucous epidermal naevi, macrocephaly, and cranial hyperostoses. The basic defect seems to be the focal overgrowth of cellular elements in skin, bone, and other connective tissues. The variable features of the syndrome make differential diagnosis challenging for clinicians. The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic and incompletely delineated syndrome, the patients must be followed up because of the possible risk of neoplasms. PMID:14649692

Bilkay, Ufuk; Tokat, Cenk; Ozek, Cuneyt; Gundogan, Hakan; Erdem, Ozgur; Gurler, Tahir; Cagdas, Arman

2003-01-01

68

Compartment syndromes  

NASA Technical Reports Server (NTRS)

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.

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

1989-01-01

69

Apert's Syndrome  

PubMed Central

ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

2014-01-01

70

Cardiorenal syndromes  

PubMed Central

Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

McCullough, Peter A; Ahmad, Aftab

2011-01-01

71

Flammer syndrome  

PubMed Central

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

2014-01-01

72

Flammer syndrome.  

PubMed

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

Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

2014-01-01

73

Cardiohepatic Syndrome.  

PubMed

Accumulating evidence shows that acute as well as chronic heart disease can directly contribute to an acute or chronic worsening of liver function and vice versa. Description and definition of cardiohepatic syndrome (CHS) in this review are based on the cardiorenal syndrome (CRS) concept. The eye-catching analogy between CHS and CRS is applied to facilitate an understanding of the pathophysiology and overall burden of disease for each of the proposed CHS subtypes, their natural course, and associated morbidity and mortality. PMID:25391350

Poelzl, Gerhard; Auer, Johann

2014-11-13

74

Piriformis syndrome.  

PubMed

The author presents a case of a female runner with left buttock pain aggravated by exercise. She underwent extensive testing by other physicians and received cortisone injections on two occasions. The patient was referred to the podiatry department because of continued discomfort and the inability to run. Examination revealed pain on hip flexion and abduction against resistance. Because of the possibility of piriformis syndrome, she started stretching exercises, reduced her activity, and the pain disappeared. The diagnosis of piriformis syndrome was confirmed by a general surgeon. PMID:2724111

Julsrud, M E

1989-03-01

75

Eagle syndrome.  

PubMed

Eagle syndrome, also known as elongated styloid process, is a condition first described by Watt Eagle in 1937. It occurs when an elongated styloid process or calcified stylohyoid ligament causes recurrent throat pain or foreign body sensation, dysphagia, or facial pain. Additional symptoms may include neck or throat pain with radiation to the ipsilateral ear. It is usually hard to diagnose because the symptoms related to this condition can be confused with those attributed to a wide variety of facial neuralgias. In this article, a case of Eagle syndrome exhibiting unilateral symptoms with bilateral elongation of styloid process is reported. PMID:24406612

Ferreira, Pedro Costa; Mendanha, Mário; Frada, Tiago; Carvalho, Jorge; Silva, Alvaro; Amarante, José

2014-01-01

76

Asperger Syndrome  

MedlinePLUS

... Organizations Column1 Column2 MAAP Services for Autism, Asperger Syndrome, and PDD P.O. Box 524 Crown Point, IN 46308 info@aspergersyndrome.org http://www.aspergersyndrome.org/ Tel: 219-662-1311 Fax: 219-662-1315 Autism Science Foundation 29 West 39th Street Suite 502 New York, NY 10018 ...

77

Klinefelter Syndrome  

MedlinePLUS

... testosterone. That doesn't make a guy less male, but it can affect things like penis and testicle growth. Boys with Klinefelter syndrome may ... bigger muscles, a deeper voice, growth of the penis, and facial and body ... or reverse infertility. Physical therapy, occupational therapy, and ...

78

[SAPHO syndrome].  

PubMed

The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

2014-10-01

79

Metabolic Syndrome  

MedlinePLUS

... Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you eat into glucose (a form of sugar). Insulin is a hormone produced by the pancreas that allows ... as insulin resistance. If you have insulin resistance, your body will ...

80

[Locomotive syndrome and metabolic syndrome].  

PubMed

The Japanese Orthopedic Association coined the term locomotive syndrome (LS) to designate a condition of elderly people in high risk groups of requiring nursing care because of problems with their musculoskeletal diseases. LS is a socioeconomic concept, and closely associated with osteoporosis, osteoarthritis, and sarcopenia. Recent studies have revealed that metabolic syndrome (MS), a clustering of cardiovascular risk factors, has been related with LS. For example, individuals with MS have a greater risk of osteoarthritis and sarcopenia. Secreted factors from adipose tissue and skeletal muscles, namely, adipokines and myokines, are involved in the association of LS and MS. PMID:25509811

Fukushi, Jun-ichi; Iwamoto, Yukihide

2014-10-01

81

The Source for Syndromes.  

ERIC Educational Resources Information Center

Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

Richard, Gail J.; Hoge, Debra Reichert

82

Syndrome in question. MAGIC syndrome.  

PubMed

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

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

2014-01-01

83

Dravet syndrome  

PubMed Central

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB). DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+). PMID:19737414

Incorpora, Gemma

2009-01-01

84

Overtraining Syndrome  

PubMed Central

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

Kreher, Jeffrey B.; Schwartz, Jennifer B.

2012-01-01

85

Brugada syndrome.  

PubMed

As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously or after provocation with sodium channel-blocking agents. Risk stratification and the need for treatment depend on the patient's symptoms, electrocardiography, family history, and electrophysiological inducibility to discern if treatment by implantable cardioverter defibrillator, the only effective treatment to date, is appropriate. This review focuses on Brugada syndrome and various aspects of the disease including proposed mechanisms, epidemiology, clinical presentations, genetics, diagnosis, risk stratification, and treatment options. PMID:23535677

Jellins, Jessica; Milanovic, Mitchell; Taitz, David-Joel; Wan, S H; Yam, P W

2013-04-01

86

Broken Heart Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What is Broken Heart Syndrome Broken heart syndrome is a condition in ... disorder and how to diagnose and treat it. Broken Heart Syndrome Versus Heart Attack Symptoms of broken heart ...

87

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 ...

88

Respiratory Distress Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Respiratory Distress Syndrome? Respiratory distress syndrome (RDS) is a breathing disorder that ... damage. Rate This Content: Next >> January 24, 2012 Respiratory Distress Syndrome Clinical Trials Clinical trials are research ...

89

Polycystic Ovary Syndrome  

MedlinePLUS

... condition called polycystic ovary sydrome (PCOS) . What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ... having PCOS later on. Back Continue How Is Polycystic Ovary Syndrome Diagnosed? If you've taken your concerns about ...

90

Anesthesia & Down Syndrome  

MedlinePLUS

... disorders (such as celiac disease and hypothyroidism), diabetes, dementia, depression, epilepsy, hypotonia, obesity and osteoporosis. Some of ... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ...

91

Heart and Down Syndrome  

MedlinePLUS

... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ... End of Life Considerations Emotional & Psychiatric Well-Being Alzheimer's Disease An Introduction to Alzheimer's Disease A Caregiver's Guide ...

92

Fragile X Syndrome  

MedlinePLUS

... Was Just Figuring Out CGG Repeats! | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic ... and generally with greater severity. Features of Fragile X Syndrome in Males Read our Story The majority ...

93

Genetic obesity syndromes.  

PubMed

There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

Goldstone, Anthony P; Beales, Philip L

2008-01-01

94

[Lemierre's syndrome].  

PubMed

Lemierre's syndrome is a rare disease, mostly affecting young adults in good health, which can lead to significant morbidity and mortality. We report one case with favourable outcome and clinical features stereotypics: angina, septic thrombosis of the internal jugular vein, pulmonary septic metastasis, Fusobacterium necrophorum on blood cultures. Antibiotic therapy targeting anaerobes has been rapidly initiated and maintained 4-6 weeks. The anticoagulation has been maintained 4 weeks. PMID:21035996

Courtin, P; Toro, A; Gazagnes, M; Berrouba, A; Gallardo, M; Dembele, A

2010-11-01

95

[Eagle's Syndrome].  

PubMed

Eagle's Syndrome is an entity that is rarely clinically and anatomopathologically identified, and is defined as the elongation of the styloid process and/or the calcification of the styloid ligament. It produces intense pain in the craniocervical region and limitation of cervical movements. It can be mistaken for temporomandibular joint dysfunction. The diagnosis of this entity can be done by physical examination with palpation of the styloid process in the tonsillar fossa, and radiological studies help confirm the diagnosis. PMID:24108342

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes

2013-01-01

96

Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo

97

Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans  

Microsoft Academic Search

Synthesis of glycosaminoglycans (GAGS) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between

Valery Kukharenko; Svetlana Sheleg; Mikhail Freudine; Elena Pichugina; Alexander Delvig

1994-01-01

98

Brugada Syndrome  

PubMed Central

First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

ANTZELEVITCH, CHARLES

2007-01-01

99

Gitelman syndrome.  

PubMed

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

2013-01-01

100

Nutcracker syndrome.  

PubMed

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-11-01

101

[Crush syndrome].  

PubMed

Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure. PMID:17641588

Scapellato, S; Maria, S; Castorina, G; Sciuto, G

2007-08-01

102

Paraneoplastic syndromes  

SciTech Connect

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.

Weller, R.E.

1986-10-01

103

Antiphospholipid syndrome  

PubMed Central

Antiphospholipid syndrome is diagnosed when arterial or venous thrombosis or recurrent miscarriages occur in a person in whom laboratory tests for antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant and/or anti-beta 2-glycoprotein I) are positive. Despite the strong association between antiphospho-lipid antibodies and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. Novel mechanisms involving both the complement pathway and micro-particles have been described. The knowledge of these new pathogenic approaches might identify novel therapeutic targets and therefore may improve the management of these patients. PMID:19090981

Espinosa, Gerard; Cervera, Ricard

2008-01-01

104

Alport's syndrome.  

PubMed Central

Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000. During the last six years several type IV collagen genes have been implicated in the aetiology of AS, and mutation detection studies are enabling genotype/phenotype correlations to be made, as well as facilitating carrier detection and prenatal diagnosis. Images PMID:9138159

Flinter, F

1997-01-01

105

Mazabraud syndrome  

PubMed Central

A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported. PMID:23961498

John, Anulekha Mary; Behera, Kishore Kumar; Mathai, Thomas; Parmar, Harshad; Paul, Thomas V.

2013-01-01

106

Jacobsen syndrome  

PubMed Central

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

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

2009-01-01

107

[SAPHO syndrome].  

PubMed

SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome is a rare entity characterized by the association of heterogeneous osteoarticular and cutaneous manifestations that have for common denominator an aseptic inflammatory process. The etiopathogeny of this disease is still a matter of debate. Although it has been related to the spondylarthritis family, an infectious origin is suggested. Diagnosis is based on the presence of at least one of the three diagnostic criteria proposed by Kahn. The treatment includes NSAIDs, antibiotics, corticosteroids, methotrexate and more recently the bisphosphonates and the TNF? inhibitors. PMID:24797142

Gharsallah, I; Souissi, A; Dhahri, R; Boussetta, N; Sayeh, S; Métoui, L; Ajili, F; Louzir, B; Othmani, S

2014-09-01

108

Griscelli syndrome.  

PubMed

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

2014-08-01

109

Post-Polio Syndrome  

MedlinePLUS

NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Organizations Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

110

Dandy-Walker Syndrome  

MedlinePLUS

NINDS Dandy-Walker Syndrome Information Page Table of Contents (click to jump to sections) What is Dandy-Walker Syndrome? Is there ... being done? Clinical Trials Organizations What is Dandy-Walker Syndrome? Dandy-Walker Syndrome is a congenital brain ...

111

Epidemiology of Turner syndrome  

Microsoft Academic Search

The epidemiology of Turner syndrome is largely unknown. A few studies of prevalence and incidence of the syndrome have been performed based on large chromosome surveys, and based on these studies it may be estimated that Turner syndrome occur in 50 per 100,000 liveborn females. A considerable delay in diagnosis of new cases of Turner syndrome exists in all studied

Claus Højbjerg Gravholt; Kirstine Stochholm

2008-01-01

112

Guillain-Barré Syndrome  

MedlinePLUS

NINDS Guillain-Barré Syndrome Information Page Condensed from Guillain-Barré Syndrome Fact Sheet Table of Contents (click to jump to ... Trials Organizations Additional resources from MedlinePlus What is Guillain-Barré Syndrome? Guillain-Barré syndrome is a disorder in ...

113

Lesch-Nyhan Syndrome  

MedlinePLUS

NINDS Lesch-Nyhan Syndrome Information Page Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is ... is being done? Clinical Trials Organizations What is Lesch-Nyhan Syndrome? Lesch-Nyhan syndrome (LNS) is a rare, ...

114

[Hyponatremic syndrome].  

PubMed

Sodium, the most important extracellular fluid electrolyte, is the focus of several homeostatic mechanisms that regulate fluid and electrolyte balance. Hyponatremia is a common electrolyte abnormality caused by an actual sodium deficiency or extracellular compartment fluid excess. Clinical symptoms are related with acuity and speed with which this abnormality is established. The symptoms are mainly neurological and neuromuscular disorders (headache, confusion, stupor, seizures, coma) due to brain cells edema. Hyponatremia due to sodium deficiency is caused by sodium loss from kidney (nephritis, diuretics, mineralocorticoid deficiency) and / or extrarenal (vomiting, diarrhea, burns). Hyponatremia due to water excess seems to be the most common and it is attributable to cirrhosis, nephrotic syndrome, heart failure, infusion 5% glucose solutions and drugs that stimulate ADH secretion. It was recently highlighted the role of inflammation and IL-6 in the non-osmotic ADH release. Hyponatremia is considered also marker of phlogosis. Acute (<48 h) and severe (<125 mEq/ L) hyponatremia is a medical emergency that requires prompt correction. Patients with chronic hyponatremia have a high risk of osmotic demyelination syndrome if rapid correction of the plasmatic sodium occurs. In combination with conventional therapy, a new class of drugs, vasopressin receptors antagonists (AVP-R antagonists) would be able to increase the excretion of electrolyte-free water and the serum sodium concentration. PMID:22362242

Urso, C; Caimi, G

2012-01-01

115

Periodic Fever Syndromes  

Microsoft Academic Search

The periodic syndromes represent a heterogeneous group of disorders that can be very difficult for practicing physicians to\\u000a diagnosis and treat. This article presents an orderly approach to hyperimmunoglobulin D syndrome; tumor necrosis factor receptor-1\\u000a periodic syndrome; familial Mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome;\\u000a and cryopyrin-associated periodic syndromes by highlighting the disease presentation, diagnosis, pathogenesis,

Zachary Jacobs; Christina E. Ciaccio

2010-01-01

116

Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans.  

PubMed

Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between postnatal aneuploid strains and controls. PMID:8034299

Kukharenko, V; Sheleg, S; Freudine, M; Pichugina, E; Delvig, A

1994-07-01

117

Noonan syndrome.  

PubMed

Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ?50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. PMID:21771153

Turner, Anne M

2014-10-01

118

Nodding Syndrome  

PubMed Central

An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

2013-01-01

119

Noonan syndrome  

PubMed Central

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

van der Burgt, Ineke

2007-01-01

120

Prenatal Tests for Down Syndrome  

MedlinePLUS

... syndrome is a common birth defect that includes mental retardation and—often—heart problems. Children with Down syndrome ... Down syndrome varies, all have some degree of mental retardation. What Causes Down Syndrome? The egg from the ...

121

Cogan and Behcet Syndromes.  

PubMed

Cogan and Behcet syndromes are considered large vessel vasculitides. Both are rare diseases, with varied clinical manifestations affecting multiple organ systems. Although both have hallmark symptoms (ocular and vestibuloauditory inflammation in Cogan syndrome and aphthous ulcers in Behcet syndrome), neither has confirmatory diagnostic testing. Delayed diagnosis can result in poor outcomes. In both syndromes, large vessel arterial inflammation may result in severe morbidity and mortality. Treatment strategies in both syndromes vary based on organ system involvement and severity of manifestations. In this article, the epidemiology, proposed pathogenesis, manifestations, and the most current treatment paradigms for these syndromes are reviewed. PMID:25399941

Singer, Ora

2015-01-01

122

Premenstrual syndrome  

PubMed Central

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

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

2011-01-01

123

Tourette's syndrome.  

PubMed

Tourette's syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports and preliminary controlled studies it is suggested that - at least in a subgroup of patients - cannabinoids are effective in the treatment of TS. While most patients report beneficial effects when smoking marijuana (Cannabis sativa L.), available clinical trials have been performed using oral ??-tetrahydrocannabinol (THC). In otherwise treatment-resistant TS patients, therefore, therapy with THC should not be left unattempted. To date, it is unknown whether other drugs that interact with the endocannabinoid receptor system might be more effective in the treatment of TS than smoked marijuana or pure THC. Since it has been suggested that abnormalities within the endocannabinoid receptor system might underlie TS pathophysiology, it would be of interest to investigate the effect of substances that for example bind more selectively to the central cannabinoid receptor or inhibit the uptake or the degradation of different endocannabinoids. PMID:21104394

Müller-Vahl, Kirsten R

2009-01-01

124

Kawasaki Syndrome  

PubMed Central

Kawasaki syndrome (KS) is an acute, sometimes fatal vasculitis of young children. KS has replaced acute rheumatic fever as the most common cause of acquired heart disease in children in the United States. The illness is manifested by prolonged fever, conjunctival injection, enanthem, exanthem, erythema and swelling of the hands and feet, and cervical adenopathy. These acute features of illness are self-limiting, but coronary artery abnormalities occur in 20% of untreated patients. The etiology of the illness is unknown, but its clinical and epidemiologic features are most consistent with an infectious cause. Common cardiovascular manifestations of the illness include myocarditis, pericardial effusion, and coronary artery aneurysm formation. Treatment with intravenous gamma globulin (IVGG) and aspirin within the first 10 days of illness reduces the prevalence of coronary artery abnormalities from 20% in those treated with aspirin alone to 4%. Patients who develop coronary artery aneurysms, particularly those who develop giant coronary artery aneurysms, may suffer myocardial infarction secondary to thrombosis or stenosis in the abnormal vessel. Additional research to determine the cause of KS is urgently needed to allow for improved diagnosis, more specific therapy, and prevention of the disorder. PMID:9665974

Rowley, Anne H.; Shulman, Stanford T.

1998-01-01

125

Asherman's syndrome.  

PubMed

Asherman's syndrome is being diagnosed with increasing frequency. Although it usually occurs following curettage of the pregnant or recently pregnant uterus, any uterine surgery can lead to intrauterine adhesions (IUA). Most women with IUA have amenorrhea or hypomenorrhea, but up to a fourth have painless menses of normal flow and duration. Those who have amenorrhea may also have cyclic pelvic pain caused by outflow obstruction. The accompanying retrograde menstruation may lead to endometriosis. In addition to abnormal menses, infertility and recurrent spontaneous abortion are common complaints. Hysteroscopy is the standard method to both diagnose and treat this condition. Various techniques for adhesiolysis and for prevention of scar reformation have been advocated. The most efficacious appears to be the use of miniature scissors for adhesiolysis and the placement of a balloon stent inside the uterus immediately after surgery. Postoperative estrogen therapy is prescribed to stimulate endometrial regrowth. Follow-up studies to assure resolution of the scarring are mandatory before the patient attempts to conceive as is careful monitoring of pregnancies for cervical incompetence, placenta accreta, and intrauterine growth retardation. PMID:21437822

March, Charles M

2011-03-01

126

Pierre Robin syndrome  

MedlinePLUS

Pierre Robin sequence; Pierre Robin complex; Pierre Robin anomaly ... The exact causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly before birth, but may ...

127

Treacher Collins Syndrome  

MedlinePLUS

... of this factsheet, click here What is Treacher Collins Syndrome? Treacher Collins syndrome is the name given to a birth ... affected individual to another. A physician named Treacher Collins was one of the first to describe this ...

128

Tourette Syndrome Association  

MedlinePLUS

... recommends that care and treatment decisions related to Tourette Syndrome and any other medical condition be made ... Return to the TSA Home Page ©2007-2015 Tourette Syndrome Association, Inc. / 42-40 Bell Boulevard / Bayside ...

129

[Postpneumonectomy syndrome in adulthood].  

PubMed

A case of postpneumonectomy syndrome in a 50 years old patient, operated for right sided bronchiectasis 40 years ago, is presented. The clinical course and radiological features of the syndrome are described. PMID:16536007

Botnaru, V; Gavriliuc, A; Mihalache, Violeta; Margine, Daniela

2005-01-01

130

What Is Marfan Syndrome?  

MedlinePLUS

... on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

131

What Causes Down Syndrome?  

MedlinePLUS

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

132

Restless legs syndrome  

MedlinePLUS

... and restless legs syndrome: a systematic review and meta-analysis. Eur J Neurol. 2013;20:605-615. Wilt ... primary restless legs syndrome: a systematic review and meta-analysis. JAMA Internal Med. 2013;173:496-505.

133

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.

134

Ovarian hyperstimulation syndrome  

MedlinePLUS

Ovarian hyperstimulation syndrome (OHSS) is a problem that is sometimes seen in women who take fertility medicines ... the belly and chest area. This is called ovarian hyperstimulation syndrome (OHSS). OHSS occurs only after the ...

135

Diabetic hyperglycemic hyperosmolar syndrome  

MedlinePLUS

Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of type 2 diabetes . It involves extremely high blood ... Diabetic hyperglycemic hyperosmolar syndrome is a condition of: Extremely high blood sugar (glucose) level Extreme lack of ...

136

Hantavirus Pulmonary Syndrome (HPS)  

MedlinePLUS

... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

137

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... Diseases Division of High-Consequence Pathogens and Pathology Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome (HPS) is a rare but severe, ... respiratory disease in humans caused by infection with hantavirus. What are the symptoms of HPS? Early Symptoms: • ...

138

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 ...

139

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 ...

140

Prune belly syndrome  

MedlinePLUS

Prune belly syndrome is a group of birth defects that involve three main problems: Poor development of the abdominal ... The causes of prune belly syndrome are unknown. The condition ... womb, the developing baby's abdomen swells with fluid, often ...

141

Fetal alcohol syndrome  

MedlinePLUS

Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks ... is at risk for having a child with fetal alcohol syndrome. There is no "safe" level of alcohol use ...

142

Lesch-Nyhan syndrome  

MedlinePLUS

Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body ... Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait . It occurs mostly in ...

143

Autoimmune polyglandular syndromes  

Microsoft Academic Search

The autoimmune polyglandular syndromes—a group of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases—differ in their component diseases and in the immunologic features of their pathogenesis. One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of

Peter A. Gottlieb; Aaron W. Michels

2010-01-01

144

Large vestibular aqueduct syndrome.  

PubMed

Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients. PMID:16570713

Dipak, S; Prepageran, N; Sazila, A S; Rahmat, O; Raman, R

2005-10-01

145

Families and Fragile Syndrome  

E-print Network

Families and Fragile Syndrome U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES PUBLIC HEALTH 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

Rau, Don C.

146

Learning about Turner Syndrome  

MedlinePLUS

... hormone replacement therapy. Top of page How is Turner syndrome diagnosed? A diagnosis of Turner syndrome may be suspected when there are a number ... slow growth rate and other features are identified. Diagnosis sometimes takes place later ... syndrome may be suspected in pregnancy during an ultrasound ...

147

Morbidity in Turner Syndrome  

Microsoft Academic Search

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome.

Claus Højbjerg Gravholt; Svend Juul; Rune Weis Naeraa; Jan Hansen

1998-01-01

148

Guillain-Barré Syndrome  

MedlinePLUS

... Body Works Main Page The Pink Locker Society Guillain-Barré Syndrome KidsHealth > Kids > Health Problems > Bones, Muscles & Joints > ... Is GBS Treated? Recovering From GBS What Is Guillain-Barré Syndrome? Guillain-Barré syndrome (say: GHEE-yan bah- ...

149

[Morning glory syndrome].  

PubMed

In 1970, Kindier described the morning glory syndrome. This syndrome is a congenital abnormality of the optic nerve with unilateral presence and very low incidence. It is characterized by an enlarged optical disc, deep excavation, presence of traces of radial glia, and arrangement of retinal vascularization. This report describes the fundoscopic image in a patient with morning glory syndrome. PMID:21412399

López-Lizárraga, Erika Paulina; Bolaños-Jiménez, Rodrigo; Treviño-Alanís, M Guadalupe; Rivera-Silva, Gerardo

2011-01-01

150

Turner Syndrome (For Parents)  

MedlinePLUS

... shorter than average and infertile due to early loss of ovarian function. About Turner Syndrome Turner syndrome (TS) was first described in 1938 ... requiring spatial skills, such as map reading or visual organization. ... in girls with Turner syndrome. Although they aren't at increased risk for ...

151

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 ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

152

CONSTIPATION IN RETT SYNDROME  

Technology Transfer Automated Retrieval System (TEKTRAN)

Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

153

Fibromyalgia syndrome.  

PubMed

The fibromyalgia syndrome (FM) workshop at OMERACT 8 continued the work initiated in the first FM workshop at OMERACT 7 in 2004. The principal objectives were to work toward consensus on core domains for assessment in FM studies, evaluate the performance quality of outcome measures used in a review of recent trials in FM, and discuss the research agenda of the FM working group. An initiative to include the patient perspective on identification and prioritization of domains, consisting of focus groups and a patient Delphi exercise, was completed prior to OMERACT 8. Patient-identified domains were, for the most part, similar to those identified by clinician-investigators in terms of symptoms and relative importance. However, patients identified certain domains, such as stiffness, that were not included by physicians, and emphasized the importance of domains such as dyscognition and impaired motivation. Many of the principal domains agreed upon by the clinician-investigators, patients, and OMERACT participants, including pain, fatigue, sleep, mood, and global measures, have been used in clinical trials and performed well when viewed through the OMERACT filter. The research agenda items reviewed and approved for continued study included development of objective "biomarkers" in FM, development of a responder index for FM, and coordination with the WHO's International Classification of Functioning Disability and Health (ICF) Research Branch and the US National Institutes of Health's Patient Reported Outcome Measures Information System network (PROMIS) to develop improved measures of function, quality of life, and participation. The OMERACT process has provided a framework for identification of key domains to be assessed and a path toward validation and standardization of outcome measures for clinical trials in FM. PMID:17552068

Mease, Philip; Arnold, Lesley M; Bennett, Robert; Boonen, Annelies; Buskila, Dan; Carville, Serena; Chappell, Amy; Choy, Ernest; Clauw, Daniel; Dadabhoy, Dina; Gendreau, Michael; Goldenberg, Don; Littlejohn, Geoffrey; Martin, Susan; Perera, Philip; Russell, I Jon; Simon, Lee; Spaeth, Michael; Williams, David; Crofford, Leslie

2007-06-01

154

Barth syndrome  

PubMed Central

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

2013-01-01

155

A Rare Variant of Wallenberg's Syndrome: Opalski syndrome.  

PubMed

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg's syndrome which did not have all the classical components of the syndrome, like Horner's syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

Kk, Parathan; R, Kannan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-07-01

156

Polycystic Ovary Syndrome and Metabolic Syndrome  

Microsoft Academic Search

The polycystic ovary syndrome (PCOS) is a very common disorder with important short-term and long-term consequences. Indeed,\\u000a affected women manifest many clinical and biochemical features of metabolic syndrome, putting them at increased risk for diabetes\\u000a and cardiovascular diseases. In the past 15 years, the key role of insulin resistance (IR) in the pathogenesis of PCOS has\\u000a been stressed, and this

Marie-Hélène Pesant; Jean-Patrice Baillargeon

157

Behavioral Phenotypes in Children with Down Syndrome, Prader-Willi Syndrome, or Angelman Syndrome  

Microsoft Academic Search

This study investigated the concept of behavioral phenotypes by comparing behavior ratings of 91 children with Down syndrome, 28 children with Prader-Willi syndrome, 68 children with Angelman syndrome, and 24 children with nonspecific mental retardation. Results supported distinctive behavioral profiles for the syndrome groups. The Down syndrome group showed good social skills and low ratings of problem behaviors including hyperactivity.

Nicolay Chertkoff Walz; Betsey A. Benson

2002-01-01

158

Metabolic Syndrome and Migraine  

PubMed Central

Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

Sachdev, Amit; Marmura, Michael J.

2012-01-01

159

[Menopause and metabolic syndrome].  

PubMed

The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome. PMID:24830585

Meirelles, Ricardo M R

2014-03-01

160

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 ...

161

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 ...

162

Genetics Home Reference: Roberts syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Roberts syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed January 2009 What is Roberts syndrome? Roberts syndrome is a genetic disorder characterized ...

163

Genetics Home Reference: Down syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Down syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed June 2012 What is Down syndrome? Down syndrome is a chromosomal condition that is ...

164

Down Syndrome and Alzheimer's Disease  

MedlinePLUS

Down Syndrome and Alzheimer's Disease Tweet As they age, those affected by Down syndrome have a greatly increased ... disease. About Symptoms Diagnosis Causes & risks Treatments About Down Syndrome and Alzheimer's Higher prevalence of Alzheimer's in people ...

165

Osler-Weber-Rendu syndrome  

MedlinePLUS

... Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding. ... Osler-Weber-Rendu syndrome is a condition passed down through ... syndrome, but it involves proper development of blood vessels.

166

Lambert-Eaton Myasthenic Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Lambert-Eaton Myasthenic Syndrome Information Page Table of Contents ( ... is being done? Clinical Trials Organizations What is Lambert-Eaton Myasthenic Syndrome? Lambert-Eaton myasthenic syndrome (LEMS) ...

167

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 ...

168

Complex regional pain syndrome.  

PubMed

Complex regional pain syndrome is a chronic pain syndrome that is often instigated by postoperative or post-traumatic events. The disease process can progress through three stages, the first of which tends to respond best to treatment. A review of the literature is presented, followed by a report of a patient who developed symptoms of complex regional pain syndrome following a water-skiing accident. PMID:10546427

Hernandez, W; Raja, A; Capuano, C

1999-10-01

169

Chromosome instability syndromes  

SciTech Connect

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.

NONE

1993-12-31

170

Cushing's syndrome in pregnancy.  

PubMed

Abstract Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation. PMID:25430821

Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

2015-02-01

171

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 ...

172

Autoimmune polyendocrine syndromes.  

PubMed

Autoimmune polyendocrine syndromes (APS), also called polyglandular autoimmune syndromes (PGAS), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected. The two major autoimmune polyendocrine syndromes, (type1-type2/APS-1 and APS-2), both have Addison's disease as a prominent component. Further autoimmune polyendocrine syndromes include APS3 and APS4. The major autoimmune polyendocrine syndromes have a strong genetic component with the type 2 syndrome occurring in multiple generations and the type I syndrome in siblings. It is well recognized that more than 20years may elapse between the onset on one endocrinopathy and the diagnosis of the next, for example, almost 40-50% of subjects with Addison's disease will develop an associated endocrinopathy. The discovery of the polyendocrine autoimmune syndromes offered the possibility to understand autoimmune disorders with particular interest for type 1A diabetes and the neuroendocrine immunology (NEI) is further contributing to understand the links. PMID:24055063

Cutolo, Maurizio

2014-02-01

173

Cri du Chat syndrome  

Microsoft Academic Search

Cri du Chat syndrome is a rare genetic condition affecting the short arm of chromosome 5. A range of clinical features, including the characteristic “cat-like” cry and developmental delay, is recognized in children with the syndrome. A higher incidence of certain paediatric orthopaedic conditions such as scoliosis, developmental dysplasia of the hip and pes planus and varus has also been

Lyndsay Cuming; Donna Diamond; Rouin Amirfeyz; Martin Gargan

2010-01-01

174

The SAHA Syndrome  

Microsoft Academic Search

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.

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

2000-01-01

175

Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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…

Wachtel, Tom J.; Pueschel, Siegfried M.

1991-01-01

176

Plummer-Vinson syndrome.  

PubMed

Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. PMID:16978405

Novacek, Gottfried

2006-01-01

177

Plummer-Vinson syndrome  

MedlinePLUS

Plummer-Vinson syndrome is a condition that can occurs in people with long-term (chronic) iron deficiency anemia . People ... The cause of Plummer-Vinson syndrome is unknown. Genetic factors ... nutrients (nutritional deficiencies) may play a role. It is a ...

178

Plummer-Vinson syndrome  

PubMed Central

Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. PMID:16978405

Novacek, Gottfried

2006-01-01

179

Van der Woude syndrome.  

PubMed

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial syndrome with variable expression characterised by congenital pits and sinuses in the lower lip together with cleft lip, or palate, or both. We report a case of VWS, which occurred as a new mutation, and review previous reports. PMID:12038200

Guner, Ulvi; Celik, Naci; Ozek, Cuneyt; Cagdas, Arman

2002-01-01

180

White-Nose Syndrome  

NSDL National Science Digital Library

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.

Douglas Stemke (University of Indianapolis ;)

2011-04-28

181

Prader-Willi syndrome  

Microsoft Academic Search

Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of

S B Cassidy

1997-01-01

182

PLANT DEFENSE SYNDROMES  

Microsoft Academic Search

Given that a plant's defensive strategy against herbivory is never likely to be a single trait, we develop the concept of plant defense syndromes, where association with specific ecological interactions can result in convergence on suites of covarying defensive traits. Defense syndromes can be studied within communities of diverse plant species as well as within clades of closely related species.

Anurag A. Agrawal; Mark Fishbein

2006-01-01

183

Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

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.

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

1996-01-01

184

The sick building syndrome  

PubMed Central

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

Joshi, Sumedha M.

2008-01-01

185

Myelopathy in Marfan's syndrome  

PubMed Central

A patient with Marfan's syndrome and a myelopathy is reported, and the association of multiple spinal arachnoid cysts noted. It is proposed that the basic connective tissue defect in Marfan's syndrome may predispose to the formation of arachnoid diverticuli and that in this case spinal cord damage was the sequel. Images PMID:422966

Newman, P. K.; Tilley, P. J. B.

1979-01-01

186

Synchronous moyamoya syndrome and ruptured cerebral aneurysm in Alagille syndrome  

Microsoft Academic Search

Moyamoya syndrome and cerebral aneurysm formation are rare cerebrovascular manifestations of Alagille syndrome. Although previously reported in isolation, occurrence of these complications in a single patient has not been described. We report clinical and imaging features of synchronous moyamoya syndrome and ruptured cerebral aneurysm in a patient with Alagille syndrome.

Ron C. Gaba; Rajesh P. Shah; Andrew A. Muskovitz; Grace Guzman; Edward A. Michals

2008-01-01

187

Heterogeneity in Waardenburg syndrome.  

PubMed Central

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

Hageman, M J; Delleman, J W

1977-01-01

188

Pulmonary-renal syndromes.  

PubMed

Pulmonary-renal syndromes or lung-kidney syndromes are clinical syndromes defined by a combination of diffuse alveolar haemorrhage (DAH) and glomerulonephritis. Pulmonary-renal syndromes are not a single entity, but are caused by a wide variety of diseases, including various forms of primary systemic vasculitis (especially Wegener's granulomatosis and microscopic polyangiitis), Goodpasture's syndrome (associated with autoantibodies to the alveolar and glomerular basement membrane) and systemic lupus erythematosus. The diagnosis rests on the identification of particular patterns of clinical, radiologic, pathologic and laboratory features. Serologic testing is important in the diagnostic work-up of patients presenting with a pulmonary-renal syndrome. The majority of cases of pulmonary-renal syndrome are associated with ANCAs, either c-ANCA or p-ANCA, due to autoantibodies against the target antigens proteinase-3 and myeloperoxidase respectively. The antigen target in Goodpasture's syndrome is type IV collagen, the major component of basement membranes. Diffuse alveolar haemorrhage is characterized by the presence of a haemorrhagic bronchoalveolar lavage (BAL) in serial BAL samples. In the clinical setting of an acute nephritis syndrome, percutaneous renal biopsy is commonly performed for histopathology and immunofluorescence studies. Treatment of generalized ANCA-associated vasculitis consists of corticosteroids and immunosuppressive agents such as cyclophosphamide (as induction therapy) or azathioprine (as maintenance therapy once remission has been achieved). The combination of plasmapheresis with these cytotoxic agents and steroids is effective in patients with Goodpasture's syndrome, especially if instituted early in the course of the disease. Recent evidence suggests that patients with severe ANCA-associated vasculitis, defined by the presence of diffuse alveolar haemorrhage and/or severe renal involvement (creatinine concentration > 5.7 mg/dl), might benefit from plasma exchange in combination with cyclophosphamide and corticosteroids. PMID:17547289

Brusselle, G G

2007-01-01

189

The Source for Syndromes 2.  

ERIC Educational Resources Information Center

Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

Richard, Gail J.; Hoge, Debra Reichert

190

Abdominal obesity and metabolic syndrome  

Microsoft Academic Search

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

Jean-Pierre Després; Isabelle Lemieux

2006-01-01

191

Down syndrome: a cardiovascular perspective  

Microsoft Academic Search

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 skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid-related cardiac impairment in patients with Down syndrome will be discussed.

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

2009-01-01

192

The epidemiology of Turner syndrome  

Microsoft Academic Search

The epidemiology of Turner syndrome is largely unknown. A few studies of prevalence and incidence of the syndrome have been performed based on large chromosome surveys, and based on these studies it may be estimated that Turner syndrome occur in 50 per 100,000 liveborn females. A considerable delay in diagnosis of new cases of Turner syndrome exists in all studied

Claus Højbjerg Gravholt; Kirstine Stochholm

2006-01-01

193

Genetics Home Reference: Partington syndrome  

MedlinePLUS

... Fact Sheet Genetic Testing Registry: Partington X-linked mental retardation syndrome You might also find information on the ... syndrome? MRX36 Partington-Mulley syndrome Partington X-linked mental retardation syndrome PRTS X-linked intellectual deficit-dystonia-dysarthria ...

194

Loin pain hematuria syndrome.  

PubMed

Loin pain hematuria syndrome is a rare disease with a prevalence of ?0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. PMID:24725981

Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

2014-09-01

195

Aflibercept in Treating Patients With Myelodysplastic Syndromes  

ClinicalTrials.gov

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Secondary Myelodysplastic Syndromes

2015-01-07

196

Personality and metabolic syndrome  

PubMed Central

The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N?=?5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n?=?2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR?=?0.61, 95% CI?=?0.41–0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR?=?1.53, 95% CI?=?1.09–2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors. PMID:20567927

Costa, Paul T.; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

2010-01-01

197

Ischemic Bilateral Opercular Syndrome  

PubMed Central

Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

Milanlioglu, Aysel; Ayd?n, Mehmet Nuri; Gökgül, Alper; Hamamc?, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

2013-01-01

198

[Post-polyiomyelitis syndrome].  

PubMed

Postpoliomyelitis syndrome is a clinical syndrome characterized by late progression of symptoms, neuromuscular weakness, fatigue and pain, several (more than 20) Years after acute anterior poliomyelitis. In the United States, where it has been mainly described, frequency is estimated between 20 and 30p.100 in patients with sequelae of poliomyelitis. Although the cause is still unknown, postpoliomyelitis syndrome is likely due to degeneration and dysfunction of terminal axons of enlarged post-polio units, with a possible role of inflammatory reaction driven by persistence of the polio virus. Due to lack of specific therapy, rational therapeutic approaches are symptomatic, including exercise, reassurance and life-strategies for fatigue. PMID:15034482

Clavelou, P

2004-02-01

199

Maroteaux-Lamy syndrome.  

PubMed

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay. PMID:15531839

Lakhotia, Siddharth; Sharma, Alok; Shrivastava, G P; Jain, S K

2004-10-01

200

Anton's Syndrome and Eugenics  

PubMed Central

Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

Frahm-Falkenberg, Siska

2011-01-01

201

Dostoevsky and Stendhal's syndrome.  

PubMed

Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle. PMID:16400436

Amâncio, Edson José

2005-12-01

202

Lance-Adams Syndrome  

PubMed Central

It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program. PMID:22977784

Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun

2012-01-01

203

Gorlin-Goltz syndrome  

PubMed Central

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases. PMID:22363371

Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

2012-01-01

204

Shaken Baby Syndrome  

MedlinePLUS

... and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to ...

205

Carpal Tunnel Syndrome  

MedlinePLUS

... or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your ...

206

Premenstrual Syndrome (PMS)  

MedlinePLUS

... PMS) symptom tracker (PDF, 66 KB) Mental health Menstruation and the menstrual cycle What is premenstrual syndrome ( ... occur 1 to 2 weeks before your period (menstruation or monthly bleeding) starts. The symptoms usually go ...

207

Crigler-Najjar syndrome  

MedlinePLUS

Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. Call your ... Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have ...

208

Cri du chat syndrome  

MedlinePLUS

... of a child with this syndrome should have genetic counseling and testing to determine if one parent has ... child's health care providers after leaving the hospital. Genetic counseling and testing is recommended for all persons with ...

209

The cone dysfunction syndromes  

PubMed Central

The cone dystrophies comprise a heterogeneous group of disorders characterised by visual loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus and photophobia. They may be stationary or progressive. The stationary cone dystrophies are better described as cone dysfunction syndromes since a dystrophy often describes a progressive process. These different syndromes encompass a wide range of clinical and psychophysical findings. The aim is to review current knowledge relating to the cone dysfunction syndromes, with discussion of the various phenotypes, the currently mapped genes, and genotype-phenotype relations. The cone dysfunction syndromes that will be discussed are complete and incomplete achromatopsia, oligocone trichromacy, cone monochromatism, blue cone monochromatism, and Bornholm eye disease. Disorders with a progressive cone dystrophy phenotype will not be discussed. PMID:14736794

Michaelides, M; Hunt, D M; Moore, A T

2004-01-01

210

Uveitis masquerade syndromes  

Microsoft Academic Search

BackgroundIncorrect diagnosis of the uveitic masquerade syndromes (UMS) may have severe consequences. In this study, the frequency, clinical manifestations, and informative diagnostic tests for UMS are described.

Aniki Rothova; Francien Ooijman; Frank Kerkhoff; Allegonda Van der Lelij; Henk M Lokhorst

2001-01-01

211

National Down Syndrome Society  

MedlinePLUS

... story and help ignite a new way of thinking about people with Down syndrome. Read More » Early Intervention The first years of life are a critical time in a child's development. All young children ...

212

Sexuality and Down Syndrome  

MedlinePLUS

... interpersonal relationships and social experiences relating to dating, marriage and the physical aspects of sex. Sex education, ... with Down syndrome often express interest in dating, marriage and parenthood. They can be expected to experience ...

213

Complex Regional Pain Syndrome  

MedlinePLUS

Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

214

Angelman Syndrome Foundation  

MedlinePLUS

... a reason to smile. Get Involved In the News Research Investigates Health Issues in Adults with Angelman ... million in Angelman syndrome research to date. Exciting News about ASF Funded Research Beaudet Research moves closer ...

215

Brown-Sequard Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Brown-Sequard Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

216

Klüver-Bucy Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Klüver-Bucy Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

217

Locked-In Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Locked-In Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

218

Beckwith-Wiedemann syndrome  

MedlinePLUS

... associated with a defect in chromosome number 11. Infancy can be a critical period because of low ... Children with Beckwith-Wiedemann syndrome who survive infancy do ... appears to be normal to very slightly decreased. Swelling of ...

219

Learning about Marfan Syndrome  

MedlinePLUS

... one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once ... with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by ...

220

Loeys-Dietz Syndrome  

MedlinePLUS

... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... how to make proteins, including the proteins in connective tissue. These genes are called transforming growth factor beta- ...

221

Acute Radiation Syndrome  

MedlinePLUS

... Tools CDC Response, Japan 2011 Specific Hazards Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

222

Central Cord Syndrome  

MedlinePLUS

... to those over the age of 50. What research is being done? Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological ...

223

What Causes Rett Syndrome?  

MedlinePLUS

... www.ncbi.nlm.nih.gov/pubmed/15917271 [top] Jacob, F. D., Ramaswamy, V., Andersen, J., & Bolduc, F. V. (2009). Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic ...

224

Patellofemoral Pain Syndrome  

MedlinePLUS

... on nonimpact elliptical trainers, which are popular at gyms. Because these machines support your body weight, they ... What kind of exercise should I do? Bibliography Management of Patellofemoral Pain Syndrome by S Dixit, M.D., ...

225

Restless Legs Syndrome  

MedlinePLUS

Table of Contents (click to jump to sections) What is restless legs syndrome? What are common signs ... also experience a more common condition known as periodic limb movement of sleep (PLMS). PLMS is characterized ...

226

Russell-Silver syndrome  

MedlinePLUS

... be done: Blood sugar (some children may have low blood glucose) Bone age testing (bone age is often younger than the child's actual age) Chromosome testing (may detect a ... rule out other conditions that may mimic Russell-Silver syndrome)

227

Nephrotic Syndrome in Adults  

MedlinePLUS

... syndrome includes the following: proteinuria—large amounts of protein in the urine hyperlipidemia—higher than normal fat ... of albumin in the blood Albumin is a protein that acts like a sponge, drawing extra fluid ...

228

Landau-Kleffner Syndrome  

MedlinePLUS

... Landau-Kleffner Syndrome Information Page Synonym(s): Acquired Epileptiform Aphasia Table of Contents (click to jump to sections) ... characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and ...

229

Fetal Alcohol Syndrome  

MedlinePLUS

... alcohol syndrome. It is the leading cause of mental retardation in the United States. Remember these things No ... have behavior problems. The most serious problem is mental retardation. Causes & Risk Factors Will it hurt my baby ...

230

Fragile X Syndrome Overview  

MedlinePLUS

... can affect: Communication skills Physical appearance Sensitivity to noise, light, or other sensory information Fragile X syndrome ... to Advance Birth Defects Research NICHD Co-Sponsors White House Disability Summit NIH awards $35 Million for ...

231

Guillain-Barre Syndrome  

MedlinePLUS

Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

232

Guillain-Barré Syndrome  

MedlinePLUS

... to their normal lives and activities. What Is Guillain-Barré Syndrome? Experts believe that GBS is an autoimmune ... for foreign material and begins to attack them. Guillain-Barré can affect people of any age, but it ...

233

Carpal Tunnel Syndrome  

MedlinePLUS

... is collecting data about carpal tunnel syndrome among construction apprentices to better understand specific work factors associated ... and develop strategies to prevent its occurrence among construction and other workers. Scientists are also investigating the ...

234

Down Syndrome (For Parents)  

MedlinePLUS

... with Down syndrome. Diagnostic tests include: Chorionic villus sampling (CVS). CVS involves taking a tiny sample of ... as preterm labor and miscarriage. Percutaneous umbilical blood sampling (PUBS). Usually performed after 18 weeks, this test ...

235

Ectopic Cushing syndrome  

MedlinePLUS

... Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 15. Susmeeta TS, Nieman LK. Cushing's syndrome: all variants, detection, and treatment. Endocrinol Metab Clin ...

236

What Causes Cushing's Syndrome?  

MedlinePLUS

... caused by one of several sources: Allergies Asthma Autoimmune (pronounced aw-toh-i-MYOON ) diseases, where the ... syndrome. This progestin medication is taken to treat abnormal menstruation or irregular vaginal bleeding, or to prevent ...

237

Obesity Hypoventilation Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

238

Obesity hypoventilation syndrome (OHS)  

MedlinePLUS

Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... control over breathing and excess weight (due to obesity) against the chest wall. This makes it hard ...

239

Autoimmune lymphoproliferative syndrome.  

PubMed

Autoimmune lymphoproliferative syndrome arises early in childhood in people who inherit mutations in genes that mediate lymphocyte apoptosis, or programmed cell death. In the immune system, antigen-induced lymphocyte apoptosis maintains immune homeostasis by limiting lymphocyte accumulation and minimizing reactions against self-antigens. In autoimmune lymphoproliferative syndrome, defective lymphocyte apoptosis manifests as chronic, nonmalignant adenopathy and splenomegaly; the expansion of an unusual population of CD4-CD8- T cells; and the development of autoimmune disease. Most cases of autoimmune lymphoproliferative syndrome involve heterozygous mutations in the lymphocyte surface protein Fas (CD95, Apo1) that impair a major apoptotic pathway. Prospective evaluations of patients and their families have revealed an ever-expanding spectrum of autoimmune lymphoproliferative syndrome and its major complications. PMID:12819469

Sneller, Michael C; Dale, Janet K; Straus, Stephen E

2003-07-01

240

Neurological paraneoplastic syndromes.  

PubMed Central

Paraneoplastic neurological syndromes are uncommon, however, their diagnosis is of major practical importance. The identification of antibodies in the serum or cerebrospinal fluid in central nervous system paraneoplastic syndromes confirms the clinical diagnosis of a paraneoplastic syndrome and allows early identification of an underlying tumour at a stage when it is localised and more amenable to treatment. The failure to identify antibodies in patients with characteristic presentations of underlying neurological paraneoplastic syndromes does not exclude an underlying cancer. Necrotising myelopathy, dermatomyositis, and chronic inflammatory demyelinating polyneuropathy all occur more frequently than expected in patients with cancer but autoantibodies have not yet been identified. Although significant advances have been made in diagnosis, further research is needed in the detection of autoantibodies and the elucidation of their role in the aetiology of neurological disease. Images PMID:9516876

Nath, U; Grant, R

1997-01-01

241

[Tumor lysis syndrome].  

PubMed

Tumor lysis syndrome is a potentially life threatening oncologic emergency that requires immediate medical intervention. The syndrome results from the destruction (or lysis) of a large number of rapidly dividing malignant cells spontaneously or during chemotherapy. The resulting metabolic abnormalities include hyperkaliemia, hyperuricemia, and hyperphosphatemia with secondary hypocalcemia, all of which put patients at risk for renal failure and alteration in cardiac function. The tumor lysis syndrome occurs most often in patients with large tumor burdens that are very sensitive to chemotherapy and radiotherapy, such as acute or chronic leukaemias with high leukocyte counts and high-grade lymphoma. The current standard management for tumor lysis syndrome consists of allopurinol or recombinant urate oxidase for high risk patient in conjunction with i.v. hydratation with or without alkalinization. PMID:17665670

Jeddi, Ramzi; Ben Abdennebi, Yosr; Allani, Bassam; Belakhal, Raihane; Aissaoui, Lamia; Ben Abid, Hela; Ali, Zaher Belhadj; Meddeb, Balkis

2007-02-01

242

Shaken Baby Syndrome.  

ERIC Educational Resources Information Center

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)

Alexander, Randell C.; Smith, Wilbur L.

1998-01-01

243

Carpal Tunnel Syndrome  

MedlinePLUS

... tunnel syndrome may have trouble typing on the computer or playing a video game. In fact, repetitive ... times as many women as men have CTS. Computer operators, assembly-line workers, and hair stylists are ...

244

Chinese restaurant syndrome  

MedlinePLUS

Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... drug additives. In: Adkinson NF Jr, ed. Middleton’s Allergy: Principles and Practice . 7th ed. Philadelphia, Pa: Mosby ...

245

Cracked Tooth Syndrome  

MedlinePLUS

... your teeth, talk to your dentist about treatment. Grinding can increase your risk of cracked tooth syndrome. ... a plastic bite piece) to prevent you from grinding your teeth. This will relieve the pain from ...

246

Sudden infant death syndrome  

MedlinePLUS

... on Sudden Infant Death Syndrome. SIDS and Other Sleep-Related Infant Deaths: Expansion of Recommendations for a Safe Infant Sleeping Environment. Pediatrics. 2011. 128(5):e1341-e1367. Hauck FR, ...

247

Fragile X Syndrome  

MedlinePLUS

Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

248

[Association of Sjögren's syndrome and Plummer Vinson syndrome].  

PubMed

Dysphagia is a common complaint of patients with Sjogren's syndrome, but its mechanism remains a subject of controversy. The association of Sjogren's syndrome with Plummer-Vinson syndrome remains uncommon. We report a 56-year-old women who presented both disorders. The diagnosis of the Plummer-Vinson syndrome was based on the classic triad of dysphagia, iron-deficiency anaemia and oesophageal webs. The diagnosis of Sjogren's syndrome was based on the presence of three Fox criteria. This association should incite us to search for common immuno-genetic pathogenic factors between these two syndromes. PMID:20554085

Ouakaa-Kchaou, A; Jebali, S; Elloumi, H; Gargouri, D; Kochlef, A; Romani, M; Kilani, A; Kharrat, J; Ghorbel, A

2011-02-01

249

Living with Asperger Syndrome  

Microsoft Academic Search

\\u000a This chapter has two purposes. The first is to explore several issues of importance for families with members diagnosed with\\u000a Asperger Syndrome (AS). The practical advice contained within comes from the experience Sherry Moyer gained in parenting a\\u000a child with AS and in helping others through her position as executive director of the Asperger Syndrome Coalition of the United\\u000a States.

Sherry Moyer; Sheryl Breetz

250

Celiac Artery Compression Syndrome  

PubMed Central

Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy. PMID:23653867

Muqeetadnan, Mohammed; Amer, Syed; Rahman, Ambreen; Nusrat, Salman; Hassan, Syed

2013-01-01

251

Eltrombopag in Good's Syndrome  

PubMed Central

Good's syndrome is a rare acquired immunodeficiency associated with thymoma. Eltrombopag is a thrombopoietin receptor agonist and has been shown to be a valuable supplement to the treatment of several types of refractory cytopenias. In this paper, we describe a male patient suffering from Good's syndrome with immune-mediated T-cell driven pancytopenia and absence of megakaryopoiesis. He was successfully treated with eltrombopag resulting in a multilineage clinical response. PMID:25389501

Heldal, Dag

2014-01-01

252

Dermatoglyphics in turner syndrome  

Microsoft Academic Search

Finger and Palmar dermatoglyphics in 25 karyotypically proven cases of Turner syndrome representing Northwestern region of\\u000a India are presented and compared with those obtained on their 102 normal female counterparts. Predominance of ulnar loops\\u000a over other patterns was recorded in turner patients. Mean total finger ridge count in Turner syndrome (147.4) remained higher\\u000a than the normal females (121.1). c-d interdigital

A. K. Bhalla; A. Sharma; A. Trehan; R. Muralidharan; R. Bagga

2005-01-01

253

Parsonage-Turner Syndrome  

Microsoft Academic Search

Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder\\u000a consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive\\u000a neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is\\u000a reported in various clinical situations, including postoperatively,

Joseph H. Feinberg; Jeffrey Radecki

2010-01-01

254

Parsonage–Turner syndrome  

Microsoft Academic Search

Magnetic resonance imaging is a useful tool in the diagnosis of Parsonage–Turner syndrome. The acute–subacute findings of increased signal intensity primarily within the supraspinatus muscle on fat-saturated proton density and T2-weighted images are characteristic of the syndrome. Chronic findings include focal increased T1 signal within the involved musculature consistent with atrophy. The exclusion of other possible diagnoses such as a

Geoffrey Brett Marshall; Eugene McKenna; Houman Mahallati

2005-01-01

255

Temperament in Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.

2007-01-01

256

Post Vasectomy Pain Syndrome  

Microsoft Academic Search

Although the prevalence of post vasectomy pain syndrome is unknown, it is certain that the incidence of this uncommon complication\\u000a will increase because of the continued popularity of vasectomy as a highly effective and economic means of contraception.\\u000a This chapter covers the evaluation of and treatment options available for the sequelae of symptoms associated with post vasectomy\\u000a pain syndrome and

Jeannette M. Potts

257

MECP2 Duplication Syndrome  

PubMed Central

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome. PMID:22679399

Van Esch, H.

2012-01-01

258

Congenital nephrotic syndrome  

Microsoft Academic Search

Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema\\u000a starting soon after birth. The majority of cases are caused by genetic defects in the components of the glomerular filtration\\u000a barrier, especially nephrin and podocin. CNS may also be a part of a more generalized syndrome or caused by a perinatal infection.\\u000a Immunosuppressive medication

Hannu Jalanko

2009-01-01

259

Hamartomatous polyposis syndromes: A review  

PubMed Central

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

2014-01-01

260

Infections in myelodysplastic syndromes  

PubMed Central

Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes. PMID:22733024

Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

2012-01-01

261

JAMA Patient Page: Guillain-Barré Syndrome  

MedlinePLUS

... of the American Medical Association JAMA PATIENT PAGE Guillain-Barré Syndrome G uillain-Barré syndrome (GBS) is a ... 4 weeks). DIAGNOSIS AND TREATMENT RISK FACTORS FOR GUILLAIN-BARRÉ SYNDROME Symptoms of Guillain-Barré syndrome sometimes require ...

262

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

Introduction The apical ballooning syndrome (ABS) is a single reversible cardiomyopathy often triggered by a stressful event. We aimed to present a case report regarding this disorder. Case presentation Here we present the case of a 77-year-old female hypertensive patient, sedentary and non-smoker, diagnosed with apical ballooning syndrome. We describe the clinical signs and symptoms, changes in markers of myocardial necrosis and changes in the electrocardiogram and coronary angiography. Conclusion The course of events patient showed clinical improvement with treatment and support was not necessary to administer specific medications or interventions to reverse the situation. After hemodynamic stabilization coronary angiography showed no obstructive lesions and left ventricle with akinesia of the apex and the middle portion of the left ventricle. PMID:23597307

2013-01-01

263

[Fetal diagnosis of Edwards syndrome].  

PubMed

Eight cases of Edward's syndrome were found prenatally by cytogenetical analysis of 1680 pregnant women. It has been estimated that after Down's syndrome Edwards's syndrome is the most frequently encountered chromosomal abnormality. This syndrome is associated with high rate of anomalies detectable by ultrasound (e.g. omphalocele, polyhydramnion, growth retardation). Here it is discussed in relation with sonographical findings related to Edwards's syndrome and representing clear indications for chromosomal analysis. The authors call attention to the importance of the diagnosis of Edward's syndrome at each gestational age. PMID:2234934

Tóth, A; Hajdu, K; Intödy, Z; Rajczy, K; László, J

1990-10-28

264

Marfan syndrome: An eyesight of syndrome?  

PubMed Central

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

Kumar, Ashok; Agarwal, Sarita

2014-01-01

265

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

MedlinePLUS

... Marketing Share this: Main Content Area Hyper-Immunoglobulin E Syndrome (HIES) or Job’s Syndrome Folio 46r from ... levels of a type of antibody called immunoglobulin E (IgE), and a tendency to have bone fractures. ...

266

Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

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…

Mason, Linda; Cunningham, Cliff

2009-01-01

267

Genetics Home Reference: Knobloch syndrome  

MedlinePLUS

... feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common ... membranes ; breakdown ; cell ; collagen ; disability ; gene ; inherited ; macula ; myopia ; nearsightedness ; prevalence ; protein ; recessive ; retina ; syndrome ; tissue You ...

268

Families and Fragile X Syndrome  

MedlinePLUS

... to the National Institute of Child Health and Human Development (NICHD) family album about Fragile X syndrome. As ... syndrome? The National Institute of Child Health and Human Development (NICHD) National organizations Additional resources References and Acknowledgements ...

269

Mediterranean Diet and Metabolic Syndrome  

MedlinePLUS

... the lower right-hand corner of the player. Mediterranean Diet and Metabolic Syndrome HealthDay October 15, 2014 ... blood glucose levels. Now, researchers say following the Mediterranean diet may help reverse the syndrome. They included ...

270

Genetics Home Reference: Emanuel syndrome  

MedlinePLUS

... 22. The extra chromosome is known as a derivative 22 or der(22) chromosome. As a result ... supernumerary der(22)t(11;22) syndrome supernumerary derivative 22 chromosome syndrome For more information about naming ...

271

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 ...

272

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 ...

273

Genetics Home Reference: FG syndrome  

MedlinePLUS

... use for FG syndrome? FGS FGS1 Keller syndrome mental retardation, large head, imperforate anus, congenital hypotonia, and partial ... hypertelorism ; hypotonia ; imperforate anus ; inguinal ; inheritance ; inherited ; macrocephaly ; mental retardation ; muscle tone ; mutation ; obstruction ; prevalence ; protein ; recessive ; sex ...

274

Genetics Home Reference: Costello syndrome  

MedlinePLUS

... with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor ... hypertrophic ; hypotonia ; malformation ; muscle tone ; mutation ; prevalence ; protein ; rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell carcinoma ; ...

275

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 ...

276

Genetics Home Reference: Jacobsen syndrome  

MedlinePLUS

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

277

Syndromic Disorders with Short Stature  

PubMed Central

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

??klar, Zeynep; Berbero?lu, Merih

2014-01-01

278

Aicardi-Goutieres Syndrome Disorder  

MedlinePLUS

... is Aicardi-Goutieres Syndrome Disorder? Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants ... about 20 percent of all babies who have AGS. These infants are born with neurological and liver ...

279

Alport's Syndrome in Pregnancy  

PubMed Central

Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy. Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes. PMID:23861686

Mehta, Suchita; Saifan, Chadi; Abdellah, Marie; Choueiry, Rita; Nasr, Rabih; El-Sayegh, Suzanne

2013-01-01

280

Carpal Tunnel Syndrome  

PubMed Central

Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7. PMID:16558255

Zimmerman, Gregory R.

1994-01-01

281

[Sézary's syndrome (author's transl)].  

PubMed

The syndrome described in 1938 by Sézary and Bouvrain is characterized by a possibly hyperpigmented erythroderma with oedema and infiltration of the skin, palmo-plantar keratoderma, diffuse alopecia and large lymphadenopathies. The cutaneous histopathology frequently shows a dermal mononuclear infiltrate with, sometimes, epidermal microabcesses. But none of these signs is actually specific for the Sézary syndrom, the only criteria of which is the presence of circulating Sézary cells with their folded, cerebriform nucleus demonstrated by electron microscopy. The Sezary cell is to date clearly identified as a T lymphocyte but membrane markers and Tcell fonction studies could elicite abnormal and poor reactive T cell. In order to assert the Sézary Syndrome it is stated by the authors that the erythroderma must be associated with more than 10% of Sézary cells in peripheral blood. This feature is needed to differentiate the Sézary syndrome from the erythrodermic form of mycosis fondoïdes in which the abnormal T cell proliferation is mainly located in the skin. The relationship with the T cell chronic lymphatic leukemia and the main treatments of the Sezary syndrome are discussed. PMID:149300

Guilhou, J J; Meynadier, J; Clot, J

1978-01-01

282

[Oto-vertebral syndrome].  

PubMed

The oto-vertebral syndrome is supposed to be caused by an early embryonic exogenous damage which at the same time affects the development of the ear and vertebral column and possibly also causes cardiac anomalies. Animal studies showed that the malformation syndrome originates in the 6th-7th week of embryonic development. The extent of the malformations of the ear and the vertebral column varies. Frequently seen are dysplasia of the external ear and dystopia and atresia of the external ear canal as well as vertebral malformations, mostly involving the thoracic region. Only 4 case reports have been published in the literature. The differential diagnosis includes Goldenhar-syndrome, oculo-vertebral syndrome. Thalidomide-syndrome and chromosomal aberrations. Therapy depends on the extent of the malformations. In case of atresia of the ear canal hearing is first of all improved with a hearing aid, operative procedures are to be planned later on. Child development is promoted with acustic stimulation. PMID:1225802

Böggering, B

1975-10-23

283

Pregnancy and catastrophic antiphospholipid syndrome.  

PubMed

Antiphospholipid syndrome (APS) is clearly related to maternal morbidity. The most characteristic feature is pregnancy loss; however, several other serious complications had been reported including fetal growth restriction, uteroplacental insufficiency, fetal distress, pre-eclampsia, and HELLP syndrome. Herein, we review the different aspects of obstetric APS features, with special emphasis on its life-threatening variant known as catastrophic APS (Asherson's syndrome) and its relationship with a thrombotic microangiopathy such as HELLP syndrome. PMID:19052924

Gómez-Puerta, Jose A; Sanin-Blair, Jose; Galarza-Maldonado, Claudio

2009-06-01

284

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

2010-01-01

285

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

286

Failure Syndrome Students. ERIC Digest.  

ERIC Educational Resources Information Center

Students exhibiting failure syndrome approach assignments with low expectations of success and tend to give up at early signs of difficulty. This Digest delineates the nature of failure syndrome, suggests strategies for coping with failure syndrome students, and discusses how teachers can help. Some students, especially in the early grades, show…

Brophy, Jere

287

Down Syndrome: A Cardiovascular Perspective  

ERIC Educational Resources Information Center

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…

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

288

A Journey with Klinefelter Syndrome  

ERIC Educational Resources Information Center

In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

Cover, Virginia Isaacs

2006-01-01

289

Down Syndrome Myths and Truths  

MedlinePLUS

... unable to form close interpersonal relationships leading to marriage. TRUTH: People with Down syndrome socialize and have meaningful friendships. Some choose to date, form ongoing relationships and marry. MYTH: Down syndrome can never be cured. TRUTH: Research on Down syndrome is ... for Your Family Transition & Beyond Aging Matters Research NDSS en Español ...

290

Autoinflammatory syndromes: diagnosis and management  

Microsoft Academic Search

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

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

2010-01-01

291

Oesophageal atresia and Down syndrome  

Microsoft Academic Search

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our fi nding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher

Sebastiano Bianca; Marco Bianca; Giuseppe Ettore

2002-01-01

292

Pathophysiology of Trousseau's syndrome.  

PubMed

Clinically relevant clotting abnormalities in cancer patients are referred to as Trousseau's syndrome. While thrombotic complications such as venous thromboembolism are most frequent in every day's practice, cancer patients may also experience severe bleeding symptoms due to complex systemic coagulopathies, including disseminated intravascular coagulation, haemolytic thrombotic microangiopathy, and hyperfibrinolysis. The pathophysiology of Trousseau's syndrome involves all aspects of Virchow's triad, but previous basic research has mainly focused on the cellular and molecular mechanisms underlying blood hypercoagulability in solid cancers and haematological malignancies. In this regard, over-expression of tissue factor (TF), the principal initiator of the extrinsic coagulation pathway, by primary tumour cells and increased shedding of TF-bearing plasma microparticles are critical to both thrombus formation and cancer progression. However, novel findings on intrinsic contact activation in vivo, such as the release of polyphosphates or DNA by activated platelets and neutrophils, respectively, have pointed to additional pathways in the complex pathophysiology of Trousseau's syndrome. PMID:25403091

Dicke, C; Langer, F

2015-02-10

293

Lemierre’s syndrome  

PubMed Central

Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome. PMID:24152679

2013-01-01

294

[Globozoospermia syndrome: an update].  

PubMed

Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients. PMID:21351535

Sha, Yan-wei; Song, Yue-qiang; Han, Bin

2011-01-01

295

Muir-torre syndrome.  

PubMed

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

Bhaijee, Feriyl; Brown, Alexandra S

2014-12-01

296

Parsonage-Turner Syndrome  

PubMed Central

Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccination. The identification of the syndrome in the postoperative patient remains a challenge as symptoms may easily be attributed to sequelae of surgical positioning, postoperative recovery, or postanesthetic block pain. The purpose of this review is to bring forth salient, identifiable factors which may assist the surgical clinician in identifying the condition sooner. An early and proper diagnosis affords the opportunity to treat the patient accordingly and to the satisfaction of both surgeon and patient. PMID:21886536

Radecki, Jeffrey

2010-01-01

297

The temporal crescent syndrome.  

PubMed

Retro-chiasmal lesions almost always give rise to homonymous field defects with only one exception. The nasal visual field extends to 60% of the horizon, whereas the temporal field extends to a further 30°-40° beyond that; this part of the visual field is represented on the contralateral anterior parieto-occipital sulcus. A lesion in this area will give rise to monocular visual field defect affecting the contralateral eye. This is called the temporal crescent or the half moon syndrome. In this case report, a woman presented with seizures secondary to haemorrhagic infarction of the anterior part of the parieto-occipital sulcus. She later presented with right-sided visual disturbance; her examination confirmed temporal crescent syndrome. I explain the pathophysiology of this rare neurological syndrome in this report. PMID:25416654

Ali, Khalid

2015-02-01

298

[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].  

PubMed

Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Many clinical and biological criteria leads to the diagnosis of type 2 Griscelli syndrome: consanguineous family, recurrent infection, absence of psychomotor retardation, oculocutaneous albinism, silver hair, occurrence of hemophagocytic syndrome and especially the pathognomonic appearance on microscopic examination of the hair. The absence of giant organelles inclusion in all granulated cells eliminated Chediak-Higashi syndrome. PMID:23906575

Jennane, Selim; El Kababri, Maria; Hessissen, Laila; Kili, Amina; Nachef, Mohamed Nacer; Messaoudi, Nezha; Doghmi, Kamal; Mikdame, Mohamed; El Khorassani, Mohamed; Khattab, Mohamed

2013-01-01

299

Ovarian remnant syndrome.  

PubMed

Twenty-seven patients with ovarian remnant syndrome were operated on by the author in a 7-year period. All patients presented with pelvic pain as their major symptom. A mass was palpable in 20 patients. In 3 patients, no mass was palpable but a lesion was visible on computed tomographic scanning. In 4 patients, there was no palpable mass and scans were negative, yet an ovarian remnant was found at laparotomy. Segmental bowel resection was necessary to obtain clearance in 8 patients, and partial bladder resection was performed in 2. Previous pelvic operations (mean, 4.3) in this group of patients probably contributed to the development of this syndrome. The ovarian remnant syndrome occurs in a patient who has previously had a bilateral salpingo-oophorectomy. A piece of ovarian tissue remains, and this remnant often produces symptoms, usually pelvic pain and associated dyspareunia. Usually the patient has had a hysterectomy as well as bilateral salpingo-oophorectomy, so that the pain is often dismissed as 'not gynaecological' in origin. This syndrome is not synonymous with residual ovary syndrome, in which an ovary that has previously been intentionally conserved either develops an abnormal pathological process or causes symptoms necessitating its surgical removal (6). Unfortunately, awareness of the problems caused by an ovarian remnant is not widespread, and often these patients have been to many gynaecologists, general surgeons, or even psychiatrists in an attempt to get relief from their symptoms. It is not possible to estimate the incidence of symptomatic ovarian remnants, but certainly when an awareness of the syndrome develops, referral of patients with the problem is common. PMID:2631678

Webb, M J

1989-11-01

300

Challenging pain syndromes: Parsonage-Turner syndrome.  

PubMed

Parsonage-Turner syndrome (PTS) is a rare disorder typically characterized by an abrupt onset of upper extremity pain followed by progressive neurologic deficits, including weakness, atrophy, and occasionally sensory abnormalities. The exact cause and pathophysiology of PTS are complex and incompletely understood. Autoimmune, genetic, infectious, and mechanical processes have all been implicated. No specific treatments have been proven to reduce neurologic impairment or improve the prognosis of PTS. Most patients with PTS are treated with a multidisciplinary approach that includes both physical therapy and pharmacologic treatment, often with multiple agents. Further research is needed. PMID:24787332

Smith, Clark C; Bevelaqua, Anna-Christina

2014-05-01

301

Management of Antiphospholipid Syndrome  

PubMed Central

The antiphospholipid syndrome (APS) is an autoimmune disorder presenting with tissue injury in various organs related to large- or small-vessel thrombosis associated with antiphospholipid and antiprotein/phospholipid complex antibodies. Although the pathophysiology, diagnosis, and clinical scenario may seem clear and straightforward, a more detailed examination reveals a more complex and uncertain picture related to the management of APS. This article reviews the current situation relating to APS therapy by evaluating the different clinical features of the syndrome ranging from thrombosis to pregnancy complications together with new strategies and pharmacological approaches. PMID:22870449

Del Papa, Nicoletta; Vaso, Nikoleta

2010-01-01

302

Understanding Thoracic Outlet Syndrome  

PubMed Central

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

Freischlag, Julie

2014-01-01

303

Plummer-Vinson syndrome.  

PubMed

Plummer-Vinson syndrome is characterized by dysphagia, iron deficiency, anemia and the presence of esophageal web or webs. Two cases of this syndrome are reported in middle-aged women, which were treated over the last eight years. Both patients presented with dysphagia, anemia, sideropenia, glossitis and cheilitis. Radiological examination of the pharynx showed the presence of webs in both cases. The patients were treated with iron supplementation, which resulted in elimination of the symptoms. Both patients remain in good general condition and without any dysphagic complaints, 5 and 8 years after the diagnosis, respectively. PMID:12823219

Atmatzidis, K; Papaziogas, B; Pavlidis, T; Mirelis, Ch; Papaziogas, T

2003-01-01

304

Treacher Collins Syndrome  

PubMed Central

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

Chang, Christopher C.; Steinbacher, Derek M.

2012-01-01

305

Understanding thoracic outlet syndrome.  

PubMed

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

Freischlag, Julie; Orion, Kristine

2014-01-01

306

Spontaneous Thigh Compartment Syndrome  

PubMed Central

A young man presented with a painful and swollen thigh, without any history of trauma, illness, coagulopathic medication or recent exertional exercise. Preliminary imaging delineated a haematoma in the anterior thigh, without any fractures or muscle trauma. Emergent fasciotomies were performed. No pathology could be identified intra-operatively, or on follow-up imaging. A review of thigh compartment syndromes described in literature is presented in a table. Emergency physicians and traumatologists should be cognisant of spontaneous atraumatic presentations of thigh compartment syndrome, to ensure prompt referral and definitive management of this limb-threatening condition. PMID:21691491

Khan, Sameer K.; Thati, Srinivas; Gozzard, Charles

2011-01-01

307

Antiphospholipid syndrome: an overview.  

PubMed

Antiphospholipid antibodies are a heterogeneous group of autoantibodies that are detected by immunoassays and functional coagulation tests. The antigenic targets are negatively charged phospholipids and serum phospholipid-binding proteins. The latter antibodies are frequently associated with thrombosis, fetal loss and other clinical manifestations of the antiphospholipid syndrome. These antibodies are felt to be etiologically important in the syndrome, although the precise pathogenic mechanisms are still being determined. Proposed mechanisms include antibody-mediated interference with coagulation homeostasis, activation of platelets and endothelial cells and a T-cell immune response to serum phospholipid-binding proteins. The mainstay of therapy is anticoagulation, whereas immunosuppression is ineffective. PMID:12821621

Hanly, John G

2003-06-24

308

The slipping rib syndrome.  

PubMed

The slipping rib syndrome is a cause of upper abdominal pain that is not widely known, possibly because of failure of recognition rather than infrequent occurrence. The syndrome should be suspected when pain can be reproduced by a rib-hooking maneuver. However, a thorough evaluation including intercostal nerve blocks is necessary both to eliminate coexistent gastrointestinal and psychiatric disorders as a cause of pain and to assure adequate treatment and a good prognosis. Patients with obvious slipping ribs appear to benefit from surgical excision. PMID:6639342

Spence, E K; Rosato, E F

1983-11-01

309

The telomere syndromes  

PubMed Central

There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes. PMID:22965356

Armanios, Mary; Blackburn, Elizabeth H.

2013-01-01

310

Van der Woude syndrome- a syndromic form of orofacial clefting  

PubMed Central

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting. PMID:24558537

Sudhakara Reddy, R.; Ramesh, T.; Lavanya Reddy, R.; Swapna, L A.; Rajesh Singh, T.

2012-01-01

311

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

ERIC Educational Resources Information Center

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,…

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

2000-01-01

312

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

Microsoft Academic Search

Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five experiments assessed number skills in these two genetic syndromes and in their mental age (MA)

Sarah J. Paterson; Luisa Girelli; Brian Butterworth; Annette Karmiloff-Smith

2006-01-01

313

[Acute colonic pseudoobstruction: Ogilvie's syndrome].  

PubMed

Based on literature and own original clinical data authors conclude that Ogilvie's syndrome is the form of dynamic obstruction of colon due to lesion of retroperitoneal neural nodes, heart failure and intoxication. Ogilvie's syndrome complicates therapeutic and surgical diseases. This syndrome can be manifested with acute abdomen symptoms and at 22% cases may be the cause of surgical treatment. Ogilvie's syndrome is successfully treated with evacuation of intestinal contents, but the risk of recurrence after this treatment is high. Ethiotropic therapy, correction of water-electrolytic balance and tissues oxygenation, administration of acetylcholinesterase inhibitors are the more effective treatment of this syndrome. PMID:17690630

Trenin, S O; Shishkov, A V; Maslennikov, V A; Keropian, O K

2007-01-01

314

Drug-Induced Hematologic Syndromes  

PubMed Central

Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications. PMID:19960059

Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren

2009-01-01

315

Currarino syndrome and spinal dysraphism.  

PubMed

Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele. PMID:24745342

Kole, Matthew J; Fridley, Jared S; Jea, Andrew; Bollo, Robert J

2014-06-01

316

Rothmund-Thomson syndrome  

Microsoft Academic Search

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

Lidia Larizza; Gaia Roversi; Ludovica Volpi

2010-01-01

317

Sudden Infant Death Syndrome.  

ERIC Educational Resources Information Center

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…

Barnett, Henry L.; And Others

318

Amniotic band syndrome.  

PubMed

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

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

2013-10-01

319

Burning Mouth Syndrome  

MedlinePLUS

... problem) ? Allergies to dental products, dental materials (usually metals), or foods ? Dry mouth, which can be caused by certain disorders (such as Sjögren’s syndrome) and treatments (such as certain drugs and radiation therapy) ? Certain medicines, such as those that reduce blood pressure ? Nutritional ...

320

Eyes in arhinencephalic syndromes.  

PubMed Central

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

Karseras, A G; Laurence, K M

1975-01-01

321

Munchausen’s Syndrome  

PubMed Central

Although the differential diagnosis of hemoptysis is extensive, consideration of a factitious cause is rarely contemplated. Factitious hemoptysis is uncommon in children. We report a dramatic case of factitious hemoptysis in a 12-year-old girl. The features of Munchausen’s syndrome are also reviewed.

Alt?nkaynak, Sevin; Ertekin, Vildan; Alp, Handan; Fidan, Tülin

2009-01-01

322

Revisiting plummer vinson syndrome.  

PubMed

Plummer Vinson syndrome is a rare association of postcricoid dysphagia, upper esophageal webs, and iron deficiency anemia. Iron deficiency state has been hypothesized to play an etiological role. While literature review elucidates the resolution of dysphagia in most cases with iron therapy, we discuss our case where the dysphagia was resistant to such therapy and necessitated a mechanical dilatation. PMID:23634346

Gude, D; Bansal, Dp; Malu, A

2013-01-01

323

Revisiting Plummer Vinson Syndrome  

PubMed Central

Plummer Vinson syndrome is a rare association of postcricoid dysphagia, upper esophageal webs, and iron deficiency anemia. Iron deficiency state has been hypothesized to play an etiological role. While literature review elucidates the resolution of dysphagia in most cases with iron therapy, we discuss our case where the dysphagia was resistant to such therapy and necessitated a mechanical dilatation. PMID:23634346

Gude, D; Bansal, DP; Malu, A

2013-01-01

324

Tourette Syndrome: Classroom Implications  

ERIC Educational Resources Information Center

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…

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

2011-01-01

325

Modelling Down Syndrome  

ERIC Educational Resources Information Center

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…

Buckley, Frank

2008-01-01

326

[Prader-Willi syndrome].  

PubMed

Prader-Willi syndrome is a rare genetic disease that affects neurodevelopment in children. It is characterised by major behavioural problems and morbid obesity. Early diagnosis and growth hormone treatment can bring out considerable improvements. However, the outlook for adults remains problematic. PMID:24228330

Sarda, Pierre

2013-01-01

327

Learning about WAGR Syndrome  

MedlinePLUS

... who have WAGR syndrome develop a type of kidney cancer called Wilms' tumor. In the early stages of Wilms' tumor there ... and is related to the features of the tumor, and the stage of the disease. Treatment ... radiation therapy and chemotherapy. Aniridia : The treatment of ...

328

The empty follicle syndrome.  

PubMed

The empty follicle syndrome (EFS) is a rare complication of in vitro fertilization (IVF) treatment, leading to cycle cancellation. Low human chorionic gonadotropin (hCG) bioavailability and ovarian dysfunction have been implicated with this condition. This case report illustrates a typical case of EFS and several strategies suggested to overcome this problem. PMID:17243533

Ng, S P; Jamil, M A; Nurshaireen, A; Zainul, M R

2006-10-01

329

What Is Sjögren's Syndrome?  

MedlinePLUS

... publication. To order the Sjögren's Syndrome Q&A full-text version, please contact NIAMS using the contact information ... mailed to you? Visit our online order form. Full NIAMS Site NIH… Turning Discovery Into Health ® ... Comments Moderation Policy Site Map | Viewers and Players

330

Paraneoplastic neurological syndromes  

PubMed Central

Purpose of review This review describes relevant advances in paraneoplastic neurological syndromes (PNS) with emphasis on particular syndromes and the impact of antibodies against surface antigens in their management. Recent findings PNS may present with symptoms that do not raise the suspicion of a paraneoplastic origin. The best example is anti-N-methyl-D-aspartate receptor encephalitis that in adult women frequently associates with ovarian teratoma. An electroencephalogram pattern described as ‘extreme delta brush’ was recently identified in 30% of patients with this disorder. Isolated myelopathy may have a paraneoplastic origin associated with amphiphysin or CV2 (CRMP5) antibodies. Jaw dystonia and laryngospasm can be the predominant symptom of the brainstem encephalitis associated with Ri antibodies. ?-Aminobutyric acid (GABA)B receptor antibodies are the most common antibodies found in patients with limbic encephalitis and small cell lung cancer, and contactin-associated protein 2 antibodies in patients with Morvan’s syndrome and thymoma. Lastly, a recent study identified delta/notch-like epidermal growth factor-related receptor (DNER) as the target antigen of Tr antibodies, a marker of cerebellar ataxia and Hodgkin’s lymphoma. Summary The number of antibodies relevant to PNS is now expanded to those against surface antigens. These antibodies do not confirm the paraneoplastic origin of the syndrome but predict a better response to immunotherapy. PMID:23041955

Graus, Francesc; Dalmau, Josep

2013-01-01

331

Complex Regional Pain Syndrome  

MedlinePLUS

... pain reliever) into certain nerves to block the pain signals. If the injection works, it may be repeated. Physical therapy and psychological counseling are also helpful. However, a treatment that works for ... pain syndrome from getting worse. Sometimes the condition improves. ...

332

Turner Syndrome in Adulthood  

Microsoft Academic Search

Turner syndrome is a common genetic disorder associated with abnormalities of the X chromosome and occurs in about 50 per 100,000 liveborn girls. It is associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids and infertility. Morbidity and mortality are increased throughout the lifespan. The average intellectual performance is within the normal range.

Claus Højbjerg Gravholt; D. B. DUNGER; G. S. CONWAY; J. A. H. WASS

2005-01-01

333

Turner Syndrome 2008  

Microsoft Academic Search

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

Carolyn A. Bondy

2009-01-01

334

Parsonage-Turner syndrome  

Microsoft Academic Search

Keywords Disease name and synonyms Excluded diseases Diagnosis criteria \\/ definition Differential diagnosis Frequency Clinical description Management and treatment Etiology Abstract Parsonage-Turner is a clinically defined syndrome that is easily confused with other neck and upper extremity abnormalities. Affected patients present with a characteristic pattern of sudden and acute pain across the top of the shoulder, lasting a few hours

Alexis Brice; Paul Castaigne

2004-01-01

335

Partial XYY syndrome  

Microsoft Academic Search

A 13-year-old boy with 47 chromosomes, an extra small metacentric chromosome and karyotype 47,XY,?Yq- is presented. He has psychiatric symptoms typical of boys with karyotype 47,XYY as seen in the tabulated results of a psychiatric study of 22 boys with the XYY syndrome, examined at the Cytogenetic Laboratory, Århus State Hospital, Risskov.

Kirsten Riber Christensen; Johannes Nielsen

1971-01-01

336

Classical Sweet's syndrome  

PubMed Central

A 38-year - old female came to us with sudden eruptions of painful edematous lesions which appeared pseudovesicular on cutaneous examination. Histopathology supported the diagnosis of sweet's syndrome and she responded to a combination of dapsone and oral steroids, after having relapsed on self-discontinuation of monotherapy with dapsone. PMID:24616879

Jindal, Saurabh R.; Kura, Mahendra M.

2014-01-01

337

The Schnitzler syndrome  

PubMed Central

The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corresponding from the clinico-pathological viewpoint to a neutrophilic urticarial dermatosis, a monoclonal IgM component and at least 2 of the following signs: fever, joint and/or bone pain, enlarged lymph nodes, spleen and/or liver, increased ESR, increased neutrophil count, abnormal bone imaging findings. It is a chronic disease with only one known case of spontaneous remission. Except of the severe alteration of quality of life related mainly to the rash, fever and pain, complications include severe inflammatory anemia and AA amyloidosis. About 20% of patients will develop a lymphoproliferative disorder, mainly Waldenström disease and lymphoma, a percentage close to other patients with IgM MGUS. It was exceedingly difficult to treat patients with this syndrome until the IL-1 receptor antagonist anakinra became available. Anakinra allows a complete control of all signs within hours after the first injection, but patients need continuous treatment with daily injections. In many aspects, the Schnitzler syndrome resembles the genetically determined auto-inflammatory syndromes involving activating mutations of the NLRP3 inflammasome. This latter point and its consequences will be addressed. PMID:21143856

2010-01-01

338

Hereditary Renal Cancer Syndromes  

PubMed Central

Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of renal cancer, which are reviewed herein. Clear cell renal cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome and mutations in BAP1, as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary renal cancers arise in conjunction with germline mutations in MET and type 2 as part of Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations). Chromophone and oncocytic renal cancers are predominantly associated with Birt Hogg Dubé syndrome. Angiomyolipomas are commonly and their malignant counterpart epitheliod angiomyolipomas rarely are found in patients with Tuberous Sclerosis Complex. The targeted therapeutic options for the renal cancer associated with these diseases are just starting to expand, and are an area of active clinical research. PMID:24359990

Haas, Naomi B.

2013-01-01

339

Guillain-Barré syndrome  

Microsoft Academic Search

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

Udaya Seneviratne

2000-01-01

340

The antiphospholipid antibody syndrome  

Microsoft Academic Search

The antiphospholipid antibody syndrome (APS) is the association of certain clinical features with the presence of antiphospholipid antibodies (APA) in the serum or plasma of affected individuals. APS may be primary or secondary to another disease, typically autoimmune diseases such as systemic lupus erythematosus (SLE).The prototypic clinical features are thrombotic events (venous and arterial) and pregnancy morbidity (recurrent fetal loss,

Michael C Nimmo; Cedric J Carter

2003-01-01

341

Rabson-Mendenhall Syndrome  

PubMed Central

Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans. PMID:25484423

Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

2014-01-01

342

Syndrome In Question*  

PubMed Central

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

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

2014-01-01

343

Fibromyalgia syndrome in men  

Microsoft Academic Search

Objective: Fibromyalgia syndrome (FMS) is uncommon in men and data on its characteristics and severity are limited. The current study was undertaken to determine whether the clinical characteristics and the spectrum of this disorder are similar in men and women. Methods: Forty men with FMS were matched with 40 women by age and educational level. All subjects were asked about

Dan Buskila; Lily Neumann; Ali Alhoashle; Mahmoud Abu-Shakra

2000-01-01

344

[Familial Wolfram syndrome].  

PubMed

Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. PMID:25282462

Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

2014-11-01

345

Charles Bonnet Syndrome  

MedlinePLUS

... is also true for those with Charles Bonnet syndrome. After a year or perhaps 18 months, the brain seems to adjust to the person's vision loss, and the hallucinations begin to recede. In the meantime, of course, the underlying visual impairment should be treated or monitored. Idle time ...

346

Syndrome In Question*  

PubMed Central

Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma. PMID:24626672

Lavorato, Fernanda Guedes; Marcela Duarte Benez, Miller; Obadia, Daniel Lago; Nery, Natália Solon; da Silva, Roberto Souto

2014-01-01

347

Prune belly syndrome.  

PubMed

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies. PMID:22606508

Tagore, Koyye Ravindranath; Ramineni, Asok Kumar S; Vijaya Lakshmi, A R; N, Bhavani

2011-01-01

348

Prune Belly Syndrome  

PubMed Central

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies. PMID:22606508

Tagore, Koyye Ravindranath; Ramineni, Asok Kumar S.; Vijaya Lakshmi, A. R.; N., Bhavani

2011-01-01

349

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)  

Microsoft Academic Search

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a rare, congenital, neurocutaneous disorder. It is characterized\\u000a by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations.\\u000a Mental retardation and epilepsy may compromise the clinical status.

Sergiusz Jó?wiak; Ignacio Pascual-Castroviejo

350

THE VON NEUMANN SYNDROME  

Microsoft Academic Search

Because of high energy consumption our computer-based infrastructure may become unafiordable - without reinvent- ing the entire computing discipline, also due to cope with the manycore programming crisis. The paper highlights facts, trends, and a roadmap to by-pass this crisis and to reach new horizons. The term von Neumann syndrome has been coined by C. V. Ramamoorthy in reply to

Reiner Hartenstein

2010-01-01

351

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

E-print Network

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

Butterworth, Brian

352

A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome.  

PubMed

A 14-month-old boy with overlapping features of Townes-Brocks syndrome (TBS) and single median maxillary incisor syndrome (SMMCIS) is being reported with brief review of the above syndromes and possible differential diagnosis. PMID:23716951

Babu, Thirunavukkarasu Arun; Chandrasekaran, Venkatesh; Balachandran, Sathish

2012-09-01

353

A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome  

PubMed Central

A 14-month-old boy with overlapping features of Townes-Brocks syndrome (TBS) and single median maxillary incisor syndrome (SMMCIS) is being reported with brief review of the above syndromes and possible differential diagnosis. PMID:23716951

Babu, Thirunavukkarasu Arun; Chandrasekaran, Venkatesh; Balachandran, Sathish

2012-01-01

354

Hughes syndrome (the antiphospholipid syndrome): 25 years old  

Microsoft Academic Search

The antiphospholipid (Hughes) syndrome (APS) is a unique thrombotic disorder, causing both arterial and venous thrombosis,\\u000a linked to the presence of antibodies directed against phospholipid–protein complexes. The first papers describing the syndrome\\u000a were published in 1983 and, over the next two years, a series of publications described in detail the various clinical manifestations\\u000a of the syndrome. Laboratory standardisation workshops were

C. J. Edwards; G. R. V. Hughes

2008-01-01

355

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

PubMed Central

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

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

2014-01-01

356

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.  

PubMed

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS phenotype. Virtually no information is available on the behavioral and psychopathological phenotype in this combination. The latter may be explained by the observation that psychiatric syndromes are especially prevalent in PWS patients with a UPD. It is concluded that instability in mood and behavior in this and other syndromes should be preferentially treated with mood stabilizing agents. PMID:17657135

Verhoeven, W M A; de Vries, B B A; Duffels, S J H; Egger, J I M; Noordam, C; Tuinier, S

2007-01-01

357

Klinefelter syndrome in clinical practice.  

PubMed

Klinefelter syndrome is the most common sex-chromosome disorder; it affects approximately one in every 660 men. This syndrome is characterized by the presence of one or more extra X chromosomes, and the karyotype 47,XXY is the most prevalent type. The 'prototypic' man with Klinefelter syndrome has traditionally been described as tall, with narrow shoulders, broad hips, sparse body hair, gynecomastia, small testicles, androgen deficiency, azoospermia and decreased verbal intelligence. A less distinct phenotype has, however, been described. Klinefelter syndrome is an underdiagnosed condition; only 25% of the expected number of patients are diagnosed, and of these only a minority are diagnosed before puberty. Patients with Klinefelter syndrome should be treated with lifelong testosterone supplementation that begins at puberty, to secure proper masculine development of sexual characteristics, muscle bulk and bone structure, and to prevent the long-term deleterious consequences of hypogonadism; however, the optimal testosterone regimen for patients with Klinefelter syndrome remains to be established. PMID:17415352

Bojesen, Anders; Gravholt, Claus H

2007-04-01

358

Nijmegen breakage syndrome (NBS)  

PubMed Central

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

2012-01-01

359

Cushing Syndrome in Pediatrics  

PubMed Central

Corticotropin (ACTH)-releasing hormone (CRH) is synthesized in the hypothalamus and carried to the anterior pituitary in the portal system. CRH stimulates ACTH release from the anterior pituitary, which in turn stimulates the adrenal cortex to secrete cortisol (hypothalamic-pituitary-adrenal or HPA axis).1–4 Cortisol inhibits the synthesis and secretion of both CRH and ACTH in a negative feedback regulation system. In Cushing syndrome, the HPA axis has lost its ability for self-regulation, due to excessive secretion of either ACTH or cortisol and the loss of the negative feedback function. Diagnostic tests, on the other hand, take advantage of the tight regulation of the HPA axis in the normal state and its disturbance in Cushing syndrome to guide therapy toward the primary cause of this disorder. PMID:23099271

Stratakis, Constantine A.

2013-01-01

360

Polycystic ovarian syndrome.  

PubMed

Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examination with hematological and radiological investigations is required for clinical evaluation. Management is a combined effort involving a dermatologist, endocrinologist, gynecologist, and nutritionist. Morbidity in addition includes a low "self image" and poor quality of life. Long term medications and lifestyle changes are essential for a successful outcome. This article focuses on understanding the normal and abnormal endocrine functions involved in the pathogenesis of PCOS. Proper diagnosis and management of the patient is discussed. PMID:23619436

Madnani, Nina; Khan, Kaleem; Chauhan, Phulrenu; Parmar, Girish

2013-01-01

361

Microdeletion and Microduplication Syndromes  

PubMed Central

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. PMID:22396478

Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena, Juan C.; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas

2012-01-01

362

Second Impact Syndrome  

PubMed Central

A controversial term first described by Saunders and Harbaugh1 in 1984, Second Impact Syndrome (SIS) consists of two events. Typically, it involves an athlete suffering post-concussive symptoms following a head injury.2 If, within several weeks, the athlete returns to play and sustains a second head injury, diffuse cerebral swelling, brain herniation, and death can occur. SIS can occur with any two events involving head trauma. While rare, it is devastating in that young, healthy patients may die within a few minutes. Emergency physicians should be aware of this syndrome and counsel patients and their parents concerning when to allow an athlete to return to play. Furthermore, we present guidelines for appropriate follow up and evaluation by a specialist when necessary. PMID:19561758

Bey, Tareg; Ostick, Brian

2009-01-01

363

Ovarian remnant syndrome.  

PubMed

Ten patients with "definite" and three patients with "probable" ovarian remnant syndrome are reviewed to emphasize the difficulties in diagnosis and treatment of this clinical problem. Physical examination, clinical history, and follicle-stimulating hormone (FSH) levels were sufficient for diagnosis in most cases. Intravenous pyelography documented ureteral obstruction in two cases. Exogenous estrogen and progestin hormones did not control symptoms. Surgical removal ultimately achieved symptom relief for all women in whom pain was well localized to the remnant, although two patients required two attempts at excision before they were cured. Three patients with more diffuse pain and "probable" ovarian remnants were managed medically. Ovarian remnant syndrome is probably more prevalent than is generally appreciated. PMID:3110713

Steege, J F

1987-07-01

364

[Secondary myelodysplastic syndrome].  

PubMed

Secondary or therapy related myelodysplastic syndrome may develop following treatment with alkylating agents and radiotherapy. The condition may also follow high dose therapy for malignant lymphomas. We describe two patients who developed secondary myelodysplasia. The first is a 76-year old female with a low grade lymphoma who developed pancytopenia with monosomy 7. Secondary myelodysplasia was diagnosed 24 months after treatment with chlorambucil (total dose of 900 mg) and 12 months after treatment with trophosphamide (total dose of 24 g). The second patient was a 48-year old male who underwent autologous bone marrow transplantation for a relapsed low grade lymphoma. Following autografting he had persistent anemia and trombocytopenia. Secondary myelodysplastic syndrome with complex karyotype was diagnosed 54 months after high dose therapy. He died nine months later of bone marrow failure. PMID:9441464

Shammas, F V; Heikkilä, R

1997-11-30

365

Piriformis muscle syndrome.  

PubMed

Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms. PMID:17385355

Kuncewicz, Elzbieta; Gajewska, Ewa; Sobieska, Magdalena; Samborski, W?odzimierz

2006-01-01

366

Delleman Oorthuys Syndrome  

PubMed Central

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

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

2015-01-01

367

Obstetric antiphospholipid syndrome.  

PubMed

Antiphospholipid syndrome (APS) in pregnancy has a serious impact on maternal and fetal morbidity. It causes recurrent pregnancy miscarriage and it is associated with other adverse obstetric findings like preterm delivery, intrauterine growth restriction, preeclampsia, HELLP syndrome and others. The 2006 revised criteria, which is still valid, is used for APS classification. Epidemiology of obstetric APS varies from one population group to another largely due to different inclusion criteria and lack of standardization of antibody detection methods. Treatment is still controversial. This topic should include a multidisciplinary team and should be individualized. Success here is based on strict control and monitoring throughout pregnancy and even in the preconception and postpartum periods. Further research in this field and unification of criteria are required to yield better therapeutic strategies in the future. PMID:22001418

Galarza-Maldonado, Claudio; Kourilovitch, Maria R; Pérez-Fernández, Oscar M; Gaybor, Mariana; Cordero, Christian; Cabrera, Sonia; Soroka, Nikolai F

2012-02-01

368

[POPP syndrome: Psoriatic onychopachydermoperiostitis].  

PubMed

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

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

2013-01-01

369

Juvenile polyposis syndrome  

PubMed Central

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

Cichy, Wojciech; Klincewicz, Beata

2014-01-01

370

[Pendred's syndrome. Current features].  

PubMed

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

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

2001-11-17

371

Thalidomide in Treating Patients With Myelodysplastic Syndrome  

ClinicalTrials.gov

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

2013-01-23

372

Genetics Home Reference: Lymphedema-distichiasis syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Lymphedema-distichiasis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed February 2014 What is lymphedema-distichiasis syndrome? Lymphedema-distichiasis syndrome is a condition ...

373

Genetics Home Reference: Townes-Brocks Syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Townes-Brocks Syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed October 2007 What is Townes-Brocks Syndrome? Townes-Brocks syndrome is a genetic condition ...

374

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 ...

375

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 ...

376

Genetics Home Reference: Floating-Harbor syndrome  

MedlinePLUS

... syndrome? Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed ... deficiency ; disability ; gene ; inherited ; motor ; mutation ; philtrum ; protein ; short stature ; stature ; syndrome ; testes You may find definitions for ...

377

Genetics Home Reference: Snyder-Robinson syndrome  

MedlinePLUS

... names do people use for Snyder-Robinson syndrome? mental retardation, X-linked, syndromic, Snyder-Robinson type Snyder-Robinson X-linked mental retardation syndrome spermine synthase deficiency SRS For more information ...

378

Genetics Home Reference: Shprintzen-Goldberg syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Shprintzen-Goldberg syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed February 2013 What is Shprintzen-Goldberg syndrome? Shprintzen-Goldberg syndrome is a disorder that ...

379

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 ...

380

Genetics Home Reference: PPM-X syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > PPM-X syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed October 2011 What is PPM-X syndrome? PPM-X syndrome is a condition characterized ...

381

[Pregnancy and antiphospholipid syndrome].  

PubMed

Antiphospholipid syndrome (APS) is associated with a risk of obstetrical complications, affecting both the mother and the fetus. Obstetrical APS is defined by a history of three consecutive spontaneous miscarriages before 10 weeks of gestation (WG), an intra-uterine fetal death after 10 WG, or a premature birth before 34 WG because of severe pre-eclampsia, eclampsia or placental adverse outcomes (intrauterine growth retardation, oligohydramnios). Pregnancy in women with a diagnosis of obstetric APS is at increased risk for placental abruption, HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome and thrombosis that may be part of a catastrophic antiphospholipid syndrome (CAPS). A previous thrombosis and the presence of a lupus anticoagulant are risk factors for pregnancy failure. A multidisciplinary approach, associating the internist, the anesthesiologist and the obstetrician, is recommended for these high-risk pregnancies. Preconception counseling is proposed to identify pregnancy contraindications, and to define and adapt the treatment prior and during the upcoming pregnancy. Heparin and low-dose aspirin are the main treatments. The choice between therapeutic or prophylactic doses of heparin will depend on the patient's medical history. The anticoagulant therapeutic window for delivery should be as narrow as possible and adapted to maternal thrombotic risk. There is a persistent maternal risk in the postpartum period (thrombosis, HELLP syndrome, CAPS) justifying an antithrombotic coverage during this period. We suggest a monthly clinical and biological monitoring which can be more frequent towards the end of pregnancy. The persistence of notches at the Doppler-ultrasound evaluation seems to be the best predictor for a higher risk of placental vascular complications. Treatment optimization and multidisciplinary antenatal care improve the prognosis of pregnancies in women with obstetric APS, leading to a favorable outcome most of the time. PMID:22341691

Costedoat-Chalumeau, N; Guettrot-Imbert, G; Leguern, V; Leroux, G; Le Thi Huong, D; Wechsler, B; Morel, N; Vauthier-Brouzes, D; Dommergues, M; Cornet, A; Aumaître, O; Pourrat, O; Piette, J-C; Nizard, J

2012-04-01

382

“Secondary” Polycystic Ovary Syndrome  

Microsoft Academic Search

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

Gregory Kaltsas; George Chrousos

383

Polycystic Ovary Syndrome  

Microsoft Academic Search

Polycystic Ovary Syndrome (PCOS) is the one of the common cause of menstrual irregularity in the United States and a leading\\u000a cause of infertility. PCOS prevalence ranges from 6 to 10% in the United States. Because obesity may unmask PCOS, the incidence\\u000a may increase as obesity rates increase. PCOS has been viewed as a collection of reproductive disorders, including polycystic

Katherine Sherif

384

Polycystic Ovary Syndrome  

Microsoft Academic Search

Polycystic ovary syndrome (PCOS) is a common but poorly understood endocrinopathy diagnosed by the combination of oligomenorrhea,\\u000a hyperandrogenism, and polycystic ovaries. Many of the women with PCOS are also uniquely and variably insulin-resistant. This\\u000a can manifest as hyperinsulinemia, glucose intolerance, and frank diabetes. Affected women are plagued by infertility, menstrual\\u000a disorders, dysfunctional uterine bleeding, and peripheral skin disorders including acne

Romana Dmitrovic; Richard S. Legro

385

The silent sinus syndrome  

PubMed Central

The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Obstruction of the maxillary ostium appears to play a critical role in the development of SSS. Treatment involves functional endoscopic surgery. PMID:23946747

Sheikhi, Mahnaz; Jalalian, Faranak

2013-01-01

386

Burning Mouth Syndrome  

PubMed Central

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

Mock, David; Chugh, Deepika

2010-01-01

387

Reversible posterior leukoencephalopathy syndrome  

Microsoft Academic Search

Reversible posterior leukoencephalopathy syndrome (RPLS) is characterized by subacute onset of headache, decreased alertness,\\u000a vomiting, seizures, visuoperceptual disturbances, together with bilateral white matter lesions in posterior brain regions\\u000a on brain imaging. The most frequently associated conditions related to RPLS are arterial hypertension and the use of immunosuppressive\\u000a or cytotoxic treatment. T2-, Fluid Attenuation Inversion Recovery (FLAIR), and Apparent Diffusion Coefficient

Dimitri Renard; Pierre Labauge; Rik Vandenberghe

2010-01-01

388

Spontaneous ovarian hyperstimulation syndrome.  

PubMed

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

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

2013-06-01

389

The Antiphospholipid Syndrome  

Microsoft Academic Search

\\u000a The antiphospholipid syndrome (APS) is a multi-system autoimmune disorder characterized by recurrent arterial and venous thromboses\\u000a and pregnancy morbidity (Hughes 1983). The most common clinical manifestations of the APS are shown in Table 16.1. Cutaneous\\u000a manifestations of the APS include livedo reticularis (livedo racemosa), leg ulcers, skin necrosis, superficial thrombophlebitis,\\u000a splinter hemorrhages, digital ischemia, and gangrene. Many of these features

David P. D'Cruz; Munther Khamashta

390

Cockayne's syndrome: case report  

PubMed Central

The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis. Images PMID:4999043

Crome, L.; Kanjilal, G. C.

1971-01-01

391

Hughes-Stovin Syndrome  

Microsoft Academic Search

Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and\\/or\\u000a bronchial aneurysms. Less than 40 published cases of HSS have been described in English medical literature so far. The exact\\u000a etiology and pathogenesis of HSS is unknown; possible causes include infections and angiodysplasia. HSS has also been considered\\u000a as a variant of Behcet's disease

Umair Khalid; Taimur Saleem

2011-01-01

392

Large offspring syndrome  

PubMed Central

Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive technologies (ART) appear to have an increased incidence of BWS. As in humans, ART can also induce a similar overgrowth syndrome in ruminants which is referred to as large offspring syndrome (LOS). The main goal of our study is to determine if LOS shows similar loss-of-imprinting at loci known to be misregulated in BWS. To test this, Bos taurus indicus × Bos taurus taurus F1 hybrids were generated by artificial insemination (AI; control) or by ART. Seven of the 27 conceptuses in the ART group were in the > 97th percentile body weight when compared with controls. Further, other characteristics reported in BWS were observed in the ART group, such as large tongue, umbilical hernia, and ear malformations. KCNQ1OT1 (the most-often misregulated imprinted gene in BWS) was biallelically-expressed in various organs in two out of seven overgrown conceptuses from the ART group, but shows monoallelic expression in all tissues of the AI conceptuses. Furthermore, biallelic expression of KCNQ1OT1 is associated with loss of methylation at the KvDMR1 on the maternal allele and with downregulation of the maternally-expressed gene CDKN1C. In conclusion, our results show phenotypic and epigenetic similarities between LOS and BWS, and we propose the use of LOS as an animal model to investigate the etiology of BWS. PMID:23751783

Chen, Zhiyuan; Robbins, Katherine Marie; Wells, Kevin Dale; Rivera, Rocío Melissa

2013-01-01

393

Rett Syndrome – an update  

Microsoft Academic Search

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

K. A. Jellinger

2003-01-01

394

Buschke-Ollendorf Syndrome  

Microsoft Academic Search

Two identical twins with the Buschke-Ollendorf syndrome (dermatofibrosis lenticularis disseminata with osteopoikilosis) are described. Ultrastructurally elastic fibers show clumps of electron-lucent elastin material coated with fine fibrils. The fibroblasts show enlarged endoplasmic reticulum containing abnormal fibrillar material. Juvenile elastoma seems to be a better term than dermatofibrosis. The pathogenesis of the elastic defect is discussed.Copyright © 1983 S. Karger AG,

J. L. Reymond; P. Stoebner; J. C. Beani; P. Amblard

1983-01-01

395

Acupuncture for climacteric syndrome  

Microsoft Academic Search

This paper reviews and analyzes 50 articles concerning the treatment of climacteric syndrome by acupuncture and moxibustion\\u000a therapries. The therapies were single acupuncture, acupuncture combining other methods, auricular-plaster therapy, and some\\u000a other therapies. Clear diagnostic criteria were found in 39 articles, and the most common-used criteria wereCombination of TCM and Western Medicine Diagnostics and Therapeutics, Kupperman Index Scoring andCriterion of

Cui Xue-jun; Huang Qin-feng

2004-01-01

396

Autoinflammatorische Syndrome\\/Fiebersyndrome  

Microsoft Academic Search

Zusammenfassung  Hereditäre periodische Fiebersyndrome, auch autoinflammatorische Syndrome genannt, zeichnen sich meist durch rezidivierende\\u000a Fieberschübe aus, die mit weiteren Manifestationen z. B. an Haut, Schleimhäuten, serösen Häuten und Gelenken einhergehen.\\u000a Einige Krankheitsbilder gehen allerdings nur mit serologischen Entzündungszeichen ohne Fieber, aber mit anderen klinischen\\u000a Manifestationen einher. Es besteht meist eine ausgeprägte serologische Entzündungskonstellation mit Erhöhung des Serumamyloid A,\\u000a was zu einem erhöhten Amyloidoserisiko führt.

J. Schedel; B. Bach; J. B. Kümmerle-Deschner; I. Kötter

2011-01-01

397

Slipping rib syndrome.  

PubMed

Three cases of slipping rib syndrome are presented. The pertinent anatomy of the costal margin and nerve supply are reviewed. The treatment of the disease is presented along with case histories. This entity is little known to the medical profession, although first described in 1919. Probably far more common than is realized, it should always be included in the differential diagnosis of thoracic and abdominal pain. PMID:501752

Bass, J; Pan, H C; Fegelman, R H

1979-09-01

398

Slipping Rib Syndrome  

PubMed Central

Three cases of slipping rib syndrome are presented. The pertinent anatomy of the costal margin and nerve supply are reviewed. The treatment of the disease is presented along with case histories. This entity is little known to the medical profession, although first described in 1919. Probably far more common than is realized, it should always be included in the differential diagnosis of thoracic and abdominal pain. PMID:501752

Bass, James; Pan, Huai C.; Fegelman, Ronald H.

1979-01-01

399

Brachycephalic airway syndrome.  

PubMed

Brachycephalic airway syndrome is a common finding in brachycephalic breeds. A combination of primary and secondary changes can progress to life-threatening laryngeal collapse. Early recognition of primary anatomic abnormalities that include stenotic nares, elongated soft palate, and hypoplastic trachea would allow the clinician to make early recommendations for medical and surgical management, which can improve the quality of life in affected animals. PMID:24182996

Meola, Stacy D

2013-08-01

400

Management of Myelodysplastic Syndromes  

PubMed Central

Myelodysplastic syndromes (MDS) are a heterogeneous collection of hematopoietic disorders characterized by low blood counts and a tendency to progress to acute myeloid leukemia. Treatment options have increased over the past 10 years, and many new agents are currently being investigated. In this article, we review the diagnosis of MDS, prognostic systems, and treatment options, including supportive care, erythropoiesis-stimulating agents, antithymocyte globulin, lenalidomide, azacitidine, decitabine, intensive chemotherapy, and hematopoietic cell transplantation. PMID:19086598

SCOTT, BART L.; ESTEY, ELI

2009-01-01

401

Nelson's syndrome in pregnancy  

SciTech Connect

The therapeutic considerations in the management of Nelson's syndrome in a 29 year old primigravida are described. CT scans revealed a 2-cm solid pituitary lesion with suprasellar extension and chiasmatic encroachment. A transsphenoidal hypophysectomy was performed to remove a eosinophilic pituitary adenoma. The patient's symptoms improved following surgery. Fetal growth was followed by ultrasound and a female infant was delivered by cesarean section. Follow-up CT scan 2 weeks after delivery revealed no evidence of tumor recurrence.

Surrey, E.S.; Chang, R.J.

1985-10-01

402

Genetics of metabolic syndrome  

Microsoft Academic Search

Metabolic syndrome (MetS) is a common phenotype, affecting about 24% of the US population. It is associated with an increased\\u000a risk for type 2 diabetes and cardiovascular disease. Although there is no universally accepted definition for MetS, affected\\u000a individuals commonly have a cluster of features, including abdominal obesity, hypertension, dyslipidemia, and dysglycemia.\\u000a Recently, there has been extensive interest in potential

Tisha Joy; Piya Lahiry; Rebecca L. Pollex; Robert A. Hegele

2008-01-01

403

Bone marrow edema syndrome  

Microsoft Academic Search

Bone marrow edema syndrome (BMES) refers to transient clinical conditions with unknown pathogenic mechanism, such as transient\\u000a osteoporosis of the hip (TOH), regional migratory osteoporosis (RMO), and reflex sympathetic dystrophy (RSD). BMES is primarily\\u000a characterized by bone marrow edema (BME) pattern. The disease mainly affects the hip, the knee, and the ankle of middle-aged\\u000a males. Many hypotheses have been proposed

Anastasios V. Korompilias; Apostolos H. Karantanas; Marios G. Lykissas; Alexandros E. Beris

2009-01-01

404

Behçet’s Syndrome  

Microsoft Academic Search

Behçet’s syndrome is a systemic vasculitis with an unknown etiology affecting the small and large vessels of the venous and\\u000a arterial systems. At least two clusters of disease expression have been described. The first includes superficial vein thrombosis,\\u000a deep vein thrombosis, and dural sinus thrombi. The second includes acne, arthritis, and enthesitis. The presence of these\\u000a clusters suggests there may

Yusuf Yazici; Sebahattin Yurdakul; Hasan Yazici

2010-01-01

405

Unusual presentation of Klinefelter syndrome  

PubMed Central

Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

2013-01-01

406

Scoliosis in cat cry syndrome  

Microsoft Academic Search

Background  Cat cry syndrome is an autosomal disease accompanying abnormal deletion of chromosome 5 and occurs in only 1 of 50,000 neonates.\\u000a Scoliosis has been reported as a skeletal complication in cat cry syndrome. The characteristics and causes of scoliosis in\\u000a this rare syndrome are unknown. The purpose of this study was to present the characteristics of scoliosis in cat cry

Tsuneo Takebayashi; Hiroyuki Obata; Yasuhiko Minaki; Masatoshi Sekine; Kenshi Imoto; Kazutoshi Yokogushi; Toshihiko Yamashita

2006-01-01

407

Turner Syndrome: Diagnosis and Management  

Microsoft Academic Search

Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the par- tial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissec- tion. These

THOMAS MORGAN

408

Branchio-oto-renal syndrome.  

PubMed

Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney. PMID:19263692

Garg, A; Wadhera, R; Gulati, S P; Kumar, A

2008-11-01

409

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.  

PubMed

Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). Five of these syndromes are caused by fibroblast growth factor receptor (FGFR) mutations; one is caused by ras-like in rat brain 23 (RAB23) mutations; and three have Mendelian patterns of inheritance, but the molecular basis remains unknown to date. PMID:19293680

Cohen, M Michael

2009-03-01

410

Surgery for Tourette syndrome.  

PubMed

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

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

2013-01-01

411

[Psychomotor disadaptation syndrome].  

PubMed

Psychomotor disadaptation syndrome (PDS) was first described in France by the Dijon geriatric school, 25 years ago, and named "psychomotor regression syndrome". The initial clinical description still remains without modifications. However, progress has been made both in understanding its physiopathology and management, and its name has been changed into PDS in the late 1990s. Since the early 2000s, it was also termed frontal-sub-cortical dysfunction syndrome. PDS results from decompensation of postural function, gait and psychomotor automatisms linked to posture and motor programming impairment related to fronto-sub-cortical lesions. PDS is characterized by retropulsion, non-specific gait disorders, neurological signs (including akinesia, reactional hypertonia, and impaired reactive postural responses and protective reactions) and psychological disorders (fear of standing and walking as an acute feature or cognitive processing retardation and anhedonia as a chronic feature). PDS occurrence is linked to three factors implicated in functional reserve impairment due to frontal-sub-cortical structures disturbances: aging, chronic affections (mainly of degenerative or vascular origin), and acute organic or functional factors which induce cerebral blood flow decrease. Multidisciplinary management, including medical motor physiotherapy and psychological approach, is required for patients with PDS care. PMID:24647243

Manckoundia, Patrick; Soungui, Eric Ntari; Tavernier-Vidal, Béatrice; Mourey, France

2014-03-01

412

Familial Cold Autoinflammatory Syndrome  

PubMed Central

Familial cold autoinflammatory syndrome is an autosomal dominant inherited inflammatory disease characterized by episodes of rash, fever, and joint pain following generalized exposure to cold. Attacks usually occur 1–2 hours after exposure and last less than 24 hours. It has been reported primarily in families from North America and Europe, but sporadic cases have also been reported. The diagnosis is based on clinical presentation and can be confirmed by the identification of a NALP3 mutation. No clinical trials have been performed with FCAS patients, but anakinra, an IL-1 receptor antagonist, has been effective at preventing symptoms prior to a cold challenge and as a maintenance medication in several patients. The NALP3 gene, also known as CIAS1, is expressed in peripheral blood leukocytes and chondrocytes and codes a protein also known as Cryopyrin. NALP3 mutations have also been identified in Muckle Wells syndrome and Chronic infantile neurologic cutanaeous articular syndrome. There are several laboratories in Europe and North America where sequencing of NALP3 is performed. PMID:11590390

Hoffman, Doctor Hal M

2015-01-01

413

Frailty syndrome: an overview  

PubMed Central

Frailty is a common and important geriatric syndrome characterized by age-associated declines in physiologic reserve and function across multiorgan systems, leading to increased vulnerability for adverse health outcomes. Two major frailty models have been described in the literature. The frailty phenotype defines frailty as a distinct clinical syndrome meeting three or more of five phenotypic criteria: weakness, slowness, low level of physical activity, self-reported exhaustion, and unintentional weight loss. The frailty index defines frailty as cumulative deficits identified in a comprehensive geriatric assessment. Significant progress has recently been made in understanding the pathogenesis of frailty. Chronic inflammation is likely a key pathophysiologic process that contributes to the frailty syndrome directly and indirectly through other intermediate physiologic systems, such as the musculoskeletal, endocrine, and hematologic systems. The complex multifactorial etiologies of frailty also include obesity and specific diseases. Major clinical applications include risk assessment and stratification. This can be applied to the elderly population in the community and in a variety of care settings. Frailty may also be useful for risk assessment in surgical patients and those with cardiovascular diseases, cancer, or human immunodeficiency virus infection, as well as for assessment of vaccine effectiveness in older adults. Currently, exercise and comprehensive geriatric interdisciplinary assessment and treatment are key interventions for frailty. As understanding of the biologic basis and complexity of frailty further improves, more effective and targeted interventional strategies and innovative geriatric-care models will likely be developed. PMID:24672230

Chen, Xujiao; Mao, Genxiang; Leng, Sean X

2014-01-01

414

Milk-Alkali Syndrome  

PubMed Central

Milk-alkali syndrome (MAS) consists of hypercalcemia, various degrees of renal failure, and metabolic alkalosis due to ingestion of large amounts of calcium and absorbable alkali. This syndrome was first identified after medical treatment of peptic ulcer disease with milk and alkali was widely adopted at the beginning of the 20th century. With the introduction of histamine2 blockers and proton pump inhibitors, the occurrence of MAS became rare; however, a resurgence of MAS has been witnessed because of the wide availability and increasing use of calcium carbonate, mostly for osteoporosis prevention. The aim of this review was to determine the incidence, pathogenesis, histologic findings, diagnosis, and clinical course of MAS. A MEDLINE search was performed with the keyword milk-alkali syndrome using the PubMed search engine. All relevant English language articles were reviewed. The exact pathomechanism of MAS remains uncertain, but a unique interplay between hypercalcemia and alkalosis in the kidneys seems to lead to a self-reinforcing cycle, resulting in the clinical picture of MAS. Treatment is supportive and involves hydration and withdrawal of the offending agents. Physicians and the public need to be aware of the potential adverse effects of ingesting excessive amounts of calcium carbonate. PMID:19252114

Medarov, Boris I.

2009-01-01

415

Genetics Home Reference: Alström syndrome  

MedlinePLUS

... acanthosis nigricans ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; diabetes ; diabetes mellitus ; dilated ; gene ; inherited ; insulin ; insulin resistance ; protein ; recessive ; short stature ; stature ; syndrome You may find ...

416

Dry eye and Meige's syndrome  

PubMed Central

AIMS—To determine the relation between dry eye and Meige's syndrome.?METHODS—325 patients with dry eye were divided into those responsive to topical and other forms of treatment (n=276) and those who were not (n=49). A neuropsychiatric examination was performed to check for Meige's syndrome in the latter group.?RESULTS—Twenty eight (57%) of the treatment unresponsive patients were diagnosed with Meige's syndrome.?CONCLUSIONS—There is a subgroup of patients with dry eye who do not respond to simple therapy. More than half of these patients have Meige's syndrome and need psychiatric, as well as ophthalmic, care.?? PMID:9274405

Tsubota, K.; Fujihara, T.; Kaido, M.; Mori, A.; Mimura, M.; Kato, M.

1997-01-01

417

Hyperventilation and exhaustion syndrome  

PubMed Central

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

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

2014-01-01

418

[Childhood periodic syndromes].  

PubMed

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis is entertained after exhaustive evaluations have proved unrevealing. The recommended diagnostic approach uses a strategy of targeted testing, which may include gastrointestinal and metabolic evaluations. Therapeutic recommendations include reassurance, both of the child and parents, lifestyle changes, prophylactic therapy (e.g., cyproheptadine in children 5 years or younger and amitriptyline for those older than 5 years), and acute therapy (e.g., triptans, as abortive therapy, and 10% glucose and ondansetron for those requiring intravenous hydration). PMID:20447666

Cuvellier, J-C; Lépine, A

2010-01-01

419

Hyperventilation and exhaustion syndrome.  

PubMed

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 (R(2) = 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

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

2014-12-01

420

The trisomy 18 syndrome  

PubMed Central

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

2012-01-01

421

Myelodysplastic Syndromes, CSR 1975-2004  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

422

Myelodysplastic Syndromes, CSR 1975-2005  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

423

Myelodysplastic Syndromes, CSR 1975-2007  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

424

Myelodysplastic Syndromes, CSR 1975-2006  

Cancer.gov

Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

425

Oto-onycho-peroneal syndrome: confirmation of a syndrome.  

PubMed Central

We report two sibs with a similar syndrome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780). Images PMID:9643295

Devriendt, K; Stoffelen, D; Pfeiffer, R; Leys, A; Fryns, J P

1998-01-01

426

Williams syndrome presenting with findings consistent with Alagille syndrome  

PubMed Central

Key Clinical Message Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.

Sakhuja, Pankaj; Whyte, Hilary; Kamath, Binita; Martin, Nicole; Chitayat, David

2015-01-01

427

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome  

SciTech Connect

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.

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

1994-11-01

428

EEG findings in fetal alcohol syndrome and Down syndrome children  

Microsoft Academic Search

Results from previous studies evaluating the electroencephalograms (EEGs) of infants bom to alcoholic mothers suggest that the neonatal EEG may be a sensitive measure of prenatal ethanol exposure. Few studies, however, have examined EEG records of adolescent children with fetal alcohol syndrome (FAS). The present study investigated the resting EEG recordings of 18 matched triads of FAS, Down syndrome, and

W. M. Kaneko; E. L. Phillips; E. P. Riley; C. L. Ehlers

1996-01-01

429

Correlation of the Down Syndrome Protein with Down Syndrome  

Microsoft Academic Search

The sera of two hundred and fifty-nine individuals have been investigated for the presence of the Down syndrome protein (DSP) by a modified immunoelectrophoretic procedure. The results showed that 66.25 percent of the eighty couples with Down syndrome (DS) affected children were DSP positive which was well in accordance with the reported occurrence of nondisjunction at meiosis I from various

Deborah H. Sun; Julius Kerkay

1990-01-01

430

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.  

PubMed

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. PMID:24613506

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

431

Neurodevelopmental Disorders in Common Syndromes  

Microsoft Academic Search

\\u000a Numerous genetic syndromes have had the cognitive and behavioral components of the phenotype delineated, leading to improved\\u000a diagnosis of the condition, as well as to better management and interventional approaches. This article is a review of some\\u000a of what is known about the neurodevelopmental aspects of some of the more common genetic syndromes.

Helga V. Toriello

432

HANDBOOK OF MENTAL RETARDATION SYNDROMES.  

ERIC Educational Resources Information Center

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…

CARTER, CHARLES H.

433

Fragile X Syndrome. ARC Facts.  

ERIC Educational Resources Information Center

Fragile X syndrome is an inherited genetic condition identified by a break or a weakness on the long arm of the X chromosome, and associated with mental retardation. Described on this single-sheet information guide are the prevalence of fragile X syndrome, its increased rate of incidence in boys as compared to girls, physical characteristics,…

Association for Retarded Citizens, Arlington, TX.

434

Down Syndrome = Sindrome de Down.  

ERIC Educational Resources Information Center

Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

Pueschel, S. M.; Glasgow, R. E.

435

Plummer Vinson syndrome: unusual features.  

PubMed

Plummer Vinson syndrome is a constellation of postcricoid esophageal webs, iron deficiency anemia, dysphagia and koilonychia. We describe some unusual manifestations in three patients with this syndrome; these were clubbing instead of koilonychia, tortuous esophagus in addition to presence of esophageal webs, and celiac disease. PMID:11990331

Makharia, Govind K; Nandi, Bhaskar; Garg, Pramod K; Tandon, Rakesh K

2002-01-01

436

Cornelia de Lange Syndrome Foundation  

MedlinePLUS

... online suggestion box . Mailing Address: Cornelia de Lange Syndrome Foundation 302 West Main Street, #100 Avon, Connecticut 06001 USA What Is CdLS? Who We Are What We Do Research Get Involved Find Support ... Terms Site Map The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that ...

437

Tactile Sensitivity in Asperger Syndrome  

ERIC Educational Resources Information Center

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…

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

2006-01-01

438

Noonan's Syndrome and Autoimmune Thyroiditis  

ERIC Educational Resources Information Center

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

Vesterhus, Per; Aarskog, Dagfinn

1973-01-01

439

Meiotic Chromosomes in Klinefelter's Syndrome  

Microsoft Academic Search

SMALL testes and aspermia are both characteristic features of Klinefelter's syndrome, and histological examination of the testes usually shows a lack of active spermatogenesis. Biopsies on testes which were still spermatogenous have been reported1-5, however, so we thought it might be possible to study chromosome meiosis in this syndrome, although we could find no previous reference to such work.

N. E. Skakkebaek; J. Philip; R. Hammen

1969-01-01

440

How many functional somatic syndromes?  

Microsoft Academic Search

Objective: Patients with medically unexplained symptoms are given diagnoses dependent upon the particular medical specialty consulted — irritable bowel syndrome in gastroenterology, fibromyalgia in rheumatology and others. The purpose of this paper is to establish whether these 13 different syndromes are discrete entities. Methods: Consecutive new patients in seven outpatient clinics at two general hospitals were recruited. Patients completed questionnaires

Chaichana Nimnuan; Sophia Rabe-Hesketh; Simon Wessely; Matthew Hotopf

2001-01-01

441

Bowel dysfunction in fibromyalgia syndrome  

Microsoft Academic Search

Fibromyalgia and irritable bowel syndrome frequently coexist. In this study, we utilized a previously validated self-administered questionnaire to assess the prevalence of symptoms of bowel dysfunction and irritable bowel syndrome in 123 patients with fibromyalgia as compared to 54 patients with degenerative joint disease (DJD) and 46 normal controls. Ninety (73%) of the fibromyalgia patients reported altered bowel function as

George Triadafilopoulos; Robert W. Simms; Don L. Goldenberg

1991-01-01

442

Löfgren's syndrome misdiagnosed as cellulitis.  

PubMed

Löfgren's syndrome is an acute-onset presentation of sarcoidosis that can be easily missed in an ED setting. A case is reported of Löfgren's syndrome presenting as erythema nodosum with bilateral ankle oedema. Although rare, this diagnosis should be considered when examining a patient with erythema nodosum and articular symptoms. PMID:21668726

Cheng, Daryl Ray; Maini, Amit

2011-06-01

443

[Maffucci syndrome and ovarian tumor].  

PubMed

Maffucci's syndrome was first described in 1881 and results of a mesodermic dysembryoplasia, congenital but not hereditary. Pathogenic hypothesis are multiple. This syndrome is characterized by the occurrence of multiple haemangiomas in the soft tissue, and multiple enchondromas of the bones. The association of ovary tumor is however exceptional. Four cases are reported in the literature; we report the fifth case. PMID:8204959

Hamdoun, L; Mouelhi, C; Zhioua, F; Jedoui, A; Meriah, S; Houet, S

1993-09-01

444

Genetics Home Reference: Frasier syndrome  

MedlinePLUS

... are related to Frasier syndrome? Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that ... DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 ...

445

Usher's Syndrome: A 1986 Update.  

ERIC Educational Resources Information Center

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…

Baechle, Cathy L.; Rittenhouse, Robert K.

446

Congenital glaucoma in Wagner syndrome.  

PubMed

Wagner syndrome is a rare inherited vitreoretinopathy. We describe 3 related patients with Wagner syndrome who presented with congenital glaucoma at age 3 months and required multiple surgical interventions to control their intraocular pressure. All experienced visual loss and glaucomatous optic neuropathy. PMID:24767812

Jewsbury, Hugh; Fry, Andrew E; Watts, Patrick; Nas, Veronique; Morgan, James

2014-06-01

447

The metabolic syndrome in women  

Microsoft Academic Search

The metabolic syndrome is estimated to be present in 47 million US residents with a similar age-adjusted prevalence in men (24%) and women (23%). The consideration of various metabolic risk factors as a single entity in the metabolic syndrome provides clinicians with a tool by which they can identify a population at increased risk for type 2 diabetes mellitus and

Katherine Koruda; Ellen W Seely; Rhonda Bentley-Lewis

2007-01-01

448

Diagnosing and treating metabolic syndrome  

Microsoft Academic Search

Recent studies have shown that approximately 22% of adults in the United States have metabolic syndrome, a loosely defined clustering of cardiovascular risk factors, including abdominal obesity, hypertriglyceridemia, low levels of high-density lipoprotein cholesterol (HDL-C), hypertension, and insulin resistance. With this syndrome looming as one of the most prevalent diseases of mankind (as well as one of the most preventable),

Richard F. Kutschman; Sue Hadley

2004-01-01

449

Branchio-oto-renal syndrome.  

PubMed

The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome also known as Melnick Fraser syndrome. We present a case of this rare disorder in a girl child who presented with profound deafness, preauricular pits, branchial sinuses and renal hypoplasia. PMID:24848399

Jalil, Jawad; Basheer, Faisal; Shafique, Mobeen

2014-05-01

450

Intestinal telangiectasis in Turner's syndrome.  

PubMed

A 37-year old female with Turner's syndrome, iron deficiency anemia and intermittent gastrointestinal hemorrhage is described. Gastrointestinal endoscopy with biopsies, revealed telangiectasia in the duodenal bulb, the cecum and the ascending colon. Endoscopy should be performed in patients with Turner's syndrome and anemia even if there are not signs of active gastrointestinal bleeding. PMID:6971752

Rutlin, E; Wisløff, F; Myren, J; Serck-Hanssen, A

1981-03-01

451

Rothmund-Thomson syndrome  

PubMed Central

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

2010-01-01

452

Rothmund-Thomson syndrome.  

PubMed

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

Larizza, Lidia; Roversi, Gaia; Volpi, Ludovica

2010-01-01

453

Motoric cognitive risk syndrome  

PubMed Central

Objectives: Our objective is to report prevalence of motoric cognitive risk syndrome (MCR), a newly described predementia syndrome characterized by slow gait and cognitive complaints, in multiple countries, and its association with dementia risk. Methods: Pooled MCR prevalence analysis of individual data from 26,802 adults without dementia and disability aged 60 years and older from 22 cohorts from 17 countries. We also examined risk of incident cognitive impairment (Mini-Mental State Examination decline ?4 points) and dementia associated with MCR in 4,812 individuals without dementia with baseline Mini-Mental State Examination scores ?25 from 4 prospective cohort studies using Cox models adjusted for potential confounders. Results: At baseline, 2,808 of the 26,802 participants met MCR criteria. Pooled MCR prevalence was 9.7% (95% confidence interval [CI] 8.2%–11.2%). MCR prevalence was higher with older age but there were no sex differences. MCR predicted risk of developing incident cognitive impairment in the pooled sample (adjusted hazard ratio [aHR] 2.0, 95% CI 1.7–2.4); aHRs were 1.5 to 2.7 in the individual cohorts. MCR also predicted dementia in the pooled sample (aHR 1.9, 95% CI 1.5–2.3). The results persisted even after excluding participants with possible cognitive impairment, accounting for early dementia, and diagnostic overlap with other predementia syndromes. Conclusion: MCR is common in older adults, and is a strong and early risk factor for cognitive decline. This clinical approach can be easily applied to identify high-risk seniors in a wide variety of settings. PMID:25031288

Annweiler, Cedric; Ayers, Emmeline; Barzilai, Nir; Beauchet, Olivier; Bennett, David A.; Bridenbaugh, Stephanie A.; Buchman, Aron S.; Callisaya, Michele L.; Camicioli, Richard; Capistrant, Benjamin; Chatterji, Somnath; De Cock, Anne-Marie; Ferrucci, Luigi; Giladi, Nir; Guralnik, Jack M.; Hausdorff, Jeffrey M.; Holtzer, Roee; Kim, Ki Woong; Kowal, Paul; Kressig, Reto W.; Lim, Jae-Young; Lord, Susan; Meguro, Kenichi; Montero-Odasso, Manuel; Muir-Hunter, Susan W.; Noone, Mohan L.; Rochester, Lynn; Srikanth, Velandai; Wang, Cuiling

2014-01-01

454

Tremor in 48,XXYY syndrome.  

PubMed

The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism. PMID:19705466

Tartaglia, Nicole; Borodyanskaya, M; Borodyanskya, Mariya; Hall, Deborah A

2009-10-15

455

Lemierre syndrome: not so forgotten!  

PubMed

Lemierre syndrome is a rare and life-threatening illness. Often referred to as "the forgotten disease," its incidence is reported to be as low as 1 in a million. The microorganism responsible for Lemierre syndrome is typically Fusobacterium necrophorum. The bacterium starts in the pharynx and peritonsillar tissue, then disseminates through lymphatic vessels. Severe sepsis rapidly develops, as does the hallmark of this syndrome: septic thrombophlebitis of the internal jugular vein. This report describes a case of Lemierre syndrome in a previously healthy 26-year-old man with life-threatening internal jugular vein thrombophlebitis following 2 weeks of an indolent course of pharyngitis. The patient's initial presentation and extensive travel history as an Army veteran were particularly challenging aspects in establishing his diagnosis. The diagnosis of Lemierre syndrome is frequently delayed. Routine use of bedside ultrasonography may aid in rapid diagnosis of the disease. PMID:24585168

Gupta, Nishant; Kralovic, Stephen M; McGraw, Dennis

2014-03-01

456

[Hypovitaminosis D and metabolic syndrome].  

PubMed

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

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

2014-12-23

457

Tics and tourette syndrome.  

PubMed

Gilles de la Tourette syndrome is a common neuropsychiatric disorder spectrum with tics as the defining feature. Comorbidities such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder often complicate clinical presentation. Their recognition is paramount for the introduction of efficient treatment strategies to promote healthy development and good quality of life. Here, knowledge on the movement disorder of tics, the spectrum of associated comorbidities, and the list of differential diagnoses of tic disorders are summarized. Also, an account of the prevailing pathophysiologic models of tic generation is provided, and a concise update on contemporary treatment strategies is presented. PMID:25432726

Ganos, Christos; Martino, Davide

2015-02-01

458

[Postural orthostatic tachycardia syndrome.  

PubMed

Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous condition of dysautonomia and suspected autoimmunity characterized by abnormal increments in heart rate upon assumption of the upright posture accompanied by symptoms of cerebral hypoperfusion and sympathoexcitation. An increase in heart rate equal to or greater than 30 bpm or to levels higher than 120 bpm during a head-up tilt test is the main diagnostic criterion. Management includes both non-pharmacological and pharmacological treatment focusing on stress management, volume expansion and heart rate control. PMID:25350809

Brinth, Louise; Pors, Kirsten; Mehlsen, Jesper

2014-03-10

459

Recurrent tarsal tunnel syndrome.  

PubMed

Recurrence of tarsal tunnel syndrome after surgery may be due to inadequate release, lack of understanding or appreciation of the actual anatomy involved, variations in the anatomy of the nerve(s), failure to execute the release properly, bleeding with subsequent scarring, damage to the nerve and branches, persistent hypersensitivity of the nerves, and preexisting intrinsic damage to the nerve. Approaches include more thorough release, use of barrier materials to decrease adherence of the nerve to surrounding tissues to avoid traction neuritis, excisions of neuromas using conduits, and consideration of nerve stimulators and systemic medications to deal with persistent neural pain. PMID:25129355

Gould, John S

2014-09-01

460

Guillain-Barré syndrome  

Microsoft Academic Search

Guillain-Barré syndrome (GBS) is currently divided into the two major subtypes: acute inflammatory demyelinating polyneuropathy\\u000a (AIDP) and acute motor axonal neuropathy (AMAN). This review highlights relevant recent publications, particularly on the\\u000a pathophysiology of AMAN. Molecular mimicry of the bacterial lipo-oligosaccharide by the human gangliosides is now considered\\u000a an important cause of AMAN. Gangliosides GM1, GM1b, GD1a, and GalNAc-GD1a expressed on

Satoshi Kuwabara

2007-01-01

461

Stylocarotid artery syndrome.  

PubMed

Stylocarotid artery syndrome is a rare condition that results from compression of the internal or external carotid artery by the styloid process of the temporal bone. Here we present the case of a patient suffering from syncope, monoparesis of the right arm, and dysarthria due to recurrent transient ischemic attacks that resulted from severe compression of the midsegment of the left extracranial internal carotid artery between an elongated styloid process and a C2 vertebral body osteophyte. This case demonstrates successful surgical management of a condition rarely encountered by the vascular surgeon. PMID:25088736

David, Joshua; Lieb, Michael; Rahimi, Saum A

2014-12-01

462

Cri du Chat syndrome  

Microsoft Academic Search

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm\\u000a of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a\\u000a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics,\\u000a and severe psychomotor and mental retardation. Malformations,

Paola Cerruti Mainardi

2006-01-01

463

Trigeminal Trophic Syndrome  

PubMed Central

Trigeminal trophic syndrome (TTS) is a rare cause of facial ulceration, consequent to damage to the trigeminal nerve or its central sensory connections. We reporta case of TTS in a 48-year-old woman with Bell's palsy following herpes zoster infection. The patient was treated and counseled. There hasnot been any recurrence for 1 year and the patient is being followed-up. The diagnosis of TTS should be suspected when there is unilateral facial ulceration, especially involving the ala nasi associated with sensory impairment. PMID:24470665

Kumar, Parimalam; Thomas, Jayakar

2014-01-01

464

Tics and tourette syndrome.  

PubMed

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

Shaw, Zoey A; Coffey, Barbara J

2014-09-01

465

Atypical Hemolytic Uremic Syndrome  

PubMed Central

Summary Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is reported, suggesting that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The underlying genetic defect predicts the prognosis both in native kidneys and after renal transplantation. The successful trials of the complement inhibitor eculizumab in the treatment of atypical HUS will revolutionize disease management. PMID:24161037

Kavanagh, David; Goodship, Tim H.; Richards, Anna

2013-01-01

466

Vasculitis in Antiphospholipid Syndrome.  

PubMed

The major manifestations of antiphospholipid syndrome (APS) are caused by thrombosis within the venous or arterial vasculature, whereas the vascular lesions in systemic vasculitis result from an inflammatory infiltrate in the vessel wall. There is an association between vascular thrombosis and inflammation, however, as vasculitis can occur in APS and thromboembolic complications are seen in systemic vasculitis. Although differentiating between vasculitis and antiphospholipid-associated thrombosis can be difficult, it may be crucial to do so given the different therapeutic implications for immunosuppression or anticoagulation. This article explores the relationship between thrombosis and inflammation as it relates to APS and systemic vasculitis. PMID:25399943

Lally, Lindsay; Sammaritano, Lisa R

2015-01-01

467

Paraneoplastic neurological syndromes.  

PubMed

Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, affecting less than 1/10,000 patients with cancer. Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. PNS can affect any part of the central and peripheral nervous system, the neuromuscular junction, and muscle. They can be isolated or occur in association. In most patients, the neurological disorder develops before the cancer becomes clinically overt and the patient is referred to the neurologist who has the charge of identifying a neurological disorder as paraneoplastic. PNS are usually severely disabling. The most common PNS are Lambert-Eaton myasthenic syndrome (LEMS), subacute cerebellar ataxia, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and dermatomyositis. PNS are caused by autoimmune processes triggered by the cancer and directed against antigens common to both the cancer and the nervous system, designated as onconeural antigens. Due to their high specificity (> 90%), the best way to diagnose a neurological disorder as paraneoplastic is to identify one of the well-characterized anti-onconeural protein antibodies in the patient's serum. In addition, as these antibodies are associated with a restricted range of cancers, they can guide the search for the underlying tumor at a stage when it is frequently not clinically overt. This is a critical point as, to date, the best way to stabilize PNS is to treat the cancer as soon as possible. Unfortunately, about one-third of patients do not have detectable antibodies and 5% to 10% have an atypical antibody that is not well-characterized. As PNS are believed to be immune-mediated, suppression of the immune response represents another treatment approach. PMID:17480225

Honnorat, Jérôme; Antoine, Jean-Christophe

2007-01-01

468

Myofascial pain syndrome treatments.  

PubMed

Myofascial pain syndrome (MPS) is a regional pain disorder caused by taut bands of muscle fibers in skeletal muscles called myofascial trigger points. MPS is a common disorder, often diagnosed and treated by physiatrists. Treatment strategies for MPS include exercises, patient education, and trigger point injection. Pharmacologic interventions are also common, and a variety of analgesics, antiinflammatories, antidepressants, and other medications are used in clinical practice. This review explores the various treatment options for MPS, including those therapies that target myofascial trigger points and common secondary symptoms. PMID:24787338

Borg-Stein, Joanne; Iaccarino, Mary Alexis

2014-05-01

469

Ehlers-Danlos syndrome  

PubMed Central

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 4th 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

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

2014-01-01

470

Morning glory syndrome.  

PubMed

A 20 years young boy came from Sherpur was admitted in the Department of Ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 10th December 2011 with the complaints of dimness of vision of right eye since childhood. His best corrected visual acuity right eye was 6/60 and left eye was 6/6. He has no strabismus or nystagmus. Fundus examination showed right eye - large disc with funnel shaped excavation surrounded by chorioretinal disturbance, white tuft of glial tissue on central part of disc, blood vessels emerge from rim of excavation in radial pattern. By clinical examination the patient was diagnosed as morning glory syndrome. PMID:23134929

Hossain, M M; Akhanda, A H; Islam, M F; Akonjee, A R; Khan, N; Ali, M

2012-10-01

471

Slipping-rib syndrome.  

PubMed

A survey of 46 patients with the slipping-rib syndrome shows that it is a condition which affects mainly middle-aged people. It is equally common in men and women. The main symptom is upper abdominal pain, equally common on either side and occasionally bilateral. The pain is precipitated by movement and certain postures and is faithfully reproduced by pressure at one or more points on the costal margin. The cause of the "slipping rib" is not known. Symptoms are relieved by reassurance and in some cases by injection of local anaesthetic into painful sites. PMID:6107417

Wright, J T

1980-09-20

472

Slipping rib syndrome.  

PubMed

Slipping rib syndrome is a rare and underdiagnosed condition. Since approximately one third of the cases reported to date have involved patients considered to be psychoneurotic and/or who have undergone psychiatric evaluation, a conservative treatment approach is recommended. Many patients respond to simple reassurance, and in others, a single intercostal nerve block provides lasting relief. In the case reported here, radicular pain, a history of injury to the affected side, noncontributory findings on ancillary investigations, a positive response to the hooking maneuver, and relief of pain after intercostal nerve block led to the diagnosis. PMID:2813218

Abbou, S; Herman, J

1989-11-01

473

Pallister-Killian syndrome.  

PubMed

Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome 12p, most characteristically a marker isochromosome 12p that demonstrates tissue-limited mosaicism. The cytogenetic diagnosis of PKS is often cumbersome due to the absence of the isochromosome in lymphocytes requiring sampling of other tissues. The mechanism by which the isochromosome 12p results in the constellation of multiple congenital anomalies remains largely unknown. In this review, we summarize the background of, and recent advances in, the clinical and molecular understanding of PKS. PMID:25425112

Izumi, Kosuke; Krantz, Ian D

2014-12-01

474

Ehlers-Danlos syndrome.  

PubMed

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

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

2014-11-01

475

[Ocular ischemic syndrome.  

PubMed

A 76-year-old patient presented with a reduced visual acuity of 0.8. The clinical examination revealed rubeosis iridis and dilated retinal veins. In fluorescein angiography peripheral retinal ischemia could be observed and panretinal laser coagulation was immediately started. A comprehensive internistic counselling on the risk factors particularly for ocular ischemic syndrome was refused by the patient. Over time there was a progression of loss of visual acuity to complete visual loss. Magnetic resonance angiography revealed a profound stenosis of the internal carotid artery with complete closure of the left ophthalmic artery and percutaneous transluminal angioplasty was performed in vascular surgery. PMID:25480566

Abraham, S; Feucht, N; Lohmann, C P; Maier, M

2014-12-01

476

Complex regional pain syndrome  

PubMed Central

Complex regional pain syndrome (CRPS) previously known as reflex sympathetic dystrophy is a chronic neurological disorder involving the limbs characterized by disabling pain, swelling, vasomotor instability, sudomotor abnormality, and impairment of motor function. CRPS is not uncommon after hand surgery and may complicate post-operative care. There is no specific diagnostic test for CRPS and the diagnosis is based on history, clinical examination, and supportive laboratory findings. Recent modifications to diagnostic criteria have enabled clinicians to diagnose this disease more consistently. This review gives a synopsis of CRPS and discusses the diagnosis, pathophysiology, and treatment options based on the limited evidence in the literature. PMID:22022040

Sebastin, Sandeep J

2011-01-01

477

Prune belly syndrome.  

PubMed

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed. PMID:22198807

Hassett, S; Smith, G H H; Holland, A J A

2012-03-01

478

Syndrome in question.  

PubMed

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

Meireles, Sheila Itamara Ferreira do Couto; Andrade, Sônia Maria Fonseca de; Gomes, Maria Fernanda; Castro, Fernanda Aalmeida Nunes; Tebcherani, Antonio José

2014-01-01

479

Syndrome in Question*  

PubMed Central

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

Meireles, Sheila Itamara Ferreira do Couto; de Andrade, Sônia Maria Fonseca; Gomes, Maria Fernanda; Castro, Fernanda Almeida Nunes; Tebcherani, Antonio José

2014-01-01

480

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

481

Language Development and Fragile X Syndrome: Profiles, Syndrome-Specificity, and Within-Syndrome Differences  

ERIC Educational Resources Information Center

Fragile X syndrome (FXS) is the leading inherited cause of mental retardation. In this article, we review what is known about the language and related problems of individuals with FXS. In doing so, we focus on the syndrome-specific features of the language phenotype and on the organismic (i.e., genetic and individual neurocognitive and behavioral)…

Abbeduto, Leonard; Brady, Nancy; Kover, Sara T.

2007-01-01

482

Brown's syndrome: diagnosis and management.  

PubMed Central

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

Wright, K W

1999-01-01

483

[Secondary nephrotic syndrome due to cardiovascular disease].  

PubMed

Cardiovascular diseases ralely evoke nephrotic syndrome. Especially hypertensive renal disease (nephroscrelosis) and renovascular hypertension occasionally may lead to nephrotic syndrome. We reported a case of nephrotic syndrome with renovascular hypertension successfully treated with candesartan. In eldery patients cardiovascular diseases are appeared. It is very important for clinicians to detect the mechanism of nephrotic syndrome caused by cardiovascular diseases. PMID:15500142

Hirayama, Tomoya; Takahashi, Fumihiko; Kikuchi, Kenjiro

2004-10-01

484

LANGUAGE AND COMMUNICATION IN FRAGILE X SYNDROME  

E-print Network

syndromes (e.g., Down syndrome, autism). We also consider problems in language within the broader contextLANGUAGE AND COMMUNICATION IN FRAGILE X SYNDROME Leonard Abbeduto1,2* and Randi Jenssen Hagerman3 problems of individuals with fragile X syndrome (FXS). FXS is a common genetic disorder resulting from

Nguyen, Danh

485

Tourette Syndrome and Comorbid Pervasive Developmental Disorders  

Microsoft Academic Search

We examined the rates of comorbid pervasive developmental disorders in participants with Tourette syndrome. We used 7288 participants from the Tourette Syndrome International Database Consortium Registry. We found 334 (4.6%; 1 of every 22 participants) with Tourette syndrome had a comorbid pervasive developmental disorder. In participants with Tourette syndrome and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities

Larry Burd; Qing Li; Jacob Kerbeshian; Marilyn G. Klug; Roger D. Freeman

2009-01-01

486

Binder's syndrome: Report of two cases  

PubMed Central

Binder's syndrome is an uncommon entity characterized by midfacial hypoplasia along with Class III incisal relationship. The individuals with this syndrome are easily recognizable and the syndrome is mostly associated with other malocclusions. The current article presents two cases of this rare syndrome and describes its general features. PMID:24688572

Vij, Hitesh; Batra, Puneet; Sadhu, Partha; Vij, Ruchieka

2014-01-01

487

Fragile X Syndrome, Autism and Autistic Features  

Microsoft Academic Search

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

Jeremy Turk; Philip Graham

1997-01-01

488

The antiphospholipid syndrome.  

PubMed

The antiphospholipid syndrome encompasses a wide spectrum of presentations cutting across all subspecialties of medicine. It is characterized by recurrent thrombotic events involving both the arterial and venous systems. Large arteries and veins as well as the microcirculation are involved. Recurrent strokes, myocardial infarction, pulmonary embolism, gangrene of the digits, etc. cause much morbidity and mortality in affected patients. It is recognized as an important cause of recurrent pregnancy loss. The risk in pregnancy extends to a propensity towards pre-eclampsia, abruptio placentae and intrauterine growth retardation. It often manifests as asymptomatic thrombocytopenia and sometimes as a life-threatening form called catastrophic anti-phospholipid syndrome. The management of thrombotic events rests on high grade anticoagulation (INR 3-4) as lower values of INR than this often fail to prevent recurrence. Aspirin is generally added in case of arterial thrombosis. A combination of heparin and aspirin at least in the first trimester and sometimes throughout pregnancy is used to prevent foetal loss. PMID:14765622

Grover, Rahul; Kumar, Ashok

2003-01-01

489

[Incisura scapulae syndrome].  

PubMed

The suprascapular nerve may rarely be entrapped in the suprascapular notch. This causes weakness of the supra- and infraspinatus muscles and pain in the glenohumeral and acromioclavicular joints, which are innervated by this nerve. The entrapment syndrome may result from direct or indirect trauma, fracture of the neck of the scapula, kinking or traction on a sling affecting the nerve, from the shape of the notch, compression by a ganglion, or its cause may be idiopathic. Diagnosis of the syndrome is based upon deep unceasing pain reported at the postero-lateral shoulder, atrophy of the supra- and infraspinatus muscles, and impaired shoulder external rotation and a lidocaine test. The final proof is taken from polyphasic EMG potentials which are decreased in amplitude and increased in distal latency. Initially the entrapment neuropathy may be treated by immobilization, analgesics, and physiotherapy. A tear of the rotator cuff as well as a frozen shoulder have to be excluded by arthrography. In persistent cases of pain and pathologic EMG findings surgical decompression of the nerve should be done. The trapezius muscle is approached by a postero-superior incision. Via the suprascapular fossa the notch may be reached. Then the nerve is decompressed by removing the transverse scapular ligament. Reports of the cases operated so far are promising, though their number is small. PMID:2198200

Habermeyer, P; Rapaport, D; Wiedemann, E; Wilhelm, K

1990-05-01

490

Os Trigonum Syndrome.  

PubMed

Os trigonum syndrome is the result of an overuse injury of the posterior ankle caused by repetitive plantar flexion stress. It is predominantly seen in ballet dancers and soccer players and is primarily a clinical diagnosis of exacerbated posterior ankle pain while dancing on pointe or demi-pointe or while doing push-off maneuvers. Symptoms may improve with rest or activity modification. Imaging studies, including a lateral radiographic view of the ankle in maximal plantar flexion, will typically reveal the os trigonum between the posterior tibial lip and calcaneus. If an os trigonum is absent on radiography, an MRI may reveal scar tissue behind the posterior talus, a condition associated with similar symptoms. Os trigonum syndrome is often associated with pathology of the flexor hallucis longus tendon. Treatment begins with nonsurgical measures. In addition to physical therapy, symptomatic athletes may need surgical excision of os trigonum secondary to unavoidable plantar flexion associated with their sport. This surgery can be performed using open or arthroscopic approaches. PMID:25157036

Nault, Marie-Lyne; Kocher, Mininder S; Micheli, Lyle J

2014-09-01

491

Genetics of Pseudoexfoliation Syndrome  

PubMed Central

Purpose of Review Pseudoexfoliation syndrome (XFS) is a late onset and complex disorder that is strongly associated with the development of glaucoma. The purpose of this review is to discuss the inheritance patterns and recent genetic advances in the study of this disorder. Recent Findings XFS has a strong familial association and recently, the lysyl oxidase-like 1 gene (LOXL1) has been strongly associated with this disorder. This gene is involved in the synthesis and maintenance of elastic fibers and therefore has a strong biological rationale for being involved in this disorder. However, the exact relationship between LOXL1 polymorphisms and the development of XFS has not been elucidated. Also, the value of genetic testing for this disorder has not been validated. Summary Pseudoexfoliation syndrome is an important risk factor for glaucoma and LOXL1 polymorphisms are strongly associated with XFS. The mechanisms behind glaucoma development and the value of genetic testing are not clear and further study is needed. PMID:19240540

Challa, Pratap

2009-01-01

492

Common pediatric epilepsy syndromes.  

PubMed

Benign rolandic epilepsy (BRE), childhood idiopathic occipital epilepsy (CIOE), childhood absence epilepsy (CAE), and juvenile myoclonic epilepsy (JME) are some of the common epilepsy syndromes in the pediatric age group. Among the four, BRE is the most commonly encountered. BRE remits by age 16 years with many children requiring no treatment. Seizures in CAE also remit at the rate of approximately 80%; whereas, JME is considered a lifelong condition even with the use of antiepileptic drugs (AEDs). Neonates and infants may also present with seizures that are self-limited with no associated psychomotor disturbances. Benign familial neonatal convulsions caused by a channelopathy, and inherited in an autosomal dominant manner, have a favorable outcome with spontaneous resolution. Benign idiopathic neonatal seizures, also referred to as "fifth-day fits," are an example of another epilepsy syndrome in infants that carries a good prognosis. BRE, CIOE, benign familial neonatal convulsions, benign idiopathic neonatal seizures, and benign myoclonic epilepsy in infancy are characterized as "benign" idiopathic age-related epilepsies as they have favorable implications, no structural brain abnormality, are sensitive to AEDs, have a high remission rate, and have no associated psychomotor disturbances. However, sometimes selected patients may have associated comorbidities such as cognitive and language delay for which the term "benign" may not be appropriate. [Pediatr Ann. 2015;44(2):e30-e35.]. PMID:25658216

Park, Jun T; Shahid, Asim M; Jammoul, Adham

2015-02-01

493

Renal coloboma syndrome  

PubMed Central

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst and pigmentary macular dysplasia. The kidney abnormalities consist of small and abnormally formed kidneys known as renal hypodysplasia. Histologically, kidneys exhibit fewer than the normal number of glomeruli and these glomeruli are enlarged, a finding called oligomeganephronia. Consequences of the ocular malformations include decreased visual acuity and retinal detachment. Consequences of the renal hypodysplasia include hypertension, proteinuria and renal insufficiency that frequently progresses to end-stage kidney disease. High frequency hearing loss has been reported. Autosomal dominant mutations in PAX2 can be identified in nearly half of all patients with clinical findings suggestive of RCS, however, the majority of published cases have mutations in PAX2, thus biasing the known information about the phenotype. PMID:21654726

Schimmenti, Lisa A

2011-01-01

494

Sweet's syndrome with idiopathic thrombocythemia  

PubMed Central

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

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

2014-01-01

495

Sweet's syndrome with idiopathic thrombocythemia.  

PubMed

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

Kaszewski, Sebastian; Czajkowski, Rafa?; Protas-Drozd, Franciszka; Placek, Waldemar; Jakubowski, Sebastian

2014-02-01

496

Psychoanatomical substrates of Bálint's syndrome  

PubMed Central

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

Rizzo, M; Vecera, S

2002-01-01

497

A case of Rett syndrome.  

PubMed

A case of Rett syndrome in a-3 1/2 year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia. PMID:2488241

Lazuardi, S; Advani, N; Ismael, S

1989-01-01

498

Ogilvie's syndrome following caesarean section.  

PubMed

Acute colonic pseudo-obstruction syndrome, also known as Ogilvie's syndrome, is a rare condition associated with significant morbidity and mortality. We report a case that developed very rapidly after emergency caesarean section. A 20-year-old woman underwent an emergency caesarean section for failure to progress in the first stage of labour and a healthy male infant was delivered without incident. However, soon afterwards the patient developed significant abdominal distension and pain. Ogilvie's syndrome was diagnosed following an abdominal x-ray which revealed a gross large bowel obstruction without mechanical cause. To prevent caecal rupture, the patient underwent successful emergency colonic decompression. PMID:23784768

Latunde-Dada, Adeyinka Oluseun; Alleemudder, Djavid I; Webster, Daniel P

2013-01-01

499

The electrocardiogram in Down syndrome.  

PubMed

Down syndrome is the most common chromosomal abnormality, with an incidence of one case in every 650 live births. It is strongly associated with heart disease, which constitutes the main cause of mortality during the first 2 years of life in this population. Most of the cardiac abnormalities in patients with Down syndrome can be suspected by analysing the surface 12-lead ECG. The purpose of this systematic review was to analyse all available published material on surface ECG and cardiac rhythm and conduction abnormalities in patients with Down syndrome to facilitate the search to the clinical cardiologist and paediatrician. PMID:24690318

Caro, Milagros; Conde, Diego; Pérez-Riera, Andrés R; de Almeida, Adail P; Baranchuk, Adrian

2015-01-01

500

ADCK4 “reenergizes” nephrotic syndrome  

PubMed Central

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

Malaga-Dieguez, Laura; Susztak, Katalin

2013-01-01