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Sample records for smith-lemli-opitz syndrome diagnosed

  1. Genetics Home Reference: Smith-Lemli-Opitz syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Lemli-Opitz syndrome On this page: Description Genetic ... names Glossary definitions Reviewed July 2007 What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome is ...

  2. Smith-Lemli-Opitz Syndrome

    PubMed Central

    DeBarber, Andrea E.; Eroglu, Yasemen; Merkens, Louise S.; Pappu, Anuradha S.; Steiner, Robert D.

    2012-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability. Elucidation of the biochemical and molecular genetic basis for the autosomal recessively inherited SLOS, specifically, understanding SLOS as a cholesterol deficiency syndrome caused by mutations in DHCR7, opened up enormous possibilities for therapeutic intervention. When cholesterol was discovered to be the activator of sonic hedgehog, cholesterol deficiency with inactivation of this developmental patterning gene was thought to be the cause of SLOS malformations, yet this explanation is overly simplistic. Still, despite these important research breakthroughs, there is no proven treatment for SLOS. Better animal models are needed to allow potential treatment testing and the study of disease pathophysiology, which is incompletely understood. Creation of human cellular models will surely be useful, especially models of brain cells. In vivo human studies are essential as well. There have only been limited natural history studies of SLOS to date. Biomarker development will be critical in facilitating clinical trials in this rare condition, since clinical phenotype may change over many years. Additional research in these and other areas is critical if we are to make headway towards ameloriating the effects of this devastating condition. PMID:21777499

  3. The Smith-Lemli-Opitz syndrome

    PubMed Central

    Kelley, R.; Hennekam, R.

    2000-01-01

    The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.???Keywords: Smith-Lemli-Opitz syndrome; cholesterol metabolism; 7-dehydrocholesterol reductase; clinical history; management PMID:10807690

  4. Smith-Lemli-Opitz syndrome among Arabs.

    PubMed

    Al-Owain, M; Imtiaz, F; Shuaib, T; Edrees, A; Al-Amoudi, M; Sakati, N; Al-Hassnan, Z; Bamashmous, H; Rahbeeni, Z; Al-Ameer, S; Faqeih, E; Meyer, B; Al-Hashem, A; Garout, W; Al-Odaib, A; Rashed, M; Al-Aama, J Y

    2012-08-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3?- hydroxycholesterol ?(7) - reductase. Over the past 10 years, our biochemical laboratory has screened 191 plasma samples for possible SLOS, measuring the plasma cholesterol and 7-dehydrocholesterol using gas chromatography-mass spectrometry (GC-MS). The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, and 2-3 toe syndactyly, among other findings. All cases represented moderate to severe form of SLOS. One patient had a unique cardiovascular malformation (cor triatriatum with significant obstruction of the right pulmonary veins). Two previously reported N287K (861 C>A) and R352Q (1055 G>A) and a novel R352L (1055 G>T) mutations were identified in the DHCR7 gene in these patients. The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population. PMID:21696385

  5. Growth charts for individuals with Smith-Lemli-Opitz syndrome.

    PubMed

    Lee, Ryan W Y; McGready, John; Conley, Sandra K; Yanjanin, Nicole M; Nowaczyk, Ma?gorzata J M; Porter, Forbes D

    2012-11-01

    Smith-Lemli-Opitz syndrome (SLOS) is a rare multiple congenital anomaly neurodevelopmental syndrome of impaired cholesterol synthesis. Growth restriction and developmental delay are very common clinical manifestations of SLOS. The degree, etiology, and consequences of growth restriction in SLOS remain an area of limited knowledge to the scientific community. There have been no studies describing the growth parameters and providing reference growth charts for individuals with SLOS. Our longitudinal data from 78 patients between the ages of 0.1 and 16 years with SLOS show a growth restriction of about two standard deviations below the Centers for Disease Control (CDC) norms for age. This study represents comprehensive anthropometric data from the largest cohort available, and proposes growth charts for widespread use in the management and study of individuals with SLOS. PMID:22615010

  6. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome

    SciTech Connect

    Weinhofer, Isabelle; Kunze, Markus; Stangl, Herbert; Porter, Forbes D.; Berger, Johannes . E-mail: johannes.berger@meduniwien.ac.at

    2006-06-23

    Smith-Lemli-Opitz syndrome (SLOS), caused by 7-dehydrocholesterol-reductase (DHCR7) deficiency, shows variable severity independent of DHCR7 genotype. To test whether peroxisomes are involved in alternative cholesterol synthesis, we used [1-{sup 14}C]C24:0 for peroxisomal {beta}-oxidation to generate [1-{sup 14}C]acetyl-CoA as cholesterol precursor inside peroxisomes. The HMG-CoA reductase inhibitor lovastatin suppressed cholesterol synthesis from [2-{sup 14}C]acetate and [1-{sup 14}C]C8:0 but not from [1-{sup 14}C]C24:0, implicating a peroxisomal, lovastatin-resistant HMG-CoA reductase. In SLOS fibroblasts lacking DHCR7 activity, no cholesterol was formed from [1-{sup 14}C]C24:0-derived [1-{sup 14}C]acetyl-CoA, indicating that the alternative peroxisomal pathway also requires this enzyme. Our results implicate peroxisomes in cholesterol biosynthesis but provide no link to phenotypic variation in SLOS.

  7. Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

    PubMed Central

    Svoboda, Melissa D.; Christie, Jill M.; Eroglu, Yasemen; Freeman, Kurt A.; Steiner, Robert D.

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies and surgical interventions, as well as directions for future therapies and treatment research. PMID:23042642

  8. Enhanced placental cholesterol efflux by fetal HDL in Smith–Lemli–Opitz syndrome

    PubMed Central

    Jenkins, Katie T.; Merkens, Louise S.; Tubb, Matthew R.; Myatt, Leslie; Davidson, W. Sean; Steiner, Robert D.; Woollett, Laura A.

    2010-01-01

    Previous studies from this laboratory have shown that maternal-derived cholesterol can be effluxed from trophoblasts to fetal HDL and plasma. We had the opportunity to study for the first time the ability of HDL and plasma from a fetus with the Smith–Lemli–Opitz syndrome (SLOS) to efflux cholesterol from trophoblasts. It was unclear whether cholesterol could be effluxed to fetuses with SLOS since lipoprotein levels are often very low. To answer this question, cord blood was collected from the placentas of an SLOS fetus and unaffected fetuses just after delivery. Plasma cholesterol concentrations were very low in the affected fetus; cholesterol, 7-dehydrocholesterol, and 8-dehydocholesterol concentrations were 14.1, 4.5, and 5.2 mg/dl, respectively. The HDL from the fetal SLOS effluxed ?50% more cholesterol from a trophoblast cell line, were smaller in size, and had a lower cholesterol to phospholipid ratio as compared to HDL from unaffected fetuses or adults. Plasma from the SLOS fetus effluxed cholesterol to a similar percentage as unaffected fetal plasma or adult plasma, possibly due to fewer HDL particles as demonstrated in previous SLOS patients. These novel data demonstrate that the cholesterol-deficient SLOS fetus is able to obtain cholesterol from trophoblasts at a time when cholesterol is playing a critical role in development, and has implications for design of treatments for cholesterol deficiency syndromes as well as understanding of prenatal cholesterol transport in humans. PMID:18346920

  9. RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome.

    PubMed

    Acosta, P B

    1994-05-01

    A high cholesterol diet has been suggested to help prevent the poor reproductive outcomes found in heterozygote carriers of fetuses affected with the Smith-Lemli-Opitz (SLO) syndrome. The theory has also been presented that a high cholesterol medical food may enhance myelination of the central nervous system of the infant and prevent demyelination in the child and adult with SLO. Clinical studies are required to test this hypothesis and to determine the optimal composition of such medical foods. FDA requires proof of efficacy and controls nutrient composition, ingredients, and label claims of medical foods. PMID:8209916

  10. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

    PubMed

    Merkens, Louise S; Wassif, Christopher; Healy, Kristy; Pappu, Anuradha S; DeBarber, Andrea E; Penfield, Jennifer A; Lindsay, Rebecca A; Roullet, Jean-Baptiste; Porter, Forbes D; Steiner, Robert D

    2009-05-01

    In June 2007, the Smith-Lemli-Opitz/RSH Foundation held a scientific conference hosted jointly by Dr. Robert Steiner from Oregon Health & Science University and Dr. Forbes D. Porter from The Eunice Kennedy Shriver National Institute for Child Health and Human Development, National Institutes of Health. The main goal of this meeting was to promote interaction between scientists with expertise in cholesterol homeostasis, brain cholesterol metabolism, developmental biology, and oxysterol and neurosteroid biochemistry, clinicians researching and treating patients with Smith-Lemli-Opitz syndrome, the patient support organization and families. This report summarizes the presentations and discussions at the conference, represents the conference proceedings, and is intended to foster collaborative research and ultimately improve understanding and treatment of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol synthesis. PMID:19452638

  11. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome

    PubMed Central

    Yu, Hongwei; Wessels, Andy; Chen, Jianliang; Phelps, Aimee L; Oatis, John; Tint, G Stephen; Patel, Shailendra B

    2004-01-01

    Background Normal post-squalene cholesterol biosynthesis is important for mammalian embryonic development. Neonatal mice lacking functional dehydrocholesterol ?7-reductase (Dhcr7), a model for the human disease of Smith-Lemli-Opitz syndrome, die within 24 hours of birth. Although they have a number of biochemical and structural abnormalities, one cause of death is from apparent respiratory failure due to developmental pulmonary abnormalities. Results In this study, we characterized further the role of cholesterol deficiency in lung development of these mice. Significant growth retardation, beginning at E14.5~E16.5, was observed in Dhcr7-/- embryos. Normal lobation but smaller lungs with a significant decrease in lung-to-body weight ratio was noted in Dhcr7-/- embryos, compared to controls. Lung branching morphogenesis was comparable between Dhcr7-/- and controls at early stages, but delayed saccular development was visible in all Dhcr7-/- embryos from E17.5 onwards. Impaired pre-alveolar development of varying severity, inhibited cell proliferation, delayed differentiation of type I alveolar epithelial cells (AECs) and delayed vascular development were all evident in knockout lungs. Differentiation of type II AECs was apparently normal as judged by surfactant protein (SP) mRNAs and SP-C immunostaining. A significant amount of cholesterol was detectable in knockout lungs, implicating some maternal transfer of cholesterol. No significant differences of the spatial-temporal localization of sonic hedgehog (Shh) or its downstream targets by immunohistochemistry were detected between knockout and wild-type lungs and Shh autoprocessing occurred normally in tissues from Dhcr7-/- embryos. Conclusion Our data indicated that cholesterol deficiency caused by Dhcr7 null was associated with a distinct lung saccular hypoplasia, characterized by failure to terminally differentiate alveolar sacs, a delayed differentiation of type I AECs and an immature vascular network at late gestational stages. The molecular mechanism of impaired lung development associated with sterol deficiency by Dhcr7 loss is still unknown, but these results do not support the involvement of dysregulated Shh-Patched-Gli pathway in causing this defect. PMID:15005800

  12. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

    PubMed

    Cross, J L; Iben, J; Simpson, C L; Thurm, A; Swedo, S; Tierney, E; Bailey-Wilson, J E; Biesecker, L G; Porter, F D; Wassif, C A

    2015-06-01

    Data from massively parallel sequencing or 'Next Generation Sequencing' of the human exome has reached a critical mass in both public and private databases, in that these collections now allow researchers to critically evaluate population genetics in a manner that was not feasible a decade ago. The ability to determine pathogenic allele frequencies by evaluation of the full coding sequences and not merely a single nucleotide polymorphism (SNP) or series of SNPs will lead to more accurate estimations of incidence. For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. Estimations of the incidence of SLOS have ranged widely from 1:10,000 to 1:70,000 while the carrier frequency has been reported as high as 1 in 30. Using four exome data sets with a total of 17,836 chromosomes, we ascertained a carrier frequency of pathogenic DHRC7 mutations of 1.01%, and predict a SLOS disease incidence of 1/39,215 conceptions. This approach highlights yet another valuable aspect of the exome sequencing databases, to inform clinical and health policy decisions related to genetic counseling, prenatal testing and newborn screening. PMID:24813812

  13. Nanostructure-Initiator Mass Spectrometry (NIMS) Imaging of Brain Cholesterol Metabolites in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Patti, Gary J.; Shriver, Leah P.; Wassif, Christopher A.; Woo, Hin-Koon; Uritboonthai, Wilasinee; Apon, Jon; Manchester, Marianne; Porter, Forbes D.; Siuzdak, Gary

    2010-01-01

    Cholesterol is an essential component of cellular membranes that is required for normal lipid organization and cell signaling. While the mechanisms associated with maintaining cholesterol homeostasis in the plasma and peripheral tissues have been well studied, the role and regulation of cholesterol biosynthesis in normal brain function and development have proven much more challenging to investigate. Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol synthesis characterized by mutations of DHCR7 (7-dehydrocholesterol reductase) that impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol and lead to neurocognitive deficits, including cerebellar hypoplasia and austism behaviors. Here we have used a novel mass spectrometry-based imaging technique called cation-enhanced nanostructure-initiator mass spectrometry (NIMS) for the in situ detection of intact cholesterol molecules from biological tissues. We provide the first images of brain sterol localization in a mouse model for SLOS (Dhcr7?/?). In SLOS mice, there is a striking localization of both 7DHC and residual cholesterol in the abnormally developing cerebellum and brainstem. In contrast, the distribution of cholesterol in 1-day old healthy pups was diffuse throughout the cerebrum and comparable to that of adult mice. This study represents the first application of NIMS to localize perturbations in metabolism within pathological tissues and demonstrates that abnormal cholesterol biosynthesis may be particularly important for the development of these brain regions. PMID:20670678

  14. Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome*

    PubMed Central

    Tu, Chengjian; Li, Jun; Jiang, Xiaosheng; Sheflin, Lowell G.; Pfeffer, Bruce A.; Behringer, Matthew; Fliesler, Steven J.; Qu, Jun

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is one of the most common recessive human disorders and is characterized by multiple congenital malformations as well as neurosensory and cognitive abnormalities. A rat model of SLOS has been developed that exhibits progressive retinal degeneration and visual dysfunction; however, the molecular events underlying the degeneration and dysfunction remain poorly understood. Here, we employed a well-controlled, ion-current-based approach to compare retinas from the SLOS rat model to retinas from age- and sex-matched control rats (n = 5/group). Retinas were subjected to detergent extraction and subsequent precipitation and on-pellet-digestion procedures and then were analyzed on a long, heated column (75 cm, with small particles) with a 7-h gradient. The high analytical reproducibility of the overall proteomics procedure enabled reliable expression profiling. In total, 1,259 unique protein groups, ?40% of which were membrane proteins, were quantified under highly stringent criteria, including a peptide false discovery rate of 0.4%, with high quality ion-current data (e.g. signal-to-noise ratio ? 10) obtained independently from at least two unique peptides for each protein. The ion-current-based strategy showed greater quantitative accuracy and reproducibility over a parallel spectral counting analysis. Statistically significant alterations of 101 proteins were observed; these proteins are implicated in a variety of biological processes, including lipid metabolism, oxidative stress, cell death, proteolysis, visual transduction, and vesicular/membrane transport, consistent with the features of the associated retinal degeneration in the SLOS model. Selected targets were further validated by Western blot analysis and correlative immunohistochemistry. Importantly, although photoreceptor cell death was validated by TUNEL analysis, Western blot and immunohistochemical analyses suggested a caspase-3-independent pathway. In total, these results provide compelling new evidence implicating molecular changes beyond the initial defect in cholesterol biosynthesis in this retinal degeneration model, and they might have broader implications with respect to the pathobiological mechanism underlying SLOS. PMID:23979708

  15. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene

    SciTech Connect

    Wallace, M.; Zori, R.T.; Alley, T.; Whidden, E.; Gray, B.A.; Williams, C.A.

    1994-05-01

    A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels. Chromosomal analysis showed a de novo balanced translocation interpreted as 46,XX,t(7;20)(q32.1;q13.2). We hypothesize that the translocation breakpoint in this case interrupts one SLOS allele and that the other allele at the same locus has a more subtle mutation that was inherited from the other parent. This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32. 33 refs., 3 figs., 1 tab.

  16. 7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

    PubMed Central

    Fitzky, Barbara U.; Moebius, Fabian F.; Asaoka, Hitoshi; Waage-Baudet, Heather; Xu, Liwen; Xu, Guorong; Maeda, Nobuyo; Kluckman, Kimberly; Hiller, Sylvia; Yu, Hongwei; Batta, Ashok K.; Shefer, Sarah; Chen, Thomas; Salen, Gerald; Sulik, Kathleen; Simoni, Robert D.; Ness, Gene C.; Glossmann, Hartmut; Patel, Shailendra B.; Tint, G.S.

    2001-01-01

    Smith-Lemli-Opitz/RSH syndrome (SLOS), a relatively common birth-defect mental-retardation syndrome, is caused by mutations in DHCR7, whose product catalyzes an obligate step in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. A null mutation in the murine Dhcr7 causes an identical biochemical defect to that seen in SLOS, including markedly reduced tissue cholesterol and total sterol levels, and 30- to 40-fold elevated concentrations of 7-dehydrocholesterol. Prenatal lethality was not noted, but newborn homozygotes breathed with difficulty, did not suckle, and died soon after birth with immature lungs, enlarged bladders, and, frequently, cleft palates. Despite reduced sterol concentrations in Dhcr7–/– mice, mRNA levels for 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, the rate-controlling enzyme for sterol biosynthesis, the LDL receptor, and SREBP-2 appeared neither elevated nor repressed. In contrast to mRNA, protein levels and activities of HMG-CoA reductase were markedly reduced. Consistent with this finding, 7-dehydrocholesterol accelerates proteolysis of HMG-CoA reductase while sparing other key proteins. These results demonstrate that in mice without Dhcr7 activity, accumulated 7-dehydrocholesterol suppresses sterol biosynthesis posttranslationally. This effect might exacerbate abnormal development in SLOS by increasing the fetal cholesterol deficiency. PMID:11560960

  17. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.

    PubMed

    Ying, Lee; Matabosch, Xavier; Serra, Montserrat; Watson, Berna; Shackleton, Cedric; Watson, Gordon

    2014-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLOS is caused by a defect in a single gene, restoring enzyme functionality through gene therapy may be a direct approach for treating this debilitating disorder. In the present study, we first packaged a human DHCR7 construct into adeno-associated virus (AAV) vectors having either type-2 (AAV2) or type-8 (AAV2/8) capsid, and administered treatment to juvenile mice. While a positive response (assessed by increases in serum and liver cholesterol) was seen in both groups, the improvement was greater in the AAV2/8-DHCR7 treated mice. Newborn mice were then treated with AAV2/8-DHCR7 and these mice, compared to mice treated as juveniles, showed higher DHCR7 mRNA expression in liver and a greater improvement in serum and liver cholesterol levels. Systemic treatment did not affect brain cholesterol in any of the experimental groups. Both juvenile and newborn treatments with AAV2/8-DHCR7 resulted in increased rates of weight gain indicating that gene transfer had a positive physiological effect. PMID:25024934

  18. Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Xu, Libin; Liu, Wei; Sheflin, Lowell G.; Fliesler, Steven J.; Porter, Ned A.

    2011-01-01

    Treatment of Sprague-Dawley rats with AY9944, an inhibitor of 3?-hydroxysterol-?7-reductase (Dhcr7), leads to elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in all biological tissues, mimicking the key biochemical hallmark of Smith-Lemli-Opitz syndrome (SLOS). Fourteen 7-DHC-derived oxysterols previously have been identified as products of free radical oxidation in vitro; one of these oxysterols, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), was recently identified in Dhcr7-deficient cells and in brain tissues of Dhcr7-null mouse. We report here the isolation and characterization of three novel 7-DHC-derived oxysterols (4?- and 4?-hydroxy-7-DHC and 24-hydroxy-7-DHC) in addition to DHCEO and 7-ketocholesterol (7-kChol) from the brain tissues of AY9944-treated rats. The identities of these five oxysterols were elucidated by HPLC-ultraviolet (UV), HPLC-MS, and 1D- and 2D-NMR. Quantification of 4?- and 4?-hydroxy-7-DHC, DHCEO, and 7-kChol in rat brain, liver, and serum were carried out by HPLC-MS using d7-DHCEO as an internal standard. With the exception of 7-kChol, these oxysterols were present only in tissues of AY9944-treated, but not control rats, and 7-kChol levels were markedly (>10-fold) higher in treated versus control rats. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the pathogenesis of SLOS.—. PMID:21817059

  19. Treatments for Smith-Lemli-Opitz Syndrome and Other Disorders of Cholesterol Biosynthesis

    Cancer.gov

    The National Institute of Child Health and Human Development, Section Molecular Dysmorphology is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize therapeutics that inhibit sphingolipid biosynthesis.

  20. 75 FR 41501 - Government-Owned Inventions; Availability for Licensing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-16

    ...Smith-Lemli-Opitz Syndrome and Other Disorders of Cholesterol Biosynthesis Description of Invention...Smith-Lemli-Opitz Syndrome and other disorders of cholesterol biosynthesis. Smith-Lemli-Opitz...disorder caused by an inborn error of cholesterol biosynthesis. It affects an...

  1. Methods of diagnosing alagille syndrome

    DOEpatents

    Li, Linheng; Hood, Leroy; Krantz, Ian D.; Spinner, Nancy B.

    2004-03-09

    The present invention provides an isolated polypeptide exhibiting substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the polypeptide does not have the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. The invention further provides an isolated nucleic acid molecule containing a nucleotide sequence encoding substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the nucleotide sequence does not encode the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. Also provided herein is a method of inhibiting differentiation of hematopoietic progenitor cells by contacting the progenitor cells with an isolated JAGGED polypeptide, or active fragment thereof. The invention additionally provides a method of diagnosing Alagille Syndrome in an individual. The method consists of detecting an Alagille Syndrome disease-associated mutation linked to a JAGGED locus.

  2. Diagnosing the tight building syndrome

    SciTech Connect

    Rogers, S.A.

    1987-12-01

    Formaldehyde is but one of many chemicals capable of causing the tight building syndrome or environmentally induced illness (EI). The spectrum of symptoms it may induce includes attacks of headache, flushing, laryngitis, dizziness, nausea, extreme weakness, arthralgia, unwarranted depression, dysphonia, exhaustion, inability to think clearly, arrhythmia or muscle spasms. The nonspecificity of such symptoms can baffle physicians from many specialties. Presented herein is a simple office method for demonstrating that formaldehyde is among the etiologic agents triggering these symptoms. The very symptoms that patients complain of can be provoked within minutes, and subsequently abolished, with an intradermal injection of the appropriate strength of formaldehyde. This injection aids in convincing the patient of the cause of the symptoms so he can initiate measure to bring his disease under control.

  3. How Do Health Care Providers Diagnose Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Cushing’s syndrome? Skip sharing on social ... easily recognized when it is fully developed, but health care providers try to diagnose and treat it well ...

  4. How Do Health Care Providers Diagnose Rett Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Rett syndrome? Skip sharing on social ... Rett syndrome may not always be present, so health care providers also need to evaluate the child's symptoms ...

  5. How Do Health Care Providers Diagnose Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Down syndrome? Skip sharing on social media links Share this: Page Content Health care providers can check for Down syndrome during pregnancy ...

  6. How Do Health Care Providers Diagnose Turner Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Turner syndrome? Skip sharing on social media links Share this: Page Content Health care providers use a combination of physical symptoms and ...

  7. How Do Health Care Providers Diagnose Klinefelter Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Klinefelter syndrome (KS)? Skip sharing on ... karyotype (pronounced care-EE-oh-type ) test. A health care provider will take a small blood or skin ...

  8. How Do Health Care Providers Diagnose Prader-Willi Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Prader-Willi syndrome (PWS)? Skip sharing ... a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi ...

  9. Diagnosing the tight building syndrome or diagnosing chemical hypersensitivity

    SciTech Connect

    Rogers, S.A. )

    1989-01-01

    The abrupt exposure to urea foam formaldehyde insulation served as an alert to its spectrum of symptoms, including attacks of headache, flushing, laryngitis, dizziness, nausea, extreme weakness or exhaustion, arthralgia, an inability to concentrate, unwarranted depression, arrhythmia, or muscle spasms, and baffled physicians from many specialties. Later it was learned that toluene, xylene, benzene, natural gas, trichloroethylene, and many other chemicals were also capable of triggering chemical hypersensitivity. Other names for this condition include Environmentally Induced Illness (EI), the Tight Building Syndrome (TBS), the Sick Building Syndrome, and Building-Related Illness. The very symptoms patients complain of can be provoked within minutes and then subsequently alleviated with an intradermal injection of the appropriate strength of the triggering chemical. This technique aids in convincing the patient of the EI or TBS triggers so that the patient can begin to relate symptoms to environmental exposures and initiate measure to bring the disease under control. The key to safer buildings is increased ventilation, increased filtration of air, and decreased use of off-gassing synthetic materials.

  10. Myopericarditis in acquired immunodeficiency syndrome diagnosed by gallium scintigraphy

    SciTech Connect

    Cregler, L.L.; Sosa, I.; Ducey, S.; Abbey, L. )

    1990-07-01

    Myocarditis is among the cardiac complications of acquired immunodeficiency syndrome and, yet, is often not discovered until autopsy. Gallium scintigraphy has been employed in diagnosing this entity, but few data are available about its diagnostic accuracy and value. Here, the authors report two cases of myopericarditis as diagnosed by gallium scan.

  11. Advances in Tourette syndrome: diagnoses and treatment.

    PubMed

    Serajee, Fatema J; Mahbubul Huq, A H M

    2015-06-01

    Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions. PMID:26022170

  12. Diagnosing dementia in adults with Down's syndrome.

    PubMed

    Prasher, Vee P; Sachdeva, Niyati; Tarrant, Nick

    2015-01-01

    Individuals with Down's syndrome (DS) are living longer and many will survive into their fifth or sixth decade of life. Among the DS population, the prevalence of dementia in Alzheimer's disease increases from 9.4% in age group 30-39 years to 54.5% age group 60-69 years. The psychopathology of dementia in Alzheimer's disease is similar to that seen in the general population although differences are apparent due to the underlying intellectual disability in DS and on the reliance on collateral information from informants. The diagnostic workup follows accepted practice although neuropsychological tests and neuroimaging will only be adjuncts to the clinical assessment; such investigations have limited diagnostic value. Presently, research is focused on identifying genetic and biological measures of Alzheimer's disease in DS. PMID:26107323

  13. Impaired Sertoli cell function in males diagnosed with Noonan syndrome.

    PubMed

    Marcus, K A; Sweep, C G J; van der Burgt, I; Noordam, C

    2008-11-01

    In order to study male gonadal function in Noonan syndrome, clinical and laboratory data, including inhibin B, were gathered in nine pubertal males diagnosed with Noonan syndrome. Bilateral testicular maldescent was observed in four, and unilateral cryptorchidism occurred in two. Puberty was delayed in three patients. Luteinising hormone (LH) levels were normal in all patients in our series, while follicle stimulating hormone (FSH) levels were raised in seven. Inhibin B was low in six males and just above the lower limit of normal in two. Importantly, all three men with normal testicular descent displayed signs of Sertoli cell dysfunction, indicating, in contrast to earlier reports, that bilateral cryptorchidism does not seem to be the main contributing factor to impairment of testicular function in Noonan syndrome. These findings suggest different mechanisms of disturbance in male gonadal function, which is frequently associated with Sertoli dysfunction. PMID:19189703

  14. Paget-Schroetter syndrome forerunning the diagnoses of thoracic outlet syndrome and thrombophilia.

    PubMed

    Ozçakar, Levent; Dönmez, Gürhan; Yörübulut, Mehmet; Aydog, Sedat Tolga; Demirel, Haydar; Pasaoglu, Ilhan; Doral, Mahmut Nedim

    2010-06-01

    Reported here is a 22-year-old professional wrestler who was diagnosed to have Paget-Schroetter syndrome after Greco-Roman wrestling. On substantial neuromuscular examination and laboratory testing, he was found to have also thoracic outlet syndrome and heterozygous mutations for factor V Leiden and methyltetrahydrofolate reductase genes. To the best knowledge of the authors, the concomitance of these pathologies is discussed for the first time in the literature. PMID:19244272

  15. Analysis of Speech Properties of Neurotypicals and Individuals Diagnosed with Autism and Down Syndrome

    E-print Network

    individuals diagnosed with autism and Down syndrome have difficulties producing intelligible speech conversations between neurotypicals and individuals diagnosed with autism/Down-syndrome was used. Analyzing parameters in real time and get live feedback. General Terms Human Factors Keywords Autism, Down syndrome

  16. Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

    PubMed Central

    Haas, D; Morgenthaler, J; Lacbawan, F; Long, B; Runz, H; Garbade, S F; Zschocke, J; Kelley, R I; Okun, J G; Hoffmann, G F; Muenke, M

    2007-01-01

    Background Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The aetiology is heterogeneous and remains unexplained in approximately 75% of patients. Objective To examine cholesterol biosynthesis in lymphoblastoid cell lines of 228 patients with HPE, since perturbations of cholesterol homeostasis are an important model system to study HPE pathogenesis in animals. Methods An in vitro loading test that clearly identifies abnormal increase of C27 sterols in lymphoblast?derived cells was developed using [2?14C] acetate as substrate. Results 22 (9.6%) HPE cell lines had abnormal sterol pattern in the in vitro loading test. In one previously reported patient, Smith–Lemli–Opitz syndrome was diagnosed, whereas others also had clearly reduced cholesterol biosynthesis of uncertain cause. The mean (SD) cholesterol levels were 57% (15.3%) and 82% (4.7%) of total sterols in these cell lines and controls, respectively. The pattern of accumulating sterols was different from known defects of cholesterol biosynthesis. In six patients with abnormal lymphoblast cholesterol metabolism, additional mutations in genes known to be associated with HPE or chromosomal abnormalities were observed. Conclusions Impaired cholesterol biosynthesis may be a contributing factor in the cause of HPE and should be considered in the evaluation of causes of HPE, even if mutations in HPE?associated genes have already been found. PMID:17237122

  17. Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

    ERIC Educational Resources Information Center

    Vernon, McCay

    1982-01-01

    The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

  18. How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose preeclampsia, eclampsia, and HELLP syndrome? Skip ... social media links Share this: Page Content A health care provider should check a pregnant woman's blood pressure ...

  19. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    PubMed Central

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  20. A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome.

    PubMed

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  1. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  2. Motor Abilities of Children Diagnosed with Fragile X Syndrome with and without Autism

    ERIC Educational Resources Information Center

    Zingerevich, C.; Greiss-Hess, L.; Lemons-Chitwood, K.; Harris, S. W.; Hessl, D.; Cook, K.; Hagerman, Randi J.

    2009-01-01

    Background: Previous studies suggested that children diagnosed with fragile X syndrome (FXS) often meet criteria for autism or PDD. This study describes the fine motor abilities of children diagnosed with FXS with and without autism spectrum disorder, and compares the motor scores of those groups controlling for cognitive level. Method:…

  3. Fathers' Experiences after Their Child Has Been Diagnosed with Down Syndrome: A Phenomenological Study

    ERIC Educational Resources Information Center

    Fleming, Sherry A.

    2013-01-01

    Expectant parents often unknowingly assume that they will give birth to a healthy child without complications. The postnatal diagnosis of a disability such as Down syndrome is often a stressful, unexpected, and surprising event (Gilmore & Cuskelly, 2012; Shur, Marion, & Gross, 2006). Down syndrome is the most common birth defect diagnosed

  4. How Do Health Care Providers Diagnose Polycystic Ovary Syndrome (PCOS)?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose PCOS? Skip sharing on social media links Share this: Page Content Your health care provider may suspect PCOS if you have eight ...

  5. Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions

    ERIC Educational Resources Information Center

    Nieuwenhuis-Mark, Ruth E.

    2009-01-01

    It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

  6. Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

    ERIC Educational Resources Information Center

    Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr.

    2010-01-01

    A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…

  7. BORDERLINE PERSONALITY DISORDER IN THE MEDICAL SETTING: Suggestive Behaviors, Syndromes, and Diagnoses.

    PubMed

    Sansone, Randy A; Sansone, Lori A

    2015-01-01

    Borderline personality disorder is a personality dysfunction that is characterized by disinhibition and impulsivity, which oftentimes manifest as self-regulation difficulties. Patients with this disorder have always been present in medical settings, but have been described as "difficult patients" rather than patients with borderline personality disorder. According to empirical findings, a number of behaviors and medical syndromes/diagnoses are suggestive of borderline personality disorder. Suggestive behaviors in the medical setting may include aggressive or disruptive behaviors, the intentional sabotage of medical care, and excessive healthcare utilization. Suggestive medical syndromes and diagnoses in the medical setting may include alcohol and substance misuse (including the abuse of prescription medications), multiple somatic complaints, chronic pain, obesity, sexual impulsivity, and hair pulling. While not all-inclusive or diagnostic, these behaviors and syndromes/diagnoses may invite further clinical evaluation of the patient for borderline personality disorder. PMID:26351624

  8. PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome.

    PubMed

    Infante, Jose R; Garcia, Lucia; Rayo, Juan I; Serrano, Justo; Dominguez, Maria L; Moreno, Manuel

    2016-01-01

    The Dandy-Walker syndrome (DWS) is a rare congenital posterior fossa malformation characterized by aplasia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. We present a 52-year-old Caucasian man diagnosed with gastrointestinal stromal tumor and submitted to F-FDG PET/CT as a staging procedure. The patient was previously diagnosed with DWS in brain CT scan. PET/CT images revealed an ametabolic large cyst in the posterior fossa and hypoplasia of cerebellar vermis. The case is presented with the aim to show the appearance of this syndrome on PET/CT study. PMID:26053730

  9. A comprehensive approach in diagnosing the polycystic ovary syndrome.

    PubMed

    Pasquali, Renato; Gambineri, Alessandra

    2015-07-01

    The polycystic ovary syndrome is the commonest hyperandrogenic and dysmetabolic disorder in women that, by definition, may present with different phenotypes, including the classic forms and those with a milder presentation. Its diagnosis is mainly based on careful clinical judgment, although it may require additional investigation by blood testing or imaging techniques in the differential diagnosis of androgen excess. This article summarizes the most important aspects of the diagnostic procedure and suggests how to apply them in clinical practice. PMID:25756387

  10. Bowhunter's syndrome diagnosed with provocative digital subtraction cerebral angiography

    PubMed Central

    Vandergriff, Clayton L.; Opatowsky, Michael J.; Layton, Kennith F.

    2012-01-01

    Bowhunter's syndrome, also known as rotational occlusion of the vertebral artery, involves posterior circulation ischemia resulting from dynamic compromise of the dominant vertebral artery. This case highlights the importance of provocative digital subtraction angiography in making the diagnosis. A 41-year-old man presented for outpatient neurological evaluation for “lightheadedness” of several years' duration provoked by leftward head rotation. The only abnormality identified on initial magnetic resonance angiography was atresia of the nondominant left vertebral artery. Conventional digital subtraction angiography (DSA) followed by provocative DSA revealed development of a dynamic stenosis of the right vertebral artery involving the extraforaminal segment just superior to the C1 vertebra. Noncontrast computed tomography of the cervical spine confirmed ossification of the posterior right atlanto-occipital membrane leading to a near complete bony arcuate foramen. Following neurosurgical decompression, the patient demonstrated complete resolution of all neurologic symptoms. Bowhunter's syndrome is a unique clinical entity that must be considered in the evaluation of patients with symptoms of posterior circulation ischemia. Provocative DSA remains the preferred modality for definitive diagnosis. PMID:22275779

  11. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    ERIC Educational Resources Information Center

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  12. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    ERIC Educational Resources Information Center

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  13. Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI

    NASA Astrophysics Data System (ADS)

    Xu, Libin; Kliman, Michal; Forsythe, Jay G.; Korade, Zeljka; Hmelo, Anthony B.; Porter, Ned A.; McLean, John A.

    2015-06-01

    Profiling and imaging of cholesterol and its precursors by mass spectrometry (MS) are important in a number of cholesterol biosynthesis disorders, such as in Smith-Lemli-Opitz syndrome (SLOS), where 7-dehydrocholesterol (7-DHC) is accumulated in affected individuals. SLOS is caused by defects in the enzyme that reduces 7-DHC to cholesterol. However, analysis of sterols is challenging because these hydrophobic olefins are difficult to ionize for MS detection. We report here sputtered silver matrix-assisted laser desorption/ionization (MALDI)-ion mobility-MS (IM-MS) analysis of cholesterol and 7-DHC. In comparison with liquid-based AgNO3 and colloidal Ag nanoparticle (AgNP), sputtered silver NP (10-25 nm) provided the lowest limits-of-detection based on the silver coordinated [cholesterol + Ag]+ and [7-DHC + Ag]+ signals while minimizing dehydrogenation products ([M + Ag-2H]+). When analyzing human fibroblasts that were directly grown on poly-L-lysine-coated ITO glass plates with this technique, in situ, the 7-DHC/cholesterol ratios for both control and SLOS human fibroblasts are readily obtained. The m/z of 491 (specific for [7-DHC + 107Ag]+) and 495 (specific for [cholesterol + 109Ag]+) were subsequently imaged using MALDI-IM-MS. MS images were co-registered with optical images of the cells for metabolic ratio determination. From these comparisons, ratios of 7-DHC/cholesterol for SLOS human fibroblasts are distinctly higher than in control human fibroblasts. Thus, this strategy demonstrates the utility for diagnosing/assaying the severity of cholesterol biosynthesis disorders in vitro.

  14. Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI.

    PubMed

    Xu, Libin; Kliman, Michal; Forsythe, Jay G; Korade, Zeljka; Hmelo, Anthony B; Porter, Ned A; McLean, John A

    2015-06-01

    Profiling and imaging of cholesterol and its precursors by mass spectrometry (MS) are important in a number of cholesterol biosynthesis disorders, such as in Smith-Lemli-Opitz syndrome (SLOS), where 7-dehydrocholesterol (7-DHC) is accumulated in affected individuals. SLOS is caused by defects in the enzyme that reduces 7-DHC to cholesterol. However, analysis of sterols is challenging because these hydrophobic olefins are difficult to ionize for MS detection. We report here sputtered silver matrix-assisted laser desorption/ionization (MALDI)-ion mobility-MS (IM-MS) analysis of cholesterol and 7-DHC. In comparison with liquid-based AgNO3 and colloidal Ag nanoparticle (AgNP), sputtered silver NP (10-25 nm) provided the lowest limits-of-detection based on the silver coordinated [cholesterol?+?Ag](+) and [7-DHC?+?Ag](+) signals while minimizing dehydrogenation products ([M?+?Ag-2H](+)). When analyzing human fibroblasts that were directly grown on poly-L-lysine-coated ITO glass plates with this technique, in situ, the 7-DHC/cholesterol ratios for both control and SLOS human fibroblasts are readily obtained. The m/z of 491 (specific for [7-DHC?+?(107)Ag](+)) and 495 (specific for [cholesterol?+?(109)Ag](+)) were subsequently imaged using MALDI-IM-MS. MS images were co-registered with optical images of the cells for metabolic ratio determination. From these comparisons, ratios of 7-DHC/cholesterol for SLOS human fibroblasts are distinctly higher than in control human fibroblasts. Thus, this strategy demonstrates the utility for diagnosing/assaying the severity of cholesterol biosynthesis disorders in vitro. PMID:25822928

  15. Chronic fatigue syndrome 5 years after giardiasis: differential diagnoses, characteristics and natural course

    PubMed Central

    2013-01-01

    Background A high prevalence of chronic fatigue has previously been reported following giardiasis after a large waterborne outbreak in Bergen, Norway in 2004. The aim of this study was to describe and evaluate differential diagnoses and natural course of fatigue five years after giardiasis among patients who reported chronic fatigue three years after the infection. Methods Patients who three years after Giardia infection met Chalder’s criteria for chronic fatigue (n=347) in a questionnaire study among all patients who had laboratory confirmed giardiasis during the Bergen outbreak (n=1252) were invited to participate in this study five years after the infection (n=253). Structured interviews and clinical examination were performed by specialists in psychiatry, neurology and internal medicine/infectious diseases. Fukuda et al’s 1994 criteria were used to diagnose chronic fatigue syndrome (CFS) and idiopathic chronic fatigue (ICF). Self-reported fatigue recorded with Chalder Fatigue Questionnaire three and five years after infection were compared. Results 53 patients were included. CFS was diagnosed in 41.5% (22/53) and ICF in 13.2% (7/53). Chronic fatigue caused by other aetiology was diagnosed in 24.5% (13/53); five of these patients had sleep apnoea/hypopnoea syndrome, six had depression and five anxiety disorder, and among these two had more than one diagnosis. Fatigue had resolved in 20.8% (11/53). Self-reported fatigue score in the cohort was significantly reduced at five years compared to three years (p<0.001). Conclusion The study shows that Giardia duodenalis may induce CFS persisting as long as five years after the infection. Obstructive sleep apnoea/hypopnoea syndrome, depression and anxiety were important differential diagnoses, or possibly comorbidities, to post-infectious fatigue in this study. Improvement of chronic fatigue in the period from three to five years after giardiasis was found. PMID:23399438

  16. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

    PubMed

    Lessel, Davor; Hisama, Fuki M; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A; Steele, Pamela D; Baldwin, Jennifer; Brown, W Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Högel, Josef; Martin, George M; Herr, Alan J; Oshima, Junko; Kubisch, Christian

    2015-11-01

    Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%-15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome. PMID:26172944

  17. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    PubMed Central

    Lessel, Davor; Hisama, Fuki M.; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A.; Steele, Pamela D.; Baldwin, Jennifer; Brown, W. Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Hoögel, Josef; Martin, George M.; Herr, Alan J.; Oshima, Junko; Kubisch, Christian

    2015-01-01

    Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%–15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome. PMID:26172944

  18. A disease difficult to diagnose: Gardner-Diamond syndrome accompanied by platelet dysfunction

    PubMed Central

    Karaka?, Zeynep; Karaman, Serap; Avc?, Burcu; Ünüvar, Ay?egül; Öztürk, Gülyüz; Anak, Sema; Devecio?lu, Ömer

    2014-01-01

    Gardner Diamond syndrome is a rare condition characterized with painful ecchymoses in different parts of the body and cutaneous and mucosal hemorrhages. The etiology is not known fully and psychogenic factors are thought to be involved. Cutaneous lesions and hemorrhages develop mostly following emotional stress and rarely minor traumas and may recur. Although the extremities are involved with the highest rate, the lesions may be observed in any part of the body. Hemostatic tests are generally normal. The majority of the subjects is composed of young women. It is observed more rarely in men and children. In this article, a patient who presented with recurring painful echymoses and bleeding disorder and diagnosed with Gardner Diamond syndrome by intracutaneous injection of autologous blood was presented to emphasize that this syndrome is observed rarely in the childhood and should be considered not only in the differential diagnosis of cutaneous lesions, but also in the differential diagnosis of various system hemorrhages. PMID:26078671

  19. A disease difficult to diagnose: Gardner-Diamond syndrome accompanied by platelet dysfunction.

    PubMed

    Karaka?, Zeynep; Karaman, Serap; Avc?, Burcu; Ünüvar, Ay?egül; Öztürk, Gülyüz; Anak, Sema; Devecio?lu, Ömer

    2014-09-01

    Gardner Diamond syndrome is a rare condition characterized with painful ecchymoses in different parts of the body and cutaneous and mucosal hemorrhages. The etiology is not known fully and psychogenic factors are thought to be involved. Cutaneous lesions and hemorrhages develop mostly following emotional stress and rarely minor traumas and may recur. Although the extremities are involved with the highest rate, the lesions may be observed in any part of the body. Hemostatic tests are generally normal. The majority of the subjects is composed of young women. It is observed more rarely in men and children. In this article, a patient who presented with recurring painful echymoses and bleeding disorder and diagnosed with Gardner Diamond syndrome by intracutaneous injection of autologous blood was presented to emphasize that this syndrome is observed rarely in the childhood and should be considered not only in the differential diagnosis of cutaneous lesions, but also in the differential diagnosis of various system hemorrhages. PMID:26078671

  20. Pregnancy complicated with Alport syndrome: a good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence staining.

    PubMed

    Matsubara, Shigeki; Ueda, Yoshihiko; Takahashi, Hisako; Nagai, Takashi; Kuwata, Tomoyuki; Muto, Shigeaki; Yamaguchi, Takehiko; Takizawa, Toshihiro; Suzuki, Mitsuaki

    2009-12-01

    Alport syndrome is a familial progressive nephritis. The most frequent type is X-linked Alport syndrome, caused by genetic abnormalities in the alpha 5 chain of type IV collagen. Skin biopsy is a useful tool for diagnosing this disease. It is not well known how this syndrome affects pregnancy and how it is affected by pregnancy, or whether the umbilical cord may provide material for detecting this collagen abnormality. We report a primigravida with Alport syndrome with mild proteinuria who gave birth abdominally to a term male infant without deteriorating renal function during pregnancy. The umbilical cord from not only this infant but also from an Alport (-) control infant showed negative immunofluorescence staining for the alpha 5 chain of type IV collagen. Women with Alport syndrome without renal dysfunction may follow an uneventful obstetrical course until term. The cord may not be suitable for diagnosing Alport syndrome with immunofluorescence staining. PMID:20144175

  1. [Spontaneus ductal closure in a fetus postnatally diagnosed as Adams-Olivier syndrome].

    PubMed

    W?och, Agata; Borowski, Dariusz; Czuba, Bartosz; W?och, Stanis?aw; Sodowski, Krzysztof

    2006-08-01

    In utero isolated ductal closure is uncommon and can lead to congestive heart failure, fetal hydrops and death if not recognized. A case report of premature spontaneus ductal closure in the third trimester of pregnancy in a fetus postnatally diagnosed as Adams-Olivier Syndrome is presented. On ultrasound examination an intrauterine growth restriction, defects of bones of hands and feet as well as ventriculomegaly were found. No nonsteroid drug treatment during pregnancy was applied. Fetal echocardiography was performed following an abnormal four-chamber view. Premature ductal closure was diagnosed. Fetal echocardiogram showed absent flow in the ductus arteriosus, dilated right ventricle with decreased function, and moderate tricuspid and pulmonary valve insufficiency with no signs of fetal hydrops. An elective cesarean section was performed. All abnormalities observed on former echocardiogram exam withdrew within 3 months of infant's life. The infant stays in the tertiary care centre due to the extracardiac malformations. PMID:17076195

  2. Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses.

    PubMed

    Darrow, Sabrina M; Illmann, Cornelia; Gauvin, Caitlin; Osiecki, Lisa; Egan, Crystelle A; Greenberg, Erica; Eckfield, Monika; Hirschtritt, Matthew E; Pauls, David L; Batterson, James R; Berlin, Cheston M; Malaty, Irene A; Woods, Douglas W; Scharf, Jeremiah M; Mathews, Carol A

    2015-08-30

    Collecting phenotypic data necessary for genetic analyses of neuropsychiatric disorders is time consuming and costly. Development of web-based phenotype assessments would greatly improve the efficiency and cost-effectiveness of genetic research. However, evaluating the reliability of this approach compared to standard, in-depth clinical interviews is essential. The current study replicates and extends a preliminary report on the utility of a web-based screen for Tourette Syndrome (TS) and common comorbid diagnoses (obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD)). A subset of individuals who completed a web-based phenotyping assessment for a TS genetic study was invited to participate in semi-structured diagnostic clinical interviews. The data from these interviews were used to determine participants' diagnostic status for TS, OCD, and ADHD using best estimate procedures, which then served as the gold standard to compare diagnoses assigned using web-based screen data. The results show high rates of agreement for TS. Kappas for OCD and ADHD diagnoses were also high and together demonstrate the utility of this self-report data in comparison previous diagnoses from clinicians and dimensional assessment methods. PMID:26054936

  3. Liver disease among children in Hawai'i diagnosed with metabolic syndrome.

    PubMed

    St-Jules, David E; Watters, Corilee A; Davis, James; Waxman, Sorrell H

    2013-05-01

    The purpose of this study was to evaluate the prevalence of and factors related to liver disease among children in Hawai'i with metabolic syndrome. The medical charts of children diagnosed with metabolic syndrome by an outpatient endocrinologist between January 2000 and December 2010 were reviewed. Liver disease prevalence was estimated based on serum alanine aminotransferase (ALT) levels, which were then assessed for associations with demographic (age, gender, ethnicity), anthropometric (body mass index), biochemical (fasting blood glucose, hemoglobin A1c, triglycerides, and total, LDL- and HDL-cholesterol), and clinical (blood pressure) characteristics of subjects. Serum ALT was available for 167 of the 195 subjects. The proportion of subjects with liver disease (105/167 [63%]) was greater than many traditional features of metabolic syndrome including hypertriglyceridemia (73/177 [41%]), hypertension (37/194 [19%]) and hyperglycemia (37/170 [22%]). Serum ALT values were positively associated with age (P=.030), and liver disease was more common among boys than girls (62/91 [68%] vs 43/76 [57%]), although this difference was not statistically significant (P=.123). There was a significant difference in liver disease across ethnicities (P=.029), and appeared to be more common in children with Pacific Islander surnames (14/16 [88%]), and less common in children with Hispanic surnames (7/20 [35%]). Diastolic blood pressure was the only obesity-related disease parameter associated with serum ALT after adjusting for age and gender (P=.018). In conclusion, liver disease was common among children diagnosed with metabolic syndrome in Hawai'i. Age, gender, and ethnicity may be important determinants of liver disease risk, and should be investigated further. PMID:23795321

  4. Rapid or Normal Gastric Emptying as New Supportive Criteria for Diagnosing Cyclic Vomiting Syndrome in Adults

    PubMed Central

    Cooper, Chad J.; Said, Sarmad; Bizet, Jorge; Alkhateeb, Haider; Sarosiek, Irene; McCallum, Richard W.

    2014-01-01

    Background Cyclic vomiting syndrome (CVS) in adults is a disorder characterized by recurrent and stereotypic episodes of severe nausea, vomiting and abdominal pain separated by symptom-free intervals. Our goal was to investigate gastric emptying (GE) in CVS patients. Material/Methods This was a retrospective study of 30 adult patients who met Rome III diagnostic criteria for CVS. Rapid GE was defined using two different predefined criteria as either <50% isotope retention or <65% isotope retention at 1st hour and/or <20% at 2nd hour. Results Of the 30 patients (25 had 4-hr GE) diagnosed with CVS, 22 were females and 8 males with a mean age of 39 years. Overall, 20 (80%) of the 25 CVS patients met the predefined criteria of <50% retention for rapid GE in the first hour. Fifteen (60%) met the 2-hour criteria for rapid emptying of <20% retention. Five (16.6%) patients of the 25 had a normal GE with a mean retention at the first hour of 65% (52–78%). Nine (36%) also met another predefined criteria of <35% retention for rapid GE in the first hour. Sixteen (64%) met criteria for normal GE. Conclusions (1) In adult CVS patients, GE is either rapid or normal, clearly distinguishing this entity from gastroparesis. (2) Cyclic vomiting syndrome is an important new etiology to explain the finding of rapid GE on a radionuclide test. (3) We suggest that rapid gastric emptying should be added as supportive criteria for diagnosing CVS in adults. PMID:25145650

  5. Feasibility of diagnosing unstable plaque in patients with acute coronary syndrome using iMap-IVUS*

    PubMed Central

    LIU, Jian; WANG, Zhao; WANG, Wei-min; LI, Qi; MA, Yu-liang; LIU, Chuan-fen; LU, Ming-yu; ZHAO, Hong

    2015-01-01

    Objective: To compare the plaque composition between stable and unstable plaques, characterize unstable plaque by using iMap-intravascular ultrasound (IVUS), and quantify the diagnostic criteria for unstable plaque. Methods: Thirty-three acute coronary syndrome (ACS) patients who had undergone coronary angiography and IVUS from February 19, 2014 to December 19, 2014 at Peking University People’s Hospital were enrolled in the study. Baseline data were collected. The patients were divided into two groups according to their gray-scale IVUS imaging, stable plaque and unstable plaque. A difference-in-difference evaluation was performed using the baseline data and off-line iMap imaging results between the two groups. A receiver operating characteristic (ROC) curve was constructed to obtain the optimal cut-off value to diagnose unstable plaque. Results: Percentages of fibrotic and necrotic tissues, absolute values of lipidic, necrotic, and calcified tissues, and plaque burden were independent predictors for unstable plaque. Absolute necrotic area was the best predictor and exhibited the highest diagnostic value for plaque vulnerability (area under the curve (AUC)=0.806, P=0.000, 95% CI (0.718, 0.894)). The cut-off score for predicting unstable plaque was 4.0 mm2. Conclusions: This study attempted to propose a cut-off value based on absolute necrotic area using iMap-IVUS to predict plaque vulnerability in patients with ACS. This score might provide a valuable reference for diagnosing unstable plaque. PMID:26537210

  6. A Language Programme to Increase the Verbal Production of a Child Dually Diagnosed with Down Syndrome and Autism

    ERIC Educational Resources Information Center

    Kroeger, K. A.; Nelson, W. M., III

    2006-01-01

    Background: The incidence of children dually diagnosed with Down syndrome and autism is estimated to be as high as 11%. There is a paucity of research investigating linguistic treatment interventions for such children. This single-subject experiment examined a programme designed to increase the language production and verbal behaviour of a…

  7. Asperger's Syndrome: A Comparison of Clinical Diagnoses and Those Made According to the ICD-10 and DSM-IV

    ERIC Educational Resources Information Center

    Woodbury-Smith, Marc; Klin, Ami; Volkmar, Fred

    2005-01-01

    The diagnostic criteria for Asperger Syndrome (AS) according to ICD-10 and DSM-IV have been criticized as being too narrow in view of the rules of onset and precedence, whereby autism takes precedence over AS in a diagnostic hierarchy. In order to investigate this further, cases from the DSM-IV multicenter study who had been diagnosed clinically…

  8. Ciliates learn to diagnose and correct classical error syndromes in mating strategies.

    PubMed

    Clark, Kevin B

    2013-01-01

    Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by "rivals" and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell-cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via "power" or "refrigeration" cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and non-modal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in social contexts. PMID:23966987

  9. Ciliates learn to diagnose and correct classical error syndromes in mating strategies

    PubMed Central

    Clark, Kevin B.

    2013-01-01

    Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by “rivals” and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell–cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via “power” or “refrigeration” cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and non-modal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in social contexts. PMID:23966987

  10. Rectal Cancer Diagnosed after Cesarean Section in Which High Microsatellite Instability Indicated the Presence of Lynch Syndrome

    PubMed Central

    Okuda, Tomohiro; Ishii, Hiroshi; Yamashita, Sadao; Matsuo, Seiki; Okimura, Hiroyuki

    2015-01-01

    We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5?cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient's family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer. PMID:26064726

  11. Role of salivary anti-SSA/B antibodies for diagnosing primary Sjögren’s syndrome

    PubMed Central

    Wei, Pan; Li, Chunlei; Qiang, Lu; He, Jing; Li, Zhanguo

    2015-01-01

    The diagnosis of primary Sjögren’s syndrome (pSS) is complex, and the saliva test is a potential method to improve the existing diagnostic criteria. Objective: To estimate the diagnostic accuracy of salivary anti-SSA/B antibodies in primary Sjögren’s syndrome (pSS), and to analyze their correlations with clinical and laboratory profiles. Study Design: This study enrolled 100 pSS patients and 140 non-pSS controls, including 40 rheumatoid arthritis (RA) patients, 40 systemic lupus erythematosus (SLE) patients, and 60 healthy controls. Unstimulated whole saliva and stimulated parotid saliva samples were collected from the subjects. Salivary anti-SSA/B antibodies were measured using an enzyme-linked immunosorbent assay (ELISA). Clinical and laboratory data were retrieved from the medical records. Results: In the pSS group, the sensitivity of anti-SSA and anti-SSB antibodies in whole saliva was 49% and 29%, respectively, and the specificity was 87.5% and 95%. The sensitivity of anti-SSA and anti-SSB antibodies in parotid saliva was 32% and 8%, respectively, and the specificity was 95.52% and 97.86%, respectively. In the pSS group, the diagnostic accuracy of anti-SSA/B antibodies in whole saliva was significantly higher than in parotid saliva (p<0.05), but was significantly lower than in serum (p<0.05). The salivary flow rate in the pSS group positive for whole salivary anti-SSA was significantly lower than in the negative group (p<0.05). The prevalence of rheumatoid factor and antinuclear factor were significantly higher in salivary SSB-positive pSS patients than in SSB-negative patients (p<0.05). Conclusions: Compared to parotid saliva, whole saliva is a more suitable diagnostic fluid. Using salivary anti-SSA/B antibodies as a single test item is insufficient given the relatively low sensitivity. Further studies should investigate the possibility of combining tests for different salivary autoantibodies as a method for diagnosing pSS. Key words:Primary Sjögren’s syndrome, salivary diagnostics, anti-SSA autoantibodies, anti-SSB autoantibodies. PMID:25475778

  12. Many individuals diagnosed with autism and Down syndrome have difficulties producing intelligible speech. Systematic analysis of their voice parameters could lead to better understanding of the specific challenges they face in achieving proper speech prod

    E-print Network

    1 Abstract Many individuals diagnosed with autism and Down syndrome have difficulties producing data from natural conversations between neuro-typicals and individuals diagnosed with autism/Down-syndrome Properties of Neurotypicals and Individuals Diagnosed with Autism and Down Syndrome Mohammed Ehsan Hoque

  13. Prevalence, severity and correlates of fatigue in newly diagnosed patients with myelodysplastic syndromes.

    PubMed

    Efficace, Fabio; Gaidano, Gianluca; Breccia, Massimo; Criscuolo, Marianna; Cottone, Francesco; Caocci, Giovanni; Bowen, David; Lübbert, Michael; Angelucci, Emanuele; Stauder, Reinhard; Selleslag, Dominik; Platzbecker, Uwe; Sanpaolo, Grazia; Jonasova, Anna; Buccisano, Francesco; Specchia, Giorgina; Palumbo, Giuseppe A; Niscola, Pasquale; Wan, Chonghua; Zhang, Huiyong; Fenu, Susanna; Klimek, Virginia; Beyne-Rauzy, Odile; Nguyen, Khanh; Mandelli, Franco

    2015-02-01

    The primary objective of this study was to investigate factors associated with fatigue severity in newly diagnosed patients with higher-risk myelodysplastic syndromes (MDS). The secondary objectives were to assess symptom prevalence and to examine the relationships between fatigue, quality of life (QoL) and overall symptom burden in these patients. The analyses were conducted in 280 higher-risk MDS patients. Pre-treatment patient-reported fatigue was evaluated with the Functional Assessment of Chronic Illness Therapy (FACIT)-Fatigue scale and QoL was assessed with the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30). Female gender (P = 0·018), poor performance status (i.e., ECOG of 2-4) (P < 0·001) and lower levels of haemoglobin (Hb) (P = 0·026) were independently associated with higher fatigue severity. The three most prevalent symptoms were as follows: fatigue (92%), dyspnoea (63%) and pain (55%). Patients with higher levels of fatigue also had greater overall symptom burdens. The mean global QoL scores of patients with the highest versus those with the lowest levels of fatigue were 29·2 [standard deviation (SD), 18·3] and 69·0 (SD, 18·8), respectively and this difference was four times the magnitude of a clinically meaningful difference. Patient-reported fatigue severity revealed the effects of disease burden on overall QoL more accurately than did degree of anaemia. Special attention should be given to the female patients in the management of fatigue. PMID:25272332

  14. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    PubMed Central

    Lacerda, Letícia da Silva; Alves, Úrsula David; Zanier, José Fernando Cardona; Machado, Dequitier Carvalho; Camilo, Gustavo Bittencourt; Lopes, Agnaldo José

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions. PMID:25009745

  15. Trends in Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register

    PubMed Central

    2009-01-01

    Objectives To describe trends in the numbers of Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008. Design and setting The National Down Syndrome Cytogenetic Register holds details of 26488 antenatal and postnatal diagnoses of Down’s syndrome made by all cytogenetic laboratories in England and Wales since 1989. Interventions Antenatal screening, diagnosis, and subsequent termination of Down’s syndrome pregnancies. Main outcome measures The number of live births with Down’s syndrome. Results Despite the number of births in 1989/90 being similar to that in 2007/8, antenatal and postnatal diagnoses of Down’s syndrome increased by 71% (from 1075 in 1989/90 to 1843 in 2007/8). However, numbers of live births with Down’s syndrome fell by 1% (752 to 743; 1.10 to 1.08 per 1000 births) because of antenatal screening and subsequent terminations. In the absence of such screening, numbers of live births with Down’s syndrome would have increased by 48% (from 959 to 1422), since couples are starting families at an older age. Among mothers aged 37 years and older, a consistent 70% of affected pregnancies were diagnosed antenatally. In younger mothers, the proportions of pregnancies diagnosed antenatally increased from 3% to 43% owing to improvements in the availability and sensitivity of screening tests. Conclusions Since 1989, expansion of and improvements in antenatal screening have offset an increase in Down’s syndrome resulting from rising maternal age. The proportion of antenatal diagnoses has increased most strikingly in younger women, whereas that in older women has stayed relatively constant. This trend suggests that, even with future improvements in screening, a large number of births with Down’s syndrome are still likely, and that monitoring of the numbers of babies born with Down’s syndrome is essential to ensure adequate provision for their needs. PMID:19858532

  16. Making Sense of the Cytokine Storm: a conceptual framework for understanding, diagnosing and treating hemophagocytic syndromes

    PubMed Central

    Canna, Scott W.

    2012-01-01

    SYNOPSIS Cytokine Storm Syndromes (CSS) are a group of disorders representing a variety of inflammatory etiologies with the final common result of overwhelming systemic inflammation, hemodynamic instability, multiple organ dysfunction, and potentially death. The hemophagocytic syndromes hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) represent two clinically similar CSS with an unknown degree of pathoetiologic overlap. The clinical presentations of all CSS can be strikingly similar, creating diagnostic uncertainty. However, clinicians should avoid the temptation to treat all CSS equally, as their inciting inflammatory insults vary widely. Failure to identify and address this underlying trigger will result in delayed, inoptimal, or potentially harmful consequences. This review endeavors to place the hemophagocytic syndromes HLH and MAS within a conceptual model of CSS, and thus provide a logical framework for diagnosis and treatment of CSS of suspected rheumatic origin. PMID:22560573

  17. POEMS Syndrome in a Juvenile Initially Diagnosed as Treatment Resistant Chronic Inflammatory Demyelinating Polyneuropathy.

    PubMed

    Krish, Sonia N; Nguyen, Thy; Biliciler, Suur; Kumaravel, Manickam; Wahed, Amer; Risin, Semyon; Sheikh, Kazim A

    2015-12-01

    POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a disorder that mainly affects adults. We report a pediatric patient, initially considered to have Guillain-Barré syndrome, who continued to have progression of neuropathic disease leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy. Diagnosis of POEMS was established by an abnormal bone marrow biopsy, prompted by laboratory and imaging findings, which became abnormal later in the course of the disease. POEMS syndrome is extremely rare in children, and neuropathic features in this age group have not been previously described. This case illustrates that "Guillain-Barré syndrome-like" initial presentation for POEMS, which has not been previously reported. It also emphasizes that in children with progressive acquired neuropathies that are treatment unresponsive, POEMS syndrome should be considered. PMID:26583497

  18. Idarubicin, Cytarabine, and Tipifarnib in Treating Patients With Newly Diagnosed Myelodysplastic Syndromes or Acute Myeloid Leukemia

    ClinicalTrials.gov

    2014-05-09

    Adult Acute Basophilic Leukemia; Adult Acute Eosinophilic Leukemia; Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Erythroleukemia (M6a); Adult Pure Erythroid Leukemia (M6b); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

  19. Normal for an Asperger: Notions of the Meanings of Diagnoses among Adults with Asperger Syndrome

    ERIC Educational Resources Information Center

    Rosqvist, Hanna Bertilsdotter

    2012-01-01

    This study explores the production of a counterhegemonic discourse of "autistic normalcy" among adults with high-functioning autism by analyzing notions of diagnosis. The discourse analyses are based on material from ethnographic fieldwork in a Swedish educational setting. Study participants were 3 male and 9 female adults who had been diagnosed

  20. Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

    ERIC Educational Resources Information Center

    Centers for Disease Control and Prevention, 2009

    2009-01-01

    Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…

  1. A Respiratory Movement Monitoring System Using Fiber-Grating Vision Sensor for Diagnosing Sleep Apnea Syndrome

    NASA Astrophysics Data System (ADS)

    Takemura, Yasuhiro; Sato, Jun-Ya; Nakajima, Masato

    2005-01-01

    A non-restrictive and non-contact respiratory movement monitoring system that finds the boundary between chest and abdomen automatically and detects the vertical movement of each part of the body separately is proposed. The system uses a fiber-grating vision sensor technique and the boundary position detection is carried out by calculating the centers of gravity of upward moving and downward moving sampling points, respectively. In the experiment to evaluate the ability to detect the respiratory movement signals of each part and to discriminate between obstructive and central apneas, detected signals of the two parts and their total clearly showed the peculiarities of obstructive and central apnea. The cross talk between the two categories classified automatically according to several rules that reflect the peculiarities was ? 15%. This result is sufficient for discriminating central sleep apnea syndrome from obstructive sleep apnea syndrome and indicates that the system is promising as screening equipment. Society of Japan

  2. Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

    PubMed

    Brasseur-Daudruy, M; Vivier, P H; Ickowicz, V; Eurin, D; Verspyck, E

    2012-04-01

    Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS. PMID:22002842

  3. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  4. [Two children with cerebral and retinal hemorrhages: do not diagnose shaken baby syndrome too rapidly].

    PubMed

    Botte, A; Mars, A; Wibaut, B; De Foort-Dhellemmes, S; Vinchon, M; Leclerc, F

    2012-01-01

    We report on 2 cases associating retinal (RH) and cerebral hemorrhages (CH), which first suggested the diagnosis of shaken baby syndrome (SBS). After an etiologic search, the diagnosis was corrected: the first case was a late hemorrhagic disease of the newborn and the second case hemophilia A. RH is a major feature of SBS, although not pathognomonic. There is no specific RH of SBS but they usually affect the posterior retinal pole. Typically, RHs of SBS are present in both eyes, although unilateral RHs do not exclude the diagnosis of SBS. The relationship between RH and CH has been reported in SBS but also in other diseases. Thus, one must search for hemostasis abnormalities, even though the clinical presentation suggests SBS. Ignoring SBS as well as coming to the conclusion of SBS too quickly should be avoided. Diagnostic difficulties may be related to the number of physicians involved and their interpretation of the facts. These 2 cases underline the need for working as a team that includes hematologists able to interpret coagulation parameters. PMID:22115729

  5. The Response of Circulating Leptin Levels to Exercise Stress Testing in Subjects Diagnosed with Metabolic Syndrome

    PubMed Central

    Pop, Dana; D?dârlat, Alexandra; Bodizs, Gyorgy; Stanca, Liana; Zdrenghea, Dumitru

    2014-01-01

    Aim. To assess the plasma leptin responses after exercise stress testing in patients with metabolic syndrome (MS). Material and Methods. We investigated 67 patients with MS, with mean age of 55 ± 7 years. They underwent exercise stress testing on cycloergometer. The lot was divided into three groups: group 1—10 patients with a true positive test, group 2—18 patients with a true negative test, and group 3—39 patients with a false negative test. Leptin levels were measured using the ELISA method. Results. Leptin levels decreased after effort in patients with MS (9.42 ± 11.08?ng/mL before and 8.18 ± 11.5?ng/mL after the exercise stress test, P = 0.0005, r = 0.874). In groups 1 (8.98 ± 9.09 at rest versus 5.98 ± 8.73?ng/mL after the exercise test, P = 0.002) and 3 (8.6 ± 10.53 at rest versus 6.91 ± 9.07?ng/mL, P = 0.0005), lower leptin levels were recorded immediately after exercise testing. Leptin levels were not significantly lower in group 2 before effort (9.49 ± 11.36?ng/ml) and after (9.46 ± 13.81?ng/mL). We found no correlation between leptinemia and exercise stress testing parameters, regardless of group. Conclusion. Our research showed that short-term exercise lowers leptin levels in coronary patients, without a relationship between its parameters and leptin values. PMID:24616817

  6. The relationship between mean platelet volume and thrombosis recurrence in patients diagnosed with antiphospholipid syndrome.

    PubMed

    Rupa-Matysek, Joanna; Gil, Lidia; Wojtasi?ska, Ewelina; Ciep?uch, Katarzyna; Lewandowska, Maria; Komarnicki, Mieczys?aw

    2014-11-01

    Increased mean platelet volume (MPV) is associated with platelet reactivity and is a predictor of cardiovascular risk and unprovoked venous thromboembolism. The aim of our study was to evaluate MPV in patients with confirmed antiphospholipid antibody syndrome (APS) and to identify the correlation between the value of MPV and the recurrence of thrombosis. The studied group consists of 247 patients with a history of thrombosis and/or pregnancy loss (median age 38, range 18-66 years) classified as APS group (n = 70) or APS negative patients (n = 177) according to the updated Sapporo criteria. The control group consisted of 98 healthy subjects. MPV was significantly higher in the group of patients with clinically and laboratory confirmed APS (median 7.85, range 4.73-12.2 fl) in comparison with the controls. It was also higher than in APS negative patients (7.61, range 5.21-12.3 fl). APS patients with triple positivity for antiphospholipid antibodies with respect to Miyakis classification categories had higher MPV values than other APS patients (9.69 ± 1.85 vs. 7.29 ± 1.3 fl, p = 0.001). Recurrent thrombotic episodes were observed in 83 patients, but among the triple positive high-risk patients with APS in 80 % cases (p = 0.0046). In receiver operating characteristic curve analysis, the value of MPV level for thrombosis recurrence prediction in the APS group with sensitivity of 86 % and specificity of 82 % was 7.4 fl. In the multivariate logistic regression model, MPV above 7.4 fl (OR 3.65; 95 % CI 1.38-9.64, p = 0.009) significantly predicts thrombosis recurrence. Our results identify the value of MPV as a prognostic factor of thrombosis recurrence in patients with APS. PMID:24671503

  7. Associations between salivary gland histopathologic diagnoses and phenotypic features of Sjögren’s Syndrome (SS) among 1726 registry participants

    PubMed Central

    Daniels, Troy E.; Cox, Darren; Shiboski, Caroline H.; Schiødt, Morten; Wu, Ava; Lanfranchi, Hector; Umehara, Hisanori; Zhao, Yan; Challacombe, Stephen; Lam, Mi Y.; DeSouza, Yvonne; Schiødt, Julie; Holm, Helena; Bisio, Patricia A. M.; Gandolfo, Mariana S.; Sawaki, Toshioki; Li, Mengtao; Zhang, Wen; Varghese-Jacob, Beni; Ibsen, Per; Keszler, Alicia; Kurose, Nozomu; Nojima, Takayuki; Odell, Edward; Criswell, Lindsey A.; Jordan, Richard; Greenspan, John S.

    2011-01-01

    Objectives The Sjögren’s International Collaborative Clinical Alliance (SICCA) is an ongoing NIH-funded registry whose cohort ranges from those with symptoms of possible Sjögren’s syndrome (SS) to those with obvious disease. Using this database we examined associations between labial salivary gland (LSG) histopathology and other phenotypic features of SS. Methods LSG biopsy specimens from SICCA participants underwent protocol-directed histopathological assessments. Among 1726 LSG specimens exhibiting any pattern of sialadenitis, we compared biopsy diagnoses against concurrent salivary, ocular and serological assessments. Results LSG specimens included 61% with focal lymphocytic sialadenitis, (FLS; 66% of which had focus scores [FS] ? 1 per 4 mm2) and 38% with non-specific or sclerosing chronic sialadenitis (NS/SCS). FS ? 1 was strongly associated with positive serum anti-SS-A/-B, rheumatoid factor and the ocular component of SS, but not with symptoms of dry mouth or eyes. Those with positive anti-SS-A/-B were 9 times more likely to have a FS ? 1 (95% CI: 7.4; 11.9) than FS<1 or another pattern, while those with unstimulated whole salivary flow < 0.1 ml/min were only 2 times more likely to have a FS ? 1 (95% CI:1.7; 2.8) than FS<1 or another pattern, while controlling for other phenotypic features of SS. Conclusions Distinguishing FLS from NS/SCS is essential in assessing LSG biopsies, before determining FS. A diagnosis of FLS with FS ? 1 per 4 mm2, as compared to FLS with FS< 1 or with NS/SCS, was strongly associated with the ocular and serological components of SS and reflects SS autoimmunity. PMID:21480190

  8. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    PubMed

    Bramswig, Nuria C; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J; Wollnik, Bernd; Strom, Tim M; Wieczorek, Dagmar

    2015-06-01

    Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the causative mutation has not been identified. In this study, we performed trio-based whole-exome sequencing (WES) in ten previously described but unsolved individuals with the tentative diagnosis of CSS or NCBRS and found causative mutations in nine out of ten individuals. Interestingly, our WES analysis disclosed overlapping differential diagnoses including Wiedemann-Steiner, Kabuki, and Adams-Oliver syndromes. In addition, most likely causative de novo mutations were identified in GRIN2A and SHANK3. Moreover, trio-based WES detected SMARCA2 and SMARCA4 deletions, which had not been annotated in a previous Haloplex target enrichment and next-generation sequencing of known CSS/NCBRS genes emphasizing the advantages of WES as a diagnostic tool. In summary, we discuss the phenotypic and diagnostic challenges in clinical genetics, establish important differential diagnoses, and emphasize the cardinal features and the broad clinical spectrum of BAF complex disorders and other disorders caused by mutations in epigenetic landscapers. PMID:25724810

  9. Sterol metabolism disorders and neurodevelopment-an update.

    PubMed

    Kanungo, Shibani; Soares, Neelkamal; He, Miao; Steiner, Robert D

    2013-01-01

    Cholesterol has numerous quintessential functions in normal cell physiology, as well as in embryonic and postnatal development. It is a major component of cell membranes and myelin, and is a precursor of steroid hormones and bile acids. The development of the blood brain barrier likely around 12-18 weeks of human gestation makes the developing embryonic/fetal brain dependent on endogenous cholesterol synthesis. Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies. In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X-linked dominant chondrodysplasia punctata 2(CDPX2)/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field. PMID:23798009

  10. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  11. Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives

    PubMed Central

    Stewart, Alison

    2013-01-01

    Endometrial cancer is the first malignancy in 50% of women with Lynch syndrome, an autosomal dominant cancer-prone syndrome caused by germline mutations in genes encoding components of the DNA mismatch repair (MMR) pathway. These women (2-4% of all those with endometrial cancer) are at risk of metachronous colorectal cancer and other Lynch syndrome-associated cancers, and their first-degree relatives are at 50% risk of Lynch syndrome. Testing all women newly diagnosed with endometrial cancer for Lynch syndrome may have clinical utility for the index case and her relatives by alerting them to the benefits of surveillance and preventive options, primarily for colorectal cancer. The strategy involves offering germline DNA mutation testing to those whose tumour shows loss-of-function of MMR protein(s) when analysed for microsatellite instability (MSI) and/or by immunohistochemisty (IHC). In endometrial tumours from unselected patients, MSI and IHC have a sensitivity of 80-100% and specificity of 60-80% for detecting a mutation in an MMR gene, though the number of suitable studies for determining clinical validity is small. The clinical validity of strategies to exclude those with false-positive tumour test results due to somatic hypermethylation of the MLH1 gene promoter has not been determined. Options include direct methylation testing, and excluding those over the age of 60 who have no concerning family history or clinical features. The clinical utility of Lynch syndrome testing for the index case depends on her age and the MMR gene mutated: the net benefit is lower for those diagnosed at older ages and with less-penetrant MSH6 mutations. To date, women with these features are the majority of those diagnosed through screening unselected endometrial cancer patients but the number of studies is small. Similarly, clinical utility to relatives of the index case is higher if the family’s mutation is in MLH1 or MSH2 than for MSH6 or PMS2. Gaps in current evidence include a need for large, prospective studies on unselected endometrial cancer patients, and for health-economic analysis based on appropriate assumptions. PMID:24056992

  12. Accuracy of automatic syndromic classification of coded emergency department diagnoses in identifying mental health-related presentations for public health surveillance

    PubMed Central

    2014-01-01

    Background Syndromic surveillance in emergency departments (EDs) may be used to deliver early warnings of increases in disease activity, to provide situational awareness during events of public health significance, to supplement other information on trends in acute disease and injury, and to support the development and monitoring of prevention or response strategies. Changes in mental health related ED presentations may be relevant to these goals, provided they can be identified accurately and efficiently. This study aimed to measure the accuracy of using diagnostic codes in electronic ED presentation records to identify mental health-related visits. Methods We selected a random sample of 500 records from a total of 1,815,588 ED electronic presentation records from 59 NSW public hospitals during 2010. ED diagnoses were recorded using any of ICD-9, ICD-10 or SNOMED CT classifications. Three clinicians, blinded to the automatically generated syndromic grouping and each other’s classification, reviewed the triage notes and classified each of the 500 visits as mental health-related or not. A “mental health problem presentation” for the purposes of this study was defined as any ED presentation where either a mental disorder or a mental health problem was the reason for the ED visit. The combined clinicians’ assessment of the records was used as reference standard to measure the sensitivity, specificity, and positive and negative predictive values of the automatic classification of coded emergency department diagnoses. Agreement between the reference standard and the automated coded classification was estimated using the Kappa statistic. Results Agreement between clinician’s classification and automated coded classification was substantial (Kappa =?0.73. 95% CI: 0.58 - 0.87). The automatic syndromic grouping of coded ED diagnoses for mental health-related visits was found to be moderately sensitive (68% 95% CI: 46%-84%) and highly specific at 99% (95% CI: 98%-99.7%) when compared with the reference standard in identifying mental health related ED visits. Positive predictive value was 81% (95% CI: 0.57 – 0.94) and negative predictive value was 98% (95% CI: 0.97-0.99). Conclusions Mental health presentations identified using diagnoses coded with various classifications in electronic ED presentation records offers sufficient accuracy for application in near real-time syndromic surveillance. PMID:25245567

  13. Functional analysis of cholesterol biosynthesis by RNA interference.

    PubMed

    Guggenberger, Christina; Ilgen, Denise; Adamski, Jerzy

    2007-05-01

    Inborn errors of cholesterol biosynthesis caused by dysfunctionality of single enzymes are known to cause severe malformation syndromes like X-linked chondrodysplasia punctata (CDPX2), CHILD syndrome or Smith-Lemli-Opitz-syndrome (SLOS). In this study we established the method of RNA interference (RNAi) for analyzing the molecular mechanisms underlying disrupted cholesterol biosynthesis. For different genes involved in the cholesterol biosynthesis pathway-NAD(P) dependent steroid dehydrogenase-like (NSDHL), 17-beta hydroxysteroid dehydrogenase type 7 (HSD17B7) and emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness. For a better comparability of the experiments and to avoid different transfection efficiencies, examined shRNA sequences which reached a knock down of at least 80% were stably transfected in a HeLa cell line with a tetracycline-regulated expression (HeLa T-REx). These stable transfected cell lines represent novel tools for the analysis of cholesterol biosynthesis. PMID:17498944

  14. Causes of Age-Related Decline in Adaptive Behavior of Adults with Down Syndrome: Differential Diagnoses of Dementia.

    ERIC Educational Resources Information Center

    Prasher, V. P.; Chung, Man Cheung

    1996-01-01

    A study was conducted of 201 adults with Down's syndrome to investigate the differential causes of decline in adaptive behavior. Results indicated that aging, dementia, and severity of mental retardation were significant factors, while absence of a medical illness predicted a higher level of adaptive behavior. (CR)

  15. Filgrastim, Cladribine, Cytarabine, and Mitoxantrone Hydrochloride in Treating Patients With Newly Diagnosed or Relapsed/Refractory Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-10-19

    Acute Biphenotypic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndrome; Untreated Adult Acute Myeloid Leukemia

  16. Review: Transport of Maternal Cholesterol to the Fetal Circulation

    PubMed Central

    Woollett, Laura A.

    2011-01-01

    Data obtained from recent studies in humans, rodents, and cell culture demonstrate that circulating maternal cholesterol can be transported to the fetus. The two major cell types responsible for the transport are trophoblasts and endothelial cells of the fetoplacental vasculature. Maternal lipoprotein-cholesterol is initially taken up by trophoblasts via receptor-mediated and receptor-independent processes, is transported by any number of the sterol transport proteins expressed by cells, and is effluxed or secreted out of the basal side via protein-mediated processes or by aqueous diffusion. This cholesterol is then taken up by the endothelium and effluxed to acceptors within the fetal circulation. The ability to manipulate the mass of maternal cholesterol that is taken up by the placenta and crosses to the fetus could positively impact development of fetuses affected with the Smith-Lemli-Opitz Syndrome (SLOS) that have reduced ability to synthesize cholesterol and possibly impact growth of fetuses unaffected by SLOS but with low birthweights. PMID:21300403

  17. Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders

    PubMed Central

    Xu, L.; Porter, N. A.

    2015-01-01

    Free radical oxidation of cholesterol and its precursors contribute significantly to the pathophysiology of a number of human diseases. This review intends to summarize recent developments and provide a perspective on the reactivities of sterols toward free radical oxidation, the free radical reaction mechanism, and the biological consequences of oxysterols derived from the highly oxidizable cholesterol precursor, 7-dehydrocholesterol. We propose that the rigid structures, additional substituents on the double bonds, and the well-aligned reactive C–H bonds in sterols make them more prone to free radical oxidation than their acyclic analogs found in unsaturated fatty acids. The mechanism of sterol peroxidation follows some well-established reaction pathways found in the free radical peroxidation of polyunsaturated fatty acids, but sterols also undergo some reactions that are unique to these compounds. Peroxidation of 7-dehydrocholesterol gives arguably the most diverse set of oxysterol products that have been observed to date. The metabolism of these oxysterols in cells and the biological consequences of their formation will be discussed in the context of the pathophysiology of the human disease Smith–Lemli–Opitz syndrome. Considering the high reactivity of sterols, we propose that a number of other cholesterol biosynthesis disorders may be associated with oxidative stress. PMID:25381800

  18. Cholesterol: Its Regulation and Role in Central Nervous System Disorders

    PubMed Central

    Orth, Matthias; Bellosta, Stefano

    2012-01-01

    Cholesterol is a major constituent of the human brain, and the brain is the most cholesterol-rich organ. Numerous lipoprotein receptors and apolipoproteins are expressed in the brain. Cholesterol is tightly regulated between the major brain cells and is essential for normal brain development. The metabolism of brain cholesterol differs markedly from that of other tissues. Brain cholesterol is primarily derived by de novo synthesis and the blood brain barrier prevents the uptake of lipoprotein cholesterol from the circulation. Defects in cholesterol metabolism lead to structural and functional central nervous system diseases such as Smith-Lemli-Opitz syndrome, Niemann-Pick type C disease, and Alzheimer's disease. These diseases affect different metabolic pathways (cholesterol biosynthesis, lipid transport and lipoprotein assembly, apolipoproteins, lipoprotein receptors, and signaling molecules). We review the metabolic pathways of cholesterol in the CNS and its cell-specific and microdomain-specific interaction with other pathways such as the amyloid precursor protein and discuss potential treatment strategies as well as the effects of the widespread use of LDL cholesterol-lowering drugs on brain functions. PMID:23119149

  19. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  20. Restless Legs Syndrome Risk Factors, Behaviors, and Diagnoses in Persons With Early to Moderate Dementia and Sleep Disturbance

    PubMed Central

    Richards, Kathy; Shue, Valorie M.; Beck, Cornelia K.; Lambert, Corinne W.; Bliwise, Donald L.

    2013-01-01

    In this study, restless legs syndrome (RLS) risk factors, RLS-associated behaviors, and the ability to understand and answer an RLS diagnostic interview were investigated. In 23 older adults with early to moderate dementia and nighttime sleep disturbance, the most common risk factors for RLS were a periodic leg movement sleep index > 15 (54.55%), based on polysomnography, and use of selective serotonin reuptake inhibitors (SSRis) (34.78% ). The most common RLS-associated behaviors were repetitious mannerisms (56.52%) and general restlessness (34.78% ), according to direct observation from research assistants. Finally, older adults with early to moderate dementia were unable to understand and reliably answer the RLS diagnostic interview. Older persons with mild to moderate dementia and sleep disturbance may require objective diagnostics to identify RLS. PMID:20043249

  1. Restless legs syndrome risk factors, behaviors, and diagnoses in persons with early to moderate dementia and sleep disturbance.

    PubMed

    Richards, Kathy; Shue, Valorie M; Beck, Cornelia K; Lambert, Corinne W; Bliwise, Donald L

    2010-01-01

    In this study, restless legs syndrome (RLS) risk factors, RLS-associated behaviors, and the ability to understand and answer an RLS diagnostic interview were investigated. In 23 older adults with early to moderate dementia and nighttime sleep disturbance, the most common risk factors for RLS were a periodic leg movement sleep index > 15 (54.55%), based on polysomnography, and use of selective serotonin reuptake inhibitors (SSRIs) (34.78%). The most common RLS-associated behaviors were repetitious mannerisms (56.52%) and general restlessness (34.78%), according to direct observation from research assistants. Finally, older adults with early to moderate dementia were unable to understand and reliably answer the RLS diagnostic interview. Older persons with mild to moderate dementia and sleep disturbance may require objective diagnostics to identify RLS. PMID:20043249

  2. When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives

    PubMed Central

    Grosse, Scott D.

    2015-01-01

    Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS) in tumors from patients newly diagnosed with colorectal cancer (CRC) for either all adult patients or patients up to age 70 along with cascade testing of relatives of probands. Seven studies published from 2010 through 2015 were identified and summarized. Five studies analyzed the universal offer of testing to adult patients with CRC and two others analyzed testing patients up to age 70; all except one reported incremental cost-effectiveness ratios (ICERs) < $ 100,000 per life-year or quality-adjusted life-year gained. Three studies found lower ICERs for selective testing strategies using family history-based predictive models compared with universal testing. However, those calculations were based on estimates of sensitivity of predictive models derived from research studies, and it is unclear how sensitive such models are in routine clinical practice. Key model parameters that are influential in ICER estimates included 1) the number of first-degree relatives tested per proband identified with LS and 2) the cost of gene sequencing. Others include the frequency of intensive colonoscopic surveillance, the cost of colonoscopy, and the inclusion of extracolonic surveillance and prevention options. PMID:26473097

  3. Definition of insulin resistance using the homeostasis model assessment (HOMA-IR) in IVF patients diagnosed with polycystic ovary syndrome (PCOS) according to the Rotterdam criteria.

    PubMed

    Alebi?, Miro Šimun; Bulum, Tomislav; Stojanovi?, Nataša; Duvnjak, Lea

    2014-11-01

    Polycystic ovary syndrome (PCOS) women are more insulin resistant than general population. Prevalence data on insulin resistance (IR) in PCOS vary depending on population characteristics and methodology used. The objectives of this study were to investigate whether IR in PCOS is exclusively associated with body mass and to assess the prevalence of IR in lean and overweight/obese PCOS. Study included 250 consecutive women who attended a Department of Human Reproduction diagnosed as having PCOS according to the Rotterdam criteria. Control group comprised 500 healthy women referred for male factor infertility evaluation during the same period as the PCOS women. PCOS women (n = 250) were more insulin resistant than controls (n = 500) even after adjustment for age and body mass index (BMI) (P = 0.03). Using logistic regression analysis, BMI ? 25 kg/m(2) (OR 6.0; 95 % CI 3.3-11.0), PCOS (OR 2.2; 95 % CI 1.4-3.5) and waist circumference ? 80 cm (OR 2.0; 95 % CI 1.1-3.8) were identified as independent determinants of IR (P < 0.001). IR was more prevalent in overweight/obese controls (n = 100) than in lean PCOS women (n = 150), 31 versus 9.3 %, but less prevalent than in overweight/obese PCOS (n = 100), 31 versus 57 %. The prevalence of IR between lean controls (5 %) and lean PCOS (9.3 %) did not significantly differ. Both PCOS-specific and obesity-related IR independently contribute to IR in PCOS. Using HOMA-IR cutoff value of 3.15 specific for Croatian women in our clinical setting, the assessed prevalence of IR in lean and overweight/obese PCOS women was 9.3 and 57 %, respectively. PMID:24522614

  4. How Is Marfan Syndrome Diagnosed?

    MedlinePLUS

    ... Career Development Division of Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & Clinical Studies NHLBI Trials Clinical Trial Websites News & Resources Press Releases Spotlight On Research NHLBI ...

  5. How Are Myelodysplastic Syndromes Diagnosed?

    MedlinePLUS

    ... 3 or more chromosomes, have a poorer outlook. Molecular genetic studies These tests are another way to find ... cytogenetic testing. Polymerase chain reaction (PCR) is another molecular genetic test that can be used to look for ...

  6. Newly Diagnosed?

    MedlinePLUS

    ... Suggestions Examine Your Skin Newly Diagnosed? Understanding Your Pathology Biopsy: The First Step Sentinel Node Biopsy Melanoma ... start this journey: Get a copy of your pathology report. We can help you understand the report ...

  7. Neurocutaneous Syndromes

    MedlinePLUS

    ... local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be ... site. Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  8. Diagnosing Flu

    MedlinePLUS

    ... your symptoms and their clinical judgment. Will my health care provider test me for flu if I have flu-like ... flu symptoms do not require testing because the test results usually do not change how you are treated. Your health care provider may diagnose you with flu based on ...

  9. How Do Health Care Providers Diagnose Adrenal Gland Disorders?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose adrenal gland disorders? Skip sharing on ... and urine tests. 1 Cushing’s Syndrome If a health care provider suspects Cushing’s syndrome, he or she may ...

  10. Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.

    PubMed

    Horvat, Simon; McWhir, Jim; Rozman, Damjana

    2011-02-01

    This review describes the mouse knockout models of cholesterol synthesis, together with human malformations and drugs that target cholesterogenic enzymes. Generally, the sooner a gene acts in cholesterol synthesis, the earlier the phenotype occurs. Humans with loss of function of early cholesterogenic enzymes have not yet been described, and in the mouse, loss of Hmgcr is preimplantation lethal. Together, these results indicate that the widely prescribed cholesterol-lowering statins are potentially teratogenic. The Mvk knockout is early embryonic lethal in the mouse, the absence of Fdft1 is lethal at E9.5-12.5 dpc, while the Cyp51 knockouts die at 15.0 dpc. Fungal CYP51 inhibitor azoles are teratogenic in humans, potentially leading to symptoms of Antley-Bixler syndrome. The X-linked mutations in Nsdhl and Ebp are embryonic lethal in male mice, while heterozygous females are also affected. Consequently, the anticancer drugs, tamoxifen and toremifene, inhibiting human EBP, may be harmful in early pregnancy. The Dhcr7 and Dhcr24 knockout mice die shortly after birth, while humans survive with Smith-Lemli-Opitz syndrome or desmosterolosis. Since cholesterol is essential for hedgehog signaling, disturbance of this pathway by antipsychotics and -depressants explains some drug side effects. In conclusion, defects in cholesterol synthesis are generally lethal in mice, while humans with impaired later steps of the pathway can survive with severe malformations. Evidence shows that drugs targeting or, by coincidence, inhibiting human cholesterol synthesis are better avoided in early pregnancy. Since some drugs with teratogenic potential still stay on the market, this should be avoided in new cholesterol-related drug development. PMID:21247357

  11. Novel activities of CYP11A1 and their potential physiological significance.

    PubMed

    Slominski, Andrzej T; Li, Wei; Kim, Tae-Kang; Semak, Igor; Wang, Jin; Zjawiony, Jordan K; Tuckey, Robert C

    2015-07-01

    CYP11A1, found only in vertebrates, catalyzes the first step of steroidogenesis where cholesterol is converted to pregnenolone. The purified enzyme, also converts desmosterol and plant sterols including campesterol and ?-sitosterol, to pregnenolone. Studies, initially with purified enzyme, reveal that 7-dehydrocholesterol (7DHC), ergosterol, lumisterol 3, and vitamins D3 and D2 also serve as substrates for CYP11A1, with 7DHC being better and vitamins D3 and D2 being poorer substrates than cholesterol. Adrenal glands, placenta, and epidermal keratinocytes can also carry out these conversions and 7-dehydropregnenolone has been detected in the epidermis, adrenal glands, and serum, and 20-hydroxyvitamin D3 was detected in human serum and the epidermis. Thus, this metabolism does appear to occur in vivo, although its quantitative importance and physiological role remain to be established. CYP11A1 action on 7DHC in vivo is further supported by detection of ?(7)steroids in Smith-Lemli-Opitz syndrome patients. The activity of CYP11A1 is affected by the structure of the substrate with sterols having steroidal or ?(7)-steroidal structures undergoing side chain cleavage following hydroxylations at C22 and C20. In contrast, metabolism of vitamin D involves sequential hydroxylations that start at C20 but do not lead to cleavage. Molecular modeling using the crystal structure of CYP11A1 predicts that other intermediates of cholesterol synthesis could also serve as substrates for CYP11A1. Finally, CYP11A1-derived secosteroidal hydroxy-derivatives and ?(7)steroids are biologically active when administered in vitro in a manner dependent on the structure of the compound and the lineage of the target cells, suggesting physiological roles for these metabolites. This article is part of a special issue entitled 'SI: Steroid/Sterol signaling'. PMID:25448732

  12. Diagnosing hypertension

    PubMed Central

    Gelfer, Mark; Dawes, Martin; Kaczorowski, Janusz; Padwal, Raj; Cloutier, Lyne

    2015-01-01

    Abstract Objective To highlight the 2015 Canadian Hypertension Education Program (CHEP) recommendations for the diagnosis and assessment of hypertension. Quality of evidence A systematic search was performed current to August 2014 by a Cochrane Collaboration librarian using the MEDLINE and PubMed databases. The search results were critically appraised by the CHEP subcommittee on blood pressure (BP) measurement and diagnosis, and evidence-based recommendations were presented to the CHEP Central Review Committee for independent review and grading. Finally, the findings and recommendations were presented to the Recommendations Task Force for discussion, debate, approval, and voting. The main recommendations are based on level II evidence. Main message Based on the most recent evidence, CHEP has made 4 recommendations in 2 broad categories for 2015 to improve BP measurement and the way hypertension is diagnosed. A strong recommendation is made to use electronic BP measurement in the office setting to replace auscultatory BP measurement. For patients with elevated office readings, CHEP is recommending early use of out-of-office BP measurement, preferably ambulatory BP measurement, in order to identify early in the process those patients with white-coat hypertension. Conclusion Improvements in diagnostic accuracy are critical to optimizing hypertension management in Canada. The annual updates provided by CHEP ensure that practitioners have up-to-date evidence-based information to inform practice. PMID:26564654

  13. Clofarabine, Cytarabine, and Filgrastim in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia, Advanced Myelodysplastic Syndrome, and/or Advanced Myeloproliferative Neoplasm

    ClinicalTrials.gov

    2015-12-28

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Untreated Adult Acute Myeloid Leukemia; Myeloproliferative Neoplasm With 10% Blasts or Higher

  14. Urolithins are the main urinary microbial-derived phenolic metabolites discriminating a moderate consumption of nuts in free-living subjects with diagnosed metabolic syndrome.

    PubMed

    Tulipani, Sara; Urpi-Sarda, Mireia; García-Villalba, Rocío; Rabassa, Montserrat; López-Uriarte, Patricia; Bulló, Mònica; Jáuregui, Olga; Tomás-Barberán, Francisco; Salas-Salvadó, Jordi; Espín, Juan Carlos; Andrés-Lacueva, Cristina

    2012-09-12

    Walnuts ( Juglans regia L.), hazelnuts ( Corylus avellana L.), and almonds ( Prunus dulcis Mill.) are rich sources of ellagitannins and proanthocyanidins. Gut microbiota plays a crucial role in modulating the bioavailability of these high molecular weight polyphenols. However, to date there are no studies evaluating the capacity to produce nut phenolic metabolites in subjects with metabolic syndrome (MetS), a pathology associated with an altered gut bacterial diversity. This study applied a LC-MS targeted approach to analyze the urinary excretion of nut phenolic metabolites in MetS subjects following 12 weeks of nut consumption, compared to sex- and age-matched individuals given a nut-free control diet. Metabolites were targeted in both hydrolyzed and nonhydrolyzed urine by LC-PDA-QqQ-MS/MS analysis, and identification of metabolites lacking available standards was confirmed by LC-ESI-ITD-FT-MS. Ellagitannin-derived urolithins A and B significantly increased after the nut-enriched-diet, urolithins C and D were also detected, and a complex combination of urolithin-conjugated forms was observed in nonhydrolyzed urine, confirming an extensive phase II metabolism after absorption. In contrast, no significant increases in proanthocyanidin microbial metabolites were observed in urine following nut consumption. Because the intestinal microbiota of the subjects in this study could catabolize ellagitannins into a wide range of urolithins, further research is strongly warranted on the in vivo potential of these microbial metabolites in reducing cardiometabolic risk. PMID:22631214

  15. Chronic Fatigue Syndrome (CFS): Diagnosis

    MedlinePLUS

    ... CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome ( ... severity. These factors have contributed to a low diagnosis rate. Of the one to four million Americans ...

  16. How Is Pneumonia Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Pneumonia Diagnosed? Pneumonia can be hard to diagnose because it may ... than these other conditions. Your doctor will diagnose pneumonia based on your medical history, a physical exam, ...

  17. How Are Arrhythmias Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Are Arrhythmias Diagnosed? Arrhythmias can be hard to diagnose, especially the types ... symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical ...

  18. Frailty syndrome diagnosed according to the Study of Osteoporotic Fractures (SOF) criteria and adverse health outcomes among community-dwelling older outpatients in Italy. A one-year prospective cohort study.

    PubMed

    Bilotta, Claudio; Nicolini, Paola; Casè, Alessandra; Pina, Gloria; Rossi, Silvia; Vergani, Carlo

    2012-01-01

    The easy-to-apply SOF criteria for frailty were recently validated in studies conducted in the U.S. only. In order to determine the ability of the SOF criteria to predict adverse health outcomes at a one-year follow-up in a sample of older outpatients in Italy we carried out a prospective cohort study on 265 community-dwelling outpatients aged 65+ (mean age 81.5 years) consecutively referred to a geriatric clinic. At baseline participants underwent a comprehensive geriatric assessment (CGA) including evaluation of their frailty status according to the SOF criteria. At a one-year follow-up, between June and December 2010, we investigated nursing home placement and death in all participants as well as any fall, any admission to the emergency department (ED), any hospitalization and a greater disability among the subset of subjects still living at home. One year after the visit 231 subjects were still living at home (87.2%), 9 had been placed in a nursing home (3.4%) and 25 had died (9.4%). Frailty was associated with a greater risk of falls (odds ratio [OR] 2.01, 95% confidence interval [CI] 1.05-3.83, p=0.035), hospitalization (OR 2.08, 95% CI 1.02-4.24, p=0.045) and death (OR 3.07, 95% 1.02-4.24, p=0.045) after correction for demographic characteristics, comorbidity including dementia and depression, socioeconomic position and severe disability. Thus, in an older outpatient population in Italy the frailty syndrome diagnosed according to the SOF criteria was an independent predictor of several adverse health outcomes. PMID:21871675

  19. How Is COPD Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is COPD Diagnosed? Your doctor will diagnose COPD based on ... Rate This Content: NEXT >> Featured Video What is COPD? 05/22/2014 Describes how COPD, or chronic ...

  20. How Is Infertility Diagnosed?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How is infertility diagnosed? Skip sharing on social media links Share ... providers evaluate men and women differently to diagnose infertility. Evaluating Female Fertility In evaluating a woman's fertility, ...

  1. How Is Atherosclerosis Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Atherosclerosis Diagnosed? Your doctor will diagnose atherosclerosis based on ... Rate This Content: NEXT >> Featured Video What is atherosclerosis? 05/22/2014 Describes how the build-up ...

  2. Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)

    MedlinePLUS

    ... Centers for Disease Control and Prevention Viral Special Pathogens Branch 1600 Clifton Rd Atlanta, GA 30333 Hantavirus ... 6348 Contact CDC-INFO About VSPB (Viral Special Pathogens Branch) Hantavirus U.S. Rodents that Carry Hantavirus Deer ...

  3. How Is Long QT Syndrome Diagnosed?

    MedlinePLUS

    ... results Medical history and the results from a physical exam Genetic test results EKG (Electrocardiogram) An EKG is a simple test that detects and records the heart's electrical activity. This test may show a long QT interval ...

  4. Another case of prenatally diagnosed 48,XYY,+21

    SciTech Connect

    Stevens, J.

    1995-02-13

    We report on a 20-month-old boy with 48,XYY,+21, the third prenatally diagnosed patient with this rare double aneuploidy syndrome. A review of 14 literature cases suggests that the Down syndrome phenotype appears unaltered by the extra Y chromosome. 24 refs., 1 fig., 1 tab.

  5. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

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

  6. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

    PubMed

    Ferianec, Vladimír; Bartova, Michaela

    2014-10-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

  7. Managing Sjogren's Syndrome.

    PubMed

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin. PMID:26418108

  8. The New Unified International Diabetes Federation/American Heart Association/National Heart, Lung, and Blood Institute Metabolic Syndrome definition: does it correlate better with C-reactive protein in Chinese patients diagnosed with type 2 diabetes?

    PubMed

    Lu, B; Zhang, S; Wen, J; Yang, Y; Yang, Z; Zhang, Z; Wang, X; Hu, R

    2010-01-01

    This study evaluated the association between high-sensitivity C-reactive protein (hsCRP) and metabolic syndrome, defined by the definition proposed by the International Diabetes Federation (IDF), American Heart Association (AHA) and National Heart, Lung, and Blood Institute (NHLBI) versus the older IDF definition, in 506 Chinese patients with type 2 diabetes. Anthropometric and biochemical parameters were compared and analysed using multivariate linear regression models. Serum hsCRP was higher in patients with metabolic syndrome compared with those without metabolic syndrome for both definitions and increased as the number of components of metabolic syndrome increased (after adjusting for age, gender and smoking). Patients with metabolic syndrome according to the IDF/AHA/NHLBI but not the IDF definition had significantly higher hsCRP levels than those not meeting either definition and similar hsCRP levels to those meeting both definitions. Serum hsCRP levels were significantly associated with metabolic syndrome according to the IDF definition after adjusting for age, gender and smoking. Adding metabolic syndrome status according to the IDF/AHA/NHLBI definition significantly increased the fit of the multivariate linear regression model. The new IDF/AHA/NHLBI definition of metabolic syndrome may have a stronger relationship with serum hsCRP than the IDF definition. PMID:21226995

  9. Congenital Syndromes and Mildly Handicapped Students: Implications for Special Educators.

    ERIC Educational Resources Information Center

    Smith, Sandra M.

    1989-01-01

    Many learning disabilities or cases of mild retardation are due to medically diagnosable, congenital syndromes, such as fetal alcohol syndrome, sex chromosome abnormalities, multiple anomaly syndromes, phenylketonuria, and Tourette Syndrome. These syndromes are discussed, and suggestions are given for special education management. (Author/JDD)

  10. Associated malformations in patients with limb reduction deficiencies.

    PubMed

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2010-01-01

    Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

  11. Diagnosing Psoriatic Arthritis

    MedlinePLUS

    ... Psoriatic Arthritis Info Kit Resources Community icon: Link text: Post your questions in our online community and ... psoriasis and psoriatic arthritis. Talk Psoriasis icon: Link text: Are you newly diagnosed? Have questions? Connect with ...

  12. How Is Lymphocytopenia Diagnosed?

    MedlinePLUS

    ... of lymphocytes—T cells, B cells, and natural killer cells. The test can help diagnose the underlying ... cause low levels of B cells or natural killer cells. Tests for Underlying Conditions Many diseases and ...

  13. Diagnosing Tic Disorders

    MedlinePLUS

    ... condition (for example, seizures, Huntington disease, or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder For ... tics (for example, seizures, Huntington disease, or postviral encephalitis). not have been diagnosed with TS. Provisional Tic ...

  14. How Is Hemochromatosis Diagnosed?

    MedlinePLUS

    ... tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you ... This procedure also can help your doctor diagnose liver damage (for example, scarring and cancer). Liver biopsies are ...

  15. Diagnosing Abiotic Degradation

    EPA Science Inventory

    The abiotic degradation of chlorinated solvents in ground water can be difficult to diagnose. Under current practice, most of the “evidence” is negative; specifically the apparent disappearance of chlorinated solvents with an accumulation of vinyl chloride, ethane, ethylene, or ...

  16. The Effects of Sterol Structure upon Sterol Esterification

    PubMed Central

    Lin, Don; Steiner, Robert D.; Merkens, Louise S.; Pappu, Anuradha S.; Connor, William E.

    2011-01-01

    Cholesterol is esterified in mammals by two enzymes: LCAT (lecithin cholesterol acyltransferase) in plasma and ACAT1 and ACAT2 (acyl-CoA cholesterol acyltransferases) in the tissues. We hypothesized that the sterol structure may have significant effects on the outcome of esterification by these enzymes. To test this hypothesis, we analyzed sterol esters in plasma and tissues in patients having non-cholesterol sterols (sitosterolemia and Smith-Lemli-Opitz syndrome). The esterification of a given sterol was defined as the sterol ester percentage of total sterols. The esterification of cholesterol in plasma by LCAT was 67 percent and in tissues by ACAT was 64 percent. Esterification of nine sterols, (cholesterol, cholestanol, campesterol, stigmasterol, sitosterol, campestanol, sitostanol, 7-dehydrocholesterol and 8-dehydrocholesterol) was examined.(The relative esterification (cholesterol being 1.0) of these sterols by the plasma LCAT was 1.00, 0.95, 0.89, 0.40, 0.85, 0.82 and 0.80, 0.69 and 0.82 respectively. The esterification by the tissue ACAT was 1.00, 1.29, 0.75, 0.49, 0.45, 1.21 and 0.74 respectively. The predominant fatty acid of the sterol esters was linoleic acid for LCAT and oleic acid for ACAT. We compared the esterification of two sterols differing by only one functional group (a chemical group attached to sterol nucleus) and were able to quantify the effects of individual functional groups on sterol esterification. The saturation of the A ring of cholesterol increased ester formation by ACAT by 29 percent and decreased the esterification by LCAT by 5.9 percent. Esterification by ACAT and LCAT was reduced respectively by 25 percent and 11 percent by the presence of an additional methyl group on the side chain of cholesterol at the C-24 position. This data supports our hypothesis that the structure of the sterol substrate has a significant effect on its esterification by ACAT or LCAT. PMID:19679306

  17. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2and GRIP1genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  18. How Is Cardiogenic Shock Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Cardiogenic Shock Diagnosed? The first step in diagnosing cardiogenic shock ... is cardiogenic shock. Tests and Procedures To Diagnose Shock and Its Underlying Causes Blood Pressure Test Medical ...

  19. Understanding Prostate Cancer: Newly Diagnosed

    MedlinePLUS

    ... Wellness PCF Spotlight Glossary African American Men Understanding Prostate Cancer Newly Diagnosed Newly Diagnosed Staging the Disease Issues ... you care about has recently been diagnosed with prostate cancer, this section will help guide you through the ...

  20. How a Stroke Is Diagnosed

    MedlinePLUS

    ... News About Neurology Image Library Search The Internet Stroke Center Patients & Families About Stroke Stroke Diagnosis Stroke ... Diagnosis » How a Stroke is Diagnosed How a Stroke is Diagnosed How a Stroke is Diagnosed Lab ...

  1. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    PubMed

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature. PMID:21305864

  2. [Kabuki syndrome, a congenital syndrome with multiple anomalies].

    PubMed

    den Biggelaar, A M; Kuijpers-Jagtman, A M; Bergé, S J; Katsaros, C

    2006-12-01

    The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described. PMID:17193989

  3. A case of acute carpal tunnel syndrome.

    PubMed

    Barbee, George A; Haley, Chelsey L; Berry-Cabán, Cristóbal S

    2016-01-01

    Acute carpal tunnel syndrome is a rare diagnosis in orthopedic medicine. This article describes a 35-year-old man who presented to the ED with complaints of discomfort and paresthesias in his right wrist after a fall, and was subsequently diagnosed with acute carpal tunnel syndrome. The article reviews the pathophysiology of the syndrome and suggested treatment. PMID:26704650

  4. Diagnosing ADHD in Adolescence

    ERIC Educational Resources Information Center

    Sibley, Margaret H.; Pelham, William E., Jr.; Molina, Brooke S. G.; Gnagy, Elizabeth M.; Waschbusch, Daniel A.; Garefino, Allison C.; Kuriyan, Aparajita B.; Babinski, Dara E.; Karch, Kathryn M.

    2012-01-01

    Objective: This study examines adolescent-specific practical problems associated with current practice parameters for diagnosing attention-deficit/hyperactivity disorder (ADHD) to inform recommendations for the diagnosis of ADHD in adolescents. Specifically, issues surrounding the use of self- versus informant ratings, diagnostic threshold, and…

  5. Carpal tunnel syndrome diagnosis.

    PubMed

    Sucher, Benjamin M; Schreiber, Adam L

    2014-05-01

    Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330

  6. Sandifer syndrome: an overlooked diagnosis?

    PubMed

    Nanayakkara, C S; Paton, J Y

    1985-12-01

    Three retarded children are described who had marked irritability and abnormal movements of the body and contortions of the neck. These movements were diagnosed as epilepsy and the children were treated with numerous anticonvulsants, without success. Subsequently severe gastro-oesophageal reflux was diagnosed, and treatment of the reflux completely eliminated the abnormal movements. Sandifer syndrome was diagnosed, consisting of abnormal body-movements and contortions of the neck, associated with gastro-oesophageal reflux. Suggestions are made to enable early diagnosis of this syndrome. PMID:4092855

  7. Metabolic Syndrome

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Metabolic Syndrome KidsHealth > Teens > Diabetes Center > Treatment & Prevention > Metabolic Syndrome ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  8. Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

    PubMed Central

    Murthy, Jyotsna; Babu, Ramesh; Ramanan, Padmasani Venkat

    2008-01-01

    The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases. PMID:19753208

  9. [Schizophrenia or Asperger syndrome?].

    PubMed

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

    2008-09-01

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

  10. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    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

  11. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

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

  12. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

  13. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

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

  14. Diagnosing Dementia—Positive Signs

    MedlinePLUS

    ... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

  15. How Is Cystic Fibrosis Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Cystic Fibrosis Diagnosed? Doctors diagnose cystic fibrosis (CF) based on ... to see whether the baby has CF. Cystic Fibrosis Carrier Testing People who have one normal CFTR ...

  16. How Is Pulmonary Hypertension Diagnosed?

    MedlinePLUS

    ... Hypertension Diagnosed? Your doctor will diagnose pulmonary hypertension (PH) based on your medical and family histories, a ... exam, and the results from tests and procedures. PH can develop slowly. In fact, you may have ...

  17. Laugier-Hunziker syndrome - Case report*

    PubMed Central

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome. PMID:26312723

  18. Newly Diagnosed Acute Promyelocytic Leukemia

    PubMed Central

    Avvisati, Giuseppe

    2011-01-01

    Acute promyelocytic leukemia (APL) represents a medical emergency with a high rate of early mortality. As a consequence, as soon as the diagnosis is suspected based upon cytologic criteria, it is necessary to start all- trans retinoic acid (ATRA) treatment without delay. For patients with newly diagnosed APL, induction therapy with ATRA plus anthracycline based chemotherapy is recommended. At present the combination of arsenic trioxide plus ATRA should be considered for patients who are not candidates for anthracycline-based therapy. For pediatric and adult patients with APL aged < 60 years who achieve a CR with induction, I recommend 3 intensive courses of consolidation chemotherapy associated to ATRA, targeted on the basis of the risk group at diagnosis. In patients treated with a very intensive consolidation chemotherapy maintenance treatment can be omitted. However If a maintenance treatment has to be adopted I suggest the use of intermittent ATRA for 15 days every 3 months for a period of 2 years, rather than ATRA associated to chemotherapy. Moreover, taking into account the medical literature, a reduced dosage of ATRA ( 25 mg/m2) in pediatric patients and a consolidation chemotherapy of reduced intensity in elderly patients is recommended. Furthermore, in order to maximize survival, careful attention should be reserved to the coagulopathy and to the appearance of the differentiation syndrome. Finally, PCR for the PML/RARA fusion gene on a bone marrow specimen every three months for two years, and then every six months for additional three years are needed during the follow-up. PMID:22220261

  19. Diagnosable structured logic array

    NASA Technical Reports Server (NTRS)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  20. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  1. A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1.

    PubMed

    Abrahamsen, Bjørg J; Kulseth, Mari Ann; Paus, Benedicte

    2015-05-01

    A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient's physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS). This atypical presentation of vascular EDS with intrathoracic complications shows that enhanced awareness is required and demonstrates the usefulness of the genetic analyses that are clinically available for several hereditary connective tissue disorders. PMID:25940258

  2. [An apparent life threatening secondary to long Qt syndrome].

    PubMed

    Moltedo, José M; Benjamín, Mónica N; Olmedo, Julián; Abello, Mauricio S; Giménez, Pedro

    2013-01-01

    We report the case of an infant with an episode of loss of consciousness, in whom ventricular fibrillation was diagnosed. He was successfully defibrillated and long QT syndrome was diagnosed as his baseline disease. This case constitutes a documented example of this entity as a cause of the sudden infant death syndrome. PMID:23570766

  3. Berry syndrome: the importance of genetic evaluation before surgical intervention.

    PubMed

    Remon, Juan I; Briston, David A; Stern, Kenan W

    2016-01-01

    Berry syndrome is a rare CHD. Approximately 29 cases have been described in the literature. Surgical correction has been successfully performed as well. We report the case of a newborn diagnosed with Berry syndrome who was subsequently diagnosed with trisomy 13. Cytogenetic analysis should be performed before surgical repair for optimal management. PMID:25828190

  4. What Are the Treatments for Rett Syndrome?

    MedlinePLUS

    ... ncbi.nlm.nih.gov/pubmedhealth/PMH0002503 [top] United Cerebral Palsy. (2009). Can Rett syndrome be treated? Retrieved June ... top] « How is it diagnosed? Last Reviewed: 01/14/2014 Related A-Z Topics Autism Spectrum Disorder ( ...

  5. Genetics Home Reference: Beckwith-Wiedemann syndrome

    MedlinePLUS

    ... mild symptoms are never diagnosed. What are the genetic changes related to Beckwith-Wiedemann syndrome? The genetic ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  6. IBMFS - Other Bone Marrow Failure Syndromes

    Cancer.gov

    There are several other inherited bone marrow syndromes which are less common than the ones that are discussed individually on this Website. These diagnoses are usually made by experts in hematology or genetics.

  7. Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

    PubMed Central

    Medeiros-Domingo, Argelia; Bhuiyan, Zahurul A.; Tester, David J.; Hofman, Nynke; Bikker, Hennie; van Tintelen, J Peter; Mannens, Marcel M.A.M; Wilde, Arthur A.M.; Ackerman, Michael J.

    2010-01-01

    Objective To determine the spectrum and prevalence of mutations in the RYR2-encoded the cardiac ryanodine receptor in cases with exertional syncope and normal QTc. Background Mutations in the RYR2 cause type 1 catecholaminergic polymorphic ventricular tachycardia (CPVT1), a cardiac channelopathy with increased propensity for lethal ventricular dysrhythmias. Most RYR2 mutational analyses target 3 canonical domains encoded by < 40% of the translated exons. The extent of CPVT1-associated mutations localizing outside of these domains remains unknown as RYR2 has not been examined comprehensively in most patient cohorts. Methods Mutational analysis of all RYR2 exons was performed using PCR, DHPLC, and DNA sequencing on 155 unrelated patients (49% females, 96% white, age at diagnosis 20 ± 15 years, mean QTc 428 ± 29 ms), with either clinical diagnosis of CPVT (n = 110) or an initial diagnosis of exercise-induced long QT syndrome (LQTS) but with QTc < 480 ms and a subsequent negative LQTS genetic test (n = 45). Results Sixty-three (34 novel) possible CPVT1-associated mutations, absent in 400 reference alleles, were detected in 73 unrelated patients (47%). Thirteen new mutation-containing exons were identified. Two thirds of the CPVT1-positive patients had mutations that localized to one of 16 exons. Conclusions Possible CPVT1 mutations in RYR2 were identified in nearly half of this cohort. 45 of the 105 translated exons are now known to host possible mutations. Considering that ~65% of CPVT1-positive cases would be discovered by selective analysis of 16 exons, a tiered targeting strategy for CPVT genetic testing should be considered. PMID:19926015

  8. [Not diagnosable malignant melanomas].

    PubMed

    Neuber, H; Lippold, A; Hundeiker, M

    1991-04-01

    Of the 3574 malignant melanomas treated in Hornheide between December 1981 and August 1990 (not including preinvasive cases) 97 were not immediately recognized. These tumours did not look like melanomas. In 72% they were smaller than 10 mm in diameter, and in 20%, smaller than 5 mm. Clark's so often quoted "pencil rule" should no longer be used as an aid to exclusion of invasive melanoma. Localization of the unrecognized melanomas was on the head and neck in 22% of cases. In 37%, the patients were under the age of 40 years. No less than 25% of the patients had multiple melanomas. Many of these melanomas. Many of these melanomas were thin tumours (less than 0.75 mm in 55% and less than 1.5 mm in 77%). This explains why more than 50% of the lesions are described as "macules". The most common incorrect diagnoses were dysplastic naevi (44%) and common (23%) naevi. The most important anamnestic criteria are the patients' own statements about changes in size, colour and shape. These "dynamic" elements must be more carefully observed and documented during process of the clinical diagnosis. PMID:1860796

  9. The clinical usefulness of extravascular lung water and pulmonary vascular permeability index to diagnose and characterize pulmonary edema: a prospective multicenter study on the quantitative differential diagnostic definition for acute lung injury/acute respiratory distress syndrome

    PubMed Central

    2012-01-01

    Introduction Acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) is characterized by features other than increased pulmonary vascular permeability. Pulmonary vascular permeability combined with increased extravascular lung water content has been considered a quantitative diagnostic criterion of ALI/ARDS. This prospective, multi-institutional, observational study aimed to clarify the clinical pathophysiological features of ALI/ARDS and establish its quantitative diagnostic criteria. Methods The extravascular lung water index (EVLWI) and the pulmonary vascular permeability index (PVPI) were measured using the transpulmonary thermodilution method in 266 patients with PaO2/FiO2 ratio ? 300 mmHg and bilateral infiltration on chest radiography, in 23 ICUs of academic tertiary referral hospitals. Pulmonary edema was defined as EVLWI ? 10 ml/kg. Three experts retrospectively determined the pathophysiological features of respiratory insufficiency by considering the patients' history, clinical presentation, chest computed tomography and radiography, echocardiography, EVLWI and brain natriuretic peptide level, and the time course of all preceding findings under systemic and respiratory therapy. Results Patients were divided into the following three categories on the basis of the pathophysiological diagnostic differentiation of respiratory insufficiency: ALI/ARDS, cardiogenic edema, and pleural effusion with atelectasis, which were noted in 207 patients, 26 patients, and 33 patients, respectively. EVLWI was greater in ALI/ARDS and cardiogenic edema patients than in patients with pleural effusion with atelectasis (18.5 ± 6.8, 14.4 ± 4.0, and 8.3 ± 2.1, respectively; P < 0.01). PVPI was higher in ALI/ARDS patients than in cardiogenic edema or pleural effusion with atelectasis patients (3.2 ± 1.4, 2.0 ± 0.8, and 1.6 ± 0.5; P < 0.01). In ALI/ARDS patients, EVLWI increased with increasing pulmonary vascular permeability (r = 0.729, P < 0.01) and was weakly correlated with intrathoracic blood volume (r = 0.236, P < 0.01). EVLWI was weakly correlated with the PaO2/FiO2 ratio in the ALI/ARDS and cardiogenic edema patients. A PVPI value of 2.6 to 2.85 provided a definitive diagnosis of ALI/ARDS (specificity, 0.90 to 0.95), and a value < 1.7 ruled out an ALI/ARDS diagnosis (specificity, 0.95). Conclusion PVPI may be a useful quantitative diagnostic tool for ARDS in patients with hypoxemic respiratory failure and radiographic infiltrates. Trial registration UMIN-CTR ID UMIN000003627 PMID:23232188

  10. Neuroblastoma in Children: Just Diagnosed Information

    MedlinePLUS

    ... Meet the Supporters Blog Donate Now Select Page Neuroblastoma in Children – Just Diagnosed Home > Understanding Children’s Cancer > ... Diagnosed Just Diagnosed In Treatment After Treatment Diagnosing Neuroblastoma Depending on the location of the tumor and ...

  11. Results from a 1-year, open-label, single arm, multi-center trial evaluating the efficacy and safety of oral Deferasirox in patients diagnosed with low and int-1 risk myelodysplastic syndrome (MDS) and transfusion-dependent iron overload.

    PubMed

    Nolte, F; Höchsmann, B; Giagounidis, A; Lübbert, M; Platzbecker, U; Haase, D; Lück, A; Gattermann, N; Taupitz, M; Baier, M; Leismann, O; Junkes, A; Schumann, C; Hofmann, W K; Schrezenmeier, H

    2013-01-01

    The majority of patients with myelodysplastic syndrome (MDS) present with anemia and will become dependent on regular transfusions of packed red blood cells (PRBC) with the risk of iron overload (IOL). Liver iron content best reflects the total body iron content, and measurement of liver iron concentration (LIC) by MRI is a validated tool for detection, but data in MDS is rather limited. Here we present the results of a multi-center trial evaluating the efficacy and safety of deferasirox (DFX) in low and intermediate-1 risk MDS patients with transfusion-dependent IOL. Three patients with transfusion frequency of >?4 units PRBC per month were initially treated with 30 mg/kg/day while in 46 patients with a lower transfusion burden deferasirox was initiated at 20 mg/kg/day, due to patient related reasons one patient received DFX in a dose of 6 mg/kg/day only. LIC was measured by MRI at baseline and end of study using the method by St. Pierre et al. The intention to treat population consisted of 50 MDS patients (28 male; 22 female) with a median age of 69 years who were treated with DFX for a median duration of 354 days. Mean daily dose of DFX was 19 mg/kg/day. Median serum ferritin level (SF) at baseline was 2,447 ng/mL and decreased to 1,685 ng/mL (reduction by 31 %) at end of study (p?=?0.01). In 7 (13 %) patients the initially chosen dose had to be increased due to unsatisfactory efficacy of chelation therapy. For 21 patients, LIC measurement by liver MRI was performed at baseline and for 19 of these patients at the end of study: mean LIC decreased significantly from 16,8 mg/g dry tissue weight (± 8.3 mg/g dry tissue weight) at study entry to 10,8 mg/g dry tissue weight (± 10.4 mg/g dry tissue weight) at end of study (p?=?0.01). Of all patients exposed to the study drug (n?=?54), 28 (52 %) did not complete the 12 month study period most commonly due to AEs in 28 % (n?=?15) and abnormal laboratory values in 7 % (n?=?4), respectively. The most common adverse events (??10 % of all patients) with suspected drug relationship were diarrhea (n?=?25, 46 %), nausea (n?=?13, 24 %), upper abdominal pain (n?=?8, 15 %), serum creatinine increase (n?=?16, 30 %) and rash (n?=?5, 9 %). Adverse events making dose adjustments or interruption of study drug necessary occurred in 33 patients (61 %). Hematologic improvement according to IWG criteria (2006) was observed in 6 patients (11 %). Initiation of treatment of IOL with DFX depending on the transfusion burden yields sufficient reduction of excess iron indicated by serum ferritin levels and most importantly by liver MRI. The safety profile of DFX was comparable to previous observations. PMID:23073603

  12. Autistic Disorder Symptoms in Rett Syndrome

    ERIC Educational Resources Information Center

    Wulffaert, Josette; Van Berckelaer-Onnes, Ina A.; Scholte, Evert M.

    2009-01-01

    According to the major classification systems it is not possible to diagnose a comorbid autistic disorder in persons with Rett syndrome. However, this is a controversial issue, and given the level of functioning of persons with Rett syndrome, the autistic disorder is expected to be present in a comparable proportion as in people with the same…

  13. Tarsal tunnel syndrome.

    PubMed

    Gould, John S

    2011-06-01

    Tarsal tunnel syndrome, unlike its similar sounding counterpart in the hand, is a significantly misunderstood clinical entity. Confusion concerning the anatomy involved, the presenting symptomatology, the appropriateness and significance of various diagnostic tests, conservative and surgical management, and, finally, the variability of reported results of surgical intervention attests to the lack of consensus surrounding this condition. The terminology involved in various diagnoses for chronic heel pain is also a hodgepodge of poorly understood entities. PMID:21600447

  14. Anesthetic management of maternal Mirror syndrome.

    PubMed

    Tayler, E; DeSimone, C

    2014-11-01

    Mirror syndrome (Ballantyne syndrome, triple edema, maternal hydrops, pseudotoxemia) is a rarely diagnosed condition associated with pregnancy that can be life-threatening for both the mother and fetus. There is limited literature on its pathogenesis and anesthetic management, making prevention and treatment complex. The duration of pregnancy and severity of maternal or fetal presentation often determines outcome. We describe the anesthetic considerations of a morbidly obese parturient with Mirror syndrome. PMID:25066819

  15. Metabolic syndrome

    MedlinePLUS

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

  16. Gardner Syndrome

    MedlinePLUS

    ... Gardner syndrome? Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP) , which usually causes benign, ... is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation, meaning an alteration in the APC ...

  17. Down Syndrome

    MedlinePLUS

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

  18. Down Syndrome

    MedlinePLUS

    ... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  19. Cushing's Syndrome

    MedlinePLUS

    ... being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare endocrine ... and cure the disorder. NIH Patient Recruitment for Cushing's Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

  20. 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 ...

  1. Dravet Syndrome

    MedlinePLUS

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

  2. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    DOEpatents

    Smith, Desmond J. (Oakland, CA); Rubin, Edward M. (Berkeley, CA)

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  3. Lemierre's syndrome (necrobacillosis)

    PubMed Central

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

    1999-01-01

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

  4. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    PubMed Central

    Manjima, S.; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome. PMID:25821359

  5. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    PubMed

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome. PMID:25821359

  6. Ankle Fractures Often Not Diagnosed

    MedlinePLUS

    ... News, Videos & Podcasts » Articles » Text Size Print Bookmark Ankle Fractures Often Not Diagnosed Long-term Complications Result from Poor Recovery Mistaking an ankle fracture for an ankle sprain has serious consequences ...

  7. How Is an Aneurysm Diagnosed?

    MedlinePLUS

    ... Is an Aneurysm Diagnosed? If you have an aortic aneurysm but no symptoms, your doctor may find it ... or abdominal pain. If you have an abdominal aortic aneurysm (AAA), your doctor may feel a throbbing mass ...

  8. How Is Lactose Intolerance Diagnosed?

    MedlinePLUS

    ... following tests also can help diagnose lactose intolerance: Hydrogen breath test. For this test, a person drinks ... beverage that has lactose in it. Then, the hydrogen level in the breath is measured at set ...

  9. How Are Learning Disabilities Diagnosed?

    MedlinePLUS

    ... with plans that improve learning. 5 Role of SLPs All SLPs are trained in diagnosing and treating speech- and language-related disorders. A SLP can provide a complete language evaluation as well ...

  10. Diagnosis of cracked tooth syndrome

    PubMed Central

    Mathew, Sebeena; Thangavel, Boopathi; Mathew, Chalakuzhiyil Abraham; Kailasam, SivaKumar; Kumaravadivel, Karthick; Das, Arjun

    2012-01-01

    The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS) in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this article is to highlight factors that contribute to detecting cracked teeth. PMID:23066261

  11. Dementia diagnostic criteria in Down syndrome

    PubMed Central

    Sheehan, Rory; Sinai, Amanda; Bass, Nick; Blatchford, Pippa; Bohnen, Ingrid; Bonell, Simon; Courtenay, Ken; Hassiotis, Angela; Markar, Therese; McCarthy, Jane; Mukherji, Kamalika; Naeem, Asim; Paschos, Dimitrios; Perez-Achiaga, Natalia; Sharma, Vijaya; Thomas, David; Walker, Zuzana; Strydom, Andre

    2015-01-01

    Objective Dementia is a common clinical presentation among older adults with Down syndrome. The presentation of dementia in Down syndrome differs compared with typical Alzheimer’s disease. The performance of manualised dementia criteria in the International Classification of Diseases (ICD)-10 and Diagnostic and Statistical Manual of Mental Disorders-IV-Text Revision (DSM-IV-TR) is uncertain in this population. We aimed to determine the concurrent validity and reliability of clinicians’ diagnoses of dementia against ICD-10 and DSM-IV-TR diagnoses. Validity of clinical diagnoses were also explored by establishing the stability of diagnoses over time. Methods We used clinical data from memory assessments of 85 people with Down syndrome, of whom 64 (75.3%) had a diagnosis of dementia. The cases of dementia were presented to expert raters who rated the case as dementia or no dementia using ICD-10 and DSM-IV-TR criteria and their own clinical judgement. Results We found that clinician’s judgement corresponded best with clinically diagnosed cases of dementia, identifying 84.4% cases of clinically diagnosed dementia at the time of diagnosis. ICD-10 criteria identified 70.3% cases, and DSM-IV-TR criteria identified 56.3% cases at the time of clinically diagnosed dementia. Over time, the proportion of cases meeting ICD-10 or DSM-IV-TR diagnoses increased, suggesting that experienced clinicians used their clinical knowledge of dementia presentation in Down syndrome to diagnose the disorder at an earlier stage than would have been possible had they relied on the classic description contained in the diagnostic systems. Conclusions Clinical diagnosis of dementia in Down syndrome is valid and reliable and can be used as the standard against which new criteria such as the DSM-5 are measured. PMID:25363568

  12. Eagle's Syndrome.

    PubMed

    Elimairi, Imad; Baur, Dale A; Altay, Mehmet Ali; Quereshy, Faisal A; Minisandram, Amritha

    2015-12-01

    Eagle's Syndrome (ES) refers to a symptomatic anomaly due to elongation of the styloid process or mineralization of the styloid complex. If not diagnosed timely and treated properly, elongation of the styloid process or the hyper-mineralization of the stylohyoid ligament may eventually lead to complete ossification of the stylohyoid complex. Non-specific head and neck symptoms of the ES may pose diagnostic challenges to the clinician. Therefore it is crucial to include ES among differential diagnosis when evaluating patients with similar head and neck symptoms. Once the diagnosis is confirmed, treatment plan should be tailored in accordance with the individual requirements of the case and performed without delay. Both pharmacological and surgical methods have been described for the treatment of the patients with ES. However for those who suffer from persistent symptoms, surgical removal of the elongated styloid process is the treatment of choice and can be done with an intraoral or an extraoral approach. The aim of this work is to present unusual clinical symptoms and radiologic findings of ES due to complete ossification of the stylohyoid complex. The importance of a correct diagnosis and appropriate treatment are highlighted. PMID:25537830

  13. Moyamoya Syndrome: A Window of Moyamoya Disease

    PubMed Central

    Phi, Ji Hoon; Wang, Kyu-Chang; Lee, Ji Yeoun

    2015-01-01

    Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena. PMID:26180607

  14. Psychosomatic syndromes and anorexia nervosa

    PubMed Central

    2013-01-01

    Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

  15. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-01-01

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life. PMID:26224572

  16. Imaging Cardiovascular Manifestations of Genetic Syndromes.

    PubMed

    Shah, Soham; Ashwath, Ravi; Rajiah, Prabhakar

    2016-01-01

    Congenital structural cardiovascular defects are commonly associated and found concurrently with many different types of genetic diseases and syndromes. Understanding these cardiovascular manifestations is essential for diagnosing these genetic syndromes without delay and provides prompt attention and repair of life-threatening defects without complications. Computed tomography and magnetic resonance imaging are increasingly used in the evaluation of cardiovascular abnormalities, and it is imperative for radiologists to be cognizant of the syndromes associated with these abnormalities. In this article, we review the cardiovascular manifestations of the common genetic syndromes and illustrate the role of computed tomography and magnetic resonance imaging in the evaluation of these abnormalities. PMID:26163737

  17. Early diagnosis of Usher syndrome in children.

    PubMed Central

    Mets, M B; Young, N M; Pass, A; Lasky, J B

    2000-01-01

    PURPOSE: To screen severe to profound, preverbal hearing-impaired children for Usher syndrome by ophthalmologic examinations, including electroretinographic testing. These patients are especially good candidates for early cochlear implants, which will improve listening and spoken language skills. METHODS: Consecutive patients over 2 years of age, given a diagnosis of severe to profound, preverbal hearing loss, were screened for Usher syndrome by a complete ophthalmologic examination including an electroretinogram. RESULTS: Five of 48 patients screened (10.4%) were diagnosed with Usher syndrome and received cochlear implants. CONCLUSION: All children with severe to profound, preverbal sensorineural hearing loss should be screened for Usher syndrome by ophthalmologic examination including electroretinogram. PMID:11190026

  18. [Syndromes 12. Turner syndrome].

    PubMed

    Verdonck, A; van Erum, R

    1999-07-01

    Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan. PMID:11930372

  19. Prenatal Diagnosis of WAGR Syndrome

    PubMed Central

    Tezcan, Berrin; Rich, Philip; Bhide, Amarnath

    2015-01-01

    Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11. PMID:26605098

  20. Polycystic Ovary Syndrome in Adolescence

    PubMed Central

    Buggs, Colleen; Rosenfield, Robert L.

    2012-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefore, identifying girls at risk for PCOS and implementing treatment early in the development of PCOS may be an effective means of preventing some of the long-term complications associated with this syndrome. This article reviews the definition, clinical features, diagnosis, and treatment of PCOS. PMID:16085166

  1. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.

    PubMed

    Ke, Ronghu; Yang, Xianxian; Ge, Min; Cai, Tianyi; Lei, Jiaqi; Mu, Xiongzheng

    2015-03-01

    It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome. PMID:25759927

  2. Davidoff-Dyke-Masson Syndrome Presenting as Childhood Schizophrenia.

    ERIC Educational Resources Information Center

    White, James H.; Rust, John B.

    1979-01-01

    The article presents a case history of a child displaying symptoms of schizophrenia, seizures, and retardation without neurological abnormalities, which were eventually diagnosed as being due to Davidoff-Dyke-Masson syndrome, a condition involving gross anatomical brain pathology. (DLS)

  3. Genetics Home Reference: 1p36 deletion syndrome

    MedlinePLUS

    ... individuals are likely never diagnosed. What are the genetic changes related to 1p36 deletion syndrome? 1p36 deletion ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  4. New Genetic Susceptibility Factors for Sjögren's Syndrome Revealed

    MedlinePLUS

    ... 2000 1999 Spotlight on Research 2014 March 2014 New Genetic Susceptibility Factors for Sjögren’s Syndrome Revealed By ... the journal Nature Genetics, could help researchers develop new strategies to diagnose and treat the condition. In ...

  5. Perinatal Outcome in the Liveborn Infant with Prenatally Diagnosed Omphalocele

    PubMed Central

    KOMINIAREK, Michelle A.; ZORK, Noelia; PIERCE, Sara Michelle; ZOLLINGER, Terrell

    2013-01-01

    Objective To compare perinatal outcomes between liveborn non-isolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Study Design Fetuses (n=86) with omphalocele were identified between 1995–2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks gestation, available fetal and/or neonatal karyotype, and a liveborn infant (n=46). Perinatal outcomes were compared in non-isolated (n=23) and isolated omphaloceles (n=23). Results For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 vs. 2704g), median length of stay (27 vs. 25 days), and mortality (2 in each group) was not different between the non-isolated and isolated groups, P>0.05. In the non-isolated group, 7 major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8(35%) were diagnosed with a syndrome or other anomalies after birth. Conclusion The outcomes were similar in non-isolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies. PMID:21544770

  6. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... brought about by birth defect, disease or trauma. Apert syndrome Carpenter syndrome Carpenter Syndrome belongs to a group ... FAQs CCAkids Blog CCA Web Store Cher Syndromes • Apert syndrome • Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • ...

  7. Usher Syndrome

    MedlinePLUS

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  8. Hunter syndrome

    MedlinePLUS

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

  9. Klinefelter Syndrome

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

  10. Metabolic Syndrome

    MedlinePLUS

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

  11. 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, ...

  12. Cushing syndrome

    MedlinePLUS

    Cushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol. ... The most common cause of Cushing syndrome is taking too much ... of this type of medicine. Glucocorticoids mimic the action ...

  13. Cushing's Syndrome

    MedlinePLUS

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  14. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... Is there any treatment? There is no specific therapy for Angelman syndrome. Medical therapy for seizures is ...

  15. Apert syndrome with omphalocele: a case report.

    PubMed

    Ercoli, Gabriel; Bidondo, María Paz; Senra, Blanca Cristina; Groisman, Boris

    2014-09-01

    Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. PMID:25045033

  16. Postconcussion Syndrome: A Review.

    PubMed

    Barlow, Karen M

    2016-01-01

    Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. PMID:25330797

  17. Is It Antiphospholipid Syndrome?

    PubMed Central

    Ditto, Maria Chiara; Antivalle, Marco; Badini, Matteo; Battellino, Michele; Cogliati, Chiara; Sarzi-Puttini, Piercarlo

    2010-01-01

    The diagnosis of bacterial endocarditis remains a challenge, as nearly half of cases develop in the absence of preexistent heart disease and known risk factors. Not infrequently, a blunted clinical course at onset can lead to erroneous diagnoses. We present the case of a 47-year-old previously healthy man in which a presumptive diagnosis of antiphospholipid syndrome was made based on the absence of echocardiographically detected heart involvement, a negative blood culture, normal C-reactive protein (CRP) levels, a positive lupus anticoagulant (LAC) test, and evidence of splenic infarcts. The patient eventually developed massive aortic endocarditic involvement, with blood cultures positive for Streptococcus bovis, and was referred for valvular replacement. This case not only reminds us of the diagnostic challenges of bacterial endocarditis, but also underlines the need for a critical application of antiphospholipid syndrome diagnostic criteria. PMID:21318137

  18. 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 ...

  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. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  1. Doege-Potter Syndrome.

    PubMed

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes. PMID:26414372

  2. Diagnosing and treating cannabinoid hyperemesis.

    PubMed

    Wilson, Olivia; Lutton, Stuart; Doherty, Kelly

    2015-12-01

    Cannabinoid hyperemesis is a newly emerging syndrome that manifests as intractable nausea and vomiting in people who regularly smoke cannabis. The signs and symptoms are relieved by bathing in hot water and by stopping smoking cannabis but are unresponsive to antiemetics. This article briefly examines the possible causes and clinical presentation of the condition and uses a case study to describe the management of patients. PMID:26638755

  3. Precordial catch syndrome in children.

    PubMed

    Reynolds, J L

    1989-10-01

    Precordial catch syndrome was diagnosed in ten children whose primary complaint was chest pain. From published reports, nine characteristics of the pain were derived and their occurrence rate determined retrospectively in the ten patients. A close correspondence in type of pain was found between patients in previous reports and those I studied. Precordial catch pain typically is sudden, brief, periapical, easily localized, nonradiating, nonexertional, and importantly, intensified by inspiration. This study further validates the syndrome, reports its occurrence in children in the United States for the first time, and indicates more certainly the pain attributes one seeks for diagnosis. PMID:2678498

  4. Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

    PubMed

    Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

    2014-11-01

    Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome. PMID:25489577

  5. Malouf Syndrome with Hypergonadotropic Hypogonadism and Cardiomyopathy: Two-Case Report and Literature Review

    PubMed Central

    ?ilfeler, Dilek Benk; Karateke, Atilla; Keskin Kurt, Raziye; Aldemir, Özgür; Bu?ra Nacar, Alper; Balo?lu, Ali

    2014-01-01

    Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. Later on, Narahara diagnosed another sporadic case with the same findings. A survey of relevant literature leads us to three women cases in total. Here we present two cases of Malouf syndrome and literature review. PMID:25544917

  6. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes. PMID:19280943

  7. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    ERIC Educational Resources Information Center

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  8. Autism Profiles of Males With Fragile X Syndrome

    ERIC Educational Resources Information Center

    Harris, Susan W.; Hessl, David; Goodlin-Jones, Beth; Ferranti, Jessica; Bacalman, Susan; Barbato, Ingrid; Tassone, Flora; Hagerman, Paul J.; Herman, Kristin; Hagerman, Randi J.

    2008-01-01

    Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria…

  9. Drowning as a Cause of Death in Angelman Syndrome.

    ERIC Educational Resources Information Center

    Ishmael, Holly A.; Begleiter, Michael L.; Butler, Merlin G.

    2002-01-01

    This study reports on a 9-year-old boy previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. The case illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. The need for supervision is stressed. (Contains 5…

  10. Velocardiofacial Syndrome and Early Intervention Providers: Recommendations for Intervention

    ERIC Educational Resources Information Center

    Boyer, Valerie E.; Fullman, Leah I.; Bruns, Deborah A.

    2012-01-01

    Velocardiofacial syndrome (VCFS), the most common microdeletion syndrome, is increasingly diagnosed in young children because of advances in diagnostic testing. The result is an increase in the number of young children with VCFS referred for early intervention (EI) services. We describe early development of children with VCFS and strategies to…

  11. Diagnosing and managing peripartum headache

    PubMed Central

    Wang, Jia; Gelpi, Brian; Wortman, Alison; Tao, Weike

    2015-01-01

    A 38-year-old gravida 7 para 5 Hispanic woman at 36 weeks and 4 days gestation presented with a postpartum headache following vaginal delivery complicated by an unintentional dural puncture for epidural analgesia. Due to the positional nature of the headache and its frontal and occipital origin, a postdural puncture headache was diagnosed. After failure of conservative treatment, an epidural blood patch was used, which offered immediate relief. However, shortly following the procedure, the parturient's neurological condition deteriorated due to an unrecognized intraparenchymal and subarachnoid hemorrhage requiring an emergent craniectomy. This case highlights the importance of diligence when evaluating and treating postpartum headache despite a classic presentation. PMID:26424942

  12. Diagnosing and managing peripartum headache.

    PubMed

    Grant, Erica N; Wang, Jia; Gelpi, Brian; Wortman, Alison; Tao, Weike

    2015-10-01

    A 38-year-old gravida 7 para 5 Hispanic woman at 36 weeks and 4 days gestation presented with a postpartum headache following vaginal delivery complicated by an unintentional dural puncture for epidural analgesia. Due to the positional nature of the headache and its frontal and occipital origin, a postdural puncture headache was diagnosed. After failure of conservative treatment, an epidural blood patch was used, which offered immediate relief. However, shortly following the procedure, the parturient's neurological condition deteriorated due to an unrecognized intraparenchymal and subarachnoid hemorrhage requiring an emergent craniectomy. This case highlights the importance of diligence when evaluating and treating postpartum headache despite a classic presentation. PMID:26424942

  13. [Psychosocial approach to Diogenes syndrome].

    PubMed

    Furtos, Jean

    2015-01-01

    Abnormal hoarding of random items in the home associated with severe self-neglect and neglect of one's environment, Diogenes syndrome is transnosographic. It can affect all social classes, people without any diagnosed mental health condition or patients with psychosis or dementia, over 60s and young people. It is conveyed by self-exclusion at home, a "poor precarity" which leads to a loss of the ability to trust others and ask for help. PMID:26100289

  14. How Is a Heart Attack Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is a Heart Attack Diagnosed? Your doctor will diagnose a heart attack ... This Content: NEXT >> Featured Video What is a heart attack? 05/22/2014 Describes how a heart attack ...

  15. How Do Health Care Providers Diagnose Vulvodynia?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose vulvodynia? Skip sharing on social media ... been ruled out. To diagnose vulvodynia, 1 a health care provider may recommend that a woman have blood ...

  16. Autoantibodies and overlap syndromes in autoimmune rheumatic disease

    PubMed Central

    Jury, E; D'Cruz, D; Morrow, W

    2001-01-01

    Many patients diagnosed with autoimmune rheumatic disease cannot be categorised easily into one of the established clinical entities such as systemic lupus erythematosus, dermatomyositis, or systemic sclerosis. The term "overlap syndrome" has been increasingly used to identify such patients and is useful in terms of clarifying prognosis and facilitating disease management. This article reviews overlap syndrome in autoimmune rheumatic disease, with particular emphasis on the associated serological markers. Key Words: autoantibodies • overlap syndromes • autoimmune rheumatic disease PMID:11328831

  17. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases. PMID:19434382

  18. Why Metabolic Syndrome Matters

    MedlinePLUS

    ... High Blood Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  19. Marine-Lenhart syndrome in a young girl.

    PubMed

    ?en, Ya?ar; Cimbek, Emine Ayça; Yuca, Sevil Ar?; Gedik, Gonca Kara; Sar?, Oktay

    2014-01-01

    Graves' disease is the most common reason of hyperthyroidism in children. Graves' disease with accompanying functioning nodules is defined as Marine-Lenhart syndrome. This syndrome has not been described in children before. Here, a 15-year-old girl with Graves' disease and a coexisting cold nodule is presented. A thyroid scan showed diffuse uptake of Tc-99m pertechnatate in both lobes and decreased uptake in accordance with the left lobe nodule. The nodule was histologically diagnosed as benign. The patient was diagnosed with type 1 diabetes mellitus and polyglandular autoimmune syndrome during clinical follow-up. The differential diagnoses of Graves' disease with coexisting nodules should include the Marine-Lenhart syndrome. Treatment options should be determined taking this rare condition into account. PMID:24057592

  20. [Polycystic ovary syndrome].

    PubMed

    Vrbíková, Jana

    2015-10-01

    For diagnosing of polycystic ovary syndrome (PCOS) it is currently recommended to follow the ESHRE criteria. For diagnosis according to them two of the following three symptoms are sufficient: 1. morphology of polycystic ovaria, 2. clinical manifestations of hyperandrogenism or laboratory proof of hyperandrogenemia, and 3. oligo-anovulation. PCOS is a complex disorder in whose pathogenesis genetic and environmental effects interact. It is not a gynecological disorder alone, the syndrome is accompanied by insulin resistance which leads to increased incidence of type 2 diabetes mellitus and impaired glucose tolerance (4 times and twice, independently of BMI). Also gestational DM occurs more frequently. Dyslipidemia, arterial hypertension, elevated CRP and homocysteine levels, endothelial dysfunction and greater intima-media thickness are also more frequent. It is not quite clear, however, whether women with PCOS suffer cardiovascular events more frequently as well. More often than is accidental PCOS is associated with depression, anxiety and eating disorders, further with nonalcoholic steatohepatitis and with the sleep apnoea syndrome - especially in obese women. Therapeutic measures include non-pharmacological methods - lifestyle adjustments focused on weight reduction in obese individuals, cosmetic measures for dermatologic manifestation of hyperandrogenism, in particular laser and pharmacotherapy (combined hormonal contraceptives and antiandrogens). Menstrual irregularities can be treated with contraceptives or cyclical administration of gestagens, also metformin can be used.Key words: antiandrogens - diabetes mellitus - hormonal contraception - insulin resistance - ischemic heart disease - metformin. PMID:26486483

  1. Broken Heart Syndrome

    PubMed Central

    Therkleson, Tessa; Stronach, Shona

    2015-01-01

    This case describes a combination external treatment for “Broken Heart Syndrome” that includes a lavender footbath, massage using moor extract, and oxalis ointment to the abdomen applied by an Anthroposophic nurse for a specific personality type. Lavender footbaths have been used since ancient times for relaxation and calming, while moor extract has been used medicinally in Europe since the middle ages for warmth and environmental protection. Rhythmical massage using moor extract and oxalis ointment poultice to the abdomen are part of the tradition of Anthroposophic nursing when managing stress induced by emotional and physical trauma. An elderly lady with specific characteristics diagnosed as Broken Heart Syndrome received one treatment a week for 4 weeks given by an Anthroposophic nurse at an integrative medical center. Between treatments, education was given to enable self-treatment in the home. The nursing treatments, each using lavender footbaths, moor extract massage, and oxalis ointment poultice to the abdomen, proved very effect, and no negative effects were reported. External applications need to be considered by nurses caring for specific personality types with Broken Heart Syndrome. PMID:25673580

  2. Acute compartment syndrome

    PubMed Central

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

    2015-01-01

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

  3. Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

    PubMed

    Ramappa, Muralidhar; Wilson, M Edward; Rogers, R Curtis; Trivedi, Rupal H

    2014-10-01

    We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions. PMID:25266838

  4. Employees' Knowledge of Carpal Tunnel Syndrome.

    ERIC Educational Resources Information Center

    Gandy-Goldston, Terrie M.

    A study examined employees' knowledge of the causes of carpal tunnel syndrome (CTS), its prevention, and their legal rights after being diagnosed with CTS. A 24-item questionnaire was administered to a random sample of 30 Chicago-area employees who had been afflicted with CTS. Of those surveyed, 99% considered their CTS injury related to their…

  5. Hunter's Syndrome: Description and Educational Considerations.

    ERIC Educational Resources Information Center

    Naggs, Teresa

    This paper describes characteristics of and educational implications for children with Hunter's syndrome, a rare, genetic lysomal storage disorder resulting from an absence of the enzyme iduronate-2-sulphatase. Boys born with this sex-linked disease are born with little or no clinical manifestations, but generally are diagnosed by the age of three…

  6. Aging in Rare Intellectual Disability Syndromes

    ERIC Educational Resources Information Center

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  7. Brown's syndrome: diagnosis and management.

    PubMed Central

    Wright, K W

    1999-01-01

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

  8. Is Complex Regional Pain Syndrome a Cause of Post-Operative Syndrome in the Lumbar Spine? - A Case Report -

    PubMed Central

    Kim, Tae Kyun; Shim, Dae Moo; Kim, Yeung Jin; Choi, Deok Hwa

    2009-01-01

    Complex regional pain syndrome (CRPS) along with post-operative syndrome in the lumbar spine shows confusing and duplicated symptoms, and this makes it difficult to make a clear differential diagnosis. Therefore, the patient with post-operative syndrome in the lumbar spine suffers losses of time and money, and the surgeon who diagnoses and treats post-operative syndrome in the lumbar spine also agonize from the patient's losses. It is necessary to provide these patients with a multidisciplinary approach to their disease and symptoms. We diagnosed herniation of an intervertebral disc of the lumbar spine (L4/5) and we performed discetomy twice in different hospitals. However, the symptoms did not improve, so we re-operated and performed discetomy along with monosegmental fixation using pedicular screws and interbody cages. There was improvement of pre-operation symptoms, but neurogenic symptoms occurred and then progressed after the surgery. Therefore, we report here on the case of CRPS that was diagnosed with the exclusion of the causes of post-operative syndrome in the lumbar spine, and the patient was finally effectively treated with spinal cord stimulation. Although differentiating post-operative syndrome in the lumbar spine from CRPS is difficult, we recommend suspecting CRPS as the cause of post-operative syndrome in the lumbar spine and taking CRPS as the main interest in order to diagnose and treat CRPS more effectively and accurately. PMID:20404955

  9. Reiter's syndrome.

    PubMed

    Schneider, Joseph M; Matthews, Jeanette H; Graham, Bradley S

    2003-03-01

    Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis. PMID:12661746

  10. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. PMID:26259326

  11. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    PubMed

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. PMID:25880674

  12. A Case of Vogt-Koyanagi-Harada Disease Associated With Polycystic Ovary Syndrome

    PubMed Central

    Kaya, Mehmet Kaan; Turgut, Burak; Demir, Tamer; Celiker, Ulku; Gurates, Bilgin

    2011-01-01

    We report a female patient diagnosed as Vogt-Koyanagi-Harada (VKH) and polycystic ovary syndrome (PCOS). She has diagnosed as VKH with diminished vision, bilateral serous retinal detachment, the signs of fundus fluorescein angiography and the findings of optical coherence tomography. The patient was referred to the gynecology clinic for her complaints as weight gain, hirsutismus and amenorrhea. She has also been diagnosed with PCOS. With oral steroid treatment, visual acuity has improved and the detachments have resolved within a month. VKH disease may be associated with polycystic ovary syndrome. The two conditions may have a common autoimmune pathogenesis. Keywords Autoimmune pathogenesis; Polycystic ovary syndrome; Vogt-Koyanagi-Harada PMID:21811536

  13. Diagnosing Common Benign Skin Tumors.

    PubMed

    Higgins, James C; Maher, Michael H; Douglas, Mark S

    2015-10-01

    Patients will experience a wide range of skin growths and changes over their lifetime. Family physicians should be able to distinguish potentially malignant from benign skin tumors. Most lesions can be diagnosed on the basis of history and clinical examination. Lesions that are suspicious for malignancy, those with changing characteristics, symptomatic lesions, and those that cause cosmetic problems may warrant medical therapy, a simple office procedure (e.g., excision, cryosurgery, laser ablation), or referral. Acrochordons are extremely common, small, and typically pedunculated benign neoplasms. Simple scissor or shave excision, electrodesiccation, or cryosurgery can be used for treatment. Sebaceous hyperplasia presents as asymptomatic, discrete, soft, pale yellow, shiny bumps on the forehead or cheeks, or near hair follicles. Except for cosmesis, they have no clinical significance. Lipomas are soft, flesh-colored nodules that are easily moveable under the overlying skin. Keratoacanthomas are rapidly growing, squamoproliferative benign tumors that resemble squamous cell carcinomas. Early simple excision is recommended. Pyogenic granuloma is a rapidly growing nodule that bleeds easily. Treatment includes laser ablation or shave excision with electrodesiccation of the base. Dermatofibromas are an idiopathic benign proliferation of fibroblasts. No treatment is required unless there is a change in size or color, bleeding, or irritation from trauma. Epidermal inclusion cysts can be treated by simple excision with removal of the cyst and cyst wall. Seborrheic keratoses and cherry angiomas generally do not require treatment. PMID:26447443

  14. [Diagnosing and therapy of gout].

    PubMed

    Pavelka, Karel

    2015-06-01

    Gout is an inflammatory, metabolically conditioned crystal-induced disease. Prevalence of gout is on the increase. In clinical practice it is frequently wrongly diagnosed and the therapy of acute attacks in particular is not adequate. The first part of the publication discusses diagnostic possibilities of gouty arthritis. First of all the advantage of the analysis of synovial exudate and of direct evidence of crystals in the polarization microscope is emphasized. If the material for crystallographic analysis is not available, it is necessary to use a combination of clinical criteria as specified e.g. in the recommendations of the European League Against Rheumatism (EULAR). The second part focuses on the therapy of gout which is divided into the periods of asymptomatic hyperuricemia, acute gouty attack, intercritical and chronic tophaceous gout. Asymptomatic hyperuricemia is only treated when uricemia greater than 540 µmol/l occur repeatedly, or when other risk factors and comorbidities are present. In the treatment of acute gouty attack its early start is more important than the choice of a preparation. Alternatives are NSA, colchicine or glucocorticoids. A newly regist-ered medicine for the treatment of refractory acute inflammation is the IL-1 inhibitor canakinumab. The treatment of hyperuricemia involves regimen and diet measures, abstinence and hypouricemic therapy. Available are the xanthine oxidase inhibitors, allopurinol and febuxostat; the latter is better suited for patients with moderate renal insufficiency. A new medicine for the treatment of severe refractory tophaceous gout is pegloticase.Key words: gouty arthritis - colchicine - nonsteroidal antirheumatic drugs. PMID:26258966

  15. Reversible Cerebral Vasoconstriction Syndrome and Posterior Reversible Encephalopathy Syndrome Presenting with Deep Intracerebral Hemorrhage in Young Women

    PubMed Central

    Lee, Won Jae; JO, Kyung-Il; Kim, Jong-Soo; Hong, Seung-Chyul

    2015-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a group of syndromes characterized by reversible segmental constriction of cerebral arteries. Posterior reversible encephalopathy syndrome (PRES) is another clinical-radiologic syndrome characterized by reversible, posterior-predominant brain edema. Although the exact causes of these reversible syndromes are poorly understood, these entities may share some common pathophysiologic elements leading to hemorrhagic strokes and rarely, deep intracerebral hemorrhage (ICH). Recent studies have suggested that endothelial dysfunction is a common pathophysiologic factor associated with these syndromes. We report on two young female patients who presented with deep ICH and were later diagnosed as RCVS and PRES. Both patients suffered from vasoconstriction and delayed ischemic stroke. Early detection of distinguishing clinical-radiologic features associated with these reversible syndromes and removing triggers would facilitate successful treatment with no complications. PMID:26523259

  16. Down's syndrome and early cataract

    PubMed Central

    Haargaard, B; Fledelius, H C

    2006-01-01

    Aims To estimate the occurrence of early cataract among patients with Down's syndrome and to evaluate the clinical characteristics of the cases. Methods Cases with Down's syndrome were ascertained from a cohort of all Danish children between 0 and 17?years of age, who were diagnosed with cataract during the period 1977–2001 (n?=?1027). Information on the patients was obtained from the medical records. Results Of the total of 1027 cases with non?traumatic, non?acquired cataract there were 29 cases (13 males, 16 females) with Down's syndrome (2.8%). This corresponds to an occurrence of early cataract among patients with Down's syndrome of 1.4%; 27 had bilateral cataract and two had unilateral cataract. Half of the patients (n?=?14) underwent cataract surgery, of whom two had bilateral primary lens implantation. 10 patients had bilateral cataract observed soon after birth, and five of these underwent cataract surgery within the first 6?months of life. Conclusion The frequency of early cataract among children with Down's syndrome is estimated to be 1.4%, with cataracts requiring surgery during childhood being even rarer. In one third of the 29 cases, bilateral cataract was detected in the neonatal period. PMID:16672328

  17. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    PubMed Central

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

  18. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  19. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  20. Ascher syndrome: Review of literature and case report

    PubMed Central

    Ramesh, B. A.

    2011-01-01

    A 13 year old girl presented with aesthetic deformity of upper lip since birth. She also presented with eyelid swelling on and off for 11 months. She was diagnosed to be a rare case of Ascher syndrome. Ascher syndrome commonly presents with double lip and blepharochalasis, sometimes associated with goitre. The deformity of her double upper lip was corrected by appropriate surgery. Because her blepharochalasis is in active stage now, she is under periodic follow up for appropriate intervention. This article describes the management of the patient and brief overview of the syndrome. Ascher syndrome is often missed or misdiagnosed commonly. PMID:21713204

  1. Coping with the diagnostic complexities of the compartment syndrome

    NASA Technical Reports Server (NTRS)

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

    1988-01-01

    This review recognizes that, given the various complexities associated with the condition, no pat answers can be given to fit every patient with the compartment syndrome. The authors first give a definition of the syndrome, together with a brief account of how this self-perpetuating pathologic cycle is triggered. Next, they delineate specific anatomical features of compartments that are likely to be involved, and follow this with an inventory of symptoms and signs to look for in suspected cases. After sorting out the entities that can mimic the compartment syndrome, the authors describe three essential techniques of measuring tissue pressure, which can prove invaluable in diagnosing the compartment syndrome.

  2. Gorlin-Goltz syndrome: A series of three cases

    PubMed Central

    Patankar, Amod P.; Kshirsagar, Rajesh A.; Dugal, Arun; Mishra, Akshay; Ram, Hari

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS. PMID:25937738

  3. Inherited bone marrow failure syndromes in adolescents and young adults.

    PubMed

    Wilson, David B; Link, Daniel C; Mason, Philip J; Bessler, Monica

    2014-09-01

    The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed. PMID:24888387

  4. Inherited bone marrow failure syndromes in adolescents and young adults

    PubMed Central

    Wilson, David B.; Link, Daniel C.; Mason, Philip J.; Bessler, Monica

    2015-01-01

    The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed. PMID:24888387

  5. Novel approaches in diagnosing tuberculosis

    NASA Astrophysics Data System (ADS)

    Kolk, Arend H. J.; Dang, Ngoc A.; Kuijper, Sjoukje; Gibson, Tim; Anthony, Richard; Claassens, Mareli M.; Kaal, Erwin; Janssen, Hans-Gerd

    2011-06-01

    The WHO declared tuberculosis (TB) a global emergency. An estimated 8-9 million new cases occur each year with 2-3 million deaths. Currently, TB is diagnosed mostly by chest-X ray and staining of the mycobacteria in sputum with a detection limit of 1x104 bacteria /ml. There is an urgent need for better diagnostic tools for TB especially for developing countries. We have validated the electronic nose from TD Technology for the detection of Mycobacterium tuberculosis by headspace analysis of 284 sputum samples from TB patients. We used linear discriminant function analysis resulting in a sensitivity of 75% a specificity of 67% and an accuracy of 69%. Further research is still required to improve the results by choosing more selective sensors and sampling techniques. We used a fast gas chromatography- mass spectrometry method (GC-MS). The automated procedure is based on the injection of sputum samples which are methylated inside the GC injector using thermally assisted hydrolysis and methylation (THM-GC-MS). Hexacosanoic acid in combination with tuberculostearic acid was found to be specific for the presence of M. tuberculosis. The detection limit was similar to microscopy. We found no false positives, all microscopy and culture positive samples were also found positive with the THM-GC-MS method. The detection of ribosomal RNA from the infecting organism offers great potential since rRNA molecules outnumber chromosomal DNA by a factor 1000. It thus may possible to detect the organism without amplification of the nucleic acids (NA). We used a capture and a tagged detector probe for the direct detection of M. tuberculosis in sputum. So far the detection limit is 1x106 bacteria / ml. Currently we are testing a Lab-On-A-Chip Interferometer detection system.

  6. Radiation-induced moyamoya syndrome

    SciTech Connect

    Desai, Snehal S.; Paulino, Arnold C. . E-mail: apaulino@tmh.tmc.edu; Mai, Wei Y.; Teh, Bin S.

    2006-07-15

    Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22-120 Gy). For NF-1-positive patients, the average RT dose was 46.5 Gy, and for NF-1-negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4-240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome.

  7. Still's disease, lupus-like syndrome, and silicone breast implants. A case of 'ASIA' (Shoenfeld's syndrome).

    PubMed

    Jara, L J; Medina, G; Gómez-Bañuelos, E; Saavedra, M A; Vera-Lastra, O

    2012-02-01

    In recent years, four conditions, siliconosis, Gulf War syndrome (GWS), macrophagic myofasciitis syndrome (MMF) and post-vaccination phenomena, were linked to a previous exposure to an adjuvant, suggesting a common denominator, and it has been proposed to incorporate comparable conditions under a common syndrome entitled Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA). We report a case of a female who at the age of 11 years was diagnosed with Still's disease. At the age of 22 she underwent silicone breast implants and presented with a transient lupus-like syndrome. Then, at 25 years old she had a severe activation of Still's disease in association with rupture of silicone breast implants. When the prostheses were removed, the clinical picture improved. This case fulfills the criteria for ASIA and complements seven previous reports of Still's disease in association with silicone breast implants. PMID:22235044

  8. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

    PubMed Central

    Gondim, Francisco de Assis Aquino; Tavares Júnior, José Wagner Leonel; Morais, Arlindo A.; Sales, Paulo Marcelo Gondim; Wagner, Horta Goes

    2015-01-01

    Background Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS. PMID:26217545

  9. Premenstrual syndrome

    MedlinePLUS

    ... that: Start during the second half of the menstrual cycle (14 or more days after the first day ... much higher during the second half of the menstrual cycle. Mood disorders need to be diagnosed and treated.

  10. [Autoinflammatory syndromes/fever syndromes].

    PubMed

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

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

  11. Pervasive refusal syndrome among asylum-seeking children.

    PubMed

    Von Folsach, Liv Lyngå; Montgomery, Edith

    2006-07-01

    A number of asylum-seeking children in Sweden have developed a pervasive loss of function associated with profound social withdrawal. The syndrome is called Depressive Devitalization. The aim of this study was to identify possible aetiological factors, outline the similarities between Depressive Devitalization and Pervasive Refusal Syndrome and to explore possible differential diagnoses. The research was based on a literature study. Databases searched included PsychINFO, Medline, Pub med, COCHRANE and PILOTS. Possible aetiological factors identified included: Children having a perfectionist, ambitious and conscientious premorbid personality, psychiatric problems of children and parents, and traumatic events. Symptoms between the two syndromes differed only in pattern of refusal and neurological symptoms. None of the differential diagnoses explored could account for all features. The individual impact of aetiological factors requires further investigation. Children might previously have been diagnosed with a number of differential diagnoses, though none of these accounts for all symptoms seen in the syndromes. Depressive Devitalization and Pervasive Refusal Syndrome are suggested to be subgroups of the same refusal syndrome. PMID:17080781

  12. Aicardi syndrome

    MedlinePLUS

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

  13. Tourette Syndrome

    MedlinePLUS

    ... Tourette (pronounced: tuh-RET) syndrome, named for the French doctor Georges Gilles de la Tourette, who first ... get the condition. Doctors and researchers are continually learning new information about TS and what might lead ...

  14. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ? Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  15. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  16. Duane Syndrome

    MedlinePLUS

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  17. Potter syndrome

    MedlinePLUS

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  18. Rett Syndrome

    MedlinePLUS

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

  19. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  20. Usher Syndrome

    MedlinePLUS

    ... called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) ... to progress rapidly until the person is completely blind. Type 2 Children with type 2 Usher syndrome ...

  1. Serotonin syndrome

    MedlinePLUS

    ... syndrome will be considered. Tests may include: Blood cultures (to check for infection) Complete blood count (CBC) CT scan of the brain Drug (toxicology) and alcohol screen Electrolyte levels Electrocardiogram (ECG) Kidney and liver ...

  2. Sjogren's Syndrome

    MedlinePLUS

    ... recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. What research is being done? The goals of research on disorders such as Sjögren's syndrome ...

  3. 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 ...

  4. Marfan Syndrome

    MedlinePLUS

    ... de fácil lectura) Other Information Heritable Disorders of Connective Tissue, Q&A Order a NIAMS publication to be ... syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to ...

  5. Marfan Syndrome

    MedlinePLUS

    ... disorder in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think of ... a special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in ...

  6. 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 ...

  7. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  8. Behcet's Syndrome

    MedlinePLUS

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

  9. Klinefelter Syndrome

    MedlinePLUS

    ... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

  10. Metabolic Syndrome

    MedlinePLUS

    ... to Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... to insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  11. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  12. Klinefelter syndrome

    MedlinePLUS

    ... arthritis , and Sjogren syndrome Breast cancer in men Depression Learning disabilities, including dyslexia, which affects reading A rare type of tumor called an extragonadal germ cell tumor Lung disease Osteoporosis Varicose veins

  13. Fanconi syndrome

    MedlinePLUS

    ... common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys Wilson's disease ...

  14. Down Syndrome

    MedlinePLUS

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

  15. Non-epileptic clinical diagnoses in children referred for an outpatient EEG using video monitoring.

    PubMed

    Apakama, Okwuchi; Appleton, Richard

    2006-06-01

    Simultaneous video (closed circuit television [CCTV]) and EEG recordings are important in the differentiation of epileptic and non-epileptic paroxysmal episodes and in the classification of epilepsy syndromes. An additional benefit from the observation of the child on CCTV is the possible identification of specific clinical, including genetic, conditions. This three-year prospective study of 2780 consecutive children undergoing routine EEG investigations identified 17 conditions that had not previously been diagnosed by the clinicians who had requested the EEG. PMID:16793578

  16. [Peripheral anticholinergic syndrome].

    PubMed

    Valencia Zavala, Martha Patricia; Vega Robledo, Gloria Bertha; Sánchez Olivas, Jesús Alberto; Sánchez Olivas, Manuel A; Montes Montes, José; Duarte Díaz, Rosa Janet; León Oviedo, Cristóbal

    2007-01-01

    This is a case report of a woman of 38 years old, studied and analyzed at the service of allergy and immunology with clinical manifestations of allergic rhinitis; studies of laboratory, cabinet and intradermal test were made to corroborate this diagnosis and the treatment with specific hyposensitization, oral antihistaminines and inhaled steroids was started. Two years later the patient referred urinary retention without important antecedents, so, a peripheral anticholinergic syndrome (PAS) was suspected, a urodynamic test study was carried out consisting in a uroflujometry, static and dynamic urethral profile, cystometry, flow pressure study and electromyography, which diagnosed low urinary obstruction (functional) and vesical sphincter pseudodysfunction, demonstrating the PAS associated with oral antihistamines. PMID:17542247

  17. Snapping pes anserine syndrome.

    PubMed

    Rainey, Charles E; Taysom, Danielle A; Rosenthal, Michael D

    2014-01-01

    The patient was a 25-year-old man who was serving in the military. He was referred to a physical therapist for a progressively worsening painful snapping sensation in the posteromedial left knee region. Prior magnetic resonance imaging for the left knee was interpreted as normal, except for a mild fluid signal about the left pes anserine bursa. The patient was diagnosed with snapping pes anserine syndrome. However, despite 6 weeks of physical therapist intervention, the patient did not improve. A dynamic real-time ultrasound examination was then ordered, which demonstrated that the pes anserine tendons changed position as the knee moved from flexion to extension, sliding across a heterogeneous rounded mass in the posteromedial knee. PMID:24380407

  18. Swallowable Camera To Help Diagnose Esophagus Disorders

    E-print Network

    Chiao, Jung-Chih

    knbc.com Swallowable Camera To Help Diagnose Esophagus Disorders POSTED: 10:57 am PST December 21 to diagnose esophagus disorders like acid reflux. A patient swallows the disposable miniature camera Esophagus Disorders - Print This Story News Story - KNBC ... URL: http://www.knbc.com/print/14907252/detail

  19. How Is von Willebrand Disease Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is von Willebrand Disease Diagnosed? Early diagnosis of von Willebrand disease (VWD) is important to make sure that ... diagnose the disorder. These tests may include: Von Willebrand factor antigen. This test measures the amount of ...

  20. Moderating Effects of Challenging Behaviors and Communication Deficits on Social Skills in Children Diagnosed with an Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara

    2013-01-01

    One-hundred nine children 3-16 years of age diagnosed with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's Syndrome were studied. Children resided in six states in the United States. Using moderation analysis via multiple regression, verbal communication and challenging behaviors and how they interact…

  1. Essential Points of a Support Network Approach for School Counselors Working with Children Diagnosed with Asperger's

    ERIC Educational Resources Information Center

    Guo, Yuh-Jen; Wang, Shu-Ching; Corbin-Burdick, Marilyn F.; Statz, Shelly R.

    2013-01-01

    Asperger Syndrome (AS) presents unique challenges to both families and schools. Children diagnosed with Asperger's possess unparalleled characteristics in cognitive functioning and behavioral pattern. These children need extra attention and assistance in schools. School counselors require a strategy to successfully engage and support these…

  2. Hyperimmunoglobulin E syndrome

    MedlinePLUS

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

  3. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact ... en Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition caused ...

  4. Post-Polio Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome ... Español Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

  5. Shaken Baby Syndrome

    MedlinePLUS

    NINDS Shaken Baby Syndrome Information Page Table of Contents (click to jump to sections) What is Shaken Baby Syndrome? Is there ... Trials Organizations Publicaciones en Español What is Shaken Baby Syndrome? Shaken baby syndrome is a type of ...

  6. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  7. Facts about Down Syndrome

    MedlinePLUS

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... families affected by Down syndrome » What is Down Syndrome? Down syndrome is a condition in which a ...

  8. Miller Fisher Syndrome

    MedlinePLUS

    NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents (click to jump to sections) What is Miller Fisher ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired ...

  9. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  10. Wernicke's Encephalopathy Mimicking Acute Onset Stroke Diagnosed by CT Perfusion

    PubMed Central

    Advani, Rajiv; Kurz, Kathinka D.; Kurz, Martin W.

    2014-01-01

    Background. Metabolic syndromes such as Wernicke's encephalopathy may present with a sudden neurological deficit, thus mimicking acute onset stroke. Due to current emphasis on rapid admission and treatment of acute stroke patients, there is a significant risk that these stroke mimics may end up being treated with thrombolysis. Rigorous clinical and radiological skills are necessary to correctly identify such metabolic stroke mimics, in order to avoid doing any harm to these patients due to the unnecessary use of thrombolysis. Patient. A 51-year-old Caucasian male was admitted to our hospital with suspicion of an acute stroke due to sudden onset dysarthria and unilateral facial nerve paresis. Clinical examination revealed confusion and dysconjugate gaze. Computed tomography (CT) including a CT perfusion (CTP) scan revealed bilateral thalamic hyperperfusion. The use of both clinical and radiological findings led to correctly diagnosing Wernicke's encephalopathy. Conclusion. The application of CTP as a standard diagnostic tool in acute stroke patients can improve the detection of stroke mimics caused by metabolic syndromes as shown in our case report. PMID:24716022

  11. The Relationship of Repetitive Behavior and Sensory Behavior to Parenting Stress in Mothers of Boys with Autism and Mothers of Boys with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Richardson, Lolita Lisa

    2010-01-01

    This study investigated the relationship between repetitive behaviors and sensory behavior to the parenting stress of mothers of boys with fragile X syndrome and mothers of boys with autism. Participants consisted of two groups: 51 mothers with boys diagnosed with fragile X syndrome (M = 71.3, SD = 56.5) and 30 mothers with boys diagnosed with…

  12. Spontaneous Gestural Communication as a Predictor of Autism Spectrum Diagnosis in Children with Fragile X Syndrome

    E-print Network

    Esplund, Amy

    2015-05-31

    This study aimed to determine if early spontaneous gestural communication is a predictor of later Autism Spectrum Disorder (ASD) diagnosis in children who have already been diagnosed with Fragile X Syndrome (FXS). The communication samples of 49...

  13. Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

    PubMed Central

    Sharma, Deepak; Lamba, Sachin; Pandita, Aakash; Shastri, Sweta

    2015-01-01

    Klippel–Trénaunay syndrome (KTS or KT) is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands), venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop) overgrowing of limb and correction of bone deformity. PMID:25861232

  14. Association of Adrenocortical Carcinoma with Familial Cancer Susceptibility Syndromes

    PubMed Central

    Else, Tobias

    2012-01-01

    Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ACC is part of the classical tumor spectrum of LFS and Beckwith-Wiedemann syndrome (BWS). In adults ACC has been reported in patients with multiple endocrine neoplasia (MEN1), familial adenomatous polyposis coli (FAP) and neurofibromatosis type 1 (NF1). However, the evidence associating ACC with these syndromes is less well substantiated. Here, we will review the evidence for genetic predisposition in general and the association with known familial cancer susceptibility syndromes in particular. We will also review current recommendations regarding screening and surveillance of these patients as they apply to a specialized ACC or endocrine cancer clinic. PMID:22209747

  15. [When is it a diagnosis of overlap syndrome?].

    PubMed

    Alexa, Ioana Dana; Paraschiv, Oana; Constantinescu, Gina; Panaghiu, Larisa; Palade, Florentina

    2003-01-01

    The connective tissue diseases comprise a group of syndromes of unknown etiology affecting as many as 1 person in 40, often with a predilection for the female sex. Included are: systemic lupus erytematosus (SLE), polymyositis and dermatomyositis, Sjögren syndrome, scleroderma and the vasculitis (polyarteritis nodosa, Wegener's, giant cell arteritis). There are patients who are not easily defined; having features overlapping with those of other connective tissue diseases. A variety of terms such as mixed connective tissue disease, undifferentiated connective tissue syndrome and overlap syndrome have emerged to describe such patients. Although many of these overlap syndromes are unlikely to have life-threatening consequences, they may be extremely debilitating and distressing, significantly reducing quality of life for the patient and his or her family. We present the case of a patient initially diagnosed with dermatomyositis and who eventually evolved to overlap syndrome by developing SLE. PMID:14755959

  16. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    PubMed Central

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J.

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients. PMID:26101683

  17. Reversible postural orthostatic tachycardia syndrome

    PubMed Central

    Abdulla, Aza; Rajeevan, Thirumagal

    2015-01-01

    Postural orthostatic tachycardia syndrome (POTS) is a relatively rare syndrome recognised since 1940. It is a heterogenous condition with orthostatic intolerance due to dysautonomia and is characterised by rise in heart rate above 30 bpm from base line or to more than 120 bpm within 5-10 min of standing with or without change in blood pressure which returns to base line on resuming supine position. This condition present with various disabling symptoms such as light headedness, near syncope, fatigue, nausea, vomiting, tremor, palpitations and mental clouding, etc. However there are no identifiable signs on clinical examination and patients are often diagnosed to have anxiety disorder. The condition predominantly affects young female between the ages of 15-50 but is rarely described in older people. We describe an older patient who developed POTS which recovered over 12 mo. Recognising this condition is important as there are treatment options available to alleviate the disabling symptoms. PMID:26244158

  18. Compartment syndromes

    NASA Technical Reports Server (NTRS)

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

    1989-01-01

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

  19. Neonatal Withdrawal Syndrome, Michigan, 2000–2009

    PubMed Central

    Hekman, Kimberly A.; Grigorescu, Violanda I.; Cameron, Lorraine L.; Miller, Corinne E.; Smith, Ruben A.

    2015-01-01

    Background Neonatal withdrawal syndrome, which is associated most frequently with opioid use in pregnancy, is an emerging public health concern, with recent studies documenting an increase in the rate of U.S. infants diagnosed. Purpose This study examined neonatal withdrawal syndrome diagnosis among Michigan infants from 2000 to 2009 and hospital length of stay (LOS) between infants with and without the syndrome for a subset of years (2006–2009). Methods Michigan live birth records from 2000 to 2009 were linked with hospital discharge data to identify infants with neonatal withdrawal syndrome. Linked data were restricted to infants born between 2006 and 2009 to examine the difference in hospital LOS between infants with and without the syndrome. Multivariable regression models were constructed to examine the adjusted impact of syndrome diagnosis on infant LOS and fit using negative binomial distribution. Data were analyzed from July 2011 to February 2012. Results From 2000 to 2009, the overall birth rate of infants with neonatal withdrawal syndrome increased from 41.2 to 289.0 per 100,000 live births (p<0.0001). Among infants born from 2006 to 2009, the average hospital LOS for those with the syndrome was between 1.36 (95% CI=1.24, 1.49) and 5.75 (95% CI=5.41, 6.10) times longer than for infants without it. Conclusions Diagnosis of neonatal withdrawal syndrome increased significantly in Michigan with infants who had the syndrome requiring a significantly longer LOS compared to those without it. PMID:23790996

  20. Flammer syndrome

    PubMed Central

    2014-01-01

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

  1. Flammer syndrome.

    PubMed

    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

    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

  2. Food Protein-Induced Enterocolitis Syndrome.

    PubMed

    Leonard, Stephanie A; Nowak-W?grzyn, Anna

    2015-12-01

    Food protein-induced enterocolitis syndrome (FPIES) is a rare, non-immunoglobulin E-mediated gastrointestinal food allergy primarily diagnosed in infancy, but has also been reported in older children and adults. Acute FPIES reactions typically present with delayed, repetitive vomiting, lethargy, and pallor within 1 to 4 hours of food ingestion. Chronic FPIES typically presents with protracted vomiting and/or diarrhea, and weight loss or poor growth. Common foods triggering FPIES include cow's milk, soy, rice, oats, fish, and egg. More detailed diagnostic criteria may help in increasing awareness of FPIES and reducing delayed diagnoses or misdiagnoses. PMID:26456444

  3. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  4. Klippel-Trenaunay syndrome complicating pregnancy

    PubMed Central

    González-Mesa, Ernesto; Blasco, Marta; Andérica, José; Herrera, José

    2012-01-01

    The Klippel-Trenaunay syndrome is a rare congenital disorder that affects one or more limbs. It is characterised by cutaneous vascular nevi, venous malformations and hypertrophy of soft tissues and bone. There are very few cases reported in pregnant women, so the level of uncertainty is high when it appears during gestation. It is a disease that increases obstetric risk and can exacerbate complications, mainly thromboembolic and haemorrhagic. We report below the case of a pregnant woman diagnosed with this syndrome and the multidisciplinary management held in our centre. PMID:22854239

  5. Type VI Aplasia Cutis Congenita: Bart's Syndrome

    PubMed Central

    Kulal?, Ferit; Bas, Ahmet Yagmur; Kale, Yusuf; Celik, Istemi Han; Demirel, Nihal; Apayd?n, Sema

    2015-01-01

    Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions. PMID:26609453

  6. How Is Heart Valve Disease Diagnosed?

    MedlinePLUS

    ... Trials Links Related Topics Congenital Heart Defects Endocarditis Heart Murmur How the Heart Works Mitral Valve Prolapse Send ... Diagnosed? Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, ...

  7. How Is a Heart Murmur Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is a Heart Murmur Diagnosed? Doctors use a stethoscope to listen to ... especially with physical exertion), dizziness, or fainting. Evaluating Heart Murmurs When evaluating a heart murmur, your doctor will ...

  8. Diagnosing Asthma in Very Young Children

    MedlinePLUS

    ... Listen Español Text Size Email Print Share Diagnosing Asthma in Babies & Toddlers Article Body One of the ... family with recurrent bronchitis or sinus problems. When Asthma is Not the Cause Your pediatrician will listen ...

  9. How Are Pelvic Floor Disorders Diagnosed?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How are pelvic floor disorders diagnosed? Skip sharing on social media links ... fee ). This test is used to evaluate the pelvic floor and rectum while the patient is having a ...

  10. Diagnosing Diabetes and Learning about Prediabetes

    MedlinePLUS

    ... Size: A A A Listen En Español Diagnosing Diabetes and Learning About Prediabetes There are several ways ... mg/dl – 199 mg/dl Preventing Type 2 Diabetes You will not develop type 2 diabetes automatically ...

  11. How Do Health Care Providers Diagnose Endometriosis?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose endometriosis? Skip sharing on social media ... under a microscope, to confirm the diagnosis. 1 Health care providers may also use imaging methods to produce ...

  12. How Do Health Care Providers Diagnose Pheochromocytoma?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose pheochromocytoma? Skip sharing on social media links Share this: Page Content A health care provider uses blood and urine tests that measure ...

  13. How Do Health Care Providers Diagnose Hypoparathyroidism?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose hypoparathyroidism? Skip sharing on social media links Share this: Page Content A health care provider will order a blood test to determine ...

  14. Coping When You're Newly Diagnosed

    MedlinePLUS

    ... and ultimately surviving when you’re first diagnosed. Shock and Denial The shock of learning you have PH can be overwhelming. ... the grieving process, the apathy associated with prolonged shock and denial can sometimes prevent patients from seeking ...

  15. Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report

    PubMed Central

    Kwon, Young-Joon

    2014-01-01

    Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

  16. Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation.

    PubMed

    Ikeda, Keiichi; Mizuguchi, Masato; Ebisawa, Toshihiro; Yoshida, Masaki; Uchida, Hiroyuki; Okabe, Hideaki; Sekita, Toru; Tojo, Katsuyoshi; Tajima, Naoko; Hosoya, Tatsuo

    2003-05-01

    A 52-year-old man with Chilaiditi syndrome and mental retardation was admitted to Kanagawa Rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary. PMID:12793711

  17. Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

    PubMed

    Bondavalli, Davide; White, Susan M; Steer, Andrew; Pflaumer, Andreas; Winship, Ingrid

    2015-04-01

    We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed clinically nor genetically. Coincidentally, Birt Hogg Dubé syndrome (BHD) had been previously diagnosed in members of the extended family; this prompted a diagnostic re-evaluation of the child who was found to have the known family FLCN mutation. We recommend consideration of cardiac rhabdomyomas as part of the clinical BHD spectrum. PMID:25655561

  18. Nutcracker Syndrome Complicated by Left Renal Vein Thrombosis

    PubMed Central

    Mallat, Faouzi; Hmida, Wissem; Jaidane, Mehdi; Mama, Nadia; Mosbah, Faouzi

    2013-01-01

    Isolated renal vein thrombosis is a rare entity. We present a patient whose complaint of flank pain led to the diagnosis of a renal vein thrombosis. In this case, abdominal computed tomography angiography was helpful in diagnosing the nutcracker syndrome complicated by the renal vein thrombosis. Anticoagulation was started and three weeks later, CTA showed complete disappearance of the renal vein thrombosis. To treat the Nutcracker syndrome, we proposed left renal vein transposition that the patient consented to. PMID:24349817

  19. Basal encephalocele associated with morning glory syndrome: case report.

    PubMed

    Minotto, Ivanete; Abdala, Nitamar; Miachon, Adriana Aparecida Siviero; Spinola e Castro, Angela Maria; Imamura, Paulo; Nogueira, Roberto Gomes

    2007-12-01

    The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging. PMID:18094860

  20. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

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

  1. Levator Syndrome

    MedlinePLUS

    ... Normal (News) Small Hospitals Seeing More Drug-Resistant E. Coli Infections Additional Content Medical News Levator Syndrome By Parswa ... News HealthDay Small Hospitals Seeing More Drug-Resistant E. Coli Infections WEDNESDAY, Oct. 14, 2015 (HealthDay News) -- Drug-resistant ...

  2. Alport Syndrome

    MedlinePLUS

    ... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

  3. Pendred Syndrome

    MedlinePLUS

    ... to gain communication skills, such as learning sign language or cued speech or learning to use a hearing aid . Most people with Pendred syndrome will have hearing loss significant enough to be considered ... speech, and language. Use the following keywords to help you find ...

  4. Validation of the Children's Interview for Psychiatric Syndromes (ChIPS) with Psychiatrically Hospitalized Adolescents

    ERIC Educational Resources Information Center

    Swenson, Lance P.; Esposito-Smythers, Christianne; Hunt, Jeffrey I.; Hollander, Beth L. G.; Dyl, Jennifer; Rizzo, Christie J.; Steinley, Douglas L.; Spirito, Anthony

    2007-01-01

    A study was conducted to examine the concurrent validity of the Children's Interview for Psychiatric Syndromes (ChIPS) for adolescent inpatients aged 12 to 18. The results reveal moderate agreement between ChIPS diagnoses and Schedule for Affective Disorder sand Schizophrenia for School-Age Children-Present and Lifetime version diagnoses.

  5. Tourette Syndrome: A Collaborative Approach Focused on Empowering Students, Families and Teachers

    ERIC Educational Resources Information Center

    Christner, Beth; Dieker, Lisa A.

    2008-01-01

    Tourette syndrome (TS) is a neurobiological disorder marked by a wide range of involuntary motor and vocal movements and sounds called "tics" (American Psychiatric Association, APA, 2000). This syndrome is frequently misunderstood and difficult to diagnose (Chamberlain, 2003). Recent television shows featuring the topic of TS such as "The Oprah…

  6. Living with Lowe's Syndrome. A Guide for Families, Friends, and Professionals.

    ERIC Educational Resources Information Center

    Lowe's Syndrome Association, Inc., West Lafayette, IN.

    The document describes Lowe's syndrome, a hereditary condition that affects only males and is typically diagnosed during the first year of life. Effects of Lowe's syndrome on the eyes (cataracts, glaucoma, corneal degeneration, and strabismus) are discussed, as well as related problems with the central nervous system, muscles, kidneys, bones, and…

  7. Referral Pattern and Special Interests in Children and Adolescents with Asperger Syndrome: A Turkish Referred Sample

    ERIC Educational Resources Information Center

    Tanidir, Canan; Mukaddes, Nahit M.

    2014-01-01

    Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey. Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using…

  8. Phenotypic Checklist To Screen for Fragile X Syndrome in People with Mental Retardation.

    ERIC Educational Resources Information Center

    Maes, B.; Fryns, J. P.; Ghesquiere, P.; Borghgraef, M.

    2000-01-01

    A study investigated the effectiveness of a phenotypic checklist for identifying 110 males with fragile X syndrome and 79 controls, matched for age, level of cognitive development, and social adaptation. Results indicated that those boys who are likely to be diagnosed as having fragile X syndrome can be identified. (Contains references.)…

  9. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature

    PubMed Central

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases. PMID:26029310

  10. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

    PubMed Central

    Barnum, Richard

    2014-01-01

    Conversion Disorder (CD) is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly) diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially) patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely) event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care. PMID:24808723

  11. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS syndrome): a paraneoplastic syndrome

    PubMed Central

    Kumar, Sunil; Sharma, Shruti

    2015-01-01

    POEMS syndrome (Crow–Fukase syndrome) is a rare paraneoplastic disorder. It is characterized by peripheral neuropathy, elevated vascular endothelial growth factors (VEGFs), monoclonal gammopathy, sclerotic bone lesions and Castleman disease. Other important clinical features are organomegaly, edema, ascites, papilledema, endocrinopathy, skin changes and thrombocytosis. A high index of suspicion, a detailed clinical history and examination followed by appropriate laboratory investigations like VEGF level, radiological skeletal survey and bone marrow biopsy are required to diagnose POEMS syndrome. We report a case of POEMS syndrome who presented with insidious onset, progressive sensorimotor polyneuropathy, pedal edema, ascites, hepatomegaly, skin changes and hypothyroidism. X-ray of the pelvis showed osteosclerotic lesions. Immunoelectrophoresis using the immunofixation method revealed lambda chain monoclonal gammopathy. The patient was given radiotherapy, followed by a combination therapy of melphalan and dexamethasone. We emphasize the importance of recognizing a challenging diagnosis of a rare disease, which is shown to be treatment responsive. PMID:26634133

  12. [Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report].

    PubMed

    Almeida, Sandra Flávia Fiorentini de; Solari, Helena Parente

    2007-01-01

    A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis. PMID:17505732

  13. Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

    PubMed

    Thors, Valtyr S; Vastert, Sebastiaan J; Wulffraat, Nico; van Royen, Annet; Frenkel, Joost; de Sain-van der Velden, Monique; de Koning, Tom J

    2014-02-01

    Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory disease is caused by mutations encoding the mevalonate kinase (MVK) gene and is classified in the group of periodic fever syndromes. There is often a considerable delay in the diagnosis among pediatric patients with recurrent episodes of fever. We present a case of an 8-week-old girl with fever of unknown origin and a marked systemic inflammatory response. After excluding infections, a tentative diagnosis of incomplete Kawasaki syndrome was made, based on the finding of dilated coronary arteries on cardiac ultrasound and fever, and she was treated accordingly. However, the episodes of fever recurred, and alternative diagnoses were considered, which eventually led to the finding of increased excretion of mevalonic acid in urine. The diagnosis of MKD was confirmed by mutation analysis of the MVK gene. This case shows that the initial presentation of MKD can be indistinguishable from incomplete Kawasaki syndrome. When fever recurs in Kawasaki syndrome, other (auto-)inflammatory diseases must be ruled out to avoid inappropriate diagnostic procedures, ineffective interventions, and treatment delay. PMID:24470648

  14. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    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…

  15. Proteus syndrome: what the anesthetist should know.

    PubMed

    Sethi, Divya

    2015-08-01

    Proteus syndrome (PS), a rare hamartomatous disorder, manifests itself in asymmetric and disproportionate overgrowth of multiple body tissues. Because of complexity of the disorder, the anesthetic problems encountered during patients' perioperative management are very varied. We discuss the case of a 14-year-old adolescent boy diagnosed with PS who underwent corrective osteotomy of right knee joint under subarachnoid block. The salient points the anesthetists need to be aware of while caring for patients with PS are highlighted. PMID:25921368

  16. Imaging findings of Gorlin-Goltz syndrome.

    PubMed

    Hajalioghli, Parisa; Ghadirpour, Ali; Ataie-Oskuie, Reza; Kontzialis, Marinos; Nezami, Nariman

    2015-01-01

    A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor. PMID:25610614

  17. Proteus syndrome and hypothyroidism. An unusual association.

    PubMed

    Ali, Manzoor A; Yaseen, Hakam A; Muhammed, Muhammed A

    2014-09-01

    We present a case of a 3½-year-old girl diagnosed as Proteus syndrome with severe cosmetic disfigurement-macrodactyly, hemi-hypertrophy of the face and limbs, megalencephaly, lymph edema of both hands and feet along with severe global developmental delay. She was found to have severe recalcitrant epilepsy and also primary hypothyroidism; the association of which is not mentioned in the previous literature. PMID:25228186

  18. Real-time ultrasound: Key factor in identifying celiac artery compression syndrome

    PubMed Central

    Tembey, Raina Anil; Bajaj, Aneeta S; Wagle, Prasad K; Ansari, Abdul Samad

    2015-01-01

    The median arcuate ligament syndrome (MALS) or celiac artery compression syndrome (CACS) is a rare entity, presenting clinically with postprandial abdominal pain and weight loss. The diagnosis is made on computed tomography (CT) angiography, which reveals extrinsic compression of the proximal part of the celiac artery by the median arcuate ligament, producing a characteristic hooked appearance. We report a case of the celiac artery compression syndrome, diagnosed by Doppler USG evaluation. PMID:25969647

  19. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  20. Eagle's syndrome: A rare case of young female.

    PubMed

    Baseer, Mohammad Abdul; Alenazy, Mohammed Suliman

    2013-07-01

    Eagle's syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle's syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ) conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle's syndrome. PMID:24130598

  1. Improving Multiple Fault Diagnosability using Possible Conflicts

    NASA Technical Reports Server (NTRS)

    Daigle, Matthew J.; Bregon, Anibal; Biswas, Gautam; Koutsoukos, Xenofon; Pulido, Belarmino

    2012-01-01

    Multiple fault diagnosis is a difficult problem for dynamic systems. Due to fault masking, compensation, and relative time of fault occurrence, multiple faults can manifest in many different ways as observable fault signature sequences. This decreases diagnosability of multiple faults, and therefore leads to a loss in effectiveness of the fault isolation step. We develop a qualitative, event-based, multiple fault isolation framework, and derive several notions of multiple fault diagnosability. We show that using Possible Conflicts, a model decomposition technique that decouples faults from residuals, we can significantly improve the diagnosability of multiple faults compared to an approach using a single global model. We demonstrate these concepts and provide results using a multi-tank system as a case study.

  2. [Nursing diagnoses of the elderly at home].

    PubMed

    Figueiredo, Maria do Livramento Fortes; Luz, Maria Helena Barros Araújo; de Brito, Cleidiane Maria Sales; Sousa, Suéli Nolêto Silva; da Silva, Dâmaris Rebeca Soares

    2008-01-01

    The descriptive study, with quantitative approach, that has had as objective to do the characterization of ill elderly at home attended by the ESF teams of the Satellite's District in Teresina - PI and to collect Nursing Diagnoses and it respective interventions. This descriptive study was constituted by 50 seniors interviewed at home, the results showed that most of the women in age between of 60 and 79 years were ill at home for one or five years at least. There were eight Nursing Diagnoses (ND) prevalent, in which 98% of the seniors were identified with the ND - Inadequate Control of Therapeutic Regime, and in 72% the deambulation was prejudiced with mobility's limitation and, for all diagnoses were proposed nursing interventions objectifying the conquest of autonomy and independence of these seniors. PMID:18797782

  3. Pulmonary embolus diagnosed by endobronchial ultrasound

    PubMed Central

    Segraves, Justin M.; Daniels, Craig E.

    2015-01-01

    Endobronchial ultrasound (EBUS) imaging is commonly used to evaluate and aid in biopsy of mediastinal lymph nodes. Pulmonary arteries are readily viewable with this type of imaging modality. We present a case report of a pulmonary embolism (PE) diagnosed by EBUS. Our patient had no smoking history and presented with respiratory and constitutional symptoms, urinary retention, and leg weakness suspicious for malignancy with metastasis to spine. Chest computed tomography (CT) was suggestive of lung carcinoma and specifically showed no PE. EBUS with TBNA was requested for tissue diagnosis. A mobile filling defect consistent with a PE was observed and reported to primary team. Follow-up chest CT showed an acute PE which confirmed the diagnosis originally made by EBUS. Bronchoscopists should be aware of potential to diagnose a PE while performing EBUS. Additionally, there may be a role in using EBUS specifically to diagnose a PE in the right patient population.

  4. HELLP Syndrome at 17 Weeks Gestation: A Rare and Catastrophic Phenomenon

    PubMed Central

    Berry, Erica L.; Iqbal, Sara N.

    2015-01-01

    HELLP syndrome is a collection of symptoms described as hemolysis, elevated liver enzymes and low platelets. HELLP syndrome complicates 0.01–0.6% of pregnancies and can be considered a severe variant of preeclampsia. The occurrence of HELLP syndrome diagnosed before the 20th week of gestation has been most commonly reported in association with antiphospholipid antibody syndrome (APS) or triploid chromosomal anomalies. A 41-year-old primigravida was admitted at 17 weeks and 6 days gestation with hypertension, proteinuria, hemolytic anemia and acute renal injury. She was diagnosed with HELLP syndrome, and subsequently suffered from an intrauterine fetal demise. After delivery, the clinical manifestations of HELLP syndrome resolved within 7 days with the exception of her acute renal failure. Interdisciplinary teams of physicians were able to exclude other imitators of preeclampsia, such as hemolytic uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP), APS, lupus and acute fatty liver of pregnancy. This case is difficult to diagnose, given the similar presentation of several microangiopathic hemolytic anemias. The clinical manifestations and laboratory findings of HELLP and its mimicking conditions seem as if they are mirror images of each other. However, the discrete differences in our patient presentation, clinical findings, laboratory results and overall postpartum course leave HELLP syndrome as the most consistent diagnosis. It is imperative to investigate for all possible etiologies as HELLP syndrome at 17 weeks gestation is extremely rare and mimicking conditions may require alternative management strategies. PMID:25806101

  5. Dumping Syndrome.

    PubMed

    Hasler, William L.

    2002-04-01

    The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude fluid intake during ingestion of the solid portion of the meal. More severely affected individuals may respond to agents such as pectin and guar, which increase the viscosity of intraluminal contents, or to drugs such as the alpha-glucosidase inhibitor acarbose, which blunts the rapid absorption of glucose, and the somatostatin analog octreotide, which alters gut transit and impairs release of vasoactive mediators into the bloodstream. PMID:11879594

  6. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

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

  7. Central Pain Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  8. Carpal tunnel syndrome

    MedlinePLUS

    ... pain, numbness, tingling, or weakness. This is called carpal tunnel syndrome. ... Some people who develop carpal tunnel syndrome were born with a small carpal tunnel. Carpal tunnel syndrome can also be caused by making the same hand and ...

  9. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Career Awards Enhancing Diversity Find People About NINDS Carpal Tunnel Syndrome Fact Sheet See a list of all NINDS ... a key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median nerve, ...

  10. Down Syndrome: Eye Problems

    MedlinePLUS

    ... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  11. Toxic Shock Syndrome

    MedlinePLUS

    ... Toxic Shock Syndrome KidsHealth > Teens > Sexual Health > For Girls > Toxic Shock Syndrome Print A A A Text ... Is Toxic Shock Syndrome? If you're a girl who's had her period, you may have heard ...

  12. Complex Regional Pain Syndrome

    MedlinePLUS

    ... NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, Causalgia Condensed from Complex Regional ... Tel: 813-907-2312 Fax: 813-830-7446 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) P.O. Box ...

  13. Reye syndrome - resources

    MedlinePLUS

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

  14. Ramsay Hunt syndrome

    MedlinePLUS

    Hunt syndrome; Herpes oticus ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus is believed to infect the ...

  15. Heart and Down Syndrome

    MedlinePLUS

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

  16. Down Syndrome (For Parents)

    MedlinePLUS

    ... Kids Deal With Bullies Pregnant? What to Expect Down Syndrome KidsHealth > Parents > Diseases & Conditions > Genetic, Chromosomal & Metabolic Conditions > ... Screening and Diagnosis Resources That Can Help About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  17. National Down Syndrome Society

    MedlinePLUS

    donate Entire Site Down Syndrome Resources Ways to Give My Great Story Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 666 Broadway, ...

  18. What Causes Down Syndrome?

    MedlinePLUS

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

  19. Ectopic Cushing syndrome

    MedlinePLUS

    ... in which a tumor outside the pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... syndrome include: Cushing disease Cushing syndrome caused by adrenal tumor Exogenous Cushing syndrome

  20. Sexuality and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  1. Sturge-Weber Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Sturge-Weber Syndrome Information Page Synonym(s): Encephalotrigeminal Angiomatosis Table of ... being done? Clinical Trials Organizations What is Sturge-Weber Syndrome? Sturge-Weber syndrome is a neurological disorder ...

  2. Tethered Spinal Cord Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  3. Restless Legs Syndrome

    MedlinePLUS

    ... Legs Syndrome Overview What is restless legs syndrome (RLS)? Restless legs syndrome (also called RLS) is a condition in which your legs feel ... age and becomes a problem for older adults. RLS can make sleeping and traveling difficult and uncomfortable. ...

  4. Learning about Down Syndrome

    MedlinePLUS

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  5. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

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

  6. [Nager syndrome].

    PubMed

    Opitz, C; Shetty, D K; Witkowski, R

    1998-05-01

    In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated. PMID:9658800

  7. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy

    PubMed Central

    Park, Yeon-Hee; Choi, Jae-Woo; Jung, Sang-Ok; Cho, Min-Ji; Kang, Da-Hyun; Chung, Chae-Uk; Park, Dong-Il; Moon, Jae-Young; Park, Hee-Sun; Jung, Sung-Soo; Kim, Ju-Ock; Kim, Sun-Young

    2015-01-01

    Malignant mesothelioma is a rare malignant neoplasm that arises from mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis, or pericardium. Typically, pleural fluid cytology or closed pleural biopsy, surgical intervention (video thoracoscopic biopsy or open thoracotomy) is conducted to obtain pleural tissue specimens. However, endobronchial lesions are rarely seen and cases diagnosed from bronchoscopic biopsy are also rarely reported. We reported the case of a 77-year-old male who was diagnosed as malignant mesothelioma on bronchoscopic biopsy from obstructing masses of the endobronchial lesion. PMID:26175790

  8. Gitelman syndrome.

    PubMed

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

    2013-01-01

    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

  9. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  10. Cerebro-oculo-facio-skeletal syndrome.

    PubMed

    Rafique, Muhammad; Zia, Shumaila

    2012-09-01

    Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. Growth and development were severely retarded. MRI and MRS (magnetic resonance spectrometry) of brain displayed severe brain atrophy and hypo/demyelination of white matter. The relationship between COFSS and differential diagnoses, Cockayne syndrome (CS), Pena-Shokier phenotype (PSP) and Neu-Lexova syndrome (NLS) are discussed. Pre-natal diagnosis followed by appropriate management in time may be helpful to reduce its incidence in the community. PMID:22980622

  11. Signs and genetics of rare cancer syndromes with gastroenterological features

    PubMed Central

    Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

    2015-01-01

    Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects. PMID:26290627

  12. A Lacrimal Sump Syndrome With a Large Intranasal Ostium.

    PubMed

    Qian, Zhenbin; Tu, Yunhai; Xiao, Tianlin; Wu, Wencan

    2015-07-01

    Lacrimal sump syndrome is an uncommon cause of failed dacryocystorhinostomy. Small osteotomy was reported as the major cause of this syndrome. Here, the authors described the first case of a lacrimal sump syndrome with a large intranasal ostium following endoscopic endonasal dacryocystorhinostomy (EE-DCR). A 51-year-old women patient suffered recurrence of epiphora and dacryocystitis for 8 months following an EE-DCR. Examination showed a large intranasal ostium with a lot of purulent discharge and patent lacrimal irrigation. Lacrimal sump syndrome was diagnosed after passing a probe into the residual lacrimal sac under the aid of an endoscope. The residual sac was reopened and merogel was packed around the wound. The clinical symptoms disappeared after the surgery. It is indicated that lacrimal sump syndrome does happen not only in a small intranasal ostium, but also in a large intranasal ostium. Existing residual sac with bacterial infection may be related to this particular case. PMID:26091055

  13. Hepatopulmonary syndrome: an update.

    PubMed

    Macêdo, Liana Gonçalves de; Lopes, Edmundo Pessoa de Almeida

    2009-07-01

    Hepatopulmonary syndrome (HPS) is a clinical threesome composed of liver disease, intrapulmonary vascular dilatation (IPVD) and arterial gas abnormalities. Its occurrence has been described in up to 32% of cirrhotic candidates for liver transplantation. It also affects non-cirrhotic patients with portal hypertension. Its pathogenesis is not well defined, but an association of factors such as imbalance in the endothelin receptor response, pulmonary microvascular remodeling and genetic predisposition is thought to lead to IPVD. Diagnosis is based on imaging methods that identify these dilatations, such as contrast echocardiography or perfusion scintigraphy with 99mTc, as well as analysis of arterial gases to identify elevated alveolar-arterial differences in O2 or hypoxemia. There is no effective pharmacological treatment and complete resolution only occurs through liver transplantation. The importance of diagnosing HPS lies in prioritizing transplant candidates, since presence of HPS is associated with worse prognosis. The aim of this paper was to review the pathogenetic theories and current diagnostic criteria regarding HPS, and to critically analyze the prioritization of patients with HPS on the liver transplant waiting list. Searches were carried out in the Medline (Medical Literature Analysis and Retrieval System Online) via PubMed, Cochrane Library and Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) databases for articles published between January 2002 and December 2007 involving adults and written either in English or in Portuguese, using the term hepatopulmonary syndrome. The studies of greatest relevance were included in the review, along with text books and articles cited in references that were obtained through the review. PMID:20011928

  14. Types of Myelodysplastic Syndromes

    MedlinePLUS

    ... Article Close Push escape to close saved articles window. My Saved Articles » My ACS » Myelodysplastic Syndromes + - Text Size Download Printable Version [PDF] » What Is Myelodysplastic Syndrome? TOPICS ...

  15. Diagnostic Approach of Angelman Syndrome

    PubMed Central

    DUCA, Denis George; CRAIU, Dana; BOER, Monica; CHIRIEAC, Sorina Mihaela; ARGHIR, Aurora; TUTULAN-CUNITA, Andreea; BARCA, Diana; ILIESCU, Catrinel; LUNGEANU, Agripina; MAGUREANU, Sanda; BUDISTEANU, Magdalena

    2013-01-01

    ABSTRACT Background: Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder. It is caused by a variety of genetic mechanisms which all interfere with expression of the UBE3A gene on chromosome 15q11-13. Objectives: To present our experience regarding diagnosis of children with Angelman syndrome. Material and methods: 15 children were clinically and genetically diagnosed with AS in the Department of Pediatric Neurology of the "Prof. Dr. Alex. Obregia" Clinical Hospital. In all cases, diagnosis of AS was made by the clinical criteria. The clinical evaluation focused on the patient history, a general examination, dysmorphological evaluation, a neurological examination, psychological evaluation, and paraclinical tests. Results: All patients from this study presented the characteristic facial features and the characteristic behavior phenotype. Psychomotor development was delayed in all children, most of cases (73%) presenting with sever mental retardation. Epileptic seizures were observed in all patients with microdeletion, the partial seizures being the most frequent type. EEG in all children showed the characteristic pattern for AS. Conclusions: Angelman syndrome is a rare and severe neurodevelopmental disorder, with a complex clinical picture. There are some characteristic facial features, which, in association with hypopigmentation, happy disposition, jerky movements, and ataxia in a child with psychomotor delay should raise the strong suspicion of AS. PMID:24790661

  16. DIAGNOSING CAUSES OF IMPAIRMENT IN COASTAL ECOSYSTEMS

    EPA Science Inventory

    Engle, Virginia D. and Stephen J. Jordan. In press. Diagnosing Causes of Impairment in Coastal Ecosystems (Abstract). To be presented at the SETAC Fourth World Congress, 14-18 November 2004, Portland, OR. 1 p. (ERL,GB R1008).

    Estuarine and coastal ecosystems are challenge...

  17. Disseminated cutaneous histoplasmosis in newly diagnosed HIV

    PubMed Central

    Soza, Gabriela M.; Patel, Mahir; Readinger, Allison

    2016-01-01

    We present a woman with a widespread severe papulopustular eruption, fever, and fatigue of 5 weeks' duration. HIV infection was diagnosed, with an absolute CD4+ count of 3 cells/µL. The eruption was consistent with disseminated cutaneous histoplasmosis. The clinical manifestations and management of cutaneous histoplasmosis are reviewed. PMID:26722169

  18. General Cancer Support Group Newly diagnosed?

    E-print Network

    Gleeson, Joseph G.

    General Cancer Support Group Newly diagnosed? Involved with treatment for some time? Either way types and stages of cancer who come together to share their journey, ask questions, or simply listen to others' stories in a supportive environment. Each week is focused on a different care topic

  19. Eating Disorder Diagnoses: Empirical Approaches to Classification

    ERIC Educational Resources Information Center

    Wonderlich, Stephen A.; Joiner, Thomas E., Jr.; Keel, Pamela K.; Williamson, Donald A.; Crosby, Ross D.

    2007-01-01

    Decisions about the classification of eating disorders have significant scientific and clinical implications. The eating disorder diagnoses in the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) reflect the collective wisdom of experts in the field but are frequently not supported in…

  20. Fetal Alcohol Syndrome and Fetal Alcohol Effects in Child Development.

    ERIC Educational Resources Information Center

    Pancratz, Diane R.

    This literature review defines Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) and considers their causes, diagnoses, prevalence, and educational ramifications. Effects of alcohol during each of the trimesters of pregnancy are summarized. Specific diagnostic characteristics of FAS are listed: (1) growth deficiency, (2) a…

  1. METABOLIC SYNDROME RISK ACROSS WEIGHT STATUS IN MEXICAN AMERICAN CHILDREN

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mexican Americans experience some of the highest rates of type 2 diabetes in this country. With the rising rates of obesity in Mexican American children, these children are also at increased risk for type 2 diabetes, especially when diagnosed with metabolic syndrome. There is not, however, standard ...

  2. A new diagnostic approach to popliteal artery entrapment syndrome

    SciTech Connect

    Williams, Charles; Kennedy, Dominic; Bastian-Jordan, Matthew; Hislop, Matthew; Cramp, Brendan; Dhupelia, Sanjay

    2015-09-15

    A new method of diagnosing and defining functional popliteal artery entrapment syndrome is described. By combining ultrasonography and magnetic resonance imaging techniques with dynamic plantarflexion of the ankle against resistance, functional entrapment can be demonstrated and the location of the arterial occlusion identified. This combination of imaging modalities will also define muscular anatomy for guiding intervention such as surgery or Botox injection.

  3. Pseudodystonic Posture Secondary to Klippel–Feil Syndrome and Diastematomyelia

    PubMed Central

    Lopez-Vicchi, Martin; Da Prat, Gustavo; Gatto, Emilia Mabel

    2015-01-01

    Background Dystonic postures possess a great number of differential diagnoses. Phenomenology Shown We describe a pseudodystonic posture in a 61-year-old woman with skeletal and extra-skeletal abnormalities. Educational Value Klippel–Feil syndrome represents an unusual cause of pseudodystonic posture to be considered in the differential diagnosis of dystonia.

  4. The Profile and Incidence of Cancer in Down Syndrome

    ERIC Educational Resources Information Center

    Sullivan, S. G.; Hussain, R.; Glasson, E. J.; Bittles, A. H.

    2007-01-01

    Background: Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. Methods: A profile of cancer…

  5. Asperger Syndrome or Autistic Disorder? The Diagnostic Dilemma.

    ERIC Educational Resources Information Center

    Freeman, B. J.; Cronin, Pegeen; Candela, Pete

    2002-01-01

    This article examines the difficulties in diagnosing Asperger syndrome (AS) and differentiating AS from autism. It stresses the need for gathering a developmental history and reviews considerations in conducting different assessments related to medical condition, psychological condition, communication, language, occupational and physical therapy,…

  6. Budd-Chiari syndrome treated by Senning operation.

    PubMed Central

    Mahony, M J; Littlewood, J M; Losowsky, M S; Robinson, P J; Giles, G R

    1988-01-01

    Budd-Chiari syndrome was diagnosed in a 13 year old boy who presented with ascites. Angiographic studies showed occlusion at the ostia of the hepatic veins. This was treated surgically by the Senning operation of transcaval dorsocranial resection of the liver and hepatocaval anastomosis. The patient's ascites cleared and he remains well 10 months after surgery. Images Fig 1 Fig 2 PMID:3389903

  7. The Relationship between Dyslexia and Meares-Irlen Syndrome

    ERIC Educational Resources Information Center

    Kriss, Isla; Evans, Bruce J.W.

    2005-01-01

    Meares-Irlen Syndrome (MIS) is characterised by symptoms of visual stress and visual perceptual distortions that are alleviated by using individually prescribed coloured filters. Coloured overlays (sheets of transparent plastic that are placed upon the page) are used to screen for the condition. MIS is diagnosed on the basis of either the…

  8. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome.

    PubMed

    Giugni, Aldo Schenone; Mani, Shylaja; Kannan, Subramanian; Hatipoglu, Betul

    2013-01-01

    Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia. PMID:23555062

  9. Fibromyalgia Syndrome Symptoms and Effects: A Cross-Sectional Study.

    ERIC Educational Resources Information Center

    Prince, Alice; Bernard, Amy L.; Edsall, Patricia A.

    2000-01-01

    Surveyed fibromyalgia syndrome support group members about characteristics of the disease and how it affected their lives. Respondents had symptoms for many years before being diagnosed. Symptoms varied tremendously on a daily and yearly basis, so disease management was in a constant state of flux. Most symptoms significantly impacted quality of…

  10. A Fast Test to Diagnose Flu

    SciTech Connect

    Hazi, A U

    2007-02-12

    People with flu-like symptoms who seek treatment at a medical clinic or hospital often must wait several hours before being examined, possibly exposing many people to an infectious virus. If a patient appears to need more than the routine fluids-and-rest prescription, effective diagnosis requires tests that must be sent to a laboratory. Hours or days may pass before results are available to the doctor, who in the meantime must make an educated guess about the patient's illness. The lengthy diagnostic process places a heavy burden on medical laboratories and can result in improper use of antibiotics or a costly hospital stay. A faster testing method may soon be available. An assay developed by a team of Livermore scientists can diagnose influenza and other respiratory viruses in about two hours once a sample has been taken. Unlike other systems that operate this quickly, the new device, called FluIDx (and pronounced ''fluidics''), can differentiate five types of respiratory viruses, including influenza. FluIDx can analyze samples at the point of patient care--in hospital emergency departments and clinics--allowing medical providers to quickly determine how best to treat a patient, saving time and potentially thousands of dollars per patient. The FluIDx project, which is led by Livermore chemist Mary McBride of the Physics and Advanced Technologies Directorate, received funding from the National Institute of Allergy and Infectious Diseases and the Laboratory Directed Research and Development (LDRD) Program. To test the system and make it as useful as possible, the team worked closely with the Emergency Department staff at the University of California (UC) at Davis Medical Center in Sacramento. Flu kills more than 35,000 people every year in the US. The 2003 outbreak of severe acute respiratory syndrome and the ongoing concern about a possible bird flu pandemic show the need for a fast, reliable test that can differentiate seasonal flu from a potentially pandemic influenza. Such a test should also discriminate influenza from pathogens that cause illnesses with flu-like symptoms. When a precise diagnosis is required to treat an adult patient with serious respiratory symptoms, sample cells are usually obtained with a nasal or throat swab and analyzed with one of several laboratory methods. The gold standard test is viral culturing, a highly sensitive method that can identify the specific strain of virus. However, viral culturing is a labor-intensive process and requires 3-10 days to produce results, too long for early intervention. Enzyme and optical immunoassays offer results in 30 minutes, but these methods are less sensitive than viral culturing so they can produce false positives or negatives. They also cannot distinguish the type of virus found. Direct immunofluorescence antibody (DFA) staining is as sensitive as viral culturing. It also can detect multiple respiratory pathogens simultaneously by a process known as multiplexing. However, DFA staining requires expensive equipment, a skilled microscopist, and samples with enough target cells for testing. In addition, the results are ultimately subjective. Another method, called reverse transcriptase-polymerase chain reaction assay, offers sensitivity and specificity comparable to viral culturing and DFA staining. It also produces results in two hours and can rapidly test a large number of samples. The drawback with these tests, however, is that they must be performed in a laboratory. None of them can be used where they are needed most: in the clinic or emergency department where patients are being treated. Livermore's FluIDx diagnostic system, with its instrumentation and multiplexed assays, is designed specifically for point-of-care diagnosis. The fast, easy-to-use system is based on the Autonomous Pathogen Detection System, a homeland security technology developed by LLNL. This R&D 100 Award-winning technology constantly monitors the air to detect airborne bioterrorism agents, such as anthrax. FluIDx is an integrated system designed to perform highly multiplexed poly

  11. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with ?-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose ?-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the disease is usually good in patients that are correctly diagnosed and treated. However, there are a few exceptions: patients with Timothy syndrome, patients with Jervell Lange-Nielsen syndrome carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of cardiac arrhythmias. PMID:18606002

  12. [Hyperviscosity syndrome].

    PubMed

    Dumas, G; Merceron, S; Zafrani, L; Canet, E; Lemiale, V; Kouatchet, A; Azoulay, E

    2015-09-01

    Hyperviscosity syndrome is a life-threatening complication. Clinical manifestations include neurological impairment, visual disturbance and bleeding. Measurement of plasma or serum viscosity by a viscometer assesses the diagnosis. Funduscopic examination is a key exam because abnormalities are well-correlated with abnormal plasma viscosity. Etiologies are various but symptomatic hyperviscosity is more common in Waldenström's macroglobulinemia and multiple myeloma. Prompt treatment is needed: treatment of the underlying disease should be considered, but generally not sufficient. Symptomatic measures aim to not exacerbate blood viscosity while urgent plasmapheresis effectively reduces the paraprotein concentration and relieves symptoms. PMID:25778852

  13. Postmenopausal syndrome.

    PubMed

    Dalal, Pronob K; Agarwal, Manu

    2015-07-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  14. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  15. Aortoduodenal syndrome in a patient receiving maintenance haemodialysis.

    PubMed

    Saigusa, Susumu; Ohi, Masaki; Imaoka, Hiroki; Inoue, Yasuhiro

    2014-01-01

    An 83-year-old man receiving maintenance haemodialysis presented with abdominal pain, fever and emesis. He was initially diagnosed with acute cholecystitis. His pain and fever improved with fasting and antibiotics, but he continued to suffer from anorexia and emesis. Enhanced abdominal CT scan showed evidence of superior mesenteric artery (SMA) syndrome versus obstruction of the third part of the duodenum caused by abdominal aortic aneurysm (AAA), the so-called aortoduodenal syndrome. An upper gastrointestinal contrast study revealed duodenal dilation and blockage of the third part of the duodenum. The AAA continued to enlarge over the subsequent 3 months and the intra-abdominal visceral fat volume decreased over 1 month. The aortomesentric angle and distance remained within normal ranges. Ultimately, the patient was diagnosed with aortoduodenal syndrome. In the present case, a duodenal obstruction was caused by the combination of an enlarged AAA and reduced intra-abdominal visceral fat in a patient receiving maintenance haemodialysis. PMID:25388892

  16. Equine metabolic syndrome

    PubMed Central

    Morgan, R.; Keen, J.; McGowan, C.

    2015-01-01

    Laminitis is one of the most common and frustrating clinical presentations in equine practice. While the principles of treatment for laminitis have not changed for several decades, there have been some important paradigm shifts in our understanding of laminitis. Most importantly, it is essential to consider laminitis as a clinical sign of disease and not as a disease in its own right. Once this shift in thinking has occurred, it is logical to then question what disease caused the laminitis. More than 90 per cent of horses presented with laminitis as their primary clinical sign will have developed it as a consequence of endocrine disease; most commonly equine metabolic syndrome (EMS). Given the fact that many horses will have painful protracted and/or chronic recurrent disease, a good understanding of the predisposing factors and how to diagnose and manage them is crucial. Current evidence suggests that early diagnosis and effective management of EMS should be a key aim for practising veterinary surgeons to prevent the devastating consequences of laminitis. This review will focus on EMS, its diagnosis and management. PMID:26273009

  17. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  18. Turner Syndrome

    PubMed Central

    Kesler, SR

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

  19. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  20. Childhood cancers in families with and without Lynch syndrome.

    PubMed

    Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

    2015-12-01

    Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24 %) and non-Lynch syndrome families (179/94,302; 0.19 %; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95 % CI 107-206) per million population per year in Lynch syndrome families and 115 (95 % CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families. PMID:25963852

  1. Hemophagocytic lymphohistiocytosis diagnosed by brain biopsy

    PubMed Central

    Ju, Hee Young; Hong, Che Ry; Kim, Sung Jin; Lee, Ji Won; Kim, Hyery; Kang, Hyoung Jin; Park, Kyung Duk; Chae, Jong-Hee; Phi, Ji Hoon; Cheon, Jung-Eun; Park, Sung-Hye; Ahn, Hyo Seop

    2015-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this condition. In the present report, we describe the case of a patient diagnosed with HLH, in whom the brain pathology, but not the bone marrow pathology, showed hemophagocytosis. As the diagnosis of HLH is difficult in many cases, a high level of suspicion is required. Moreover, the pathologic diagnosis of organs other than the bone marrow, liver, and lymph nodes may be a useful alternative. PMID:26512263

  2. Prenatally diagnosed monochorionic diamniotic triplet pregnancy.

    PubMed

    Yonetani, Naoto; Ishii, Keisuke; Mabuchi, Aki; Sasahara, Jun; Hayashi, Shusaku; Mitsuda, Nobuaki

    2015-08-01

    We present an extremely rare case of monochorionic diamniotic (MD) triplet pregnancy diagnosed via ultrasonography at the end of the first trimester that resulted in delivery of three healthy newborns. Ultrasonography for a 34-year-old woman at 12 weeks of gestation showed three fetuses and one placenta with a T-sign at the initial segment of the dividing membrane. Color Doppler examination revealed umbilical cord entanglement between two fetuses in one sac in addition to another sac containing one fetus. Therefore, this was diagnosed as MD triplet pregnancy. The triplets were delivered by cesarean section at 35 weeks of gestation and were healthy without neurological morbidities at the age of 28 days. Histopathological examination also revealed an MD triplet placenta. The possibility of MD triplet pregnancy should be recognized, although it is rare. PMID:25832331

  3. Diagnosing dying: an integrative literature review

    PubMed Central

    Kennedy, Catriona; Brooks-Young, Patricia; Brunton Gray, Carol; Larkin, Phil; Connolly, Michael; Wilde-Larsson, Bodil; Larsson, Maria; Smith, Tracy; Chater, Susie

    2014-01-01

    Background To ensure patients and families receive appropriate end-of-life care pathways and guidelines aim to inform clinical decision making. Ensuring appropriate outcomes through the use of these decision aids is dependent on timely use. Diagnosing dying is a complex clinical decision, and most of the available practice checklists relate to cancer. There is a need to review evidence to establish diagnostic indicators that death is imminent on the basis of need rather than a cancer diagnosis. Aim To examine the evidence as to how patients are judged by clinicians as being in the final hours or days of life. Design Integrative literature review. Data sources Five electronic databases (2001–2011): Cochrane Central Register of Controlled Trials (CENTRAL) on The Cochrane Library, MEDLINE, EMBASE, PsycINFO and CINAHL. The search yielded a total of 576 hits, 331 titles and abstracts were screened, 42 papers were retrieved and reviewed and 23 articles were included. Results Analysis reveals an overarching theme of uncertainty in diagnosing dying and two subthemes: (1) ‘characteristics of dying’ involve dying trajectories that incorporate physical, social, spiritual and psychological decline towards death; (2) ‘treatment orientation’ where decision making related to diagnosing dying may remain focused towards biomedical interventions rather than systematic planning for end-of-life care. Conclusions The findings of this review support the explicit recognition of ‘uncertainty in diagnosing dying’ and the need to work with and within this concept. Clinical decision making needs to allow for recovery where that potential exists, but equally there is the need to avoid futile interventions. PMID:24780536

  4. Diagnosis and Management of Iridocorneal Endothelial Syndrome

    PubMed Central

    Sacchetti, Marta; Mantelli, Flavio; Marenco, Marco; Macchi, Ilaria; Ambrosio, Oriella; Rama, Paolo

    2015-01-01

    The iridocorneal endothelial (ICE) syndrome is a rare ocular disorder that includes a group of conditions characterized by structural and proliferative abnormalities of the corneal endothelium, the anterior chamber angle, and the iris. Common clinical features include corneal edema, secondary glaucoma, iris atrophy, and pupillary anomalies, ranging from distortion to polycoria. The main subtypes of this syndrome are the progressive iris atrophy, the Cogan-Reese syndrome, and the Chandler syndrome. ICE syndrome is usually diagnosed in women in the adult age. Clinical history and complete eye examination including tonometry and gonioscopy are necessary to reach a diagnosis. Imaging techniques, such as in vivo confocal microscopy and ultrasound biomicroscopy, are used to confirm the diagnosis by revealing the presence of “ICE-cells” on the corneal endothelium and the structural changes of the anterior chamber angle. An early diagnosis is helpful to better manage the most challenging complications such as secondary glaucoma and corneal edema. Treatment of ICE-related glaucoma often requires glaucoma filtering surgery with antifibrotic agents and the use of glaucoma drainage implants should be considered early in the management of these patients. Visual impairment and pain associated with corneal edema can be successfully managed with endothelial keratoplasty. PMID:26451377

  5. Diagnosis and Management of Iridocorneal Endothelial Syndrome.

    PubMed

    Sacchetti, Marta; Mantelli, Flavio; Marenco, Marco; Macchi, Ilaria; Ambrosio, Oriella; Rama, Paolo

    2015-01-01

    The iridocorneal endothelial (ICE) syndrome is a rare ocular disorder that includes a group of conditions characterized by structural and proliferative abnormalities of the corneal endothelium, the anterior chamber angle, and the iris. Common clinical features include corneal edema, secondary glaucoma, iris atrophy, and pupillary anomalies, ranging from distortion to polycoria. The main subtypes of this syndrome are the progressive iris atrophy, the Cogan-Reese syndrome, and the Chandler syndrome. ICE syndrome is usually diagnosed in women in the adult age. Clinical history and complete eye examination including tonometry and gonioscopy are necessary to reach a diagnosis. Imaging techniques, such as in vivo confocal microscopy and ultrasound biomicroscopy, are used to confirm the diagnosis by revealing the presence of "ICE-cells" on the corneal endothelium and the structural changes of the anterior chamber angle. An early diagnosis is helpful to better manage the most challenging complications such as secondary glaucoma and corneal edema. Treatment of ICE-related glaucoma often requires glaucoma filtering surgery with antifibrotic agents and the use of glaucoma drainage implants should be considered early in the management of these patients. Visual impairment and pain associated with corneal edema can be successfully managed with endothelial keratoplasty. PMID:26451377

  6. Primary Adrenal Failure due to Antiphospholipid Syndrome

    PubMed Central

    Sahin, Murat; Oguz, Ayten; Tuzun, Dilek; Boysan, Serife Nur; Mese, Bülent; Sahin, Hatice; Gul, Kamile

    2015-01-01

    Background. Antiphospholipid syndrome (APS) characterized by thrombosis and abortus may rarely cause primary adrenal failure. Case Presentations. A 34-year-old male presented with hypotension, hypoglycemia, hyperpigmentation on his skin and oral mucosa, scars on both legs, and loss of consciousness. In laboratory examinations, hyponatremia (135?mmol/L), hyperpotassemia (6?mmol/L), and thrombocytopenia (83?K/µL) were determined. Cortisol (1.91?µg/dL) and adrenocorticotropic (550?pg/mL) hormone levels were also evaluated. The patient was hospitalized with a diagnosis of acute adrenal crisis due to primary adrenal insufficiency. A Doppler ultrasound revealed venous thrombosis. The patient was diagnosed with antiphospholipid syndrome after the detection of venous thrombosis, thrombocytopenia, elevated aPTT, and anticardiolipin antibody levels. Anticoagulation treatment was started for antiphospholipid syndrome. The patient is now following up with hydrocortisone, fludrocortisone, and warfarin sodium. Conclusion. Antiphospholipid syndrome is a rare reason for adrenal failure. Antiphospholipid syndrome should be suspected if patients have morbidity secondary to venous-arterial thrombosis. PMID:26583075

  7. Developmental Trajectories in Syndromes with Intellectual Disability, with a Focus on Wolf-Hirschhorn and Its Cognitive-Behavioral Profile

    ERIC Educational Resources Information Center

    Fisch, Gene S.; Carpenter, Nancy; Howard-Peebles, Patricia N.; Holden, Jeanette J. A.; Tarleton, Jack; Simensen, Richard; Battaglia, Agatino

    2012-01-01

    Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn…

  8. Effects of Computerized Match-to-Sample Training on Emergent Fraction-Decimal Relations in Individuals with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Hammond, Jennifer L.; Hirt, Melissa; Hall, Scott S.

    2012-01-01

    Individuals diagnosed with fragile X syndrome (FXS), the most common known form of inherited intellectual disability, are reported to exhibit considerable deficits in mathematical skills that are often attributed to brain-based abnormalities associated with the syndrome. We examined whether participants with FXS would display emergent…

  9. Changes in Yearly Birth Prevalence Rates of Children with Down Syndrome in the Period 1986-2007 in the Netherlands

    ERIC Educational Resources Information Center

    de Graaf, G.; Haveman, M.; Hochstenbach, R.; Engelen, J.; Gerssen-Schoorl, K.; Poddighe, P.; Smeets, D.; van Hove, G.

    2011-01-01

    Background: The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method: On the basis of the annual child/adult ratio of Down syndrome diagnoses in five out of the eight Dutch…

  10. Effective Methylphenidate Treatment of an Adult Aspergers Syndrome and a Comorbid ADHD: A Clinical Investigation with fMRI

    ERIC Educational Resources Information Center

    Roy, Mandy; Dillo, Wolfgang; Bessling, Svenja; Emrich, Hinderk M.; Ohlmeier, Martin D.

    2009-01-01

    Objective: Aspergers Syndrome can present as comorbid with attention-deficit/hyperactivity disorder (ADHD). Very few cases of the assessment and treatment of this comorbidity in adulthood are described in the research literature. Method: A 26-year-old patient as suffering from ADHD in combination with Aspergers Syndrome is diagnosed. Treatment is…

  11. Catastrophic Antiphospholipid Syndrome: Scintigraphic Demonstration With Correlated Cross-Sectional Imaging.

    PubMed

    Le, Bryan B; Nguyen, Ba D

    2016-01-01

    We present the case of catastrophic antiphospholipid syndrome occurring in a 44-year-old woman with a recent history of coronary artery bypass surgery. Postoperatively, she was urgently readmitted for a left middle cerebral artery stroke, and during workup she was found with a left ventricular thrombus on echocardiogram. Subsequently, the patient was diagnosed with antiphospholipid syndrome. Multimodality imaging, including bone and myocardial perfusion scintigraphy, CT, and MR, during her hospitalization, depicted all the characteristic features constituting the catastrophic form of antiphospholipid syndrome, also known as Asherson syndrome. PMID:26447383

  12. [Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report].

    PubMed

    Güvenç, Osman; ?engül, Fatma Sevinç; Sayg?, Murat; Ergül, Yakup; Güzelta?, Alper

    2014-12-01

    Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of patients, and is a determinant for the prognosis of Costello syndrome. The most common cardiac anomalies are pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect and arrhytmia. In this report, we present a 14-month-old female pediatric patient with hypertrophic cardiomyopathy, clinically and genetically diagnosed with Costello syndrome. The report also contains a review of recent related literature. PMID:25620341

  13. [Atypical MRI image of Tako-Tsubo syndrome: a case report].

    PubMed

    Melay, M; Oloude, E; Hounkpatin, B; Ferrier, N; Long, J-L; Croisille, P; Marcaggi, X

    2015-02-01

    Since the 1990s, a new entity cardiomyopathy is described: the Tako-Tsubo syndrome. The Mayo Clinics' criteria have been defined by to help diagnose: LV dysfunction, electrical modifications, and complete recovery. It is a Caucasian woman aged 66 hospitalized for chest pain syndrome occurred during the funeral. In support, we note the presence of STEMI. The patient received the conventional treatment of acute coronary syndrome. Cardiac ultrasound, angiography is in favor of Tako-Tsubo syndrome. MRI shows an unusual location: a delayed enhancement in epicardial associated pericardial effusion mimicking myopericarditis. PMID:25281218

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  15. [Psychotic Disorder and Sheehan's Syndrome: Etiology or Comorbidity?: A Case Report].

    PubMed

    T?k?r, Baise; Göka, Erol; Aydemir, Makbule Çi?dem; Gürkan, ?ahin

    2015-01-01

    Sheehan's Syndrome -also called postpartum hypopituitarism- is a syndrome which characterized by lots of bleeding during or after delivery and necrosis of pituitary gland due to hypovolemic shock. It appears with not only agalactorrhea, amenorrhea, hypoythyroidism and hypoglycemia but also psychiatric disorders like psychosis. In this study, we reported a case presented with psychotic disorder and diagnosed as Sheehan's Syndrome at the same time. 44 year-old, female patient, married. She was admitted for withdrawal, irritability, insomnia, hearing voices -especially insult her- thoughts about that her husband was cheating on her and people would do evil. She was diagnosed as psychotic disorder and she was treated with olanzapine 20 mg/day. She had hypopituitarism symptoms so hormone tests and cranial MRI are done. Sheehan's syndrome was also diagnosed and prednisolone and tyroxine were added to the treatment. Her symptoms were disappeared one months later Olanzapine was stopped after 4 months and her treatment continued with prednisolone and tyroxine. Studies about etiology of psychotic symptoms refer to endocrine and autoimmune systems. In this study, we discussed a case that diagnosed as psychotic disorder and Sheehan's Syndrome -diagnosed 24 years later and etiological aspect with the follow-up period and treatment. PMID:26111291

  16. Metabolic syndrome and insulin resistance in obese adolescents

    PubMed Central

    Gobato, Amanda Oliva; Vasques, Ana Carolina J.; Zambon, Mariana Porto; Barros, Antonio de Azevedo; Hessel, Gabriel

    2014-01-01

    Objective: To verify the prevalence of metabolic syndrome and insulin resistance in obese adolescents and its relationship with different body composition indicators. Methods: A cross-sectional study comprising 79 adolescents aged ten to 18 years old. The assessed body composition indicators were: body mass index (BMI), body fat percentage, abdominal circumference, and subcutaneous fat. The metabolic syndrome was diagnosed according to the criteria proposed by Cook et al. The insulin resistance was determined by the Homeostasis Model Assessment for Insulin Resistance (HOMA-IR) index for values above 3.16. The analysis of ROC curves was used to assess the BMI and the abdominal circumference, aiming to identify the subjects with metabolic syndrome and insulin resistance. The cutoff point corresponded to the percentage above the reference value used to diagnose obesity. Results: The metabolic syndrome was diagnosed in 45.5% of the patients and insulin resistance, in 29.1%. Insulin resistance showed association with HDL-cholesterol (p=0.032) and with metabolic syndrome (p=0.006). All body composition indicators were correlated with insulin resistance (p<0.01). In relation to the cutoff point evaluation, the values of 23.5 and 36.3% above the BMI reference point allowed the identification of insulin resistance and metabolic syndrome. The best cutoff point for abdominal circumference to identify insulin resistance was 40%. Conclusions: All body composition indicators, HDL-cholesterol and metabolic syndrome showed correlation with insulin resistance. The BMI was the most effective anthropometric indicator to identify insulin resistance. PMID:24676191

  17. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50?mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  18. Nodding Syndrome

    PubMed Central

    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

    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

  19. Human adjuvant-related syndrome or autoimmune/inflammatory syndrome induced by adjuvants. Where have we come from? Where are we going? A proposal for new diagnostic criteria.

    PubMed

    Alijotas-Reig, J

    2015-09-01

    In 1964, Miyoshi reported a series of patients with diverse symptoms after receiving treatment with silicone or paraffin fillers. Miyoshi named this condition 'human adjuvant disease'. Since then, the literature has been flooded with case reports and case series of granulomatous and systemic autoimmune disorders related to vaccines, infection or other adjuvants such as silicone and other biomaterials. A new term -autoimmune/inflammatory syndrome induced by adjuvants--has recently been coined for a process that includes several clinical features previously described by Miyoshi plus other clinical and laboratory parameters related to exposure to diverse external stimuli. Disorders such as siliconosis, Gulf War syndrome, macrophagic myofasciitis syndrome, sick building syndrome and post-vaccination syndrome have been included in autoimmune/inflammatory syndrome induced by adjuvants. Disorders such as Spanish toxic oil syndrome and Ardystil syndrome could also be included. Furthermore, biomaterials other than silicone should also be considered as triggering factors for these adjuvant-related syndromes. New diagnostic criteria in this field have been proposed. Nevertheless, many of these criteria are too subjective, leading to some patients being diagnosed with chronic fatigue syndrome or other 'central sensitization syndromes'. Diagnostic criteria based only on objective clinical and laboratory data to be further discussed and validated are proposed herein. PMID:25813870

  20. The metabolic syndrome as a concept of adipose tissue disease.

    PubMed

    Oda, Eiji

    2008-07-01

    The metabolic syndrome is a constellation of interrelated metabolic risk factors that appear to directly promote the development of diabetes and cardiovascular disease. However, in 2005, the American Diabetes Association and the European Association for the Study of Diabetes jointly stated that no existing definition of the metabolic syndrome meets the criteria of a syndrome, and there have been endless debates on the pros and cons of using the concept of this syndrome. The controversy may stem from confusion between the syndrome and obesity. Obesity is an epidemic, essentially contagious disease caused by an environment of excess nutritional energy and reinforced by deeply rooted social norms. The epidemic of obesity should be prevented or controlled by social and political means, similar to the approaches now being taken to combat global warming. The diagnosis of metabolic syndrome is useless for this public purpose. The purpose of establishing criteria for diagnosing metabolic syndrome is to find individuals who are at increased risk of diabetes and cardiovascular disease and who require specific therapy including diet and exercise. The syndrome may be an adipose tissue disease different from obesity; in that case, it would be characterized by inflammation clinically detected through systemic inflammatory markers such as high-sensitivity C-reactive protein and insulin resistance reflecting histological changes in adipose tissue. However, many problems in defining the optimal diagnostic criteria remain unresolved. PMID:18957797

  1. Tourette's syndrome in famous musicians.

    PubMed

    Camargo, Carlos Henrique F; Bronzini, Augusto

    2015-12-01

    Tourette's syndrome (TS) is defined as a disorder characterized by multiple motor tics and at least one vocal tic that have lasted for not less than one year. It is a relatively complex neurobehavioral disorder, in which patients may present with coexistent attention deficit hyperactivity disorder, obsessive-compulsive disorder or other behavioral comorbidities. The musical genius Wolfgang Amadeus Mozart (1756-1791) and the rock star Kurt Cobain (1967-1994) may both have suffered from TS, and some contemporary musicians have had their clinical condition confirmed as TS. Our hypothetical diagnosis of TS in Mozart and Cobain is based on the presence of tics and psychiatric comorbidities. In contemporary musicians, such as Michael Wolff, Nick Van Bloss and James Durbin, TS has often only been diagnosed after a considerable delay. This delay in diagnosis and the controversies surrounding the clinical case of Mozart show how difficult a confirmatory diagnosis of this complex disease is. PMID:26445123

  2. [Pleuritis in yellow nail syndrome].

    PubMed

    Kossakowski, C A; Schmiegelow, P; Müller, K-M

    2012-03-01

    A 76-year-old man presented clinically with coughing and shortness of breath and was diagnosed radiologically to have massive pleural effusion as a combined feature of yellow nail syndrome. A lung biopsy was taken and revealed histologically: chronic non-specific inflammation in the pleuropulmonary border, intrapleural edema with eightfold pleural thickening in comparison to normal, angiogenesis in both the nutritive and functional intrapleural blood vessels, no abnormalities of lymphatic vessels with normal topographical distribution as detected by immunohistochemistry for antibody D2-40, granulomatous chronic foreign body reaction as a consequence of pleural effusion therapy by talcum pleurodesis.The histopathological findings of chronic non-specific pleuritis with angiogenesis and increased permeability of blood vessels led to massive intrapleural edema with pleural effusion. Abnormalities of lymphatic vessels could not be confirmed. Considering the features of this disease, they are probably secondary to chronic r infectious or immunological inflammation or paraneoplastic complications with angiogenesis (in about 19%). PMID:22048329

  3. Genetics Home Reference: Horner syndrome

    MedlinePLUS

    ... 250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. What genes are related to Horner syndrome? Although congenital Horner syndrome can ...

  4. Can mastalgia be another somatic symptom in fibromyalgia syndrome?

    PubMed Central

    Sen, Meral; Kilic, Murat Ozgur; Cemeroglu, Ozlem; Icen, Duygu

    2015-01-01

    OBJECTIVE: The purposes of this study were to determine the coexistence of mastalgia and fibromyalgia, to investigate the effects of this combination on pain patterns, and to discuss the status of breast pain in the diagnostic algorithm of fibromyalgia syndrome. METHODS: Sixty-one female patients reporting breast pain during the last three months and 53 female patients diagnosed with fibromyalgia syndrome were enrolled in this study. The Breast Pain Questionnaire was administered to all participants in the mastalgia group and to those in the fibromyalgia syndrome group who had experienced mastalgia during the past three months. The patients in the fibromyalgia syndrome group were evaluated using the 2010 preliminary American College of Rheumatology classification criteria. All of the patients in the mastalgia group were evaluated for the diagnosis of fibromyalgia syndrome by a single physiatrist. The coexistence and pain patterns of mastalgia and fibromyalgia were assessed statistically. RESULTS: Approximately half of the patients with fibromyalgia syndrome (47.2%) reported having mastalgia at the time of admission and 37.7% of the patients with mastalgia met the diagnostic criteria for fibromyalgia syndrome. The patients with mastalgia in the fibromyalgia syndrome group had significantly higher total breast pain scores compared with the women in the mastalgia group. In addition, the patients with fibromyalgia syndrome in the mastalgia group had significantly higher Widespread Pain Index and Symptom Severity Scale scores than the patients with fibromyalgia syndrome. CONCLUSIONS: We suggest that mastalgia can be an aspect of the central sensitivity syndrome and can be added to the somatic symptoms of fibromyalgia. PMID:26602519

  5. Ethnicity Considerations in Diagnosing Glucose Disorders.

    PubMed

    Hare, Matthew J L; Shaw, Jonathan E

    2016-01-01

    Morbidity and mortality from diabetes and its complications are increasing in populations globally. Different ethnic groups have varying degrees of risk. The concept of ethnicity encompasses numerous factors relevant to health including genetics, socioeconomics and health behaviours. Ethnicity-related discordance in the glycaemic markers used to diagnose diabetes and to identify those at risk of diabetes has been reported. Furthermore, many ethnicity- and country-specific diabetes risk prediction models have been developed. This review provides a thorough discussion of the impact of ethnicity on how diabetes is detected and the evidence for and against ethnicity-specific approaches to diagnosis. PMID:25669846

  6. Eosinophilic Pancreatitis Diagnosed With Endoscopic Ultrasound

    PubMed Central

    Omar, Hina; Cabrera, Julio; Chi, Kenneth

    2015-01-01

    Eosinophilic pancreatitis (EP) is a rare clinical entity, and few cases have been reported. It usually presents on imaging as a pancreatic mass leading to common bile duct obstruction and jaundice. Since it can mimic a malignancy, eosinophilic pancreatitis is often diagnosed after “false positive” pancreatic resections. To our knowledge, we report the only known case of EP in which the diagnosis was made by fine needle aspiration and core biopsy of the pancreas during EUS, sparing the patient a surgical resection. After a steroid course, there was improvement of clinical symptoms. PMID:26203451

  7. Foods, Drugs and Environmental Factors: Novel Kounis Syndrome Offenders.

    PubMed

    Kounis, Nicholas G; Giannopoulos, Sotiris; Soufras, George D; Kounis, George N; Goudevenos, John

    2015-01-01

    Kounis syndrome is hypersensitivity coronary disorder induced by various types of environmental exposures, drugs, conditions and stents. Allergic, hypersensitivity, anaphylactic and anaphylactoid reactions are associated with this syndrome. The disorder manifests as coronary spasms, acute myocardial infarction and stent thrombosis and affects the cerebral and mesenteric as well as coronary arteries. Importantly, its manifestations are broad and its etiology is continuously increasing. Recently, a variety of unusual etiologies have been reported including Anisakis simplex, scombroid syndrome, the use of Gelofusin or ultrasound contrast agents, kiwifruit, fly bites, and bee stings. Furthermore, losartan and the paradox of corticosteroid allergy have been implicated as possible causes. Although not rare, Kounis syndrome is infrequently diagnosed. Therefore, awareness of its etiology, manifestations and pathophysiology is important for providing the proper diagnosis and treatment and determining prognosis. PMID:26134186

  8. [The Pickwick syndrome. From literary speculations to sleep research].

    PubMed

    Tjøorstad, K

    1995-12-10

    The "wonderfully fat boy" Joe described in The Pickwick Papers, by Charles Dickens, is remarkable for his glorious appetite and many attacks of sleep during the day. His medical condition was introduced as the Pickwick syndrome by Burwell et al. in 1956. For some 20 years this was an important stimulus for sleep research. Some literary and historical aspects of The Pickwick Papers are presented. The many diagnoses given to poor Joe are discussed. This diagnostic survey may still be of interest, even if the syndrome has virtually disappeared from medical literature. How does the Pickwick syndrome, as doctors today see it, fit Dickens' original description? Did Joe really suffer from the Pickwick syndrome? PMID:8539749

  9. Childhood acne in a boy with XYY syndrome

    PubMed Central

    Kasparis, Christos; Loffeld, Annette

    2014-01-01

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome. PMID:24395875

  10. Childhood acne in a boy with XYY syndrome.

    PubMed

    Kasparis, Christos; Loffeld, Annette

    2014-01-01

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome. PMID:24395875

  11. Early diagnosis of Gorlin-Goltz syndrome: case report

    PubMed Central

    2011-01-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:21266031

  12. Diagnosis and treatment of acute extremity compartment syndrome.

    PubMed

    von Keudell, Arvind G; Weaver, Michael J; Appelton, Paul T; Bae, Donald S; Dyer, George S M; Heng, Marilyn; Jupiter, Jesse B; Vrahas, Mark S

    2015-09-26

    Acute compartment syndrome of the extremities is well known, but diagnosis can be challenging. Ineffective treatment can have devastating consequences, such as permanent dysaesthesia, ischaemic contractures, muscle dysfunction, loss of limb, and even loss of life. Despite many studies, there is no consensus about the way in which acute extremity compartment syndromes should be diagnosed. Many surgeons suggest continuous monitoring of intracompartmental pressure for all patients who have high-risk extremity injuries, whereas others suggest aggressive surgical intervention if acute compartment syndrome is even suspected. Although surgical fasciotomy might reduce intracompartmental pressure, this procedure also carries the risk of long-term complications. In this paper in The Lancet Series about emergency surgery we summarise the available data on acute extremity compartment syndrome of the upper and lower extremities in adults and children, discuss the underlying pathophysiology, and propose a clinical guideline based on the available data. PMID:26460664

  13. Syncope as initial symptom for nephrotic syndrome: a case report

    PubMed Central

    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  14. Optune Device Approved for Newly Diagnosed Brain Cancer

    MedlinePLUS

    ... 155009.html Optune Device Approved for Newly Diagnosed Brain Cancer Emits electric pulses designed to thwart tumor ... to include newly diagnosed glioblastoma multiforme, an aggressive brain cancer. Optune involves placing electrodes on the surface ...

  15. How Do Health Care Providers Diagnose Menkes Disease?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Menkes disease? Skip sharing on social ... 3 months old. To diagnose Menkes disease, a health care provider will order blood tests to measure the ...

  16. How Do Health Care Providers Diagnose Primary Ovarian Insufficiency (POI)?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose POI? Skip sharing on social media ... having periods for 4 months or longer, her health care provider may take these steps to diagnose the ...

  17. How Do Health Care Providers Diagnose Traumatic Brain Injury (TBI)?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose traumatic brain injury (TBI)? Skip sharing ... links Share this: Page Content To diagnose TBI, health care providers may use one or more tests that ...

  18. How Do Health Care Providers Diagnose Menstrual Irregularities?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose menstrual irregularities? Skip sharing on social media links Share this: Page Content A health care provider diagnoses menstrual irregularities using a combination of ...

  19. How Do Health Care Providers Diagnose Osteogenesis Imperfecta?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose osteogenesis imperfecta (OI)? Skip sharing on ... Page Content If OI is moderate or severe, health care providers usually diagnose it during prenatal ultrasound at ...

  20. Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).

    PubMed

    Haimi, Motti; Gershoni-Baruch, Ruth

    2005-10-15

    We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome. PMID:16152639

  1. Iliac vein compression syndrome: Clinical, imaging and pathologic findings.

    PubMed

    Brinegar, Katelyn N; Sheth, Rahul A; Khademhosseini, Ali; Bautista, Jemianne; Oklu, Rahmi

    2015-11-28

    May-Thurner syndrome (MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures. PMID:26644823

  2. Iliac vein compression syndrome: Clinical, imaging and pathologic findings

    PubMed Central

    Brinegar, Katelyn N; Sheth, Rahul A; Khademhosseini, Ali; Bautista, Jemianne; Oklu, Rahmi

    2015-01-01

    May-Thurner syndrome (MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures. PMID:26644823

  3. [Periodic fever syndrome/autoinflammatory syndrome].

    PubMed

    Kötter, I; Schedel, J; Kümmerle-Deschner, J B

    2009-03-01

    Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

  4. The Draw-A-Person: group differences among individuals with Obsessive-Compulsive Disorder, Attention Deficit Hyperactivity Disorder, Tourette Syndrome, and normal controls 

    E-print Network

    Burch, Wendy A.

    2005-11-01

    The purpose of the present study was to investigate the differences among the human figure drawings (HFDs) of individuals diagnosed with Obsessive-Compulsive Disorder (OCD), Tourette Syndrome (TS), Attention Deficit Hyperactivity Disorder (ADHD...

  5. Illness perspectives of Thais diagnosed with schizophrenia.

    PubMed

    Sanseeha, Ladda; Chontawan, Ratanawadee; Sethabouppha, Hunsa; Disayavanish, Chamlong; Turale, Sue

    2009-09-01

    This study explored the perceptions of 18 people diagnosed with schizophrenia from 1-10 years to uncover how they perceived themselves and their illness. It also involved 12 family members who added their perceptions. The data were collected using in-depth interviews, reflective journaling, and observations. The data were analyzed through the lens of Heidegger's hermeneutic phenomenology. Four themes emerged: perceptions of mental illness, perceptions of the causes of illness, perceptions of discrimination, and attempting to live with schizophrenia. The findings included strong underlying cultural and spiritual beliefs, and attitudes unique to the Thai participants, including the causation of schizophrenia by supernatural powers, black magic, and bad karma stemming from past deeds. Understanding the perceptions of the participants might help health-care providers to be more sensitive to those living with schizophrenia in Thailand and elsewhere. In particular, the findings could be useful in informing psychiatric careproviders about developing better caring systems for clients diagnosed with schizophrenia. This should help the sufferers of schizophrenia to live their lives to their own satisfaction and as normally as possible. PMID:19689640

  6. Vehicle Fault Diagnose Based on Smart Sensor

    NASA Astrophysics Data System (ADS)

    Zhining, Li; Peng, Wang; Jianmin, Mei; Jianwei, Li; Fei, Teng

    In the vehicle's traditional fault diagnose system, we usually use a computer system with a A/D card and with many sensors connected to it. The disadvantage of this system is that these sensor can hardly be shared with control system and other systems, there are too many connect lines and the electro magnetic compatibility(EMC) will be affected. In this paper, smart speed sensor, smart acoustic press sensor, smart oil press sensor, smart acceleration sensor and smart order tracking sensor were designed to solve this problem. With the CAN BUS these smart sensors, fault diagnose computer and other computer could be connected together to establish a network system which can monitor and control the vehicle's diesel and other system without any duplicate sensor. The hard and soft ware of the smart sensor system was introduced, the oil press, vibration and acoustic signal are resampled by constant angle increment to eliminate the influence of the rotate speed. After the resample, the signal in every working cycle could be averaged in angle domain and do other analysis like order spectrum.

  7. Orbital aspergillus infection diagnosed by FNAC.

    PubMed

    Kuruba, Sree Lakshmi; Prabhakaran, Venkatesh C; Nagarajappa, A H; Biligi, Dayanand S

    2011-07-01

    Fungal infections of the orbit represent a small minority of orbital infections. However, due to the virulent nature of some of the fungal species, they can have a devastating effect on ocular functions. Most of these fungi are saprophytes, which cause opportunistic infections. Aspergillus is one such fungus that can cause infection at various sites in an immunosuppressed individual. Sinonasal aspergillus infection with orbital extension and orbital aspergillus infection progress relentlessly. They can have a precipitous clinical course resulting in total loss of vision. Fine needle aspiration cytology (FNAC) is rarely used as a preoperative diagnostic tool in the investigation of orbital mass lesions. Further, fungal infections of orbit are seldom diagnosed on FNAC. Two cases of fungal infection of the orbital and periorbital tissue diagnosed on FNAC are presented. A 50-year-old diabetic male presented with diminishing vision, pain, and forward protrusion of the left eye. On examination, he had upper eye lid fullness. A 55-year-old diabetic male presented with a swelling on the right upper eye lid. The patients were evaluated radiologically and then subjected to FNAC. The smears showed giant cells, histiocytes, epithelioid granulomas, and fungal hyphae. A diagnosis of fungal infection was arrived at which was subsequently confirmed by culture and biopsy. Orbital aspergillus infection can have a precipitous course. Computerized tomography and magnetic resonance imaging of the orbit provide crucial information. However, FNAC can help in making an early definitive diagnosis of fungal infection and thus obviate the need for a biopsy. PMID:21695805

  8. Maps of Trends in Diagnosed Diabetes and Obesity

    E-print Network

    Cooper, Robin L.

    Maps of Trends in Diagnosed Diabetes and Obesity November 2011 CDC's Division of Diabetes of obesity and diagnosed diabetes among US adults aged 18 years or older from 1994 through 2010. During this period, the prevalence of obesity and the prevalence of diagnosed diabetes rose in all states. In 1994

  9. A case report of Gordon's syndrome in a 20-year-old male with free medical family history.

    PubMed

    Kostakis, Ioannis D; Tsoukalas, Nikolaos G; Aravantinos, Dionysios C; Gkizis, Ilias G; Cholidou, Kyriaki G; Papadopoulos, Dimitris P

    2013-01-01

    Gordon's syndrome is a rare autosomal dominant disease that manifests in childhood. It is characterized by hypertension, hyperkalemic hyperchloremic metabolic acidosis, low renin and usually normal aldosterone levels, and it is sensitive to thiazide diuretics. A 20-year-old male with a history of diagnosed Gordon's syndrome was referred to a nephrology clinic for evaluation. The patient, who was under treatment with hydrochlorothiazide, had been diagnosed with Gordon's syndrome at the age of 11, when he presented hypertension and episodes of hyperkalemic hyperchloremic metabolic acidosis. However, none of his relatives had been diagnosed with this syndrome. Therefore, we assume that our patient might be a case of de novo gene mutation. PMID:23340132

  10. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  11. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Oscar, Arias Carrión; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology. PMID:26166239

  12. Sjogren-Larsson Syndrome

    MedlinePLUS

    What causes SLS? SLS is caused by mutations in a gene called fatty aldehyde dehydrogenase, or FADH. The protein that is ... in the body, leading to SLS. How is SLS diagnosed? SLS can be diagnosed by a biochemical ...

  13. Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome.

    PubMed

    Wharton, R H; Bresnan, M J

    1989-04-01

    The authors retrospectively evaluated the diagnoses at four months of age for 48 individuals with known Prader-Willi syndrome. 15 had been diagnosed as having cerebral palsy, and at four months only two of the 48 had been correctly diagnosed as Prader-Willi syndrome. 11 (23 per cent) had had birth asphyxia, compared with an expected rate of 1 per cent. Other perinatal features which occurred more frequently than expected included breech presentation, decreased fetal movements and prolonged gestation. Failure to make an early diagnosis of Prader-Willi syndrome often results in later disability being blamed on the birth process, when instead the child's neonatal problems are secondary to a prenatal condition. PMID:2737375

  14. Living with Marfan Syndrome

    MedlinePLUS

    ... avoid strenuous activities, such as weightlifting, skiing, and football. You also may need to avoid sports that ... of your child's Marfan syndrome. Pregnancy Many pregnant women who have Marfan syndrome have safe and normal ...

  15. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges Gilles de la Tourette, who first ... hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) . Learning disabilities and sleeping problems are also common in ...

  16. Carpal Tunnel Syndrome

    MedlinePLUS

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  17. 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 ...

  18. Anisocoria and Horner's Syndrome

    MedlinePLUS

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

  19. Schwartz–Jampel syndrome

    PubMed Central

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor; Gayathri, N.; Shivaram, Sumanth

    2015-01-01

    Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters. PMID:26167227

  20. Learning about Klinefelter Syndrome

    MedlinePLUS

    ... may have enough normally functioning cells in the testes to allow them to father children. Klinefelter syndrome ... syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial ...

  1. Restless legs syndrome

    MedlinePLUS

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

  2. 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 ...

  3. What Causes Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Cushing’s syndrome? Skip sharing on social media links Share this: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing’s Syndrome Normally, the pituitary gland in the brain controls ...

  4. 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 ...

  5. Obesity Hypoventilation Syndrome

    MedlinePLUS

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

  6. Neonatal abstinence syndrome

    MedlinePLUS

    ... baby besides NAS. These may include: Birth defects Low birth weight Premature birth Small head circumference Sudden infant death syndrome (SIDS) Problems with development and behavior Neonatal abstinence syndrome can last from ...

  7. Guillain-Barré Syndrome

    MedlinePLUS

    ... knows what causes GBS, scientists do have some theories about the syndrome and why it surfaces in ... ON THIS TOPIC Why Should I Care About Germs? Strep Throat Chronic Fatigue Syndrome What's It Like ...

  8. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

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

  9. Lennox-Gastaut Syndrome

    MedlinePLUS

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

  10. Restless Legs Syndrome

    MedlinePLUS

    ... What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong urge ... urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, ...

  11. Restless Legs Syndrome

    MedlinePLUS

    ... What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations ... may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, ...

  12. Management of hepatorenal syndrome

    PubMed Central

    Dundar, Halit Ziya; Y?lmazlar, Tuncay

    2015-01-01

    Hepatorenal syndrome (HRS) is defined as development of renal dysfunction in patients with chronic liver diseases due to decreased effective arterial blood volume. It is the most severe complication of cirrhosis because of its very poor prognosis. In spite of several hypotheses and research, the pathogenesis of HRS is still poorly understood. The onset of HRS is a progressive process rather than a suddenly arising phenomenon. Since there are no specific tests for HRS diagnosis, it is diagnosed by the exclusion of other causes of acute kidney injury in cirrhotic patients. There are two types of HRS with different characteristics and prognostics. Type 1 HRS is characterized by a sudden onset acute renal failure and a rapid deterioration of other organ functions. It may develop spontaneously or be due to some precipitating factors. Type 2 HRS is characterized by slow and progressive worsening of renal functions due to cirrhosis and portal hypertension and it is accompanied by refractory ascites. The only definitive treatment for both Type 1 and Type 2 HRS is liver transplantation. The most suitable bridge treatment or treatment for patients who are not eligible for transplantation is a combination of terlipressin and albumin. For the same purpose, it is possible to try hemodialysis or renal replacement therapies in the form of continuous veno-venous hemofiltration. Artificial hepatic support systems are important for patients who do not respond to medical treatment. Transjugular intrahepatic portosystemic shunt may be considered as a treatment modality for unresponsive patients to medical treatment. The main goal of clinical surveillance in a cirrhotic patient is prevention of HRS before it develops. The aim of this article is to provide an updated review about the physiopathology of HRS and its treatment. PMID:25949942

  13. Angelman syndrome in adulthood.

    PubMed

    Larson, Anna M; Shinnick, Julianna E; Shaaya, Elias A; Thiele, Elizabeth A; Thibert, Ronald L

    2015-02-01

    Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16-50y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty-eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self-injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late-adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety. PMID:25428759

  14. Sagging Eye Syndrome

    PubMed Central

    Chaudhuri, Zia; Demer, Joseph L.

    2014-01-01

    Importance Recognition of sagging eye syndrome (SES) as the cause of chronic or acute acquired diplopia may avert neurologic evaluation and imaging in most cases. Objectives To determine whether SES results from inferior shift of lateral rectus (LR) extraocular muscle (EOM) pulleys and to investigate anatomic correlates of strabismus in SES. Design and Setting We used magnetic resonance imaging to evaluate rectus EOMs, pulleys, and the LR– superior rectus (SR) band ligament at an eye institute. Participants Patients with acquired diplopia suspected of having SES. We studied 56 orbits of 11 men and 17 women (mean [SD] age of 69.4 [11.9] years) clinically diagnosed with SES. Data were obtained from 25 orbits of 14 control participants age-matched to SES and from 52 orbits of 28 younger controls (23[4.6] years). Main Outcome Measures Rectus pulley locations compared with age-matched norms and lengths of the LR-SR band ligament and rectus EOMs. Data were correlated with facial features, binocular alignment, and fundus torsion. Results Patients with SES commonly exhibited blepharoptosis and superior sulcus defect. Significant infero-lateral LR pulley displacement was confirmed in SES, but the spectrum of abnormalities was extended to peripheral displacement of all other rectus pulleys and lateral displacement of the inferior rectus pulley, with elongation of rectus EOMs (P < .001). Symmetrical LR sag was associated with divergence paralysis esotropia and asymmetrical LR sag greater than 1mm with cyclovertical strabismus. The LR-SR band was ruptured in 91% of patients with SES. Conclusions and Relevance Widespread rectus pulley displacement and EOM elongation, associated with LR-SR band rupture, causes acquired vertical and horizontal strabismus. Small-angle esotropia or hypertropia may result from common involutional changes in EOMs and orbital connective tissues that may be suspected from features evident on external examination. PMID:23471194

  15. Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.

    PubMed

    Helm, Benjamin M

    2015-04-01

    The main goal of the constructivist meaning-making framework is to encourage grief adaptation through the search for meaning in loss. Strategies to help patients construct meaning from their experiences may lead to positive adaptation. This strategy has been used in contemporary grief counseling, but it may also be beneficial in the genetic counseling scenario. The diagnosis of a rare genetic disorder often has considerable psychosocial impact as patients and families describe feelings of isolation and hopelessness. Negative experiences with healthcare providers often reinforce these feelings. Genetic counselors continue to provide education and psychosocial support to patients and families with rare genetic disorders, and meaning-making strategies may provide a framework for which to help patients and families adapt to these challenging diagnoses. In this paper I explore the background of meaning-making counseling strategy and describe an experience in which it was used for counseling a family with a child with Mowat-Wilson syndrome. I show how a meaning-making framework can help families explore and construct meaning from their experiences and encourage positive adaptation. I also address the possible limitations of this strategy and the need to share additional experiences with this counseling framework. Meaning-making can be another tool for genetic counselors to help guide families in their grief and adaptation to rare disease diagnoses. I also describe qualities and aspects of counseling through the lens of meaning-making and stress the importance of addressing psychosocial dimensions of rare disease diagnoses. PMID:25566742

  16. A Network-Based Approach to Investigate the Pattern of Syndrome in Depression

    PubMed Central

    Liu, Xi; Deng, Qingqiong; Dai, Wen; Gao, Yibo; Chen, Lin; Zhang, Yunling; Wang, Jialing; Yu, Miao; Guo, Rongjuan

    2015-01-01

    In Traditional Chinese Medicine theory, syndrome is essential to diagnose diseases and treat patients, and symptom is the foundation of syndrome differentiation. Thus the combination and interaction between symptoms represent the pattern of syndrome at phenotypic level, which can be modeled and analyzed using complex network. At first, we collected inquiry information of 364 depression patients from 2007 to 2009. Next, we learned classification models for 7 syndromes in depression using naïve Bayes, Bayes network, support vector machine (SVM), and C4.5. Among them, SVM achieves the highest accuracies larger than 0.9 except for Yin deficiency. Besides, Bayes network outperforms naïve Bayes for all 7 syndromes. Then key symptoms for each syndrome were selected using Fisher's score. Based on these key symptoms, symptom networks for 7 syndromes as well as a global network for depression were constructed through weighted mutual information. Finally, we employed permutation test to discover dynamic symptom interactions, in order to investigate the difference between syndromes from the perspective of symptom network. As a result, significant dynamic interactions were quite different for 7 syndromes. Therefore, symptom networks could facilitate our understanding of the pattern of syndrome and further the improvement of syndrome differentiation in depression. PMID:25821499

  17. Management of abdominal compartment syndrome after transurethral resection of the prostate.

    PubMed

    Gaut, Megan M; Ortiz, Jaime

    2015-01-01

    Acute abdominal compartment syndrome is most commonly associated with blunt abdominal trauma, although it has been seen after ruptured abdominal aortic aneurysm, liver transplantation, pancreatitis, and massive volume resuscitation. Acute abdominal compartment syndrome develops once the intra-abdominal pressure increases to 20-25mmHg and is characterized by an increase in airway pressures, inadequate ventilation and oxygenation, altered renal function, and hemodynamic instability. This case report details the development of acute abdominal compartment syndrome during transurethral resection of the prostate with extra- and intraperitoneal bladder rupture under general anesthesia. The first signs of acute abdominal compartment syndrome in this patient were high peak airway pressures and difficulty delivering tidal volumes. Management of the compartment syndrome included re-intubation, emergent exploratory laparotomy, and drainage of irrigation fluid. Difficulty with ventilation should alert the anesthesiologist to consider abdominal compartment syndrome high in the list of differential diagnoses during any endoscopic bladder or bowel case. PMID:26614151

  18. Neonatal Sweet’s Syndrome Associated with Rectovestibular Fistula with Normal Anus

    PubMed Central

    Shinozuka, Jun; Tomiyama, Hideki; Tanaka, Shin-ichiro; Tahara, Junko; Awaguni, Hitoshi; Makino, Shigeru; Maruyama, Rikken; Imashuku, Shinsaku

    2015-01-01

    Sweet’s syndrome, characterized by fever and a painful erythematous rash with a dermal neutrophilic infiltrate, develops primarily due to paraneoplastic phenomena in adults. Sweet’s syndrome is very rare in neonates. We report a Japanese female neonate (age <2 months), who developed Sweet’s syndrome with episodes of perineal infection in association with congenital rectovestibular fistula with normal anus. Sweet’s syndrome was diagnosed basing on clinical features and histopathology of biopsied skin tissues. Rectovestibular fistula was confirmed after the signs of inflammation subsided and the rash disappeared. In the literature, we found another case of neonatal Sweet’s syndrome associated with rectovestibular fistula in a Japanese female neonate. The perineal region should be screened for anomalies following diagnosis of Sweet’s syndrome in neonates. PMID:26266031

  19. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

    PubMed

    Hummel, Marybeth; Cunningham, David; Mullett, Charles J; Kelley, Richard I; Herman, Gail E

    2003-10-15

    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant malformation syndrome characterized by unilaterally distributed ichthyosiform nevi, often sharply delimited at the midline, and ipsilateral limb defects. At least two-thirds of cases demonstrate involvement of the right side. Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with CHILD syndrome as originally defined. Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided CHILD syndrome. This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene. PMID:12966526

  20. XYY syndrome: a 13-year-old boy with tall stature.

    PubMed

    Jo, Won Ha; Jung, Mo Kyung; Kim, Ki Eun; Chae, Hyun Wook; Kim, Duk Hee; Kwon, Ah Reum; Kim, Ho-Seong

    2015-09-01

    When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out. PMID:26512355