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Sample records for smith-lemli-opitz syndrome diagnosed

  1. 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

  2. [Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].

    PubMed

    Koczok, Katalin; V Oláh, Anna; P Szabó, Gabriella; Oláh, Éva; Török, Olga; Balogh, István

    2015-10-18

    Smith-Lemli-Opitz syndrome is an autosomal recessive mental retardation and multiple malformation syndrome caused by deficiency of the 7-dehydrocholesterol reductase, the enzyme catalyzing the last step in cholesterol biosynthesis. The authors summarize the pathophysiology, epidemiology, clinical picture, diagnostics and therapy of the disease based on a review of the international literature. Since 2004, fourteen patients have been diagnosed with Smith-Lemli-Opitz syndrome in Hungary, which suggests an underdiagnosis of the disease based upon estimated incidence data. Due to deficiency of the 7-dehydrocholesterol reductase, serum cholesterol concentration is low and 7-dehydrocholesterol concentration is elevated in blood and tissues; the latter being highly specific for the syndrome. Detection of disease-causing mutations makes the prenatal diagnosis possible. The clinical spectrum is wide, the most common symptom is syndactyly of the second and third toes. Standard therapy is cholesterol supplementation. Recent publications suggest that oxidative compounds of 7-dehydrocholesterol may play a role in the pathophysiology of the disease as well. PMID:26551309

  3. Growth Charts for Individuals with Smith-Lemli-Opitz Syndrome

    PubMed Central

    Lee, Ryan W.Y.; McGready, John; Conley, Sandra K.; Yanjanin, Nicole M.; Nowaczyk, Małgorzata J.M.; Porter, Forbes D.

    2012-01-01

    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 shows a growth restriction of about 2 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

  4. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr.

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  5. 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.

  6. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

    PubMed

    Tierney, E; Nwokoro, N A; Porter, F D; Freund, L S; Ghuman, J K; Kelley, R I

    2001-01-15

    The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent questionnaires and telephone interviews. Of the 56 subjects, 50 (89%) had a history of repeated self-injury: 30 (54%) bit themselves; 27 (48%) head-banged; and 30 (54%) threw themselves backward in a highly characteristic upper body movement ("opisthokinesis"). Forty-seven of these subjects were also evaluated by direct observation and by direct interview of the parent or caregiver. Of 11 subjects 10 years or older, three (27%) had a stereotypic stretching motion of the upper body accompanied by hand flicking. Additional measures showed sensory hyperreactivity, temperament dysregulation, sleep disturbance, and social and communication deficits. Nine of 17 subjects (53%) met the diagnostic criteria for autistic disorder by the Autism Diagnostic Interview-Revised (ADI-R) algorithm questions [Lord et al., 1993, 1994]. Thus, SLOS is a metabolic disorder that can be associated with autism and other behavioral characteristics that define a distinctive and diagnostically important behavioral disorder. PMID:11223857

  7. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

    PubMed

    Waterham, H R; Wijburg, F A; Hennekam, R C; Vreken, P; Poll-The, B T; Dorland, L; Duran, M; Jira, P E; Smeitink, J A; Wevers, R A; Wanders, R J

    1998-08-01

    Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-that is, the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. We identified a partial transcript coding for human 7-dehydrocholesterol reductase by searching the database of expressed sequence tags with the amino acid sequence for the Arabidopsis thaliana sterol Delta7-reductase and isolated the remaining 5' sequence by the "rapid amplification of cDNA ends" method, or 5'-RACE. The cDNA has an open reading frame of 1,425 bp coding for a polypeptide of 475 amino acids with a calculated molecular weight of 54.5 kD. Heterologous expression of the cDNA in the yeast Saccharomyces cerevisiae confirmed that it codes for 7-dehydrocholesterol reductase. Chromosomal mapping experiments localized the gene to chromosome 11q13. Sequence analysis of fibroblast 7-dehydrocholesterol reductase cDNA from three patients with Smith-Lemli-Opitz syndrome revealed distinct mutations, including a 134-bp insertion and three different point mutations, each of which was heterozygous in cDNA from the respective parents. Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase. PMID:9683613

  8. Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

    PubMed Central

    Balogh, I.; Koczok, K.; Szabó, G.P.; Török, O.; Hadzsiev, K.; Csábi, G.; Balogh, L.; Dzsudzsák, E.; Ajzner, É.; Szabó, L.; Csákváry, V.; Oláh, A.V.

    2012-01-01

    Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964–1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified. PMID:23293579

  9. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

    PubMed Central

    Ryan, A K; Bartlett, K; Clayton, P; Eaton, S; Mills, L; Donnai, D; Winter, R M; Burn, J

    1998-01-01

    We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity. Images PMID:9678700

  10. Smith-Lemli-Opitz syndrome: a review, case report and dental implications.

    PubMed

    Muzzin, Kathleen B; Harper, Lisa F

    2003-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive developmental disorder characterized by multiple congenital malformations, dysmorphic craniofacial features, and mental impairment. SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol delta7 reductase which converts 7-dehyrocholesterol to cholesterol. This error results in elevated serum levels of 7-dehydrocholesterol and decreased levels of serum cholesterol. This article describes the clinical features and medical treatment of SLOS. A case report is included, with recommended guidelines for providing safe and comprehensive dental care for individuals with SLOS. PMID:12887150

  11. Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome.

    PubMed

    Anstey, A V; Ryan, A; Rhodes, L E; Charman, C R; Arlett, C F; Tyrrell, R M; Taylor, C R; Pearse, A D

    1999-09-01

    Photosensitivity has recently been reported as a feature of the Smith-Lemli-Opitz syndrome (SLO). The aim of this study was to establish the photobiological features of this disorder and to examine the hypothesis that the photosensitivity is caused by the high levels of 7-dehydrocholesterol found in SLO. All known cases of SLO in the U.K. were reviewed and clinical details of photosensitivity were recorded in detail. The action spectrum of the photosensitive eruption was defined by monochromator light testing. Thirteen of the 23 subjects (57%) had severe photosensitivity, and in 10 there was no photosensitivity. No correlation was identified between levels of 7-dehydrocholesterol and severity of photosensitivity, suggesting that the photosensitivity in SLO is not caused by a direct phototoxic effect mediated by 7-dehydrocholesterol. A novel pattern of photosensitivity was observed, with onset of a sunburn-like erythema on sun-exposed skin within minutes of sun exposure, which persisted in most cases for up to 24-48 h before fading. Monochromator light testing in three subjects showed an ultraviolet (UV) A-mediated photosensitivity eruption with greatest photosensitivity at 350 nm. Photosensitivity is a common and prominent feature of SLO and appears to be UVA-mediated. Elucidation of its biochemical basis may provide insight into normal cutaneous protective mechanisms against UVA-induced photodamage, and also sun sensitivity in general. PMID:10583043

  12. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Bianconi, Simona E.; Cross, Joanna L.; Wassif, Christopher A.; Porter, Forbes D.

    2015-01-01

    Introduction Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. Areas covered In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. Expert opinion Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials. PMID:25734025

  13. Localization of a translocation breakpoint involved in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Alley, T.L.; Gray, B.A.; Lee, S.

    1994-09-01

    Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly/mental retardation syndrome, with features including toe syndactyly, genital anomalies, unusual facies, and occasional organ malformations. The gene(s) for this autosomal recessive disorder has not been mapped. Recent biochemical studies suggest that the defect may involve the penultimate step in cholesterol synthesis, as patients have low serum cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. However, the enzyme putatively involved (7-DHC reductase) has not been isolated. We identified an SLOS patient with a de novo balanced chromosome translocation [t(7;20)(q32.1;q13.2)], and we propose that the translocation interrupts one of the patient`s SLOS alleles. We are pursuing positional cloning to identify the SLOS gene. Using fluorescence in situ hybridization (FISH), we recently identified a chromosome 7 yeast artificial chromosome (YAC) that spans the breakpoint and places it onto physical and genetic maps. We are in the process of narrowing this region via overlapping YACs and YAC subclones, from which we will isolate candidate cDNAs. Any candidate gene disrupted by the translocation and mutated on the other allele will be proven to be the SLOS gene. Functional analysis of an SLOS cDNA may also determine its relationship to cholesterol metabolism and the observed biochemical abnormalities.

  14. Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

    PubMed

    Blassberg, Robert; Macrae, James I; Briscoe, James; Jacob, John

    2016-02-15

    Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder. Biochemically, there is a deficit in cholesterol and an accumulation of its metabolic precursor 7-dehydrocholesterol (7DHC) in developing tissues. Morphological abnormalities in SLOS resemble those seen in congenital Sonic Hedgehog (SHH)-deficient conditions, leading to the proposal that the pathogenesis of SLOS is mediated by aberrant SHH signalling. SHH signalling is transduced through the transmembrane protein Smoothened (SMO), which localizes to the primary cilium of a cell on activation and is both positively and negatively regulated by sterol molecules derived from cholesterol biosynthesis. One proposed mechanism of SLOS involves SMO dysregulation by altered sterol levels, but the salient sterol species has not been identified. Here, we clarify the relationship between disrupted cholesterol metabolism and reduced SHH signalling in SLOS by modelling the disorder in vitro. Our results indicate that a deficit in cholesterol, as opposed to an accumulation of 7DHC, impairs SMO activation and its localization to the primary cilium. PMID:26685159

  15. Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome

    PubMed Central

    Chang, Shaohua; Ren, Gongyi; Steiner, Robert D.; Merkens, Louise; Roullet, Jean-Baptiste; Korade, Zeljka; DiMuzio, Paul J.; Tulenko, Thomas N.

    2014-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Herein we show that dermal fibroblasts obtained from SLOS children display increased basal levels of LC3B-II, the hallmark protein signifying increased autophagy. The elevated LC3B-II is accompanied by increased beclin-1 and cellular autophagosome content. We also show that the LC3B-II concentration in SLOS cells is directly proportional to the cellular concentration of 7DHC, suggesting that the increased autophagy is caused by 7DHC accumulation secondary to defective DHCR7. Further, the increased basal LC3B-II levels were decreased significantly by pretreating the cells with antioxidants implicating a role for oxidative stress in elevating autophagy in SLOS cells. Considering the possible source of oxidative stress, we examined mitochondrial function in the SLOS cells using JC-1 assay and found significant mitochondrial dysfunction compared to mitochondria in control cells. In addition, the levels of PINK1 which targets dysfunctional mitochondria for removal by the autophagic pathway are elevated in SLOS cells, consistent with mitochondrial dysfunction as a stimulant of mitophagy in SLOS. This suggests the increase in autophagic activity may be protective, i.e., to remove dysfunctional mitochondria. Taken together, these studies are consistent with a role for mitochondrial dysfunction leading to increased autophagy in SLOS pathophysiology. PMID:25405082

  16. Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism

    PubMed Central

    Weaver, David D.; Solomon, Benjamin D.; Akin-Samson, Kelly; Kelley, Richard I.; Muenke, Maximilian

    2009-01-01

    Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2–3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9890 ng/mL; normal range = 3–9 ng/mL), and molecularly by detecting two different mutations in the DHCR7 gene, the gene causing SLOS. The first mutation was an IVS8-1G>T change and the second was a deletion of exons 3 and 4; this latter mutation has not been reported previously. The mother carries the deletion, while the father carries the splice-site mutation. Also of note, the father has an abnormally low total plasma cholesterol level (104–109 mg/dL). This is the most severe case of HPE described in any patient with SLOS. We postulate that the HPE in this case resulted from severe impairment of Sonic Hedgehog signaling secondary to abnormal cholesterol metabolism; however, the unique combination of mutations in the fetus functionally appears to be no different from other homozygous null mutations reported in DHCR7. Therefore, there must be other yet to be identified factors that contributed to the severity of HPE in SLOS. PMID:20104611

  17. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

    PubMed

    Weaver, David D; Solomon, Benjamin D; Akin-Samson, Kelly; Kelley, Richard I; Muenke, Maximilian

    2010-02-15

    Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890 ng/ml; normal range = 3-9 ng/ml), and molecularly by detecting two different mutations in the DHCR7 gene, the gene causing SLOS. The first mutation was an IVS8-1G>T change and the second was a deletion of exons 3 and 4; this latter mutation has not been reported previously. The mother carries the deletion, while the father carries the splice-site mutation. Also of note, the father has an abnormally low total plasma cholesterol level (104-109 mg/dl). This is the most severe case of HPE described in any patient with SLOS. We postulate that the HPE in this case resulted from severe impairment of Sonic Hedgehog signaling secondary to abnormal cholesterol metabolism; however, the unique combination of mutations in the fetus functionally appears to be no different from other homozygous null mutations reported in DHCR7. Therefore, there must be other yet to be identified factors that contributed to the severity of HPE in SLOS. PMID:20104611

  18. FEEDING IMPAIRMENTS ASSOCIATED WITH PLASMA STEROLS IN SMITH-LEMLI-OPITZ SYNDROME

    PubMed Central

    Merkens, Mark J; Sinden, Nancy L; Brown, Christine D; Merkens, Louise S; Roullet, Jean-Baptiste; Nguyen, Thuan; Steiner, Robert D

    2014-01-01

    Objective To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz Syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity. Study design Subjects were 26 children with SLOS, 0.4 to 19 years age. Clinical severity was measured using an existing scoring system. We created a tool to quantitatively evaluate feeding. Plasma sterol concentrations were measured, and statistical associations (correlations) with feeding scores were calculated. Results Oral hypo- or hypersensitivity, adverse behaviors, and risk for dysphagia were seen in ~65% of children with SLOS; 13/26 children experienced failure-to-thrive (FTT), and 10/26 required gastrostomy. 7DHC concentrations, as a measure of severity, correlated with Total Feeding Score and the Oral Function subcategory score (p<.001), less so with Oral Structure, adverse behaviors or dysphagia. Correlations with cholesterol concentrations were not statistically significant. 7DHC > 0.24 mmol/L or Chol < 1.95 mmol/L is predictive of gastrostomy use. Feeding impairments may improve with age. Conclusions Feeding impairment is common and complex in patients with SLOS. Findings confirm that oral sensitivities, adverse feeding behaviors and risk of oral phase dysphagia are amenable to quantitative evaluation and analysis. Feeding difficulties in children with SLOS are correlated with plasma sterol concentrations, suggesting a link between the biochemical severity in SLOS and feeding function. These findings expand the behavioral phenotype of SLOS and begin to provide insights into the biologic causes of feeding difficulties. PMID:25039049

  19. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

    PubMed

    Prasad, Chitra; Marles, Sandra; Prasad, Asuri N; Nikkel, Sarah; Longstaffe, Sally; Peabody, Deborah; Eng, Barry; Wright, Sarah; Waye, John S; Nowaczyk, Małgorzata J M

    2002-02-15

    Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in DHCR7. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2-3 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol/L (normal 2.97-4.40 mmol/L). Elevated plasma 7-dehydrocholesterol level of 200.0 micromol/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8-1G -->C and Y280C, a new missense mutation in DHCR7. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype. PMID:11857552

  20. Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome (SLOS)

    PubMed Central

    Chan, Yen-Ming; Merkens, Louise S.; Connor, William E.; Roullet, Jean-Baptiste; Penfield, Jennifer A.; Jordan, Julia M.; Steiner, Robert D.; Jones, Peter J.H.

    2009-01-01

    Deficient cholesterol and/or excessive 7-dehydrocholesterol (7-DHC) may be responsible for the pathology of Smith-Lemli-Opitz syndrome (SLOS). Both high cholesterol diets given to ameliorate cholesterol deficiency while decreasing 7-DHC, and cholesterol-enriched diets plus simvastatin to further decrease sterol synthesis, have been used as potential therapies. However, the effect of dietary cholesterol and simvastatin on cholesterol synthesis in SLOS has not been reported. Twelve SLOS subjects enrolled in the study: Nine had received a high cholesterol diet (HI) for 3 years, and three were studied after 4 weeks on a low cholesterol diet (LO). Cholesterol fractional synthesis rate (FSR) was measured after oral administration of deuterium oxide, using gas-chromatography-isotope ratio mass spectrometry. FSR was lower in HI compared with LO (HI: 1.46±0.62%/d; LO: 4.77±0.95%/d; P<0.001). Three HI subjects were re-tested after 0.8 years taking simvastatin (HI+ST). Simvastatin tended to reduce FSR and significantly decreased (P<0.01) plasma 7-DHC compared to cholesterol supplementation alone. The study demonstrates the utility of the deuterium incorporation method to understand the effect of therapeutic interventions in SLOS. The data suggest that dietary cholesterol supplementation reduces cholesterol synthesis in SLOS and further support the rationale for the combined treatment of SLOS with a cholesterol-enriched diet and simvastatin. PMID:19430384

  1. A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

    PubMed Central

    Ko, Jae Sung; Choi, Byung Sam; Shin, Jee Yeon; Chae, Jong Hee; Kang, Gyeong Hoon; Lee, Ran; Ki, Chang-Seok; Kim, Jong-Won

    2010-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels. PMID:20052364

  2. Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.

    PubMed

    Fliesler, Steven J; Vaughan, Dana K; Jenewein, Erin C; Richards, Michael J; Nagel, Barbara A; Peachey, Neal S

    2007-03-01

    The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, failure to thrive, cognitive and behavioral impairments, and retinopathy. Using a pharmacologically induced rat model of SLOS that exhibits key hallmarks of the disease, including progressive retinal degeneration and dysfunction, we show that a high-cholesterol diet can substantially correct abnormalities in retinal sterol composition, with concomitant improvement of visual function, particularly within the cone pathway. Although histologic degeneration still occurred, a high-cholesterol diet reduced the number of pyknotic photoreceptor nuclei, relative to animals on a cholesterol-free diet. These findings demonstrate that cholesterol readily crosses the blood-retina barrier (unlike the blood-brain barrier) and suggest that cholesterol supplementation may be efficacious in treating SLOS-associated retinopathy. PMID:17314682

  3. Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Windsor, Katherine; Genaro-Mattos, Thiago C.; Kim, Hye-Young H.; Liu, Wei; Tallman, Keri A.; Miyamoto, Sayuri; Korade, Zeljka; Porter, Ned A.

    2013-01-01

    Lipid modifications aid in regulating (and misregulating) protein function and localization. However, efficient methods to screen for a lipid's ability to modify proteins are not readily available. We present a strategy to identify protein-reactive lipids and apply it to a neurodevelopmental disorder, Smith-Lemli-Opitz syndrome (SLOS). Alkynyl surrogates were synthesized for polyunsaturated fatty acids, phospholipids, cholesterol, 7-dehydrocholesterol (7-DHC), and a 7-DHC-derived oxysterol. To probe for protein-reactive lipids, we used click chemistry to biotinylate the alkynyl tag and detected the lipid-adducted proteins with streptavidin Western blotting. In Neuro2a cells, the trend in amount of protein adduction followed known rates of lipid peroxidation (7-DHC >> arachidonic acid > linoleic acid >> cholesterol), with alkynyl-7-DHC producing the most adduction among alkynyl lipids. 7-DHC reductase-deficient cells, which cannot properly metabolize 7-DHC, exhibited significantly more alkynyl-7-DHC-protein adduction than control cells. Model studies demonstrated that a 7-DHC peroxidation product covalently modifies proteins. We hypothesize that 7-DHC generates electrophiles that can modify the proteome, contributing to SLOS's complex pathology. These probes and methods would allow for analysis of lipid-modified proteomes in SLOS and other disorders exhibiting 7-DHC accumulation. More broadly, the alkynyl lipid library would facilitate exploration of lipid peroxidation's role in specific biological processes in numerous diseases. PMID:23828810

  4. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

    PubMed

    Wassif, C A; Zhu, P; Kratz, L; Krakowiak, P A; Battaile, K P; Weight, F F; Grinberg, A; Steiner, R D; Nwokoro, N A; Kelley, R I; Stewart, R R; Porter, F D

    2001-03-15

    The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autosomal recessive syndrome characterized by multiple malformations, a distinct behavioral phenotype with autistic features and mental retardation. RSH/SLOS is due to an inborn error of cholesterol biosynthesis caused by mutation of the 3 beta-hydroxysterol Delta(7)-reductase gene. To further our understanding of the developmental and neurological processes that underlie the pathophysiology of this disorder, we have developed a mouse model of RSH/SLOS by disruption of the 3 beta-hydroxysterol Delta(7)-reductase gene. Here we provide the biochemical, phenotypic and neurophysiological characterization of this genetic mouse model. As in human patients, the RSH/SLOS mouse has a marked reduction of serum and tissue cholesterol levels and a marked increase of serum and tissue 7-dehydrocholesterol levels. Phenotypic similarities between this mouse model and the human syndrome include intra-uterine growth retardation, variable craniofacial anomalies including cleft palate, poor feeding with an uncoordinated suck, hypotonia and decreased movement. Neurophysiological studies showed that although the response of frontal cortex neurons to the neurotransmitter gamma-amino-n-butyric acid was normal, the response of these same neurons to glutamate was significantly impaired. This finding provides insight into potential mechanisms underlying the neurological dysfunction seen in this human mental retardation syndrome and suggests that this mouse model will allow the testing of potential therapeutic interventions. PMID:11230174

  5. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog?

    SciTech Connect

    Kelley, R.I.; Roessler, E.; Muenke, M.

    1996-12-30

    The RAH/Smith-Lemli-Opitz syndrome (RAH/SLOS) is an autosomal recessive malformation syndrome associated with increased levels of 7-dehydrocholesterol (7-DHC) and a defect of cholesterol biosynthesis at the level of 3{beta}-hydroxy-steroid-{Delta}{sup 7}-reductase (7-DHC reductase). Because rats exposed to inhibitors of 7-DHC reductase during development have a high frequency of holoprosencephaly (HPE), we have undertaken a search for biochemical evidence of RSH/SLOS and other possible defects of sterol metabolism among patients with various forms of HPE. We describe 4 patients, one with semilobar HPE and three others with less complete forms of the HPE sequence, in whom we have made a biochemical diagnosis of RAH/SLOS. The clinical and biochemical spectrum of these and other patients with RAH/SLOS suggests a role of abnormal sterol metabolism in the pathogenesis of their malformations. The association of HPE and RAH/SLOS is discussed in light of the recent discoveries that mutations in the embryonic patterning gene, Sonic Hedgehog (SHH), can cause HPE in humans and that the sonic hedgehog protein product undergoes autoproteolysis to form a cholesterol-modified active product. These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possibly, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems. 37 refs., 1 fig.

  6. 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

  7. 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

  8. Alterations in Membrane Caveolae and BKCa Channel Activity in Skin Fibroblasts in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Ren, Gongyi; Jacob, Robert F.; Kaulin, Yuri; DiMuzio, Paul; Xie, Yi; Mason, R. Preston; Tint, G. Stephen; Steiner, Robert D.; Roulett, Jean-Baptiste; Merkens, Louise; Whitaker-Mendez, Diana; Frank, Phillipe G.; Lisanti, Michael; Cox, Robert H.; Tulenko, Thomas N.

    2011-01-01

    The Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol synthesis caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC) accumulates in the plasma and cells of SLOS patients which has led to the idea that the accumulation of abnormal sterols and/or reduction in cholesterol underlies the phenotypic abnormalities of SLOS. We tested the hypothesis that 7-DHC accumulates in membrane caveolae where it disturbs caveolar bilayer structure-function. Membrane caveolae from skin fibroblasts obtained from SLOS patients were isolated and found to accumulate 7-DHC. In caveolar-like model membranes containing 7-DHC, subtle, but complex alterations in intermolecular packing, lipid order and membrane width were observed. In addition, the BKCa K+ channel, which co-migrates with caveolin-1 in a membrane fraction enriched with cholesterol, was impaired in SLOS cells as reflected by reduced single channel conductance and a 50 mV rightward shift in the channel activation voltage. In addition, a marked decrease in BKCa protein but not mRNA expression levels were seen suggesting post-translational alterations. Accompanying these changes was a reduction in caveolin-1 protein and mRNA levels, but membrane caveolar structure was not altered. These results are consistent with the hypothesis that 7-DHC accumulation in the caveolar membrane results in defective caveolar signaling. However, additional cellular alterations beyond mere changes associated with abnormal sterols in the membrane likely contribute to the pathogenesis of SLOS. PMID:21724437

  9. Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

    PubMed Central

    Alley, T L; Gray, B A; Lee, S H; Scherer, S W; Tsui, L C; Tint, G S; Williams, C A; Zori, R; Wallace, M R

    1995-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in cholesterol biosynthesis has been shown to occur in most SLOS patients. The defect is suspected to occur in the penultimate step of the cholesterol pathway, involving the enzyme 7-dehydrocholesterol reductase, which has not been isolated. On the basis of the hypothesis that a de novo balanced translocation [t(7;20)(q32.1;q13.2)] in an SLOS patient directly interrupts the SLOS gene, positional cloning techniques are being employed to localize and identify the SLOS gene. We report the identification of a chromosome 7-specific YAC that spans the translocation breakpoint, as detected by FISH. This is the first study narrowing a candidate SLOS region and placing it on physical and genetic maps of the human genome. Images Figure 1 PMID:7762564

  10. 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.

  11. Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

    PubMed Central

    Xu, G; Salen, G; Shefer, S; Ness, G C; Chen, T S; Zhao, Z; Tint, G S

    1995-01-01

    The Smith-Lemli-Opitz syndrome is a recessive inherited disorder characterized by neurologic developmental defects and dysmorphic features in many organs. Recently, abnormal cholesterol biosynthesis with impaired conversion of 7-dehydrocholesterol to cholesterol has been discovered in homozygotes. To reproduce the biochemical abnormality, BM 15.766, a competitive inhibitor of 7-dehydrocholesterol-delta 7-reductase, the enzyme that catalyzes the conversion of 7-dehydrocholesterol into cholesterol was fed by gavage to rats. After 14 d, plasma cholesterol concentrations declined from 48 mg/dl to 16 mg/dl and 7-dehydro-cholesterol levels rose from trace to 17 mg/dl. Hepatocytes surrounding the central vein developed balloon necrosis. Stimulating cholesterol synthesis with cholestyramine followed by BM 15.766 produced an additional 40% decline (P < 0.05) in plasma cholesterol and 34% increase in 7-dehydrocholesterol levels compared to the inhibitor alone. Adding 2% cholesterol to the diet during the second week of BM 15.766 treatment increased plasma cholesterol threefold and decreased 7-dehydrocholesterol concentrations 55%. Hepatic 3-hydroxy-3-methylglutaryl co-enzyme A (HMG-CoA) reductase activity increased 73% with a 3.9-fold rise in mRNA levels but cholesterol 7 alpha-hydroxylase activity decreased slightly though mRNA levels increased 1.4 times with BM 15.766 treatment. These results demonstrate that BM 15.766 is a potent inhibitor of 7-dehydrocholesterol-delta 7-reductase. The model reproduces abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome and is useful to test different treatment strategies. Stimulating early steps of cholesterol synthesis worsens the biochemical abnormalities while feeding cholesterol inhibits abnormal synthesis, improves the biochemical abnormalities and prevents liver damage. Images PMID:7814648

  12. 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

  13. Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Pasta, Saloni; Akhile, Omoye; Tabron, Dorothy; Ting, Flora; Shackleton, Cedric; Watson, Gordon

    2015-01-01

    Smith Lemli Opitz syndrome (SLOS) is an inherited malformation and mental retardation metabolic disorder with no cure. Mutations in the last enzyme of the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7), lead to cholesterol insufficiency and accumulation of its dehyrdocholesterol precursors, and contribute to its pathogenesis. The central nervous system (CNS) constitutes a major pathophysiological component of this disorder and remains unamenable to dietary cholesterol therapy due to the impenetrability of the blood brain barrier (BBB). The goal of this study was to restore sterol homeostasis in the CNS. To bypass the BBB, gene therapy using an adeno-associated virus (AAV-8) vector carrying a functional copy of the DHCR7 gene was administered by intrathecal (IT) injection directly into the cerebrospinal fluid of newborn mice. Two months post-treatment, vector DNA and DHCR7 expression was observed in the brain and a corresponding improvement of sterol levels seen in the brain and spinal cord. Interestingly, sterol levels in the peripheral nervous system also showed a similar improvement. This study shows that IT gene therapy can have a positive biochemical effect on sterol homeostasis in the central and peripheral nervous systems in a SLOS animal model. A single dose delivered three days after birth had a sustained effect into adulthood, eight weeks post-treatment. These observations pave the way for further studies to understand the effect of biochemical improvement of sterol levels on neuronal function, to provide a greater understanding of neuronal cholesterol homeostasis, and to develop potential therapies. PMID:26347274

  14. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

    PubMed

    Francis, Kevin R; Ton, Amy N; Xin, Yao; O'Halloran, Peter E; Wassif, Christopher A; Malik, Nasir; Williams, Ian M; Cluzeau, Celine V; Trivedi, Niraj S; Pavan, William J; Cho, Wonhwa; Westphal, Heiner; Porter, Forbes D

    2016-04-01

    Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. SLOS results in cognitive impairment, behavioral abnormalities and nervous system defects, though neither affected cell types nor impaired signaling pathways are fully understood. Whether 7DHC accumulation or cholesterol loss is primarily responsible for disease pathogenesis is also unclear. Using induced pluripotent stem cells (iPSCs) from subjects with SLOS, we identified cellular defects that lead to precocious neuronal specification within SLOS derived neural progenitors. We also demonstrated that 7DHC accumulation, not cholesterol deficiency, is critical for SLOS-associated defects. We further identified downregulation of Wnt/β-catenin signaling as a key initiator of aberrant SLOS iPSC differentiation through the direct inhibitory effects of 7DHC on the formation of an active Wnt receptor complex. Activation of canonical Wnt signaling prevented the neural phenotypes observed in SLOS iPSCs, suggesting that Wnt signaling may be a promising therapeutic target for SLOS. PMID:26998835

  15. Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

    PubMed Central

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

    2010-01-01

    Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. Investigations of such mutants have relied on tissue and blood levels of the cholesterol precursor 7-dehydrocholesterol (7DHC) and its 8-dehydro isomer. In this investigation by gas chromatography/mass spectrometry (GC/MS) we have identified and quantified cholesterol and its precursors (7DHC, desmosterol, lathosterol, lanosterol and cholest-7,24-dien-3β-ol) in mouse hair. The components were characterized and their concentrations were compared to those found in mouse skin and serum. Hair appeared unique in that desmosterol was a major sterol component, almost matching in concentration cholesterol itself. In DHCR7 deficient mice, dehydrodesmosterol (DHD) was the dominant hair Δ7 sterol. Mutant mouse hair had much higher concentrations of 7-dehydrosterols relative to cholesterol than did serum or tissue at all ages studied. The 7DHC/C ratio in hair was typically about sevenfold the value in serum or skin and the DHD/D ratio was 100X that of the serum 7DHC/C ratio. Mutant mice compensate for their DHCR7 deficiency with maturity, and the tissue and blood 7DHC/C become close to normal. That hair retains high relative concentrations of the dehydro precursors suggests that the apparent up-regulation of Dhcr7 seen in liver is slower to develop at the site of hair cholesterol synthesis. PMID:20804844

  16. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.

    PubMed

    Matabosch, Xavier; Rahman, Mahbuba; Hughes, Beverly; Patel, Shailendra B; Watson, Gordon; Shackleton, Cedric

    2009-08-01

    This study has shown that the mouse has a great increase in steroid production during pregnancy in similar fashion to the human. Many steroids were provisionally identified in maternal urine of the wild-type mouse. The major progesterone metabolites appear to be hydroxylated pregnanolones, particularly with hydroxyl groups in the 16alpha position. Rather than estriol being the major end-product of feto-placental steroid synthesis as in the human, the pregnant mouse produces and excretes large amounts of androgen metabolites, ranging in polarity from androstanetriols to androstanepentols. These steroids have 15alpha- or 18-hydroxyl groups with additional hydroxylation at uncharacterized positions. From metabolite data the peak of pregnancy progesterone production appears to be between 7.5 and 14.5 gestational days, while for C(19) metabolites peak excretion is later. The starting-point of the studies was to study pregnancy steroid production by a mouse model for Smith-Lemli-Opitz syndrome, 7-dehydrosterol reductase (DHCR7) deficiency. In human pregnancies with DHCR7 deficient fetuses large amounts of 7- and 8-dehydrosteroids are excreted, products secondary to high fetal 7- and 8-dehydrocholesterol (DHC) accumulation. This agrees with existing evidence that human feto-placental steroid synthesis utilizes little maternal cholesterol as precursor. In contrast, this study has shown that pregnant mice carrying dhcr7 deficient fetuses with relatively high DHC production had essentially undetectable maternal excretions of steroids with Delta(7)- and Delta(8)-unsaturation. As mutant mouse mothers have essentially normal cholesterol production (little or no DHC build-up), this suggests maternal cholesterol is primarily utilized for pregnancy steroid synthesis in the mouse. PMID:19406241

  17. Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

    PubMed Central

    Schreiber, John M.; Lanham, Diane C.; Trescher, William H.; Sparks, Susan E.; Wassif, Christopher A.; Caffo, Brian S.; Porter, Forbes D.; Tierney, Elaine; Gropman, Andrea L.

    2014-01-01

    Objective: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity. Methods: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4–17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms. Results: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the “IED” group (according to Autism Diagnostic Observation Schedule–2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity. Conclusions: Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures. PMID:24920862

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

    MedlinePlus

    ... body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Cholesterol is necessary for normal embryonic development and has important functions ...

  19. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

    PubMed

    Teebi, A S; Druker, H A

    2001-01-01

    We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases. PMID:11152154

  20. Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

    PubMed Central

    Biesecker, L G; Kang, S; Schäffer, A A; Abbott, M; Kelley, R I; Allen, J C; Clericuzio, C; Grebe, T; Olney, A; Graham, J M

    1996-01-01

    Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and vertical transmission. Three of these families are sufficiently large to allow initial evaluation by linkage studies to candidate genes or loci. We have evaluated candidate loci for PHS based on three clinical observations. The first is a patient with PHS-like malformations, including a hypothalamic hamartoma, and an unbalanced translocation involving 7q and 3p. The second is a family with familial PHS where the founder's father had an autosomal dominant hand malformation previously mapped to 17q. The third is the phenotypic overlap of PHS and Smith-Lemli-Opitz syndrome. In this report, we exclude these loci as candidates for linkage to the PHS phenotype on the basis of lod scores of less than-2.0. We conclude that hypothalamic hamartoma is not specific to PHS and that the dominant hand malformation in one of the families was a coincidence. To evaluate the relationship of PHS to Smith-Lemli-Opitz syndrome, we analysed levels of cholesterol and intermediate metabolites of the later stages of cholesterol biosynthesis. There is no evidence of a generalised disorder of cholesterol biosynthesis in patients with familial PHS. On genetic and biochemical grounds, we conclude that PHS and Smith-Lemli-Opitz syndrome are not allelic variants of a single locus. PMID:8950676

  1. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

    PubMed Central

    Pineda-Alvarez, Daniel E.; Dubourg, Christèle; David, Véronique; Roessler, Erich; Muenke, Maximilian

    2009-01-01

    Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with “pseudo”-autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g. Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g. SHH, ZIC2 and SIX3). In this review, we provide current step-by-step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide. PMID:20104604

  2. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

    PubMed

    Pineda-Alvarez, Daniel E; Dubourg, Christèle; David, Véronique; Roessler, Erich; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3). In this review, we provide current step-by-step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide. PMID:20104604

  3. Polydactyly

    MedlinePlus

    Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Trisomy 13

  4. Micrognathia

    MedlinePlus

    ... syndrome Smith-Lemli-Opitz syndrome Treacher-Collins syndrome Trisomy 13 Trisomy 18 XO syndrome ( Turner syndrome ) ... Does the child have trouble eating? What other symptoms are present? The physical exam will include a ...

  5. Malformation syndromes caused by disorders of cholesterol synthesis

    PubMed Central

    Porter, Forbes D.; Herman, Gail E.

    2011-01-01

    Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

  6. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

    PubMed

    de Pontual, L; Pelet, A; Clement-Ziza, M; Trochet, D; Antonarakis, S E; Attie-Bitach, T; Beales, P L; Blouin, J-L; Dastot-Le Moal, F; Dollfus, H; Goossens, M; Katsanis, N; Touraine, R; Feingold, J; Munnich, A; Lyonnet, S; Amiel, J

    2007-08-01

    Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility loci under a multiplicative model. HSCR susceptibility alleles can harbor either heterozygous coding sequence mutations or, more frequently, a polymorphism within intron 1, leading to a hypomorphic RET allele. On the other hand, about 30% of HSCR are syndromic. Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS). According to the HSCR syndrome, the penetrance of HSCR trait varies from 5 to 70%. Trisomy 21 (T21) also predisposes to HSCR. We were able to collect a series of 393 patients affected by CCHS (n = 173), WS4 (n = 24), BBS (n = 51), MWS (n = 71), T21 (n = 46), and mental retardation (MR) with HSCR (n = 28). For each syndrome, we studied the RET locus in two subgroups of patients; i.e., with or without HSCR. We genotyped the RET locus in 393 patients among whom 195 had HSCR, and compared the distribution of alleles and genotypes within the two groups for each syndrome. RET acts as a modifier gene for the HSCR phenotype in patients with CCHS, BBS, and Down syndrome, but not in patients with MWS and WS4. The frequent, low penetrant, predisposing allele of the RET gene can be regarded as a risk factor for the HSCR phenotype in CCHS, BBS, and Down syndrome, while its role is not significant in MWS and WS4. These data highlight the pivotal role of the RET gene in both isolated and syndromic HSCR. PMID:17397038

  7. Intellectual and Developmental Disabilities

    MedlinePlus

    ... Autism NICHD researchers identify cause of rare disease, Smith-Lemli-Opitz syndrome NIH researchers uncover how neurons die in Niemann-Pick disease type C1 All related news Home Contact Web Policies and Notices FOIA Facebook Twitter Pinterest YouTube ...

  8. What Are Intellectual and Developmental Disabilities (IDDs)?

    MedlinePlus

    ... Autism NICHD researchers identify cause of rare disease, Smith-Lemli-Opitz syndrome NIH researchers uncover how neurons die in Niemann-Pick disease type C1 All related news Home Contact Web Policies and Notices FOIA Facebook Twitter Pinterest YouTube ...

  9. What Are Treatments for Intellectual & Developmental Disabilities (IDDs)?

    MedlinePlus

    ... Autism NICHD researchers identify cause of rare disease, Smith-Lemli-Opitz syndrome NIH researchers uncover how neurons die in Niemann-Pick disease type C1 All related news Home Contact Web Policies and Notices FOIA Facebook Twitter Pinterest YouTube ...

  10. Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)

    MedlinePlus

    ... CDC.gov . Hantavirus Share Compartir Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS) Diagnosing HPS Diagnosing HPS in ... is no specific treatment, cure, or vaccine for hantavirus infection. However, we do know that if infected ...

  11. 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.

  12. 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.

  13. Scheie syndrome diagnosed after cerebral infarction.

    PubMed

    Fujii, Daiki; Manabe, Yasuhiro; Tanaka, Tomotaka; Kono, Syoichiro; Sakai, Yasuko; Narai, Hisashi; Omori, Nobuhiko; Furujyo, Mahoko; Abe, Koji

    2012-05-01

    We report a 41-year-old woman with Scheie syndrome diagnosed after cerebral infarction. She presented with acute onset dysarthria and right upper limb weakness. The neurologic findings revealed dysarthria, right central facial paralysis, mild right hemiparesis, and mild sensory impairment in the right arm and leg. Diffusion-weighted magnetic resonance imaging (MRI) showed subtle high signal lesions in the left corona radiata and posterior limb of the internal capsule. The diagnosis was made by a coarse facial appearance, claw hands, pigmentary degeneration of the bilateral retinas, and a deficiency of the enzymatic activity of lysosomal α-L-iduronidase. The patient was successfully treated with intravenous recombinant tissue plasminogen activator (rtPA) followed by enzyme replacement therapy. The prognosis of this disease would improve with enzyme replacement therapy. It is necessary to be aware of cerebral infarction in patients with Scheie syndrome. PMID:21167740

  14. Diagnoses of corticobasal syndrome and corticobasal degeneration.

    PubMed

    Shimohata, Takayoshi; Aiba, Ikuko; Nishizawa, Masatoyo

    2016-03-30

    Experts use the term corticobasal syndrome (CBS) for patients with a clinical diagnosis of corticobasal degeneration (CBD), and reserve CBD for those whose conditions have been diagnosed on the basis of neuropathological analyses. Several studies demonstrated that patients with CBD may also present with progressive supranuclear syndrome (PSPS), aphasia, Alzheimer disease-like dementia or behavioral change, suggesting that CBS is merely one of the presenting phenotypes of CBD. Although previous CBD diagnostic criteria reflected only CBS, the international consortium proposed new diagnostic criteria for CBD in 2013 (Armstrong's criteria). The new criteria include 4 CBD subtypes; CBS, frontal behavioral-spatial syndrome (FBS), nonfluent/agrammatic variant of primary progressive aphasia (naPPA),and PSPS. These subtypes were combined to create 2 sets of criteria: more specific clinical research criteria for probable CBD (cr-CBD) and broader criteria for possible CBD that are more inclusive but have a higher chance to detect other tau-based pathologies (p-CBD). Two studies have already revealed that the sensitivity and specificity of the criteria were not high. Because therapeutic interventions that target abnormally-phosphorylated tau have started, further refinement of the criteria is needed via biomarker researches with prospective study designs. PMID:26876110

  15. 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 ...

  16. How Do Health Care Providers Diagnose Fragile X Syndrome?

    MedlinePlus

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Fragile X syndrome? Skip sharing on social media links Share this: Page Content Health care providers often use a blood sample to diagnose ...

  17. 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 ...

  18. 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 ...

  19. Pelvic congestion syndrome diagnosed using endoscopic ultrasonography.

    PubMed

    Cho, S J; Lee, T H; Shim, K Y; Hong, S S; Goo, D E

    2014-03-01

    Pelvic congestion syndrome (PCS) presents with a non-cyclic pelvic pain lasting more than six months in duration in premenopausal women. Pelvic ultrasonography or computed tomography is usually the first imaging modality used to evaluate patients with suspected PCS. PCS is confirmed by visible congestion of the pelvic veins on selective ovarian venography. To our knowledge, the role of endoscopic ultrasonography (EUS) has not been reported. EUS showed multiple dilated structures especially on left side around the uterus and ovaries, which are compatible with other radiological investigations of PCS Although PCS is not typical areas within the scope of practice of endosonographers, it is useful to be familiar with the findings. We report a case of PCS that was diagnosed with the aid of EUS. PMID:24618909

  20. Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.

    PubMed Central

    Yang, S P; Bidichandani, S I; Figuera, L E; Juyal, R C; Saxon, P J; Baldini, A; Patel, P I

    1997-01-01

    A male child with multiple congenital anomalies initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS). Subsequent cytogenetic studies revealed an interstitial deletion of 17p11.2, which is associated with Smith-Magenis syndrome (SMS). Biochemical studies were not supportive of a diagnosis of SLOS, and the child did not display the typical SMS phenotype. The father's karyotype showed a paracentric inversion of 17p, with breakpoints in p11.2 and p13.3, and the same inversion was also found in two of the father's sisters. FISH analyses of the deleted and inverted 17p chromosomes indicated that the deletion was similar to that typically seen in SMS patients and was found to bracket the proximal inversion breakpoint. Available family members were genotyped at 33 polymorphic DNA loci in 17p. These studies determined that the deletion was of paternal origin and that the inversion was of grandpaternal origin. Haplotype analysis demonstrated that the 17p11.2 deletion arose following a recombination event involving the father's normal and inverted chromosome 17 homologues. A mechanism is proposed to explain the simultaneous deletion and apparent "reinversion" of the recombinant paternal chromosome. These findings have implications for prenatal counseling of carriers of paracentric inversions, who typically are considered to bear minimal reproductive risk. Images Figure 1 Figure 2 Figure 3 PMID:9150166

  1. Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders.

    PubMed

    Natesan, Senthilkumar A; Handyside, Alan H; Thornhill, Alan R; Ottolini, Christian S; Sage, Karen; Summers, Michael C; Konstantinidis, Michalis; Wells, Dagan; Griffin, Darren K

    2014-11-01

    Preimplantation genetic diagnosis (PGD) for monogenic disorders has the drawback of time and cost associated with tailoring a specific test for each couple, disorder, or both. The inability of any single assay to detect the monogenic disorder in question and simultaneously the chromosomal complement of the embryo also limits its application as separate tests may need to be carried out on the amplified material. The first clinical use of a novel approach ('karyomapping') was designed to circumvent this problem. In this example, karyomapping was used to confirm the results of an existing PGD case detecting both chromosomal abnormalities and a monogenic disorder (Smith-Lemli-Opitz [SLO] syndrome) simultaneously. The family underwent IVF, ICSI and PGD, and both polar body and cleavage stage biopsy were carried out. Following whole genome amplification, array comparative genomic hybridisation of the polar bodies and minisequencing and STR analysis of single blastomeres were used to diagnose maternal aneuploidies and SLO status, respectively. This was confirmed, by karyomapping. Unlike standard PGD, karyomapping required no a-priori test development. A singleton pregnancy and live birth, unaffected with SLO syndrome and with no chromosome abnormality, ensued. Karyomapping is potentially capable of detecting a wide spectrum of monogenic and chromosome disorders and, in this context, can be considered a comprehensive approach to PGD. PMID:25154779

  2. 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.

  3. Characterization of large deletions in the DHCR7 gene.

    PubMed

    Lanthaler, B; Hinderhofer, K; Maas, B; Haas, D; Sawyer, H; Burton-Jones, S; Carter, K; Suri, M; Witsch-Baumgartner, M

    2015-08-01

    Pathogenic variants in the DHCR7 gene cause Smith-Lemli-Opitz syndrome (SLOS), a defect of cholesterol biosynthesis resulting in an autosomal recessive congenital metabolic malformation disorder. In approximately 4% of patients, the second mutation remains unidentified. In this study, 12 SLOS patients diagnosed clinically and/or by elevated 7-dehydrocholesterol (7-DHC) have been investigated by customized multiplex ligation-dependent probe amplification (MLPA) analysis, because only one DHCR7 sequence variant has been detected. Two unrelated patients of this cohort carry different large deletions in the DHCR7 gene. One patient showed a deletion of exons 3-6. The second patient has a deletion of exons 1 and 2 (non-coding) and lacks the major part of the promoter. These two patients show typical clinical and biochemical phenotypes of SLOS. Second disease-causing mutations are p.(Arg352Trp) and p.(Thr93Met), respectively. Deletion breakpoints were characterized successfully in both cases. Such large deletions are rare in the DHCR7 gene but will resolve some of the patients in whom a second mutation has not been detected. PMID:25040602

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. How to diagnose a lipodystrophy syndrome.

    PubMed

    Vantyghem, Marie-Christine; Balavoine, Anne-Sophie; Douillard, Claire; Defrance, Frédérique; Dieudonne, Lucile; Mouton, Fanny; Lemaire, Christine; Bertrand-Escouflaire, Nicole; Bourdelle-Hego, Marie-Françoise; Devemy, Fabrice; Evrard, Anne; Gheerbrand, Dominique; Girardot, Caroline; Gumuche, Sophie; Hober, Christine; Topolinski, Hélène; Lamblin, Blandine; Mycinski, Bénédicte; Ryndak, Amélie; Karrouz, Wassila; Duvivier, Etienne; Merlen, Emilie; Cortet, Christine; Weill, Jacques; Lacroix, Dominique; Wémeau, Jean-Louis

    2012-06-01

    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders. PMID:22748602

  8. 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

  9. Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

    PubMed Central

    Coromilas, Alexandra; Wynn, Julia; Haverfield, Eden; Chung, Wendy K

    2015-01-01

    Key Clinical Message Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone. PMID:25914815

  10. Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.

    PubMed

    Sever, Navdar; Mann, Randall K; Xu, Libin; Snell, William J; Hernandez-Lara, Carmen I; Porter, Ned A; Beachy, Philip A

    2016-05-24

    Cellular lipids are speculated to act as key intermediates in Hedgehog signal transduction, but their precise identity and function remain enigmatic. In an effort to identify such lipids, we pursued a Hedgehog pathway inhibitory activity that is particularly abundant in flagellar lipids of Chlamydomonas reinhardtii, resulting in the purification and identification of ergosterol endoperoxide, a B-ring oxysterol. A mammalian analog of ergosterol, 7-dehydrocholesterol (7-DHC), accumulates in Smith-Lemli-Opitz syndrome, a human genetic disease that phenocopies deficient Hedgehog signaling and is caused by genetic loss of 7-DHC reductase. We found that depleting endogenous 7-DHC with methyl-β-cyclodextrin treatment enhances Hedgehog activation by a pathway agonist. Conversely, exogenous addition of 3β,5α-dihydroxycholest-7-en-6-one, a naturally occurring B-ring oxysterol derived from 7-DHC that also accumulates in Smith-Lemli-Opitz syndrome, blocked Hedgehog signaling by inhibiting activation of the essential transduction component Smoothened, through a mechanism distinct from Smoothened modulation by other lipids. PMID:27162362

  11. Antibody to Coxsackie B virus in diagnosing postviral fatigue syndrome.

    PubMed Central

    Miller, N A; Carmichael, H A; Calder, B D; Behan, P O; Bell, E J; McCartney, R A; Hall, F C

    1991-01-01

    OBJECTIVE--To study the association between coxsackie B virus infection and the postviral fatigue syndrome and to assess the immunological abnormalities associated with the syndrome. DESIGN--Case-control study of patients with the postviral fatigue syndrome referred by local general practitioners over one year. SETTING--General practitioner referrals in Dunbartonshire, Scotland. PATIENTS--254 Patients referred with the postviral fatigue syndrome (exhaustion, myalgia, and other symptoms referable to postviral fatigue syndrome of fairly recent onset--that is, several months) and age and sex matched controls obtained from same general practitioner; 11 patients were rejected because of wrong diagnoses, resolution of symptoms, and refusal to participate, leaving 243 patients and matched controls. MAIN OUTCOME MEASURES--Detailed questionnaire (patients and controls) and clinical examination (patients) and blind analysis of blood sample at entry and after six months for determination of coxsackie B virus IgM and IgG antibodies and other variables (including lymphocyte protein synthesis, lymphocyte subsets, and immune complexes). RESULTS--Percentage positive rates for coxsackie B virus IgM at entry were 24.4% for patients and 22.6% for controls and for coxsackie B virus IgG 56.2% and 55.3% respectively; there were no significant differences between different categories of patients according to clinical likelihood of the syndrome nor any predictive value in a fourfold rise or fall in the coxsackie B virus IgG titre in patients between entry and review at six months. The rates of positive antibody test results in patients and controls showed a strong seasonal variation. Of the numerous immunological tests performed, only a few detected significant abnormalities; in particular the mean value for immune complex concentration was much higher in 35 patients and 35 controls compared with the normal range and mean value for total IgM was also raised in 227 patients and 35 controls compared with the normal range. CONCLUSIONS--Serological tests available for detecting coxsackie B virus antibodies do not help diagnose the postviral fatigue syndrome. Percentage positive rates of the antibodies in patients simply reflect the background in the population as probably do the raised concentrations of total IgM and immune complexes. PMID:1847316

  12. Cochlear Implants in Children Diagnosed with CHARGE Syndrome

    PubMed Central

    Cardoso, Carolina Costa; Sales de Meneses, Michelle; Silva, Isabella Monteiro de Castro; Alves, Angela Maria Vaccaro Silva

    2013-01-01

    Introduction The CHARGE association (coloboma of the eyes; heart disease; atresia of the choanae; retarded growth and development; genital hypoplasia/genitourinary anomalies; ear anomalies and/or hearing loss) was first described in 1979 by Hall, and among its main features is hearing loss. This study presents a case aiming to establish relationships between performance on Infant Toddler Meaningful Auditory Integration Scale (IT-MAIS) and Meaningful Use of Speech Scales (MUSS) tests and the analysis of hearing and language categories of a patient diagnosed with CHARGE syndrome, before and after cochlear implant (CI) surgery. Case Report A 7-year-old girl was diagnosed with CHARGE. She had severe sensorineural hearing loss and was a prelingual unilateral CI user. We analyzed data from the patient's medical records regarding therapies and video recordings. Results The patient showed positive results in all evaluations after CI. IT-MAIS rose from 5 to 90% following the use of CI. MUSS also rose, from 75 to 72.5%, after use of CI. Classification of Auditory Skills changed from category 1 before use of CI to category 6 after use of CI. Classification of Language Skills changed from category 1 before use of CI to category 3 after use of CI. The CI is an aid but there are many factors in the therapeutic process, and great heterogeneity in individuals diagnosed with CHARGE should be investigated. Conclusion The development of listening and language skills after CI use was demonstrated by IT-MAIS and MUSS tests, and categorization of speech and hearing in this child with a diagnosis of CHARGE syndrome shows that CI can be an effective technological resource to provide information on hearing as one source for language construction. PMID:25992052

  13. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.

    PubMed

    Becker, S; Rhnike, S; Empting, S; Haas, D; Mohnike, K; Beblo, S; Mtze, U; Husain, R A; Thiery, J; Ceglarek, U

    2015-07-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is characterised by accumulation of 7- and 8-dehydrocholesterol and by reduced cholesterol concentrations in all tissues and body fluids. With this study, we developed a new, rapid, robust and high-throughput tandem mass spectrometric method as routine application for the selective SLOS screening and therapy monitoring in serum and dried blood. After protein precipitation of 10 ?L serum or 4.7 mm dried blood spot, the sum of 7- and 8-dehydrocholesterol (DHC) was analysed by rapid chromatography combined with tandem mass spectrometry. Method comparison with GC-MS was performed for 46 serum samples. A comparison between serum and corresponding dried blood spots for DHC and cholesterol was performed with 40 samples from SLOS patients. Concentrations of DHC and cholesterol were analysed in 2 dried blood samples from newborns with SLOS and 100 unaffected newborns. Intra- and inter-assay variabilities ranged between 3.7 and 17.7% for serum and dried blood spots. Significant correlations between the new LC-MS/MS method and GC-MS were determined for DHC (r?=?0.937, p?diagnosed with SLOS from normal newborns in a retrospective analysis after 5 years. The developed method enables a rapid quantification of the sum parameter 7- and 8-DHC in newborns and SLOS patients under therapy in serum as well as dried blood spot samples. PMID:25963649

  14. 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.

  15. 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

  16. 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)

  17. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  18. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  19. [Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].

    PubMed

    Alvarado Socarras, Jorge Luis; Laverde Amaya, Diana Carolina; Prada, Carlos; García Carrillo, Johan

    2015-10-01

    We report a male infant with midline defects, congenital heart disease and polydactyly, features suggestive of trisomy 13. However, the report of the karyotype was normal. By clinical findings the final diagnosis was likely to be Pseudotrisomy 13. Although the prognosis is poor in both conditions, the genetic study is always necessary to establish an adequate genetic counseling. Although there are syndromes with similar presentation as Meckel syndrome, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome and hydrolethalus, it is possible to make a diagnostic approach based on the perinatal history, birth weight, survival time, and some characteristics of each syndrome. However, limitations may exist to perform genetic studies in some countries, therefore the clinical criteria may be relevant. PMID:26294165

  20. 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 ...

  1. 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, Barıs; 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

  2. 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, Barıs; 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

  3. 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:…

  4. 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…

  5. Incidentally diagnosed post-cesarean vesicouterine fistula (Youssef’s syndrome)

    PubMed Central

    Keskin, Mehmet Zeynel; Budak, Salih; Can, Ertan; İlbey, Yusuf Özlem

    2015-01-01

    Vesicouterine fistula (VUF) is a very rare occurrence and is estimated to occur in only 1–4% of all genitourinary fistulas; 90% of cases are Youssef syndrome, which is accompanied by amenorrhea and cyclic hematuria (menouria). In this article, a renal transplant donor who was incidentally diagnosed with Youssef syndrome 20 years after a second cesarean delivery. PMID:26834907

  6. 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

  7. Babinski-Nageotte Syndrome Diagnosed in Postpartum Period

    PubMed Central

    Oruç, Serdar; Demirbaş, Hayri; Güzel, Abdullah; Beker Acay, Mehtap; Yaman, Mehmet

    2016-01-01

    Babinski-Nageotte Syndrome (BNS) is one of the brainstem syndromes characterized by muscle weakness in the opposite half of the body with classic Wallenberg findings. According to our literature survey, only a few cases have been reported and none of them was in the postpartum period. We report a case of a typical BNS in a postpartum woman with an ischemic lesion in the medulla oblongata shown on magnetic resonance imaging. PMID:26989533

  8. 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…

  9. 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…

  10. 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

  11. The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.

    PubMed

    Benacerraf, Beryl B

    2012-03-01

    Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis. PMID:22343241

  12. 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

  13. The effects of 7-dehydrocholesterol on the structural properties of membranes

    NASA Astrophysics Data System (ADS)

    Liu, Yingzhe; Chipot, Christophe; Shao, Xueguang; Cai, Wensheng

    2011-10-01

    Smith-Lemli-Opitz syndrome, a congenital and developmental malformation disease, is typified by abnormal accumulation of 7-dehydrocholesterol (7DHC), the immediate precursor of cholesterol (CHOL), and depletion thereof. Knowledge of the effect of 7DHC on the biological membrane is, however, still fragmentary. In this study, large-scale atomistic molecular dynamics simulations, employing two distinct force fields, have been conducted to elucidate differences in the structural properties of a hydrated dimyristoylphosphatidylcholine bilayer due to CHOL and 7DHC. The present series of results indicate that CHOL and 7DHC possess virtually the same ability to condense and order membranes. Furthermore, the condensing and ordering effects are shown to be strengthened at increasing sterol concentrations.

  14. The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts.

    PubMed

    Korade, Zeljka; Kim, Hye-Young H; Tallman, Keri A; Liu, Wei; Koczok, Katalin; Balogh, Istvan; Xu, Libin; Mirnics, Karoly; Porter, Ned A

    2016-02-11

    Well-established cell culture models were combined with new analytical methods to assess the effects of small molecules on the cholesterol biosynthesis pathway. The analytical protocol, which is based on sterol derivation with the dienolphile PTAD, was found to be reliable for the analysis of 7-DHC and desmosterol. The PTAD method was applied to the screening of a small library of pharmacologically active substances, and the effect of compounds on the cholesterol pathway was determined. Of some 727 compounds, over 30 compounds decreased 7-DHC in Dhcr7-deficient Neuro2a cells. The examination of chemical structures of active molecules in the screen grouped the compounds into distinct categories. In addition to statins, our screen found that SERMs, antifungals, and several antipsychotic medications reduced levels of 7-DHC. The activities of selected compounds were verified in human fibroblasts derived from Smith-Lemli-Opitz syndrome (SLOS) patients and linked to specific transformations in the cholesterol biosynthesis pathway. PMID:26789657

  15. Lipid rafts, cholesterol, and the brain

    PubMed Central

    Korade, Zeljka; Kenworthy, Anne K.

    2008-01-01

    Summary Lipid rafts are specialized membrane microdomains that serve as organizing centers for assembly of signaling molecules, influence membrane fluidity and trafficking of membrane proteins, and regulate different cellular processes such as neurotransmission and receptor trafficking. In this article, we provide an overview of current methods for studying lipid rafts and models for how lipid rafts might form and function. Next, we propose a potential mechanism for regulating lipid rafts in the brain via local control of cholesterol biosynthesis by neurotrophins and their receptors. Finally, we discuss evidence that altered cholesterol metabolism and/or lipid rafts play a critical role in the pathophysiology of multiple CNS disorders, including Smith-Lemli-Opitz syndrome, Huntington, Alzheimer's, and Niemman-Pick Type C diseases. PMID:18402986

  16. Getting Diagnosed

    MedlinePlus

    ... also for those with related disorders. How is Marfan syndrome diagnosed? getting_diagnosed.jpg A Marfan diagnosis can ... spinal column). Is there a genetic test for Marfan syndrome? Genetic testing can provide helpful information in some ...

  17. Normal for an Asperger: notions of the meanings of diagnoses among adults with Asperger syndrome.

    PubMed

    Bertilsdotter Rosqvist, Hanna

    2012-04-01

    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 with Asperger syndrome. The notion of diagnosis comprises issues concerning coming out and knowledge production. The findings capture an ongoing reformulation process among people involved in the autistic self-advocacy movement when it comes to the meanings of Asperger syndrome and what it means to be a person with Asperger syndrome. PMID:22642966

  18. Infectious Shock and Toxic Shock Syndrome Diagnoses in Hospitals, Colorado, USA

    PubMed Central

    Smit, Michael A.; Nyquist, Ann-Christine

    2013-01-01

    In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993–2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10–49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both sexes. PMID:24188357

  19. 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)

  20. [Nursing role in patient management diagnosed chronic fatigue syndrome].

    PubMed

    Alvarez, Carballo; Royes, Badía; Lalinde, Sevillano; Vidal, Llinas; Martín, Alegre

    2010-12-01

    Chronic fatigue syndrome is a serious, complex and debilitating fatigue characterized by intense physical and mental, that does not subside significantly after rest and worsens with activity The appearance of the disease requires the patient to reduce the activity diminished their quality of life. While there is no cure, the complexity of the disease requires an interdisciplinary approach where the mission of nursing is to identify the least healthy responses of each individual in relation to their health status and interfering with them by means of specific support, integrated support and follow a care plan tailored to the individual needs of each individual. Fatigue, pain, sleep pattern disturbance, anxiety and lack of knowledge are the most prevalent health problems in patients treated at the Chronic Fatigue Unit, University Hospital Vail d'Hebron. Thus, in these problems and by developing a customized care plan process we use for health education as a tool for influencing the control of symptoms through interventions to improve the learning support, emotional support and Accompanying with the aim of helping the patient and their relatives are an adaptive response to their new health status and thus improve the quality of life. PMID:21322185

  1. 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…

  2. Does metabolic syndrome or its components associate with prostate cancer when diagnosed on biopsy?

    PubMed Central

    Sarici, Hasmet; Ekici, Musa; Ozgur, Berat Cem; Doluoglu, Omer Gokhan; Eroglu, Muzaffer; Telli, Tugba Akin

    2015-01-01

    Purpose: To investigate the association between metabolic syndrome and prostate cancer risk in Turkish men. Methods: We examined data from 220 patients with prostate cancer and 234 men in a control group with benign biopsy results, who had a serum prostate-specific antigen (PSA) level ⩾ 4 ng/ml, or an abnormal digital rectal examination finding and who underwent transrectal ultrasound-guided prostate biopsy at two main training and research hospitals between February 2009 and April 2013. Metabolic syndrome was diagnosed according to The Society of Endocrinology and Metabolism of Turkey metabolic-syndrome criteria. Age, total PSA, waist circumference, body mass index, lipid profiles, fasting blood sugar level, blood pressure level and metabolic syndrome were considered for analysis. Results: A total of 454 patients were enrolled: 85 cases in group 1 (38.6% of 220 prostate cancer cases) and 104 control subjects in group 2 (40.4% of 234 controls) were diagnosed with metabolic syndrome. Higher ages and lower high-density lipoprotein-cholesterol were two parameters that were significant only in the prostate cancer group with metabolic syndrome. There was no significant predictor factor for prostate cancer alone; however, higher triglycerides (odds ratio [OR], 1.286; 95% confidence interval [CI] 1.09–1.82 and 1.142; 95% CI 1.06–1.62) and fasting glucose levels (OR, 1.222; 95% CI 1.08–1.61 and 1.024; 95% CI 1.07–1.82) were significant predictors in both the prostate cancer group and control group. Conclusions: We found little evidence to support the hypothesis that increased incidence of metabolic syndrome (or its components) contributes to increased incidence of prostate cancer. A larger, prospective, multicentre investigation is mandatory to confirm if there is any relationship between metabolic syndrome and prostate cancer. PMID:25755679

  3. Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.

    PubMed

    Choi, Hye-Jin; Lee, Mi-Woo; Choi, Jee-Ho; Moon, Kee-Chan; Koh, Jai-Kyoung

    2005-01-01

    The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. Novel identification of the mutation in VPS33B in this syndrome, which involves intracellular protein trafficking by regulation of vesicle-to-target sensory nerve action potential receptor (SNARE) family, might explain the consistent combination of membrane fusion defects. We can guess the defective lamellar body secretion mediated by the soluble N-ethylmaleimide-sensitive factor attachment protein receptor or SNARE protein pathway in the epidermis might result in the ichthyosiform phenotype. In the English-language literature, half of the reported instances of this syndrome are associated with ichthyosis. We report an infant with ichthyosis in association with arthrogryposis, renal tubular dysfunction, and cholestasis syndrome, and review the literature. Our findings suggest that the differential diagnosis of ichthyosis during infancy should include this syndrome. PMID:16354257

  4. A Metabolomics Approach to Stratify Patients Diagnosed with Diabetes Mellitus into Excess or Deficiency Syndromes

    PubMed Central

    Wu, Tao; Yang, Ming; Liu, Tao

    2015-01-01

    The prevalence of type 2 diabetes continuously increases globally. The traditional Chinese medicine (TCM) can stratify the diabetic patients based on their different TCM syndromes and, thus, allow a personalized treatment. Metabolomics is able to provide metabolite biomarkers for disease subtypes. In this study, we applied a metabolomics approach using an ultraperformance liquid chromatography (UPLC) coupled with quadruple-time-of-flight (QTOF) mass spectrometry system to characterize the metabolic alterations of different TCM syndromes including excess and deficiency in patients diagnosed with diabetes mellitus (DM). We obtained a snapshot of the distinct metabolic changes of DM patients with different TCM syndromes. DM patients with excess syndrome have higher serum 2-indolecarboxylic acid, hypotaurine, pipecolic acid, and progesterone in comparison to those patients with deficiency syndrome. The excess patients have more oxidative stress as demonstrated by unique metabolite signatures than the deficiency subjects. The results provide an improved understanding of the systemic alteration of metabolites in different syndromes of DM. The identified serum metabolites may be of clinical relevance for subtyping of diabetic patients, leading to a personalized DM treatment. PMID:25667595

  5. 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

  6. Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome

    PubMed Central

    Sawicka, Nadia; Gryczyńska, Maria; Sowiński, Jerzy; Tamborska-Zedlewska, Monika; Ruchała, Marek

    2013-01-01

    Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing’s syndrome. Here we report a patient diagnosed with anorexia nervosa who also developed Cushing’s syndrome. A 26-year-old female had been treated for anorexia nervosa since she was 17 years old, and also developed depression and paranoid schizophrenia. She was admitted to the Department of Endocrinology, Metabolism, and Internal Medicine with a preliminary diagnosis of Cushing’s syndrome. Computed tomography revealed a 27 mm left adrenal tumor, and she underwent laparoscopic adrenalectomy. She was admitted to hospital 6 months after this procedure, at which time she did not report any eating or mood disorder. This is a rare case report of a patient with anorexia nervosa in whom Cushing’s syndrome was subsequently diagnosed. Diagnostic difficulties were caused by the signs and symptoms presenting in the course of both disorders, ie, hypercortisolemia, osteoporosis, secondary amenorrhea, striae, hypokalemia, muscle weakness, and depression. PMID:23579693

  7. Two diagnoses become one? Rare case report of anorexia nervosa and Cushing's syndrome.

    PubMed

    Sawicka, Nadia; Gryczyńska, Maria; Sowiński, Jerzy; Tamborska-Zedlewska, Monika; Ruchała, Marek

    2013-01-01

    Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing's syndrome. Here we report a patient diagnosed with anorexia nervosa who also developed Cushing's syndrome. A 26-year-old female had been treated for anorexia nervosa since she was 17 years old, and also developed depression and paranoid schizophrenia. She was admitted to the Department of Endocrinology, Metabolism, and Internal Medicine with a preliminary diagnosis of Cushing's syndrome. Computed tomography revealed a 27 mm left adrenal tumor, and she underwent laparoscopic adrenalectomy. She was admitted to hospital 6 months after this procedure, at which time she did not report any eating or mood disorder. This is a rare case report of a patient with anorexia nervosa in whom Cushing's syndrome was subsequently diagnosed. Diagnostic difficulties were caused by the signs and symptoms presenting in the course of both disorders, ie, hypercortisolemia, osteoporosis, secondary amenorrhea, striae, hypokalemia, muscle weakness, and depression. PMID:23579693

  8. Long-term results of children diagnosed with idiopathic nephrotic syndrome; single center experience

    PubMed Central

    Hacıhamdioğlu, Duygu Övünç; Kalman, Süleyman; Gök, Faysal

    2015-01-01

    Aim: The aim of this study was to determine the long-term results of children followed up with a diagnosis of nephrotic syndrome in a single center. Materials and Method: The medical data of 33 patients aged between 6 months and 10 years who were diagnosed with idiopathic nephrotic syndrome in our center between January 2000 and December 2012 and followed up for a period of 2–12 years were reviewed (Gulhane Military Medical Academy Ethics committee, 07.11.2012/10). Results: The mean age of disease onset was 3.2±2.04 years (range: 0.5–10 years) and the mean follow-up period was 6±3.4 years (range: 2–12 years). Thirteen (39.4%) of the study group (or the patients) were female and 20 (60.6%) were male. Twenty seven (1.8%) of the patients were sensitive to steroid and 6 (18.1%) were resistant to steroid. Four (12.1%) of the steroid-resistant patients had steroid-dependent nephrotic syndrome, 5 (15.2%) had frequently relapsing nephrotic syndrome and 18 (54.5%) had rarely relapsing nephrotic syndrome. Histopathological diagnoses of six patients who underwent biopsy because of resistance to steroid were as follows: focal segmental glomerulosclerosis (n=3), C1q nephropathy (n=1), diffuse mesangial proliferation (n=1) and membraneous nephropathy (n=1). Fifteen (45.5%) patients entered into full remission and 2 (6%) patients developed chronic renal failure. Treatment complications including decreased bone mineral density in three patients (9%), short stature in 2 patients (6%) and cataract in 2 patients (6%) developed. Conclusions: Children with nephrotic syndrome carry a risk in terms of short stature, osteoporosis, cataract and renal failure in the long-term follow-up. It was observed that our rates of response to steroid were similar to the literature and the most common histopathological diagnosis was focal segmental glomerulosclerosis in our patients who underwent biopsy because of resistance to steroid. It was thought that multi-center studies should be conducted to demonstrate regional or national differences related with long-term results of childhood nephrotic syndrome. PMID:26078695

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

    PubMed

    Włoch, Agata; Borowski, Dariusz; Czuba, Bartosz; Włoch, Stanisław; 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

  10. 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

  11. Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

    PubMed Central

    Esteves, Kristyn M.; Towne, Meghan C.; Brownstein, Catherine A.; James, Philip M.; Crowley, Laura; Hirschhorn, Joel N.; Elsea, Sarah H.; Beggs, Alan H.; Picker, Jonathan

    2015-01-01

    Context: The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. Objective: To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing. Results: We identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome. Conclusions: This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity. PMID:25781356

  12. 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

  13. 5q- syndrome and multiple myeloma diagnosed simultaneously and successful treated with lenalidomide.

    PubMed

    Ortega, Margarita; Mallo, Mar; Solé, Francesc; Sánchez-Morata, Carmen; López-Andreoni, Laura; Martínez-Morgado, Noemí; Gironella, Mercedes; Valcárcel, David; Vallespí, Teresa

    2013-10-01

    A 72-year-old woman was diagnosed with 5q- myelodysplastic syndrome in the course of an indolent multiple myeloma (MM). Bone marrow (BM) cytogenetics disclosed two unrelated clones: 46,XX,del(5)(q13q33), and [47,X,-X,der(1;21)(q10;q10),-4,-4,+5,del(5)(q13q31),+7,der(7)t(1;7)(p34.2;p22),add(8)(p23),-13,+15,der(16) t(1;16)(q23;q12.2),+19,-21,+mar1,+mar2]. The last complex karyotype belonged to malignant plasma cells. FISH and SKY techniques demonstrated different 5q deletions. EGR1 gene (on 5q31) lost in 5q- syndrome remained in 5q- plasma cells. Biclonal evolution was noted: myeloid 5q- cells added a deletion 13q and plasma cells showed monosomy 13. Patient achieved complete cytogenetic response of 5q- syndrome with low-dose of lenalidomide, and a partial remission of MM with high-dose of lenalidomide/dexamethasone combination. PMID:23891188

  14. Thrombotic microangiopathy complicating newly diagnosed Sjögren's syndrome in a dialysis patient.

    PubMed

    Cheng, Mei-Hua; Lin, Jui-Hsiang; Yen, Tzung-Hai; Wang, Han-Ting; Chen, Men-Chen; Huang, Hsiao-Ling; Chih, Hsin-Ping; Wang, Wei-Jie

    2014-08-01

    Thrombotic microangiopathy (TMA) is rarely associated with Sjögren's syndrome (SS). This is the first documented case of a patient undergoing chronic hemodialysis with SS who developed TMA. TMA is an infrequent, life-threatening multisystem disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia, accompanied by microvascular thrombosis that causes variable degrees of tissue ischemia and infarction. It is important to make a quick diagnosis of TMA to cure the reported case as early as possible. The patients with TMA should be diagnosed quickly, and in this case plasma exchange and corticosteroids in combination with cyclophosphamide have been associated with a recurrence free period. Cyclophosphamide has led to the development of treatment protocols using alternative immunosuppressive agents in patients with SS showing a poor response to plasmapheresis and potentially life-threatening manifestations. Further research is required to ascertain the sensitivity, specificity, efficacy, timing, cost-benefit ratio, and necessity of cyclophosphamide in the setting of TMA complicating SS. PMID:24828887

  15. 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

  16. Susac's Syndrome in a Patient Diagnosed with MS for 20 Years: A Case Report

    PubMed Central

    Zeynep Batur Caglayan, Hale; Yildirim-Capraz, Irem

    2014-01-01

    Susac's syndrome is an uncommon neurologic disorder of unknown cause. It has been described as a clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Clinically the diagnosis is difficult when the patient presents only a portion of a triad. We present a case with vision loss and sensorineural deafness and who had been diagnosed with MS for 20 years. Susac's syndrome is presumed to be an autoimmune endotheliopathy. Neurologic symptoms and signs are diffuse and multifocal, acute or subacute in onset, and progress during the active phase of the disease. In some patients the onset was stroke like and in others that of subacute dementia. Headache, often with migrainous features, was a prominent feature initially in more than one half of the patients. A high index of suspicion leading to correct diagnosis and early appropriate therapy may reduce the permanent sequel seen with this disease. Misdiagnosis is common. In patients in whom diagnosis and treatment are delayed permanent morbidity is higher in terms of visual loss, hearing loss, and neurologic debility. In patients in whom rapid diagnosis has led to early administration of immunosuppressive therapy, recovery can be almost complete. PMID:24716016

  17. Associations between operationally estimated blast exposures and postdeployment diagnoses of postconcussion syndrome and posttraumatic stress disorder.

    PubMed

    Saxe, Johnathan L; Perdue, Christopher L

    2015-01-01

    Traumatic brain injuries and other blast-related injuries have been identified as the signature injury of the wars in Iraq and Afghanistan. Some operational units in Iraq, especially those responsible for clearing roadways, were exposed to hundreds of blast incidents and thousands of individual doses of concussive energy during their lengthy deployments. Using operational records maintained by a single command element, the researchers conducted a retrospective cohort study evaluating the association between estimated individual exposures to blasts and the risk for postconcussion syndrome (PCS) and posttraumatic stress disorder (PTSD). Tactical records documented all of the relevant details of the subjects' exposures to blasts during their missions. During the study period there were 313 blasts involving 418 service members resulting in 4,250 blast person events. Of that population, 12.9% were diagnosed with PCS, 8.6% with PTSD, and 5.3% with both. This study suggests that estimating the total individual dosage to concussive forces through physical evidence at the scene could be a useful predictor of future brain-disorder diagnoses. Those in vehicles sustaining heavy blast damage are at increased risk of being diagnosed with PTSD with a rate ratio of 2.79 (95% CI, 1.27-6.13) and PTSD in conjunction with PCS with a rate ratio of 4.10 (95% CI, 1.63-10.28). Standardization of the data collection method for blast incidents and additional follow-up studies could lead to the development of better ways of monitoring operational risk factors for negative health outcomes, plans to intervene in order to minimize health risks, and establish customized follow-up protocols based on specific dosage thresholds. PMID:25651149

  18. 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…

  19. 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…

  20. Social perception and WAIS-IV Performance in adolescents and adults diagnosed with Asperger's Syndrome and Autism.

    PubMed

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-06-01

    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 Edition (WAIS-IV) and the Social Perception subtest from the Advanced Clinical Solutions. Deficits in social perception, verbal comprehension, and processing speed were found in the Autism sample. Additionally, they exhibited inconsistent performance on auditory working memory and perceptual reasoning tasks. The Asperger's syndrome group had better overall cognitive skills than the Autism group, but compared with controls, they had weaknesses in processing speed, social perception, and components of auditory working memory. Both groups had relatively low scores on the WAIS-IV Comprehension subtest compared with the other verbal comprehension subtests. Clinical application and utility of the WAIS-IV and Social Perception in Autism Spectrum Disorders are discussed. PMID:21220381

  1. 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 Szilrd 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 Szilrd 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

  2. 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

  3. Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers

    PubMed Central

    Egoavil, Cecilia; Alenda, Cristina; Castillejo, Adela; Paya, Artemio; Peiro, Gloria; Sánchez-Heras, Ana-Beatriz; Castillejo, Maria-Isabel; Rojas, Estefanía; Barberá, Víctor-Manuel; Cigüenza, Sonia; Lopez, Jose-Antonio; Piñero, Oscar; Román, Maria-Jose; Martínez-Escoriza, Juan-Carlos; Guarinos, Carla; Perez-Carbonell, Lucia; Aranda, Francisco-Ignacio; Soto, Jose-Luis

    2013-01-01

    Background Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population. Methods Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed. Results One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. Conclusion The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended. PMID:24244552

  4. The complexity of diagnosing postural orthostatic tachycardia syndrome: influence of the diurnal variability.

    PubMed

    Moon, Jangsup; Lee, Han Sang; Byun, Jung-Ick; Sunwoo, Jun-Sang; Shin, Jung-Won; Lim, Jung-Ah; Kim, Tae-Joon; Shin, Yong-Won; Lee, Keon-Joo; Jeon, Daejong; Jung, Keun-Hwa; Lee, Soon-Tae; Jung, Ki-Young; Chu, Kon; Lee, Sang Kun

    2016-03-01

    We investigated how the diagnosis of postural orthostatic tachycardia syndrome (POTS) would be changed due to diurnal variability in orthostatic tachycardia. The orthostatic vital sign test was administered to each patient twice, in the afternoon of the day of admission and the next morning (n = 113). Forty-six patients were diagnosed with POTS, and the remaining 67 patients were assigned to non-POTS group. Heart rate increments after standing were larger in the morning than in the afternoon in every group (all P < .001). Among the POTS patients, 82.6% fulfilled the diagnostic criteria for POTS in the morning and 52.2% in the afternoon. Most POTS group (65.2%) displayed normal result on single orthostatic vital sign test. Orthostatic intolerance symptoms were provoked in only 45.7% of the POTS patients, more frequently in the morning. In conclusion, diurnal variability in hemodynamic parameters and provoked symptoms significantly challenged the diagnosis of POTS. PMID:26857333

  5. Value of high-frequency ultrasound in diagnosing carpal tunnel syndrome

    PubMed Central

    Lu, Yuji; Meng, Zengdong; Pan, Xuekun; Qin, Libo; Wang, Gang

    2015-01-01

    This study aimed to evaluate the diagnostic value of high-frequency ultrasound examination for carpal tunnel syndrome (CTS). A total of 63 wrists from 45 patients diagnosed with CTS were selected as the study group, and 43 asymptomatic wrists of 40 cases were included as the normal control group. Parameters such as the transverse diameter, vertical diameter, cross-sectional area (CSA), and flattening rate (FR) of the carpal tunnel radioulnar joint, postular bone, and median nerve in the hamate bone hook plane were measured, and the differences between the two groups were compared. The median nerve CSA in the postular bone plate was significantly greater in the study group than in the normal control group (0.170.05 vs. 0.090.02, P<0.01), and the FR at the hook of the hamate was significantly higher in the study group (3.520.86 vs. 3.210.26, P<0.01). Our results suggest that ultrasonography can effectively provide dynamic real-time images of the wrist in addition to being painless, non-invasive, and associated with relatively low costs. Based on our findings, we believe that ultrasonography is an effective examination method for CTS. When the threshold of the median nerve CSA in the postular bone plate was set as 10 mm2, the diagnostic sensitivity and specificity were 92% and 86%, respectively. Therefore, the median nerve CSA may represent a good clinical indicator of CTS. PMID:26885222

  6. Grey-scale sonography and sonoelastography for diagnosing carpal tunnel syndrome

    PubMed Central

    Miyamoto, Hideaki; Morizaki, Yutaka; Kashiyama, Takahiro; Tanaka, Sakae

    2016-01-01

    Carpal tunnel syndrome (CTS) is a common peripheral entrapment neuropathy of the median nerve at wrist level, and is thought to be caused by compression of the median nerve in the carpal tunnel. There is no standard quantitative reference for the diagnosis of CTS. Grey-scale sonography and sonoelastography (SEL) have been used as diagnostic tools. The most commonly agreed findings in grey-scale sonography for the diagnosis of CTS is enlargement of the median nerve cross-sectional area (CSA). Several authors have assessed additional parameters. “Delta CSA” is the difference between the proximal median nerve CSA at the pronator quadratus and the maximal CSA within the carpal tunnel. The “CSA ratio” is the ratio of CSA in the carpal tunnel to the CSA at the mid forearm. These additional parameters showed better diagnostic accuracy than CSA measurement alone. Recently, a number of studies have investigated the elasticity of the median nerve using SEL, and have shown that this also has diagnostic value, as it was significantly stiffer in CTS patients compared to healthy volunteers. In this review, we summarize the usefulness of grey-scale sonography and SEL in diagnosing CTS. PMID:27027498

  7. Grey-scale sonography and sonoelastography for diagnosing carpal tunnel syndrome.

    PubMed

    Miyamoto, Hideaki; Morizaki, Yutaka; Kashiyama, Takahiro; Tanaka, Sakae

    2016-03-28

    Carpal tunnel syndrome (CTS) is a common peripheral entrapment neuropathy of the median nerve at wrist level, and is thought to be caused by compression of the median nerve in the carpal tunnel. There is no standard quantitative reference for the diagnosis of CTS. Grey-scale sonography and sonoelastography (SEL) have been used as diagnostic tools. The most commonly agreed findings in grey-scale sonography for the diagnosis of CTS is enlargement of the median nerve cross-sectional area (CSA). Several authors have assessed additional parameters. "Delta CSA" is the difference between the proximal median nerve CSA at the pronator quadratus and the maximal CSA within the carpal tunnel. The "CSA ratio" is the ratio of CSA in the carpal tunnel to the CSA at the mid forearm. These additional parameters showed better diagnostic accuracy than CSA measurement alone. Recently, a number of studies have investigated the elasticity of the median nerve using SEL, and have shown that this also has diagnostic value, as it was significantly stiffer in CTS patients compared to healthy volunteers. In this review, we summarize the usefulness of grey-scale sonography and SEL in diagnosing CTS. PMID:27027498

  8. 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

  9. Using the Amplitude of Pulse-Synchronous Intramuscular Pressure Oscillations When Diagnosing Chronic Anterior Compartment Syndrome

    PubMed Central

    Nilsson, Andreas; Zhang, Qiuxia; Styf, Jorma

    2014-01-01

    Background: To diagnose chronic anterior compartment syndrome (CACS) among patients with exercise-induced leg pain, intramuscular pressure (IMP) is regarded as the gold standard. Two recent studies have suggested that the evidence for commonly used IMP criteria are weak, and the validity has therefore come under question. Purpose: To evaluate whether the amplitude of pulse-synchronous IMP oscillations at rest after an exercise test is a reliable parameter that may aid in diagnosing CACS. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: A total of 89 consecutive patients with suspected CACS (mean age, 31 years) and 19 healthy subjects (mean age, 28 years) participated in this study. All participants performed an exercise test until they were unable to continue because of leg pain and/or muscle fatigue. The IMP was recorded continuously in the anterior compartment of the leg with a noninfusion pressure recording system, starting 15 to 30 seconds after discontinuation of exercise. To test the amplitude of pulse-synchronous IMP oscillations as an indicator of CACS, a peak-to-peak amplitude of >2 mm Hg was chosen as the cutoff value. The clinical diagnosis of CACS was considered reference standard. Results: The mean ± SD IMP 1 minute after exercise was 54 ± 16 mm Hg in 53 patients with CACS, 17 ± 6 mm Hg in 36 non-CACS patients, and 18 ± 5 mm Hg in control subjects. The mean amplitude of the oscillations was 7.1 ± 3 mm Hg in patients with CACS, 1.3 ± 0.9 mm Hg in non-CACS patients, and 1.5 ± 0.6 mm Hg in control subjects 1 minute after exercise. The sensitivity of the amplitude to validate CACS was 96%, while the specificity was 94%. The positive predictive value was 96%, and the negative predictive value was 94%. Conclusion: The amplitude of the pulse-synchronous IMP oscillations at rest after an exercise test that elicits a patient’s leg pain and muscle fatigue has high sensitivity to identify an abnormally elevated IMP. Clinical Relevance: Oscillations are easily recorded during clinical routine IMP measurements. They ascertain the diagnosis of CACS, corroborate the level of IMP, and ensure catheter patency. PMID:26535284

  10. Time trend in depression diagnoses among acute coronary syndrome patients and a reference population from 2001 to 2009 in Denmark.

    PubMed

    Jørgensen, Terese Sara Høj; Mårtensson, Solvej; Ibfelt, Else Helene; Jørgensen, Martin Balslev; Wium-Andersen, Ida Kim; Wium-Andersen, Marie Kim; Prescott, Eva; Osler, Merete

    2016-07-01

    Introduction In the last decade a range of recommendations to increase awareness of depression in acute coronary syndrome patients have been published. To test the impact of those recommendations we examine and compare recent time trends in depression among acute coronary syndrome patients and a reference population. Methods 87 218 patients registered with acute coronary syndrome from 2001-2009 in Denmark and a match reference population were followed through hospital registries and medication prescriptions for early (≤30 days), intermediate (31 days to 6 months) and later (6 months to 2 years) depression in the acute coronary syndrome population and overall depression in the reference population. Cox regression models were used to compare hazard ratios (HRs) for depression over calendar years. Results During the study period, 11.0% and 6.2% were diagnosed with depression in the acute coronary syndrome population and in the reference population, respectively. For the acute coronary syndrome population, the adjusted HRs increased for early (HR (95% CI) 1.04 (1.01-1.06)) and intermediate depression (HR (95% CI) 1.01 (1.00-1.03)), whereas the adjusted HRs did not change for later depression (HR (95% CI) 0.99 (0.98-1.00)). For the reference population the adjusted HRs for depression increased through the study period (HR (95% CI) 1.01 (1.01-1.03)). Conclusion Increase in diagnoses of depressions within 6 months of acute coronary syndrome may be explained by increased focus on depression in this patient group in combination with increased awareness of depression in the general population. PMID:26750515

  11. Difficulties diagnosing psychiatric paraneoplastic syndromes in patients with a psychiatric history: a patient with secondary mania and renal cell carcinoma

    PubMed Central

    Gaston, Romina Lopez; Constantine, Lenia

    2009-01-01

    Renal cell carcinoma (RCC) is characterised by lack of early warning signs. The classic triad (palpable mass, haematuria and flank pain) occurs in less than 15% of cases and paraneoplastic syndromes develop in 10–40%, often preceding the detection of the neoplasm. This report describes a 51-year-old woman who displayed manic symptomatology and was investigated due to anaemia. RCC was diagnosed and her psychiatric symptomatology remitted after the nephrectomy. PMID:21686959

  12. Atypical hemolytic uremic syndrome diagnosed four years after ABO-incompatible kidney transplantation.

    PubMed

    Kawaguchi, Keiko; Kawanishi, Kunio; Sato, Masayo; Itabashi, Mitsuyo; Fujii, Akiko; Kanetsuna, Yukiko; Huchinoue, Shouhei; Ohashi, Ryuji; Koike, Junki; Honda, Kazuho; Nagashima, Yoji; Nitta, Kosaku

    2015-07-01

    Atypical hemolytic uremic syndrome (aHUS) in allograft kidney transplantation is caused by various factors including rejection, infection, and immunosuppressive drugs. We present a case of a 32 year old woman with aHUS four years after an ABO-incompatible kidney transplantation from a living relative. The primary cause of end-stage renal disease was unknown; however, IgA nephropathy (IgAN) was suspected from her clinical course. She underwent pre-emptive kidney transplantation from her 60 year old mother. The allograft preserved good renal function [serum creatinine (sCr) level 110-130 μmol/L] until a sudden attack of abdominal pain four years after transplant, with acute renal failure (sCr level, 385.3 μmol/L), decreasing platelet count, and hemolytic anemia with schizocytes. On allograft biopsy, there was thrombotic microangiopathy in the glomeruli, with a cellular crescent formation and mesangial IgA and C3 deposition. Microvascular inflammation, such as glomerulitis, peritubular capillaritis, and arteriole endarteritis were also detected. A disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) did not decrease and Shiga toxin was not detected. Donor-specific antibodies or autoantibodies, including anti-neutrophil cytoplasmic antibody and anti-glomerular basement membrane (anti-GBM) antibody, were negative. The patient was diagnosed with aHUS and received three sessions of plasmapheresis and methylprednisolone pulse therapy, followed by oral methylprednisolone (0.25-0.5 mg/kg) instead of tacrolimus. She temporarily required hemodialysis (sCr level, 658.3 μmol/L). Thereafter, her sCr level improved to 284.5 μmol/L without dialysis therapy. This case is clinically considered as aHUS after kidney transplantation, associated with various factors, including rejection, glomerulonephritis, and toxicity from drugs such as tacrolimus. PMID:26031589

  13. Assessment of Median Nerve Mobility by Ultrasound Dynamic Imaging for Diagnosing Carpal Tunnel Syndrome

    PubMed Central

    Kuo, Tai-Tzung; Lee, Ming-Ru; Liao, Yin-Yin; Chen, Jiann-Perng; Hsu, Yen-Wei; Yeh, Chih-Kuang

    2016-01-01

    Carpal tunnel syndrome (CTS) is the most common peripheral neuropathy and is characterized by median nerve entrapment at the wrist and the resulting median nerve dysfunction. CTS is diagnosed clinically as the gold standard and confirmed with nerve conduction studies (NCS). Complementing NCS, ultrasound imaging could provide additional anatomical information on pathological and motion changes of the median nerve. The purpose of this study was to estimate the transverse sliding patterns of the median nerve during finger movements by analyzing ultrasound dynamic images to distinguish between normal subjects and CTS patients. Transverse ultrasound images were acquired, and a speckle-tracking algorithm was used to determine the lateral displacements of the median nerve in radial-ulnar plane in B-mode images utilizing the multilevel block-sum pyramid algorithm and averaging. All of the averaged lateral displacements at separate acquisition times within a single flexion–extension cycle were accumulated to obtain the cumulative lateral displacements, which were curve-fitted with a second-order polynomial function. The fitted curve was regarded as the transverse sliding pattern of the median nerve. The R2 value, curvature, and amplitude of the fitted curves were computed to evaluate the goodness, variation and maximum value of the fit, respectively. Box plots, the receiver operating characteristic (ROC) curve, and a fuzzy c-means clustering algorithm were utilized for statistical analysis. The transverse sliding of the median nerve during finger movements was greater and had a steeper fitted curve in the normal subjects than in the patients with mild or severe CTS. The temporal changes in transverse sliding of the median nerve within the carpal tunnel were found to be correlated with the presence of CTS and its severity. The representative transverse sliding patterns of the median nerve during finger movements were demonstrated to be useful for quantitatively estimating median nerve dysfunction in CTS patients. PMID:26764488

  14. 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

  15. Assessment of Median Nerve Mobility by Ultrasound Dynamic Imaging for Diagnosing Carpal Tunnel Syndrome.

    PubMed

    Kuo, Tai-Tzung; Lee, Ming-Ru; Liao, Yin-Yin; Chen, Jiann-Perng; Hsu, Yen-Wei; Yeh, Chih-Kuang

    2016-01-01

    Carpal tunnel syndrome (CTS) is the most common peripheral neuropathy and is characterized by median nerve entrapment at the wrist and the resulting median nerve dysfunction. CTS is diagnosed clinically as the gold standard and confirmed with nerve conduction studies (NCS). Complementing NCS, ultrasound imaging could provide additional anatomical information on pathological and motion changes of the median nerve. The purpose of this study was to estimate the transverse sliding patterns of the median nerve during finger movements by analyzing ultrasound dynamic images to distinguish between normal subjects and CTS patients. Transverse ultrasound images were acquired, and a speckle-tracking algorithm was used to determine the lateral displacements of the median nerve in radial-ulnar plane in B-mode images utilizing the multilevel block-sum pyramid algorithm and averaging. All of the averaged lateral displacements at separate acquisition times within a single flexion-extension cycle were accumulated to obtain the cumulative lateral displacements, which were curve-fitted with a second-order polynomial function. The fitted curve was regarded as the transverse sliding pattern of the median nerve. The R2 value, curvature, and amplitude of the fitted curves were computed to evaluate the goodness, variation and maximum value of the fit, respectively. Box plots, the receiver operating characteristic (ROC) curve, and a fuzzy c-means clustering algorithm were utilized for statistical analysis. The transverse sliding of the median nerve during finger movements was greater and had a steeper fitted curve in the normal subjects than in the patients with mild or severe CTS. The temporal changes in transverse sliding of the median nerve within the carpal tunnel were found to be correlated with the presence of CTS and its severity. The representative transverse sliding patterns of the median nerve during finger movements were demonstrated to be useful for quantitatively estimating median nerve dysfunction in CTS patients. PMID:26764488

  16. Cleft posterior mitral valve leaflet in an adult with Turner syndrome diagnosed with the use of 3-dimensional transesophageal echocardiography.

    PubMed

    Negrea, Stefania Luminita; Alexandrescu, Clara; Sabatier, Michel; Dreyfus, Gilles D

    2012-01-01

    Turner syndrome is a monosomy (45,X karyotype) in which the prevalence of cardiovascular anomalies is high. However, this aspect of Turner syndrome has received little attention outside of the pediatric medical literature, and the entire spectrum of cardiovascular conditions in adults remains unknown. We present the case of a 34-year-old woman who had Turner syndrome. When she was a teenager, her native bicuspid aortic valve was replaced with a mechanical prosthesis. Fifteen years later, during preoperative examination for prosthesis-patient mismatch, severe mitral regurgitation was detected, and a congenital cleft in the posterior leaflet of the mitral valve was diagnosed with use of 3-dimensional transesophageal echocardiography. The patient underwent concurrent mitral valve repair and aortic valve replacement. To our knowledge, this is the first report of a cleft in the posterior mitral valve leaflet as a cardiovascular defect observed in Turner syndrome, and the first such instance to have been diagnosed with the use of 3-dimensional echocardiography. PMID:22949775

  17. Cleft Posterior Mitral Valve Leaflet in an Adult with Turner Syndrome Diagnosed with the Use of 3-Dimensional Transesophageal Echocardiography

    PubMed Central

    Negrea, Stefania Luminita; Alexandrescu, Clara; Sabatier, Michel; Dreyfus, Gilles D.

    2012-01-01

    Turner syndrome is a monosomy (45,X karyotype) in which the prevalence of cardiovascular anomalies is high. However, this aspect of Turner syndrome has received little attention outside of the pediatric medical literature, and the entire spectrum of cardiovascular conditions in adults remains unknown. We present the case of a 34-year-old woman who had Turner syndrome. When she was a teenager, her native bicuspid aortic valve was replaced with a mechanical prosthesis. Fifteen years later, during preoperative examination for prosthesis-patient mismatch, severe mitral regurgitation was detected, and a congenital cleft in the posterior leaflet of the mitral valve was diagnosed with use of 3-dimensional transesophageal echocardiog-raphy. The patient underwent concurrent mitral valve repair and aortic valve replacement. To our knowledge, this is the first report of a cleft in the posterior mitral valve leaflet as a cardiovascular defect observed in Turner syndrome, and the first such instance to have been diagnosed with the use of 3-dimensional echocardiography. PMID:22949775

  18. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

    SciTech Connect

    Rossbach, H.C.; Granan, N.H.; Rossi, A.R.; Barbosa, J.L.

    1996-01-02

    Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.

  19. Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.

    PubMed

    Orhan, Diclehan; Balci, Sevim; Deren, Ozgür; Utine, Eda Gülen; Başaran, Ahmet; Kale, Gülsev

    2008-01-01

    Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome. PMID:19014058

  20. 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

  1. Quantitative computed tomography measurements of emphysema for diagnosing asthma-chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Xie, Mengshuang; Wang, Wei; Dou, Shuang; Cui, Liwei; Xiao, Wei

    2016-01-01

    Background The diagnostic criteria of asthma–COPD overlap syndrome (ACOS) are controversial. Emphysema is characteristic of COPD and usually does not exist in typical asthma patients. Emphysema in patients with asthma suggests the coexistence of COPD. Quantitative computed tomography (CT) allows repeated evaluation of emphysema noninvasively. We investigated the value of quantitative CT measurements of emphysema in the diagnosis of ACOS. Methods This study included 404 participants; 151 asthma patients, 125 COPD patients, and 128 normal control subjects. All the participants underwent pulmonary function tests and a high-resolution CT scan. Emphysema measurements were taken with an Airway Inspector software. The asthma patients were divided into high and low emphysema index (EI) groups based on the percentage of low attenuation areas less than −950 Hounsfield units. The characteristics of asthma patients with high EI were compared with those having low EI or COPD. Results The normal value of percentage of low attenuation areas less than −950 Hounsfield units in Chinese aged >40 years was 2.79%±2.37%. COPD patients indicated more severe emphysema and more upper-zone-predominant distribution of emphysema than asthma patients or controls. Thirty-two (21.2%) of the 151 asthma patients had high EI. Compared with asthma patients with low EI, those with high EI were significantly older, more likely to be male, had more pack-years of smoking, had more upper-zone-predominant distribution of emphysema, and had greater airflow limitation. There were no significant differences in sex ratios, pack-years of smoking, airflow limitation, or emphysema distribution between asthma patients with high EI and COPD patients. A greater number of acute exacerbations were seen in asthma patients with high EI compared with those with low EI or COPD. Conclusion Asthma patients with high EI fulfill the features of ACOS, as described in the Global Initiative for Asthma and Global Initiative for Chronic Obstructive Lung Disease guidelines. Quantitative CT measurements of emphysema may help in diagnosing ACOS. PMID:27226711

  2. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

    PubMed

    Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I

    2015-11-01

    Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15?days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified. PMID:25441681

  3. Oral Ulceration in Newly Diagnosed Leukaemic Patient with Undiagnosed Sweet's Syndrome.

    PubMed

    Brierley, Daniel; Slater, David N; Snowden, John; Holt, Debbie; Hegarty, Anne

    2015-01-01

    Sweet's syndrome is a relatively rare but important skin condition which can affect the oral cavity. Awareness of this reactive condition is important for dentists who work in hospitals, where it is most likely to present. This report summarizes one such case and aims to introduce the reader to Sweet's syndrome. PMID:26506815

  4. 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…

  5. 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

  6. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility

    PubMed Central

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3–4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  7. Rare case of monozygotic twins diagnosed with klinefelter syndrome during evaluation for infertility.

    PubMed

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3-4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  8. Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

    PubMed

    Truong, Hoa T; Solaymani-Kohal, Sara; Baker, Kevin R; Girirajan, Santhosh; Williams, Stephen R; Vlangos, Christopher N; Smith, Ann C M; Bunyan, David J; Roffey, Paul E; Blanchard, Christopher L; Elsea, Sarah H

    2008-03-01

    Smith-Magenis syndrome (SMS) and duplication 17p11.2 (dup17p11.2) syndrome are multiple congenital anomalies/mental retardation disorders resulting from either a deletion or duplication of the 17p11.2 region, respectively. The retinoic acid induced 1 (RAI1) gene is the causative gene for SMS and is included in the 17p11.2 region of dup17p11.2 syndrome. Currently SMS and dup17p11.2 syndrome are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses such as fluorescent in situ hybridization (FISH). However, these methods have proven to be highly expensive, time consuming, and dependent upon the low resolving capabilities of the assay. To address the need for improved diagnostic methods for SMS and dup17p11.2 syndrome, we designed a quantitative real-time PCR (Q-PCR) assay that measures RAI1 copy number using the comparative C(t) method, DeltaDeltaC(t). We tested our assay with samples blinded to their previous SMS or dup17p11.2 syndrome status. In all cases, we were able to determine RAI1 copy number status and render a correct diagnosis accordingly. We validated these results by both FISH and multiplex ligation-dependent probe amplification (MLPA). We conclude that Q-PCR is an accurate, reproducible, low-cost, and reliable assay that can be employed for routine use in SMS and dup17p11.2 diagnosis. PMID:18373405

  9. Eating avoidance disorder and Wernicke-Korsakoff syndrome following gastric bypass: an under-diagnosed association.

    PubMed

    Fandiño, Julia N; Benchimol, Alexander K; Fandiño, Leila N; Barroso, Fernando L; Coutinho, Walmir F; Appolinário, José C

    2005-09-01

    Wernicke-Korsakoff syndrome (WKS) and disordered eating behavior have been reported separately after bariatric surgery. We report a patient who following a bariatric operation developed WKS associated with a disturbed eating behavior without vomiting. This morbidly obese man developed an intense fear of gaining weight in the postoperative period and engaged in an extreme form of "food avoidance behavior". 2 months postoperatively after severe weight loss, he was hospitalized with disorientation and an amnesic syndrome. He was discharged 2 months later with stable weight and regular eating habits. Despite this, at the last follow-up visit 2 years postoperatively, he still had a residual partial amnesic syndrome. The surgical team must be aware of peculiar forms of pathological eating that may appear after bariatric surgery; the emergence of an eating avoidance disorder may be associated with the development of WKS. PMID:16197798

  10. 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

  11. Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

    PubMed Central

    Hepburn, Susan L.; Moody, Eric J.

    2015-01-01

    Assessing symptoms of autism in persons with known genetic syndromes associated with intellectual and/or developmental disability is a complex clinical endeavor. We suggest that a developmental approach to evaluation is essential to reliably teasing apart global impairments from autism-specific symptomology. In this chapter, we discuss our assumptions about autism spectrum disorders, the process of conducting a family-focused, comprehensive evaluation with behaviorally complex children and some implications for intervention in persons with co-occurring autism and known genetic syndromes. PMID:26269783

  12. Crowned dens syndrome diagnosed on ¹⁸F-FDG PET/CT.

    PubMed

    Monet, Antoine; Massonnat, Richard; Merino, Bertrand; Riviere, Annalisa; Richez, Christophe

    2014-12-01

    An 87-year-old woman with corticosteroid-resistant polymyalgia rheumatica underwent ¹⁸F-FDG PET/CT for suspected giant cell arteritis or neoplastic disease. FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome. Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery. PMID:25243939

  13. Effect of Acarbose on Long-Term Prognosis in Acute Coronary Syndromes Patients with Newly Diagnosed Impaired Glucose Tolerance

    PubMed Central

    Yun, Peng; Du, Ai-ming; Chen, Xue-jun; Liu, Jing-cheng; Xiao, Hu

    2016-01-01

    Objective. To investigate the effect of acarbose therapy on the long-term prognosis of patients with acute coronary syndromes (ACS) complicating newly diagnosed impaired glucose tolerance (IGT). Methodology. 135 patients hospitalized for ACS who had been newly diagnosed with IGT were randomly assigned to acarbose group (150 mg/day, n = 67) or control group (no acarbose, n = 68). All cases in each group were given the same elementary treatment. Mean follow-up was 2.3 years. The incidence of major adverse cardiovascular event (MACE) and carotid intima-middle thickness (CIMT) were statistically analyzed. Results. During the mean follow-up of 2.3 years, the risk of recurrent MACE in acarbose group was decreased significantly compared with that in control group (26.67% versus 46.88%, P < 0.05); at the same time, thickening of the CIMT was significantly slower than the control group ((1.28 ± 0.42) mm versus (1.51 ± 0.64) mm, P < 0.05). Conclusions. Acarbose can effectively reduce the risk of MACE in ACS patients with newly diagnosed IGT, simultaneously retarding the progression of carotid intima-media thickness. PMID:26770983

  14. Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin

    PubMed Central

    Engelking, Luke J.; Evers, Bret M.; Richardson, James A.; Goldstein, Joseph L.; Brown, Michael S.; Liang, Guosheng

    2006-01-01

    Insig-1 and Insig-2 are regulatory proteins that restrict the cholesterol biosynthetic pathway by preventing proteolytic activation of SREBPs and by enhancing degradation of HMG-CoA reductase. Here, we created Insig–double-knockout (Insig-DKO) mice that are homozygous for null mutations in Insig-1 and Insig-2. After 18.5 days of development, 96% of Insig-DKO embryos had defects in midline facial development, ranging from cleft palate (52%) to complete cleft face (44%). Middle and inner ear structures were abnormal, but teeth and skeletons were normal. The animals were lethargic and runted; they died within 1 day of birth. The livers and heads of Insig-DKO embryos overproduced sterols, causing a marked buildup of sterol intermediates. Treatment of pregnant mice with the HMG-CoA reductase inhibitor lovastatin reduced sterol synthesis in Insig-DKO embryos and reduced the pre-cholesterol intermediates. This treatment ameliorated the clefting syndrome so that 54% of Insig-DKO mice had normal faces, and only 7% had cleft faces. We conclude that buildup of pre-cholesterol sterol intermediates interferes with midline fusion of facial structures in mice. These findings have implications for the pathogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in which mutations in enzymes catalyzing steps in cholesterol biosynthesis produce a buildup of sterol intermediates. PMID:16955138

  15. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.

    PubMed

    Coenen, M J H; Smeitink, J A M; Farhoud, M H; Nijtmans, L G J; Rodenburg, R; Janssen, A; van Kaauwen, E P M; Trijbels, F J M; van den Heuvel, L P

    2006-02-01

    Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency. PMID:16601896

  16. 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…

  17. Diagnosing "vulnerable system syndrome": an essential prerequisite to effective risk management.

    PubMed

    Reason, J T; Carthey, J; de Leval, M R

    2001-12-01

    Investigations of accidents in a number of hazardous domains suggest that a cluster of organisational pathologies-the "vulnerable system syndrome" (VSS)-render some systems more liable to adverse events. This syndrome has three interacting and self-perpetuating elements: blaming front line individuals, denying the existence of systemic error provoking weaknesses, and the blinkered pursuit of productive and financial indicators. VSS is present to some degree in all organisations, and the ability to recognise its symptoms is an essential skill in the progress towards improved patient safety. Two kinds of organisational learning are discussed: "single loop" learning that fuels and sustains VSS and "double loop" learning that is necessary to start breaking free from it. PMID:11700375

  18. 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

  19. The role of reduced calorie intake test in diagnosing Gilbert syndrome--a case report.

    PubMed Central

    Orrett, F. A.

    1993-01-01

    This article describes a 29-year-old man with a 21-year history of undiagnosed jaundice. The major abnormality in this patient was unconjugated hyperbilirubinemia. All other liver function tests were normal. The apparent cause of his condition was elucidated, and the hyperbilirubinemia disappeared after he was treated with phenobarbitone. A review of the literature indicates that this is the first documented case of this syndrome in the English-speaking Caribbean. PMID:8107165

  20. Differential Diagnoses of Restless Legs Syndrome/Willis-Ekbom Disease: Mimics and Comorbidities.

    PubMed

    Chokroverty, Sudhansu

    2015-09-01

    Restless legs syndrome (RLS) mimics cannot always be differentiated from RLS/Willis-Ekbom disease (WED) based on 4 essential criteria; hence, a fifth criterion has recently been established. RLS comorbidities may provide us important clues for understanding the neurobiology of RLS/WED. Iron-dopamine connection, hypoxia pathway activation, and dopamine-opioid interaction are important pathophysiological mechanisms in RLS; this knowledge is derived from our understanding of RLS associations with a variety of medical, neurologic, and other conditions. Clinicians must formulate an RLS differential diagnosis based on history and physical examination, but laboratory tests may sometimes be needed to arrive at a correct diagnosis. PMID:26329435

  1. Bubbly and cystic appearance in chronic lung disease: Is this diagnosed as Wilson-Mikity syndrome?

    PubMed

    Namba, Fumihiko; Fujimura, Masanori; Tamura, Masanori

    2016-04-01

    Wilson-Mikity syndrome (WMS) was first reported in 1960 by Wilson and Mikity. They described preterm infants who developed areas of cystic emphysema in the first month of life with subsequent progression to chronic lung disease (CLD) of infancy, although these infants did not exhibit early respiratory distress, such as respiratory distress syndrome (RDS). This condition was widely accepted over the next 20 years, but WMS is now rarely mentioned and is commonly considered an anachronism. In Japan, CLD is classified into six types according to the presence of RDS and/or intrauterine inflammation and appearance on chest X-ray. One type of CLD (type III, which accounts for 13.5% of all CLD) is defined as history of intrauterine inflammation and the typical bubbly and cystic appearance on chest X-ray described in the original report of WMS. There is insufficient evidence to determine whether WMS exists or whether WMS is relatively common only in Japan and not in other countries. It is important, however, to distinguish this type of CLD from other types because the strategy for the prevention or treatment of CLD should be different according to its origin, cause, and risk factors. PMID:26717558

  2. POEMS Syndrome Diagnosed 10 Years after Disabling Peripheral Neuropathy

    PubMed Central

    Nguyen, Viet H.

    2011-01-01

    Peripheral neuropathy is characterized as a generalized, relatively homogeneous process affecting many peripheral nerves and predominantly affecting distal nerves. The epidemiology of peripheral neuropathy is limited since the disease presents with varying etiology, pathology, and severity. Toxic, inflammatory, hereditary, and infectious factors can cause damage to the peripheral nerves resulting in peripheral neuropathy. Peripheral neuropathy is most commonly caused by diabetes, alcohol, HIV infection, and malignancy. We report a case of a 42-year-old female with 10-year history of progressively worsening peripheral neuropathy, hypothyroidism, and skin changes who presents with dyspnea secondary to recurrent pleural and pericardial effusions. Prior to her arrival, her peripheral neuropathy was believed to be secondary to chronic demyelinating inflammatory polyneuropathy (CDIP) given elevated protein in the cerebral spinal fluid (CSF) which was treated with intravenous immunoglobulin (IVIG) and corticosteroids. Unfortunately, her peripheral neuropathy did not have any improvement. Incidentally, patient was found to have splenomegaly and papilledema on physical exam. Serum protein electrophoresis showed a monoclonal pattern of IgA lambda. Patient met the diagnostic criteria for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. An underlying diagnosis of POEMS syndrome should be considered in patients with chronic debilitating neuropathy and an elevated protein in the CSF. PMID:22013451

  3. POEMS Syndrome Diagnosed 10 Years after Disabling Peripheral Neuropathy.

    PubMed

    Nguyen, Viet H

    2011-01-01

    Peripheral neuropathy is characterized as a generalized, relatively homogeneous process affecting many peripheral nerves and predominantly affecting distal nerves. The epidemiology of peripheral neuropathy is limited since the disease presents with varying etiology, pathology, and severity. Toxic, inflammatory, hereditary, and infectious factors can cause damage to the peripheral nerves resulting in peripheral neuropathy. Peripheral neuropathy is most commonly caused by diabetes, alcohol, HIV infection, and malignancy. We report a case of a 42-year-old female with 10-year history of progressively worsening peripheral neuropathy, hypothyroidism, and skin changes who presents with dyspnea secondary to recurrent pleural and pericardial effusions. Prior to her arrival, her peripheral neuropathy was believed to be secondary to chronic demyelinating inflammatory polyneuropathy (CDIP) given elevated protein in the cerebral spinal fluid (CSF) which was treated with intravenous immunoglobulin (IVIG) and corticosteroids. Unfortunately, her peripheral neuropathy did not have any improvement. Incidentally, patient was found to have splenomegaly and papilledema on physical exam. Serum protein electrophoresis showed a monoclonal pattern of IgA lambda. Patient met the diagnostic criteria for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. An underlying diagnosis of POEMS syndrome should be considered in patients with chronic debilitating neuropathy and an elevated protein in the CSF. PMID:22013451

  4. Diagnosing moral disorder: the discovery and evolution of fetal alcohol syndrome.

    PubMed

    Armstrong, E M

    1998-12-01

    The diagnosis of fetal alcohol syndrome (FAS) was invented in 1973. This paper investigates the process by which a cluster of birth defects associated with exposure to alcohol in utero came to be a distinct medical diagnosis, focusing on the first ten years of the medical literature on FAS. Fetal alcohol syndrome was "discovered" by a group of American dysmorphologists who published the first case reports and coined the term FAS. However, the nature of the diagnosis and its salient symptoms were determined collectively over time by the medical profession as a whole. The paper traces the natural history of the diagnosis in the U.S. through five stages: introduction, confirmation and corroboration, dissent, expansion, and diffusion. FAS serves as an example of the social construction of clinical diagnosis; moral entrepreneurship plays a key role and the medical literature on FAS is infused with moral rhetoric, including passages from classical mythology, philosophy, and the Bible. FAS is a moral as well as a medical diagnosis, reflecting the broader cultural concerns of the era in which it was discovered, including a greater awareness of environmental threats to health, the development of fetal medicine, an emphasis on "the perfect child," and a growing paradigm of maternal-fetal conflict. PMID:10075244

  5. Predictive Value of Sympathetic Skin Response in Diagnosing Complex Regional Pain Syndrome: A Case-Control Study

    PubMed Central

    Kim, Hyun Jung; Yang, Hea Eun; Kim, Dae Hyun

    2015-01-01

    Objective To investigate the predictive value of the sympathetic skin response (SSR) in diagnosing complex regional pain syndrome (CRPS) by comparing three diagnostic modalities-SSR, three-phasic bone scans (TPBS), and thermography. Methods Thirteen patients with severe limb pain were recruited. Among them, 6 were diagnosed with CRPS according to the proposed revised CRPS clinical diagnostic criteria described by the International Association for the Study of Pain. SSR was measured in either the hands or feet bilaterally and was considered abnormal when the latency was prolonged. A positive TPBS finding was defined as diffuse increased tracer uptake on the delayed image. Thermographic findings were considered positive if a temperature asymmetry greater than 1.00℃ was detected between the extremities. Results Five of 6 CRPS patients showed prolonged latency on SSR (83% sensitivity). TPBS was positive in the 5 CRPS patients who underwent TPBS (100% sensitivity). Thermography was positive in 4 of 5 CRPS patients who underwent the procedure (80% sensitivity). The remaining 7 non-CRPS patients differed on examination. SSR latencies within normal limit were noted in 4 of 7 non-CRPS patients (57% specificity). Results were negative in 4 of 5 non-CRPS patients who underwent TPBS (80% specificity), and negative in 3 of 5 non-CRPS patients who underwent thermography (60% specificity). Conclusion SSR may be helpful in detecting CRPS. PMID:25750880

  6. Multimodal Chiropractic Care of Pain and Disability for a Patient Diagnosed With Benign Joint Hypermobility Syndrome: A Case Report

    PubMed Central

    Strunk, Richard G.; Pfefer, Mark T.; Dube, Derrick

    2014-01-01

    Objective The purpose of this case report is to describe multimodal chiropractic care of a female patient diagnosed with benign joint hypermobility syndrome (BJHS) and a history of chronic spine pain. Clinical features A 23-year-old white female presented for chiropractic care with chronic low back pain, neck pain, and headaches. The patient was diagnosed with BJHS, including joint hypermobility of her thumbs, elbows, right knee, and lumbopelvic region. A 6-year history of low back pain and varicose veins in her posterior thighs and knees were additional significant diagnostic findings of BJHS. Interventions and outcomes The treatment consisted of spinal and extremity manipulation, Graston technique, and postisometric relaxation combined with sensory motor stimulation and scapular stabilization exercises. The patient was seen 15 times over an 18-week period. After 18 weeks of care, the Revised Oswestry Low Back Questionnaire and Headache Disability Index demonstrated clinically important improvements with her low back pain and headache; but little change was noted in her neck pain as measured by the Neck Disability Index. Conclusion This patient with BJHS who had decreased disability and spine pain improved after a course of multimodal chiropractic care. PMID:24711783

  7. Resolution of metabolic syndrome after following a gluten free diet in an adult woman diagnosed with celiac disease

    PubMed Central

    García-Manzanares, Álvaro; Lucendo, Alfredo J; González-Castillo, Sonia; Moreno-Fernández, Jesús

    2011-01-01

    Adult celiac disease (CD) presents with very diverse symptoms that are clearly different from those typically seen in pediatric patients, including ferropenic anemia, dyspepsia, endocrine alterations and elevated transaminase concentration. We present the case of a 51-year-old overweight woman with altered basal blood glucose, hypercholesterolemia, hypertriglyceridemia and persisting elevated transaminase levels, who showed all the symptoms for a diagnosis of metabolic syndrome. Because she presented iron deficiency anemia, she was referred to the gastroenterology department and subsequently diagnosed with celiac disease after duodenal biopsies and detection of a compatible HLA haplotype. Gluten-free diet (GFD) was prescribed and after 6 mo the patient showed resolution of laboratory abnormalities (including recovering anemia and iron reserves, normalization of altered lipid and liver function parameters and decrease of glucose blood levels). No changes in weight or waist circumference were observed and no significant changes in diet were documented apart from the GFD. The present case study is the first reported description of an association between CD and metabolic syndrome, and invites investigation of the metabolic changes induced by gluten in celiac patients. PMID:21860836

  8. On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO

    PubMed Central

    Björkhem, Ingemar; Diczfalusy, Ulf; Lövgren-Sandblom, Anita; Starck, Lena; Jonsson, Monica; Tallman, Keri; Schirmer, Henrik; Ousager, Lilian Bomme; Crick, Peter J.; Wang, Yuqin; Griffiths, William J.; Guengerich, F. Peter

    2014-01-01

    A new mechanism for formation of 7-ketocholesterol was recently described involving cytochrome P-450 (CYP)7A1-catalyzed conversion of 7-dehydrocholesterol into 7-ketocholesterol with cholesterol-7,8-epoxide as a side product. Some patients with cerebrotendinous xanthomatosis (CTX) and all patients with Smith-Lemli-Opitz syndrome (SLO) have markedly increased levels of 7-dehydrocholesterol in plasma and tissues. In addition, the former patients have markedly upregulated CYP7A1. We hypothesized that these patients may produce 7-ketocholesterol from 7-dehydrocholesterol with formation of cholesterol-7,8-epoxide as a side product. In accord with this hypothesis, two patients with CTX were found to have increased levels of 7-ketocholesterol and 7-dehydrocholesterol, as well as a significant level of cholesterol-7,8-epoxide. The latter steroid was not detectable in plasma from healthy volunteers. Downregulation of CYP7A1 activity by treatment with chenodeoxycholic acid reduced the levels of 7-ketocholesterol in parallel with decreased levels of 7-dehydrocholesterol and cholesterol-7,8-epoxide. Three patients with SLO were found to have markedly elevated levels of 7-ketocholesterol as well as high levels of cholesterol-7,8-epoxide. The results support the hypothesis that 7-dehydrocholesterol is a precursor to 7-ketocholesterol in SLO and some patients with CTX. PMID:24771866

  9. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

    PubMed

    Boenzi, Sara; Deodato, Federica; Taurisano, Roberta; Goffredo, Bianca Maria; Rizzo, Cristiano; Dionisi-Vici, Carlo

    2016-03-01

    Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient's age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C. PMID:26733147

  10. 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

  11. Clinical potential of in vitro measured red cell deformability, a myth?

    PubMed

    Hardeman, M R; Ince, C

    1999-01-01

    For many years the study of Red Blood Cell (RBC) deformability has been limited to specialised hematological research institutes and this has hampered a widespread clinical testing of this dynamic RBC property. Consequently, the clinical relevance of such in vitro measurements has remained questionable now for a considerable time. The recent availability of the LORCA, a routinely applicable and computer assisted instrument for this purpose, opens now the possibility to evaluate RBC deformability on a large scale in various pathological situations associated with impaired microcirculatory flow. In this communication we present our clinical experience obtained thusfar with this instrument. Besides the effect of physiological aging of normal RBC, the results of a clinical study on malaria tropica, case studies of hereditary elliptocytosis, Smith-Lemli-Opitz syndrome (a cholesterol biosynthesis defect), the treatment of sickle cell crisis with hydroxy-urea as well as the clinical intervention with Cyclosporin, are collected. In conclusion, it can be stated that the limited clinical experience with the LORCA as is reported here, yields sufficient evidence about the clinical potential of this technique. PMID:10711755

  12. Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction

    PubMed Central

    Petrov, A. M.; Kasimov, M. R.; Zefirov, A. L.

    2016-01-01

    Cholesterol is an important constituent of cell membranes and plays a crucial role in the compartmentalization of the plasma membrane and signaling. Brain cholesterol accounts for a large proportion of the body’s total cholesterol, existing in two pools: the plasma membranes of neurons and glial cells and the myelin membranes . Cholesterol has been recently shown to be important for synaptic transmission, and a link between cholesterol metabolism defects and neurodegenerative disorders is now recognized. Many neurodegenerative diseases are characterized by impaired cholesterol turnover in the brain. However, at which stage the cholesterol biosynthetic pathway is perturbed and how this contributes to pathogenesis remains unknown. Cognitive deficits and neurodegeneration may be associated with impaired synaptic transduction. Defects in cholesterol biosynthesis can trigger dysfunction of synaptic transmission. In this review, an overview of cholesterol turnover under physiological and pathological conditions is presented (Huntington’s, Niemann-Pick type C diseases, Smith-Lemli-Opitz syndrome). We will discuss possible mechanisms by which cholesterol content in the plasma membrane influences synaptic processes. Changes in cholesterol metabolism in Alzheimer’s disease, Parkinson’s disease, and autistic disorders are beyond the scope of this review and will be summarized in our next paper. PMID:27099785

  13. A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans[S

    PubMed Central

    van de Pas, Niek C. A.; Woutersen, Ruud A.; van Ommen, Ben; Rietjens, Ivonne M. C. M.; de Graaf, Albert A.

    2012-01-01

    Increased plasma cholesterol concentration is associated with increased risk of cardiovascular disease. This study describes the development, validation, and analysis of a physiologically based kinetic (PBK) model for the prediction of plasma cholesterol concentrations in humans. This model was directly adapted from a PBK model for mice by incorporation of the reaction catalyzed by cholesterol ester transfer protein and contained 21 biochemical reactions and eight different cholesterol pools. The model was calibrated using published data for humans and validated by comparing model predictions on plasma cholesterol levels of subjects with 10 different genetic mutations (including familial hypercholesterolemia and Smith-Lemli-Opitz syndrome) with experimental data. Average model predictions on total cholesterol were accurate within 36% of the experimental data, which was within the experimental margin. Sensitivity analysis of the model indicated that the HDL cholesterol (HDL-C) concentration was mainly dependent on hepatic transport of cholesterol to HDL, cholesterol ester transfer from HDL to non-HDL, and hepatic uptake of cholesterol from non-HDL-C. Thus, the presented PBK model is a valid tool to predict the effect of genetic mutations on cholesterol concentrations, opening the way for future studies on the effect of different drugs on cholesterol levels in various subpopulations in silico. PMID:23024287

  14. A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans.

    PubMed

    van de Pas, Niek C A; Woutersen, Ruud A; van Ommen, Ben; Rietjens, Ivonne M C M; de Graaf, Albert A

    2012-12-01

    Increased plasma cholesterol concentration is associated with increased risk of cardiovascular disease. This study describes the development, validation, and analysis of a physiologically based kinetic (PBK) model for the prediction of plasma cholesterol concentrations in humans. This model was directly adapted from a PBK model for mice by incorporation of the reaction catalyzed by cholesterol ester transfer protein and contained 21 biochemical reactions and eight different cholesterol pools. The model was calibrated using published data for humans and validated by comparing model predictions on plasma cholesterol levels of subjects with 10 different genetic mutations (including familial hypercholesterolemia and Smith-Lemli-Opitz syndrome) with experimental data. Average model predictions on total cholesterol were accurate within 36% of the experimental data, which was within the experimental margin. Sensitivity analysis of the model indicated that the HDL cholesterol (HDL-C) concentration was mainly dependent on hepatic transport of cholesterol to HDL, cholesterol ester transfer from HDL to non-HDL, and hepatic uptake of cholesterol from non-HDL-C. Thus, the presented PBK model is a valid tool to predict the effect of genetic mutations on cholesterol concentrations, opening the way for future studies on the effect of different drugs on cholesterol levels in various subpopulations in silico. PMID:23024287

  15. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.

    PubMed

    Sobey, Glenda

    2015-01-01

    The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis. PMID:24994860

  16. Abdominal compartment syndrome Intra-abdominal hypertension: Defining, diagnosing, and managing

    PubMed Central

    Papavramidis, Theodossis S; Marinis, Athanasios D; Pliakos, Ioannis; Kesisoglou, Isaak; Papavramidou, Nicki

    2011-01-01

    Abdominal compartment syndrome (ACS) and intra-abdominal hypertension (IAH) are increasingly recognized as potential complications in intensive care unit (ICU) patients. ACS and IAH affect all body systems, most notably the cardiac, respiratory, renal, and neurologic systems. ACS/IAH affects blood flow to various organs and plays a significant role in the prognosis of the patients. Recognition of ACS/IAH, its risk factors and clinical signs can reduce the morbidity and mortality associated. Moreover, knowledge of the pathophysiology may help rationalize the therapeutic approach. We start this article with a brief historic review on ACS/IAH. Then, we present the definitions concerning parameters necessary in understanding ACS/IAH. Finally, pathophysiology aspects of both phenomena are presented, prior to exploring the various facets of ACS/IAH management. PMID:21769216

  17. Sudden Infant Death Syndrome in Korea: A Retrospective Analysis of Autopsy-Diagnosed Cases

    PubMed Central

    Yoo, Seong Ho; Kim, Angela Julie; Kang, Shin-Mong; Lee, Han Young; Seo, Joong-Seok; Kwon, Tae Jung

    2013-01-01

    This study aimed to elucidate the demographic and sleeping environmental factors associated with sudden infant death syndrome (SIDS) in Korea. The autopsy reports of all SIDS cases reported to the National Forensic Service and Seoul National University College of Medicine between 1996 and 2008 were reviewed for data collection and analysis to identify the risk factors for SIDS. Analysis of the 355 SIDS cases reported within the study period revealed that of the 168 (47.3%) cases for which sleeping position before death had been reported, 75 (44.7%) cases had occurred after placement in prone or side position. Of the 204 (57.5%) cases for which bed-sharing situation had been reported, 121 (59.3%) deaths had occurred during bed-sharing, of which 54 (44.6%) infants were under 3 months of age, a significantly younger age than that of the non-bed-sharing cases (P = 0.0279). Analysis of the results indicated no tendency toward an increase or decrease in the use of a prone or side position. Rather, there was a statistically significant increasing trend for bed-sharing over the study period (OR, 1.087; 95% CI, 1.004-1.177; P = 0.04). These findings indicate the need for nationwide educational programs promoting a safe sleeping environment to enhance SIDS prevention. PMID:23487503

  18. Fecal calprotectin is a useful marker to diagnose ulcerative colitis from irritable bowel syndrome

    PubMed Central

    Kalantari, Hamid; Taheri, Akhtar; Yaran, Majid

    2015-01-01

    Background: This study was aimed to evaluate the predictive value of fecal calprotectin in patients with ulcerative colitis from patients with irritable bowel syndrome (IBS). Materials and Methods: Between May and October 2013, 88 adult patients, between the age 18 and 65 years with a history of chronic diarrhea of unknown origin were assessed. Standard colonoscopies were performed in all patients to assess ulcerative colitis. Before colonoscopies, they were asked to supply a stool specimen. Fecal calprotectin value was measured using a commercial enzyme-linked immunosorbent assay kit. Results: The mean of age, gender combination, and body mass index were not significantly different between patients with ulcerative colitis or IBS. The duration of disease in ulcerative colitis patients was significantly higher than IBS patients (P < 0.0001). The level of calprotectin in ulcerative colitis patients was significantly higher than IBS patients (265.9 vs 115.8, respectively, P = 0.001). Also, cutoff value >164 μg/g with sensitivity and specify of 57 (CI: 41%–71.6%), and 75 (CI: 59.7%–56.8%), respectively, was the best for discrimination between patients with ulcerative colitis and those with IBS. Conclusion: Our results show that fecal calprotectin as a noninvasive method, which can be used to identify patients with ulcerative colitis from IBS patients has low sensitivity and specificity. PMID:26015911

  19. Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

    PubMed

    Hamon, Yveline; Legowska, Monika; Fergelot, Patricia; Dallet-Choisy, Sandrine; Newell, Louise; Vanderlynden, Lise; Kord Valeshabad, Ali; Acrich, Karina; Kord, Hadi; Charalampos, Tsamakis; Morice-Picard, Fanny; Surplice, Ian; Zoidakis, Jerome; David, Karen; Vlahou, Antonia; Ragunatha, Shivanna; Nagy, Nikoletta; Farkas, Katalin; Széll, Márta; Goizet, Cyril; Schacher, Beate; Battino, Maurizio; Al Farraj Aldosari, Abdullah; Wang, Xinwen; Liu, Yang; Marchand-Adam, Sylvain; Lesner, Adam; Kara, Elodie; Korkmaz-Icöz, Sevil; Moss, Celia; Eickholz, Peter; Taieb, Alain; Kavukcu, Salih; Jenne, Dieter E; Gauthier, Francis; Korkmaz, Brice

    2016-02-01

    Papillon-Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. PMID:26607765

  20. Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.

    PubMed

    Meschede, D; Louwen, F; Nippert, I; Holzgreve, W; Miny, P; Horst, J

    1998-12-01

    Over the past 9 years we counseled 55 couples whose unborn child was found to carry a sex chromosome polysomy. We performed a survey of postcounseling parental decisions about continuation or termination of these pregnancies. Of the 55 embryos or fetuses, 23 had the karyotype 47,XXY, 10 had 47,XYY, and 12 had 47,XXX. In addition, there were 10 instances of true mosaicism, i.e. 47,XXY/46,XY (n = 5), 47,XYY/46,XY (n = 2), or 47,XXX/46,XX (n = 3). Mean gestational age (+/-standard deviation) at diagnosis was 18.3+/-3.0 weeks. After comprehensive genetic counseling 48 (87.3%) of these pregnancies were carried to term. In seven cases (12.7%) the parents elected a pregnancy termination. Two of 31 pregnancies (6.5%) primarily ascertained at our center were aborted, whereas amongst the 24 referred cases, 5 couples (20.8%) opted for a termination. The mean gestational age of the terminated pregnancies was 19.7 weeks. The overall termination rate of 12.7% appears low in comparison with literature data. Most reports from other institutions present termination rates between 32 and 66%. The reason for the low rate of induced abortions in our study cohort is not clear. Cultural differences in parental perception of sex chromosomal polysomies may be of importance, and peculiarities of genetic counseling at our institution could also play a role. Although counseling was nondirective, we did put emphasis on providing prospective parents with information from unbiased follow-up studies of children with Klinefelter syndrome and other sex chromosome polysomies. PMID:9856559

  1. 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

  2. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    PubMed Central

    Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

    2013-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in contrast to those whose recovery period prolongs in spite of early diagnosis and appropriate treatment and/or those who experience incomplete recovery. Conclusion: In summary, diagnosis of PCB variant of GBS should be considered in infants with sudden onset bulbar symptoms and muscle weakness, and it should be kept in mind that early diagnosis and appropriate treatment can give successful outcomes. PMID:25207134

  3. Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome

    PubMed Central

    2014-01-01

    Background The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum. Methods Here, we analysed sera from adults diagnosed with AS (males = 14, females = 16) and controls (males = 13, females = 16) not on medication at the time of sample collection, using a combination of multiplex immunoassay and shotgun label-free liquid chromatography mass spectrometry (LC-MSE). The main objective was to identify sex-specific serum protein changes associated with AS. Results Multiplex immunoassay profiling led to identification of 16 proteins that were significantly altered in AS individuals in a sex-specific manner. Three of these proteins were altered in females (ADIPO, IgA, APOA1), seven were changed in males (BMP6, CTGF, ICAM1, IL-12p70, IL-16, TF, TNF-alpha) and six were changed in both sexes but in opposite directions (CHGA, EPO, IL-3, TENA, PAP, SHBG). Shotgun LC-MSE profiling led to identification of 13 serum proteins which had significant sex-specific changes in the AS group and, of these, 12 were altered in females (APOC2, APOE, ARMC3, CLC4K, FETUB, GLCE, MRRP1, PTPA, RN149, TLE1, TRIPB, ZC3HE) and one protein was altered in males (RGPD4). The free androgen index in females with AS showed an increased ratio of 1.63 compared to controls. Conclusion Taken together, the serum multiplex immunoassay and shotgun LC-MSE profiling results indicate that adult females with AS had alterations in proteins involved mostly in lipid transport and metabolism pathways, while adult males with AS showed changes predominantly in inflammation signalling. These results provide further evidence that the search for biomarkers or novel drug targets in AS may require stratification into male and female subgroups, and could lead to the development of novel targeted treatment approaches. PMID:24467795

  4. Diffuse Venous Malformation of the Uterus in a Pregnant Woman with Klippel-Trénaunay Syndrome Diagnosed by DCE-MRI

    PubMed Central

    Yara, Nana; Masamoto, Hitoshi; Iraha, Yuko; Wakayama, Akihiko; Chinen, Yukiko; Nitta, Hayase; Kinjo, Tadatsugu

    2016-01-01

    Background. We experienced a rare case of a pregnant woman with Klippel-Trénaunay syndrome complicated with diffuse venous malformation of the uterus. This is the first report on the usefulness of dynamic contrast-enhanced-MRI for the diagnosis of diffuse venous malformation of the uterus. Case Presentation. A 23-year-old woman presented with convulsions and talipes equinus position of both lower limbs at 11 weeks of gestation. At 27 weeks, ultrasonography demonstrated tubular echolucent spaces throughout the myometrium. Dynamic MRI at 37 weeks revealed that the myometrial lesion was enhanced slowly and showed homogeneous enhancement even on a 10 min delayed image. Taken together with unilateral foot hypertrophy, varices, and port-wine stain, the patient was diagnosed as having Klippel-Trénaunay syndrome complicated with diffuse venous malformation of the pregnant uterus. The patient underwent elective cesarean section because of severe dystonia. The lower uterine segment was thickened and heavy venous blood flow was observed at the incision. Histological diagnosis of the myometrial biopsy specimen was venous malformation. Conclusions. Both diffuse venous malformation and Klippel-Trénaunay syndrome during pregnancy can involve considerable complications, in particular, massive bleeding during labor. Women who suffer from this syndrome should be advised about the risk of complications of pregnancy. PMID:27006845

  5. Management of Men Diagnosed With Chronic Prostatitis/Chronic Pelvic Pain Syndrome Who Have Failed Traditional Management

    PubMed Central

    Curtis Nickel, J; Baranowski, Andrew P; Pontari, Michel; Berger, Richard E; Tripp, Dean A

    2007-01-01

    For many patients, the traditional biomedical model that physicians have used to manage chronic prostatitis does not work. This article describes innovative treatment strategies for chronic prostatitis/chronic pelvic pain syndrome, with an emphasis on novel biomedical physical therapy and biopsychosocial approaches to the management of individualized patient symptoms. PMID:17592539

  6. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

    PubMed

    Wenger, Tara L; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P; Barnett, Sarah S; Ganetzky, Rebecca; McDonald-McGinn, Donna M; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, Elena; Romano, Silvia; Cocchi, Guido; Savasta, Salvatore; Malbora, Baris; Marangi, Giuseppe; Garavelli, Livia; Zollino, Marcella; Zackai, Elaine H

    2014-10-01

    Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia. These cases may be more difficult to diagnose. In this report, we add 28 MWS patients with molecular confirmation of ZEB2 mutation, including seven with an uncommon presenting feature. Among the "unusual" patients, two patients had clinical features of charge syndrome including choanal atresia, coloboma, cardiac defects, genitourinary anomaly (1/2), and severe intellectual disability; two patients had craniosynostosis; and three patients had mild intellectual disability. Sixteen patients have previously-unreported mutations in ZEB2. Genotype-phenotype correlations were suggested in those with mild intellectual disability (two had a novel missense mutation in ZEB2, one with novel splice site mutation). This report increases the number of reported patients with MWS with unusual features, and is the first report of MWS in children previously thought to have CHARGE syndrome. These patients highlight the importance of facial gestalt in the accurate identification of MWS when less common features are present. PMID:25123255

  7. 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

    2016-03-30

    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

  8. A Case of Blind Loop Syndrome Caused by Infection with Giardia duodenalis Diagnosed with Double Balloon Enteroscopy

    PubMed Central

    Nakagawa, Tomoo; Katsuno, Tatsuro; Mandai, Yasushi; Saito, Masaya; Yoshihama, Sayuri; Saito, Keiko; Minemura, Shoko; Maruoka, Daisuke; Matsumura, Tomoaki; Arai, Makoto; Yokosuka, Osamu

    2014-01-01

    A 75-year-old man who had undergone partial gastrectomy was referred to our hospital due to worsening leg edema, loose stools and malnutrition. Double balloon enteroscopy followed by insertion of an indwelling ileus tube was performed to investigate the microbial flora and for washing inside the blind loop. Trophozoites of Giardia were detected in the sampled fluid from the blind loop and DNA analysis disclosed an assemblage of genotype A-II of Giardia duodenalis. Treatment with oral metronidazole was effective. This case emphasizes the importance of a correct diagnosis when treating patients with blind loop syndrome in the digestive tract. PMID:25408630

  9. [A need to implement new tools for diagnosing tobacco-addition syndrome and readiness/motivation to quit smoking in the working-age population in Poland].

    PubMed

    Broszkiewicz, Marzenna; Drygas, Wojciech

    2016-01-01

    High rates of tobacco use is still observed in working-age population in Poland. The present level of the state tobacco control has been achieved through adopting legal regulations and population-based interventions. In Poland a sufficient contribution of health professionals to the diagnosis of the tobacco-addition syndrome (TAS) and the application of the 5A's (ask, advice, assess, assist, arrange follow-up) brief intervention, has not been confirmed by explicit research results. Systemic solutions of the health care system of the professional control, specialist health care, health professional trainings and reference centres have not as yet been elaborated. The tools for diagnosing tobacco dependence and motivation to quit smoking, developed over 30 years ago and recommended by experts to be used in clinical and research practice, have not met the current addiction criteria. In this paper other tools than those previously recommended - tests developed in the first decade of the 21st century (including Cigarette Dependence Scale and Nicotine Dependence Syndrome Scale), reflecting modern concepts of nicotine dependence are presented. In the literature on the readiness/motivation to change health behaviors, a new approach dominates. The motivational interviewing (MI) by Miller and Rollnick concentrates on a smoking person and his or her internal motivation. Motivational interviewing is recommended by the World Health Organization as a 5R's (relevance, risks, rewards, roadblocks, repetition) brief motivational advice, addressed to tobacco users who are unwilling to make a quit attempt. In Poland new research studies on the implementation of new diagnostic tools and updating of binding guidelines should be undertaken, to strengthen primary health care in treating tobacco dependence, and to incorporate MI and 5R's into trainings in TAS diagnosing and treating addressed to health professionals. Med Pr 2016;67(1):97-108. PMID:27044722

  10. Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis

    PubMed Central

    2013-01-01

    In 1937 Butler and Marrian found large amounts of the steroid pregnanetriol in urine from a patient with the adrenogenital syndrome, a virilizing condition known to be caused by compromised adrenal secretion even in this pre-cortisol era. This introduced the concept of the study of altered excretion of metabolites as an in vivo tool for understanding sterol and steroid biosynthesis. This approach is still viable and has experienced renewed significance as the field of metabolomics. From the first cyclized sterol lanosterol to the most downstream product estradiol, there are probably greater than 30 steps. Based on a distinctive metabolome clinical disorders have now been attributed to about seven post-squalene cholesterol (C) biosynthetic steps and around 15 en-route to steroid hormones or needed for further metabolism of such hormones. Forty years ago it was widely perceived that the principal steroid biosynthetic defects were known but interest rekindled as novel metabolomes were documented. In his career this investigator has been involved in the study of many steroid disorders, the two most recent being P450 oxidoreductase deficiency and apparent cortisone reductase deficiency. These are of interest as they are due not to mutations in the primary catalytic enzymes of steroidogenesis but in ancillary enzymes needed for co-factor oxido-reduction A third focus of this researcher is Smith-Lemli-Opitz syndrome (SLOS), a cholesterol synthesis disorder caused by 7-dehydrocholesterol reductase mutations. The late George Schroepfer, in whose honor this article has been written, contributed greatly to defining the sterol metabolome of this condition. Defining the cause of clinically severe disorders can lead to improved treatment options. We are now involved in murine gene therapy studies for SLOS which, if successful could in the future offer an alternative therapy for this severe condition. PMID:21874273

  11. Necrolytic migratory erythema associated with glucagonoma syndrome diagnosed by ⁶⁸Ga-DOTANOC PET-CT.

    PubMed

    Sahoo, Manas K; Gupta, Somesh; Singh, Ishita; Pahwa, Shivani; Durgapal, Prashant; Bal, Chandra Sekhar

    2014-06-01

    Necrolytic migratory erythema (NME) is a rare dermatological condition which presents a diagnostic challenge. Repeated negative skin biopsies and non-detection of any pancreatic tumor in conventional imaging modalities like a computed tomography (CT) scan and ultrasonogram (USG) make the diagnosis more difficult. By the time the diagnosis is made, the patient usually presents with metastasis. We present a rare case of difficult to diagnose NME, as repeated skin biopsies and conventional imaging modalities like CT and USG could not detect the underlying glucagonoma. A (68)Ga-DOTANOC positron emission tomography PET-CT was able to detect the underlying cause of NME as glucagonoma of the pancreas and the same investigation confirmed the absence of any metastasis elsewhere in the body. The tumor was excised and patient dramatically improved, and all skin lesions disappeared. PMID:23279825

  12. Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions

    SciTech Connect

    Saitoh, Shinji; Niikawa, Norio; Mutirangura, A.; Kuwano, A.; Ledbetter, D.H.

    1994-03-01

    Since a previous report on two Prader-Willi syndrome (PWS) patients with t(15q;15q) was erroneous, the authors report new data and a corrected interpretation. Reexamination of the parental origin of their t(15q;15q) using polymorphic DNA markers that are mapped to various regions of 15q documented no molecular deletions at the 15q11-q13 region in either patient. Both patients were homozygous at all loci examined and their haplotypes on 15q coincided with one of those in their respective mothers. These results indicate that the presumed t(15q;15q) in each patient was actually an isochromosome 15q producing maternal uniparental disomy, consistent with genomic imprinting at the PWS locus. 30 refs., 1 fig., 3 tabs.

  13. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH.

    PubMed

    Karimi, Hamideh; Sabbaghian, Marjan; Haratian, Kaveh; Vaziri Nasab, Hamed; Farrahi, Faramarz; Moradi, Shabnam Zari; Tavakolzadeh, Tayebeh; Beheshti, Zahra; Gourabi, Hamid; Meybodi, Anahita Mohseni

    2014-07-01

    Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%). This was confirmed by fluorescence in situ hybridization (FISH). Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic. PMID:25083188

  14. Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome.

    PubMed

    Konar, Sudipto; Dasgupta, Debdeep; Patra, Dipak Kumar; De, Angshuman; Mallick, Barindranath

    2015-04-01

    The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype. They usually present late with primary amenorrhea but delayed diagnosis increases chance of gonadal malignancy. Alertness for this entity is crucial as with early diagnosis such disorder can be managed more appropriately for a better future. We hereby describe a case of CAIS in an 8-year-old girl presented with bilateral inguinal swellings. Endocrinological analysis, radiological investigations and cytogenetic studies were done. Investigations revealed absence of female internal genitalia. Karyotyping and molecular study confirmed the presence of Y chromosome. Parents were counseled regarding timely gonadectomy, fertility and other long term social issues. PMID:26023570

  15. Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome

    PubMed Central

    Dasgupta, Debdeep; Patra, Dipak Kumar; De, Angshuman; Mallick, Barindranath

    2015-01-01

    The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype. They usually present late with primary amenorrhea but delayed diagnosis increases chance of gonadal malignancy. Alertness for this entity is crucial as with early diagnosis such disorder can be managed more appropriately for a better future. We hereby describe a case of CAIS in an 8-year-old girl presented with bilateral inguinal swellings. Endocrinological analysis, radiological investigations and cytogenetic studies were done. Investigations revealed absence of female internal genitalia. Karyotyping and molecular study confirmed the presence of Y chromosome. Parents were counseled regarding timely gonadectomy, fertility and other long term social issues. PMID:26023570

  16. Estrogen enhances secretion of apolipoprotein B-100 containing lipoproteins by BeWo cells.

    PubMed

    Kamper, Miriam; Manns, Clara C; Plieschnig, Julia A; Schneider, Wolfgang J; Ivessa, N Erwin; Hermann, Marcela

    2015-05-01

    Although the early human embryo is capable of covering its cholesterol demand by endogenous synthesis, during later stages of development the fetus may become dependent on transplacental cholesterol transport. On one hand, this conclusion is based on the severe developmental abnormalities of embryos with mutations in the gene specifying the enzyme catalyzing the last step of cholesterol synthesis, 7-dehydrocholesterol reductase, causing Smith-Lemli-Opitz Syndrome. On the other hand, increased total maternal plasma cholesterol levels may reflect the requirement by the growing fetus and/or the placenta for cholesterol. Various molecules and complexes must cross the placental barrier consisting of trophoblasts and fetal endothelial cells to reach the fetal circulation. The de novo synthesis of apolipoprotein B (apoB)-containing lipoproteins coupled to secretion from trophoblasts towards the fetal side is one efficient pathway for cholesterol supply. ApoB and the microsomal triglyceride transfer protein (MTP) are essential components for the assembly of apoB-containing lipoproteins. The aim of this study was to evaluate functional properties of the human placental cell line BeWo as an in vitro model for placental synthesis of apoB-containing lipoproteins by focusing on components required for lipoprotein assembly and secretion. We demonstrate mRNA and protein production of apoB-100, MTP, and protein disulfide isomerase (PDI) in BeWo cells. In addition, metabolic radiolabeling and apoB-immunoprecipitation of cell extracts and media revealed that synthesis and secretion of apoB-containing lipoproteins are enhanced by estrogen. The expression of apoB-100, MTP, and PDI, and the estrogen-stimulated lipoprotein secretion by BeWo cells suggest that these cells are a useful system to study aspects of lipoprotein metabolism at the placental barrier. PMID:25765953

  17. Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

    PubMed

    Kim, Hye-Young H; Korade, Zeljka; Tallman, Keri A; Liu, Wei; Weaver, C David; Mirnics, Karoly; Porter, Ned A

    2016-05-16

    A small library of pharmacologically active compounds (the NIH Clinical Collection) was assayed in Neuro2a cells to determine their effect on the last step in the biosynthesis of cholesterol, the transformation of 7-dehydrocholesterol (7-DHC) to cholesterol promoted by 7-dehydrocholesterol reductase, DHCR7. Of some 727 compounds in the NIH Clinical Collection, over 30 compounds significantly increased 7-DHC in Neuro2a cells when assayed at 1 μM. Active compounds that increased 7-DHC with a Z-score of +3 or greater generally gave rise to modest decreases in desmosterol and increases in lanosterol levels. Among the most active compounds identified in the library were the antipsychotic, antidepressant, and anxiolytic compounds that included perospirone, nefazodone, haloperidol, aripiprazole, trazodone, and buspirone. Fluoxetine and risperidone were also active at 1 μM, and another 10 compounds in this class of pharmaceuticals were identified in the screen at concentrations of 10 μM. Increased levels of 7-DHC are associated with Smith-Lemli-Opitz syndrome (SLOS), a human condition that results from a mutation in the gene that encodes DHCR7. The SLOS phenotype includes neurological deficits and congenital malformations, and it is linked to a higher incidence of autism spectrum disorder. The significance of the current study is that it identifies common pharmacological compounds that may induce a biochemical presentation similar to SLOS. Little is known about the side effects of elevated 7-DHC postdevelopmentally, and the elevated 7-DHC that results from exposure to these compounds may also be a confounder in the diagnosis of SLOS. PMID:27097157

  18. Rett syndrome

    MedlinePlus

    Rett syndrome is a disorder of the nervous system that leads to developmental problems in children, especially in ... Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett ...

  19. 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

  20. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

    PubMed

    Wallis, Mathew; Tsurusaki, Yoshinori; Burgess, Trent; Borzi, Peter; Matsumoto, Naomichi; Miyake, Noriko; True, Deanna; Patel, Chirag

    2016-03-01

    We describe a male patient with dual genetic diagnoses of atypical hand-foot-genital syndrome (HFGS) and developmental delay. The proband had features of HFGS that included bilateral vesicoureteric junction obstruction with ectopic ureters, brachydactyly of various fingers and toes, hypoplastic thenar eminences, and absent nails on both 4th toes and right 5th toe. The atypical features of HFGS present were bilateral hallux valgus malformations and bilateral preaxial polydactyly of the hands. Chromosomal microarray analysis identified a de novo 0.5 Mb deletion at 2p16.3, including the first four exons of the NRXN1 gene. Whole exome sequencing and subsequent Sanger sequencing identified a de novo missense mutation (c.1123G>T, p.Val375Phe) in exon 2 of the HOXA13 gene, predicted to be damaging and located in the homeobox domain. The intragenic NRXN1 deletion is thought to explain his developmental delay via a separate genetic mechanism. © 2015 Wiley Periodicals, Inc. PMID:26590955

  1. Tosedostat in Combination With Cytarabine or Decitabine in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome

    ClinicalTrials.gov

    2014-06-09

    Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

  2. Newly Diagnosed

    MedlinePlus

    ... of transmitting HIV to others. Do I Have AIDS? Being HIV-positive does NOT necessarily mean you ... Children Newly Diagnosed: Older Adults Related Topics on AIDS.gov Stages of HIV Infection Immune System 101 ...

  3. 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 ...

  4. How Are Myelodysplastic Syndromes Diagnosed?

    MedlinePlus

    ... These tests are used first for diagnosis and classification and may be repeated later to tell if ... light. The instrument detects the light, and a computer counts the cells. This test may not be ...

  5. How Is Marfan Syndrome Diagnosed?

    MedlinePlus

    ... heart's valves and aorta. Magnetic Resonance Imaging and Computed Tomography Scans Magnetic resonance imaging (MRI) is a test ... create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take ...

  6. 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 ...

  7. Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes.

    PubMed

    Svobodova, Karla; Zemanova, Zuzana; Lhotska, Halka; Novakova, Milena; Podskalska, Lucie; Belickova, Monika; Brezinova, Jana; Sarova, Iveta; Izakova, Silvia; Lizcova, Libuse; Berkova, Adela; Siskova, Magda; Jonasova, Anna; Cermak, Jaroslav; Michalova, Kyra

    2016-03-01

    Complex karyotypes are seen in approximately 20% of patients with myelodysplastic syndromes (MDS) and are associated with a high risk of transformation to acute myeloid leukemia and poor outcomes in patients. Copy number neutral loss of heterozygosity (CN-LOH, i.e., both copies of a chromosomal pair or their parts originate from one parent) might contribute to increased genomic instability in the bone-marrow cells of patients with MDS. The pathological potential of CN-LOH, which arises as a clonal aberration in a proportion of somatic cells, consists of tumor suppressor gene and oncogene homozygous mutations. The aim of our study was to evaluate the frequency of CN-LOH at 17p in bone-marrow cells of newly diagnosed MDS patients with complex chromosomal aberrations and to assess its correlation with mutations in the TP53 gene (17p13.1). CN-LOH was detected in 40 chromosomal regions in 21 (29%) of 72 patients analyzed. The changes in 27 of the 40 regions identified were sporadic. The most common finding was CN-LOH of the short arm of chromosome 17, which was detected in 13 (18%) of 72 patients. A mutational analysis confirmed the homozygous mutation of TP53 in all CN-LOH 17p patients, among which two frameshift mutations are not registered in the International Agency for Research on Cancer TP53 Database. CN-LOH 17p correlated with aggressive disease (median overall survival 4 months) and was strongly associated with a complex karyotype in the cohort studied, which might cause rapid disease progression in high-risk MDS. No other CN-LOH region previously recorded in MDS or AML patients (1p, 4q, 7q, 11q, 13q, 19q, 21q) was detected in our cohort of patients with complex karyotype examined at the diagnosis of MDS. The LOH region appeared to be balanced (i.e., with no DNA copy number change) when examined with conventional and molecular cytogenetic methods. Therefore, a microarray that detects single-nucleotide polymorphisms is an ideal method with which to identify and further characterize CN-LOH. Our data should specify the prognosis and should lead to the identification of potential targets for therapeutic interventions. PMID:26851439

  8. 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 ...

  9. 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

  10. HELLP syndrome

    MedlinePlus

    ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10 to ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

  11. Marfan Syndrome

    MedlinePlus

    ... thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with ... diagnose Marfan syndrome. Your doctor may use your medical history, family ...

  12. Genotype-based databases for variants causing rare diseases.

    PubMed

    Lanthaler, Barbara; Wieser, Stefanie; Deutschmann, Andrea; Schossig, Anna; Fauth, Christine; Zschocke, Johannes; Witsch-Baumgartner, Martina

    2014-10-15

    Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which may be predicted by the genotype. Additional effects may be triggered by environmental factors, as well as genetic modifiers which could be nucleotide polymorphisms in related genes, e.g. maternal ApoE or ABCA1 genotypes which may have an influence on the phenotype of SLOS individuals. Here we report the establishment of genotype variation databases for various rare diseases which provide individual clinical phenotypes associated with genotypes and include data about possible genetic modifiers. These databases aim to be an easy public access to information on rare and private variants with clinical data, which will facilitate the interpretation of genetic variants. The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome). These genes have been selected because of our specific research interests in these rare and metabolic diseases. The aim of the database was to include all identified individuals with variants in these specific genes. Identical genotypes are listed multiple times if they were found in several patients, phenotypic descriptions and biochemical data are included as detailed as possible in view also of validating the proposed pathogenicity of these genotypes. For DHCR7 genetic modifier data (maternal APOE and ABCA1 genotypes) is also included. Databases are available at http://databases.lovd.nl/shared/genes and will be updated based on periodic literature reviews and submitted reports. PMID:25111118

  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. Chinese restaurant syndrome

    MedlinePlus

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  15. Another case of "European hantavirus pulmonary syndrome" with severe lung, prior to kidney, involvement, and diagnosed by viral inclusions in lung macrophages.

    PubMed

    Gizzi, M; Delaere, B; Weynand, B; Clement, J; Maes, P; Vergote, V; Laenen, L; Hjelle, B; Verroken, A; Dive, A; Michaux, I; Evrard, P; Creytens, D; Bulpa, P

    2013-10-01

    Puumala virus (PUUV) is considered a classic Old World etiologic agent of nephropathia epidemica (NE), or hemorrhagic fever with renal syndrome (HFRS). HFRS is considered to be distinct from hantavirus (cardio-)pulmonary syndrome (HPS or HCPS), described in the New World. Here, we report a severe case, which fulfilled most, if not all, Centers for Disease Control and Prevention (CDC) criteria for HPS, needing non-invasive ventilation and subsequent acute hemodialysis. However, the etiological agent was PUUV, as proved by serological testing, real-time polymerase chain reaction (PCR), and sequencing. Viral antigen was detected by specific anti-PUUV immunostaining, showing, for the first time, greenish intracytoplasmic inclusions in bronchoalveolar lavage (BAL) macrophages. This case definitely confirms that HPS can be encountered during PUUV infections. Interestingly, special findings could render the diagnosis easier, such as greenish homogeneous cytoplasmic inclusions, surrounded by a fine clear halo in BAL macrophages. Therefore, although the diagnosis remains difficult before the onset of renal involvement, the occurrence of severe respiratory failure mimicking community-acquired pneumonia must alert the clinician for possible HPS, especially in endemic areas. PMID:23670277

  16. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

    PubMed

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-07-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. Our study of a T18 specimen emphasizes the intricate interplay between bone and brain development in midline craniofacial abnormalities in general. PMID:26018729

  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. Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.

    PubMed

    Peraita-Ezcurra, Milena; Martínez-García, Mónica; Ruiz-Pérez, Víctor L; Sánchez-Gutiérrez, María Eugenia; Fenollar-Cortés, María; Vélez-Monsalve, Camilo; Ramos-Corrales, Carmen; Pastor, Ignacio; Santonja, Carlos; Trujillo-Tiebas, María José

    2012-05-10

    Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives. PMID:22406498

  19. Diagnosing Tic Disorders

    MedlinePlus

    ... Other Websites Information For... Media Policy Makers Diagnosing Tic Disorders Language: English Español (Spanish) Recommend on Facebook ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder For a person to be diagnosed with ...

  20. 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 ...

  1. 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 ...

  2. How Is Sarcoidosis Diagnosed?

    MedlinePlus

    ... page from the NHLBI on Twitter. How Is Sarcoidosis Diagnosed? Your doctor will diagnose sarcoidosis based on ... Content: NEXT >> Featured Video Living With and Managing Sarcoidosis 05/18/2011 This video—presented by the ...

  3. Genetics Home Reference: FG syndrome

    MedlinePlus

    ... family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ... Pembrey M, Moraine C, Briault S. FG syndrome: linkage analysis in two families supporting a new gene localization ...

  4. Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung’s Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster

    PubMed Central

    Szymońska, Izabela; Borgenvik, Thore Langfeldt; Karlsvik, Tina Margrethe; Halsen, Anders; Malecki, Bianka Kathryn; Saetre, Sindre Ervik; Jagła, Mateusz; Kruczek, Piotr; Talowska, Anna Madetko; Drabik, Grażyna; Zasada, Magdalena; Malecki, Marek

    2015-01-01

    Introduction Neuroblastoma (NB), Hirschsprung disease (HSCR), Congenital Central Hypoventilation Syndrome (CCHS), clinically referred as the NB-HSCR-CCHS cluster, are genetic disorders linked to mutations in the PHOX2B gene on chromosome 4p12. Specific Aim The specific aim of this project is to define the PHOX2B gene mutations as the genomic basis for the clinical manifestations of the NB-HSCR-CCHS cluster. Patient A one day old male patient presented to the Jagiellonian University Medical College (JUMC), American Children Hospital, neonatal Intensive Care Unit (ICU) due to abdominal distention, vomiting, and severe apneic episodes. With the preliminary diagnosis of the NB-HSCR-CCHS, the blood and tissue samples were acquired from the child, as well as from the child’s parents. All procedures were pursued in accordance with the Declaration of Helsinki, with the patient’s Guardian Informed Consent and the approval from the Institutional Review Board. Genetic/Genomic Methods Karyotyping was analyzed based upon Giemsa banding. The patient’s genomic DNA was extracted from peripheral blood and amplified by polymerase chain reaction. Direct microfluidic Sanger sequencing was performed on the genomic DNA amplicons. These procedures were pursued in addition to the routine clinical examinations and tests. Results G-banding showed the normal 46 XY karyotype. However, genomic sequencing revealed a novel, heterozygous deletion (8 nucleotides: c.699–706, del8) in exon 3 of the PHOX2B gene on chromosome 4. This led to the frame-shift mutation and malfunctioning gene expression product. Conclusion Herein, we report a novel PHOX2B gene mutation in the patient diagnosed with the NB-HSCR-CCHS cluster. The resulting gene expression product may be a contributor to the clinical manifestations of these genetic disorders. It adds to the library of the mutations linked to this syndrome. Consequently, we suggest that screening for the PHOX2B mutations becomes an integral part of genetic counseling, genomic sequencing of fetal circulating nucleic acids and / or genomes of circulating fetal cells prenatally, while preparing supportive therapy upon delivery, as well as on neonates' genomes of intubated infants, when breathing difficulties occur upon extubation. Further, we hypothesize that PHOX2B may be considered as a potential target for gene therapy. PMID:26798564

  5. How Is Long QT Syndrome Diagnosed?

    MedlinePlus

    ... of potassium or sodium. These conditions include the eating disorders anorexia nervosa and bulimia, excessive vomiting or diarrhea, ... This Content: NEXT >> Updated: September 21, 2011 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  6. 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.

  7. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  8. Guillain-Barre Syndrome

    MedlinePlus

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

  9. 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 ...

  10. How Is Hemophilia Diagnosed?

    MedlinePlus

    ... page from the NHLBI on Twitter. How Is Hemophilia Diagnosed? If you or your child appears to ... have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. ...

  11. How Is Hemochromatosis Diagnosed?

    MedlinePlus

    ... Health Topics » Hemochromatosis » How Is Hemochromatosis Diagnosed? Explore Hemochromatosis What Is... Other Names Causes Who Is At Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics ...

  12. Eagle syndrome.

    PubMed

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

    2014-01-01

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

  13. Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

    ERIC Educational Resources Information Center

    Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

    2012-01-01

    The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome;…

  14. 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…

  15. 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

  16. Anorectal malformations and Down syndrome.

    PubMed

    Zlotogora, J; Abu-Dalu, K; Lernau, O; Sagi, M; Voss, R; Cohen, T

    1989-11-01

    During 1980 to 1986, 89 children with Down syndrome and 42 with imperforate anus were diagnosed among 64,870 liveborn infants in the Jewish population of Jerusalem. Two of the children had both Down syndrome and imperforate anus. This indicates a high incidence of imperforate anus among children with Down syndrome (2.2%). PMID:2531980

  17. [Kabuki syndrome].

    PubMed

    Petersen, Rikke Børthy; Lindholm, Pernille; Bonde, Christian T

    2010-05-01

    A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation. PMID:20444412

  18. How Are Genetic Conditions Diagnosed?

    MedlinePlus

    ... Consultation How are genetic conditions diagnosed? How are genetic conditions diagnosed? A doctor may suspect a diagnosis ... and advocacy resources. For more information about diagnosing genetic conditions: Genetics Home Reference provides information about genetic ...

  19. Newly Diagnosed: Older Adults

    MedlinePlus

    ... Children Newly Diagnosed: Older Adults Related Topics on AIDS.gov Aging with HIV/AIDS National HIV/AIDS ... an Emerging Challenge Last revised: 07/10/2015 AIDS.gov HIV/AIDS Basics • Federal Resources • Using New ...

  20. How Is Angina Diagnosed?

    MedlinePlus

    ... heart failure . It also can show signs of lung disorders and other causes of symptoms not related to CHD. However, a chest x ray alone is not enough to diagnose angina or CHD. Coronary Angiography and Cardiac Catheterization Your doctor may recommend coronary ...

  1. 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…

  2. 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 ...

  3. 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

  4. The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography

    PubMed Central

    Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat

    2012-01-01

    Summary Background: The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Case Report: Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Conclusions: Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening. PMID:23569502

  5. Syndromic Scoliosis

    MedlinePlus

    ... Neurofibromatosis (NF) Noonan Syndrome VATER/VACTERL Syndrome Angelman Syndrome Rett Prader Willi Osteogenesis Imperfecta Trisomy 21 (Down's Syndrome) Symptoms Highly variable based on underlying syndrome and ...

  6. The Score Model Containing Chinese Medicine Syndrome Element of Blood Stasis Presented a Better Performance Compared to APRI and FIB-4 in Diagnosing Advanced Fibrosis in Patients with Chronic Hepatitis B

    PubMed Central

    Chi, Xiao-Ling; Shi, Mei-Jie; Xiao, Huan-Ming; Xie, Yu-Bao; Cai, Gao-Shu

    2016-01-01

    This study aims to explore a useful noninvasive assessment containing TCM syndrome elements for liver fibrosis in CHB patients. The demographic, clinical, and pathological data were retrospectively collected from 709 CHB patients who had ALT less than 2 times the upper limit of normal from April 2009 to October 2012. Logistical regression and area under receiver-operator curve (AUROC) were used to determine the diagnostic performances of simple tests for advanced fibrosis (Scheuer stage, F ≥ 3). Results showed that the most common TCM syndrome element observed in this CHB population was dampness and Qi stagnation, followed by blood stasis, by heat, and less by Qi deficiency and Yin deficiency. The logistical regression analysis identified AST ≥ 35 IU/L, PLT ≤ 161 × 109/L, and TCM syndrome element of blood stasis as the independent risk factors for advanced fibrosis. Therefore, a score model containing these three factors was established and tested. The score model containing blood stasis resulted in a higher AUC (AUC = 0.936) compared with APRI (AUC = 0.731) and FIB-4 (AUC = 0.709). The study suggested that the score model containing TCM syndrome element of blood stasis could be used as a useful diagnostic tool for advanced fibrosis in CHB patients and presented a better performance compared to APRI and FIB-4. PMID:26904141

  7. Diagnosing ADHD in Adolescence

    PubMed Central

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

    2014-01-01

    Objective This study examines adolescent-specific practical problems associated with current practice parameters for diagnosing ADHD in order to inform recommendations for the diagnosis of ADHD in adolescents. Specifically, issues surrounding the use of self vs. informant ratings, diagnostic threshold, and retrospective reporting of childhood symptoms were addressed. Method Using data from the Pittsburgh ADHD Longitudinal Study (PALS), parent, teacher, and self-reports of symptoms and impairment were examined for 164 adolescents with a childhood diagnosis of ADHD (age M=14.74) and 119 demographically similar non-ADHD controls (total N=283). Results Results indicated that 70% of the well-diagnosed childhood ADHD group continued to meet DSM-IV-TR diagnostic criteria for ADHD in adolescence; however, an additional 17% possessed clinically significant impairment in adolescence, but did not qualify for a current ADHD diagnosis. The optimal source of information was combined reports from the parent and a core academic teacher. Adolescents with ADHD met criteria for very few symptoms of hyperactivity/impulsivity, suggesting a need to revisit the diagnostic threshold for these items. Additionally, emphasis on impairment, rather than symptom threshold improved identification of adolescents with a gold-standard childhood diagnosis of ADHD and persistent ADHD symptoms. Parent retrospective reports of baseline functioning, but not adolescent self-reports, were significantly correlated with reports collected at baseline in childhood. Conclusions We offer recommendations for diagnosing ADHD in adolescence based upon these findings. PMID:22148878

  8. 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)

  9. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

    PubMed

    Azzi, Salah; Steunou, Virginie; Rousseau, Alexandra; Rossignol, Sylvie; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Marilyne; Gicquel, Christine; Le Bouc, Yves; Netchine, Irène

    2011-02-01

    Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated with two clinical disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS), characterized by fetal overgrowth and a high risk of tumors, and Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth restriction. Until recently, we have been using Southern blotting for the diagnosis of RSS and BWS. We describe here a powerful quantitative technique, allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), for the diagnosis of these two complex disorders. We first checked the specificity of the probes and primers used for ASMM RTQ-PCR. We then carried out statistical validation for this method, on both retrospective and prospective populations of patients. This analysis demonstrated that ASMM RTQ-PCR is more sensitive than Southern blotting for detecting low degree of LOI. Moreover, ASMM RTQ-PCR is a very rapid, reliable, simple, safe, and cost effective method. PMID:21280150

  10. Trends in Autism Spectrum Disorder Diagnoses: 1994-2007

    ERIC Educational Resources Information Center

    Rosenberg, Rebecca E.; Daniels, Amy M.; Law, J. Kiely; Law, Paul A.; Kaufmann, Walter E.

    2009-01-01

    We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ["PDD"] and autism spectrum disorder ["ASD"], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007.…

  11. How Is Lactose Intolerance Diagnosed?

    MedlinePlus

    ... Information Clinical Trials Resources and Publications How is lactose intolerance diagnosed? Skip sharing on social media links ... people think that they or their children are lactose intolerant without being tested or diagnosed. 1 As ...

  12. How Are Varicose Veins Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Are Varicose Veins Diagnosed? Doctors often diagnose varicose veins based on a physical exam alone. Sometimes tests ... other conditions. Specialists Involved If you have varicose veins, you may see a vascular medicine specialist or ...

  13. 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 ...

  14. 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 ...

  15. Usher Syndrome

    MedlinePlus

    ... Rare Diseases Information Center (GARD) Print friendly version Usher syndrome Table of Contents Overview Symptoms Cause Inheritance ... pigmentosa syndrome Dystrophia retinae pigmentosa-dysostosis syndrome Graefe-Usher syndrome Hallgren syndrome Usher's syndrome Related Diseases Usher ...

  16. Kartagener syndrome.

    PubMed

    Skeik, Nedaa; Jabr, Fadi I

    2011-01-01

    Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure. PMID:21403791

  17. Antiphospholipid syndrome

    PubMed Central

    Espinosa, Gerard; Cervera, Ricard

    2008-01-01

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

  18. 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.

  19. Diagnosing a PDS microdensitometer

    NASA Technical Reports Server (NTRS)

    Vanaltena, W.; Lee, J. F.; Wandersee, A.

    1984-01-01

    A number of diagnostic tests are developed for the Photometric Data System PDS 2020G microdensitometer to monitor its performance and to isolate various electromechanical problems. A number of tests which help to diagnose problems with the photometer, positional accuracy and data collection are described. The tests include: (1) scanning a razor blade edge to study the response of the photometer and zero point losses in the coordinate system, (2) scanning a long straight line to evaluate the drunkness of the stage motions, (3) scanning photometric step wedge calibrations to study the response of the photometer, and (4) measurement of a series of high signal to noise plates of the same region of the sky to evaluate the overall performance of the microdensitometer. A variety of electronic tests to isolate electromechanical problems are also performed.

  20. Diagnosing a PDS microdensitometer

    NASA Astrophysics Data System (ADS)

    Vanaltena, W.; Lee, J. F.; Wandersee, A.

    1984-07-01

    A number of diagnostic tests are developed for the Photometric Data System PDS 2020G microdensitometer to monitor its performance and to isolate various electromechanical problems. A number of tests which help to diagnose problems with the photometer, positional accuracy and data collection are described. The tests include: (1) scanning a razor blade edge to study the response of the photometer and zero point losses in the coordinate system, (2) scanning a long straight line to evaluate the drunkness of the stage motions, (3) scanning photometric step wedge calibrations to study the response of the photometer, and (4) measurement of a series of high signal to noise plates of the same region of the sky to evaluate the overall performance of the microdensitometer. A variety of electronic tests to isolate electromechanical problems are also performed.

  1. Prenatally diagnosed fetal ventriculomegaly; prognosis and outcome.

    PubMed

    den Hollander, N S; Vinkesteijn, A; Schmitz-van Splunder, P; Catsman-Berrevoets, C E; Wladimiroff, J W

    1998-06-01

    The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined fetal ventriculomegaly at 20-38 weeks' gestation were reviewed, together with follow-up data on postnatal outcome at a mean of 29 months after delivery. Sonographic measurements included head circumference, cerebral lateral ventricular diameter at the anterior and posterior horn level, and hemisphere diameter. Classification of psycho-motor development consisted of assessment of motoric behaviour, speech, communication and social skills ('Van Wiechen' classification). Perinatal mortality rate was 38 per cent, of which half were directly associated with cephalocentesis. Only the ventricle/hemisphere ratio for the anterior and posterior horn of the lateral cerebral ventricles was significantly higher among perinatal deaths than amongst the survivors. Within the subset of survivors (n = 26), psycho-motor development was normal in 46 per cent. Postnatal examination revealed syndrome anomalies in five infants, of which four were associated with psycho-motor retardation. Prenatally diagnosed ventriculomegaly has a poor postnatal outcome with more than 50 per cent of the live-born infants demonstrating abnormal psycho-motor development. The predictive value of fetal biometric measurements is poor. The presence of syndromal anomalies emphasizes the need for genetic counselling in future pregnancies. PMID:9664600

  2. Gorlin-Goltz syndrome

    PubMed Central

    Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

    2009-01-01

    Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

  3. A case of acute carpal tunnel syndrome.

    PubMed

    Barbee, George A; Haley, Chelsey L; Berry-Cabn, Cristbal 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 of Acanthamoeba keratitis].

    PubMed

    Trnková, K; Bieliková, A; Izák, M; Klement, C

    2009-10-01

    Acanthamoeba keratitis is rare corneal disease, its etiology is caused by amoebae of the Acanthamoeba spp. In this paper, the newest findings about the diagnostic and treatment procedures of the disease and epidemiology and preventive issues from the point of public health are presented. The article presents results of the water quality monitoring (according to the Acanthamoeba which is possible to cultivate at 36 degrees C and 44 degrees C) in man-made swimming pools during the period 2004-2008 at the Department of environmental biology of the Regional Public Health Institute in Banská Bystrica, Slovakia, E.U. The examination methods present the techniques of the clinical sampling and taking samples from the environment. The results underline the use of the new effective criteria in controlling of recreational resorts as well as changes of the legal criteria for the water quality used by the public. The results show that the presence of Acanthamoeba spp. in the environment is common, so the water monitoring is perceived as substantial preventive issue to prevent the disease to emerge. The collaboration between the public heath departments and ophthalmologists during the examination of the clinical and environmental samples may help to prevent and diagnose the Acanthamoeba keratitis. PMID:20052817

  5. KID syndrome: response to acitretin.

    PubMed

    Sahoo, Bijaylaxmi; Handa, Sanjeev; Kaur, Inderjeet; Radotra, Bishan Das; Kumar, Bhushan

    2002-08-01

    KID syndrome is rare. We report a 17-year-old girl who presented with universally ichthyotic red hue on the face, trunk, and extremities along with deafness and keratitis since childhood. She was diagnosed with KID syndrome. Treatment with acitretin cleared the hyperkeratotic ichthyotic lesions with little effect on the cornea or hearing. Acitretin seems to be a promising new treatment in KID syndrome. PMID:12227483

  6. Diagnosable systems for intermittent faults

    NASA Technical Reports Server (NTRS)

    Mallela, S.; Masson, G. M.

    1978-01-01

    The fault diagnosis capabilities of systems composed of interconnected units capable of testing each other are studied for the case of systems with intermittent faults. A central role is played by the concept of t(i)-fault diagnosability. A system is said to be t(i)-fault diagnosable when it is such that if no more than t(i) units are intermittently faulty then a fault-free unit will never be diagnosed as faulty and the diagnosis at any time is at worst incomplete. Necessary and sufficient conditions for t(i)-fault diagnosability are proved, and bounds for t(i) are established. The conditions are in general more restrictive than those for permanent-fault diagnosability. For intermittent faults there is only one testing strategy (repetitive testing), and consequently only one type of intermittent-fault diagnosable system.

  7. Ischemic Bilateral Opercular Syndrome

    PubMed Central

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

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

  8. Redefining Rowell's syndrome.

    PubMed

    Zeitouni, N C; Funaro, D; Cloutier, R A; Gagné, E; Claveau, J

    2000-02-01

    Rowell's syndrome is believed to be a distinct and rare clinical entity originally described as lupus erythematosus associated with erythema multiforme-like lesions with immunological findings of speckled antinuclear antibodies, anti-La antibodies and a positive test for rheumatoid factor. We report two additional patients with Rowell's syndrome and review all the diagnostic criteria found in the literature. In view of the inconsistent findings of some of the diagnostic features, we propose that major and minor criteria be used to diagnose Rowell's syndrome. PMID:10730772

  9. 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

  10. Scheie syndrome

    MedlinePlus

    ... as MPS I S. See also: MPS I H (Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) ... individuals with Scheie syndrome, and also Hurler and Hurler-Scheie syndromes. Early detection and treatment of spinal cord compression ...

  11. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  12. Carpal Tunnel Syndrome

    MedlinePlus

    ... affected and will not perform normally during the test. In recent years, diagnostic ultrasonography and MRI have been used to help diagnose carpal tunnel syndrome and exclude other causes of hand and wrist symptoms. These technologies can identify swelling of the median nerve and ...

  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. 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 ...

  15. How Is Aplastic Anemia Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...

  16. Gastroesophageal reflux diagnosed by occlusal splint tintion.

    PubMed

    Cebrián-Carretero, José Luis; López-Arcas-Calleja, José María

    2006-01-01

    The gastroesophageal reflux (GER) disease is a very frequent digestive disorder, mainly characterised by the reflux of the gastric acidic content to the esophage in abnormal quantities. There are different situations that favour this situation but almost in all of them rely an incompetence of the esophagic sphincter. The clinical consequences are many, including oral manifestations. Among all of them the most frequent is the esophagitis followed by symptoms at the pharynx or larynx and finally, the oral cavity. At this level fundamentally we will find enamel and oral mucosa erosions. We report the case of a patient who was indirectly diagnosed of her esophague disease by the observation of the alterations in the occlusal splint induced by the gastric reflux. We review the literature concerning the above topic and its possible association with the miofascial syndrome. PMID:16388289

  17. 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

  18. The Prevalence of Metabolic Syndrome Using Three Different Diagnostic Criteria among Low Earning Nomadic Kazakhs in the Far Northwest of China: New Cut-Off Points of Waist Circumference to Diagnose MetS and Its Implications

    PubMed Central

    Guo, Heng; Liu, Jiaming; Zhang, Jingyu; Ma, Rulin; Ding, Yusong; Zhang, Mei; He, Jia; Xu, Shangzhi; Li, Shugang; Yan, Yizhong; Mu, Lati; Rui, Dongsheng; Niu, Qiang; Guo, Shuxia

    2016-01-01

    Background Although the epidemic of metabolic syndrome (MetS) has aroused wide public concern, most studies on MetS tend to examine urban and high income settings, and few studies cover nomadic areas and low earning populations. This research aims to investigate the prevalence of MetS and explore the cut-off point of waist circumference in a nomadic minority typical of low income populations in the remote northwest region of China. Methods A cross-sectional study was performed in a representative sample of 3900 Kazakh adults aged 18–84 years from 2009–2010. Three widely used criteria (ATP III\\IDF\\JIS) were employed to estimate the prevalence of MetS in Kazakhs to compare them with other populations. Receiver operator characteristic (ROC) curve analysis was used to explore the optimal cut-off values of waist circumference. Results The age-adjusted prevalence of MetS was 13.8%, 20.9%, and 24.8% based on the ATP III, IDF, and JIS criteria, respectively. The prevalence of MetS was higher in women and increased with age. Except for reduced HDL-cholesterol, the risk of other components of MetS increased with waist circumference enlargement. The cut-off point of waist circumference in screening at least two other components of MetS was 88 cm in men (Sensitivity = 61.1%, Specificity = 62.1%, ROC Curve Distance = 0.54) and 83 cm in women (Sensitivity = 60.0%, Specificity = 59.6%, ROC Curve Distance = 0.57). Conclusion The prevalence of MetS in Kazakhs is higher than the national level of China and falls in between the Euro-American and Asia levels, as their cut-off points of waist circumference differ from that recommended for Chinese. We suggest a cost-effective strategy to screen for MetS and prevent cardiovascular disease using new cut-off points of waist circumference in low earning nomadic Kazakhs. PMID:26901035

  19. [Guideline-based diagnosis of dementia syndrome].

    PubMed

    Hofmann, W

    2012-06-01

    This review presents criteria for diagnosing the "syndrome of dementia" based on the S3 guidelines of the AWMF ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften") in Germany. They represent the best standards of evidence-based international knowledge, in light of the National Institute for Health and Clinical Excellent (NICE), the Scottish Intercollegiate Guidelines Network (SIGN), etc. Diagnosing dementia as early as possible is essential. All the current guidelines specify a two-step procedure: the first step entails performing a comprehensive diagnosis of the syndrome, while the second step involves diagnosing the precise etiology. The following article focuses on the first step: diagnosis of the syndrome. PMID:22622679

  20. 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

  1. 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

  2. Laugier-Hunziker syndrome--Case report.

    PubMed

    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

  3. Diagnosing Mitochondrial Disorder without Sophisticated Means.

    PubMed

    Finsterer, Josef; Frank, Marlies

    2015-10-01

    Mitochondrial disorders (MIDs) require biochemical or genetic investigations for being diagnosed. In some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. The patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. The history was positive for arterial hypertension, hypertrophic cardiomyopathy with systolic dysfunction, diabetes-type 2, mild renal insufficiency, thyroiditis, and polyneuropathy. Instrumental investigations additionally revealed hepatopathy, hyperlipidemia, hyperuricemia, bifascicular block, white matter lesions, and subacute stroke. Systolic dysfunction resolved upon adequate cardiac treatment. On hospital day 11 the patient suddenly developed asystole. He was successfully resuscitated but died a few hours later from acute myocardial infarction. Surprisingly, a more extensive family history was positive for myopathy (patient, brother, daughter), neuropathy (patient), hypoacusis (patient), Parkinson syndrome (mother), spasticity (son), diabetes (patient, son), renal failure (patient), and generalized atherosclerosis (patient). The individual and family history was strongly suggestive of an MID. In conclusion, individual and family history may strongly suggest MID. Phenotypic variability may be high between family members affected by an MID. MID may be associated with an increasing atherosclerotic risk lastly resulting in coronary heart disease and death. PMID:26615382

  4. 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 ...

  5. Understanding Prostate Cancer: Newly Diagnosed

    MedlinePlus

    ... About Prostate Cancer About the Prostate Risk Factors Prevention Symptoms Early Detection & Screening Living With Prostate Cancer Newly Diagnosed Treatment Options Side Effects Recurrence Advanced Disease Radiopharmaceutical Therapy Helpful Resources Patient Support ...

  6. How Is Adrenal Cancer Diagnosed?

    MedlinePlus

    ... cancer staged? How is adrenal cancer diagnosed? Medical history and physical exam The first step is for ... detected by the transducer and analyzed by a computer to create an image of these tissues and ...

  7. How Is Polycythemia Vera Diagnosed?

    MedlinePlus

    ... page from the NHLBI on Twitter. How Is Polycythemia Vera Diagnosed? Polycythemia vera (PV) may not cause signs or symptoms ... gums. If your doctor confirms that you have polycythemia, the next step is to find out whether ...

  8. How Is Atrial Fibrillation Diagnosed?

    MedlinePlus

    ... event monitors start automatically when they sense abnormal heart rhythms. You can wear an event monitor for weeks or until symptoms occur. Stress Test Some heart problems are easier to diagnose when your heart ...

  9. 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 ...

  10. How Is Cardiogenic Shock Diagnosed?

    MedlinePlus

    ... the heart muscle caused by poor blood flow. Chest X Ray A chest x ray takes pictures ... help diagnose cardiogenic shock, including: Arterial blood gas measurement. For this test, a blood sample is taken ...

  11. Auriculotemporal Syndrome (Frey Syndrome).

    PubMed

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  12. Convergence of parent checklists and child psychiatric diagnoses.

    PubMed

    Steinhausen, H C; Göbel, D

    1987-03-01

    This study examined the correlation between the Childrens' Behavior Questionnaire by Rutter, Tizard, and Whitmore (1970) and clinical diagnoses in a total of 1,468 in- and outpatients. The following diagnoses were considered: conduct disorder, emotional disorder, mixed disorder of conduct and emotions, and the hyperkinetic syndrome. In general, correlations were low, but subscores indicating conduct or neurotic disorders had somewhat higher correlation with these respective disorders than the hyperactivity subscore. Sensitivity figures (i.e., percentage of true positives) were moderate to low, while specificity figures (i.e., percentage of true negatives) were high. It is concluded that convergence of parent checklists and child psychiatric diagnoses in unselected samples is only moderate. PMID:3571736

  13. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    PubMed

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc. PMID:26789280

  14. Sanfilippo syndrome

    MedlinePlus

    ... as MPS III. See also: MPS I H (Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) ... unlike the cloudy corneas seen in persons with Hurler syndrome (MPS I H). Neurological testing will reveal signs ...

  15. Rett Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Rett Syndrome Information Page Condensed from Rett Syndrome Fact Sheet ... Clinical Trials Organizations Publicaciones en Español What is Rett Syndrome? Rett syndrome is a childhood neurodevelopmental disorder that ...

  16. Tourette Syndrome

    MedlinePlus

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Tourette Syndrome KidsHealth > For Kids > Tourette Syndrome Print A A ... Act Around Someone Who Has It? What Is Tourette Syndrome? Tourette syndrome is a condition that affects a ...

  17. Antiphospholipid Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  18. The Nelson's syndrome... revisited.

    PubMed

    Assié, Guillaume; Bahurel, Hélène; Bertherat, Jérôme; Kujas, Michèle; Legmann, Paul; Bertagna, Xavier

    2004-01-01

    Adrenalectomy is a radical therapeutic approach to control hypercortisolism in some patients with Cushing's disease. However it may be complicated by the Nelson's syndrome, defined by the association of a pituitary macroadenoma and high ACTH secretion after adrenalectomy. This definition has not changed since the end of the fifties. Today the Nelson's syndrome must be revisited with new to criteria using more sensitive diagnostic tools, especially the pituitary magnetic resonance imaging. In this paper we will review the pathophysiological aspects of corticotroph tumor growth, with reference to the impact of adrenalectomy. The main epidemiological data on the Nelson's syndrome will be presented. More importantly, we will propose a new pathophysiological and practical approach to this question which attempts to evaluate the Corticotroph Tumor Progression after adrenalectomy, rather than to diagnose the Nelson's syndrome. We will discuss the consequences for the management of Cushing's disease patients after adrenalectomy, and will also draw some perspectives. PMID:16132203

  19. 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

  20. Differential Diagnosis of Kleine-Levin Syndrome.

    PubMed

    Millichap, J Gordon

    2015-03-01

    Investigators at Pitie-Salpetriere and Robert Debre Hospitals, and other centers in France, evaluated consecutive patients referred for suspected Kleine-Levin (KLS) syndrome, detailed differential diagnoses, and examined characteristics of patients with prolonged (>30 days) episodes. PMID:26933566

  1. Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

    PubMed

    Malaki, Majid; Rafeey, Mandana

    2012-01-01

    In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months . PMID:24829636

  2. Psychiatric diagnoses, trauma, and suicidiality

    PubMed Central

    Floen, Silje K; Elklit, Ask

    2007-01-01

    Background This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. Methods During two months, all consecutive patients (n = 139) in a psychiatric hospital in Western Norway were interviewed (response rate 72%). Results Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma for longer periods of time. Only 7% acquired a PTSD diagnosis. The comorbidity of PTSD and other psychiatric diagnoses were 78%. A number of diagnoses were associated with specific traumas. Sixty-seven percent of the patients reported suicidal thoughts in the month prior to intake; thirty-one percent had attempted suicide in the preceding week. Suicidal ideation, self-harming behaviour, and suicide attempts were associated with specific traumas. Conclusion Traumatised patients appear to be under- or misdiagnosed which could have an impact on the efficiency of treatment. PMID:17448229

  3. Safety Study of AG-120 or AG-221 in Combination With Induction and Consolidation Therapy in Patients With Newly Diagnosed Acute Myeloid Leukemia With an IDH1 and/or IDH2 Mutation

    ClinicalTrials.gov

    2016-04-27

    Newly Diagnosed Acute Myeloid Leukemia (AML); Untreated AML; AML Arising From Myelodysplastic Syndrome (MDS); AML Arising From Antecedent Hematologic Disorder (AHD); AML Arising After Exposure to Genotoxic Injury

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

    MedlinePlus

    ... clinical trials, guidance for clinical researchers Health Education Campaigns & Programs Safe to Sleep, Media-Smart Youth, Maternal/Child Health Education Program NICHD Publications Order/print info for the public, providers, educators, researchers Scientific Research Planning Scientific activities, ...

  5. How Is Fanconi Anemia Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Fanconi Anemia Diagnosed? People who have Fanconi anemia (FA) are born with the disorder. They may ... questions about: Any personal or family history of anemia Any surgeries you’ve had related to the ...

  6. How Is Hodgkin Disease Diagnosed?

    MedlinePlus

    ... cases it might not remove enough of a sample to diagnose Hodgkin disease (or to determine which type it is). Most doctors do not use needle ... and more biopsies are needed. Looking at the samples under the microscope ... Hodgkin disease (and what type it is), but sometimes further lab tests are ...

  7. Associations among Major Psychiatric Diagnoses.

    ERIC Educational Resources Information Center

    Wolf, Abraham W.; And Others

    1988-01-01

    Examined the frequency and associations of multiple diagnoses in 205 psychiatric inpatients, assessing past and current episodes of illness. Over one-half of the sample received more than one diagnosis. Alcoholism, antisocial personality, and drug dependence formed one group; primary depression, primary mania, and secondary affective disorder,

  8. The slipping rib syndrome: A case report

    PubMed Central

    van Delft, E.A.K.; van Pul, K.M.; Bloemers, F.W.

    2016-01-01

    We present a case report and review of literature about slipping rib syndrome, a syndrome rarely recognized and often un or misdiagnosed. In literature there is no clear consensus about the diagnosis and treatment. We present a case of a 47 year old man who was diagnosed with slipping rib syndrome after a cycling incident 8 years ago. Also, we developed a flow chart according the diagnostic and therapeutic steps in the treatment of slipping rib syndrome. Central massage Knowledge and treatment of the slipping rib syndrome can prevent chronic complaints and unnecessary comprehensive treatment. PMID:27082995

  9. Hajdu Cheney Syndrome

    PubMed Central

    Samuel, Shini Susan; Shetty, Shrinath; Arunachal, Gautham; Koshy, Santosh

    2016-01-01

    Hajdu-Cheney Syndrome is a rare genetic disorder characterised by progressive focal bone destruction. It is known to be an autosomal dominant disorder but there have been reports of sporadic cases as well. Although the disease manifestation is found to begin from birth, it is most often not diagnosed until adolescence or adulthood. It could be due to the rarity of the condition and the variation of the disease manifestation at different age groups. We report a case of Hajdu-Cheney Syndrome in a 26-year-old male who presented with severe periodontitis and premature loss of teeth. The other characteristic features included craniofacial dysmorphism, abnormalities of the digits and dental anomalies. Patients with craniofacial dysmorphism along with dental abnormalities should be thoroughly examined for any underlying systemic disorder. A team of specialists may be able to diagnose this condition before the disease is advanced. PMID:27042504

  10. Chronic Exertional Compartment Syndrome.

    PubMed

    Braver, Richard T

    2016-04-01

    Increased tissue pressure within a fascial compartment may be the result from any increase in volume within its contents, or any decrease in size of the fascial covering or its distensibility. This may lead to symptoms of leg tightness, pain or numbness brought about by exercise. There are multiple differential diagnoses of exercise induced leg pain and the proper diagnoses of chronic exertional compartment syndrome (CECS) is made by a careful history and by exclusion of other maladies and confirmed by compartment syndrome testing as detailed in this text. Surgical fasciotomies for the anterior, lateral, superficial and deep posterior compartments are described in detail along with ancillary procedures for chronic shin splints that should allow the athlete to return to competitive activity. PMID:27013413

  11. 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…

  12. Chronic Fatigue Syndrome

    PubMed Central

    Leyton, Edward; Pross, Hugh

    1992-01-01

    To determine the effect of certain herbal and homeopathic preparations on symptoms, lymphocyte markers, and cytotoxic function of the lymphocytes in patients with chronic fatigue syndrome, we studied six outpatients diagnosed with the disease by their family physicians. Patients were given herbal and homeopathic preparations after a 3-week symptom-recording period. After treatment, symptoms were again recorded. Blood samples were taken before and after treatment. None of the values showed any significant change after treatment. PMID:21221272

  13. 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

  14. At home with Down syndrome and gender.

    PubMed

    Wong, Sophia Isako

    2002-01-01

    I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives. PMID:14682339

  15. Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management

    PubMed Central

    Kumar, Niraj; Rizek, Philippe; Jog, Mandar

    2016-01-01

    Background Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Methods A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. Results There have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. Discussion NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington’s disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success. PMID:27022507

  16. Fever-Induced Brugada Syndrome

    PubMed Central

    Dahal, Binaya Raman; Gitler, Bernard

    2015-01-01

    Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever. PMID:26425637

  17. Acute spontaneous tumor lysis syndrome.

    PubMed

    Jasek, A M; Day, H J

    1994-10-01

    An 83-year-old woman with no previous history of malignancy was admitted to our institution with weakness and anemia and subsequently developed acute tumor lysis syndrome secondary to newly diagnosed Burkitt's leukemia/lymphoma. This syndrome has been previously described in patients with hematologic malignancies; however, its development has been related to the administration of chemotherapy, steroids, or radiotherapy. The spontaneous occurrence of tumor lysis syndrome has not been previously reported; however, Cohen et al. [Am J Med 58:486-491, 1980] report 8 of 37 patients with "clinically insignificant pretreatment derangements" of serum potassium, phosphate, and calcium. PMID:8092128

  18. Psoriasis and Metabolic Syndrome

    PubMed Central

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

    2015-01-01

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

  19. Paraneoplastic Syndromes

    MedlinePlus

    ... fine motor coordination, slurred speech, memory loss, vision problems, sleep disturbances, dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome, stiff-person syndrome, encephalomyelitis, myasthenia ...

  20. Malabsorption Syndromes

    MedlinePlus

    ... If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. This happens after surgery to remove ...

  1. 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 ...

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

    DOEpatents

    Smith, Desmond J.; Rubin, Edward M.

    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. Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl.

    PubMed

    Haghshenas, Zahra; Tajziehchi, Leila; Ghavami, Fakhredin

    2014-08-01

    Michelin tire baby syndrome is a rare syndrome, diagnosed clinically by multiple circumferential skin folds. Multiple noncutaneous anomalies have been described with this syndrome. We report a case of Michelin tire baby syndrome with congenital panhypopituitarism. To date, there is no report of association between these two disorders. PMID:25065283

  4. Turner syndrome with primary hyperparathyroidism

    PubMed Central

    Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young

    2013-01-01

    Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5). Ultrasound and 99mTc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia. PMID:24904858

  5. Turner syndrome with primary hyperparathyroidism.

    PubMed

    Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young; Yoo, Han-Wook

    2013-06-01

    Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5). Ultrasound and (99m)Tc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia. PMID:24904858

  6. 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

  7. 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

  8. The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

    PubMed Central

    Huson, S M; Rodgers, C S; Hall, C M; Winter, R M

    1990-01-01

    A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition. This case raises the question as to whether the Baller-Gerold syndrome can be considered as a distinct entity. It is suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and that known Roberts syndrome survivors are reviewed for signs of craniostenosis. Images PMID:2359099

  9. Racial/ethnic disparities in diagnoses of HIV/AIDS--33 states, 2001-2005.

    PubMed

    2007-03-01

    During 2001-2004, blacks accounted for 51% of newly diagnosed human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) infections in the United States. This report updates HIV/AIDS diagnoses during 2001-2005 among black adults and adolescents and other racial/ethnic populations reported to CDC through June 2006 by 33 states that had used confidential, name-based reporting of HIV and AIDS cases since at least 2001. Of the estimated 184,991 adult and adolescent HIV infections diagnosed during 2001-2005, more (51%) occurred among blacks than among all other racial/ethnic populations combined. Most (62%) new HIV/AIDS diagnoses were among persons aged 25-44 years; in this age group, blacks accounted for 48% of new HIV/AIDS diagnoses. New interventions and mobilization of the broader community are needed to reduce the disproportionate impact of HIV/AIDS on blacks in the United States. PMID:17347642

  10. 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

  11. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

    Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

  12. Tourette syndrome.

    PubMed

    Cavanna, Andrea E; Termine, Cristiano

    2012-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder consisting of multiple motor and one or more vocal/phonic tics. TS is increasingly recognized as a common neuropsychiatric disorder usually diagnosed in early childhood and comorbid neuropsychiatric disorders occur in approximately 90% of patients, with attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being the most common ones. Moreover, a high prevalence of depression and personality disorders has been reported. Although the mainstream of tic management is represented by pharmacotherapy, different kinds of psychotherapy, along with neurosurgical interventions (especially deep brain stimulation, DBS) play a major role in the treatment of TS. The current diagnostic systems have dictated that TS is a unitary condition. However, recent studies have demonstrated that there may be more than one TS phenotype. In conclusion, it appears that TS probably should no longer be considered merely a motor disorder and, most importantly, that TS is no longer a unitary condition, as it was previously thought. PMID:22411257

  13. [Pregnancy complicated by HELLP syndrome].

    PubMed

    Belowska, Anna; Ulman-W?odarz, Izabela; Galbierz-Kwiatkowska, Ewa

    2004-01-01

    HELLP syndrome belongs to the group of pathological disorders associated with pregnancy-induced hypertension and may accompany preeclampsia. The basic criteria for establishing the diagnosis are as follows: H--for hemolysis, EL--for elevated liver enzymes and LP--for low platelets. In this report the authors present the case of a 32 years old primipara admitted to the Obstetrics Clinic complaining of epigastric pain, nausea and vomiting. Medical history revealed previously diagnosed and treated reflux disease. In the 39th week of gestation epigastric pain manifested again, blood pressure was high (150/100) and on the basis of laboratory parameters HELLP syndrome was diagnosed (GPT 319 U/L, GOT 204 U/L, platelet 80 x 10(9)/L, antithrombin III 63.9%, D-dimer (+++)). With this case report, authors wished to point out the importance of early diagnosis and treatment of this rare, but having high percentage of perinatal mortality syndrome. PMID:15884197

  14. Distal DVT: worth diagnosing? Yes.

    PubMed

    Schellong, S M

    2007-07-01

    Much of the argument for or against diagnosis of distal deep vain thrombosis (DVT) depends on the extra effort that has to be spent on it. This review presents the data on ultrasound of paired calf veins and calf muscle veins (distal ultrasound) in terms of protocols, feasibility, reliability and expected findings. In summary, provided there is adequate and anatomically sound training of sonographers, distal ultrasound is a valid, 4-minute procedure, which can easily be added to the examination of proximal veins. The second part of the review refers to the pathophysiology of ascending DVT, which is the most common type. Adequate patient care in terms of benefit, harm and cost includes a single non-invasive examination followed by risk adopted treatment allocation. This concept ideally should be valid for any type of DVT. The data extending this concept to distal DVT can only be derived from studies that look closely at this entity (i.e. in fact diagnose distal DVT). Even before these data are available, diagnosing distal DVT at least doubles the number of symptomatic patients in which signs and symptoms can be ascribed to a definitive diagnosis, which in itself is a benefit for patient care. PMID:17635708

  15. [Proteus syndrome].

    PubMed

    Benichou, J J; Labrune, B; Formanek, A; Denoix, C; Oger, P

    1990-01-01

    Two new cases of Proteus syndrome are reported. This congenital syndrome, first described in 1983, comprises gigantism of extremities, body hemihypertrophy, pigmented nevi and multiple tumors (subcutaneous, lipomas, hamartomas). This syndrome belongs to the same group as Recklinghausen disease, Maffucci or Klippel-Trenaunay syndromes. The prognosis is not well known but mostly depends on functional and psychologic consequences of important deformations. PMID:2206106

  16. Heart and Down Syndrome

    MedlinePlus

    ... Series Videos Webinar Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down Syndrome Blood Diseases & Down Syndrome Dental Issues & Down Syndrome Dual Diagnosis of Down Syndrome & Autism Ear, Nose & Throat Issues & ...

  17. Dental Issues & Down Syndrome

    MedlinePlus

    ... Series Videos Webinar Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down Syndrome Blood Diseases & Down Syndrome Dental Issues & Down Syndrome Dual Diagnosis of Down Syndrome & Autism Ear, Nose & Throat Issues & ...

  18. 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

  19. Moyamoya Syndrome: A Window of Moyamoya Disease.

    PubMed

    Phi, Ji Hoon; Wang, Kyu-Chang; Lee, Ji Yeoun; Kim, Seung-Ki

    2015-06-01

    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

  20. How Is Alpha-1 Antitrypsin Deficiency Diagnosed?

    MedlinePlus

    ... Alpha-1 Antitrypsin Deficiency Diagnosed? Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a ... related to the condition. Your doctor may suspect AAT deficiency if you have signs or symptoms of ...

  1. 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 ...

  2. How Is Heart Valve Disease Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Heart Valve Disease Diagnosed? Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, a cardiologist usually will diagnose the ...

  3. How Is Acute Lymphocytic Leukemia Diagnosed?

    MedlinePlus

    ... How is acute lymphocytic leukemia classified? How is acute lymphocytic leukemia diagnosed? Certain signs and symptoms can suggest that ... described below. Tests used to diagnose and classify ALL If your doctor thinks you have leukemia, he ...

  4. [Munchausen disease diagnosed ten years after debut].

    PubMed

    Mrgan, Monija; Taasti, Lena Merete

    2013-09-01

    Munchausen disease is difficult to diagnose especially because it is often an exclusion diagnosis. We present a case of skin ulcers in a young woman, who was eventually diagnosed with Munchausen disease. PMID:23992908

  5. Pediatricians Vary Widely in Diagnosing ADHD, Depression

    MedlinePlus

    ... fullstory_158099.html Pediatricians Vary Widely in Diagnosing ADHD, Depression 5 years of data show 15 percent ... often U.S. pediatricians diagnose and prescribe drugs for attention-deficit/hyperactivity disorder (ADHD) and other mental health conditions, a new ...

  6. How Are Obesity and Overweight Diagnosed?

    MedlinePlus

    ... Information Clinical Trials Resources and Publications How are obesity & overweight diagnosed? Skip sharing on social media links ... and Blood Institute. (2012). How are overweight and obesity diagnosed? Retrieved August 8, 2012, from http://www. ...

  7. 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

  8. 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

  9. Rabid bat diagnosed in Hawaii.

    PubMed

    Sasaki, D M; Middleton, C R; Sawa, T R; Christensen, C C; Kobayashi, G Y

    1992-07-01

    Since 1966, the Hawaii State Government has been conducting Fluorescent Rabies Antibody (FRA) testing on animal brains as part of a statewide rabies-surveillance program. On April 3, 1991, the Department of Health (DoH) laboratory diagnosed the first case of rabies detected in the State. A large brown bat, Eptesicus fuscus fuscus, captured in a transport container that had just been off-loaded from a ship at Honolulu harbor, was caught. It's brain was examined and showed typical fluorescent staining patterns for rabies virus. The USPHS Centers For Disease Control (CDC) rabies laboratory confirmed the diagnosis 2 days later. The successful interception of this rabid animal was the result of close cooperation between the private sector (Sea Land Service, Hawaiian Stevedores) and the Hawaii State Government Departments of Health and of Agriculture. PMID:1517074

  10. 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

  11. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary.

    PubMed

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  12. Growth hormone and dysmorphic syndromes.

    PubMed

    Galasso, C; Scirè, G; Boscherini, B

    1995-01-01

    In order to study the pathogenesis of short stature in some of the best known and most frequent dysmorphic syndromes, we have reviewed the most significant studies conducted on somatrotropin secretion and on response to replacement treatment with human growth hormone in pediatric patients. In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients. Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted. PMID:8719440

  13. 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

  14. [MAZABRAUD SYNDROME: A CASE REPORT].

    PubMed

    Brescia, L; Herman, D; Kurth, W

    2015-12-01

    We report a case of Mazabraud syndrome diagnosed in a 53 year old female patient. This disease is characterized by the association of a fibrous dysplasia with one or several intramuscular myxoma(s). The literature related to this pathology is poor and only reports a few cases. The aetiology has not been fully established: a genetic hypothesis seems most likely given the common association with McCune-Albright syndrome. Although rare, the incidence of Mazabraud syndrome seems underestimated, probably out of ignorance. The aim of this article is to describe Mazabraud syndrome and its common features. The management of fibrous dysplasia of bone and benign soft tissue tumors will also be outlined. PMID:26867303

  15. Ochronosis diagnosed after knee arthroscopy

    PubMed Central

    Kara, Adnan; Celik, Haluk; Seker, Ali; Sezer, Hasan Basri; Kilinc, Eray; Uzun, Metin

    2014-01-01

    INTRODUCTION Ochronosis is a rare disorder which is defined as the deposition of metabolites of oxidation and polymerization of homogentisic acid, which have high affinity to collogen, in the connective tissues. It is a clinical condition characterized with ochronotic pigmentation of tissues, degenerative arthropathy of especially large joints and black discoloration of urine. In this paper we present a case of ochronosis diagnosed with biopsy and additional tests when a black discoloration of menisci and joint cartilage were detected during arthroscopic intervention for a degenerative meniscus tear. PRESENTATION OF CASE A forty two year-old male patient was operated for lateral meniscus tear of his right knee. The arthroscopic examination of right knee revealed black colored synovial hypertrophy and torn lateral meniscus. Partial meniscectomy was performed. The diagnosis of ochronosis was made after histopathologic examination. DISCUSSION Ochronotic pigment can accumulate in hyaline cartilage, tendon, skin, teeth, nail, sclera, tympanic membrane, heart valves, renal tubular cells, duramater, pancreas and walls of large arteries. In ochronosis the most frequently involved joints are knee and hip. In ochronotic arthropathy, articular cartilage become more sensitive to mechanical stresses. Our patient had meniscal tear, cartilage damage and black discoloration of synovial tissues and meniscus. CONCLUSION Arthroscopy may be helpful in diagnosis of ochronotic arthropathy. PMID:24993694

  16. [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

  17. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).

    PubMed

    Strassburg, Christian P

    2010-10-01

    Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies. Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson, Rotor, and Gilbert-Meulengracht syndromes, which are important differential diagnoses indicating benign disease that require no immediate treatment. Dubin-Johnson and Rotor syndromes are rare, exhibit mixed direct and indirect hyperbilirubinemia as well as typical profiles or urinary coproporphyrin excretion. Gilbert-Meulengracht disease leads to unconjugated hyperbilirubinemia because of impaired glucuronidation activity, and is part of a spectrum of genetic variants also encompassing fatal Crigler-Najjar syndrome. Gilbert-Meulengracht syndrome can be diagnosed by clinical presentation, biochemistry and genotyping, and carries significance regarding the disposition towards drug-associated toxicity. In addition, the precise diagnosis of these inherited hyperbilirubinemic syndromes avoids unnecessary invasive procedures for suspected more severe hepatobiliary disease. PMID:20955959

  18. Pseudoaminopterin syndrome.

    PubMed

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain

    2012-09-01

    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  19. 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 ...

  20. [Gardner's syndrome].

    PubMed

    Femiano, F; Cozzolino, S; Malzone, A

    1990-01-01

    The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. This work show crucial dentist's role in the early diagnosis important for the highly malignant potential of this syndrome. PMID:2097961

  1. Hurler syndrome

    MedlinePlus

    Hurler syndrome is a rare disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). Hurler syndrome belongs to a group of diseases called mucopolysaccharidosis, ...

  2. Asperger syndrome

    MedlinePlus

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental disorder ...

  3. Proteus Syndrome

    MedlinePlus

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Definition Common Signs Diagnostic Criteria (I have ... NIH to go with this criteria) Glossary Videos Proteus Syndrome is a condition which involves atypical growth ...

  4. Rett Syndrome

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Rett Syndrome: Overview Skip sharing on social media links Share this: Page Content Rett syndrome is a neurological and developmental genetic disorder that ...

  5. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  6. Serotonin syndrome

    MedlinePlus

    ... medicines that caused the syndrome In life-threatening cases, medicines that keep your muscles still (paralyze them) and ... Syndrome. Am J Psychiatry . 1991: 148:705. US Food and Drug Administration. FDA Public Health Advisory: Combined Use of ...

  7. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  8. Turner Syndrome

    MedlinePlus

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

  9. Branchiootorenal Syndrome

    MedlinePlus

    ... Rare Disease Day More Search for News on Rare Diseases Search Go Advanced News Search About GARD About ... GARD Home Diseases Branchiootorenal syndrome Diseases Genetic and Rare Diseases Information Center (GARD) Print friendly version Branchiootorenal syndrome ...

  10. Zellweger Syndrome

    MedlinePlus

    ... cure disorders such as Zellweger syndrome. NIH Patient Recruitment for Zellweger Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 National Institute of Child Health and ...

  11. [Hanhart syndrome (aglossia-adactylia syndrome). Report of 2 cases].

    PubMed

    Cañete Estrada, R; Gil Rivas, R; Alvarez Marcos, R; Burón Romero, A; Romanos Lezcano, A

    1990-11-01

    We discuss two cases of Hanhart syndrome, diagnosed at 3 days and 4 months respectively. Minimal diagnostic criteria (micrognathia and peromelia) are reported, and various etiologic hypothesis are discussed. This syndrome includes others as: aglossia-adactylia, hypoglossia-hypodactylia, oro-acral, oro-mandibular-limb-hipogenesis, ankyloglosia superior, glossopalatine ankylosis, peromelia and micrognathia. Emphasize the impossibility of prevention; the patients may die because of food aspiration, both parents an children being subsidiary of psychological support. The possibilities of logopedical treatment and prothesis of peromelic limb must be evaluated. PMID:2096762

  12. Learning about Down Syndrome

    MedlinePlus

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

  13. Craniofacial Syndrome Descriptions

    MedlinePlus

    ... Dysplasia Goldenhar/Hemifacial Moebius syndrome Pfeiffer syndrome Pierre Robin Sequence Treacher Collins syndrome Other syndromes Wonder News & ... absence of the radial limb. Pfeiffer syndrome Pierre Robin Sequence Saethre-Chotzen Saethre-Chotzen syndrome is a ...

  14. Inpatient alcohol withdrawal syndrome.

    PubMed

    Monte-Secades, R; Rabuñal-Rey, R; Guerrero-Sande, H

    2015-03-01

    A 55-year-old man was admitted for a femur fracture; an alcohol fetor was noted on admission. The following day, the patient began to experience tremors and nervousness. Intravenous haloperidol was administered. Shortly afterwards, the patient experienced two generalized seizures and then began to experience delirium and uncontrollable agitation. The patient was diagnosed with alcohol withdrawal syndrome; high doses of intravenous midazolam were prescribed and infused. A few hours later, the patient presented signs of respiratory depression, requiring a transfer to the intensive care unit. After a review of the medical history, it was determined that the patient had been admitted on 3 previous occasions due to alcohol withdrawal and had progressed to delirium tremens after experiencing seizures. Can the risk of alcohol withdrawal syndrome and the need for prophylactic treatment be assessed on admission? Were appropriate monitoring and treatment measures employed? Would it have been possible to change his outcome? PMID:25559647

  15. Hemophagocytic syndromes and infection.

    PubMed Central

    Fisman, D. N.

    2000-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues. HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linked with Epstein-Barr (EBV) virus infection. Hyperproduction of cytokines, including interferon-gamma and tumor necrosis factor-alpha, by EBV- infected T lymphocytes may play a role in the pathogenesis of HLH. EBV-associated HLH may mimic T-cell lymphoma and is treated with cytotoxic chemotherapy, while hemophagocytic syndromes associated with nonviral pathogens often respond to treatment of the underlying infection. PMID:11076718

  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. [Greater trochanteric pain syndrome].

    PubMed

    Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M

    2014-01-01

    Greater trochanteric pain is one of the common complaints in orthopedics. Frequent diagnoses include myofascial pain, trochanteric bursitis, tendinosis and rupture of the gluteus medius and minimus tendon, and external snapping hip. Furthermore, nerve entrapment like the piriformis syndrome must be considered in the differential diagnosis. This article summarizes essential diagnostic and therapeutic steps in greater trochanteric pain syndrome. Careful clinical evaluation, complemented with specific imaging studies and diagnostic infiltrations allows determination of the underlying pathology in most cases. Thereafter, specific nonsurgical treatment is indicated, with success rates of more than 90 %. Resistant cases and tendon ruptures may require surgical intervention, which can provide significant pain relief and functional improvement in most cases. PMID:24414233

  18. Complex regional pain syndrome

    PubMed Central

    Sebastin, Sandeep J

    2011-01-01

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

  19. Greater Trochanteric Pain Syndrome.

    PubMed

    Redmond, John M; Chen, Austin W; Domb, Benjamin G

    2016-04-01

    Patients who have lateral hip pain historically have been diagnosed with trochanteric bursitis and treated with nonsteroidal anti-inflammatory medications, corticosteroid injections, and physical therapy. Although this strategy is effective for most patients, a substantial number of patients continue to have pain and functional limitations. Over the past decade, our understanding of disorders occurring in the peritrochanteric space has increased dramatically. Greater trochanteric pain syndrome encompasses trochanteric bursitis, external coxa saltans (ie, snapping hip), and abductor tendinopathy. A thorough understanding of the anatomy, examination findings, and imaging characteristics aids the clinician in treating these patients. Open and endoscopic treatment options are available for use when nonsurgical treatment is unsuccessful. PMID:26990713

  20. Myofascial pain syndrome treatments.

    PubMed

    Borg-Stein, Joanne; Iaccarino, Mary Alexis

    2014-05-01

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

  1. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  2. Tics and tourette syndrome.

    PubMed

    Ganos, Christos; Martino, Davide

    2015-02-01

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

  3. 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…

  4. Cushing Syndrome

    MedlinePlus

    ... links Share this: Page Content What is Cushing’s syndrome? Cushing’s syndrome is a condition that occurs when the body’s ... medication or as a result of a tumor, Cushing’s syndrome can develop. Many factors influence whether this happens, ...

  5. 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

  6. Rowell syndrome

    PubMed Central

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

    2014-01-01

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

  7. Munchausen syndrome as dermatitis simulata.

    PubMed

    Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

    2012-01-01

    Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

  8. Munchausen Syndrome as Dermatitis Simulata

    PubMed Central

    Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

    2012-01-01

    Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

  9. [Familial Wolfram syndrome].

    PubMed

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

    2014-11-01

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

  10. 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

  11. 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.

  12. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

    PubMed Central

    2014-01-01

    Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and will help exclude disorders such as systemic lupus erythematosus, common variable immunodeficiency, and autoimmune lymphoproliferative syndromes, hemophagocytic disorders, lymphoproliferative diseases, and novel differential diagnoses such as MonoMac syndrome (GATA2 deficiency), CD27 deficiency, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency, activated PI3KD syndrome (APDS), X-linked immunodeficiency with magnesium defect (MAGT1 deficiency), and others. Immunosuppressive treatment often needs to be initiated urgently, which impedes further relevant immunologic laboratory analyses aimed at defining the underlying PID. Awareness of potentially involved disease spectra ranging from hematologic to rheumatologic and immunologic disorders is crucial for identifying a certain proportion of PID phenotypes and genotypes among descriptive diagnoses such as autoimmune hemolytic anemia, chronic immune thrombocytopenia, Evans syndrome, severe aplastic anemia/refractory cytopenia, and others. A synopsis of pathomechanisms, novel differential diagnoses, and advances in treatment options for cytopenias in PID is provided to facilitate multidisciplinary management and to bridge different approaches. PMID:25163701

  13. Celiac disease and Turner's syndrome: patient report.

    PubMed

    Arslan, D; Kuyucu, T; Kendirci, M; Kurtoglu, S

    2000-01-01

    Turner's syndrome is a chromosomal disease frequently associated with autoimmune disorders including thyroid disease, inflammatory bowel disease, diabetes mellitus and juvenile rheumatoid arthritis. Recent reports have described an association of celiac disease with Turner's syndrome. We present an additional patient with Turner's syndrome associated with celiac disease. A girl aged 15- 7/12 yr was seen for the complaints of delayed growth and puberty, abdominal pain and chronic diarrhea. She was diagnosed as having celiac disease and a gluten-free diet was initiated. Despite one year of strict diet no signs of puberty were observed. She was then evaluated again for absence of puberty, and 45,XO karyotype Turner's syndrome was diagnosed. PMID:11154159

  14. Fahr's Syndrome and Secondary Hypoparathyroidism.

    PubMed

    Dos Santos, Vitorino Modesta; Da Mata, Ana Medeiros De Farias; Ribeiro, Kelle Regina Alves; Calvo, Isadora Cartaxo De Sousa

    2016-01-01

    A typical case of Fahr's syndrome is described in a 76-year-old Brazilian female who underwent a total thyroidectomy three decades ago. Six years before the current admission, she started with generalized tonic-clonic seizures. Associated disorders involved extra-pyramidal, cognitive, nocturnal terror and mood changes. With suspicion of hypocalcemia due to secondary hypoparathyroidism, laboratory determinations confirmed the diagnoses. Furthermore, imaging studies of the central nervous system detected multiple calcifications, with characteristic distribution of Fahr's syndrome. Clinical management was successful. PMID:27141572

  15. Gingival enlargement in myelodysplastic syndrome

    PubMed Central

    George, Navia; Santhosh, Vediyera Chandroth; Kumar, Harish; Gopal, Saumiya

    2015-01-01

    The myelodysplastic syndrome (MDS) is characterized by peripheral blood cytopenias and increased risk of transformation to acute myeloid leukemia. This syndrome affects blood cell production and behavior. MDS is difficult to diagnose because of the absence of symptoms in the early stage of the disease. Often it is accidentally discovered during a routine physical exam/blood test. Till date, only a few cases of gingival enlargement associated with MDS are reported in the literature. Here is a remarkable case of gingival enlargement heralding the presence of MDS.

  16. Imaging characteristics of androgen insensitivity syndrome.

    PubMed

    Tank, Jay; Knoll, Abraham; Gilet, Anthony; Kim, Susanne

    2015-01-01

    Androgen insensitivity syndrome (AIS), also known as testicular feminization, is a genetic disorder which leads to lack of response to androgens caused by a defect in the androgen receptor. It is relatively uncommon and is usually diagnosed through clinical symptoms, laboratory findings, physical exam, radiological imaging, and genetic analysis. Our case is a middle-aged woman with complete AIS and demonstrates the importance of the various imaging modalities that are implemented in initially diagnosing and assisting in surgical management. PMID:25721709

  17. Eight patients with Williams syndrome and craniosynostosis.

    PubMed

    Ueda, Kimiko; Yamada, Junji; Takemoto, Osamu; Okamoto, Nobuhiko

    2015-01-01

    Williams syndrome (WS) is a well-known genetic syndrome caused by a microdeletion on chromosome 7q11.23 encompassing the elastin gene. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual disabilities, and various other manifestations. Some patients were reported with craniosynostosis. Here, we report 8 WS cases diagnosed with craniosynostosis using three-dimensional cranial computed tomography. These findings suggest that craniosynostosis may occur more frequently in WS patients than expected. PMID:26002408

  18. [Abdominal vascular malformations and Down syndrome].

    PubMed

    Nso Roca, A P; García Sánchez, P; Quero Jiménez, J

    2007-04-01

    Malformations of the abdominal venous system are rare vascular disorders. These entities are associated with other malformations and with chromosomal anomalies such as trisomy 21. Abdominal venous malformations are probably the most frequent congenital vascular malformations in Down syndrome. Prenatal diagnosis allows the early follow-up and treatment of complications. We present a case of Down syndrome associated with an abdominal venous malformation diagnosed at the first trimester of pregnancy. PMID:17430719

  19. Second order Horner's syndrome in a cat.

    PubMed

    De Risio, Luisa; Fraser McConnell, James

    2009-08-01

    This case report describes the clinical and magnetic resonance imaging (MRI) findings of a 3.5-year-old, male neutered, domestic shorthair cat with second order Horner's syndrome as the only clinical abnormality. The neuroanatomical pathway of the sympathetic innervation to the eye, differential diagnoses for Horner's syndrome in cats, and the interpretation of pharmacological testing are reviewed. The unusual MRI findings and the value of fat-suppressed MRI sequences are discussed. PMID:19261500

  20. Prenatal diagnosis of Robinow syndrome: a case report.

    PubMed

    Castro, Simon; Peraza, Efren; Barraza, Astrid; Zapata, Marco

    2014-06-01

    Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014. PMID:24151023

  1. 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…

  2. Behavioral and Emotional Disturbance in Individuals with Williams Syndrome.

    ERIC Educational Resources Information Center

    Einfeld, Stewart L.; Tonge, Bruce J.; Florio, Tony

    1997-01-01

    Comparison of behavioral and emotional disturbance in 70 children and adolescents with Williams Syndrome (characterized by mental retardation and short stature) and a control group, found Williams Syndrome subjects were more likely to be diagnosed with a psychiatric disorder characterized by anxiety, hyperactivity, preoccupations, and…

  3. 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

  4. Peripheral spondyloarthritis in a patient with Noonan's syndrome.

    PubMed

    Saldarriaga Rivera, Lina Maria; Fernandes de Melo, Elisa; Damião Araujo, Priscilla; Araujo Silva Filho, Nelson; Delgado Quiroz, Luis Alberto; Rios Gomes Bica, Blanca Elena

    2015-01-01

    Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature. PMID:24447602

  5. POEMS Syndrome: A Rare Disease With A Challenging Diagnosis.

    PubMed

    Delgado Flores, Glorilee; Robles Cartagena, América; Robles Cartagena, Ivonne; Muñiz, Armando; Cabanillas, Fernando; Vicens, Rafael

    2015-01-01

    A complex conglomerate of symptoms, signs, and abnormalities are present with POEMS syndrome, making the diagnosis, management and follow-up a challenge. Recognizing the disease early on may be difficult. Many patients are initially misdiagnosed as having others disorders, for example: multiple myeloma. There is no standard treatment for patients diagnosed with POEMS syndrome. PMID:26742203

  6. 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

  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. Nine Years with Munchausen Syndrome: A Case of Psychogenic Dystonia

    PubMed Central

    Cakmak, Mirac A.; Sahin, Sevki; Cinar, Nilgun; Tiyekli, Utkan; Karsidag, Sibel

    2015-01-01

    Background Munchausen syndrome presenting with psychogenic dystonia is a rare condition. Phenomenology Shown A psychogenic dystonia case presenting with an acute onset of retrocollis, lower limb dystonia and bizarre gait was diagnosed as Munchausen syndrome. Educational Value Recognizing psychogenic dystonia avoids unnecessary investigations and provides successful treatment.

  10. 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.…

  11. 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…

  12. The Syndrome of Absence Status Epilepsy: Review of the Literature

    PubMed Central

    Pappatà, Sabina; De Simone, Roberto

    2014-01-01

    The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed. PMID:24660061

  13. A Disorder Unique to Adolescence? The Kleine-Levin Syndrome.

    ERIC Educational Resources Information Center

    Cawthorn, Paul

    1990-01-01

    Describes Kleine-Levin syndrome, rare disorder characterized by excessive sleep and abnormal hunger. Notes that, in its pure form, disorder can only be diagnosed in adolescent males. Presents case study of 15-year-old male with disease. Presents evidence which suggests link between Kleine-Levin syndrome and cyclic affective disorders. (Author/ABL)

  14. Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

    PubMed Central

    Mahgoub, Linda; Aziz, Khalid; Davies, Dawn; Leonard, Norma

    2014-01-01

    Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient. PMID:25032053

  15. [Schimmelpenning-Feuerstein-Mims syndrome: a case report].

    PubMed

    Bahloul, E; Abid, I; Masmoudi, A; Makni, S; Kamoun, F; Boudawara, T; Triki, C; Turki, H

    2015-11-01

    Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a congenital neurocutaneous disorder characterized by the association of nevus sebaceous with extracutaneous abnormalities. We report a new case of Schimmelpenning-Feuerstein-Mims with aortic coarctation and drug-resistant West syndrome. This case emphasizes the importance of exploring and monitoring patients with nevus sebaceous in order to diagnose associated anomalies. PMID:26320679

  16. Critical thinking and accuracy of nurses' diagnoses.

    PubMed

    Lunney, Margaret

    2003-01-01

    Interpretations of patient data are complex and diverse, contributing to a risk of low accuracy nursing diagnoses. This risk is confirmed in research findings that accuracy of nurses' diagnoses varied widely from high to low. Highly accurate diagnoses are essential, however, to guide nursing interventions for the achievement of positive health outcomes. Development of critical thinking abilities is likely to improve accuracy of nurses' diagnoses. New views of critical thinking serve as a basis for critical thinking in nursing. Seven cognitive skills and ten habits of mind are identified as dimensions of critical thinking for use in the diagnostic process. Application of the cognitive skills of critical thinking illustrates the importance of using critical thinking for accuracy of nurses' diagnoses. Ten strategies are proposed for self-development of critical thinking abilities. PMID:14649031

  17. [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

  18. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    PubMed

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  19. Evans Syndrome Secondary to Common Variable Immune Deficiency.

    PubMed

    Antoon, James W; Metropulos, Diana; Joyner, Benny L

    2016-04-01

    Evans syndrome is an underdiagnosed condition consisting of simultaneous or sequential combination of autoimmune hemolytic anemia and immune-mediated thrombocytopenia. We report a case of severe Evans syndrome presenting as altered mental status, a rare presenting sign of the disease. This case highlights the difficulty in diagnosing Evans syndrome and provides a review of the literature and management strategies for treating the disorder. PMID:26950085

  20. Cuboid Syndrome: a Review of the Literature

    PubMed Central

    Patterson, Stephen M.

    2006-01-01

    The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present) using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient’s history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent. Key Points Define the poorly understood condition of cuboid syndrome. Provide an understanding of the anatomical structures involved. Provide an explanation as to the cause of this syndrome. Demonstrate ways to evaluate by making a differential diagnosis. To inform health care professionals about management and treatment of cuboid syndrome. PMID:24357955

  1. Baboon syndrome and segmental vitiligo coexistence.

    PubMed

    Utaş, Serap; Ferahbaş, Ayten

    2009-01-01

    The baboon syndrome is a form of systemic contact dermatitis with skin eruptions in the area of the buttocks and major flexures. Inhalation of mercury vapor causes this rare but distinctive eruption. Broken thermometers are the usual sources of exposure. We hereby present a 14-year-old boy diagnosed with baboon syndrome coexistence with vitiligo, due to broken thermometers. In our case, it was interesting that erythematous eruptions were more evident on the vitiliginous side of the trunk. To our knowledge, there have been no reports in the literature of baboon syndrome and vitiligo coexistence. PMID:19950853

  2. [Acute idiopathic hypereosinophilic syndrome in a rottweiler].

    PubMed

    Drouot, S; Lobsiger, L; Huber, E

    2007-11-01

    The idiopathic hypereosinophilic syndrome is a part of the yet rather unknown diseases and the aetiology remains at the least hypothetical. This syndrome is characterized by a variable hypereosinophilemia as well as a massive infiltration of several organs by mature eosinophils, causing an important tissue damage leading to organ dysfunctions and resulting in the patient death. In this reported case, the acute idiopathic hypereosinophilic syndrome was diagnosed in a 4-year rottweiler female dog based on an increased eosinophilemia and the infiltration of stomach, small intestine, colon, pancreas, spleen, ganglions, skin, lungs and bone marrow by mature eosinophiles. The acute development of the disease precluded any therapeutical hope success. PMID:18085165

  3. Apert's syndrome: Report of a rare case

    PubMed Central

    Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C

    2013-01-01

    Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS. PMID:24250097

  4. Barth syndrome

    PubMed Central

    2013-01-01

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

  5. [Usefulness of gray platelets observation in ARC syndrome].

    PubMed

    Benet, Blandine; Lainey, Elodie; Fenneteau, Odile; Baudouin, Véronique; Hurtaud-Roux, Marie-Françoise

    2010-01-01

    Arthrogryposis Renal Fanconi syndrome and Cholestasis (ARC syndrome) is an extremely rare disease (62 cases) and is uneasy to diagnose. This congenital multisystem disorder affects newborns who usually die in the first year of life. The three cases here report the main clinical and biological features of this unknown disease and show how careful platelets morphology examination on blood smear can help for diagnosis. The three cases were observed at Robert Debré hospital in Paris over a twenty years period. In the first case, ARC syndrome was diagnosed after death. For the two following newborns, gray platelets detection in association with clinical symptoms allowed an earlier diagnosis. PMID:20650745

  6. Gorlin syndrome.

    PubMed

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

    2013-05-01

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

  7. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome

    PubMed Central

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-01-01

    Introduction: In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. Case Presentation: The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. Conclusions: The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment. PMID:26949693

  8. Klinefelter Syndrome

    MedlinePlus

    ... have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also experience primary hypogonadism (decreased testosterone production), small testes, enlarged ...

  9. ARC syndrome in preterm baby.

    PubMed

    Elmeery, A; Lanka, K; Cummings, J

    2013-10-01

    A preterm female infant born of 32 weeks gestational age was presenting with musculoskeletal abnormalities, and cholestasis that later on resolved. Later on, she developed renal tubular acidosis (RTA), poor weight gain, unexplained intermittent fever and recurrent spontaneous bleeding episodes. ARC is an acronym that stands for arthrogryposis, renal dysfunction and cholestasis. ARC syndrome is a rare disorder that is difficult to diagnose and is associated with poor outcomes. We present a case of ARC syndrome in an infant with a history of failure to thrive, early cholestasis and RTA. There are many unique features about this case that should add to our understanding of this genetic condition. To our knowledge this is the first identified case of ARC syndrome in a preterm infant. Although the specific mutation found in our patient has not been reported previously, the type and location of this mutation is consistent with our genetic understanding of this disorder. PMID:24071963

  10. [Nicolau syndrome after intramuscular injection].

    PubMed

    Bellot, B; Bonnet, C; Retornaz, K; Panuel, M; Garnier, J-M; Dubus, J-C; Jurquet, A-L

    2014-04-01

    Nicolau syndrome is a rare, potentially severe complication that may occur after any drug injection, particularly after intramuscular injection. It is characterized by the acute onset of cutaneous and soft-tissue aseptic necrosis. Here, we report the case of a 14-year-old boy diagnosed with Nicolau syndrome on the right lower limb, after a benzathine-penicillin intramuscular injection for suspected rheumatic fever. The short-term progression was marked by uncomplicated rhabdomyolysis and the constitution of homolateral testicular torsion. The cutaneous-muscular disorders evolved favorably under symptomatic treatment. We discuss this insufficiently known complication of intramuscular injection, which may motivate reduced use of this route of drug administration in children and strict adherence to the procedure. Furthermore, it is important to note that Nicolau syndrome may evolve to homolateral testicular torsion, as, to the best of our knowledge, is reported for the first time in this case. PMID:24630542

  11. [Inherited bone marrow failure syndromes].

    PubMed

    Okuno, Yusuke

    2016-02-01

    Inherited bone marrow failure syndromes comprise a series of disorders caused by various gene mutations. Genetic tests were formerly difficult to perform because of the large size and number of causative genes. However, recent advances in next-generation sequencing has enabled simultaneous testing of all causative genes to be performed at an acceptable cost. We collaboratively conducted a series of whole-exome sequencing studies of patients with inherited bone marrow failure syndromes and discovered RPS27/RPL27 and FANCT as causative genes of Diamond-Blackfan anemia and Fanconi anemia, respectively. Furthermore, we established a target gene sequencing system to cover 189 genes associated with pediatric blood diseases to assist genetic diagnoses in clinical practice. In this review, discovery of new causative genes and possible roles of next-generation sequencing in the genetic diagnosis of inherited bone marrow failure syndromes are discussed. PMID:26935625

  12. Robinow Syndrome: A Rare Diagnosis.

    PubMed

    Mishra, Shubhankar; Agarwalla, Sunil Kumar; Pradhan, Swayanprava

    2015-12-01

    Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called 'fetal face syndrome' due to its resemblance with fetal face. We present an eight-year-old female child who came with mesomelic short stature, abnormal facial features, multiple sets of teeth (both deciduous and permanent), pectus excavatum, umbilical hernia, limb abnormalities like shortening of fore arm, simian crease, broad thumbs and other fingers, clinodactyly, abnormal carrying angle, absent labia minora, absent clitoris. Apart from physical appearance she was having diversification of recti and umbilical hernia. Due to the several physical presentation mild systemic involvement it was diagnosed as autosomal dominant robinow syndrome. She is now on follow up and planned for a cosmetic surgery to repair facial defects. PMID:26816964

  13. Haglund syndrome with pump bump.

    PubMed

    Kucuksen, Sami; Karahan, Ali Yavuz; Erol, Kemal

    2012-01-01

    Haglund's syndrome, which is an inflammation of the bursa and a bony enlargement on the back of the heel that most often leads to painful bursitis, is a rare cause of retrocalcaneal pain. The clinical diagnosis is often confusing as the clinical picture may mimic other causes of hindfoot pain such as isolated retrocalcaneal bursitis or hindfoot involvement from more systemic disorders such as seronegative spondyloarthropathies (Reiter's syndrome, ankylosing spondylitis) or rheumatoid arthritis. This report is of a 60-year-old woman with a painful swelling of the right heel, who was diagnosed with Haglund syndrome. The characteristic clinical photograph (showing the prominent 'pump bump'), radiographical and magnetic resonance imaging features are presented. PMID:23409529

  14. 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

  15. Proteus Syndrome Foundation

    MedlinePlus

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  16. 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

  17. Diagnosis, Differential Diagnoses, and Classification of Diverticular Disease

    PubMed Central

    Lembcke, Bernhard

    2015-01-01

    Background While detailed history, physical examination, and laboratory tests are of great importance when examining a patient with diverticular disease, they are not sufficient to diagnose (or stratify) diverticulitis without cross-sectional imaging (ultrasonography (US), computed tomography (CT)). Methods Qualified US has diagnostic value equipotent to qualified CT, follows relevant legislation for radiation exposure protection, and is frequently effectual for diagnosis. Furthermore, its unsurpassed resolution allows detailed investigation down to the histological level. Subsequently, US is considered the first choice of imaging in diverticular disease. Vice versa, CT has definite indications in unclear/discrepant situations or insufficient US performance. Results Endoscopy is not required for the diagnosis of diverticulitis and shall not be performed in the acute attack. Colonoscopy, however, is warranted after healing of acute diverticulitis, prior to elective surgery, and in atypical cases suggesting other diagnoses. Perforation/abscess must be excluded before colonoscopy. Conclusion Reliable diagnosis is fundamental for surgical, interventional, and conservative treatment of the different presentations of diverticular disease. Not only complications of acute diverticulitis but also a number of differential diagnoses must be considered. For an adequate surgical strategy, correct stratification of complications is mandatory. Subsequently, in the light of currently validated diagnostic techniques, the consensus conference of the German Societies of Gastroenterology (DGVS) and of Visceral Surgery (DGAV) has passed a new classification of diverticulitis displaying the different facets of diverticular disease. This classification addresses different types (not stages) of the condition, and includes symptomatic diverticular disease (SUDD), largely resembling irritable bowel syndrome, as well as diverticular bleeding. PMID:26989378

  18. T-cell lymphoma with POEMS syndrome

    PubMed Central

    ZOU, FANGWEN; LI, ZHENHUA; MA, JIN-AN; QIU, ZHENHUA; TANG, YI-FANG; ZHENG, JIAO-YUN

    2015-01-01

    Angioimmunoblastic T-cell lymphoma (AITL) is a unique subtype of peripheral T-cell lymphoma. POEMS syndrome is a rare paraneoplastic syndrome caused by an underlying plasma cell disorder (PCD). The occurrence of AITL with POEMS syndrome has rarely been reported in the literature. The current study presents the case of a 53-year-old male who presented with a rapidly proliferative lymph node on the left neck, which was identified as an AITL on biopsy. The patient also exhibited the complications of polyneuropathy, M-proteinemia, hepatosplenomegaly, left ventricular hypertrophy, endocrinopathy and skin changes, and was therefore diagnosed with POEMS syndrome. To the best of our knowledge, the present study is the first to report a case of AITL with POEMS syndrome. The findings in this case suggest that the aberrant clones of B cells can also be caused by AITL. PMID:25663904

  19. Cancer problem in Peutz-Jeghers syndrome.

    PubMed

    Taheri, Diana; Afshar-Moghadam, Noushin; Mahzoni, Parvin; Eftekhari, Amin; Hashemi, Seyed Mozafar; Emami, Mohammad Hasan; Fesharakizadeh, Mehdi; Ghasemi-Basir, Hamid Reza

    2013-01-01

    Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome can be associated with other neoplasms such as ovarian neoplasms known as sex-cord tumor with annular tubules that are associated in one third of the cases with this syndrome and other types of malignancies. We report a 42-year-old woman with a history of Peutz-Jeghers Syndrome and bilateral breast cancer that presented with abnormal uterine bleeding. Total abdominal hysterectomy with bilateral salpino-oophorectomy was done and an ovarian sex cord tumor with annular tubules was incidentally diagnosed. By reviewing literatures and in agreement with previous studies we suggest routine screening for malignancies in patients with Peutz-Jeghers syndrome. PMID:23977663

  20. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

    PubMed

    Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

    2016-06-01

    Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect. PMID:26508576

  1. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure. PMID:19032739

  2. Parental migration and Asperger's syndrome.

    PubMed

    Lehti, Venla; Cheslack-Postava, Keely; Gissler, Mika; Hinkka-Yli-Salomäki, Susanna; Brown, Alan S; Sourander, Andre

    2015-08-01

    Parental immigration has been suggested as a possible risk factor for autism spectrum disorders (ASD), but findings have been inconsistent. Very few studies have focused specifically on Asperger's syndrome. The aim of this study was to examine the association between maternal and paternal immigration and the diagnosis of Asperger's syndrome in offspring. The study was a nested case-control study based on a national birth cohort in Finland. Children born in 1987-2005 and diagnosed with Asperger's syndrome by the year 2007 were identified from the Finnish Hospital Discharge Register (N = 1,783). Four matched controls for each case were selected from the Finnish Medical Birth Register (N = 7,106). Information on maternal and paternal country of birth and mother tongue was collected from the Finnish Central Population Register. The study showed that children whose parents are both immigrants have a significantly lower likelihood of being diagnosed with Asperger's syndrome than those with two Finnish parents [adjusted odds ratio (aOR) 0.2, 95 % confidence interval (CI) 0.1-0.4]. No significant associations were found between having only one immigrant parent and the diagnosis of Asperger's syndrome. A regional analysis showed a significantly decreased likelihood of the diagnosis of Asperger's syndrome in children whose mother (aOR 0.1, 95 % CI 0.01-0.5) or father (aOR 0.2, 95 % CI 0.05-0.5) was born in Sub-Saharan Africa. The findings may help in identifying risk factors for different ASD subtypes. On the other hand, they might reflect service use of immigrant families in Finland. PMID:25381114

  3. Pervasive refusal syndrome.

    PubMed

    Wright, Barry; Beverley, David

    2012-04-01

    We report here on a case of severe pervasive refusal syndrome. This is of interest for three reasons. Firstly, most reported cases are adolescent girls; our case is regarding an adolescent boy. Secondly, he was successfully treated at home and thirdly, the serology showed an apparent infective pre-cursor to the illness with evidence of possible autoimmune serology. A 14-year old boy deteriorated from a picture where diagnosed CFS/ME developed into Pervasive Refusal Syndrome. This included the inability to move or speak, with closed eyes, multiple tics, facial grimacing, heightened sensitivity to noise (hyperacusis) and touch (hyperaesthesia), and inability or unwillingness to eat anything except small amounts of sloppy food. Successful rehabilitation is reported. Finally the issue of nomenclature is discussed, raising the question whether Pervasive Refusal Syndrome would be better renamed in a way that does not imply that the condition is always volitional and oppositional, as this can distract focus away from an alliance between family and clinicians. PMID:21733931

  4. Prader-Willi Syndrome (PWS): Condition Information

    MedlinePlus

    ... genetic disorder that affects many parts of the body. Genetic testing can successfully diagnose 99% of infants with PWS. 1 The syndrome usually results from deletions or partial deletions on chromosome 15 that affect the regulation of gene expression, or how genes turn on and off. Andrea ...

  5. Language Skills of Adolescents with Tourette Syndrome

    ERIC Educational Resources Information Center

    Legg, Carol; Penn, Claire; Temlett, James; Sonnenberg, Beulah

    2005-01-01

    A multiple single-case study investigated language characteristics of adolescents with Tourette Syndrome (TS). Ten adolescent subjects with diagnosed TS were evaluated on a test battery sensitive to high level language and discourse impairment. Results were compared to established norms or, where no norms have been established, with results…

  6. The levator syndrome and its variant.

    PubMed

    Salvati, E P

    1987-03-01

    The levator syndrome is an entity characterized by pain high in the rectal area that can be elicited by pressure applied to the levator ani. The etiology, diagnosis, and treatment of this disorder are described. Its importance lies in its misdiagnosis or in the failure to diagnose. PMID:3298056

  7. Marshall syndrome: a condition resembling congenital syphilis.

    PubMed Central

    Onile, B A; Rotowa, A; Osoba, A O; Alausa, O K

    1981-01-01

    Marshall syndrome (ectodermal dysplasia) was diagnosed in a 14-year-old boy and is thought to be the first case reported from West Africa. Because of the saddle-nose deformity and bilateral cataracts all patients suspected of having congenital syphilis should be investigated for ocular or auditory defects, which would confirm the diagnosis of ectodermal dysplasia. Images PMID:7214117

  8. 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…

  9. Ehlers Danlos Syndrome – A Case Report

    PubMed Central

    Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra

    2014-01-01

    Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151

  10. 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…

  11. 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…

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. How Is Sudden Cardiac Arrest Diagnosed?

    MedlinePlus

    ... the structure and function of the heart. Cardiac Catheterization Cardiac catheterization is a procedure used to diagnose and treat ... Study For an electrophysiology study, doctors use cardiac catheterization to record how your heart's electrical system responds ...

  16. How Is Mitral Valve Prolapse Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Mitral Valve Prolapse Diagnosed? Mitral valve prolapse (MVP) most often is detected during a ... listen to your heart with a stethoscope. Stretched valve flaps can make a clicking sound as they ...

  17. How Can Dyslexia Be Objectively Diagnosed?

    ERIC Educational Resources Information Center

    Pavlidis, George Th.

    1979-01-01

    Describes experiments showing that the eye movement patterns of dyslexic children differed from those of normal and backward readers during both a reading and a nonreading task. Discusses possible causes of dyslexia and ways of diagnosing it. (GT)

  18. How Are Overweight and Obesity Diagnosed?

    MedlinePlus

    ... the NHLBI on Twitter. How Are Overweight and Obesity Diagnosed? The most common way to find out ... or stress. Rate This Content: NEXT >> Featured Video Obesity happens one pound at a time. So does ...

  19. How Is Deep Vein Thrombosis Diagnosed?

    MedlinePlus

    ... Tests Lung Ventilation/Perfusion Scan Overweight and Obesity Pulmonary Embolism Send a link to NHLBI to someone by ... diagnosed until after they receive emergency treatment for pulmonary embolism (PE). Medical History To learn about your medical ...

  20. How Is Sickle Cell Disease Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Sickle Cell Disease Diagnosed? Screening Tests People who do not ... NEXT >> Featured Video Living With and Managing Sickle Cell Disease (Nicholas) 09/02/2011 In this video— ...

  1. 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

  2. Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis

    PubMed Central

    Furuta, Yasushi; Fukuda, Satoshi

    2016-01-01

    Heerfordt's syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordt's syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordt's syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordt's syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordt's syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordt's syndrome appropriately in cooperation with pneumologists and ophthalmologists. PMID:26885424

  3. Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis.

    PubMed

    Fujiwara, Keishi; Furuta, Yasushi; Fukuda, Satoshi

    2016-01-01

    Heerfordt's syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordt's syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordt's syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordt's syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordt's syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordt's syndrome appropriately in cooperation with pneumologists and ophthalmologists. PMID:26885424

  4. 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…

  5. 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…

  6. Alagille Syndrome

    MedlinePlus

    ... person's discomfort. Scientists have not yet found a way to prevent Alagille syndrome. Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition. [ Top ] Clinical Trials The National ...

  7. Tourette Syndrome

    MedlinePlus

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

  8. Tourette Syndrome.

    ERIC Educational Resources Information Center

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  9. Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    1991-01-01

    The many prostatitis syndromes remain a frustrating enigma to family physicians as well as specialists. An understanding of the etiology and pathophysiology of these syndromes and a rigorous diagnostic plan to properly classify the patients at first presentation are essential to a successful treatment outcome. ImagesFigure 1 PMID:21229071

  10. Marfan Syndrome

    MedlinePlus

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  11. Postthrombotic Syndrome

    MedlinePlus

    ... in the prevention and management of postthrombotic syndrome. Ann Pharmacother . 2009;43:1824–1835. Reproduced from Vazquez ... in the prevention and management of postthrombotic syndrome. Ann Pharmacother . 2009 ; 43 : 1824 –1835. OpenURL CrossRef Medline ↵ ...

  12. 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

  13. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  14. 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

  15. Horner syndrome in neurofibromatosis type 1.

    PubMed

    Lee, Jang Hyun; Jeen, Yoon-Mi; Kang, Sang Gue; Tark, Min Seung; Kim, Chul Han

    2015-01-01

    The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid. The physical examination revealed ptosis of the left eyelid, miotic pupil, facial anhidrosis, and several skin masses on the chest. The radiological examination of the chest demonstrated a well-defined left posterior mediastinal mass close to the vertebral bodies of the upper thoracic spine at the level of T1-T5. The masses of mediastinum and skin were totally removed. They were diagnosed as neurofibromas. Neurofibromatosis type 1 was diagnosed. To the best of my knowledge, this is a rare case of a patient with NF-1 who presented with Horner syndrome. Clinicians should be vigilant on the possibility of Horner syndrome in patients with NF-1. PMID:25469900

  16. Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

    PubMed

    O'Callaghan, F J; Clarke, A C; Joffe, H; Keeton, B; Martin, R; Salmon, A; Thomas, R D; Osborne, J P

    1998-02-01

    This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways. PMID:9579160

  17. Alzheimer's Disease and Down Syndrome

    MedlinePlus

    ... Series Videos Webinar Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down Syndrome Blood Diseases & Down Syndrome Dental Issues & Down Syndrome Dual Diagnosis of Down Syndrome & Autism Ear, Nose & Throat Issues & ...

  18. Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.

    PubMed

    de Vries, B B; van'tHoff, W G; Surtees, R A; Winter, R M

    2001-04-01

    We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous. PMID:11310991

  19. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  20. Down syndrome.

    PubMed

    Takashima, S

    1997-04-01

    Down syndrome, trisomy of chromosome 21, is well investigated because it is a genetic disease with characteristic mental retardation and precocious dementia of Alzheimer type. Maternal serum markers of human chorionic gonadotrophin unconjugated estriol and amyloid precursor protein, nuchal skinfold on ultrasound and new genetic probes are developed to allow better detection of Down syndrome. The overproduction of A beta 42 because of excessive genes is thought to be a leading factor for early onset of dementia in Down syndrome adults. Animal models and transgenic mice may be helpful in determining the specific gene and pathogenesis for mental retardation and precocious dementia. PMID:9146996

  1. LEOPARD Syndrome.

    PubMed

    Ghosh, Sudip Kumar; Majumdar, Biswajit; Rudra, Olympia; Chakraborty, Sougat

    2015-10-01

    LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines. PMID:26632807

  2. Hubris syndrome.

    PubMed

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair. PMID:18724614

  3. Myelodysplastic syndromes.

    PubMed Central

    Doll, D C; List, A F

    1989-01-01

    The myelodysplastic syndromes are a heterogeneous group of hematopoietic stem cell disorders characterized by dysplastic and ineffective hematopoiesis and a varying risk of transformation to acute leukemia. Although the natural history of these syndromes is variable, several factors appear to be of prognostic importance, including the French-American-British classification, the karyotype, in vitro colony formation, and others. The pathogenesis of the myelodysplastic syndrome is not known, but recent evidence suggests that alterations of cellular oncogenes may be a causative factor. There is no standard therapy for myelodysplasia, and thus novel approaches to patient management are warranted. PMID:2672599

  4. 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

  5. Generating a Reliable Reference Standard Set for Syndromic Case Classification

    PubMed Central

    Chapman, Wendy W.; Dowling, John N.; Wagner, Michael M.

    2005-01-01

    Objective To generate and measure the reliability for a reference standard set with representative cases from seven broad syndromic case definitions and several narrower syndromic definitions used for biosurveillance. Design From 527,228 eligible patients between 1990 and 2003, we generated a set of patients potentially positive for seven syndromes by classifying all eligible patients according to their ICD-9 primary discharge diagnoses. We selected a representative subset of the cases for chart review by physicians, who read emergency department reports and assigned values to 14 variables related to the seven syndromes. Measurements (1) Positive predictive value of the ICD-9 diagnoses; (2) prevalence of the syndromic definitions and related variables; (3) agreement between physician raters demonstrated by κ, κ corrected for bias and prevalence, and Finn's r; and (4) reliability of the reference standard classifications demonstrated by generalizability coefficients. Results Positive predictive value for ICD-9 classification ranged from 0.33 for botulinic to 0.86 for gastrointestinal. We generated between 80 and 566 positive cases for six of the seven syndromic definitions. Rash syndrome exhibited low prevalence (34 cases). Agreement between physician raters was high, with κ > 0.70 for most variables. Ratings showed no bias. Finn's r was >0.70 for all variables. Generalizability coefficients were >0.70 for all variables but three. Conclusion Of the 27 syndromes generated by the 14 variables, 21 showed high enough prevalence, agreement, and reliability to be used as reference standard definitions against which an automated syndromic classifier could be compared. Syndromic definitions that showed poor agreement or low prevalence include febrile botulinic syndrome, febrile and nonfebrile rash syndrome, respiratory syndrome explained by a nonrespiratory or noninfectious diagnosis, and febrile and nonfebrile gastrointestinal syndrome explained by a nongastrointestinal or noninfectious diagnosis. PMID:16049227

  6. 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.

  7. 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

  8. Gorlin-Goltz syndrome: a rare case report

    PubMed Central

    Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita

    2013-01-01

    Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographical examinations in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article describes an 11-year-old boy with GS. PMID:23814215

  9. 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

  10. Cannabinoid hyperemesis syndrome and the onset of a manic episode.

    PubMed

    Gregoire, Phillip; Tau, Michael; Robertson, David

    2016-01-01

    Cannabinoid hyperemesis syndrome is a rare, recently described, clinically diagnosed condition that is characterised by a chronic history of cannabis use, cyclic nausea and vomiting, symptomatic relief with hot water bathing, and resolution with cessation of use. We present a case of this syndrome concurrent in a patient with bipolar mania. We suggest that a 3-week period of vomiting in the context of this syndrome contributed to the precipitation of a manic episode by lowering mood stabiliser serum levels, and that this syndrome will have significant consequences for the patient's mental health. PMID:27122104

  11. [Munchausen's syndrome: a factitious disorder? A case report].

    PubMed

    Reich, E; Kajosh, H; Verbanck, P; Kornreich, C

    2013-01-01

    Munchausen's syndrome is classified as a chronic factitious disorder with predominant physical signs and symptoms. Several symptoms are specific to this disorder, such as travelling and pseudologia fantastica. Others symptoms, such as multiple physical complaints with no organic substrate, are shared with somatoform disorders. We report a case showing how difficult it is to diagnose a Munchausen syndrome. We discuss also the opportunity to classify such a syndrome as a factitious disorder. Indeed, several authors suggest classifying Munchausen syndrome as a subtype of somatoform disorders, as those two disorders share a lot of characteristics. PMID:24505869

  12. 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.

  13. The ICD diagnoses of fetishism and sadomasochism.

    PubMed

    Reiersøl, Odd; Skeid, Svein

    2006-01-01

    In this article we discuss psychiatric diagnoses of sexual deviation as they appear in the International Classification of Diseases (ICD-10), the internationally accepted classification and diagnostic system of the World Health Organization (WHO). Namely, we discuss the background of three diagnostic categories: Fetishism (F65.0), Fetishistic Transvestism (F65.1), and Sadomasochism (F65.5). Pertinent background issues regarding the above categories are followed by a critique of the usefulness of diagnosing these phenomena today. Specifically, we argue that Fetishism, Fetishistic Transvestism, and Sadomasochism, also labeled Paraphilia or perversion, should not be considered illnesses. Finally, we present the efforts of an initiative known as ReviseF65, which was established in 1997, to abolish these diagnoses. PMID:16803767

  14. Transition-Aged Youths With Dual Diagnoses.

    PubMed

    Kalinyak, Christopher M; Gary, Faye A; Killion, Cheryl M; Suresky, M Jane

    2016-03-01

    The current study provides an overview of the research knowledge about unique problems encountered by transition-aged youths with dual diagnoses. A description of the considerable physical and emotional changes experienced by transition-aged youths provides a foundation for exploring the pressures and challenges compounded by mental health issues and substance abuse. Programs that provide intensive support throughout the transition years pay valuable dividends. However, transition-aged youths with dual diagnoses of mental disorders and substance abuse find themselves faced with limited or nonexistent options. There is a confusing lack of continuity and consistency of supports and services, which complicates the already perplexing circumstances that beleaguer the lives of young adults with dual diagnoses. [Journal of Psychosocial Nursing and Mental Health Services, 54(3), 48-51.]. PMID:26935191

  15. Failure to diagnose acute myocardial infarction.

    PubMed

    Bird, Sara

    2002-09-01

    Case histories are based on actual medical negligence claims, however, certain facts have been omitted or changed by the author to ensure the anonymity of the parties involved. An allegation of failure to diagnose acute myocardial infarction is a relatively common cause of medical negligence claims against general practitioners. The main factors contributing to these claims are failure to order appropriate investigations (including electrocardiograms), failure to suspect myocardial infarction, failure or delay in hospital admission and/or referral and misinterpretation of investigations. This article outlines risk management strategies for GPs to minimise the possibility of a claim arising from the failure to diagnose acute myocardial infarction. PMID:12402703

  16. Diagnosing Infectious Mononucleosis: Avoiding the Pitfalls

    PubMed Central

    McSherry, J. A.

    1985-01-01

    Infectious mononucleosis may be diagnosed with confidence only when Hoagland's diagnostic criteria have been met. The illness must be compatible with the known clinical features of infectious mononucleosis; there should be absolute and relative lymphocytosis on differential white cell count; there should be more than 20% atypical lymphocytes and serological tests should be positive—either a Paul-Bunnell Davidsohn or a rapid slide test for heterophil antibody. Failure to diagnose this common viral infection accurately may lead to inappropriate and perhaps harmful management, and may delay recognition of potentially life-threatening complications. PMID:21274039

  17. 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

  18. Isaac's Syndrome

    MedlinePlus

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

  19. Cushing's Syndrome

    MedlinePlus

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

  20. Menkes syndrome

    MedlinePlus

    ... Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It ... makes it hard for the body to distribute copper in food from the intestines into the bloodstream ...