... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Lemli-Opitz syndrome On this page: Description Genetic ... names Glossary definitions Reviewed July 2007 What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome is ...
The urinary bile acids from four patients with Smith-Lemli-Opitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species postulated to be cholenoates and cholestenoates. The finding of abnormal urinary bile acids in children with SLO syndrome led to further investigation of the cholesterol metabolic pathway and to the delineation of a new inborn error of metabolism, deficient conversion of 7-dehydrocholesterol to cholesterol [Irons et al., 1993]. The abnormalities of urinary bile acids, if confirmed by further structural analyses and studies of additional patients, provide an explanation for various aspects of the gastro-intestinal abnormalities and growth retardation noted in SLO syndrome and suggest that exogenous bile acid replacement may play an important role in the therapy of patients with this syndrome. PMID:8209917
Natowicz, M R; Evans, J E
The Smith-Lemli-Opitz syndrome is a mental retardation\\/malformation syndrome with behavioral components of autism. It is caused by a deficiency in 3?-hydroxysteroid-?7-reductase (DHCR7), the enzyme required for the terminal enzymatic step of cholesterol biosynthesis. The availability of Smith-Lemli-Opitz syndrome mouse models has made it possible to investigate the genesis of the malformations associated with this syndrome. Dhcr7 gene modification (Dhcr7–\\/–) results
H. Waage-Baudet; W. C. Dunty Jr.; D. B. Dehart; S. Hiller; K. K. Sulik
The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder. PMID:23042585
Diaz-Stransky, Andrea; Tierney, Elaine
The RSH\\/Smith–Lemli–Opitz syndrome (SLOS) is a multiple malformation\\/mental retardation syndrome caused by an inborn error of cholesterol synthesis. Mutations in the 3?-hydroxysteroid ?7-reductase gene result in impaired enzymatic reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. Cells obtain cholesterol by either de novo synthesis or from exogenous sources by the binding and uptake of low density lipoprotein (LDL) particles. Because de novo
Christopher A. Wassif; Donna Vied; Maria Tsokos; William E. Connor; Robert D. Steiner; Forbes D. Porter
We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement. PMID:16831310
Domizio, S; Pallotta, R; Romanelli, A; Puglielli, C; Pollice, R; Casacchia, M; Conte, E; Domizio, R; Sabatino, G
Objectives: To determine whether type I and the more severe type II variant of Smith-Lemli-Opitz syndrome have the same metabolic defect and to learn which plasma sterol measurements best predict survival. Methods: Plasma sterols were measured in 33 individuals (24 type I, 9 type II) with a clinical diagnosis of the syndrome. Results: Cholesterol levels were abnormally low (61 ±
G. S. Tint; Gerald Salen; Ashok K. Batta; Sarah Shefer; Mira Irons; Ellen Roy Elias; Dianne N. Abuelo; Virginia P. Johnson; Marie Lambert; Richard Lutz; Carolyn Schanen; Colleen A. Morris; George Hoganson; Rhiannon Hughes-Benzie
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies and surgical interventions, as well as directions for future therapies and treatment research.
Svoboda, Melissa D.; Christie, Jill M.; Eroglu, Yasemen; Freeman, Kurt A.; Steiner, Robert D.
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome characterized biochemically by low plasma cholesterol levels and high concentrations of the cho- lesterol precursor 7dehydrocholesterol. The present study was undertaken to prove that the enzyme defect is at the step in which 7dehydrocholesterol is converted into cholesterol and to establish a new biochemical method for the diagnosis of this disease.
Akira Honda; G. S. Tint; Gerald Salen; Ashok K. Batta; Thomas S. Chen; Sarah Shefer
Objective To study challenging behavior (destruction, aggression, self-injury, stereotypy) in children with Smith-Lemli-Opitz syndrome (SLOS) using a biobehavioral model that helps distinguish biological from socially mediated variables influencing the behavior. Background SLOS is an autosomal-recessive syndrome of multiple malformations and intellectual disability resulting from a genetic error in cholesterol synthesis in all cells and tissues, including brain. The exact cause of the challenging behavior in SLOS is unclear, but defective brain cholesterol synthesis may contribute. Because the precise genetic and biochemical etiology of SLOS is known, this disorder is a good model for studying biological causes of challenging behavior. Method In a preliminary application of a biobehavioral model, we studied the association between cholesterol levels (as a biochemical indicator of disease severity) and behavior subtype (“biological” vs “learned”) in 13 children with SLOS. Parents completed a questionnaire that categorized challenging behavior as influenced primarily by social or nonsocial (thus, presumably biological) factors. Results The severity of the cholesterol synthesis defect correlated significantly with behavior subtype classification for 1 of 2 challenging behaviors. Greater severity of the cholesterol synthesis defect was associated with behavior being classified as primarily influenced by biological factors. Conclusion The interplay between challenging behavior and defective cholesterol synthesis in SLOS may help explain biological influences on the behavior. Our findings have implications for research on the effectiveness of behavioral and medical treatments for behavioral difficulties in SLOS and other neurodevelopmental disorders.
Freeman, Kurt A.; Eagle, Rose; Merkens, Louise S.; Sikora, Darryn; Pettit-Kekel, Kersti; Nguyen-Driver, Mina; Steiner, Robert D.
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3?-hydroxysterol-?7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are susceptible to peroxidation reactions, and several biologically active DHC oxysterols are found in cell and animal models of SLOS. Ex vivo oxidation of DHCs can be a confounding factor in the analysis of these sterols and their esters, and we developed HPLC/MS methods that permit the direct analysis of cholesterol, 7-DHC, 8-DHC, and their esters in human plasma, thus avoiding ex vivo oxidation. In addition, three oxysterols were classified as endogenously formed products by the use of an isotopically-labeled 7-DHC (d7-7-DHC) added to the sample before workup, followed by MS analysis of products formed. Analysis of 17 SLOS plasma samples shows that 8-DHC linoleate correlates better with the SLOS severity score of the patients than other sterols or metabolites, including cholesterol and 7-DHC. Levels of 7-ketocholesterol also correlate with the SLOS severity score. 8-DHC esters should have utility as surrogate markers of severity in SLOS for prognostication and as endpoints in clinical trials.
Liu, Wei; Xu, Libin; Lamberson, Connor R.; Merkens, Louise S.; Steiner, Robert D.; Elias, Ellen R.; Haas, Dorothea; Porter, Ned A.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome with cognitive impairment and a distinct behavioral phenotype that includes autistic features. SLOS is caused by a defect in 3?-hydroxysterol ?(7)-reductase which leads to decreased cholesterol levels and elevated cholesterol precursors, specifically 7- and 8-dehydrocholesterol. However, the pathological processes contributing to the neurological abnormalities in SLOS have not been defined. In view of prior data suggesting defects in SLOS in vesicular release and given the association of altered serotonin metabolism with autism, we were interested in measuring neurotransmitter metabolite levels in SLOS to assess their potential to be used as biomarkers in therapeutic trials. We measured cerebral spinal fluid levels of serotonin and dopamine metabolites, 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) respectively, in 21 SLOS subjects. Results were correlated with the SLOS anatomical severity score, Aberrant Behavior Checklist scores and concurrent sterol biochemistry. Cerebral spinal fluid (CSF) levels of both 5HIAA and HVA were significantly reduced in SLOS subjects. In individual patients, the levels of both 5HIAA and HVA were reduced to a similar degree. CSF neurotransmitter metabolite levels did not correlate with either CSF sterols or behavioral measures. This is the first study demonstrating decreased levels of CSF neurotransmitter metabolites in SLOS. We propose that decreased levels of neurotransmitters in SLOS are caused by a sterol-related defect in synaptic vesicle formation and that CSF 5HIAA and HVA will be useful biomarkers in development of future therapeutic trials. PMID:24500076
Sparks, S E; Wassif, C A; Goodwin, H; Conley, S K; Lanham, D C; Kratz, L E; Hyland, K; Gropman, A; Tierney, E; Porter, F D
Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase gene (DHCR7). During de novo cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7-dehydrocholesterol. Phenotypic severity of SLOS has previously been shown to correlate with the 7DHC/cholesterol ratio. In this case report, we describe a patient with a severe SLOS phenotype, but a very low serum 7DHC/cholesterol ratio. We further demonstrate that this discordance is due to alternative splicing of a previously unreported IVS5+3 A>T mutation. This mutation results in the transcription of both normal and mutant mRNA transcripts. We postulate that alternative splicing of the IVS5+3 A>T results in insufficient DHCR7 activity during embryogenesis, but sufficient DHCR7 activity once cholesterol synthetic rates decrease postnatally. This case is a unique observation that underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis.
Koo, Grace; Conley, Sandra K.; Wassif, Christopher A.; Porter, Forbes D.
Purpose To evaluate cone and cone-driven retinal function in patients with Smith-Lemli-Opitz syndrome (SLOS), a condition characterized by low cholesterol. Rod and rod-driven function in SLOS patients are known to be abnormal. Methods Electroretinographic (ERG) responses to full-field stimuli presented on a steady, rod suppressing background were recorded in 13 patients who had received long term cholesterol supplementation. Cone photoresponse sensitivity (SCONE) and saturated amplitude (RCONE) parameters were estimated using a model of the activation of phototransduction, and post-receptor b-wave and 30 Hz flicker responses were analyzed. The responses of the patients were compared to those of control subjects (N=13). Results Although average values of both SCONE and RCONE were lower than in controls, the differences were not statistically significant. Post-receptor b-wave amplitude and implicit time and flicker responses were normal. Conclusions The normal cone function contrasts with the significant abnormalities in rod function that were found previously in these same patients. Possibly cholesterol supplementation has a greater protective effect on cones than rods as has been demonstrated in the rat model of SLOS.
Garry, Deirdre; Hansen, Ronald M.; Moskowitz, Anne; Elias, Ellen R.; Irons, Mira; Fulton, Anne B.
Smith-Lemli-Opitz Syndrome (SLOS) is a recessive hereditary disease caused by a defect in the last step in cholesterol biosynthesis— the reduction of the ?7 double bond of 7-dehydrocholesterol (7DHC)— resulting in the abnormal accumulation of 7DHC and diminished levels of Chol in all bodily tissues. Treatment of rats with AY9944— a drug that inhibits the same enzyme that is genetically defective in SLOS (i.e., DHCR7, 3?-hydroxysterol-?7-reductase)— starting in utero and continuing throughout postnatal life, provides a convenient animal model of SLOS for understanding the disease mechanism and also for testing the efficacy of therapeutic intervention strategies. Herein, the biochemical, morphological, and electrophysiological hallmarks of retinal degeneration in this animal model are reviewed. A high-cholesterol diet partially ameliorates the associated visual function deficits, but not the morphological degeneration. Recent studies using this model suggest that the disease mechanism in SLOS goes well beyond the initial cholesterol pathway defect, including global metabolic alterations, lipid and protein oxidation, and differential expression of hundreds of genes in multiple ontological gene families. These findings may have significant implications with regard to developing more optimal therapeutic interventions for managing SLOS patients.
Fliesler, Steven J.
Smith-Lemli-Opitz syndrome (SLOS; MIM 270400) is a genetic disorder characterized by hypocholesterolemia and elevated 7-dehydrocholesterol (7DHC) levels resulting from mutations affecting 7-dehydrocholesterol reductase. We describe a colorimetric assay for 7DHC with potential application to large-scale screening for SLOS. Reaction of 7DHC and its esters with the Liebermann-Burchard reagent resulted in a brief initial absorbance at 510 nm (pink color) followed by an absorbance at 620 nm (blue color) after 2 min, while cholesterol samples were essentially colorless. The assay could identify typical SLOS blood samples by their pink color and increased absorbance at 620 nm after 2 min. Colorimetric identification of mild SLOS cases requires monitoring of the transient absorbance at 510 nm, which must be detected immediately after rapid, consistent mixing of the reagents. The need for special mixing devices and rigorous validation precludes sporadic use of the assay for diagnosing suspected SLOS cases. We also studied the stability of 7DHC in dried SLOS blood spots on Guthrie cards, which are widely used for archiving neonatal blood. Decomposition of 7DHC was effectively retarded by storage at low temperature and by precoating of the cards with antioxidants. The combined results provide a foundation for development of a simple, automated test for SLOS screening. PMID:12047895
Xiong, Quanbo; Ruan, Benfang; Whitby, Frank G; Tuohy, Richard P; Belanger, Thomas L; Kelley, Richard I; Wilson, William K; Schroepfer, George J
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7). This reductase catalyzes the last step in cholesterol biosynthesis, and levels of 7-dehydrocholesterol (7-DHC), the substrate for this enzyme, are elevated in SLOS patients as a result of this defect. Our group has previously shown that 7-DHC is extremely prone to free radical autoxidation, and we identified about a dozen different oxysterols formed from oxidation of 7-DHC. We report here that 7-DHC-derived oxysterols reduce cell viability in a dose- and time-dependent manner, some of the compounds showing activity at sub-micromolar concentrations. The reduction of cell survival is caused by a combination of reduced proliferation and induced differentiation of the Neuro2a cells. The complex 7-DHC oxysterol mixture added to control Neuro2a cells also triggers the gene expression changes that were previously identified in Dhcr7-deficient Neuro2a cells. Based on the identification of overlapping gene expression changes in Dhcr7-deficient and 7-DHC oxysterol-treated Neuro2a cells, we hypothesize that some of the pathophysiological findings in the mouse SLOS model and SLOS patients might be due to accumulated 7-DHC oxysterols.
Korade, Zeljka; Xu, Libin; Shelton, Richard; Porter, Ned A.
The level of 7-dehydrocholesterol (7-DHC) is elevated in tissues and fluids of Smith-Lemli-Opitz syndrome (SLOS) patients due to defective 7-DHC reductase. Although over a dozen oxysterols have been identified from 7-DHC free radical oxidation in solution, oxysterol profiles in SLOS cells and tissues have never been studied. We report here the identification and complete characterization of a novel oxysterol, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), as a biomarker for 7-DHC oxidation in fibroblasts from SLOS patients and brain tissue from a SLOS mouse model. Deuterated (d7)-standards of 7-DHC and DHCEO were synthesized from d7-cholesterol. The presence of DHCEO in SLOS samples was supported by chemical derivatization in the presence of d7-DHCEO standard followed by HPLC-MS or GC-MS analysis. Quantification of cholesterol, 7-DHC, and DHCEO was carried out by isotope dilution MS with the d7-standards. The level of DHCEO was high and correlated well with the level of 7-DHC in all samples examined (R = 0.9851). Based on our in vitro studies in two different cell lines, the mechanism of formation of DHCEO that involves 5?,6?-epoxycholest-7-en-3?-ol, a primary free radical oxidation product of 7-DHC, and 7-cholesten-3?,5?,6?-triol is proposed. In a preliminary test, a pyrimidinol antioxidant was found to effectively suppress the formation of DHCEO in SLOS fibroblasts.
Xu, Libin; Korade, Zeljka; Rosado, Dale A.; Liu, Wei; Lamberson, Connor R.; Porter, Ned A.
Smith-Lemli-Opitz syndrome (SLOS) is a recessive disease characterized by markedly elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in tissues and fluids of affected individuals, due to defective 3?-hydroxysterol-?7-reductase (Dhcr7). Treatment of Sprague-Dawley rats with AY9944 (an inhibitor of Dhcr7) leads to similar biochemical features as observed in SLOS. Eighteen oxysterols previously have been identified as oxidation products of 7-DHC (most of them distinct from cholesterol (Chol)-derived oxysterols) in solution, in cells, and in brains obtained from Dhcr7-KO mice and AY9944-treated rats, formed either via free radical oxidation (peroxidation) or P450-catalyzed enzymatic oxidation. We report here the identification of five 7-DHC-derived oxysterols, including 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), 4?- and 4?-hydroxy-7-DHC, 24-hydroxy-7-DHC and 7-ketocholesterol (7-kChol, an oxysterol that is normally derived from Chol), in the retinas of AY9944-treated rats by comparing the retention times and mass spectrometric characteristics with corresponding synthetic standards in HPLC-MS analysis. Levels of 4?- and 4?-hydroxy-7-DHC, DHCEO, and 7-kChol were quantified using d7-DHCEO as an internal standard. Among the five oxysterols identified, only 7-kChol was observed in retinas of control rats, but the levels of 7-kChol in retinas of AY9944-rats were >30-fold higher. Intravitreal injection of 7-kChol (0.25 µmol) into a normal rat eye induced panretinal degeneration within one week; by comparison, contralateral (control) eyes injected with vehicle alone exhibited normal histology. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the retinal degeneration associated with the SLOS rat model and in SLOS patients.
Xu, Libin; Sheflin, Lowell G.; Porter, Ned A.; Fliesler, Steven J.
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.
Wallace, M.; Zori, R.T.; Alley, T.; Whidden, E.; Gray, B.A.; Williams, C.A. [Univ. of Florida College of Medicine, Gainesville, FL (United States)
We describe a family in which one male infant presented with Miller-Dieker syndrome and four male relatives had a phenotype similar to the Smith-Lemli-Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller-Dieker syndrome showed 46,XY,-17,+der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46,XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46,XY,-7,+der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included. PMID:2596525
Berry, R; Wilson, H; Robinson, J; Sandlin, C; Tyson, W; Campbell, J; Porreco, R; Manchester, D
The phase behavior of egg sphingomyelin (ESM) mixtures with cholesterol or 7-dehydrocholesterol (7-DHC) has been investigated by independent methods: fluorescence microscopy, X-ray diffraction, and electron spin resonance spectroscopy. In giant vesicles, cholesterol-enriched domains appeared as large and clearly delineated domains assigned to a liquid-ordered (Lo) phase. The domains containing 7-DHC were smaller and had more diffuse boundaries. Separation of a gel phase assigned by X-ray examination to pure sphingomyelin domains coexisting with sterol-enriched domains was observed at temperatures less than 38°C in binary mixtures containing 10-mol% sterol. At higher sterol concentrations, the coexistence of liquid-ordered and liquid-disordered phases was evidenced in the temperature range 20°–50°C. Calculated electron density profiles indicated the location of 7-DHC was more loosely defined than cholesterol, which is localized precisely at a particular depth along the bilayer normal. ESR spectra of spin-labeled fatty acid partitioned in the liquid-ordered component showed a similar, high degree of order for both sterols in the center of the bilayer, but it was higher in the coexisting disordered phase for 7-DHC. The differences detected in the models of the lipid membrane matrix are said to initiate the deleterious consequences of the Smith-Lemli-Opitz syndrome.
Staneva, Galya; Chachaty, Claude; Wolf, Claude; Quinn, Peter J.
A highly efficient and improved method for the preparation of stereoisomeric 4?- and 4?-hydroxy-7-dehydrocholesterol has been developed. These oxysterols are atypical precursors of cholesterol found to be present in increased concentrations in brain, liver, and serum of animals treated with AY9944, an inhibitor of 3?-hydroxysterol-?(7)-reductase (Dhcr7). AY9944 -treated rats are considered a model for Smith-Lemli-Opitz syndrome (SLOS). The principal reactions involved were (1) cis-4?,5?-dihydroxylation of the allylic 3?-acetoxy-?(4) intermediate with in situ generated RuO4 and subsequent dehydration with SOCl2, (2) direct 4?-hydroxylation of cholesterol with selenium dioxide, and (3) regioselective dehydrogenation at C-7/-8 of the resulting 4?- and 4?-hydroxylated derivatives with 1,3-dibromo-5,5-dimethylhydantoin/azobisisobutyronitrile, followed by tetrabutyl ammonium bromide/tetrabutyl ammonium fluoride. Chemical instability of these 4-hydroxylated 7-dehydrocholesterols when exposed to UV light, heat or in an acidic medium is briefly discussed. PMID:23920082
Kawamoto, Hiroaki; Ohmori, Yuusuke; Maekawa, Masamitsu; Shimada, Miki; Mano, Nariyasu; Iida, Takashi
The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM 270400]) is an autosomal recessive multiple malformation syndrome due to a defect in cholesterol biosynthesis. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and typically have low serum cholesterol levels. On the basis of this biochemical abnormality, it has been proposed that mutations in the human sterol Delta7-reductase (7-DHC reductase; E.C.22.214.171.124) gene cause SLOS. However, one could also propose a defect in a gene that encodes a protein necessary for either the expression or normal function of sterol Delta7-reductase. We cloned cDNA encoding a human sterol Delta7-reductase (DHCR7) on the basis of its homology with the sterol Delta7-reductase from Arabidopsis thaliana, and we confirmed the enzymatic function of the human gene product by expression in SLOS fibroblasts. SLOS fibroblasts transfected with human sterol Delta7-reductase cDNA showed a significant reduction in 7-DHC levels, compared with those in SLOS fibroblasts transfected with the vector alone. Using radiation-hybrid mapping, we show that the DHCR7 gene is encoded at chromosome 11q12-13. To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. In three unrelated patients we have identified four different mutant alleles. Our results demonstrate both that the cDNA that we have identified encodes the human sterol Delta7-reductase and that mutations in DHCR7 are responsible for at least some cases of SLOS.
Wassif, C A; Maslen, C; Kachilele-Linjewile, S; Lin, D; Linck, L M; Connor, W E; Steiner, R D; Porter, F D
In this study the sterol and oxysterol profile of newborn brain from the Dhcr7?3-5/T93M mouse model of Smith–Lemli–Opitz syndrome (SLOS) has been investigated. This is a viable mouse model which is compound heterozygous containing one null allele and one T93M mutation on Dhcr7. We find the SLOS mouse has reduced levels of cholesterol and desmosterol and increased levels of 7- and 8-dehydrocholesterol and of 7- and 8-dehydrodesmosterol in brain compared to the wild type. The profile of enzymatically formed oxysterols in the SLOS mouse resembles that in the wild type but the level of 24S-hydroxycholesterol, the dominating cholesterol metabolite, is reduced in a similar proportion to that of cholesterol. A number of oxysterols abundant in the SLOS mouse are probably derived from 7-dehydrocholesterol, however, the mechanism of their formation is unclear.
Meljon, Anna; Watson, Gordon L.; Wang, Yuqin; Shackleton, Cedric H.L.; Griffiths, William J.
The National Institute of Child Health and Human Development, Section Molecular Dysmorphology is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize therapeutics that inhibit sphingolipid biosynthesis.
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.
Pineda-Alvarez, Daniel E.; Dubourg, Christele; David, Veronique; Roessler, Erich; Muenke, Maximilian
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.
Porter, Forbes D.; Herman, Gail E.
Human disorders caused by inborn errors of cholesterol biosynthesis are characterized by dysmorpho- genesis of multiple organs. This includes limb malformations that are observed at high frequency in some disorders, such as the Smith-Lemli-Opitz syndrome, indicating a pivotal role of cholesterol in limb morphogenesis. Recently, it has been demonstrated that cholesterol can modulate the activity of the Hedgehog proteins, that
Francoise Gofflot; Carine Hars; Francoise Illien; Francoise Chevy; Claude Wolf; Jacques J. Picard; Charles Roux
Eukaryotic cells require sterols to achieve normal structure and function of their plasma membranes, and deviations from normal sterol composition can perturb these features and compromise cellular and organism viability. The Smith–Lemli–Opitz syndrome (SLOS) is a hereditary metabolic disease involving cholesterol (CHOL) deficiency and abnormal accumulation of the CHOL precursor, 7-dehydrocholesterol (7DHC). In this study, the interactions of CHOL and
Erin E. Berring; Kimberly Borrenpohl; Steven J. Fliesler; Alexa Barnoski Serfis
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.
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 measures to bring his disease under control.
Rogers, S A
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
Yang, S P; Bidichandani, S I; Figuera, L E; Juyal, R C; Saxon, P J; Baldini, A; Patel, P I
Background: Piriformis syndrome (PS), a rare cause of sciatica, is usually diagnosed only after excluding all other possibilities. But this principle is being challenged because of the number of patients with PS who have had ineffective lumbar decompressive surgery after positive findings on image study. Methods: From 2001 to 2004, twelve patients with piriformis syndrome diagnosed by physical examination were
Chi-Chien Niu; Po-Liang Lai; Tsai-Sheng Fu; Lih-Huei Chen; Wen-Jer Chen
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.
Rogers, S.A. (Northeast Center for Environmental Medicine, Syracuse, NY (USA))
Apparatus, systems, and methods for diagnosing carpal tunnel syndrome ('CTS') are provided. Pressure on the median nerve at the wrist can lead to decreased tactile sensitivity in the fingertips. People with CTS may often experience numbness, tingling, and...
D. S. Bloswick R. F. Sesek R. P. Tuckett S. K. Reese
Myocarditis is among the cardiac complications of acquired immunodeficiency syndrome and, yet, is often not discovered until autopsy. Gallium scintigraphy has been employed in diagnosing this entity, but few data are available about its diagnostic accuracy and value. Here, the authors report two cases of myopericarditis as diagnosed by gallium scan.
Cregler, L.L.; Sosa, I.; Ducey, S.; Abbey, L. (Bronx VA Medical Center, NY (USA))
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
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
Background: The percentage of patients initially diagnosed with a conversion disorder and later identified as having an organic disorder has been decreasing in recent studies. Method: Consecutive patients with a diagnosis of conversion disorder were referred for psychiatric diagnosis and treatment. Research questions were: (1) What incidence of neurological disorder is revealed by neurological reassessment and by which diagnostic technique
Franny C. Moene; Erik H. Landberg; Kees A. L. Hoogduin; Philip Spinhoven; Leopold I. Hertzberger; Ruud P. Kleyweg; Jacques Weeda
In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder (phenylketonuria (n = 5), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and mucopolysaccharidosis type VII (Sly syndrome) (n = 1)) was diagnosed in the past. The abnormal metabolic findings in this group of 313 patients were classified in three categories and the clinical findings are reported: 1. metabolic disorders as the cause of mental retardation (MR), 2. metabolic disorders not explaining the MR, and 3. metabolic abnormalities of unknown significance. The first two groups included 16 patients, i.e. 26.2% of the group of monogenic disorders and 3.4% of the total population: phenylketonuria (PKU) (n = 5), S-sulfocysteinuria (n = 3), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and Gm1-gangliosidosis type 3 (n = 1) (first group), and mucopolysaccharidosis type VII (Sly syndrome) (n = 1), Niemann-Pick syndrome, type B (n = 1), cystinuria (n = 1) and hyperprolinemia type 1 (n = 3) (second group). The third group included patients with citrullinemia (n = 2), methionine sulphoxide reductase deficiency (n = 1), ornithinemia (n = 1), glycinuria (n = 20), neuraminaciduria (n = 8), uraciluria (n = 6) and diabetes mellitus (n = 2). Screening for Congenital Disorders of Glycosylation (CDG) in 144 patients and for Smith-Lemli-Opitz syndrome (SLO) in a selected group of 6 patients was normal. Of the total group of 306 patients screened for inborn errors of metabolism, only 5 (1.6%) were found with a true metabolic disorder. These 5 patients presented clinical symptoms, neurodegenerative or behavioural problems, indicating further metabolic screening. The present study illustrates that a selected group of patients with mental retardation of unknown origin are candidates for metabolic screening, especially if aberrant behaviour, neurodegenerative problems or dysmorphic features are present. PMID:11332972
Van Buggenhout, G J; Trijbels, J M; Wevers, R; Trommelen, J C; Hamel, B C; Brunner, H G; Fryns, J P
Carpal Tunnel Syndrome (CTS) is the most common peripheral nerve entrapment. In the diagnosis of Carpal Tunnel Syndrome, velocity is determined by either measuring the average velocity over a segment by dividing the distance by the difference in latencies. Polynomial interpolation can determine the velocity at any point along a nerve. Applying interpolation techniques correctly classified 58/60 electrophysiologically proven CTS cases (96.7%) and 36/38 normals (94.7%). Of 7 cases with CTS by standard sensory criteria alone, 6 (86%) had abnormal motor conduction using the interpolation technique. This shows that interpolation techniques can improve diagnostic accuracy in CTS. It also indicates that there is motor involvement in most cases of CTS, including a majority of cases previously classified as only sensory involvement. PMID:15473352
Bodofsky, E B
Schnitzler syndrome is considered to be a rare disorder characterized by a monoclonal IgM protein and chronic urticaria that is associated with considerable morbidity. We hypothesized that the syndrome may be under-recognized and patients may be deprived of highly effective therapy in the form of anakinra. We performed a retrospective search of the dysproteinemia database at Mayo Clinic as well as the medical records of all patients with chronic urticaria to determine the true incidence of the disease. We compared patients with the diagnosis of Schnitzler syndrome and those who met the criteria but in whom the syndrome was not recognized. Comparisons between groups were performed and survival curves determined. We identified 16 patients with diagnosed Schnitzler syndrome and an additional 46 patients who met diagnostic criteria. The monoclonal protein was IgM? in 94% of patients. Therapy with anakinra in 4 patients led to rapid and complete resolution of symptoms. The median overall survival for this syndrome is over 12.8 years. Progression to lymphoma was only observed in 8% of patients; this is lower than previous reports. Schnitzler syndrome may be present in up to 1.5% of patients with a monoclonal IgM in their serum and likely under-recognized as a clinical syndrome.
Jain, Tania; Offord, Chetan P.; Kyle, Robert A.; Dingli, David
CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
Lee, Seung Kyung; Lee, Min Jeong; Lee, Hyo Jin; Kim, Bu Kyung; Sohn, Young Bae
Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. PMID:22581420
Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett
Emergency Department (ED) data are key components of syndromic surveillance systems. While diagnosis data are widely available in electronic form from EDs and often used as a source of clinical data for syndromic surveillance, our previous survey of North Carolina EDs found that the data were not available in a timely manner for early detection. The purpose of this study was to measure the time of availability of participating EDs’ diagnosis data in a state-based syndromic surveillance system. We found that a majority of the ED visits transmitted to the state surveillance system for 12/1/05 did not have a diagnosis until more than a week after the visit. Reasons for the lack of timely transmission of diagnoses included coding problems, logistical issues and the lack of IT personnel at smaller hospitals.
Travers, Debbie; Barnett, Clifton; Ising, Amy; Waller, Anna
Background Community clinics offer potential for timelier outbreak detection and monitoring than emergency departments. However, the accuracy of syndrome definitions used in surveillance has never been evaluated in community settings. This study's objective was to assess the accuracy of syndrome definitions based on diagnostic codes in physician claims for identifying 5 syndromes (fever, gastrointestinal, neurological, rash, and respiratory including influenza-like illness) in community clinics. Methods We selected a random sample of 3,600 community-based primary care physicians who practiced in the fee-for-service system in the province of Quebec, Canada in 2005-2007. We randomly selected 10 visits per physician from their claims, stratifying on syndrome type and presence, diagnosis, and month. Double-blinded chart reviews were conducted by telephone with consenting physicians to obtain information on patient diagnoses for each sampled visit. The sensitivity, specificity, and positive predictive value (PPV) of physician claims were estimated by comparison to chart review. Results 1,098 (30.5%) physicians completed the chart review. A chart entry on the date of the corresponding claim was found for 10,529 (95.9%) visits. The sensitivity of syndrome definitions based on diagnostic codes in physician claims was low, ranging from 0.11 (fever) to 0.44 (respiratory), the specificity was high, and the PPV was moderate to high, ranging from 0.59 (fever) to 0.85 (respiratory). We found that rarely used diagnostic codes had a higher probability of being false-positives, and that more commonly used diagnostic codes had a higher PPV. Conclusions Future research should identify physician, patient, and encounter characteristics associated with the accuracy of diagnostic codes in physician claims. This would enable public health to improve syndromic surveillance, either by focusing on physician claims whose diagnostic code is more likely to be accurate, or by using all physician claims and weighing each according to the likelihood that its diagnostic code is accurate.
A 26-year-old woman presented with general fatigue, persistent fever, nuchal lymphadenitis, thrombocytopenia, and liver damage.\\u000a From the bone marrow finding, we diagnosed her condition as hemophagocytic syndrome. Steroid pulse therapy, cyclosporin A\\u000a treatment, and combined chemotherapy generated no response. The patient showed severe mucosal bleeding, rapidly experienced\\u000a multiple organ failure, and finally died of a brain hemorrhage on the 13th
Tsuyoshi Muta; Yujiro Yamano
Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple congenital malformations, mental retardation, and autism spectrum behaviors. This clinical protocol was part of a larger study investigating the effects of a cholesterol-lowering medication for SLOS patients. Behavioral therapists were consulted to facilitate participants’ cooperation with an overnight electroencephalogram (EEG). Seventeen children participated in one 1-hour training session of a mock EEG. Behavioral methods included task analysis, differential reinforcement, and escape extinction. Descriptive data reveal low cognitive and adaptive functioning. Fifty three percent of children tolerated all steps of the training procedure and 88% of participants tolerated all of the actual EEG procedure. Behavioral methods of training children may be an effective preparation for EEG procedures for children with SLOS. This study indicates that sedation, anesthesia, or restraints are not necessary to accomplish EEG testing of children with SLOS. Results may generalize to children with a range of disabilities.
Cataldo, Marilyn; Tierney, Elaine; Slifer, Keith
Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple congenital malformations, mental retardation, and autism spectrum behaviors. This clinical protocol was part of a larger study investigating the effects of a cholesterol-lowering medication for SLOS patients. Behavioral therapists were consulted to facilitate participants' cooperation with an overnight electroencephalogram (EEG). Seventeen children participated in one 1-hour training session of a mock EEG. Behavioral methods included task analysis, differential reinforcement, and escape extinction. Descriptive data reveal low cognitive and adaptive functioning. Fifty three percent of children tolerated all steps of the training procedure and 88% of participants tolerated all of the actual EEG procedure. Behavioral methods of training children may be an effective preparation for EEG procedures for children with SLOS. This study indicates that sedation, anesthesia, or restraints are not necessary to accomplish EEG testing of children with SLOS. Results may generalize to children with a range of disabilities. PMID:20617101
Demore, Melissa; Cataldo, Marilyn; Tierney, Elaine; Slifer, Keith
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;q13.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint region. 11 refs., 1 fig.
Alley, T.L.; Wallace, M.R. [Univ. of Florida, Gainesville, FL (United States)] [Univ. of Florida, Gainesville, FL (United States); Scherer, S.W. [Univ. of Toronto (Canada)] [and others] [Univ. of Toronto (Canada); and others
Photosensitive disorders may be classified as those entirely caused by solar exposure and the photoaggravated disorders. Those in the former category include polymorphic light eruption, juvenile spring eruption, actinic prurigo, hydroa vacciniforme, solar urticaria, also chronic actinic dermatitis. Genodermatoses whose expression mainly depends on UV or light exposure include the DNA repair deficient disorders, some disorders of cornification, the Smith-Lemli-Opitz syndrome and porphyria. Examples of photoaggravated diseases include lupus erythematosus, erythema multiforme, atopic eczema, psoriasis, viral exanthemata, pemphigus, dermatitis herpetiformis and rosacea. Drugs and chemicals may interact with UV to induce photosensitivity. In many of these diseases the action spectrum is known or may be determined by phototesting. Recognition of the reaction patterns associated with the photodermatoses greatly assists clinical classification of the photodermatoses. PMID:11744394
Murphy, G M
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)
As publications on craniofacial anomalies, malocclusions and dental complications recognised in patients suffering from Moebius syndrome are scarce, the authors of this paper decided to discuss the above aspects in broader terms along with the possibilities offered by orthodontic treatment. The etiology of Moebius syndrome has not hitherto been discovered, however the opinion prevails that it is brought on by multiple factors and conditions. In the analysed case, Moebius syndrome was diagnosed only when the patient was 6 years old. Based on the clinical examination, typical characteristics of the syndrome were observed: craniofacial dysmorphism as well as foot development disorder in the form of talipes equinovarus (club foot). Moreover, Type II Angle's classification of malocclusion was detected - crowded teeth in the mandible and maxilla and hypoplastic enamel. Cephalometric analysis identified retruded position of the mandible against the cranial base, protruded position of the maxilla, shortening of posterior face height, protrusion of incisors in the maxilla. The orthopantomogram showed the presence of all permanent teeth. At the beginning of the orthodontic treatment removable appliances were used, but despite good cooperation on the part of the patient, only a slight improvement was observed. Further orthodontic treatment envisaged extraction of permanent teeth and use of fixed appliances while waiting for the improvement of occlusion. PMID:23378405
Cudzi?o, Dorota; Ob?oj, Barbara; Obersztyn, Ewa; Bocian, Ewa; Matthews-Brzozowska, Teresa
Background The acute respiratory distress syndrome (ARDS) is a common, devastating complication of critical illness that is characterized by pulmonary injury and inflammation. The clinical diagnosis may be improved by means of objective biological markers. Electronic nose (eNose) technology can rapidly and non–invasively provide breath prints, which are profiles of volatile metabolites in the exhaled breath. We hypothesized that breath prints could facilitate accurate diagnosis of ARDS in intubated and ventilated intensive care unit (ICU) patients. Methods Prospective single-center cohort study with training and temporal external validation cohort. Breath of newly intubated and mechanically ventilated ICU-patients was analyzed using an electronic nose within 24 hours after admission. ARDS was diagnosed and classified by the Berlin clinical consensus definition. The eNose was trained to recognize ARDS in a training cohort and the diagnostic performance was evaluated in a temporal external validation cohort. Results In the training cohort (40 patients with ARDS versus 66 controls) the diagnostic model for ARDS showed a moderate discrimination, with an area under the receiver–operator characteristic curve (AUC–ROC) of 0.72 (95%–confidence interval (CI): 0.63-0.82). In the external validation cohort (18 patients with ARDS versus 26 controls) the AUC–ROC was 0.71 [95%–CI: 0.54 – 0.87]. Restricting discrimination to patients with moderate or severe ARDS versus controls resulted in an AUC–ROC of 0.80 [95%–CI: 0.70 – 0.90]. The exhaled breath profile from patients with cardiopulmonary edema and pneumonia was different from that of patients with moderate/severe ARDS. Conclusions An electronic nose can rapidly and non–invasively discriminate between patients with and without ARDS with modest accuracy. Diagnostic accuracy increased when only moderate and severe ARDS patients were considered. This implicates that breath analysis may allow for rapid, bedside detection of ARDS, especially if our findings are reproduced using continuous exhaled breath profiling. Trial registration NTR2750, registered 11 February 2011.
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…
Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr.
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…
Nieuwenhuis-Mark, Ruth E.
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
Benacerraf, Beryl B
Transverse sacral fractures in young patients occur with high-energy mechanisms. Because of the drawbacks in radiographic and neurologic evaluations of the sacral area in polytrauma patients, misdiagnosis is quite common. In this study, we aimed to report our clinical results in three patients with displaced transverse sacral fractures compromising the sacral canal and concomitant late-diagnosed (at least 48 hours) cauda equina syndrome. Bilateral lumbopelvic fixation, followed by sacral laminectomy and decompression, was performed in all patients. Despite the late- diagnosed cauda equina syndrome, we observed that surgical decompression and lumbopelvic fixation had positive effects on neurologic recovery, pain relief and early unsupported mobilization. PMID:24639321
Bekmez, Senol; Demirk?ran, Gökhan; Caglar, Omür; Akel, Ibrahim; Acaro?lu, Emre
We report an asymptomatic mother of a cutaneous neonatal lupus child was diagnosed with Sjögren's syndrome suspected after parturition. A 30-year old woman was visited our hospital to evaluated autoimmune disease because her baby was diagnosed as cutaneous neonatal lupus. Both gum test and Schirmer's test were positive. Antinuclear antibody, anti-SS-A and anti-SS-B antibody were positive. Serum IgG was elevated (2918 mg/dl). Finally, this case was suspected as Sjögren's syndrome. Continuoues follow-up of asymptomatic mothers of a neonatal lupus child is warranted. PMID:20601836
Nanke, Yuki; Yago, Toru; Kotake, Shigeru
The Shone's complex, defined by four cardiovascular defects such as a supravalvular mitral membrane, valvular mitral stenosis by a parachute mitral valve, subaortic stenosis, and aortic coarctation, is a rare entity, which occurs most frequently in its incomplete form. We report the case of a 19-year-old female patient who presented at the emergency room for progressively worsening dyspnoea, orthopnoea, fever, and productive cough, due to bronchopneumonia. Echocardiography revealed the co-existence of aortic coarctation with bicuspid aortic valves, mitral supravalvular ring, and dysplastic mitral valves producing severe mitral stenosis and severe pulmonary hypertension. Although wide spectrum antibiotics were administered from the first day of hospitalization, the patient developed severe sepsis and died. The components of the Shone's complex diagnosed by echocardiography were confirmed at pathology. PMID:18621780
Popescu, Bogdan A; Jurcut, Ruxandra; Serban, Marinela; Parascan, Liliana; Ginghina, Carmen
BACKGROUND AND PURPOSE: Jugular foraminal stenosis (JFS) or atresia (JFA) with collateral emissary veins (EV) has been documented in syndromic craniosynostosis. Disruption of EV during surgery can produce massive hemorrhage. Our purpose was to describe the prevalence of prominent basal emissary foramina (EF), which transmit enlarged EV, in syn- dromic craniosynostosis. Our findings were correlated with phenotypic and molecular diagnoses.
Caroline D. Robson; John B. Mulliken; Richard L. Robertson; Mark R. Proctor; Daniela Steinberger; Patrick D. Barnes; Alicia McFarren; Ulrich Muller; David Zurakowski
The problems involved in diagnosing the multiple personality syndrome in a rape-murder suspect are illustrated by the case of Kenneth Bianchi and the Hillside Stranglings. Hypnotic investigations of his amnesia revealed “Steve,” who admitted guilt for the rape-murders. “Billy” later emerged, claiming responsibility for thefts and forgeries. Attempts to evaluate Kenneth Bianchi with methods used in therapy yielded an original
Ralph B. Allison
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.
Smit, Michael A.; Nyquist, Ann-Christine
Background Hemolytic and uremic syndrome (HUS) diagnosis involves association of non immune hemolytic anemia, thrombocytopenia, and renal failure. HUS without thrombocytopenia has been observed, we call it partial HUS. Its real frequency and outcome are unknown. The aim of this study was to determine the prevalence of patients with normal platelets count in two HUS cohorts and to compare their outcome to patients with thrombocytopenia. Methods We retrospectively identified HUS diagnosis in two different cohorts. The first cohort was from a single center and consisted of all cases of HUS whatever the aetiology, the second was multicentric and consisted of atypical HUS patients. These cohorts were divided into two groups depending on the presence or absence of thrombocytopenia. Clinical and biological data were compared between thrombopenic and non thrombopenic group. Results We identified 13% (20/150) of patients with normal platelets count: 10 episodes (18%) of HUS in six patients (14%) in the monocentric cohort and 14 patients (13%) with 17 episodes (12%) in the multicentric cohort of atypical HUS. Groups differed in platelets count and LDH level. In both cohorts, renal outcome was similar to patient presenting with thrombocytopenia. Conclusion HUS with normal platelets count is not infrequent. Relative to classical clinical presentation of HUS, partial HUS has similar characteristics and identical poor renal outcome and so must be treated in the same way.
Recently, the term of "possible" polycystic ovary syndrome (PCOS) has been used for defining cases in which biochemical evaluations are incomplete but clinical phenotypes are suggestive of PCOS. The aim of this study was, by using Rotterdam 2003 criteria, to detect possible PCOS cases and compare their characteristics and insulin sensitivity status with confirmed PCOS subjects. One-hundred-eighteen women who admitted with complaints and symptoms suggesting PCOS were included. Insulin sensitivity status of the cases was calculated with Homeostasis Model Assessment of Insulin Resistance (HOMA-IR). Cases fulfilling Rotterdam 2003 criteria were defined as confirmed PCOS, whereas indeterminate subjects as possible PCOS. Confirmed PCOS was detected in 70 (59.3%) and possible PCOS in 48 (40.7%) cases. Confirmed PCOS was most prevalent among subjects with hirsutism and menstrual dysfunction; 32 (80.0%) vs. 8 (20%), (p=0.000). Body mass index and HOMA-IR values did not differ between groups: confirmed PCOS versus possible PCOS; 25.46+/-5.55 kg/m(2) vs. 26.75+/-7.55 kg/m(2), 3.37+/-4.12 vs. 3.21+/-2.50, (p>0.05). Family history of type-2 diabetes mellifus was similar within both groups (p>0.05). Many PCOS patients seem to be undiagnosed due to inadherence to diagnostic work-up and/or to not fulfill Rotterdam 2003 criteria. These criteria may not be sufficient to cover the entire spectrum of PCOS.
Ertorer, Melek Eda; Anaforoglu, Inan; Bozkirli, Emre; Bakiner, Okan; Tutuncu, Neslihan Bascil; Demirag, Nilgun Guvener
OBJECTIVE:Our aim was to examine the predictive value of the Rome criteria and absence of so-called “red flags” of clinical practice for diagnosing irritable bowel syndrome. Red flags were relevant abnormalities on physical examination, documented weight loss, nocturnal symptoms, blood in stools, history of antibiotic use, and family history of colon cancer.METHODS:In retrospective studies, 98 patients who had one or
S. J Vanner; W. T Depew; W. G Paterson; L. R DaCosta; A. G Groll; J. B Simon; M Djurfeldt
Background A high prevalence of chronic fatigue has previously been reported following giardiasis after a large waterborne outbreak in Bergen, Norway in 2004. The aim of this study was to describe and evaluate differential diagnoses and natural course of fatigue five years after giardiasis among patients who reported chronic fatigue three years after the infection. Methods Patients who three years after Giardia infection met Chalder’s criteria for chronic fatigue (n=347) in a questionnaire study among all patients who had laboratory confirmed giardiasis during the Bergen outbreak (n=1252) were invited to participate in this study five years after the infection (n=253). Structured interviews and clinical examination were performed by specialists in psychiatry, neurology and internal medicine/infectious diseases. Fukuda et al’s 1994 criteria were used to diagnose chronic fatigue syndrome (CFS) and idiopathic chronic fatigue (ICF). Self-reported fatigue recorded with Chalder Fatigue Questionnaire three and five years after infection were compared. Results 53 patients were included. CFS was diagnosed in 41.5% (22/53) and ICF in 13.2% (7/53). Chronic fatigue caused by other aetiology was diagnosed in 24.5% (13/53); five of these patients had sleep apnoea/hypopnoea syndrome, six had depression and five anxiety disorder, and among these two had more than one diagnosis. Fatigue had resolved in 20.8% (11/53). Self-reported fatigue score in the cohort was significantly reduced at five years compared to three years (p<0.001). Conclusion The study shows that Giardia duodenalis may induce CFS persisting as long as five years after the infection. Obstructive sleep apnoea/hypopnoea syndrome, depression and anxiety were important differential diagnoses, or possibly comorbidities, to post-infectious fatigue in this study. Improvement of chronic fatigue in the period from three to five years after giardiasis was found.
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.
Sawicka, Nadia; Gryczynska, Maria; Sowinski, Jerzy; Tamborska-Zedlewska, Monika; Ruchala, Marek
Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.
Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina
Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. PMID:24754368
Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M
We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. PMID:22178801
Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar
Androgen Insensitivity Syndrome Diagnosed in an Elderly Patient during a Strangulated Inguinal Hernia Repair INTRODUCTION A strangulated inguinal hernia is a common indication for emergency surgery. In comparison, complete testicular feminization is a rare genetic disease that can present with an inguinal hernia because of ectopically positioned testicles. PRESENTATION OF CASE A 70-year-old female was admitted to the emergency service complaining of a painful swelling in the right inguinal region for 1 day. The physical examination indicated a strangulated inguinal hernia and surgery was performed. On exploring the inguinal region, a strangulated indirect inguinal hernia and hard 2 × 3-cm mass were detected. The histopathological examination of the excised mass showed testicular tissue, and complete testicular feminization (CTF) was diagnosed after further examinations. DISCUSSION Androgen insensitivity syndrome (AIS), the most frequent cause of male pseudohermaphroditism. The diagnosis of patients with AIS is usually made at the beginning of the second decade when a healthy person with a female phenotype complains of no menarche. Making a first diagnosis after the 5th decade is extremely rare. CONCLUSION While AIS can be diagnosed in early adulthood, cases might not bediagnosed until the patient is of advanced age.
Arslan, Yusuf; Altintoprak, Fatih; Ozkan, Orhan Veli; Yalk?n, Omer; Gunduz, Yasemin; Kahyaoglu, Zeynep
Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ?3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. PMID:23827401
Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav
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
Ortega, Margarita; Mallo, Mar; Solé, Francesc; Sánchez-Morata, Carmen; López-Andreoni, Laura; Martínez-Morgado, Noemí; Gironella, Mercedes; Valcárcel, David; Vallespí, Teresa
We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation. Although genetic alterations have been identified in NS, the mutations are heterogeneous and the diagnosis remains one of clinical suspicion. The combination of PIG and NS has not yet been documented in the literature. While the underlying pathophysiologic mechanism of PIG is unclear, we suggest that the mitogen-activated protein kinase signal transduction pathway members (PTPN11, KRAS, SOS1, RAF1, SHOC2, NRAS) involved in cellular growth factor signaling, which are affected in NS, can provide clues. In addition, this case demonstrates that empiric corticosteroids can be considered in complicated cases since biopsy did reveal an inflammatory component, not typically noted in PIG. PMID:24039098
Ross, Mindy K; Ellis, Linda S; Bird, Lynne M; Hagood, James S
Polycystic ovary syndrome (PCOS) and Graves' disease are the common causes of menstrual irregularity leading to infertility in women of child-bearing age. A 21-year-old female patient visited us with complaints of oligomenorrhea and hand tremor. She was diagnosed as having PCOS and hyperthyroid Graves' disease, simultaneously. She had low body weight (BMI: 16.4 kg/m(2)), mild hirsutism, and thyrotoxicosis. The patient was treated with anti-thyroid drug and beta-blocker for about two years, and then recovered to normal thyroid function. Although some studies have suggested a connection between PCOS and autoimmune thyroiditis, no study indicated that PCOS is associated with Graves' disease until now. Here, we describe the first case report of a lean woman with normal insulin sensitivity presenting PCOS and Graves' disease simultaneously. PMID:21963738
Jung, Jung Hwa; Hahm, Jong Ryeal; Jung, Tae Sik; Kim, Hee Jin; Kim, Ho Soo; Kim, Sungsu; Kim, Soo Kyoung; Lee, Sang Min; Kim, Deok Ryong; Choi, Won Jun; Seo, Yeong Mi; Chung, Soon Il
Purpose The purpose of this report is to describe 2 patients with persistent severe dry eyes, positive Schirmer tests for Sjogren's syndrome (SS) but lacking antibodies to either Ro or La. These patients were diagnosed to have SS by detecting antibodies to salivary gland protein 1 (Sp1) and parotid secretory protein (PSP). This report emphasizes the existence of patients with SS who lack antibodies to either Ro or La and may therefore be misdiagnosed. Detection of novel autoantibodies, including antibodies to Sp1 and PSP, are helpful in identifying these patients. Initial presentation may simply be dry eyes. Methods Two patients who presented to our ophthalmology clinic are described. One of the patients underwent multiple procedures over a period of 10 years for severe xerophthalmia. The other patient had rheumatoid arthritis and xerophthalmia. However, in both patients, chronic xerophthalmia had been considered to be idiopathic because antibodies Ro and La were negative. Further serologic testing revealed antibodies to Sp1 and PSP. Results Two patients who lacked antibodies to Ro and La but not to Sp1 and PSP were diagnosed as having SS. Conclusion Patients presenting with unexplained dry eyes may not always show the serology markers in the current criteria for SS, anti-Ro and anti-La. In these cases, investigation for novel, early antibodies to Sp1 and PSP is of importance in the diagnosis of SS.
Vishwanath, Sahana; Everett, Sandra; Shen, Long; Malyavantham, Kishore; Suresh, Lakshmanan; Ambrus, Julian L.
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.
Zeynep Batur Caglayan, Hale; Yildirim-Capraz, Irem
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
Nazliel, Bijen; Akyol, Asli; Zeynep Batur Caglayan, Hale; Yildirim-Capraz, Irem; Irkec, Ceyla
A right adrenal tumor was incidentally discovered on abdominal computed tomography performed on a 53-year-old Japanese man, who had been hospitalized with diabetic ketoacidosis. Normal values were obtained for adrenal hormones in the morning after an overnight fast and urinary cortisol excretion after treatment of diabetic ketoacidosis with insulin. However, overnight dexamethasone administration with 1 mg or 8 mg did not completely suppress serum cortisol levels. There were no remarkable physical findings related to Cushing's syndrome. The patient was diagnosed as having preclinical Cushing's syndrome (PCS). Histological examination of the adrenalectomy specimen demonstrated adrenal black adenoma. Blood glucose levels subsequently improved after adrenalectomy, and the patient never developed adrenal insufficiency after hydrocortisone withdrawal. The patient was treated with diet therapy alone, and maintained good glycemic control. However, the patient still showed a diabetic pattern in an oral glucose tolerance test. It seems that the existence of PCS in addition to the underlying type 2 diabetes mellitus contributed to aggravation of blood glucose levels. Although there are many aspects of the natural course of PCS that have not been thoroughly elucidated, it is necessary to remain aware that a PCS patient with abnormal glucose metabolism may develop diabetic ketoacidosis by environmental agents. PMID:17575368
Kahara, Toshio; Seto, Chikashi; Uchiyama, Akio; Usuda, Daisuke; Akahori, Hiroshi; Tajika, Eiji; Miwa, Atsuo; Usuda, Rika; Suzuki, Takashi; Sasano, Hironobu
Unilateral absence of a pulmonary artery a very rare congenital disorder. We here present a case of a 22-year-old female patient with agenesis of the right pulmonary artery accompanying patent ductus arteriosus and Eisenmenger syndrome, diagnosed by chest X-ray and multidetector computed tomography 5 days after giving birth. PMID:24856223
Beker-Acay, Mehtap; Ozkececi, Gulay; Unlu, Ebru; Hocaoglu, Elif; Kacar, Emre; Onrat, Ersel
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…
Woodbury-Smith, Marc; Klin, Ami; Volkmar, Fred
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.
Clark, Kevin B.
Background The worldwide epidemic of diabetes and obesity has resulted in a rapid upsurge in the prevalence of metabolic syndrome (MetS). MetS makes the individual liable to endothelial dysfunction which can initiate sexual dysfunction (SD). This study assessed the association between MetS and SD among clinically diagnosed diabetic subjects in Tema, Greater Accra Region of Ghana. Method Sexual functioning was assessed using Golombok Rust Inventory of Sexual Satisfaction in 300 consecutive diabetic men visiting the diabetic clinic of Tema General Hospital between November, 2010 and March, 2011. Anthropometric data including waist and hip circumference as well as blood pressure were measured. The levels of fasting blood glucose and serum lipid profile were assessed. All the men had a steady heterosexual relationship for at least 2 years before enrolment in the study. Results The response rate was 91.3% out of the 300 subjects recruited for the study. Those with SD were significantly older and had diabetes for a longer period as compared to those without SD. The prevalence of MetS as defined by the various criteria was 78.8%, 43.4% and 51.8% for WHO, NCEP ATP III and IDF respectively. Central obesity (p?=?0.0482) and raised blood pressure (p?=?0.0309) are the significant MetS components when the studied population was stratified according to sexual functioning. Generally, SD as well as its sub-scales correlate positively with age, blood pressure, duration of diabetes and MetS score. Whereas TC and LDL-c correlated positively with non-communication, TG correlates positively with avoidance and infrequency. Conclusion SD and its sub-scales have a direct relationship with duration of diabetes, blood pressure and MetS score from this study. Central obesity and raised blood pressure seem to be the link between MetS and SD among this clinically diagnosed diabetic subjects.
Myelodysplastic syndrome (MDS) is particularly common in geriatric practice. As few data are available in very elderly patients, we conducted a 54-month retrospective study in patients over 70 years with MDS diagnosed at Hôpital Charles Foix. Patients with cobalamine, folate or iron deficiency were excluded. Regarding biological and morphologic approaches, MDS patients were classified according to the FAB criteria. We then tempted to reclassify the patients according to the WHO criteria. The Bournemouth scoring system was used as a prognostic tool. During the study period, 100 patients were included, 29 males and 71 females, median age 86 +/- 7 years (70-103). At the time of bone marrow sampling, a peripheral blood cytopenia was documented in 64 patients, a bicytopenia in 27 patients and a pancytopenia in 9 patients. Isolated anaemia (Hb < 12 g/dL) was found in 60 patients and isolated thrombocytopenia (< 150 x 10(9)/L) in 4. Macrocytosis (MCV > 100 fL) was observed in 21 % of the cases. According to the FAB criteria, the 100 patients were classified as follows: refractory anaemia (RA): 79%; RA with ringed sideroblasts (RARS): 8%; RA with excess of blasts (RAEB): 8%; RAEB in transformation: 1%; chronic myelomonocytic leukaemia: 4%. According to the WHO classification, the patients were reclassified as follows: RA (unilineage) (with or without ringed sideroblasts): 10%; refractory cytopenia with multilineage dysplasia with or without ringed sideroblasts (RCMD): 73%; RAEB: 7% (RAEB-1 6%, RAEB-21%); MDS/Myeloproliferative disorder: 4%; unclassified (hypocellularity): 5%; acute leukaemia: 1%. In order to estimate prognosis at the time of the bone marrow aspirate, we calculated the Bournemouth'score: 8 patients scored 0,57 scored 1,25 scored 2,8 scored 3 and 2 scored 4. In this geriatric population, 83% cases of MDS are RA or RCMD (with or without sideroblasts); MDS with excess of blasts are uncommon. Thus, elderly patients under study with MDS were diagnosed at an earlier stage of the disease than younger ones from series published in the literature. Due to frequent comorbidities, geriatric patients may be symptomatic for a slight decrease of haemoglobin level. Therefore, elderly patients are investigated as soon as they present with moderate anaemia that may explain the early MDS diagnosis. PMID:15047472
Dewulf, G; Gouin, I; Pautas, E; Gaussem, P; Chaïbi, P; Andreux, J-P; Siguret, V
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and ?-dystroglycanopathies). Secondary (disruptive) conditions include prenatal infections (e.g., cytomegalovirus), exposure to teratogens, and extreme prematurity. The distinction between malformations and disruptions is important for pathogenesis and genetic counseling. Neuroimaging provides key information to categorize CH based on the pattern of involvement: unilateral CH, CH with mainly vermis involvement, global CH with involvement of both vermis and hemispheres, and pontocerebellar hypoplasia. The category of CH, associated neuroimaging findings and clinical features may suggest a specific disorder or help plan further investigations and interpret their results. Over the past decade, advances in neuroimaging and genetic testing have greatly improved clinical diagnosis, diagnostic testing, recurrence risk counseling, and information about prognosis for patients and their families. In the next decade, these advances will be translated into deeper understanding of these disorders and more specific treatments. © 2014 Wiley Periodicals, Inc. PMID:24839100
Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan
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.
Rossbach, H.C.; Granan, N.H.; Rossi, A.R.; Barbosa, J.L. [Univ. of South Florida, St. Petersburg, FL (United States)] [and others] [Univ. of South Florida, St. Petersburg, FL (United States); and others
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.
Lacerda, Leticia da Silva; Alves, Ursula David; Zanier, Jose Fernando Cardona; Machado, Dequitier Carvalho; Camilo, Gustavo Bittencourt; Lopes, Agnaldo Jose
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.
Orth, Matthias; Bellosta, Stefano
Recent studies suggest that 7-dehydrocholesterol (7-DHC)-derived oxysterols play important roles in the pathophysiology of Smith-Lemli-Opitz syndrome (SLOS), a metabolic disorder that is caused by defective 3?-hydroxysterol-?7-reductase (DHCR7). Although 14 oxysterols have been identified as the primary products of 7-DHC autoxidation in organic solution, the metabolic fate of these oxysterols in a biological environment has not yet been elucidated. Therefore, we incubated these primary 7-DHC oxysterols in control Neuro2a and control human fibroblast cells and identified metabolites of these oxysterols by HPLC-MS. We also incubated Dhcr7-deficient Neuro2a cells and fibroblasts from SLOS patients with isotopically labeled 7-DHC (d7-7-DHC). The observation of matching d0- and d7 peaks in HPLC-MS confirmed the presence of true metabolites of 7-DHC after excluding the possibility of ex vivo oxidation. The metabolites of primary 7-DHC oxysterols were found to contribute to the majority of the metabolic profile of 7-DHC in cells. Furthermore, based on this new data, we identified three new 7-DHC-derived metabolites in the brain of Dhcr7-KO mice. Our studies suggest that 7-DHC peroxidation is a major source of oxysterols observed in cells and in vivo and that the stable metabolites of primary 7-DHC oxysterols can be used as markers of 7-DHC peroxidation in these biological systems.
Xu, Libin; Korade, Zeljka; Rosado, Dale A.; Mirnics, Karoly; Porter, Ned A.
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
Hardeman, M R; Ince, C
Background. Our aim was to investigate the association between migraine, tension type headache, and metabolic syndrome. Methods. Presence of tension type headache and migraine was investigated in 120 patients diagnosed as metabolic syndrome. The severity of the headache was recorded according to the visual analog scale. Results. Mean age of the patients was 54.41 ± 11.60 years (range, 29–84?yrs). Diagnoses of tension type headache and migraine without aura were made for 39 (32.5%) and 18 (15%) patients, respectively. Mean age of migraine patients was significantly lower relative to the patients with tension type headache and no headache. Incidence of hypertriglyceridemia was significantly higher in migraine patients when compared with cases tension type headache and without headache. In the tension type headache group, requirement for analgesics decreased as HDL cholesterol levels increased, while need for analgesic drugs increased in line with higher diastolic blood pressures. In the migraine group duration of headache was found to be prolonged with decreasing HDL cholesterol levels. Conclusion. In patients presenting with headache, its association with metabolic syndrome should be considered, and the patients should be especially observed with respect to response to analgesic and the presence of hypertension and hyperlipidemia.
Unal, Muge; Engin, Hayriye; Gurbuzer, Nurbanu
Antiphospholipid syndrome is one type of immunological diseases which may be primary or secondary characterized by repeated thrombosis that it may be called “sticky blood syndrome”. Although a well-known disease in gynecology, there is no sufficient data in pediatrics field; so we see that it is important to discuss this interesting case.
Youssef, Doaa Mohammed; Tawfeek, Doaa Mostafa
We undertook a study to determine the value of gallium imaging of the kidneys in patients who had primary amyloidosis that was manifest clinically by nephrotic syndrome. We studied 28 patients with gallium-67 (67Ga) citrate scans performed 48 hr after injection. Intense (3+ to 4+) uptake was noted in both kidneys in 25 of 28 patients. Renal amyloidosis should be considered in the differential diagnosis when diffuse bilateral renal uptake of (67Ga)citrate is seen in the setting of nephrotic syndrome. Gallium uptake did not differentiate amyloid nephrotic syndrome from other causes of nephrotic syndrome. Renal gallium uptake showed a weak correlation with 24-hr urine protein excretion (p = 0.06).
Gertz, M.A.; Brown, M.L.; Hauser, M.F.; Kyle, R.A. (Mayo Clinic, Rochester, MN (USA))
SYNOPSIS Cytokine Storm Syndromes (CSS) are a group of disorders representing a variety of inflammatory etiologies with the final common result of overwhelming systemic inflammation, hemodynamic instability, multiple organ dysfunction, and potentially death. The hemophagocytic syndromes hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) represent two clinically similar CSS with an unknown degree of pathoetiologic overlap. The clinical presentations of all CSS can be strikingly similar, creating diagnostic uncertainty. However, clinicians should avoid the temptation to treat all CSS equally, as their inciting inflammatory insults vary widely. Failure to identify and address this underlying trigger will result in delayed, inoptimal, or potentially harmful consequences. This review endeavors to place the hemophagocytic syndromes HLH and MAS within a conceptual model of CSS, and thus provide a logical framework for diagnosis and treatment of CSS of suspected rheumatic origin.
Canna, Scott W.
... In Depth In the Spotlight If I Had... Universities and Hospitals By Disease or Symptom View QuickTime ... the Urban Community Cardiology program, at New York University's Langone Center. What is long QT syndrome Dr. ...
National Institutes of Health category III prostatitis, also known as chronic prostatitis\\/chronic pelvic pain syndrome, is\\u000a a common condition with significant impact on quality of life. This clinically defined syndrome has a multifactorial etiology\\u000a and seems to respond best to multimodal therapy. At least half of these patients have pelvic floor spasm. There are several\\u000a approaches to therapy including biofeedback,
Karin E. Westesson; Daniel A. Shoskes
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
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. Key Words: vulnerable system syndrome; risk management; patient safety; learning
Reason, J; Carthey, J; de Leval, M R
During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary
Nonophthalmologists did not attempt to (36%) or were “unable to” (19%) examine the fundus in 72 children with shaken baby syndrome. When the retina was examined, nonophthalmologists were accurate in recognizing the absence or presence of retinal hemorrhage in 87%. However, false-negative examinations occurred in 13%. Ophthalmology consultation should be an integral part of the evaluation of children with suspected
Yair Morad; Yuri M. Kim; Marcellina Mian; Dirk Huyer; Louise Capra; Alex V. Levin
Pressure studies were performed in 55 patients (24 with chronic anterior leg pain and 31 asymptomatic recreational athletes). Pressure measurements were recorded at rest, during, and after exercise, using the slit catheter system. Seventeen of the twenty-four pa tients with symptomatic anterior leg pain were diag nosed on the basis of tissue pressure studies as having chronic exertional compartment syndrome.
C. H. Rorabeck; R. B. Bourne; P. J. Fowler; J. B. Finlay; Linda Nott
Photosensitive disorders may be classified as those entirely caused by solar exposure and the photoaggravated disorders. Those in the former category include polymorphic light eruption, juvenile spring eruption, actinic prurigo, hydroa vacciniforme, solar urticaria, also chronic actinic dermatitis. Genodermatoses whose expression mainly depends on UV or light exposure include the DNA repair deficient disorders, some disorders of cornification, the Smith–Lemli–Opitz
Gillian M. Murphy
The symptoms of Lyme borreliosis are similar to those of a variety of autoimmune musculoskeletal diseases. Persistence of\\u000a complaints is frequently interpreted as unsuccessful antibiotic treatment of Borrelia-associated infections. However, such refractory cases are rare, and re-evaluation of differential diagnoses helps to avoid\\u000a the substantial risk of long-term antibiotic therapy. In this study, we analyzed patients who presented to our
M. F. Seidel; A. Belda Domene; H. Vetter
The diagnosis of median arcuate ligament (MAL) syndrome and its correlation with symptoms has been controversial since the disease entity was described. The authors describe a technique that will identify patients who will benefit from intervention. Eight patients with isolated celiac artery compression from MAL were identified by the authors. Their technique involved selective cannulation of the superior mesenteric artery (SMA) and injection of a vasodilator during angiography. Symptom reproduction and loss of collateral filling of the celiac territory represented a positive test: 4 of the 8 patients had a positive test and underwent successful surgical treatment of the condition; 3 of them remained asymptomatic at follow-up; 1 patient continues to have mild abdominal discomfort. Of the 4 patients with a negative test, 2 were found to have other conditions causing their symptoms. Vasodilator injection into the SMA is a useful diagnostic test to identify patients with symptomatic MAL syndrome. PMID:18799501
Kalapatapu, Venkat R; Murray, Bryce W; Palm-Cruz, Katherine; Ali, Ahsan T; Moursi, Mohammed M; Eidt, John F
To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means\\u000a of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat\\u000a and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody
Rob Willemsen; Arie Smits; Serieta Mohkamsing; Hetty van Beerendonk; Anton de Haan; Bert de Vries; Ans van den Ouweland; Erik Sistermans; Hans Galjaard; Ben A. Oostra
The first case of acquired immunodeficiency syndrome (AIDS) in Norway, diagnosed in January 1983, is presented, with results of clinical, immunological, and microbiological studies and the results of autopsy. Immunological studies showed several immunological abnormalities, including a profound deficiency of the T-cell system of the type usually associated with AIDS. During the 11 months of symptomatic disease the patient had a series of opportunistic infections, including recurrent candida esophagitis, probable Pneumocystis carinii pneumonia, and severe and recurrent perioral Herpes simplex virus infection. During the last months he had increasing signs and symptoms of disseminated cytomegalovirus infection, which was probably the major cause of death, as revealed by autopsy. Autopsy also showed the presence of disseminated infection with a slowly growing, so far unclassified Mycobacterium species, and signs of a focal aspergillus pneumonia. PMID:3856941
Frøland, S S; Oppedal, B; Digranes, S; Egge, K; Skar, A G; Hasvoll, A; Onsrud, M; Steinbakk, M
This article describes selected ethical issues faced by members of a family with genetic predisposition to the cancer syndrome multiple endocrine neoplasia type 2a. The bioethical principles of autonomy, nonmaleficence, beneficence, and justice are the moral guides for nurses and other health professionals, who may apply them to help patients, family members and peers resolve ethical issues and moral dilemmas. Sometimes, however, issues that are morally problematic cannot be settled by simply referring to standards of practice and bioethical norms. In these cases all stakeholders must struggle together to resolve the conflict. PMID:11575045
We are reporting an irreversible Horner Syndrome (HS) in a patient with benign thyroid gland nodule in which thyroidectomy was performed for treatment. A 37-year-old female was admitted to our clinic with a swelling in the left lobe of the thyroid gland and ptosis at the left eyelid. The clinical diagnosis of HS was confirmed pharmacologically by aproclonidine. Histopathologic examination of thyroidectomy specimen was reported as benign nodule. To the best of our knowledge, this is a very rare report in terms of thyroid benign nodule associated with irreversible HS due to cervical sympathetic chain compression. PMID:24353546
M, Coskun; A, Aydogan; C, Gokce; O, Ilhan; Ov, Ozkan; H, Gokce; H, Oksuz
We are reporting an irreversible Horner Syndrome (HS) in a patient with benign thyroid gland nodule in which thyroidectomy was performed for treatment. A 37-year-old female was admitted to our clinic with a swelling in the left lobe of the thyroid gland and ptosis at the left eyelid. The clinical diagnosis of HS was confirmed pharmacologically by aproclonidine. Histopathologic examination of thyroidectomy specimen was reported as benign nodule. To the best of our knowledge, this is a very rare report in terms of thyroid benign nodule associated with irreversible HS due to cervical sympathetic chain compression.
M, Coskun; A, Aydogan; C, Gokce; O, Ilhan; OV, Ozkan; H, Gokce; H, Oksuz
A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of a mutation in the TGFBR1 gene in the patient and his son confirmed the diagnosis. This article highlights the high prevalence of inherited conditions in dilated aortic root presentations and the importance of family screening and surveillance to allow early surgical intervention. PMID:24495977
Martin, Claire A; Clowes, Virginia E; Cooper, John P
Myelodysplastic syndromes are a heterogeneous group of clonal bone marrow disorders characterized by dysplasia, progressive bone marrow failure, and increased risk of transformation to acute myeloid leukemia. Although diagnostic criteria are well established, a diagnosis based on morphologic and cytogenetic findings is often difficult in a significant number of patients. Multiparametric flow cytometric immunophenotyping is a highly sensitive and specific method for quantitative and qualitative evaluation of hematopoietic cells. Flow cytometry is used to identify dysregulated antigen expression of myeloid cells, estimate the proportion of bone marrow blasts cells, and reveal their abnormal immunophenotype. Recent data suggest that flow cytometry adds important prognostic information to the widely accepted International Prognostic Scoring System. PMID:18688206
Czyz, Anna; Dworacki, Grzegorz; Komarnicki, Mieczys?aw
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.
Papavramidis, Theodossis S; Marinis, Athanasios D; Pliakos, Ioannis; Kesisoglou, Isaak; Papavramidou, Nicki
A distinct syndrome was ascertained in a 3-year-old girl and her brother. The proband was the first child of first cousin parents. She was born after an uneventful pregnancy. At birth, multiple congenital anomalies were noted: ptosis of the left eyelid, hypertelorism, anteverted nares, large fontanel, long philtrum, ungueal hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. During another pregnancy of the mother, fetal ultrasonographic examination showed an hypertrophy of the right ventricle and atria, a dextroposition of the aorta, a bilateral renal pelvis dilatation, and a club foot. After termination of the pregnancy, necropsy showed facial anomalies, a small penis, a polysyndactyly, a ventricular septum defect, and a malformation of the ductal plate. Bonneau et al. [1983: J Genet Hum 2:93-105] described a family in which three sibs had a complex cardiac malformation, hexadactyly of the first toe, and syndactyly of the third and fourth fingers. Rajab [1997: Clin Dysmorphol 6:85-88] described two sibs with similar features in an Omani family. The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis. PMID:12749069
Stoll, Claude; Gasser, B
Bronchiolitis obliterans syndrome (BOS), a condition of irreversible small airway fibrosis, is the principal factor limiting long-term survival after lung transplantation. Bronchoscopy and bronchoalveolar lavage (BAL), techniques central to lung transplant clinical practice, provide a unique opportunity to interrogate the lung allograft during BOS development and identify potential disease mechanisms or biomarkers. Over the past twenty years, numerous studies have evaluated the BAL cellular composition, cytokine profiles, and protein constituents in lung transplant recipients with BOS. To date, however, no summative evaluation of this literature has been reported. We developed and applied objective criteria to qualitatively rank the strength of associations between BAL parameters and BOS in order to provide a comprehensive and systematic assessment of the literature. Our analysis indicates that several BAL parameters, including neutrophil count, interleukin-8, alpha defensins, and MMP-9, demonstrate highly replicable associations with BOS. Additionally, we suggest that considerable opportunity exists to increase the knowledge gained from BAL analyses in BOS through increased sample sizes, covariant adjustment, and standardization of BAL technique. Further efforts to leverage analysis of BAL constituents in BOS may offer great potential to provide additional in-depth and mechanistic insights into the pathogenesis of this complex disease.
Kennedy, Vanessa E.; Todd, Jamie L.; Palmer, Scott M.
Steroid-resistant nephrotic syndrome (NS) remains one of the most intractable causes of end-stage renal disease in the first two decades of life. Several genes have been involved including NPHS1, NPHS2, WT1, PLCE1, and LAMB2. Our aim was to identify causative mutations in these genes, in 24 children belonging to 13 families with NS manifesting with various ages of onset. We performed haplotype analysis and direct exon sequencing of NPHS1, NPHS2, PLCE1, LAMB2, and the relevant exons 8 and 9 of WT1. Ten different pathogenic mutations were detected in seven families concerning four genes (NPHS1 (3/7), LAMB2 (2/7), NPHS2 (1/7), and WT1 (1/7)). Five of the detected mutations were novel; IVS9+2 T>C and p.D616G in NPHS1; p.E371fsX16 in NPHS2, and p.E705X and p.D1151fsX23 in LAMB2. Nine of 24 patients failed to be categorized by mutational analysis. Our study extends the spectrum of abnormalities underlying NS, by reporting novel mutations in the NPHS1 and NPHS2 genes and the first cases of LAMB2 mutations in Tunisia. Congenital and infantile NS can be explained by mutations in NPHS1, NPHS2, WT1, or LAMB2 genes. The identification of additional genes mutated in NS can be anticipated. PMID:21125408
Mbarek, Ibtihel Benhaj; Abroug, Saoussen; Omezzine, Asma; Pawtowski, Audrey; Gubler, Marie Claire; Bouslama, Ali; Harbi, Abdelaziz; Antignac, Corinne
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes can be distinguished by intermediate metabolite levels, and a definitive diagnosis relies on the presence of deleterious mutations in the causative genes. Mutations and unclassified variants were identified in 41 unrelated patients, and 22 of these mutations were novel. Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay. Furthermore, the urine creatine:creatinine ratio is an effective screening test with 100% specificity in males suspected of having creatine transporter deficiency. This test has a high false-positive rate due to dietary factors or dilute urine samples and lacks sensitivity in females. We conclude that biochemical screening for plasma GAA and measuring of the urine creatine:creatinine ratio should be performed for suspected CCDS patients prior to sequencing. Also, based on the results of this study, we feel that sequencing should only be considered if a patient has abnormal biochemical results on repeat testing. PMID:23660394
Comeaux, Matthew S; Wang, Jing; Wang, Guoli; Kleppe, Soledad; Zhang, Victor Wei; Schmitt, Eric S; Craigen, William J; Renaud, Deborah; Sun, Qin; Wong, Lee-Jun
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder characterized by the triad of congenital ichthyosis, mental deficiency, and spastic diplegia or tetraplegia. Less common features are retinal changes, short stature, kyphoscoliosis, preterm birth, photophobia, reduction of visual acuity, seizures, and delayed speech. SLS is characterized by a genetic block in the oxidation of fatty alcohol to fatty acid because of deficient activity of fatty aldehyde dehydrogenase (FALDH), a component of the fatty alcohol: NAD oxidoreductase enzyme complex. As in other rare multisystem diseases, the diagnosis of SLS is often delayed. The definitive test for SLS is considered the measurement of FALDH or fatty alcohol: NAD oxidoreductase in cultured skin fibroblasts. Nevertheless, if specific FALDH activity test or DNA FALDH gene mutation tests are not available (as in our country), a reliable diagnosis of SLS is also possible when it is based on the matching of peculiar clinical, histologic and ultrastructural, laboratoristic, and imaging features. The simultaneous presence of cutaneous histologic features including hyperkeratosis, orthokeratosis, thickening of granular layer, abnormal lamellar inclusions in the cytoplasm of granular and horny cells (demonstrated by light and electron microscopy) in a child with ichthyosis, and typical neurologic abnormalities is highly suggestive of SLS. We describe the case of a young Moroccan boy presenting with ichthyosis, mental retardation, spastic diplegia, and peculiar skin histologic findings. PMID:17302612
Bernardini, M L; Cangiotti, A M; Zamponi, N; Porfiri, L; Cinti, S; Offidani, A
We report on 2 cases associating retinal (RH) and cerebral hemorrhages (CH), which first suggested the diagnosis of shaken baby syndrome (SBS). After an etiologic search, the diagnosis was corrected: the first case was a late hemorrhagic disease of the newborn and the second case hemophilia A. RH is a major feature of SBS, although not pathognomonic. There is no specific RH of SBS but they usually affect the posterior retinal pole. Typically, RHs of SBS are present in both eyes, although unilateral RHs do not exclude the diagnosis of SBS. The relationship between RH and CH has been reported in SBS but also in other diseases. Thus, one must search for hemostasis abnormalities, even though the clinical presentation suggests SBS. Ignoring SBS as well as coming to the conclusion of SBS too quickly should be avoided. Diagnostic difficulties may be related to the number of physicians involved and their interpretation of the facts. These 2 cases underline the need for working as a team that includes hematologists able to interpret coagulation parameters. PMID:22115729
Botte, A; Mars, A; Wibaut, B; De Foort-Dhellemmes, S; Vinchon, M; Leclerc, F
Postural tachycardia syndrome (POTS) is characterized by increased heart rate (?HR) of ?30 bpm with symptoms related to upright posture. Active stand (STAND) and passive head-up tilt (TILT) produce different physiological responses. We hypothesized these different responses would affect the ability of individuals to achieve the POTS HR increase criterion. Patients with POTS (n=15) and healthy controls (n=15) underwent 30 min of TILT and STAND testing. ?HR values were analyzed at 5 min intervals. Receiver Operating Characteristics analysis was performed to determine optimal cut point values of ?HR for both TILT and STAND. TILT produced larger ?HR than STAND for all 5 min intervals from 5 min (38±3 bpm vs. 33±3 bpm; P=0.03) to 30 min (51±3 bpm vs. 38±3 bpm; P<0.001). Sensitivity (Sn) of the 30 bpm criterion was similar for all tests (TILT-10=93%, STAND-10=87%, TILT30=100%, and STAND30=93%). Specificity (Sp) of the 30 bpm criterion was less at both 10 and 30 min for TILT (TILT10=40%, TILT30=20%) than STAND (STAND10=67%, STAND30=53%). The optimal ?HR to discriminate POTS at 10 min were 38 bpm (TILT) and 29 bpm (STAND), and at 30 min were 47 bpm (TILT) and 34 bpm (STAND). Orthostatic tachycardia was greater for TILT (with lower specificity for POTS diagnosis) than STAND at 10 and 30 min. The 30 bpm ?HR criterion is not suitable for 30 min TILT. Diagnosis of POTS should consider orthostatic intolerance criteria and not be based solely on orthostatic tachycardia regardless of test used.
Plash, Walker B; Diedrich, Andre; Biaggioni, Italo; Garland, Emily M; Paranjape, Sachin Y; Black, Bonnie K; Dupont, William D; Raj, Satish R
POTS (postural tachycardia syndrome) is characterized by an increased heart rate (?HR) of ?30 bpm (beats/min) with symptoms related to upright posture. Active stand (STAND) and passive head-up tilt (TILT) produce different physiological responses. We hypothesized these different responses would affect the ability of individuals to achieve the POTS HR increase criterion. Patients with POTS (n=15) and healthy controls (n=15) underwent 30 min of tilt and stand testing. ?HR values were analysed at 5 min intervals. ROC (receiver operating characteristic) analysis was performed to determine optimal cut point values of ?HR for both tilt and stand. Tilt produced larger ?HR than stand for all 5 min intervals from 5 min (38±3 bpm compared with 33±3 bpm; P=0.03) to 30 min (51±3 bpm compared with 38±3 bpm; P<0.001). Sn (sensitivity) of the 30 bpm criterion was similar for all tests (TILT10=93%, STAND10=87%, TILT30=100%, and STAND30=93%). Sp (specificity) of the 30 bpm criterion was less at both 10 and 30 min for tilt (TILT10=40%, TILT30=20%) than stand (STAND10=67%, STAND30=53%). The optimal ?HR to discriminate POTS at 10 min were 38 bpm (TILT) and 29 bpm (STAND), and at 30 min were 47 bpm (TILT) and 34 bpm (STAND). Orthostatic tachycardia was greater for tilt (with lower Sp for POTS diagnosis) than stand at 10 and 30 min. The 30 bpm ?HR criterion is not suitable for 30 min tilt. Diagnosis of POTS should consider orthostatic intolerance criteria and not be based solely on orthostatic tachycardia regardless of test used. PMID:22931296
Plash, Walker B; Diedrich, André; Biaggioni, Italo; Garland, Emily M; Paranjape, Sachin Y; Black, Bonnie K; Dupont, William D; Raj, Satish R
The 22q11.2 deletion syndrome is caused by a microdeletion of chromosome 22. One third of all patients with 22q11.2 deletion develop schizophrenia-like symptoms. In general, the prevalence of 22q11.2 deletion in patients with schizophrenia is 1%–2%. The 22q11.2 deletion is one of the major known genetic risk factors for schizophrenia. However, clinical differences in the phenotypes between patients with schizophrenia who are 22q11.2 deletion carriers and those who are not are still unknown. Therefore, it may be difficult to diagnose 22q11.2 deletion in patients with schizophrenia on the basis of clinical symptoms. To date, only two Japanese patients with the deletion have been identified through microdeletion studies of patients with schizophrenia in the Japanese population. Herein, we report the case study of a 48-year-old Japanese woman with 22q11.2 deletion who had a 30-year history of schizophrenia. Based on craniofacial anomalies, unpredictable agitation, hypocalcemia, and brain imaging finding, we suspected the 22q11.2 deletion in clinical populations and diagnosed the deletion using fluorescence in situ hybridization analysis. To find common phenotypes in Japanese patients with the deletion who have schizophrenia-like symptoms, we compared phenotypes among three Japanese cases. The common phenotypes were an absence of congenital cardiovascular anomalies and the presence of current findings of low intellectual ability, agitation, and hypocalcemia. We propose that hypocalcemia and agitation in patients with schizophrenia may derive from the 22q11.2 deletion, particularly when these phenotypes are coupled with schizophrenia-like symptoms.
The Oklahoma Thrombotic Thrombocytopenic Purpura-Hemolytic Uremic Syndrome (TTP-HUS) Registry enrolls all consecutive patients for whom plasma exchange treatment is requested for clinically diagnosed TTP-HUS within a defined geographic region. During 14.5 years, from January 1, 1989 until June 30, 2003, 301 patients have been enrolled; follow-up is complete on 300 patients. Clinical categories have been designated based on associated conditions
James N George; Sara K Vesely; Deirdra R Terrell
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.
Objective. To evaluate the diagnostic usefulness of provocative tests, Doppler ultrasonography, electrophysiological investigations, and helical computed tomography (CT) angiography in thoracic outlet syndrome (TOS). Patients and methods. We prospectively evaluated 48 patients with a clinical suspicion of thoracic outlet syndrome. Standardized provocative tests, an electromyogram and somatosensory evoked responses, a Doppler ultrasonogram, and a helical CT arterial and\\/or venous angiogram
Jérôme Gillard; Maryse Pérez-Cousin; Éric Hachulla; Jacques Remy; Jean-François Hurtevent; Ludmila Vinckier; André Thévenon; Bernard Duquesnoy
All trans-retinoic acid (ATRA) syndrome is a life-threatening complication of uncertain pathogenesis that can occur during the treatment of acute promyelocytic leukemia (APL) by ATRA. Since its initial description, however, no large series of ATRA syndrome has been reported in detail. We analyzed cases of ATRA syndrome observed in an ongoing European trial of treatment of newly diagnosed APL. In this trial, patients 65 years of age or less with an initial white blood cell count (WBC) less than 5,000/microL were initially randomized between ATRA followed by chemotherapy (CT) (ATRA-->CT group) or ATRA with CT started on day 3; patients with WBC greater than 5,000/microL received ATRA and CT from day 1; patients aged 66 to 75 received ATRA-->CT. In patients with initial WBC less than 5, 000/microL and allocated to ATRA-->CT, CT was rapidly added if WBC was greater than 6,000, 10,000, 15,000/microL by days 5, 10, and 15 of ATRA treatment. A total of 64 (15%) of the 413 patients included in this trial experienced ATRA syndrome during induction treatment. Clinical signs developed after a median of 7 days (range, 0 to 35 days). In two of them, they were in fact present before the onset of ATRA. In 11 patients, they occurred upon recovery from the phase of aplasia due to the addition of CT. Respiratory distress (89% of the patients), fever (81%), pulmonary infiltrates (81%), weight gain (50%), pleural effusion (47%), renal failure (39%), pericardial effusion (19%), cardiac failure (17%), and hypotension (12%) were the main clinical signs, and 63 of the 64 patients had at least three of them. Thirteen patients required mechanical ventilation and two dialysis. A total of 60 patients received CT in addition to ATRA as per protocol or based on increasing WBC; 58 also received high dose dexamethasone (DXM); ATRA was stopped when clinical signs developed in 30 patients. A total of 55 patients (86%) who experienced ATRA syndrome achieved complete remission (CR), as compared with 94% of patients who had no ATRA syndrome (P = .07) and nine (14%) died of ATRA syndrome (5 cases), sepsis (2 cases), leukemic resistance (1 patient), and central nervous system (CNS) bleeding (1 patient). None of the patients who achieved CR and received ATRA for maintenance had ATRA syndrome recurrence. No significant predictive factors of ATRA syndrome, including pretreatment WBC, could be found. Kaplan Meier estimates of relapse, event-free survival (EFS), and survival at 2 years were 32% +/- 10%, 63% +/- 8%, and 68% +/- 7% in patients who had ATRA syndrome as compared with 15% +/- 3%, 77% +/- 2%, and 80% +/- 2% in patients who had no ATRA syndrome (P = .05, P = .003, and P = .03), respectively. In a stepwise Cox model that also included pretreatment prognostic variables, ATRA syndrome remained predictive for EFS and survival. In conclusion, in this multicenter trial where CT was rapidly added to ATRA in case of high or increasing WBC counts and DXM generally also used at the earliest clinical sign, the incidence of ATRA syndrome was 15%, but ATRA syndrome was responsible for death in only 1.2% of the total number of patients treated. However, occurrence of ATRA syndrome was associated with lower EFS and survival. PMID:9763554
De Botton, S; Dombret, H; Sanz, M; Miguel, J S; Caillot, D; Zittoun, R; Gardembas, M; Stamatoulas, A; Condé, E; Guerci, A; Gardin, C; Geiser, K; Makhoul, D C; Reman, O; de la Serna, J; Lefrere, F; Chomienne, C; Chastang, C; Degos, L; Fenaux, P
Barth syndrome (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ). Although early diagnosis is critical to prevent the progression of heart failure, this disease remains unrecognized when heart failure is not clinically significant. Here we report on a 13-year-old boy with no family history of BTHS who was diagnosed with the syndrome in the subclinical stage of heart failure. The clues to the diagnosis of BTHS in this patient were the findings of lipid storage myopathy in the skeletal muscle biopsy, elevated plasma brain natriuretic peptide, and the diagnosis of isolated noncompaction of the ventricular myocardium in echocardiography. Genetic studies of TAZ revealed a disease-causing mutation (p.Gly216Arg) in this patient. Physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered. PMID:21932011
Takeda, Atsuhito; Sudo, Akira; Yamada, Masafumi; Yamazawa, Hirokuni; Izumi, Gaku; Nishino, Ichizo; Ariga, Tadashi
Cholesterol is esterified in mammals by two enzymes: LCAT (lecithin cholesterol acyltransferase) in plasma and ACAT(1) and ACAT(2) (acyl-CoA cholesterol acyltransferases) in the tissues. We hypothesized that the sterol structure may have significant effects on the outcome of esterification by these enzymes. To test this hypothesis, we analyzed sterol esters in plasma and tissues in patients having non-cholesterol sterols (sitosterolemia and Smith-Lemli-Opitz syndrome). The esterification of a given sterol was defined as the sterol ester percentage of total sterols. The esterification of cholesterol in plasma by LCAT was 67% and in tissues by ACAT was 64%. Esterification of nine sterols (cholesterol, cholestanol, campesterol, stigmasterol, sitosterol, campestanol, sitostanol, 7-dehydrocholesterol and 8-dehydrocholesterol) was examined. The relative esterification (cholesterol being 1.0) of these sterols by the plasma LCAT was 1.00, 0.95, 0.89, 0.40, 0.85, 0.82 and 0.80, 0.69 and 0.82, respectively. The esterification by the tissue ACAT was 1.00, 1.29, 0.75, 0.49, 0.45, 1.21 and 0.74, respectively. The predominant fatty acid of the sterol esters was linoleic acid for LCAT and oleic acid for ACAT. We compared the esterification of two sterols differing by only one functional group (a chemical group attached to sterol nucleus) and were able to quantify the effects of individual functional groups on sterol esterification. The saturation of the A ring of cholesterol increased ester formation by ACAT by 29% and decreased the esterification by LCAT by 5.9%. Esterification by ACAT and LCAT was reduced, respectively, by 25 and 11% by the presence of an additional methyl group on the side chain of cholesterol at the C-24 position. This data supports our hypothesis that the structure of the sterol substrate has a significant effect on its esterification by ACAT or LCAT. PMID:19679306
Lin, Don S; Steiner, Robert D; Merkens, Louise S; Pappu, Anuradha S; Connor, William E
Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.
Bedrosian, Sara R.; Daniels, Elvan; Duquette, Debra; Hampel, Heather; Jasperson, Kory; Joseph, Djenaba A.; Kaye, Celia; Lubin, Ira; Meyer, Laurence J.; Reyes, Michele; Scheuner, Maren T.; Schully, Sheri D.; Senter, Leigha; Stewart, Sherri L.; Pierre, Jeanette St.; Westman, Judith; Wise, Paul; Yang, Vincent W.; Khoury, Muin J.
Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships. PMID:22237445
Bellcross, Cecelia A; Bedrosian, Sara R; Daniels, Elvan; Duquette, Debra; Hampel, Heather; Jasperson, Kory; Joseph, Djenaba A; Kaye, Celia; Lubin, Ira; Meyer, Laurence J; Reyes, Michele; Scheuner, Maren T; Schully, Sheri D; Senter, Leigha; Stewart, Sherri L; St Pierre, Jeanette; Westman, Judith; Wise, Paul; Yang, Vincent W; Khoury, Muin J
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; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia
Introduction Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one case of Burkitt's lymphoma presenting with toothache, paresthesia, and Horner's syndrome has been described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner's syndrome currently exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases. Case presentation A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular lymphadenopathy and Horner's syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas, multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men. Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute lymphoblastic leukemia. Conclusions We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a neurofibromatosis type 1 patient with Horner's syndrome. Horner's syndrome can be an initial manifestation of diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner's syndrome should always be fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.
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 Del(5q); 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); Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia
The purpose of this study was to analyse the validity and the eco- nomic efficiency of a portable monitor of respiratory parameters (PMRP), used in a home setting for the diagnosis of sleep apnoea\\/hypopnoea syndrome (SAHS). Eighty nine patients with suspected SAHS were studied in two settings: in the sleep laboratory using full-polysomnography (full-PSG); and at the patient's home using
O. Parra; N. García-Esclasans; J. M. Montserrat; L. García Eroles; J. Ruíz; J. A. López; J. M. Guerra; J. J. Sopeña
Background Prompt diagnosis of acute myocardial infarction or acute coronary syndrome is very important. Aim A systematic review was conducted to determine the accuracy of 10 important signs and symptoms in selected and non-selected patients. Design of study Diagnostic meta-analysis. Method Using MEDLINE, CINAHL, EMBASE, tracing references, and by contacting experts, studies were sought out that described one of the 10 signs and symptoms on one or both conditions. Studies were excluded if they were not based on original data. Validity was assessed using QUADAS and all data were pooled using a random effects model. Results Sixteen of the 28 included studies were about patients who were non-selected. In this group, absence of chest-wall tenderness on palpation had a pooled sensitivity of 92% (95% confidence interval [CI] = 86 to 96) for acute myocardial infarction and 94% (95% CI = 91 to 96) for acute coronary syndrome. Oppressive pain followed with a pooled sensitivity of 60% (95% CI = 55 to 66) for acute myocardial infarction. Sweating had the highest pooled positive likelihood ratio (LR+), namely 2.92 (95% CI = 1.97 to 4.23) for acute myocardial infarction. The other pooled LR+ fluctuated between 1.05 and 1.49. Negative LRs (LR?) varied between 0.98 and 0.23. Absence of chest-wall tenderness on palpation had a LR? of 0.23 (95% CI = 0.18 to 0.29). Conclusions Based on this meta-analysis it was not possible to define an important role for signs and symptoms in the diagnosis of acute myocardial infarction or acute coronary syndrome. Only chest-wall tenderness on palpation largely ruled out acute myocardial infarction or acute coronary syndrome in low-prevalence settings.
Bruyninckx, Rudi; Aertgeerts, Bert; Bruyninckx, Pieter; Buntinx, Frank
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.
Saitoh, Shinji; Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan); Mutirangura, A.; Kuwano, A.; Ledbetter, D.H. [Baylor College of Medicine, Houston, TX (United States)
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.
Karimi, Hamideh; Sabbaghian, Marjan; Haratian, Kaveh; Vaziri Nasab, Hamed; Farrahi, Faramarz; Moradi, Shabnam Zari; Tavakolzadeh, Tayebeh; Beheshti, Zahra; Gourabi, Hamid; Meybodi, Anahita Mohseni
Aims As arrhythmias in the long QT syndrome (LQTS) are triggered by heart rate deceleration or acceleration, we speculated that the sudden bradycardia and subsequent tachycardia that follow adenosine injection would unravel QT changes of diagnostic value in patients with LQTS. Methods and results Patients (18 LQTS and 20 controls) received intravenous adenosine during sinus rhythm. Adenosine was injected at incremental doses until atrioventricular block or sinus pauses lasting 3 s occurred. The QT duration and morphology were studied at baseline and at the time of maximal bradycardia and subsequent tachycardia. Despite similar degree of adenosine-induced bradycardia (longest R-R 1.7 + 0.7 vs. 2.2 + 1.3 s for LQTS and controls, P = NS), the QT interval of LQT patients increased by 15.8 + 13.1%, whereas the QT of controls increased by only 1.5 + 6.7% (P<0.001). Similarly, despite similar reflex tachycardia (shortest R-R 0.58 + 0.07 vs. 0.55 + 0.07 s for LQT patients and controls, P = NS), LQTS patients developed greater QT prolongation (QTc = 569 + 53 vs. 458 + 58 ms for LQT patients and controls, P<0.001). The best discriminator was the QTc during maximal bradycardia. Notched T-waves were observed in 72% of LQT patients but in only 5% of controls during adenosine-induced bradycardia (P<0.001). Conclusion By provoking transient bradycardia followed by sinus tachycardia, this adenosine challenge test triggers QT changes that appear to be useful in distinguishing patients with LQTS from healthy controls.
Viskin, Sami; Rosso, Raphael; Rogowski, Ori; Belhassen, Bernard; Fourey, Dana; Zeltser, David; Rozovski, Uri; Levitas, Aviva; Wagshal, Abraham; Katz, Amos; Oliva, Antonio; Pollevick, Guido D.; Antzelevitch, Charles
Nocardia farcinica is a Gram-positive weakly acid-fast filamentous saprophytic bacterium, an uncommon cause of human infections, acquired usually through the respiratory tract, often life-threatening, and associated with different clinical presentations. Predisposing conditions for N. farcinica infections include hematologic malignancies, treatment with corticosteroids, and any other condition of immunosuppression. Clinical and microbiological diagnoses of N. farcinica infections are troublesome, and the isolation and identification of the etiologic agent are difficult and time-consuming processes. We describe a case of fatal disseminated infection in a patient with myelodysplastic syndrome, treated with corticosteroids, in which N. farcinica has been isolated from blood culture and identified by Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry. The patient died after 18 days of hospitalization in spite of triple antimicrobial therapy. Nocardia farcinica infection should be suspected in patients with history of malignancy, under corticosteroid therapy, suffering from subacute pulmonary infection,and who do not respond to conventional antimicrobial therapy. Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry can be a valuable tool for rapid diagnosis of nocardiosis.
Moretti, Amedeo; Guercini, Francesco; Cardaccia, Angela; Furbetta, Leone; Agnelli, Giancarlo; Bistoni, Francesco; Mencacci, Antonella
Diffuse alveolar damage (DAD) is the underlying pathological finding in most cases of acute respiratory distress syndrome (ARDS). The objective of this study was to compare clinical criteria for ARDS secondary to community acquired pneumonia with autopsy findings of DAD and to determine the discrepancy rate between the two. We compared prospectively obtained clinical diagnosis of ARDS secondary to community acquired pneumonia with autopsy findings of DAD and pneumonia. Forty nine patients dead with a clinical diagnosis of ARDS secondary to pneumonia who underwent autopsy between 1986 and 2004 in our ICU were included with systematic histopathological analysis of all lung lobes. The discrepancy rate between the premortem clinical diagnosis of ARDS secondary to pneumonia and DAD at autopsy was determined. Seven patients were found to have neither infection nor DAD at autopsy. Six patients showed pathologic signs of DAD without evidence of infection. Out of 38 patients meeting clinical criteria for ARDS secondary to pneumonia and proven pneumonia at autopsy, 25 met criteria for DAD at autopsy. Therefore, 18 out of 49 patients who were clinically diagnosed with ARDS did not actually show pathological signs of DAD, resulting in a discrepancy rate of 37%. Despite an acceptable correspondence between clinical criteria for ARDS secondary to pneumonia and autopsy findings of DAD a significant number of patients had neither signs of DAD nor infection. PMID:21570273
Sarmiento, Xavier; Guardiola, Juan J; Almirall, Jordi; Mesalles, Eduard; Mate, Jose Luis; Soler, Manuel; Klamburg, Jordi
Why Metabolic Syndrome Matters Updated:Mar 13,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696
Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule
We report a case of subclavian steal syndrome diagnosed by radionuclide arteriogram and subsequently confirmed by contrast arteriogram. We suggest that radionuclide arteriogram may sometimes be useful as a screening test. PMID:6090049
Cox, W M; Abghari, R
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis.
Fiaschetti, Valeria; Taglieri, Amedeo; Gisone, Vito; Coco, Irene; Simonetti, Giovanni
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis. PMID:22690292
Fiaschetti, Valeria; Taglieri, Amedeo; Gisone, Vito; Coco, Irene; Simonetti, Giovanni
We sought to determine the impact of prenatal diagnosis on the perioperative outcome of newborns with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA). All neonates with HLHS or TGA encountered at Children’s Hospital, Boston, Massachusetts, from January 1988 to May 1996 were identified and outcomes documented. Birth characteristics, preoperative, operative, and postoperative variables of term
R. Krishna Kumar; Jane W Newburger; Kimberlee Gauvreau; Steven A Kamenir; Lisa K Hornberger
BACKGROUND: Chronic exertional compartment syndrome (CECS) is characterized by elevated pressures within a closed space of an extremity muscular compartment, causing pain and\\/or disability by impairing the neuromuscular function of the involved compartment. The diagnosis of CECS is primarily made on careful history and physical exam. The gold standard test to confirm the diagnosis of CECS is invasive intra-compartmental pressure
Eric H Williams; Don E Detmer; Gregory P Guyton; A Lee Dellon
This follow-up study reports data on 18 children fulfilling the ICD-10 criteria for childhood autism (n = 9) and Asperger syndrome (n = 9). In connection with the present study the original child psychiatric records were reassessed according to the ICD-10 criteria. The children were followed over a period of 30 years. The mean age at the time of study was 38 years. The results show that in adulthood the autistic patients had a poorer outcome than children with Asperger syndrome as regards education, employment, autonomy, marriage, reproduction and the need for continuing medical and institutional care. Particular attention is given to pharmacotherapy and the relationship between the childhood disorder and psychiatric morbidity in adult life. PMID:9442996
Larsen, F W; Mouridsen, S E
This follow-up study reports data on 18 children fulfilling the ICD-10 criteria for childhood autism (n=9) and Asperger syndrome (n=9). In connection with the present study the original child psychiatric records were reassessed according to the ICD-10 criteria. The children were followed over a period of 30 years. The mean age at the time of study was 38 years. The
F. W. Larsen; S. E. Mouridsen
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
Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.
Arora, Vipul; Kim, Usha R; Khazei, Hadi M
Lemierre syndrome is an uncommon disease which commonly arise from acute bacterial oropharyngeal infection. This disease was first described in 1900 by Courmont and Cade Lemierre. It is commonly caused by Fusobacterium necrophorum. Lemierre syndrome has been reported to be serious and potentially fatal in the preantibiotic era. It is characterized by an oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein with embolization to the lungs and other organs. The incidence has become relatively rare at present and is usually only diagnosed when unsuspected culture results are available. We report a case of Lemierre syndrome which was recently diagnosed in our centre. PMID:23082433
Lim, Ai Lee; Pua, Kin Choo
Walnuts ( Juglans regia L.), hazelnuts ( Corylus avellana L.), and almonds ( Prunus dulcis Mill.) are rich sources of ellagitannins and proanthocyanidins. Gut microbiota plays a crucial role in modulating the bioavailability of these high molecular weight polyphenols. However, to date there are no studies evaluating the capacity to produce nut phenolic metabolites in subjects with metabolic syndrome (MetS), a pathology associated with an altered gut bacterial diversity. This study applied a LC-MS targeted approach to analyze the urinary excretion of nut phenolic metabolites in MetS subjects following 12 weeks of nut consumption, compared to sex- and age-matched individuals given a nut-free control diet. Metabolites were targeted in both hydrolyzed and nonhydrolyzed urine by LC-PDA-QqQ-MS/MS analysis, and identification of metabolites lacking available standards was confirmed by LC-ESI-ITD-FT-MS. Ellagitannin-derived urolithins A and B significantly increased after the nut-enriched-diet, urolithins C and D were also detected, and a complex combination of urolithin-conjugated forms was observed in nonhydrolyzed urine, confirming an extensive phase II metabolism after absorption. In contrast, no significant increases in proanthocyanidin microbial metabolites were observed in urine following nut consumption. Because the intestinal microbiota of the subjects in this study could catabolize ellagitannins into a wide range of urolithins, further research is strongly warranted on the in vivo potential of these microbial metabolites in reducing cardiometabolic risk. PMID:22631214
Tulipani, Sara; Urpi-Sarda, Mireia; García-Villalba, Rocío; Rabassa, Montserrat; López-Uriarte, Patricia; Bulló, Mònica; Jáuregui, Olga; Tomás-Barberán, Francisco; Salas-Salvadó, Jordi; Espín, Juan Carlos; Andrés-Lacueva, Cristina
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process. PMID:23371450
Wood, Timothy C; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J; D'Almeida, Vânia; van Diggelen, Otto P; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J
The concept of diagnostic accuracy is examined and redefined to support specific criteria for sensor placement. If the correctness of diagnoser operation is assumed, then any failure to diagnose accurately must be attributable to an inadequacy of sensor data. Inaccuracy in diagnoses can be expressed solely in terms of additional candidates whose faults cannot be ruled out. With ambiguity as
... Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome (CFS) can ... A Case-Based Approach Medscape Course on CFS - Challenges in Primary Care Cytokines and the Symptoms of ...
We propose a probabilistic methodology for deducing a syndrome or syndromes (possibly induced by chemical/biological agents) associated with a large number of people from certain geographic areas that have well-established diagnoses and symptoms. Here, us...
J. Z. Soln
Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A diagnosis of neurofibromatosis was suggested in 1909 and was widely accepted. There is no evidence, however, of café au lait spots or histological proof of neurofibromas. It is also clear that Joseph Merrick's manifestations were much more bizarre than those
J A Tibbles; M M Cohen
A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor.
Cook, David M.; Kendall, John W.; Jordan, Richard
Raynaud's phenomenon (RP) is characterized by repeated vasospastic attacks of the distal extremities induced by cold, humidity, vibrations or emotional stress. It typically presents a triphasic colour change from white (palor; vasoconstriction) to blue (cyanosis) and red (reactive hyperaemia). The symptoms are based on a primary RP in 90?%. Secondary RP is a symptom of an underlying disease. RP has to be distinguished from other colour changes of the distal extremities like acrocyanosis, erythromelalgia, perniosis and Chilblain-Lupus. Patients history, clinical examination, ANA, ESR/CRP and nailfold capillaroscopy are essential for the early diagnosis of an underlying disease. The initiation of angiologic tests is important in patients with digital ulcers, necrosis or gangrene. Important differential diagnoses in secondary RP are autoimmune rheumatic diseases like systemic sclerosis and systemic lupus erythematodes as well as vascular diseases like arterial occlusions and compression syndromes or concomitant medication (i.?e. beta-blocker). PMID:24801303
Ahrazoglu, M; Moinzadeh, P; Hunzelmann, N
Ulnar neuropathy at or distal to the wrist, the so-called ulnar tunnel syndrome, is an uncommon but well-described condition. However, diagnosis of ulnar tunnel syndrome can be difficult. Paresthesias may be nonspecific or related to coexisting pathologies, such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, C8-T1 radiculopathy, or peripheral neuropathy, which makes accurate diagnosis challenging. The advances in electrodiagnosis, ultrasonography, computed tomography, and magnetic resonance imaging have improved the diagnostic accuracy. This article offers an updated view of ulnar tunnel syndrome as well as its etiologies, diagnoses, and treatments. PMID:24559635
Chen, Shih-Heng; Tsai, Tsu-Min
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 ...
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.
Stolinsky, David C.
Hyperglycemic hyperosmolar nonketotic syndrome (HHNS) was infrequently diagnosed till recently. Now it is being diagnosed\\u000a with increasing frequency in obese children with type 2 diabetes mellitus (T2 DM) and its incidence is likely to go up, given\\u000a global increase in incidence of childhood obesity, increased insulin resistance, and T2 DM. The syndrome is characterized\\u000a by severe hyperglycemia, a marked increase
R. Venkatraman; Sunit C. Singhi
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;…
Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.
... Wellness PCF Spotlight Glossary African American Men Understanding Prostate Cancer Newly Diagnosed Newly Diagnosed Staging the Disease ... you care about has recently been diagnosed with prostate cancer, this section will help guide you through ...
Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…
Mason, Linda; Cunningham, Cliff
APS\\/Hughes syndrome is an increasingly diagnosed condition. This chapter emphasizes the need for clinicians to consider the\\u000a full range of differential diagnoses for each clinical state, so that the correct diagnosis is reached in an individual patient.
Beverley J. Hunt; Paul R. J. Ames
Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital
The prevalence of Asperger Syndrome appears to be increasing, yet many individuals are still not being diagnosed during their school years. It is imperative to disseminate knowledge regarding the characteristics of Asperger Syndrome to parents and educational, mental health, and medical professionals so that this condition can be recognized early, and appropriate interventions can be provided to assist individuals with
Gena P. Barnhill
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…
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.
Available categorization systems for violence encountered in medical practice do not constitute optimal tools to guide management. In this article, 4 common patterns of violence across psychiatric diagnoses are described (defensive, dominance-defining, impulsive, and calculated) and management implications are considered. The phenomenologic and neurobiological rationale for a clinical classification system of violence is also presented.
PURPOSE: To report the first Japanese case of the Susac syndrome characterized by microangiopathy of the brain, retina, and cochlea.METHODS: Case report. A 36-year-old Japanese man underwent extensive clinical and laboratory examination for encephalopathy, bilateral recurrent branch retinal arterial occlusion, and hearing loss.RESULTS: This case was initially diagnosed as acute disseminated encephalomyelitis. Despite exhaustive clinical and laboratory examination of the
Yasuhiro Murata; Koichiro Inada; Akira Negi
We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susac's syndrome. PMID:14968224
Lammouchi, Turkia M; Bouker, Samira M; Grira, Mounir T; Benammou, Sofien A
Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital tunnel syndrome was reviewed, and key papers on upper limb and hand surgery were discussed with colleagues.
... Type Kyphoscoliosis Type Arthrochalasia Type Dermatosparaxis Type Tenascin-X Deficient Type web site by ~ Lynn Sanders A Genetic Connective Tissue Disorder How are Ehlers-Danlos syndromes diagnosed? The diagnosis of Ehlers-Danlos syndrome is ...
In the present study a quantitative description is given of diagnoses and interventions in podiatry. Data are used from a survey on podiatry practice in The Netherlands. Data have been recorded by 36 podiatrists on 897 patients. Information was gathered on patient characteristics, the medical diagnoses, the podiatry diagnoses (impairments and disabilities), treatment goals derived from these diagnoses, and interventions.
Walter M. Zuijderduin; Joost Dekker
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.
Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat
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.
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.
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.
A diagnostic is inference to the state of a system from its observed and its expected behaviors. When no complete description is available--and this is not out of the ordinary in real-world applications--diagnosing a system cannot be done in a pure deductive way. To be more specific, deduction allows us to derive only partial diagnoses that must be completed to get closer to the actual one. Subsequently, searching for better diagnoses requires hypothetical reasoning, where the assumptions to be generated aim at reflecting the diagnostician beliefs. In the frame of hypothetico-deductive diagnostic, several approaches have been pointed out so far. The consistency-based method is the simplest one. It sanctions the lack of evidence that a component of a system fails by jumping to the conclusion that this component behaves correctly. In contrast to the consistency-based approach, the circumscription-based and the deductive/abductive methods take into account how components behave to complete what is deductively generated. This paper is devoted to a comparison of the consistency-based, the circumscription-based, and the deductive/abductive approaches to diagnostic. Its expected purpose is to provide a deeper understanding of both techniques. It is organized as follows: problem formulation and terminology are introduced in Section 2; Section 3 proposes a brief overview of the consistency-based, the circumscription-based, and the deductive/abductive methods; Section 4 details and compares the preference criteria each approach supports; Section 5 illustrates this comparison on a simple example; and Section 6 concludes this paper.
Upper Airway Resistance Syndrome (UARS) is characterized with daytime sleepiness and cardiovascular disturbances, because of the repetitive increase of upper airway resistance leading to arousals. UARS, can easily be overlooked because the conventional polysonographic measurements are not sensitive enough to diagnose this syndrome, therefore the prevalence and morbidity of this syndrome is not known. Measuring the increased inspiratory effort by an esophageal balloon during the rising upper airway resistance is the gold standard technique for the diagnosis. Treatment of UARS is similar with Obstructive Sleep Apnea Syndrome (OSAS). In this article the clinical picture, diagnosis, and management of the UARS is reviewed. PMID:15143431
Köktürk, O?uz; Güven, Selma Firat
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.
Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)
Bilateral optic disc swelling requires following a number of steps from discovery to causal diagnosis. First, it is necessary to differentiate between true optic disc swelling and disc elevation without true swelling. Then fundus examination, visual acuity and visual field, fluorescein angiography, and optical coherence tomography are performed in order to differentiate papilledema secondary to increased intracranial pressure from optic disc swelling secondary to optic neuropathy. Even if the most frequent etiology is idiopathic intracranial hypertension, the clinician must check for the absence of any signs or symptoms related to hypertension secondary to a cerebral tumor or to cerebral venous thrombosis. Fortunately, modern imaging techniques have facilitated the differential diagnoses of optic disc swelling, and the combination of magnetic resonance imaging (MRI) and magnetic resonance venography appears to be necessary each time the diagnosis of idiopathic hypertension is suggested. PMID:20493584
Renal vein compression syndromes are rare causes of hematuria and can be divided into anterior and posterior nutcracker syndrome. When the left renal vein is compressed between the aorta and the superior mesenteric artery it causes anterior nutcracker syndrome. The posterior nutcracker syndrome is very rare and is considered when the left renal vein is compressed between the aorta and vertebral column. Symptoms of nutcracker syndromes may include intermittent left flank pain associated with hematuria, proteinuria, and sometimes with symptoms of pelvic congestion. Diagnosis is often difficult and plan for treatment is always challenging and requires careful evaluation of the patient's history and workup findings. We present a rare case report of a posterior nutcracker syndrome diagnosed in a young lady with long-standing symptoms that required surgical intervention. PMID:21890560
Skeik, Nedaa; Gloviczki, Peter; Macedo, Thanila A
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044
Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan
The alleviation of suffering is crucial in all of medicine, especially in the care of the dying. Suffering cannot be treated unless it is recognized and diagnosed. Suffering involves some symptom or process that threatens the patient because of fear, the meaning of the symptom, and concerns about the future. The meanings and the fear are personal and individual, so that even if two patients have the same symptoms, their suffering would be different. The complex techniques and methods that physicians usually use to make a diagnosis, however, are aimed at the body rather than the person. The diagnosis of suffering is therefore often missed, even in severe illness and even when it stares physicians in the face. A high index of suspicion must be maintained in the presence of serious disease, and patients must be directly questioned. Concerns over the discomfort of listening to patients' severe distress are usually more than offset by the gratification that follows the intervention. Often, questioning and attentive listening, which take little time, are in themselves ameliorative. The information on which the assessment of suffering is based is subjective; this may pose difficulties for physicians, who tend to value objective findings more highly and see a conflict between the two kinds of information. Recent advances in understanding how physicians increase the utility of information and make inferences allow one to reliably use the subjective information on which the diagnosis and treatment of suffering depend. Knowing patients as individual persons well enough to understand the origin of their suffering and ultimately its best treatment requires methods of empathic attentiveness and nondiscursive thinking that can be learned and taught. The relief of suffering depends on physicians acquiring these skills. PMID:10507963
Cassell, E J
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.
Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet
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
Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet
Zusammenfassung Bei einer 35jährigen Patientin bestanden seit Jahren Neutropenie und Infektanfälligkeit. Die Diagnose eines „Lazy Leukocyte“Syndroms ergab sich aus folgenden Befunden: gestörte Neutrophilen-Chemotaxis; eingeschränkte ungerichtete Motilität und In-vivo-Migration; verminderte Granulozyten-Freisetzung aus dem Knochenmark bei EtiocholanolonReiz trotz normaler Knochenmarks-Zellularität. Klinische Befunde und pathophysiologische Aspekte der bisher mitgeteilten 5 Fälle dieses Syndroms werden besprochen.
F. Patrone; F. Dallegri; A. Rebora; C. Sacchetti
IntroductionClassifying symptoms by patient pain drawing (PPD) may be helpful in diagnosing chronic anterior compartment syndrome (CACS). We have investigated the sensitivity and interobserver reliability of the PPD to diagnose CACS among patients with exercise-induced leg pain (EILP).MethodsThis study included 88 consecutive patients (48 men, 40 women; mean age 33, range 13–66, years). Two observers independently diagnosed the causes of
K Rennerfelt; Q Zhang; J Styf
The chronic Epstein-Barr virus syndrome is a poorly defined symptom complex characterized primarily by chronic or recurrent debilitating fatigue and various combinations of other symptoms, including sore throat, lymph node pain and tenderness, headache, myalgia, and arthralgias. Although the syndrome has received recent attention, and has been diagnosed in many patients, the chronic Epstein-Barr virus syndrome has not been defined
GARY P. HOLMES; JONATHAN E. KAPLAN; NELSON M. GANTZ; ANTHONY L KOMAROFF; LAWRENCE B. SCHONBERGER; STEPHEN E. STRAUS; JAMES F. JONES; RICHARD E. DUBOIS; CHARLOTTE CUNNINGHAM-RUNDLES; SAVITA PAHWA; GIOVANNA TOSATO; LEONARD S. ZEGANS; DAVID T. PURTILO; NATHANIEL BROWN; ROBERT T. SCHOOLEY; IRENA BRUS; Georgia Atlanta
Clinical manifestations correlated to the prevalence of autoantibodies in a large (n=321) cohort of patients with primary Sjögren's syndrome: a comparison of patients initially diagnosed according to the Copenhagen classification criteria with the American-European consensus criteria.
In this study we imposed the recently described American-European consensus criteria for primary Sjögren's syndrome (pSS) on a large cohort of patients originally classified according to the Copenhagen set of criteria. Of the 321 patients fulfilling the Copenhagen criteria, 205 conformed to the Consensus criteria. When comparing clinical manifestations and laboratory findings between the two groups defined by different standards we found only small variations. Thus, the consequence of using the Consensus criteria in daily clinical practice will lead to the exclusion of a considerable proportion of patients with classical features of pSS. The main reason for this discrepancy is probably the absolute requirement of a positive test for anti-Ro/La or a characteristic lymphocytic infiltration in the labial gland biopsy. The sensitivity and specificity of testing for autoantibodies to Ro-52, Ro-60, and La were calculated for each set of criteria. Antibodies to La but not to Ro-52 or Ro-60 were strongly correlated to internal organ (kidney, lung, liver) dysfunction in pSS (OR 6; 95% CI 3-12), p<0.0001. Although presence of ANA was slightly more prevalent among patients with internal organ involvement it did not reach statistical significance. The fine speckled ANA pattern was most often found followed by the homogeneous and centromere pattern. Individual ANA patterns did not correlate with any particular organ manifestation. PMID:15990074
Locht, Henning; Pelck, Randi; Manthorpe, Rolf
The nutcracker syndrome, caused by compression of the left renal vein between the superior mesenteric artery and the aorta, usually manifests with hematuria, flank pain and proteinuria. We report on a 9-year-old boy who was previously diagnosed with urolithiasis but had significant proteinuria, not explained by this diagnosis. On further investigation by renal Doppler ultrasonography it was found that he had nutcracker syndrome. We would like to emphasize that this syndrome should be considered where there is no obvious cause of proteinuria and hematuria. PMID:20594917
Altugan, F Semsa; Ekim, Mesiha; Fitöz, Suat; Ozçakar, Z Birsin; Burgu, Berk; Yalç?nkaya, Fato?; Soygür, Tarkan
Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330
Sucher, Benjamin M; Schreiber, Adam L
Objective: To report a case of Wells syndrome (eosinophilic cellulitis) in a patient who was previously hospitalized twice and received several antibiotic treatments. Setting: Inpatient hospital consultation. Participant: One patient diagnosed with Wells Syndrome based on supporting clinical history, histopathological examination, and other laboratory data. Measurement: Change in signs and symptoms over time. Results: Improvement of skin lesions after administration of corticosteroids. Conclusion: Wells syndrome is a clinical condition that mimics bacterial cellulitis. It is characterized as an erythematous, edematous tender plaque with predilection for the lower extremity. The authors report this case to warn clinicians about other primary dermatological disorders that resemble infectious cellulitis in order to avoid misdiagnoses and delayed treatment.
Coloe, Jacquelyn; Peters, Sara; Zirwas, Matthew; Darabi, Kamruz
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.
Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V
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
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
The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are all rare diseases, they are little known by clinicians, who therefore tend to suspect the most common forms. Second, making a definite diagnosis often requires complex laboratory techniques that are available in only a few centers. Finally, half of the patients have forms that have not yet been described. As a consequence, many patients with inherited thrombocytopenias are misdiagnosed with immune thrombocytopenia, and are at risk of receiving futile treatments. Misdiagnosis is particularly frequent in patients whose low platelet count is discovered in adult life, because, in these cases, even the inherited origin of thrombocytopenia may be missed. Making the correct diagnosis promptly is important, as we recently learned that some forms of inherited thrombocytopenia predispose to other illnesses, such as leukemia or kidney failure, and affected subjects therefore require close surveillance and, if necessary, prompt treatments. Moreover, medical treatment can increase platelet counts in specific disorders, and affected subjects can therefore receive drugs instead of platelet transfusions when selective surgery is required. In this review, we will discuss how to suspect, diagnose and manage inherited thrombocytopenias, with particular attention to the forms that frequently present in adults. Moreover, we describe four recently identified disorders that belong to this group of disorders that are often diagnosed in adults: MYH9-related disease, monoallelic Bernard-Soulier syndrome, ANKRD26-related thrombocytopenia, and familial platelet disorder with predisposition to acute leukemia. PMID:23510089
Balduini, C L; Savoia, A; Seri, M
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
David N. Fisman
In this review we summarize a number of cases of Sweet's syndrome (SS) associated with sarcoidosis that have been reported in the English literature. In all of the cases, the two disorders were diagnosed simultaneously. Patients with both disorders were younger and had a higher rate of fever than patients with SS alone. In this group of patients, we found
W. R. Saliba; G. S. Habib; M. Elias
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment. PMID:21342626
Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao
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
Baujat, Geneviève; Cormier-Daire, Valérie
The role of pelvic endoscopy in diagnosing uterine abnormalities, considering material of 1170 patients, is presented in this paper. It has been documented that pelviscopy together with hysterosalpingography play basic role in determining type of uterine abnormality. In 20 cases pelvic endoscopy enabled verification of the primary diagnosis set by hysterosalpingography. Pelvic endoscopy is a method by choice in the diagnostics of the Rokitansky-Küster-Hauser syndrome. PMID:1305571
Korzon, T; Mielnik, J; Adamcio-Deptulska, M; Go?ciniak, W; Lozyk, J
... facial features, can suggest the diagnosis of a genetic disorder. A geneticist will do a thorough physical examination ... and biochemical genetic testing are used to diagnose genetic disorders. Other laboratory tests that measure the levels of ...
This paper reports theory, process, results, and consequences of diagnosing the race relations among managers of a large industrial corporation. A four person diagnostic team consisting of a black female, black male, white female, and white male, aided by...
C. P. Alderfer C. J. Alderfer L. Tucker R. C. Tucker
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. Its incidence in France is estimated at 2.5 per 100,000 population and its prevalence between 5 and 8 per 100,000 inhabitants. Good prognostic factors are age of early onset, a longer time to diagnosis, initial damage to the spinal onset, early management of undernutrition and restrictive respiratory failure. The diagnosis of ALS is primarily clinical and is based on the evidence of involvement of the central motor neuron and peripheral neuron (NMP) in different territories or spinal or bulbar. The EMG confirms the achievement of NMP, shows the extension to clinically preserved areas and allows to exclude some differential diagnoses. The clinical spectrum of ALS is broad: conventional forms beginning brachial, lower limb or bulbar onsets, rarer forms to start breathing, pyramidal forms, forms with cognitive and behavioural impairment. In 5-10% of cases, ALS is familial. In 15% of cases, it is associated with frontotemporal degeneration rather than orbito-frontal type. The main differential diagnoses are guided by the clinic: combining pure motor neuropathy with or without conduction block, post-polio syndrome, cramp-fasciculation syndrome, myasthenia gravis, paraneoplastic syndromes, Sjögren syndrome, retroviral infections, some endocrine disorders, some metabolic diseases, genetic diseases (Kennedy and SMA) and inclusion body myositis. PMID:24703738
Couratier, Philippe; Marin, Benoît; Lautrette, Géraldine; Nicol, Marie; Preux, Pierre-Marie
Abstract Objective To investigate family physicians’ differential diagnoses of clinical-scenario patients presenting with symptoms of either generalized anxiety disorder (GAD) or a major depressive episode (MDE). Design Cross-sectional survey. Setting Saskatchewan. Participants A total of 331 family physicians practising in Saskatchewan as of December 2007. Main outcome measures Type and number of physicians’ differential diagnoses for a GAD-scenario patient and an MDE-scenario patient. Results The survey response rate was 49.7% (331 of 666 surveys returned). Most physicians suggested a diagnosis of anxiety (82.5%) for the GAD-scenario patient and a diagnosis of depression (84.2%) for the MDE-scenario patient. In descending order, the 5 most frequent differential diagnoses for the GAD-scenario patient were anxiety, hyperthyroidism, depression, panic disorder or attack, and bipolar disorder. The 5 most frequent differential diagnoses for the MDE-scenario patient were depression, anxiety, hypothyroidism, irritable bowel syndrome, and anemia. Neither a diagnosis of anxiety nor a diagnosis of depression was associated with physicians’ personal attributes (sex, age, and years in practice) or organizational setting (number of total patient visits per week, private office or clinic, solo practice, Internet access, and rural practice setting). However, physicians in solo practice suggested fewer differential diagnoses for the GAD-scenario patient than those in group practice; physicians in practice 30 years or longer suggested fewer differential diagnoses for the MDE-scenario patient than those in practice fewer than 10 years. On average, physicians suggested 3 differential diagnoses for each of the scenarios. Conclusion Most family physicians recognize depression and anxiety in patients presenting with symptoms of these disorders and consider an average of 3 differential diagnoses in each of these cases.
Kosteniuk, Julie; Morgan, Debra; D'Arcy, Carl
Chylothorax results from various causes, such as malignancy, trauma, or infection. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is a multisystemic syndrome that is associated with plasma cell disorder. Pleural effusion is a common manifestation of POEMS syndrome, but the association of POEMS syndrome with chylothorax has not been reported. We report on a 61-year-old female patient who initially presented with dyspnea and bilateral leg edema. Importantly, the patient had normal renal function. Her chest X-ray and computed tomographic imaging showed bilateral pleural effusion, and her chest drainage revealed chylothorax. Detailed examination failed to reveal the definitive cause of the chylothorax. She received several treatments for chylothorax, namely, a low-fat diet or fasting, total parenteral nutrition, a somatostatin analog (octreotide), thoracic duct ligation by video-assisted thoracic surgery, and pleurodesis. However, further examination revealed endocrinopathy, monoclonal plasma cell disorder, peripheral neuropathy, and elevation of the serum level of vascular endothelial growth factor. The patient's condition was consequently diagnosed as POEMS syndrome. Eventually, her chylothorax was controlled by pleurodesis, and she was transferred to another hospital for stem cell transplantation. Herein, we report on the apparent first case of POEMS syndrome with chylothorax. In some cases of idiopathic chylothorax, the underlying primary disease may be latent, such as in the present patient. POEMS syndrome is rare, but this syndrome should be included in the differential diagnosis of chylothorax with unexplained etiology. PMID:24477187
Kudo, Yujin; Miura, Hiroyuki; Nakajima, Eiji; Takahashi, Hidenobu; Aoki, Akiko; Ikeda, Norihiko
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 .
Malaki, Majid; Rafeey, Mandana
We describe a patient with trichorhinophalangeal syndrome type I (TRPS-I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip, and a horizontal groove on the chin. There may be clinobrachydactyly with ulnar deviation and dystrophic nails. The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12. Patients with all variants of TRPS need prompt and accurate assessment because musculoskeletal dysplasia is a universal feature in this syndrome. We review TRPS and similar syndromes to assist the accurate diagnosis of these lifelong maladies. PMID:8034799
Carrington, P R; Chen, H; Altick, J A
NINDS Asperger Syndrome Information Page Condensed from Asperger Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Asperger Syndrome? Asperger syndrome (AS) is a developmental disorder. ...
NINDS Cushing's Syndrome Information Page Synonym(s): Hypercortisolism Table of Contents (click to jump to sections) What is Cushing's Syndrome? Is ... is being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare ...
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929
Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami
Background Shoulder pain is common in the general population. Reports on specific diagnoses in general populations are scarce and only from primary care. The diagnostic distribution of shoulder disorders in secondary care is not reported. Most of the clinical research in the shoulder field is done in hospital settings. The aim of this study was to identify the diagnoses in a 1-year cohort in a hospital-based outpatient clinic using standardized diagnostic criteria and to compare the results with previous studies. Methods A diagnostic routine was conducted among patients referred to our physical medicine outpatient clinic at Oslo University Hospital. Diagnostic criteria were derived from the literature and supplemented with research criteria. Results Of 766 patients diagnosed, 55% were women and the mean age was 49 years (range 19–93, SD?±?14). The most common diagnoses were subacromial pain (36%), myalgia (17%) and adhesive capsulitis (11%). Subacromial pain and adhesive capsulitis were most frequent in persons aged 40–60 years. Shoulder myalgia was most frequent in age groups under 40. Labral tears and instability problems (8%) were most frequent in young patients and not present after age 50. Full-thickness rotator cuff tears (8%) and glenohumeral osteoarthritis (4%) were more prevalent after the age of 60. Few differences were observed between sexes. We identified three studies reporting shoulder diagnoses in primary care. Conclusion Subacromial pain syndrome, myalgia and adhesive capsulitis were the most prevalent diagnoses in our study. However, large differences in prevalence between different studies were found, most likely arising from different use of diagnostic criteria and a difference in populations between primary and secondary care. Of the diagnoses in our cohort, 20% were not reported by the studies from primary care (glenohumeral osteoarthritis, full thickness rotator cuff tears, labral tears and instabilities).
An economic evaluation of oral compared with intravenous ganciclovir for maintenance treatment of newly diagnosed for maintenance treatment of newly diagnosed cytomegalovirus retinitis in AIDS patients
This prospective, clinical economic study was done to determine the cost impact of oral compared with intravenous (IV) ganciclovir for the maintenance treatment of newly diagnosed cytomegalovirus (CMV) retinitis in patients with acquired immunodeficiency syndrome (AIDS). Efficacy and safety data were extracted from a trial of oral and IV ganciclovir. Medical care utilization and reimbursement data were obtained from the
Sean D. Sullivan; Essy Mozaffari; Eric S. Johnson; Richard Wolitz; Stephen E. Follansbee
Central nervous system manifestations of West Nile virus (WNV) infection include meningitis, encephalitis, and poliomyelitis-like syndrome. We describe a 44-year-old man with no past medical history who presented with a meningoencephalitic syndrome and spastic paralysis bilaterally in the upper and lower extremities, hyperreflexia, and myoclonus and was ultimately diagnosed as being infected with HIV and WNV.
Josekutty, Joby; Yeh, Richard; Mathew, Sheena; Ramessar, Nina; Trinidad, Jennilee
Burning mouth syndrome (BMS) is a chronic condition that is characterized by burning symptoms of the oral mucosa without obvious clinical examination findings. This syndrome has complex characteristics, but its cause remains largely enigmatic, making treatment and management of patients with BMS difficult. Despite not being accompanied by evident organic changes, BMS can significantly reduce the quality of life for such patients. Therefore, it is incumbent on dental professionals to diagnose and manage patients with BMS as a part of comprehensive care. PMID:23809306
Thoppay, Jaisri R; De Rossi, Scott S; Ciarrocca, Katharine N
Bazex syndrome is a paraneoplastic dermatosis characterized by acral psoriasiform lesions associated with an underlying neoplasm. We present the case of a 64-year-old patient that was diagnosed with squamous cell lung carcinoma after being evaluated for lesions compatible with paraneoplastic acrokeratosis. With a high frequency Bazex syndrome is the earliest marker of an underlying subclinical neoplasm. An early suspicion is of the outmost importance in order to perform a prompt diagnosis of an underlying malignancy. We propose a diagnostic algorithm upon suspicion of acrokeratosis paraneoplastica and review the pathogenesis of this entity. PMID:15857461
Valdivielso, M; Longo, I; Suárez, R; Huerta, M; Lázaro, P
Alport syndrome is a progressive hereditary disease caused by mutations in the genes encoding type IV collagen. Persistent microscopic hematuria is the hallmark of Alport syndrome, occurring in almost all boys according to previous reports. We report the case of a 20-year-old man presented with proteinuria but no hematuria that was initially misdiagnosed with refractory nephrotic syndrome and was eventually diagnosed with Alport syndrome following kidney and skin biopsy. During the follow-up period, he experienced a rapid progression to end-stage renal disease. Timely diagnosis of Alport syndrome is important, because patients may benefit from early intervention and avoid suffering from unnecessary nephrotoxic drug use. PMID:24878952
Yin-Yin, Chen; You-Ming, Peng; Yu-Mei, Liang
Objetive: To comment on the rare causes of a diagnosis as common as subachromial syndrome. Material and method: A young patient presented with several months of pain in the left arm. Subachromial syndrome was diagnosed following the history and physical examination with passive, active and counter-re- sistance locomotion maneuvers. The study was subsequently completed with plain X-rays, computed axial to-
Chaparro Recio M; Viana López R
The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a
Ana R Casaroto; Daniela CN Rocha Loures; Eduardo Moreschi; Vanessa C Veltrini; Cleverson L Trento; Vilmar D Gottardo; Vanessa S Lara
Children diagnosed with Asperger syndrome present a special challenge in the educational milieu. This article provides teachers with descriptions of seven defining characteristics of Asperger syndrome, in addition to suggestions and strategies for addressing these symptoms in the classroom. Behavioral and academic interventions based on the author's teaching experiences with children with Asperger syndrome are offered.
Children diagnosed with Asperger Syndrome present a special challenge in the educational milieu. This article provides teachers with descriptions of seven defining characteristics of Asperger Syndrome, in addition to suggestions and strategies for addressing these symptoms in the classroom. Behavioral and academic interventions based on the author's teaching experiences with children with Asperger Syndrome are offered.
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933
Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul
Zusammenfassung Das Shaken-baby-Syndrom (SBS) oder Schütteltrauma des Säuglings beschreibt die Koinzidenz subduraler Hämatome, retinaler Blutungen\\u000a und prognostisch ungünstiger, diffuser Hirnschäden durch heftiges Schütteln eines Säuglings. Die klinischen Symptome umfassen\\u000a Irritabilität, Trinkschwierigkeiten, Somnolenz, Apathie, zerebrale Krampfanfälle, Apnoe, Temperaturregulationsstörungen und\\u000a Erbrechen durch Hirndruck. Leichtere Symptome des SBS werden häufig nicht diagnostiziert, die Dunkelziffer ist wahrscheinlich\\u000a viel höher. Die Diagnose des SBS wird durch
W. Reith; T. Rohrer; F. Ahlhelm; P. Papanagiotou
Opinion statement Vascular arterial compression syndromes are uncommon disorders due to dynamic anatomic compression of an artery resulting\\u000a in significant ischemia in the supplied territories with ensuing symptoms. The diagnosis of these disorders requires heightened\\u000a awareness and a high index of suspicion by the clinician. These diagnoses should be particularly suspected in young patients\\u000a with typical symptoms but without underlying cardiovascular
Veerendra Chadachan; Robert T. Eberhardt
... affect internal organs. Sjögren's syndrome is a relatively common disease, although often under-diagnosed. Sjögren's syndrome can occur ... bones? What is an overlapping disease? What are common diseases that overlap with lupus? Is there a time ...
Sjogren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous disorder with typical findings on MRI. We describe the typical MRI and MR Spectroscopy findings in a clinically diagnosed case of Sjogren-Larsson syndrome. PMID:24207035
Srinivasan, G; Ushanandhini, P; Srividya, S; Ramprabhanath, S
Secondary immune thrombocytopenia is a rare paraneoplastic syndrome of lung cancer. We report a case of pulmonary pleomorphic carcinoma with newly diagnosed secondary immune thrombocytopenia. On referral, the patient's complete blood cell count was normal; however, it showed marked thrombocytopenia after 1 month. Blood biochemistry and bone marrow puncture showed normal findings. We speculated that he had immune thrombocytopenia associated with the lung cancer and planned lung resection. Sleeve middle and lower lobectomy was successfully performed with preoperative intravenous immunoglobulin and intraoperative platelet transfusion. His platelet count was restored and maintained a normal level at 8 months after the operation. PMID:24694449
Watanabe, Tatsuaki; Matsumura, Yuji; Minowa, Muneo; Suzuki, Hirotoshi; Notsuda, Hirotsugu; Hara, Yasuka; Kimura, Satoru; Okada, Yoshinori; Kondo, Takashi
The author reports the case of a 46-year old patient diagnosed with idiopathic ventricular fibrillation (Brugada syndrome) further to induction of class Ic antiarrhythmic therapy for the management of paroxystic ventricular fibrillation. It would appear that this diagnosis is increasingly frequent in young patients with Brugada syndrome shown to be minimal or intermittent on electrocardiograms. Atrial arrhythmia was the only rhythmic pathology objectively evidenced in this patient and the author was consequently led to reconsider its prevalence in patients presenting this syndrome both in the literature and according to his personal experience. PMID:15283044
Boveda, S; Combes, N; Albenque, J P; Goutner, C; Androdias-Courselle, C; Belhocine, M; Donzeau, J P
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.
Smith, Desmond J. (Oakland, CA); Rubin, Edward M. (Berkeley, CA)
Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.
Kastrinos, Fay; Syngal, Sapna
Natural rubber latex immunoglobulin E-mediated hypersensitivity is probably one of the most relevant challenges that has been faced in the treatment of allergies during recent years. Additionally, allergen cross-reactivity has arisen as another very important problem, in the difficulty in diagnosing it and in its clinical implications. It is clear that some latex allergens cross-react with plant-derived food allergens, the so-called latex-fruit syndrome, with evident clinical consequences. Although the foods most frequently involved are banana, avocado, kiwi, and chestnut, several others are also implicated. Investigations point to a group of defense-related plant proteins, class I chitinases, which cross-react with a major latex allergen, hevein, as the panallergens responsible for the syndrome. This review focuses on our current understanding of the latex-fruit syndrome. PMID:12542994
Rett syndrome is a neurodevelopmental disorder characterized by autistic behavior as well as cognitive and motor skill loss that occurs early in life and almost exclusively affects females. We studied the neuroradiological findings from MRI, SPECT, and proton magnetic resonance spectroscopy (1H-MRS) in 4 cases of Rett syndrome. Three of the 4 cases were diagnosed as Rett syndrome by gene analysis of MECP2. MRS demonstrated a decrease of N-acetylaspartate (NAA) in all 4 cases of Rett syndrome. In addition, MRI revealed frontal cortical atrophy and SPECT demonstrated low blood flow in the frontal lobe. We speculated that this decrease in NAA reflected neuronal loss, immaturity or hypofunction in these regions. The results of our study were in agreement with the previous studies on Rett syndrome by neuropathological methods. PMID:18634417
Tsuda, Yoshimi; Hashimoto, Toshiaki; Mori, Kenji; Ito, Hiromichi; Nishimura, Mio; Fukumoto, Aya; Kondo, Ikuko
Summary A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.
Arora, S.S.; Plato, B.M.; Sattenberg, R.J.; Downs, R.K.; Remmel, K.S.; Heidenreich, J.O.
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
Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young; Yoo, Han-Wook
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.
Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young
Quadricuspid aortic valves are rare congenital anomalies which can be diagnosed by various imaging modalities. Described is the case of a 77 year old female with a quadricuspid aortic valve diagnosed by cardiac CT.
D'Mello, Nisha; Tandon, Vikas; Chow, Benjamin J. W.
... A A Listen En Español Diagnosing Diabetes and Learning About Prediabetes There are several ways to diagnose ... Diabetes! - 2014-may-bee-well-for-life.html Learn More Make a Healthy Change to Stop Diabetes! ...
Authors inform about the group of 8 patients with abdominal compartment syndrome (ACS) occurred as a compli- cation in large blunt injury of abdominal cavity. To the ACS diagnose, the measurement of intracystic pressure is used routinely, whose values correlate fully with values of intraabdominal pressure (IAP). In case of increasing values of IAP over 25 mm Hg with positive
Leopold Pleva; Jaroslav Mayzlíkb
Background\\/Objectives: In older people, small bowel bacterial overgrowth syndrome may be a common, but under-diagnosed, cause of diarrhoea and nutrient malabsorption. We aim to determine which clinical features and baseline laboratory investigations indicate a high likelihood of small bowel bacterial overgrowth as defined by a positive glucose breath test. Methods: A retrospective analysis of records for all patients referred for
D. A. Elphick; T. S. Chew; S. E. Higham; N. Bird; A. Ahmad; D. S. Sanders
Background Our aim was to assess whether anterograde flow velocities in septal perforating branches could identify an occluded contralateral coronary artery, and to assess the feasibility and accuracy of diagnosing occlusions in the three main coronary arteries by the combined use of several noninvasive parameters indicating collateral flow. Methods A total of 108 patients scheduled for coronary angiography because of chest pain or acute coronary syndromes were studied using transthoracic Doppler echocardiography. Results Anterograde peak diastolic flow velocities (pDV) in septal perforating branches were higher in patients with angiographic occluded contralateral artery compared with corresponding velocities in patients without significant disease in the contralateral artery (0.80?±?0.31 m/sec versus 0.37?±?0.13 m/sec, p?0.001). Receiver operating characteristic curve showed pDV???0.57 m/sec to be the optimal cutoff value to identify occluded contralateral artery, with a sensitivity of 79% and a specificity of 69%. Demonstration of at least one positive parameter (retrograde flow in main coronary arteries, reversed flow in septal perforating and left circumflex marginal branches, pDV???0.57 m/sec, or demonstration of other epicardial or intramyocardial collaterals) indicating collateral flow to an occluded main coronary artery had sensitivity, specificity, positive and negative predictive value of 89%, 94%, 63%, and 99%, respectively, for detection of a coronary occlusion. With this combined use of several parameters, 25 of 28 coronary occlusions were identified. Conclusions By investigating several parameters indicating collateral flow, we were able to identify most of the main coronary occlusions in the patient cohort. Furthermore, our study demonstrated that coronary artery occlusions may result in complex and diverging coronary pathophysiology depending on which coronary artery segment is occluded and the extent of accompanying coronary artery disease. Trial registration ClinicalTrials.gov number NTC00281346.
Objective Diagnoses using imaging-based measures alone offer the hope of improving the accuracy of clinical diagnosis, thereby reducing the costs associated with incorrect treatments. Previous attempts to use brain imaging for diagnosis, however, have had only limited success in diagnosing patients who are independent of the samples used to derive the diagnostic algorithms. We aimed to develop a classification algorithm that can accurately diagnose chronic, well-characterized neuropsychiatric illness in single individuals, given the availability of sufficiently precise delineations of brain regions across several neural systems in anatomical MR images of the brain. Methods We have developed an automated method to diagnose individuals as having one of various neuropsychiatric illnesses using only anatomical MRI scans. The method employs a semi-supervised learning algorithm that discovers natural groupings of brains based on the spatial patterns of variation in the morphology of the cerebral cortex and other brain regions. We used split-half and leave-one-out cross-validation analyses in large MRI datasets to assess the reproducibility and diagnostic accuracy of those groupings. Results In MRI datasets from persons with Attention-Deficit/Hyperactivity Disorder, Schizophrenia, Tourette Syndrome, Bipolar Disorder, or persons at high or low familial risk for Major Depressive Disorder, our method discriminated with high specificity and nearly perfect sensitivity the brains of persons who had one specific neuropsychiatric disorder from the brains of healthy participants and the brains of persons who had a different neuropsychiatric disorder. Conclusions Although the classification algorithm presupposes the availability of precisely delineated brain regions, our findings suggest that patterns of morphological variation across brain surfaces, extracted from MRI scans alone, can successfully diagnose the presence of chronic neuropsychiatric disorders. Extensions of these methods are likely to provide biomarkers that will aid in identifying biological subtypes of those disorders, predicting disease course, and individualizing treatments for a wide range of neuropsychiatric illnesses.
Bansal, Ravi; Staib, Lawrence H.; Laine, Andrew F.; Hao, Xuejun; Xu, Dongrong; Liu, Jun; Weissman, Myrna; Peterson, Bradley S.
Anisakiasis is a parasitic infestation, infrequent in Spain, due to ingestion of raw or underdone by Anisakis larvae. Also it can appear after consumption of smoked, salted or dried salt fish. The disease can show under different clinical forms, depending on the part of the gastrointestinal tract where the larva settles. We report two cases of anisakiasis diagnosed in Valladolid. Both patients were women that had eaten some days before anchovies marinated with vinegar. The diagnosis was made by endoscopic examination and the problem was solved by extraction of the parasite. It worthy to note that both cases appeared in a short time interval, showing perhaps some seasonal character. Finally some hygienic-dietetic measures are proposed for combating the disease. PMID:11218992
del Olmo Martínez, L; González de Canales, P; Sanjosé González, G
In order to obtain more information on the incidence of Guillain-Barré syndrome and recent developments in its prognosis, we analysed the severity and prognosis of Guillain-Barré syndrome in children diagnosed and treated during the years 1980-6 throughout Finland. The criteria for Guillain-Barré syndrome were fulfilled in 14 boys and 13 girls. The mean annual number of cases of Guillain-Barré syndrome
H Rantala; M Uhari; M Niemelä
Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future. PMID:22123469
(Brain) tumors are usually a disorder of aged individuals. If a brain tumor occurs in a child, there is a possible genetic susceptibility for this. Such genetic susceptibilities often show other signs and symptoms. Therefore, every child with a brain tumor should be carefully evaluated for the presence of a "tumor predisposition syndrome." Here, we provide an overview of the various central nervous system tumors that occur in children with syndromes and of the various syndromes that occur in children with brain tumor. Our aim is to facilitate recognition of syndromes in children with a brain tumor and early diagnosis of brain tumors in children with syndromes. Diagnosing tumor predisposition syndromes in children may have important consequences for prognosis, treatment, and screening for subsequent malignancies and nontumor manifestations. We discuss pitfalls in clinical and molecular diagnoses, and the consequences of diagnosing a hereditary disorder for family members. Our improved knowledge of cancer etiology is increasingly translated into management strategies in syndromes in general and will likely lead in the near future to personalized therapeutic approaches for tumor predisposition syndromes. PMID:24535705
Bleeker, Fonnet E; Hopman, Saskia M J; Merks, Johannes H M; Aalfs, Cora M; Hennekam, Raoul C M
... Duane syndrome? Duane syndrome (DS) is a rare, congenital (present from birth) eye movement disorder. Most patients ... or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome. In ...
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.
Fregoli syndrome is the delusional belief that one or more familiar persons, usually persecutors following the patient, repeatedly change their appearance. This syndrome has often been discussed as a variant of the Capgras syndrome in the literature, but these two syndromes have different phenomenological structures and age and sex distributions. The author presents a review of 34 cases of Fregoli syndrome in the English and French language literature, discussing the syndrome's definition, aetiology and course. It is suggested that although an organic substrate may be found in some cases, it is the dominant psychotic theme which determines the content of the syndrome. PMID:7893241
We report a case of a 26 year old woman with rash, lymphadenopathy, liver enzyme abnormalities and spiking fever. She was diagnosed with drug-induced hypersensitivity syndrome (DHS) to lamotrigine. Spiking fever in relation to drug-induced hypersensitivity syndrome has not earlier been described in adults. Spiking fever is an important symptom of the wide spectrum of disease presentation. The syndrome is commonly referred to as either Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) or DHS. In accord with previous authors we see both syndromes as two ends of a spectrum, with a wide range of symptoms and presentations. Therefore we plea for unity in nomenclature.
Bakker, Christiaan V; Hegt, Vincent Noordhoek; Praag, Marinus C G Van
Background: The DSM-5 has been under revision since 1999 and is scheduled for publication in 2013. This article will review the major proposed modifications of the Paraphilias. Method: The information reviewed was obtained from PubMed, PsychInfo, the DSM-5.org website and other sources and reviewed. Results: Pedohebephilia, Hypersexual Disorder and Paraphilic Coercive Disorder are new proposed diagnoses. Paraphilias have been assigned their own chapter in DSM- 5 and a distinction has been made between Paraphilias and Paraphilic Disorders. Victim numbers have been included in diagnosis of paraphilias that involve victims and remission and severity measures have been added to all paraphilias. Transvestic Disorder can apply to males or females, Fetishistic Disorder now includes partialism, and Sexual Masochism Disorder has Asphyxiophilia as a specifier. Limitations: This study is based on a literature review and influenced by the knowledge and biases of the authors. Conclusions: The Paraphilic Disorders Section of the DSM-5 represents a significant departure from DSMIV-TR. PMID:23585461
Krueger, Richard B; Kaplan, Meg S
Early identification of acute mesenteric ischemia (AMI) is challenging. The wide variability in clinical presentation challenges providers to make an early accurate diagnosis. Despite major diagnostic and treatment advances over the past decades, mortality remains high. Arterial embolus and superior mesenteric artery thrombosis are common causes of AMI. Non-occlusive causes are less common, but vasculitis may be important, especially in younger people. Because of the unclear clinical presentation and non-specific laboratory findings, low clinical suspicion may lead to loss of valuable time. During this diagnostic delay, progression of ischemia to transmural bowel infarction with peritonitis and septicemia may further worsen patient outcomes. Several diagnostic modalities are used to assess possible AMI. Multi-detector row computed tomographic angiography is the current gold standard. Although computed tomographic angiography leads to an accurate diagnosis in many cases, early detection is a persistent problem. Because early diagnosis is vital to commence treatment, new diagnostic strategies are needed. A non-invasive simple biochemical test would be ideal to increase clinical suspicion of AMI and would improve patient selection for radiographic evaluation. Thus, AMI could be diagnosed earlier with follow-up computed tomographic angiography or high spatial magnetic resonance imaging. Experimental in vitro and in vivo studies show promise for alpha glutathione S transferase and intestinal fatty acid binding protein as markers for AMI. Future research must confirm the clinical utility of these biochemical markers in the diagnosis of mesenteric ischemia.
van den Heijkant, Teun C; Aerts, Bart AC; Teijink, Joep A; Buurman, Wim A; Luyer, Misha DP
Background DiGeorge syndrome may manifest as severe immunodeficiency diagnosed at infancy. The diagnosis of primary immunodeficiency is based on characteristic clinical features, immunophenotyping by flow cytometry, molecular diagnostics and functional lymphocyte evaluation. At autopsy, gross evaluation, conventional histology and immunohistochemistry may be useful for the diagnosis of primary immunodeficiency. This case report illustrates the application of autopsy and immunohistochemistry in the diagnosis of DiGeorge syndrome. Case presentation A four-month-old African female infant died while undergoing treatment at Kenyatta National Hospital, a Referral and Teaching Hospital in Nairobi, Kenya. She presented with a month’s history of recurrent respiratory infections, a subsequent decline in the level of consciousness and succumbed to her illness within four days. Her two older siblings died following similar circumstances at ages 3 and 5 months respectively. Autopsy revealed thymic aplasia, bronchopneumonia and invasive brain infection by Aspergillus species. Microbial cultures of cerebrospinal fluid, jejunal contents, spleen and lung tissue revealed multi drug resistant Klebsiella spp, Pseudomonas spp, Serratia spp and Escherichia coli. Immunohistochemistry of splenic tissue obtained from autopsy confirmed reduction of T lymphocytes. Conclusion Use of immunohistochemistry on histological sections of tissues derived from autopsy is a useful adjunct for post mortem diagnosis of DiGeorge syndrome.
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.
Kolk, Arend H. J.; Dang, Ngoc A.; Kuijper, Sjoukje; Gibson, Tim; Anthony, Richard; Claassens, Mareli M.; Kaal, Erwin; Janssen, Hans-Gerd
Rashes are common in the pediatric population yet can be quite problematic for nurse practitioners to diagnose. A thorough history and physical examination, along with some simple procedures, will aid in identifying these skin conditions. Four cases are presented, which may initially prove challenging to diagnose, and symptoms are categorically examined to arrive at the accurate diagnoses. Treatment guidelines, options, and the role of parental education and involvement also are discussed. PMID:17907732
Popovich, Debbie; McAlhany, Allison
... individuals are likely never diagnosed. What are the genetic changes related to 1p36 deletion syndrome? 1p36 deletion ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
A 65 year old male diagnosed as multiple myeloma was started on bortezomib developed tumor lysis syndrome. Bortezomib induced tumor lysis is rare and suitable precautions should be considered in these patients.
Dhanraj, K. M.; Biswajit, Dubashi
Physical features were studied in a series of 56 Chinese children with Down's syndrome, varying in age from newborns to 19 years. All clinical diagnoses were confirmed cytogenetically. Most previously described stigmata were found to be of importance in t...
I. Emanuel, S. W. Huang, E. K. Yeh
Background. Restless Legs Syndrome (RLS) is a commonly under diagnosed organic cause of insomnia. Prevalence ranges from 4% to 16%. Thirty- five percent of US adults report insomnia annually. There is evidence that insomnia leads to psychic distress which...
Restless Legs Syndrome (RLS) is a commonly under diagnosed organi cause of insomnia. There is evidence that insomnia leads to psychic distress which impacts health care utilization. Purpose: To examine a proposed model which links RLS to insomnia, and ins...
C. C. Bourguet
Five boys who had Noonan's syndrome and lymphatic abnormalities are reported. The youngest boy had clinical lymphoedema and the other four showed dermal backflow after interdigital injection of Patent Blue indicating impairment of flow along the superficial lymphatics. One boy had severe bilateral chylothorax. The lymphographic findings in four of these boys are reported. Patients with the Noonan syndrome frequently have oedema of the hands and feet at birth, which decreases during the first years of life . It has been demonstrated by lymphography that similar peripheral oedema in patients with the Turner's syndrome is due to lymphatic hypoplasia [1, 3]. We report certain lymphatic abnormalities diagnosed by lymphography in four out of five patients with Noonan's syndrome. PMID:673526
Lanning, P; Similä, S; Suramo, I; Paavilainen, T
Newly diagnosed follicular lymphoma is relatively common and can be effectively treated with several differing approaches. Although the disease is often considered incurable, it is highly responsive to therapy when indicated. This review discusses the indications for treatment, risk stratification systems, treatment options with supporting clinical trial data, and expected therapeutic outcomes in newly diagnosed follicular lymphoma.
Westin, Jason R.; Neelapu, Sattva S.
Fault detection and isolation is a crucial and challenging task in the automatic control of large complex systems. We propose a discrete-event system (DES) approach to the problem of failure diagnosis. We introduce two related notions of diagnosability of DES's in the framework of formal languages and compare diagnosability with the related notions of observability and invertibility. We present a
M. Sampath; R. Sengupta; S. Lafortune; K. Sinnamohideen; D. Teneketzis
Anomalies are unusual and significant changes in a network's traffic levels, which can often span multiple links. Diagnosing anomalies is critical for both network operators and end users. It is a difficult problem because one must extract and interpret anomalous patterns from large amounts of high-dimensional, noisy data.In this paper we propose a general method to diagnose anomalies. This method
Anukool Lakhina; Mark Crovella; Christophe Diot
A case of a 56-years old male with rheumatoid arthritis and unclear tumoral radiological changes in the lungs was described. Since noninvasive diagnostic procedures failed to explain nature of the pulmonary changes, an open pulmonary biopsy was performed. Pathological examination revealed presence of rheumatoid nodules and pneumoconiosis, typical for Caplan's syndrome. In the past, the patient had been working in foundry industry for 16 years and he had been exposed to silica and iron dust. Articular symptoms were revealed prior to finding the lung changes even dust exposure had occurred many years earlier. In spite of the fact that rheumatoid arthritis is a relatively common disease and pneumoconiosis is also not rare entity, the coexistence of both conditions i.e. Caplan's syndrome has been rarely diagnosed and described. PMID:16808317
Zielonka, Tadeusz M; Bare?a, Dagmara; Zukowska, Ma?gorzata; Langfort, Renata; Rudzi?ski, Piotr; Chazan, Ryszarda
The sticky platelets syndrome (SPS) is a procoagulant condition based on either arterial, venous, or capillary thrombi caused by hyperesponsive and hyperaggregable platelets. This is a frequent disease, which often remains clinically inapparent, until stressful events or combination with other factors increase the risk of developing SPS. The condition is due to a congenital platelet defect with autosomal dominant characteristics, leading to the increased platelet aggregability when they are challenged with epinephrine and adenosine diphosphate. Nowadays classification of this disorder is based on platelet reactivity to both ADP and epinephrine (SPS type 1), epinephrine alone (SPS type 2), and ADP alone (SPS type 3). The diagnoses of the syndrome depend on the functional aggregometer assay. This condition should be taken into account whenever a patient with thrombophilia is considered. PMID:23433500
Moncada, Benjamín; Ruíz-Arguelles, Guillermo J; Castillo-Martínez, Claudio
A 63-year-old female presented to our department complaining of epigastric pain, nausea and vomiting. Symptoms started after a significant loss of weight and persisted despite treatment, leading to hospitalization for dehydration and renal failure due to protracted vomiting. During hospitalization, no pathology could be identified and the patient was discharged. Symptoms persisted and she was eventually readmitted. Superior mesenteric artery syndrome was diagnosed based upon clinical suspicion and barium studies. She was subjected to duodenojejunostomy after failure of conservative treatment. Her immediate postoperative course was uneventful and the patient was well during her two-year follow-up. Clinicians should be suspicious of superior mesenteric artery syndrome, albeit rare, and be aware of its treatment, which is either conservative or surgical.
Matheos, Efthimiou; Vasileios, Kouritas; Ioannis, Baloyiannis; Dimitrios, Zacharoulis; Kostas, Hatzitheofilou
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
Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M
Lance-Adams syndrome (LAS) is a rare complication of successful cardiopulmonary resuscitation and is often accompanied by action myoclonus. LAS is seen in patients who have undergone a cardiorespiratory arrest, later regained consciousness, and then developed myoclonus days or weeks after the event. Less than 150 cases of LAS have been reported in the worldwide medical literature. Here, we present a 32-year-old man who suffered from myoclonus after hypoxic brain damage due to hanging himself. This case was diagnosed as Lance-Adams syndrome according to a history of hypoxic brain damage, the clinical features, and the neuroimages such as brain SPECT. Making an early diagnosis and properly managing LAS is positively related to improving the patient's functional outcome. If patients have posthypoxic myoclonus after successful cardiopulmonary resuscitation, we should consider the diagnosis of LAS and initiate a proper rehabilitation program.
Lee, Ha Lim
In this review we summarize a number of cases of Sweet's syndrome (SS) associated with sarcoidosis that have been reported in the English literature. In all of the cases, the two disorders were diagnosed simultaneously. Patients with both disorders were younger and had a higher rate of fever than patients with SS alone. In this group of patients, we found a trend toward less skin involvement of the face and trunk, more involvement of the upper limbs, and more atypical skin lesions, particularly papules. The association of the two disorders seems to be more related to a subset of acute sarcoidosis (Lofgren's syndrome). All of the patients in this group had a benign course and self-limiting disease. Thus, SS in association with sarcoidosis could be considered a favorable prognostic factor. Although SS has a high rate of recurrence, no recurrence occurred in this group of patients during follow-up. PMID:16314234
Saliba, W R; Habib, G S; Elias, M
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.
Fisman, D. N.
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.
Sebastin, Sandeep J
Trichorhinophalangeal syndrome type 1 is an autosomal dominant variety of peripheral dysostosis. I have reviewed nine cases of this syndrome and have described two of these cases. I have also presented an extensive review of the literature. PMID:1925732
Burgess, R C
Tolosa-Hunt syndrome is an idiopathic chronic granulomatous inflammatory process commonly involving the cavernous sinus and the orbit. Symptoms include unilateral eye pain, ophthalmoplegia, headache, and facial pain in the distribution of the upper divisions of the trigeminal nerve and are highly responsive to steroid therapy. Gradenigo syndrome describes extension of a middle ear infection to the petrous apex, with trigeminal pain and ophthalmoplegia, typically responsive to antibiotics and often surgical drainage. We report a case of a 17 year-old girl with apparent Gradenigo syndrome, presenting with unilateral eye pain, abducens palsy, headache, hearing loss and serous otitis media, who was ultimately diagnosed with Tolosa-Hunt syndrome. PMID:23684166
Slattery, Eric; White, Andrew J; Gauthier, Megan; Linscott, Luke; Hirose, Keiko
Secondary Sjögren's syndrome is due to another disease. When it develops in connective tissue diseases, their causative role is unchallenged. In AIDS or hepatitis C, exocrine involvement is virus related. Whether or not it qualifies for Sjögren's syndrome is debated. Amyloidosis and sarcoidosis do not produce direct, autoimmune lesions of the glands, hence their exocrine involvements are considered as differential diagnoses. The most common Sjögren's syndrome is found in rheumatoid arthritis. When it appears, the arthritis has been evolving for years, and has reached its typical, seropositive and erosive stage. Accordingly, dryness is not a major concern and should be sought for by proper questioning, specially on eye dryness. When a secondary Sjögren's syndrome is an early complication of rheumatoid arthritis, it could be confused with a primary syndrome with prominent joint involvement. In systemic lupus erythematosus, secondary Sjögren's syndrome develops rarely in the first years of evolution but later in life, when the patient becomes menopausal. In systemic sclerosis, especially in CREST, secondary syndrome can lead to the discovery of the unsuspected connective tissue disease thanks to mouth dryness. It can reveal primary biliary cirrhosis or auto-immune hepatitis. Often precede a true primary Sjögren dysfunctions of the thyroid. PMID:11252943
Sauvezie, B; Tournadre, A; Chamard, C; Dubost, J J
A four-year follow-up of professional personnel who had been working overseas indicates that the depressive syndrome was the most common diagnosable psychiatric illness in this population. The study also shows that in this content the syndrome had a good prognosis. It therefore seems reasonable not to exclude persons with diagnosable depression from assignment abroad but, rather, to identify the syndrome and recommend necessary treatment. PMID:1124808
King, L J
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…
Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.
In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1–7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to under-stand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is
Edwin W. Naylor; Emanuel Lebenthal
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype
Doron Gothelf; Amos Frisch; Elena Michaelovsky; Abraham Weizman; Robert J. Shprintzen
Patients who develop symptoms of thoracic outlet syndrome (TOS) have a predisposing anatomic abnormality. In most patients\\u000a with TOS, the symptoms are caused by entrapment of the brachial plexus and they do not arise from compression of the subclavian\\u000a artery, as was previously thought. The tests advocated for diagnosing this common syndrome (i.e., evaluating the positional\\u000a compression of the artery
Masataka Abe; Tadashi Shimamura; Jun Nishida; Katsuaki Ichinohe
Objective:Paraneoplastic neurological syndromes (PNS) probably result from an immune reaction against antigens shared by the nervous system and tumour cells. To characterise CSF alterations in these syndromes, we studied a large series of paraneoplastic patients.Methods:Using the PNS European database which includes patients diagnosed with PNS in Europe, we reviewed the clinical data of all patients included between 2000 and 2007
D Psimaras; A F Carpentier; C Rossi
Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.
Shetty, Shishir Ram
Temporomandibular disorders (TMD) diagnoses can be viewed as the most useful clinical summary for classifying subtypes of TMD. The Research Diagnostic Criteria for TMD (RDC/TMD) is the most widely used TMD diagnostic system for conducting clinical research. It has been translated into 18 languages and is used by a consortium of 45 RDC/TMD-based international researchers. While reliability of RDC/TMD signs and symptoms of TMD has been amply reported, the reliability of RDC/TMD diagnoses has not. The aim of the study was to determine the reliability of clinical TMD diagnoses using standardized methods and operational definitions contained in the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Data came from reliability assessment trials conducted at 10 international clinical centers, involving 30 clinical examiners assessing 230 subjects. Intraclass correlation coefficients (ICC) were calculated to characterize the reliability. The reliability of the diagnoses was fair to good. Median ICCs for the diagnoses myofascial pain with and without limited opening were 0.51 and 0.60, respectively. Median ICC for arthralgia was 0.47 and 0.61 for disc displacement with reduction. RDC/TMD diagnoses of disc displacement without reduction, osteoarthritis and osteoarthrosis were not prevalent enough to calculate ICC's, but percent agreement was always >95%. The reliability of diagnostic classification improved when diagnoses were grouped into pain versus non-pain diagnoses (ICC=0.72) and for detecting any diagnosis versus no diagnosis (ICC=0.78). In clinical decision-making and research, arriving at a reliable diagnosis is critical in establishing a clinical condition and a rational approach to treatment. The RDC/TMD demonstrates sufficiently high reliability for the most common TMD diagnoses, supporting its use in clinical research and decision making. PMID:16154702
John, Mike T; Dworkin, Samuel F; Mancl, Lloyd A
This study analyses the clinical, radiological, evolutive, and immunogenetical characteristics of a series of patients diagnosed with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Reviewed were the clinical charts and human leukocyte antigen (HLA) profiles of all patients treated at a single teaching hospital fulfilling the features of this syndrome according to the definition of McCarty. Twelve cases
Theory of mind (ToM) deficits are central to autistic spectrum disorders, including Asperger syndrome. Research in psychotic disorders has developed a cognitive model of paranoid delusions involving abnormal causal attributions for negative events. Possible aetiologies of these include deficits in social reasoning, specifically ToM. The present study investigated this attributional model of paranoia in Asperger syndrome. Participants diagnosed with Asperger
Alison J. Blackshaw; Peter Kinderman; Dougal J. Hare; Chris Hatton
This qualitative study investigated the perceptions of friendship faced by teenagers diagnosed With Asperger syndrome. This research aimed to provide teachers With an insight into the social World of Asperger syndrome from a student perspective. A multiple—case study approach Was used to collect data from 5 secondary school students in Australia. Data Were collected through the use of semistructured intervieWs.
Suzanne Carrington; Elizabeth Templeton; Tracey Papinczak
Asperger's syndrome is a relatively newly diagnosed developmental disorder within the autistic spectrum. Children and adults with Asperger's syndrome have an intellectual ability within the normal range but due to their unusual profile of cognitive, social and emotional abilities are vulnerable to the development of a secondary mood disorder. This paper provides an explanation of the abilities associated with Asperger's
This qualitative study investigated the perceptions of friendship faced by teenagers diagnosed with Asperger syndrome. This research aimed to provide teachers with an insight into the social world of Asperger syndrome from a student perspective. A multiple-case study approach was used to collect data from 5 secondary school students in Australia. Data were collected through the use of semistructured interviews.
Suzanne Carrington; Elizabeth Templeton; Tracey Papinczak
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include
Melanie Ehrlich; Kelly Jackson; Corry Weemaes
In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1\\/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children have been found not to have the expansion
J E Morton; S Bundey; T P Webb; F MacDonald; P M Rindl; S Bullock
Prior to this study, there has been little published material about sexual response in women with scleroderma and Sjogren's syndrome. We therefore conducted an investigation of sexual problems and sexual knowledge in women with scleroderma. Eighty-three women with scleroderma participated in the study. Over 37% of respondents reported that they had been diagnosed with Sjogren's syndrome, and 56.9% of respondents
S. Chris Saad; J. E. Pietrzykowski; Sheila S. Lewis; Arlene M. Stepien; Virginia Anne Latham; Sherry Messick; Shelley L. Ensz; Carol Wetherell; Andrew E. Behrendt
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.
Mahgoub, Linda; Aziz, Khalid; Davies, Dawn; Leonard, Norma
A 7-year-old boy with Goldenhar syndrome was diagnosed to have a posterior cranial fossa dermoid cyst. The presence of such a combination of clinical entities has not been reported earlier. The embryonic dysgenesis causing midline posterior fossa dermoid and other anomalies observed in Goldenhar syndrome occur between the third and fifth week of intrauterine life and are probably interrelated. This
N. Dange; V. Bonde; A. Goel; D. Muzumdar
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…
Boyer, Valerie E.; Fullman, Leah I.; Bruns, Deborah A.
Chest pain and discomfort are regarded as the hallmark symptoms of acute coronary syndrome, and the absence of these symptoms are described as “atypical” presentation. In this case, we aimed to report an acute coronary syndrome–diagnosed patient who was admitted to our emergency service with unilateral earache. PMID:24342866
Ocak, Umut; Av?aro?ullar?, Levent; Kaya, Mehmet Güngör; Özmen, Yavuz; Ta?l?dere, Bahad?r; Güldeste, Erkan Abdullah; Yakar, ?ule
Context: Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s). There is limited information about long-term mortality in this syn- drome because there have been no large cohort studies. Objective: Our objective was to investigate mortality in men with Klinefelter syndrome. Design and Setting: We obtained data about patients diagnosed with Klinefelter syndrome
Anthony J. Swerdlow; Craig D. Higgins; Minouk J. Schoemaker; Alan F. Wright; Patricia A. Jacobs
The piriformis syndrome is a condition allegedly attributable to compression of the sciatic nerve by the piriformis muscle. Recently, magnetic resonance neurography and electrophysiologic study have helped to diagnose piriformis syndrome. High dose radiotherapy could induce acute and delayed muscle damage. We had experienced piriformis syndrome with fatty atrophy of piriformis muscle after radiotherapy for recurrent cervical cancer. PMID:20552082
Jeon, Sang Yoon; Moon, Ho Sik; Han, Yun Jung; Sung, Choon Ho
The piriformis syndrome is a condition allegedly attributable to compression of the sciatic nerve by the piriformis muscle. Recently, magnetic resonance neurography and electrophysiologic study have helped to diagnose piriformis syndrome. High dose radiotherapy could induce acute and delayed muscle damage. We had experienced piriformis syndrome with fatty atrophy of piriformis muscle after radiotherapy for recurrent cervical cancer.
Jeon, Sang Yoon; Moon, Ho Sik; Han, Yun Jung
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.
Advani, Rajiv; Kurz, Kathinka D.; Kurz, Martin W.
Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but treatable disorder. We present clinical and molecular studies on two sisters diagnosed as AME. PMID:23665601
Parvez, Yusuf; Sayed, Ola El
This study focused on identifying the academic characteristics of children and youth Who have Asperger syndrome (AS). Significant numbers of school-age children have AS, yet little is knoWn about the unique educational features of individuals With this pervasive developmental disorder. TWenty-one children and youth With diagnoses of AS Were assessed using the Wechsler Individual Achievement Test (WIAT; Psychological Corp., 1992),
Deborah E. Griswold; Gena P. Barnhill; Brenda Smith Myles; Taku Hagiwara; Richard L. Simpson
A 68-year-old man underwent a left upper lobectomy for squamous cell lung carcinoma. After 15 days, he was readmitted with fever, dyspnea, and a skin rash. Computed tomography showed a pleural effusion, which was drained. He was diagnosed with hemophagocytic syndrome in view of the fever, skin rash, bicytopenia, hypertriglyceridemia, high lactate dehydrogenase, and raised ferritin levels. His clinical condition deteriorated in spite of steroid therapy, and he died on the 23rd postoperative day. PMID:22718729
Jiwnani, Sabita; Karimundackal, George; Kulkarni, Atul; Pramesh, C S
Background: There has been a lot of recent search on consideration of psoriasis as a systemic disease, with researchers being of the view that dermatological manifestations represent only a part of the spectrum. Although, there have been plenty of studies from the west reporting an association of psoriasis with the metabolic syndrome, there are no large-scale Indian studies evaluating Asian patients. The present study is an endeavour in this regard. Aim: To investigate the prevalence of metabolic syndrome in Indian patients with newly diagnosed psoriasis at the onset of the disease. Methods: The study is a prospective clinical case control study, with 100 patients of psoriasis and 100 age-matched healthy controls. 5ml plain venous blood after overnight fasting was obtained by venepuncture. Plasma glucose was tested by glucose oxidase method. Serum cholesterol and triglycerides was estimated by enzymatic method. Metabolic syndrome was diagnosed by the presence of three or more criterion of the National Cholestrol Education Programme’s Adult Panel (ATP). The statistical software SAS 9.2 and SPSS 15.0 was used for the analysis of the data. Results: Metabolic syndrome was diagnosed in 8 out of 100 cases and 9 out of 100 controls (p-value: 0.811). We did not find any association of psoriasis with metabolic syndrome in our study. The age of onset of the disease, the duration of the disease and the severity of the disease activity were also not found to be associated with the likelihood of developing metabolic syndrome. Conclusion: Our study refuted any association of psoriasis with metabolic syndrome at the onset of disease activity in Indian patients. The plenty of reports from west approving such an association can be explained by increased risk factors like smoking, alcohol consumption, obesity and stress levels. Further, most such studies have been conducted with patients on treatment, while ours is the first study on newly diagnosed patients prior to the initiation of any therapy.
M.G., Gopal; Talwar, Ankur; Kumar B.C., Sharath; M., Ramesh; A.S., Nandini; H.B., Meena
Adult onset Still's disease (AOSD) is an inflammatory disease of unknown etiology, characterized by spiking fever, evanescent\\u000a salmon pink maculopapular rash, arthritis, and leukocytosis with neutrophilia. Malignant lymphoma is one of the most important\\u000a differential diagnoses of AOSD. AOSD has been reported as one of paraneoplastic syndromes associated with breast cancer. We\\u000a report a rare case of occult papillary thyroid
Joong Kyong Ahn; Ji-Min Oh; Jaejoon Lee; Sun Wook Kim; Hoon-Suk Cha; Eun-Mi Koh
Horner syndrome can be caused by a variety of etiologies that interrupt the sympathetic innervation of the eye, including but not limited to central mass lesions. Recently, it has been debated whether neuroimaging has a place in the diagnostic algorithm of isolated pediatric Horner syndrome given the low incidence of neuroblastoma. We present a case of a 19-month-old girl with an isolated Horner syndrome, likely caused by a lower cervical syrinx, that was diagnosed by magnetic resonance imaging. PMID:23237755
Moreno, Tomas A; El-Dairi, Mays A; Cabrera, Michelle T
Computational methods can be used to provide a second opinion in medical settings and may improve the sensitivity and specificity of diagnoses. In the current study, evolutionary programming is used to train neural networks and linear discriminant models ...
... mistake that happens during cell division. Symptoms of Neuroblastoma There are no symptoms of neuroblastoma that are ... High blood pressure Rapid heartbeat Persistent diarrhea Diagnosing Neuroblastoma There are many procedures and tests that might ...
A new model for self-diagnosable systems is presented and its properties with respect to fault diagnosis without repair are explored. The system is organized conceptually into diagnostic subsystems whose functionability is determined by a test. Unlike man...
D. P. Siewiorek
This handbook explains the effects of various air pollutants on vegetation and how to diagnose the suspected injuries. It discusses the structure and function of plants in relation to air pollution injury and the different pollutants: photochemical oxidan...
D. R. Hicks
Dynamic N-Modular Redundancy (DNMR), with interstitially placed voters, provides a testing technique with low area overhead and high diagnosability, applicable for fabrication-time and on-line real traffic testing of fault-tolerant processing arrays. Improved diagnosability is obtained not only by increasing the voting level, but also by using different test propagation methods. Also, diagnosis is based on a general fault model, without
A. Guterman; Y. Savaria; M. Dagenais
The lack of creatine in the central nervous system causes a severe but treatable neurological disease. Three inherited defects, AGAT, GAMT, and CrT deficiency, compromising synthesis and transport of creatine have been discovered recently. Together these so-called creatine deficiency syndromes (CDS) might represent the most frequent metabolic disorders with a primarily neurological phenotype. Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder. The two defects in the creatine synthesis, AGAT and GAMT, are autosomal recessive disorders. They can be diagnosed by analysis of the creatine, guanidinoacetate, and creatinine in body fluids. Treatment is available and, especially when introduced in infancy, has a good outcome. The defect of creatine transport, CrT, is an X-linked condition and perhaps the most frequent reasons for X-linked mental retardation. Diagnosis is made by an increased ratio of creatine to creatinine in urine, but successful treatment still needs to be explored. CDS are under-diagnosed because easy to miss in standard diagnostic workup. Because CDS represent a frequent cause of cognitive and neurological impairment that is treatable they warrant consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech. PMID:23622406
A recent necropsy study has shown that 80% of patients with the Wernicke-Korsakoff syndrome were not diagnosed as such during life. Review of the clinical signs of these cases revealed that only 16% had the classical clinical triad and 19% had no documented clinical signs. The incidence of clinical signs in this and other retrospective pathological studies is very different
C G Harper; M Giles; R Finlay-Jones
This is a new case of Susac syndrome in a 27-year-old woman with polymorphic neurological disorders, her brain MRI showed multifocal hyperintense signals on T2-weighted images with possible effects on the corpus callosum. However, visualization of an occlusion in the retinal arterial branch of the right eye and hypoacusia on the right side allowed confirmation of the diagnosis. In this case report, we describe the imaging aspects of Susac syndrome and demonstrate that brain MRI allows the syndrome to be diagnosed at an early stage. PMID:19403172
Le Moigne, F; Lamboley, J-L; Vitry, T; El Chehab, H; Guilloton, L; Drouet, A; Salamand, P; Felten, D
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.
Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C
We report a case of Fisher syndrome accompanied by ocular flutter. A 19-year-old man presented with diplopia and vertigo, associated with preceding symptoms of common cold. Since symmetric weakness of abduction in both eyes, truncal ataxia, diminution of tendon reflexes, and gaze nystagmus were noted, he was diagnosed as having Fisher syndrome. Ocular flutter also was noticed during horizontal gaze. Serum anti-GQ1b antibody and anti-GM1 antibody were detected. He was followed without therapy and the symptoms resolved. The accompanying ocular flutter may suggest that a central nervous system disorder may also be present in Fisher syndrome. PMID:20593660
Nakayasu, Koki; Sakimoto, Tohru; Minami, Masayuki; Shigihara, Syuntaro; Ishikawa, Hiroshi
During the past 5 years an increasing number of patients were diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes were recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.
Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven
During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation. PMID:23278578
Engel, Andrew G; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven
Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited.
Connor, Jean Anne; Thiagarajan, Ravi
Metabolic syndrome is associated with migraine but there is no study comparing the characteristics of migraine with and without metabolic syndrome from Southeast Asia. This study was therefore undertaken to compare the clinical characteristics of migraine in patients with and without metabolic syndrome and insulin resistance. 135 consecutive patients with migraine diagnosed on the basis of International Headache Society criteria were subjected to clinical evaluation as per fixed protocol. Headache severity, frequency and functional disability were recorded. Metabolic syndrome was diagnosed as per National Cholesterol Education Programme: Adult Treatment Panel III and International Diabetic Federation criteria. Insulin resistance was calculated by homeostases model assessment. Their age ranged between 14 and 61 years and 108 were females. Metabolic syndrome was present in 31.9% patients and only 13 were obese. Insulin resistance was present in 11.1%. Metabolic syndrome was correlated with age, gender, number of triggers, years of headache and duration of migraine attacks. Insulin resistance correlated with duration of migraine attacks. From this study, it can be concluded that metabolic syndrome was present in 31.9% of the migraineurs which was mainly in elderly who had longer duration of headache and multiple triggers. PMID:22278639
Bhoi, Sanjeev K; Kalita, Jayantee; Misra, Usha K
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
Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L; Groves, Sarah J; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M; McCurdy, Katherine R; Damin, Michaela K; Spencer, Carolyn T; Toth, Matthew J; Kelley, Richard I; Steward, Colin G
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
Elmeery, A; Lanka, K; Cummings, J
Dysfunction of higher cortical function and neurobehavioral syndromes may be present in up to 87% of stroke patients. These symptoms may occur less often in patients with transient ischemic attacks (36%). Approximately 22% of stroke patients may present only with cognitive and neurobehavioral symptoms without elementary neurological deficits. In this chapter we concentrate on delusions, hallucinations, misidentification syndromes, anosognosia of hemiplegia, aggressive behavior and also extended self syndrome. PMID:22377864
Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien
The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure. PMID:22382233
Akl, Kamal F; Al Momany, Hashem M
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.
Taheri, Diana; Afshar-Moghadam, Noushin; Mahzoni, Parvin; Eftekhari, Amin; Hashemi, Seyed Mozafar; Emami, Mohammad Hasan; Fesharakizadeh, Mehdi; Ghasemi-basir, Hamid Reza
Diabetes is the most common metabolic disorder affecting pregnancy. Its prevalence seems to be growing in parallel with the epidemics of overweight and obesity. Recognizing and treating diabetes or any degree of glucose intolerance in pregnancy results in lowering maternal and fetal complications. These patients present higher risk for excessive weight gain, preeclampsia, cesarean sections, a high risk of developing type 2 diabetes and cardiovascular disease in the future. Infants born to these mothers are at higher risk for macrosomia and birth trauma, and after delivery, these infants have a higher risk of developing hypoglycemia, hypocalcemia, hyperbilirubinemia, respiratory distress syndrome, polycythemia and subsequent obesity and type 2 diabetes. Despite several international workshops and a lot of research there is still no unique approach to diagnose and treat diabetes in pregnancy. Who, when and how to screen and diagnose diabetes in pregnancy has been debated in the literature for so many decades and this debate seems to be endless. We present the evolution that screening and diagnosing diabetes in pregnancy has had over time. Besides many evidence of the benefits these procedures bring, health care providers still often prefer to use alternate criteria for this purpose. The myriad of maternal and fetal complications that could be avoided with an appropriate and simple screening procedure are ignored. Robust clinical trials such as the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study have shown how harmful can even slightly altered blood glucose levels be, but it has been found a resistance in the adoption of the new criteria proposed after this and other trials by many diabetes organizations. These organizations state that these new criteria would increase the incidence of diabetes in pregnancy, would imply in longer term follow-up of these patients and would pose an economic problem; they also state that alerting too many people in order to benefit a relatively few potential diabetics would arise psychologic ill-effects. We think that health care providers should look for an uniformity in the screening and diagnosing diabetes in pregnancy based on evidence based medicine and not on specialists consensus. PMID:23634949
Negrato, Carlos Antonio; Gomes, Marilia Brito
Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226
Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M
Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were used as controls. Thirteen
R A Hague; S Rassam; G Morgan; A J Cant
Major psychiatric disorders have a complex genetic aetiology. The study of psychiatric phenotypes in individuals with malformation syndromes may allow one to search for the genes that confer an increased risk for the same psychiatric disorders in the general population. The present authors report on the psychiatric evaluations of 13 patients with classic or incomplete features of Rubinstein-Taybi syndrome (RTS), a multiple congenital anomaly syndrome mapped to 16p13.3, whose psychiatric diagnoses fell within a consistent spectrum, suggesting a possible relationship between RTS and these psychiatric disorders. The diagnoses clustered into mood disorders and the tic/obsessive compulsive disorder (OCD) spectrum; all tic/OCD diagnoses occurred in patients with classical RTS. It was of interest that neuroleptic-induced movement disorders and neuroleptic malignant syndrome were common. While no conclusions can be drawn about the prevalence of psychiatric disorders in RTS, the pattern of psychiatric diagnoses in these patients appear non-random, and the occurrence and severity of neuroleptic side-effects is striking. Given the suspected relationship of these complications with the serotonergic and dopaminergic systems, the present authors suggest that the gene locus for RTS should be investigated for genes related to the regulation of these neurotransmitters. PMID:9786443
Levitas, A S; Reid, C S
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…
Dykens, Elisabeth M.
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
Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra
The reliability, validity, and clinical utility of the Asperger Syndrome Diagnostic Scale in the diagnosis of pervasive developmental disorders are reviewed. While the measure holds promise as a research tool, there appears little evidence that it can distinguish among the variety of types of pervasive developmental disorders, or diagnose Asperger…
Although the prevalence of Asperger syndrome (AS) is increasing, many children and youth who exhibit characteristics associated with this disability are not diagnosed until their later years. Because early intervention appears to be critical for individuals with AS, it is important that educators, families, and physicians have a comprehensive understanding of this complex exceptionality. This article, in an attempt to
Brenda Smith Myles; Richard L. Simpson
Irritable bowel syndrome (IBS) is the most common disorder diagnosed by gastroenterologists and one of the more common ones encountered in general practice. The overall prevalence rate is similar (approximately 10%) in most industrialized countries; the illness has a large economic impact on health care use and indirect costs, chiefly through absenteeism. IBS is a biopsychosocial disorder in which 3
We investigated an alleged association between ganglioside therapy and the risk of developing the Guillain-Barré syndrome (GBS) in a historical cohort study. Using official medical records of the Local Health Unit No. 31 of Ferrara Province, northern Italy, we linked data on sales of gangliosides with information regarding hospital admissions and discharge diagnoses between January 1, 1988, and May 31,
Enrico Granieri; Ilaria Casetta; Vittorio Govoni; Maria R. Tola; Ezio Paolino; Walter A. Rocca
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…
Gandy-Goldston, Terrie M.
Megaloblastic anemia (MA) due to vitamin B12 deficiency is a reversible form of ineffective hematopoiesis. Myelodysplastic syndrome (MDS) is an acquired, irreversible disorder of ineffective hematopoiesis, characterized by stem cell dysfunction as a consequence of DNA damage manifested in part by karyotype anomalies. Importantly, MA and MDS are generally considered mutually exclusive diagnoses. We report the case of a 73-year-old
Joseph J. Drabick; Brad J. Davis; John C. Byrd
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…
Legg, Carol; Penn, Claire; Temlett, James; Sonnenberg, Beulah
A woman contracted chickenpox in the 12th week of gestation. Her general practitioner and later the consultant obstetrician warned her about the small risk of giving birth to a disabled child. She decided to continue the pregnancy without undergoing invasive tests to diagnose fetal intrauterine infection. Symptoms of congenital varicella syndrome (CVS) were detected by ultrasound in the 29th and
Cinzia Auriti; Fiammetta Piersigilli; Marco Rossi De Gasperis; Giulio Seganti
Angiosarcomas are exceedingly rare tumors that are often difficult to diagnose. Exceptionally unusual is the presentation of these tumors with Kasabach-Merritt Syndrome, a curious form of intratumoral coagulation that can be impossible to distinguish from intravascular coagulation, which is more common. Instant recognition of this clinical association can help making a prompt diagnosis and timely initiation of therapy.
Massarweh, Suleiman; Munis, Aun; Karabakhtsian, Rouzan; Romond, Edward; Moss, Jessica
A 20 year old male patient presented with lack of sexual development. On examination he was eunuchoidal and hypogonadal, and olfactory function testing showed he was anosmic. Biochemical investigations proved he was hypogonadotrophic. Kallmann's syndrome was therefore diagnosed. His appearance was very different from his alleged identical twin who had undergone a normal puberty and had normal plasma testosterone and
L J Hipkin; I F Casson; J C Davis
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.
Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra
We herein report the case of a 73-year-old woman who developed skin and nail disorders 2 months before her digestive symptoms started, which lead to the diagnosis of gastric adenocarcinoma. The lesions were diagnosed as Bazex syndrome, usually seen in squamous cell carcinoma. Under systemic chemotherapy, the cutaneous signs improved for some months before worsening when the disease progressed.
Robert, Maxime; Gilabert, Marine; Rahal, Soraya; Ries, Pauline; Raoul, Jean-Luc
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.
Lo Muzio, Lorenzo
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.
Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.
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.
Daigle, Matthew J.; Bregon, Anibal; Biswas, Gautam; Koutsoukos, Xenofon; Pulido, Belarmino
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
Reiersøl, Odd; Skeid, Svein
The descriptive study, with quantitative approach, that has had as objective to do the characterization of ill elderly at home attended by the ESF teams of the Satellite's District in Teresina - PI and to collect Nursing Diagnoses and it respective interventions. This descriptive study was constituted by 50 seniors interviewed at home, the results showed that most of the women in age between of 60 and 79 years were ill at home for one or five years at least. There were eight Nursing Diagnoses (ND) prevalent, in which 98% of the seniors were identified with the ND - Inadequate Control of Therapeutic Regime, and in 72% the deambulation was prejudiced with mobility's limitation and, for all diagnoses were proposed nursing interventions objectifying the conquest of autonomy and independence of these seniors. PMID:18797782
Figueiredo, Maria do Livramento Fortes; Luz, Maria Helena Barros Araújo; de Brito, Cleidiane Maria Sales; Sousa, Suéli Nolêto Silva; da Silva, Dâmaris Rebeca Soares
This is a descriptive study with a qualitative approach that has as objective to identify the nursing diagnoses of diabetic patients using insulin, having as inquiry method the study of multiple cases. The data were obtained by the researcher by means of physical examination and the technique of interview directed in the instrument based on the Orem's Self-Care Theory. After data collection, the diagnostic indentification was proceeded from the nominated nursing diagnoses of NANDA Taxonomy II, using Risner's reasoning diagnostic process. The identified nursing diagnoses with a higher frequency than 50% were six: impaired skin integrity (100%), risk for infection (100%), behavior of health search (57,2%), disturbed sleep (57,2%), chronic pain (57,2%) and risk for peripheral neurovascular dysfunction (57,2%). The application of the nursing process based in Orem and the importance of the identified diagnostic for clients nursing care were evidenced. PMID:19142391
Becker, Tânia Alves Canata; Teixeira, Carla Regina de Souza; Zanetti, Maria Lúcia
In evaluating the diagnosis of dislocation of the hip in childhood by orthopedists in Oregon in 1985, we identified 36 dislocations in 32 patients, an incidence of 0.9 per 1,000 live births. In 12 patients, 12 dislocations (33%) were diagnosed after the neonatal period, 5 of which were diagnosed at walking age. Of the 12 children with a late diagnosis, 10 had normal hips when examined in the neonatal period. Neonatal screening will not detect all cases of congenitally dislocated hip. If dislocation of the hip in childhood is to be diagnosed in a timely manner, it is essential that children's hips be examined at the time of routine well-baby evaluations until a normal gait has been established. PMID:2763539
Hazel, J R; Beals, R K
Steinert's myotonic dystrophy was diagnosed in a 10-year-old girl with Asperger syndrome. This form of myotonic dystrophy is one of a growing list of genetic diseases that can be diagnosed by analysis of a gene with trinucleotide repeats that may expand. The patient has the largest such expansion known within her pedigree. She has many of the psychological deficits that have been reported in adult-onset myotonic dystrophy. This is the first known report of an association of this disorder with Asperger syndrome. Recently Moebius syndrome has been found in association with disorders of the autistic spectrum; physicians practicing developmental medicine should now also consider Steinert's myotonic dystrophy when evaluating children with facial diplegia. PMID:8810716
Blondis, T A; Cook, E; Koza-Taylor, P; Finn, T
The authors examined correlates of HIV seropositivity in a sample of dually diagnosed inpatients. The subjects were 147 consecutively admitted patients to a specialized dual-diagnosis unit in a municipal hospital who were given a structured interview and HIV testing. The HIV seroprevalence was 19%, with women having a nearly fourfold increased risk of being HIV seropositive, as compared with men. Cocaine as drug of choice was also highly significant as a risk factor for HIV infection, independent of gender. This finding suggests that targeted prevention and education programs need to be developed for the dually diagnosed patient. PMID:9522009
Krakow, D S; Galanter, M; Dermatis, H; Westreich, L M
Primary effusion lymphoma (PEL), formerly known as body cavity–based lymphoma, is a high-grade B-cell non-Hodgkin's lymphoma associated with Kaposi's sarcoma and human herpesvirus 8 infection. It usually affects serous body cavities and results in recurrent lymphomatous effusions. PEL is often diagnosed in patients with HIV infection and carries a poor prognosis, with median survival near 6 months. We describe a patient who presented with symptomatic pericardial effusion, secondary to newly diagnosed PEL, and no prior history of HIV infection.
Schussler, Jeffrey M.; Shiller, S. Michelle; Sloan, Louis M.; Mennel, Robert G.
Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus.
Rodrigues Junior, Ismael Alves; Gresta, Leticia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintao
Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922
Rodrigues, Ismael Alves; Gresta, Letícia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintão
Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found. PMID:483956
Butenschön, H; Burg, G; Lentze, M
Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.
Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.
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.??
O'Callaghan, F; Clarke, A; Joffe, H; Keeton, B; Martin, R; Salmon, A; Thomas, R; Osborne, J
Although the presence of psychological distress has been documented in women with breast cancer, previous studies have not established rates of DSM-IV diagnoses in this population, nor have prior investigations compared the utility of diagnostic interviewing vs. symptom checklists to assess distress. DSM-IV diagnoses of anxiety disorders and major depression, symptoms of anxiety and depression, and quality of life were
Barbara M. Dausch; Bruce E. Compas; Ellen Beckjord; Linda Luecken; Cay Anderson-Hanley; Marne Sherman; Cyndi Grossman
Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.
Derderian, Christopher; Seaward, James
Conversion Disorder (CD) is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly) diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences - conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients' trust in doctors, and can create such defensiveness that it may interfere with (especially) patients' abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely) event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care. PMID:24808723
Conversion Disorder (CD) is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly) diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially) patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely) event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care.
The most frequent form of diabetes in the childhood is type 1 diabetes. Moreover, the rare forms of diabetes have been also identified in children. Besides of neonatal diabetes caused by the mutations in KCNJ11, SUR1 and GCK genes, other forms of monogenic diabetes are associated with different chronic disorders. These rare forms of syndromic diabetes are related to mutations in genes which lead to Wolfram syndrome, Alström syndrome, Wolcott-Rallison syndrome or Roger's/TRMA syndrome. In this paper we discuss the clinical features of rare syndromic forms of monogenic diabetes, which gave suggestions on pathogenic mechanism of the diagnosed diabetes in childhood. This may be helpful for appropriate classification of the epidemiological, clinical and genetic data. It may be useful in the future to the form of the Polish National Survey of rare syndromic forms of monogenic diabetes in childhood. PMID:18577346
Zmys?owska, Agnieszka; Bodalski, Jerzy; M?ynarski, Wojciech
... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic ... cardiofaciocutaneous syndrome. Read more about Costello syndrome and Noonan syndrome . How common is cardiofaciocutaneous syndrome? Cardiofaciocutaneous syndrome is ...
Patient: Male, 0 Final Diagnosis: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Congenital defects/diseases Background: Pallister-Killian syndrome (PKS) is a rare, sporadic, polydysmorphic condition that often has highly distinctive features. The clinical features are highly variable, ranging from mild to severe intellectual disability and birth defects. We here report the first case of PKS diagnosed at our institution in a patient in the second trimester of pregnancy. Case Report: A pregnant 43-year-old woman presented for genetic counseling secondary to advanced maternal age and an increased risk for Down syndrome. Ultrasound showed increased fetal nuchal fold thickness, short limbs, polyhydramnios, and a small stomach. The ultrasound evaluation was compromised due to the patient’s body habitus. The patient subsequently underwent amniocentesis and the karyotype revealed the presence of an isochromosome in the short arm of chromosome 12 consistent with the diagnosis of Pallister-Killian syndrome. Postnatally, the infant showed frontal bossing, a flattened nasal bridge, mid-facial hypoplasia, low-set ears, a right upper deciduous tooth, grooved palate, nuchal fold thickening, widely spaced nipples, left ulnar polydactyly, simian creases, flexion contractures of the right middle finger, shortened upper extremities, undescended left intraabdominal testis, and right inguinal testis. Conclusions: The occurrence of PKS is sporadic in nature, but prenatal diagnosis is possible.
Srinivasan, Aarthi; Wright, Debra
Background: The key role of prevention and treatment of mental disorders in the prevention of suicide is widely acknowledged. Which specific disorders need to be targeted remains to be conclusively demonstrated. Aims: To re-examine the presence of psychiatric diagnosis in cases of completed suicide from a global perspective. Method: A review of studies reporting diagnoses of mental disorders in cases
José Manoel Bertolote; Alexandra Fleischmann; Diego De Leo; Danuta Wasserman
An immunologically mediated lung disease, allergic bronchopulmonary aspergillosis (ABPA) is predominantly found in patients with asthma and cystic fibrosis (CF). This indolent entity is diagnosed by a set of well established criteria that have unfolded over time. Other than demonstration of central bronchiectasis (CB) with normal tapering bronchi, which is regarded as a key component for the diagnosis of ABPA
Objective: To examine the interobserver agreement of commonly used clinical tests and diagnoses in patients with shoulder pain, and the accuracy of these tests and ultrasonographic findings in comparison with arthroscopic findings.Methods: Eighty six patients with longstanding shoulder joint pain were “blindly” examined by two trained doctors using several clinical tests. In all patients an ultrasonographic examination was performed, and
J Nørregaard; M R Krogsgaard; T Lorenzen; E M Jensen
We described a patient with secondary Sjögren's syndrome suspected showing multiple cranial neuropathies at the different time. A 68-year old woman has been treated as rheumatoid arthritis since 1963. In 2001, she was also diagnosed with Sjögren's syndrome suspected. Afterward, abducent and trigeminal neuropathies and uveites occurred. This case is important to insight into the cranial neuropathy with Sjögren's syndrome. PMID:23124085
Nanke, Yuki; Kobashigawa, Tsuyoshi; Yago, Toru; Yamanaka, Hisashi; Kotake, Shigeru
People with flu-like symptoms who seek treatment at a medical clinic or hospital often must wait several hours before being examined, possibly exposing many people to an infectious virus. If a patient appears to need more than the routine fluids-and-rest prescription, effective diagnosis requires tests that must be sent to a laboratory. Hours or days may pass before results are available to the doctor, who in the meantime must make an educated guess about the patient's illness. The lengthy diagnostic process places a heavy burden on medical laboratories and can result in improper use of antibiotics or a costly hospital stay. A faster testing method may soon be available. An assay developed by a team of Livermore scientists can diagnose influenza and other respiratory viruses in about two hours once a sample has been taken. Unlike other systems that operate this quickly, the new device, called FluIDx (and pronounced ''fluidics''), can differentiate five types of respiratory viruses, including influenza. FluIDx can analyze samples at the point of patient care--in hospital emergency departments and clinics--allowing medical providers to quickly determine how best to treat a patient, saving time and potentially thousands of dollars per patient. The FluIDx project, which is led by Livermore chemist Mary McBride of the Physics and Advanced Technologies Directorate, received funding from the National Institute of Allergy and Infectious Diseases and the Laboratory Directed Research and Development (LDRD) Program. To test the system and make it as useful as possible, the team worked closely with the Emergency Department staff at the University of California (UC) at Davis Medical Center in Sacramento. Flu kills more than 35,000 people every year in the US. The 2003 outbreak of severe acute respiratory syndrome and the ongoing concern about a possible bird flu pandemic show the need for a fast, reliable test that can differentiate seasonal flu from a potentially pandemic influenza. Such a test should also discriminate influenza from pathogens that cause illnesses with flu-like symptoms. When a precise diagnosis is required to treat an adult patient with serious respiratory symptoms, sample cells are usually obtained with a nasal or throat swab and analyzed with one of several laboratory methods. The gold standard test is viral culturing, a highly sensitive method that can identify the specific strain of virus. However, viral culturing is a labor-intensive process and requires 3-10 days to produce results, too long for early intervention. Enzyme and optical immunoassays offer results in 30 minutes, but these methods are less sensitive than viral culturing so they can produce false positives or negatives. They also cannot distinguish the type of virus found. Direct immunofluorescence antibody (DFA) staining is as sensitive as viral culturing. It also can detect multiple respiratory pathogens simultaneously by a process known as multiplexing. However, DFA staining requires expensive equipment, a skilled microscopist, and samples with enough target cells for testing. In addition, the results are ultimately subjective. Another method, called reverse transcriptase-polymerase chain reaction assay, offers sensitivity and specificity comparable to viral culturing and DFA staining. It also produces results in two hours and can rapidly test a large number of samples. The drawback with these tests, however, is that they must be performed in a laboratory. None of them can be used where they are needed most: in the clinic or emergency department where patients are being treated. Livermore's FluIDx diagnostic system, with its instrumentation and multiplexed assays, is designed specifically for point-of-care diagnosis. The fast, easy-to-use system is based on the Autonomous Pathogen Detection System, a homeland security technology developed by LLNL. This R&D 100 Award-winning technology constantly monitors the air to detect airborne bioterrorism agents, such as anthrax. FluIDx is an integrated system designed to perform highly multiplexed poly
Hazi, A U
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis. The trends in incidence and prevalence of Rett syndrome in Australia were examined; the cumulative risk of a female being diagnosed determined; and the impact of changes to diagnostic criteria and availability of genetic testing on these frequencies investigated. The population-based Australian Rett Syndrome Database was used to identify a total of 349 verified Rett syndrome females born 1976-2006 and diagnosed 1982-2008. The proportion of female cases born and diagnosed per year and the cumulative risk of a diagnosis were determined. The median age of Rett syndrome diagnosis decreased from 4.5 years if diagnosed before 2000 to 3.5 years if diagnosed after 1999. The cumulative risk of diagnosis had almost doubled by 32 y of age [1/8,905 or 11.23 per 100,000 person-years (95% CI, 10.03–12.45)] in comparison with 5 y of age [1/15,361 or 6.51 per 100,000 person-years (95% CI, 5.65–7.39)]. Earlier age of diagnosis may result in families experiencing less stress and emotional strain compared to those with delayed diagnosis.
Fehr, Stephanie; Bebbington, Ami; Nassar, Natasha; Downs, Jenny; Ronen, Gabriel M; de Klerk, Nicholas; Leonard, Helen
Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.
Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid
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
Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita
Birt-Hogg-Dubé (BHD) syndrome is an inherited disease characterized by recurrent pneumothorax. We report some unusual clinicopathologic features of the lung in a Japanese family with this syndrome presenting with recurrent pneumothorax. Radiologic imaging did not show detectable lesions; however, at video-assisted thoracic surgery (VATS), multiple diffusely distributed microcysts were visible on the pleura. This characteristic morphologic feature was common to all affected family members. The proband underwent genetic testing and BHD syndrome was diagnosed. Although many patients with BHD syndrome with pneumothorax show obvious pulmonary cysts, this case suggests that radiologically indeterminate cysts have the potential to cause pneumothorax. PMID:24484808
Onuki, Takuya; Goto, Yukinobu; Kuramochi, Masami; Inagaki, Masaharu; Bhunchet, Ekapot; Suzuki, Keiko; Tanaka, Reiko; Furuya, Mitsuko
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.
Mubarak, S. J.; Hargens, A. R.; Karkal, S. S.
Refeeding syndrome is characterized by severe hypophosphatemia occurring in patients given enteral or parenteral nutrition after severe weight loss. There are few veterinary reports that describe this syndrome but it is well documented in human medicine. This report describes a case of a domestic shorthair cat diagnosed with hepatic lipidosis following a 4-week history of decreased appetite and weight loss and in whom refeeding syndrome was documented after initiation of enteral nutrition. Clinical findings, blood work abnormalities and disease progression in this patient are described from the time of diagnosis through to recovery. A review of the current literature pertinent to this clinical syndrome is included. PMID:21719333
Brenner, Karen; KuKanich, Kate S; Smee, Nicole M
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, initially recognized as a serious form of cutaneous drug adverse reaction, is now viewed as a drug-related syndrome that can cause life-threatening organ dysfunctions. Characteristic features include a long time interval from first drug exposure to symptom onset and a prolonged course, often with flares, even after discontinuation of the causal drug. The pathophysiology of DRESS syndrome remains incompletely understood but involves reactivation of herpes viruses (HHV-6, HHV-7, EBV, and CMV), against which the body mounts a strong immune response. The culprit drugs may not only affect epigenetic control mechanisms, thereby promoting viral reactivation, but also induce an antiviral T-cell response by interacting with the major histocompatibility complex receptor in individuals with genetic susceptibility factors. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a potentially life-threatening form of cutaneous drug adverse reaction. The severity of this syndrome is related to the systemic manifestations, which can result in multiorgan failure. DRESS syndrome is characterized by highly specific features, most notably regarding the timing of the manifestations. New insights into the underlying pathophysiological mechanisms indicate a role for immunogenetic susceptibility factors and for reactivation of human herpes viruses (HHVs), chiefly HHV-6. We report a typical case of DRESS syndrome and discuss recent data about this condition. PMID:23816504
Descamps, Vincent; Ranger-Rogez, Sylvie
Chest pain presents a diagnostic challenge in outpatient family medicine. Noncardiac causes are common, but it is important not to overlook serious conditions such as an acute coronary syndrome, pulmonary embolism, or pneu- monia. In addition to a thorough history and physical examination, most patients should have a chest radiograph and an electrocardiogram. Patients with chest pain that is predictably
WILLIAM E. CAYLEY
A number of asylum-seeking children in Sweden have developed a pervasive loss of function associated with profound social withdrawal. The syndrome is called Depressive Devitalization. The aim of this study was to identify possible aetiological factors, outline the similarities between Depressive Devitalization and Pervasive Refusal Syndrome and to explore possible differential diagnoses. The research was based on a literature study. Databases searched included PsychINFO, Medline, Pub med, COCHRANE and PILOTS. Possible aetiological factors identified included: Children having a perfectionist, ambitious and conscientious premorbid personality, psychiatric problems of children and parents, and traumatic events. Symptoms between the two syndromes differed only in pattern of refusal and neurological symptoms. None of the differential diagnoses explored could account for all features. The individual impact of aetiological factors requires further investigation. Children might previously have been diagnosed with a number of differential diagnoses, though none of these accounts for all symptoms seen in the syndromes. Depressive Devitalization and Pervasive Refusal Syndrome are suggested to be subgroups of the same refusal syndrome. PMID:17080781
Von Folsach, Liv Lyngå; Montgomery, Edith
Metabolic syndrome is not a disease per se, but is a term that highlights traits that may have an increased risk of disease, approximately 2-fold for cardiovascular disease and 5-fold or more for type 2 diabetes mellitus. Obesity and insulin resistance are believed to be at the core of most cases of metabolic syndrome, although further research is required to truly understand the pathophysiology behind the syndrome and the gene-environment interactions that increase susceptibility. The mainstay of treatment remains lifestyle changes with exercise and diet to induce weight loss and pharmacologic intervention to treat atherogenic dyslipidemia, hypertension, and hyperglycemia. PMID:24582089
Samson, Susan L; Garber, Alan J
Encephalotrigeminal angiomatosis (Sturge–Weber syndrome) is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face, and sometimes the skull, jaws, and oral soft tissues. A case of portwine stain with intraoral gingival hemangioma is presented. There were no other systemic manifestations. Patient reported with a complaint of localized tumor-like swelling in gums. Based on the presence of sharply demarcated vascular lesion unilaterally on the face and with ipsilateral intraoral vascular hyperplasia in the lip and gingiva, a variant of encephalotrigeminal angiomatosis was diagnosed. Ultrasound Doppler flowmetry was used to determine the blood flow. Dental management included plaque control instructions, scaling, root planning, and excision of the lesion done under general anesthesia. Close follow-up and meticulous plaque control have kept the oral condition under fairly good control.
Manivannan, Natarajan; Gokulanathan, Subramanium; Ahathya, Ramakrishnan Swamy; Gubernath; Daniel, Rajkumar; Shanmugasundaram
Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.
Sur, Amitava; Sardar, Syamal Kumar; Paria, Anshuman
Importance of the field Treatment options for amyloidosis and POEMS have rapidly increased in the past years, but many patients are diagnosed late in the disease course and do not receive state of the art therapy Areas covered in this review Stem cell transplantation and novel agents have widened the chemotherapy alternatives available in these disorders and combinations of novel agents with high dose therapy further improve treatment opotions. This review covers the main areas of debate in the optimal treatment amyloidosis and POEMS patients, focusing on the implications for everyday clinical practice and management strategies published in the past 36 months. What the reader will gain Insights into treatment strategies are provided in the review. Keys to early recognition of the syndromes are reviewed Take home message With early diagnosis most patients are therapy candidates. New agents and new application of stem cell transplantation have dramatically improved outcomes for these previously uniformly poor prognosis disorders.
Chee, Cheng E. M.D.; Dispenzieri, Angela M.D.; Gertz, Morie A. M.D
This study investigated the relationship between repetitive behaviors and sensory behavior to the parenting stress of mothers of boys with fragile X syndrome and mothers of boys with autism. Participants consisted of two groups: 51 mothers with boys diagnosed with fragile X syndrome (M = 71.3, SD = 56.5) and 30 mothers with boys diagnosed with…
Richardson, Lolita Lisa
A 34-year-old Japanese man working in Mexico City since April 2004, was referred to our hospital in December 2005 because of a nodule in the left lingular bronchus, first pointed out in September 2005. Transbronchial lung biopsy (TBLB) revealed coagulation necrosis, which contained yeast-like cells stained with fungiflora Y stain. We diagnosed pulmonary histoplasmosis (histoplasmoma type) based on the shape of the fungi and on his residential history. The nodule, resected in January, presented histological findings in concordance with the TBLB specimen. We later confirmed his serum was positive for an anti-histoplasma antibody. The pathogen was identified as Histoplasma capsulatum by PCR using lung tissue. This is apparently the first report of Histoplasmosis diagnosed by TBLB. Since imported mycosis is increasing, we should accumulate cases to make guidelines for diagnosis and treatment. PMID:19994596
Kunogi, Makiko; Tamura, Atsuhisa; Matsui, Hirotoshi; Akagawa, Shinobu; Nakajima, Yutsuki; Hebisawa, Akira
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies\\/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and
Kim D Blake; Chitra Prasad
Piriformis syndrome (PS) is the reversible compression of the sciatic nerve by the piriformis muscle. It may cause deep and\\u000a severe pain in the buttock, hip, and sciatica, with radiation into the thigh, leg, foot, and toes. Like carpal tunnel or pronator\\u000a syndromes, it may cause damage to the peripheral nerve through excessive pressure (1). In PS, piriformis muscular tension
Loren M. Fishman; Alena Polesin; Steven Sampson
Opinion statement The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts\\u000a and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms\\u000a of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude\\u000a fluid intake during ingestion of the solid portion of
William L. Hasler
Rheumatoid Arthritis is a chronic disease of unknown origin. It affects the joints, but also virtually every other organ. Its cause remains still unknown. The prevalence rate is approximately 1% worldwide, with some racial differences. Women are affected three times more often than men. Symmetric swelling of the joints and a substantial morning stiffness are the typical signs of the disease. Most often the wrists, MCP and PIP joints, and the ankle and MTP joints are affected. The arthritis is usually progressive, leading to destructive changes of the affected joints. Neurological symptoms can occur following destruction of the atlantoaxial joint. Diagnosis and classification of the disease follows the 1987 revised American Rheumatism Association criteria, but for practical purposes the approach described by Visser et al. seems more useful, calculating odds ratios for persisting and erosive disease. Effective treatment can start earlier with this approach. Conventional radiology and serum markers, especially the newer antibodies against CCP are important aids in diagnosing rheumatoid arthritis. Diseases to be separated from rheumatoid are other arthritides of autoimmune origin, the cristal arthropathies, vasculitides, septic and parainfectious arthritides, osteoarthritis, and paraneoplastic syndromes. PMID:15945214
Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena. In this focused review there is a discussion of difficult issues in hyperkinesias. The first one is the differential diagnosis between essential tremor (ET) and Parkinson’s disease (PD). They are readily distinguishable in the majority of patients but in a few subjects ET coexist with parkinsonian features whose underlying mechanism remains to be determined. The second topic of the review is dystonic tremor. Although increasingly diagnosed and reported as accounting for the majority of scans without evidence of dopaminergic deficits, its diagnostic criteria are ill-defined and differentiation from PD and ET can be challenging. In the last section, there is a discussion of the differential diagnosis of Sydenham’s chorea (SC), the most common cause of chorea in children. In a few patients, vascular disease, systemic lupus erythematosus, and primary antiphospholipid antibody syndrome can mimic SC.
We report a rare case of fibrosing mediastinitis diagnosed by thoracoscopic biopsy. A 56-year-old female visited our hospital with an abnormal mediastinal shadow on chest X ray. Chest computed tomography revealed a paravertebral tumor from Th9 to Th11. Pathological examination of thoracoscopic biopsy specimen showed fibrous tissue with mild inflammation and no malignant feature. Final diagnosis was idiopathic fibrosing mediastinitis. The paravertebral lesion shrinked spontaneously 5 months later after biopsy. PMID:24322358
Takahashi, Kazuya; Horio, Hirotoshi; Murakami, Satoko; Harada, Masahiko
\\u000a An immunologically mediated lung disease, allergic bronchopulmonary aspergillosis (ABPA) is predominantly found in patients\\u000a with asthma and cystic fibrosis (CF). This indolent entity is diagnosed by a set of well established criteria that have unfolded\\u000a over time. Other than demonstration of central bronchiectasis (CB) with normal tapering bronchi, which is regarded as a key\\u000a component for the diagnosis of ABPA
Report describes research in bearing-defect signature analysis - use of vibration-signal analysis to diagnose defects in roller and ball bearings. Experiments performed on bearings in good condition and other bearings in which various parts scratched to provide known defects correlated with vibration signals. Experiments performed on highly instrumented motor-driven rotor assembly at speeds up to 10,050 r/min, using accelerometers, velocity probes, and proximity sensors mounted at various locations on assembly to measure vibrations.
Zoladz, T.; Earhart, E.; Fiorucci, T.
Abstract This work describes and compares two black-box approaches, using syscall statistics and OS-level perfor- mance metrics, to automatically diagnose different performance problems in parallel file systems. Both approaches rely on peer-comparison diagnosis to compare,statistical attributes of relevant metrics across servers in order to indict the culprit node. An observation-based checklist is developed to identify from the metrics affected the
Michael P. Kasick
Congenital left ventricular diverticulum is a rare cardiac malformation. The incidence of left ventricular diverticulum is reported to be 0.05% of all congenital heart malformations. This case series comprised three infants with the diagnosis of congenital left ventricular diverticulum determined by echocardiography. In addition, two of the three babies also were detected to have other cardiac disease. Echocardiography is a useful tool for diagnosing congenital left ventricular diverticulum. PMID:22290590
Yang, Hui; Zhu, Qi; Chen, Jiao; Guo, Nan
Four US soldiers admitted to the Brian Allgood Army Community Hospital, Seoul, Korea, were diagnosed with hemorrhagic fever with renal syndrome, an acute febrile disease, from 27 October to 13 November 2005. Epidemiological investigations were conducted a...
J. Song K. Song L. J. Baek S. Moon S. H. Gu
Acute exertional rhabdomyolysis is a syndrome that is being diagnosed with greater frequency by the military physician. It is characterized by muscle pain, weakness, soreness, induration, and myoglobinuria. This occurs after an episode of very vigorous ph...
E. L. Gitin M. A. Demos
The authors examined the implications of test differences for defining and diagnosing comprehension deficits using reading comprehension tests. They had 995 children complete the Gray Oral Reading Test-3, the Qualitative Reading Inventory-3, the Woodcock-Johnson Passage Comprehension-3, and the Peabody Individual Achievement Test and compared which children were identified by each test as being in the lowest 10%. Although a child who performs so poorly might be expected to do poorly on all tests, the authors found that the average overlap between tests in diagnosing comprehension difficulties was only 43%. Consistency in diagnosis was greater for younger children, when comprehension deficits are the result of weaker decoding skills, than for older children. Inconsistencies between tests were just as evident when identifying the top performers. The different children identified as having a comprehension deficit by each test were compared on four profile variables-word decoding skill, IQ, ADHD symptoms, and working memory skill-to understand the nature of the different deficits assessed by each test. Theoretical and practical implications of these test differences in defining and diagnosing comprehension deficits are discussed. PMID:22442251
Keenan, Janice M; Meenan, Chelsea E
Abstract Background: Diagnosing Homo sapiens is a critical question in the study of human evolution. Although what constitutes living members of our own species is straightforward, in the fossil record this is still a matter of much debate. The issue is complicated by questions of species diagnoses and ideas about the mode by which a new species is born, by the arguments surrounding the behavioural and cognitive separateness of the species, by the increasing appreciation of variation in the early African H. sapiens record and by new DNA evidence of hybridization with extinct species. Methods and results: This study synthesizes thinking on the fossils, archaeology and underlying evolutionary models of the last several decades with recent DNA results from both H. sapiens and fossil species. Conclusion: It is concluded that, although it may not be possible or even desirable to cleanly partition out a homogenous morphological description of recent H. sapiens in the fossil record, there are key, distinguishing morphological traits in the cranium, dentition and pelvis that can be usefully employed to diagnose the H. sapiens lineage. Increasing advances in retrieving and understanding relevant genetic data provide a complementary and perhaps potentially even more fruitful means of characterizing the differences between H. sapiens and its close relatives. PMID:24932746
Stringer, Christopher Brian; Buck, Laura Tabitha
The median arcuate ligament syndrome is an uncommon condition characterized by the triad of postprandial abdominal pain, unintentional weight loss, and an epigastric bruit. This condition is diagnostically challenging and patients often undergo extensive laboratory, radiographic, and invasive evaluations before it is identified. Physicians should consider this syndrome in the differential diagnoses of chronic abdominal pain and mesenteric vasculitis. Once diagnosed, treatment is generally surgical with known predictors of favorable and unfavorable outcomes. Surgical candidates should be selected carefully. We describe the cases of two young active duty patients diagnosed with median arcuate ligament syndrome after suffering from chronic abdominal pain. Both were referred to our rheumatology department to evaluate for mesenteric vasculitis. Each had a different therapeutic outcome. PMID:23929065
Kay, Johnson C; Arroyo, Ramon A
Rheumatoid arthritis was diagnosed in a 30-year-old woman with erythema nodosum and arthritic symptoms since 1994, and she was treated with anti-rheumatic agents. Mediastinal and bilateral hilar lymphadenopathy and abnormal pulmonary shadows were detected in 1996, and she was admitted to our hospital in 1997. We also recognized the elevation of ACE and lysozyme, and found granulomas in a transbronchial lung biopsy and an arthrosis synovia biopsy. From these findings, sarcoidosis was diagnosed. Sarcoidosis demonstrating erythema nodosum, arthritis, and bilateral hilar lymphadenopathy is called Löfgren's syndrome. In Caucasians, Löfgren's syndrome is frequently encountered, but it is rare in Japanese. Our case had coexisting arthrosis symptoms, and satisfied the diagnosis criteria of rheumatic arthritis. Therefore, the differential diagnosis was important. We emphasize that it is necessary to consider Löfgren's syndrome when diagnosing patients with rheumatic features, even in Japan. PMID:12772602
Niimi, Takashi; Sato, Shigeki; Sugiura, Yoshiki; Akita, Kenji; Maeda, Hiroyoshi; Ninomiya, Shigemitsu; Achiwa, Hiroyuki; Masui, Sonoko; Bessho, Yuji; Maeno, Ken; Naniwa, Taio; Kotsuka, Masanori; Morishita, Munehiko; Ueda, Ryuzo
Relatively little information exists concerning the experiences of young people with Asperger Syndrome elicited while at secondary-school level. Accordingly, a sample of students diagnosed with Asperger Syndrome was interviewed about day-to-day school issues; and the experience of the special educational needs (SEN) Co-ordinators was tapped. While marked individual differences may exist among young people legitimately diagnosed, there were consistently expressed
Scimitar syndrome, a rare congenital cardiopulmonary condition, presents in both pediatric and adult populations as an anomalous pulmonary venous return of most of the right lung to the inferior vena cava. Recently, asymptomatic adult cases have been diagnosed with advances in imaging studies. We report the case of an asymptomatic 43-year-old male, with a complex variant scimitar syndrome diagnosed by computed tomographic angiography.
Alabi, Fortune O.; Umeh, Fred; Lama, Maximo; Christian, Francis G.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.
We used a national online registry to examine variation in cumulative prevalence of community diagnosis of psychiatric comorbidity in 4343 children with autism spectrum disorders (ASD). Adjusted multivariate logistic regression models compared influence of individual, family, and geographic factors on cumulative prevalence of parent-reported anxiety disorder, depression, bipolar disorder, and attention deficit/hyperactivity disorder or attention deficit disorder. Adjusted odds of community-assigned lifetime psychiatric comorbidity were significantly higher with each additional year of life, with increasing autism severity, and with Asperger syndrome and pervasive developmental disorder—not otherwise specified compared with autistic disorder. Overall, in this largest study of parent-reported community diagnoses of psychiatric comorbidity, gender, autistic regression, autism severity, and type of ASD all emerged as significant factors correlating with cumulative prevalence. These findings could suggest both underlying trends in actual comorbidity as well as variation in community interpretation and application of comorbid diagnoses in ASD.
Rosenberg, Rebecca E.; Kaufmann, Walter E.; Law, J. Kiely; Law, Paul A.
Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea. PMID:24741461
Choi, Hong Seok; Kim, Min Joo; Moon, Chae Ho; Yoon, Jong Ho; Ku, Ha Ra; Kang, Geon Wook; Na, Im Il; Lee, Seung-Sook; Lee, Byung-Chul; Park, Young Joo; Kim, Hong Il; Ku, Yun Hyi
A 60-year-old woman was admitted to our hospital with a two day history of truncal ataxia and diplopia. Three days after admission, complete paresis of eye movements, left ptosis, taste impairment and absence of deep tendon reflexes appeared. The patient displayed normal facial movements; however, she reported decreased sensations of sweet and salty tastes. Anti-GQ1b antibodies were detected in the serum, and Fisher syndrome was therefore diagnosed. Intravenous immunoglobulin was administered starting five days after admission, with limitations of eye movements, areflexia and taste impairment showing improvements by 12 days after onset. Taste disturbance is rare in patients with Fisher syndrome. In this case, we hypothesize that autoantibodies may have targeted antigens in the chorda tympani, glossopharyngeal nerve or taste buds. PMID:23064580
Ohe, Yasuko; Shintani, Daisuke; Kato, Yuji; Tanahashi, Norio
Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis. PMID:24689103
Szanto, Paula; Barbieru, Valentina; Badea, Radu; Pop, Teodora; Rusu, Ioana; Al Hajjar, Nadim
This is a report on a 37-year-old female patient with enzymatically verified Gaucher's disease. The clinical symptoms corresponded to the neuronopathic form of the disease (type 3). A progressive cerebellar syndrome had been developing for 1 year. So far, there have been no records of complex cerebellar symptoms in connection with Gaucher's disease in the literature. After ruling out other differential diagnoses Gaucher's disease was considered to be the cause of such cerebellar symptoms, which could be attributed to toxic glucocerebroside deposits in the cerebellum. PMID:19590844
Ukley, B; Bachhuber, A; Hermann, W
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
Slavotinek, Anne M.
Sotos syndrome (OMIM #117550) is a congenital syndrome characterized by overgrowth with advanced bone age, macrocephaly, and learning difficulties. Endocrine complications of this syndrome have not yet been fully described in previous reports. We here investigated the clinical manifestations of Sotos syndrome in Japanese patients who presented with hyperinsulinemic hypoglycemia of infancy. We recruited patients diagnosed as having Sotos syndrome who presented with the complication of hyperinsulinemia during the neonatal period using a survey of the abstracts of Pediatric Meetings in domestic areas of Japan from 2007 to 2011. As a result, five patients (four females and one male) were recruited to evaluate the clinical presentation of Sotos syndrome by reference to the clinical record of each patient. A 5q35 deletion including the NSD1 gene was detected in all patients. Major anomalies in the central nervous, cardiovascular, and genito-urinary systems were frequently found. Hypoglycemia occurred between 0.5 and 3?hr after birth and high levels of insulin were initially found within 3 days of birth. The patients were treated with intravenous glucose infusion at a maximum rate of 4.6-11.0?mg/kg/min for 12-49 days. Three of the five patients required nasal tube feeding. One patient received medical treatment with diazoxide. This study shows that patients with Sotos syndrome may present with transient hyperinsulinemic hypoglycemia in the neonatal period. PMID:23239432
Matsuo, Terumichi; Ihara, Kenji; Ochiai, Masayuki; Kinjo, Tadamune; Yoshikawa, Yoko; Kojima-Ishii, Kanako; Noda, Marie; Mizumoto, Hiroshi; Misaki, Maiko; Minagawa, Kyoko; Tominaga, Koji; Hara, Toshiro
We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.
Chauhan, Krati; Michet, Clement
The knowledge of brain syndromes is essential for stroke physicians and neurologists, particularly those that can be extremely difficult and challenging to diagnose due to the great variability of symptom presentation and yet of clinical significance in terms of potential devastating effect with poor outcome. The diagnosis and understanding of stroke syndromes has improved dramatically over the years with the advent of modern imaging, while the management is similar to general care as recommended by various guidelines in addition to care of such patients on specialized units with facilities for continuous monitoring of vital signs and dedicated stroke therapy. Such critical care can be provided either in the acute stroke unit, the medical intensive care unit or the neurological intensive care unit. There may be no definitive treatment at reversing stroke syndromes, but it is important to identify the signs and symptoms for an early diagnosis to prompt quick treatment, which can prevent further devastating complications following stroke. The aim of this article is to discuss some of the important clinical stroke syndromes encountered in clinical practice and discuss their management. PMID:23483140
Balami, J S; Chen, R L; Buchan, A M
A 39-year-old HIV-infected woman developed signs and symptoms of obstructive jaundice and cholestasis. Serological tests were positive for cytomegalovirus (CMV) infection. There was no evidence of AIDS cholangiopathy in ultrasonography or magnetic resonance cholangiopancreatography (MRCP). A liver biopsy revealed marked ductopenia and the patient was diagnosed with vanishing bile duct syndrome, thought to be secondary to CMV infection as a result of profound immunosuppression. To the best of our knowledge, this is the first reported case of vanishing bile duct syndrome diagnosed in a patient with HIV/AIDS. PMID:17305935
Hindupur, S; Yeung, M; Shroff, P; Fritz, J; Kirmani, N
Autoimmune polyglandular syndrome, type 1 (APS-1) is a rare syndrome. Here we present a case report of a 24-year-old female patient who complained of progressive weakness. While autoimmune hepatitis was diagnosed, no improvement of biochemical parameters was obtained after immunosuppressive treatment. Hypoparathyroidism and adrenocortical failure were identified. Her health status clearly improved once proper control of the calcium-phosphate metabolism was obtained and after the administration of substitution hydrocortisone doses, leading to full normalization of biochemical liver tests. The reported case illustrates a rare form of APS-1 failure, in which the diagnosed autoimmune hepatitis was only the first symptom.