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Sample records for partial digeorge syndrome

  1. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.

    PubMed

    Voss, Anne K; Vanyai, Hannah K; Collin, Caitlin; Dixon, Mathew P; McLennan, Tamara J; Sheikh, Bilal N; Scambler, Peter; Thomas, Tim

    2012-09-11

    DiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins. Epigenetic phenomena have been invoked to explain phenotypic differences in individuals of identical genetic composition, although specific chromatin modifications relevant to DiGeorge syndrome are elusive. Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, promoting its expression and histone 3 lysine 9 acetylation. Importantly, DiGeorge syndrome-like anomalies are present in mice with homozygous mutation of Moz and in heterozygous Moz mutants when combined with Tbx1 haploinsufficiency or oversupply of retinoic acid. Conversely, a Tbx1 transgene rescues the heart phenotype in Moz mutants. Our data reveal a molecular mechanism for a specific chromatin modification of the Tbx1 locus intersecting with an environmental determinant, modeling variability in DiGeorge syndrome. PMID:22921202

  2. p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

    PubMed Central

    Caprio, Cinzia; Baldini, Antonio

    2014-01-01

    T-box 1 (Tbx1), a gene encoding a T-box transcription factor, is required for embryonic development in humans and mice. Half dosage of this gene in humans causes most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, including aortic arch and cardiac outflow tract abnormalities. Here we found a strong genetic interaction between Tbx1 and transformation related protein 53 (Trp53). Indeed, genetic ablation of Trp53, or pharmacological inhibition of its protein product p53, rescues significantly the cardiovascular defects of Tbx1 heterozygous and hypomorphic mutants. We found that the Tbx1 and p53 proteins do not interact directly but both occupy a genetic element of Gbx2, which is required for aortic arch and cardiac outflow tract development, and is a known genetic interactor of Tbx1. We found that Gbx2 expression is down-regulated in Tbx1+/− embryos and is restored to normal levels in Tbx1+/−;Trp53+/− embryos. In addition, we found that the genetic element that binds both Tbx1 and p53 is highly enriched in H3K27 trimethylation, and upon p53 suppression H3K27me3 levels are reduced, along with Ezh2 enrichment. This finding suggests that the rescue of Gbx2 expression in Tbx1+/−;Trp53+/− embryos is due to reduction of repressive chromatin marks. Overall our data identify unexpected genetic interactions between Tbx1 and Trp53 and provide a proof of principle that developmental defects associated with reduced dosage of Tbx1 can be rescued pharmacologically. PMID:25197075

  3. Absent Aortic Valve in DiGeorge Syndrome.

    PubMed

    Bertsch, Elizabeth C; Minturn, Lucy; Gotteiner, Nina L; Ernst, Linda M

    2016-01-01

    A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome. PMID:26230226

  4. A case of DiGeorge syndrome in Georgia.

    PubMed

    Chikovani, M; Kutubidze, T; Khvedeliani, N; Pagava, K

    2011-04-01

    Patient 6 - year- old boy, with history of recurrent otitis, cleft palate, was admitted to the hospital for fever, abdominal pain; He had high ESR,CRP, low T lymphocytes, VSD. Peritoneal fluid was positive for pseudomona aeroginoza. Diagnosis of DiGeorge syndrome was confirmed by further genetical study. Immune deficiencies should be considered when infections are severe, persistent resistant to standard treatment, or caused by opportunistic organisms. Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as heart defects, calcium defects, poor immune system functions and cleft palate. People who had poor immune function as children due to small or missing thymus, may have an increased risk of autoimmune disorders, such as a rheumatoid arthritis and Graves disease. Because DiGeorge syndrome can result in so many disorders, a number of specialists should be involved in diagnosing specific conditions, recommending treatments and providing care. PMID:21617283

  5. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

    PubMed Central

    Eberle, P; Berger, C; Junge, S; Dougoud, S; Büchel, E Valsangiacomo; Riegel, M; Schinzel, A; Seger, R; Güngör, T

    2009-01-01

    A subgroup of patients with 22q11·2 microdeletion and partial DiGeorge syndrome (pDGS) appears to be susceptible to non-cardiac mortality (NCM) despite sufficient overall CD4+ T cells. To detect these patients, 20 newborns with 22q11·2 microdeletion and congenital heart disease were followed prospectively for 6 years. Besides detailed clinical assessment, longitudinal monitoring of naive CD4+ and cytotoxic CD3+CD8+ T cells (CTL) was performed. To monitor thymic activity, we analysed naive platelet endothelial cell adhesion molecule-1 (CD31+) expressing CD45RA+RO−CD4+ cells containing high numbers of T cell receptor excision circle (TREC)-bearing lymphocytes and compared them with normal values of healthy children (n = 75). Comparing two age periods, low overall CD4+ and naive CD4+ T cell numbers were observed in 65%/75%, respectively, of patients in period A (< 1 year) declining to 22%/50%, respectively, of patients in period B (> 1/< 7 years). The percentage of patients with low CTLs (< P10) remained robust until school age (period A: 60%; period B: 50%). Low numbers of CTLs were associated with abnormally low naive CD45RA+RO−CD4+ T cells. A high-risk (HR) group (n = 11) and a standard-risk (SR) (n = 9) group were identified. HR patients were characterized by low numbers of both naive CD4+ and CTLs and were prone to lethal infectious and lymphoproliferative complications (NCM: four of 11; cardiac mortality: one of 11) while SR patients were not (NCM: none of nine; cardiac mortality: two of nine). Naive CD31+CD45RA+RO−CD4+, naive CD45RA+RO−CD4+ T cells as well as TRECs/106 mononuclear cells were abnormally low in HR and normal in SR patients. Longitudinal monitoring of naive CD4+ and cytotoxic T cells may help to discriminate pDGS patients at increased risk for NCM. PMID:19040613

  6. DiGeorge syndrome with vertebral and rib dysplasia

    SciTech Connect

    Puno-Cocuzza, C.; David, K.; Kogekar, N.

    1994-09-01

    DiGeorge syndrome results from defect in the development of the third and fourth pharyngeal pouches, and is characterized by conotruncal heart defects, aplasia or hypoplasia of thymus and parathyroid glands resulting in immune deficiency and hypocalcemia. Other associated abnormalities include renal, thyroid and diaphragmatic defects, oral clefting, etc. Etiologically, it is heterogeneous, with a microdeletion of 22q11 present in over 80% of cases. Our patient was born following a pregnancy complicated by insulin dependent gestational diabetes. There was truncus arteriosus type 2, absense of thymic shadow on CXR with severe deficiency of T cell function, and persistent hypocalcemia with low parathormone. Right kidney was absent. Dysplastic ribs including fused and bifid ribs were noted. Hypoplastic vertebrae and hemivertebrae were present through thoracic and lumbar regions. Chromosome analysis was normal, and metaphase FISH analysis with probe N25 representing locus D22S75 did not show any deletion of 22q11.2. The skeletal findings similar to these have not been previously reported in association with DiGeorge syndrome to our knowledge. Vertebral and rib abnormalities are known to occur with pregestational maternal diabetes. Maternal diabetes has also been suggested to be a possible etiology in a very small proportion of DiGeorge syndrome cases. It is possible that these findings occured together on account of gestational maternal diabetes in our case.

  7. DiGeorge syndrome associated with solitary median maxillary central incisor.

    PubMed

    Yang, Huai-Chih; Shyur, Shyh-Dar; Huang, Li-Hsin; Chang, Yi-Chi; Wen, Da-Chin; Liang, Pei-Hsuan; Lin, Mao-Tsair

    2005-01-01

    DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. We report a patient with DiGeorge syndrome who was diagnosed at nearly 1 month of age and was later found to have a solitary median central incisor. Initially, the patient presented with recurrent episodes of respiratory distress attributed to partial airway obstruction, one of the phenotypic features of SMMCI. A fluorescence in situ hybridization study showed a chromosome 22q11.2 deletion. PMID:16252847

  8. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

    PubMed Central

    Moerman, P; Goddeeris, P; Lauwerijns, J; Van der Hauwaert, L G

    1980-01-01

    Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot. Images PMID:7426208

  9. Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome

    PubMed Central

    Berruto, Massimo; Parente, Andrea; Ferrua, Paolo; Pasqualotto, Stefano; Uboldi, Francesco; Usellini, Eva

    2015-01-01

    A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable to walk without crutches and severely limited in daily living activities. Because of arthritic changes of the patellofemoral joint and the failure of previous surgeries it was decided to perform only an open lateral release and medial patellofemoral ligament (MPFL) reconstruction using a biosynthetic ligament in order to obtain patellofemoral stability. At one year post-op range of motion (ROM) was 0–120 with a firm end point at medial patellar mobilization; patella was stable throughout the entire ROM. All the scores improved and she could be able to perform daily activity without sensation of instability. Bilateral patellar subluxation and systemic hyperlaxity are characteristics of syndromic patients and according to literature can be also present in DiGeorge syndrome. MPFL reconstruction with lateral release was demonstrated to be the correct solution in the treatment of patellar instability in this complex case. The choice of an artificial ligament to reconstruct the MPFL was useful in this specific patient with important tissue laxity due to her congenital syndrome. PMID:26783479

  10. “FISHed” out the diagnosis: A case of DiGeorge syndrome

    PubMed Central

    Bajaj, S; Thombare, TS; Tullu, MS; Agrawal, M

    2016-01-01

    Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS), a fluorescence in situ hybridization (FISH) analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy. PMID:26489877

  11. "FISHed" out the diagnosis: A case of DiGeorge syndrome.

    PubMed

    Bajaj, S; Thombare, T S; Tullu, M S; Agrawal, M

    2016-01-01

    Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS), a fluorescence in situ hybridization (FISH) analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy. PMID:26489877

  12. Features of DiGeorge syndrome and CHARGE association in five patients.

    PubMed Central

    de Lonlay-Debeney, P; Cormier-Daire, V; Amiel, J; Abadie, V; Odent, S; Paupe, A; Couderc, S; Tellier, A L; Bonnet, D; Prieur, M; Vekemans, M; Munnich, A; Lyonnet, S

    1997-01-01

    We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were normal. In view of the broad clinical spectrum and the likely genetic heterogeneity of both disorders, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as several features of CHARGE association have been reported in rare patients with 22q11.2 deletion association phenotypes. On the other hand, these could be novel cases of an independent association involving a complex defect of neural crest cells originating from the pharyngeal pouches. Images PMID:9429139

  13. Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia

    PubMed Central

    Davies, E. Graham

    2013-01-01

    The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a microdeletion at chromosome 22q11 though other genetic and non-genetic causes have been described. The immunological competence of affected individuals is highly variable, ranging from normal to a severe combined immunodeficiency when there is complete athymia. In the most severe group, correction of the immunodeficiency can be achieved using thymus allografts which can support thymopoiesis even in the absence of donor-recipient matching at the major histocompatibility loci. This review focuses on the causes of DGS, the immunological features of the disorder, and the approaches to correction of the immunodeficiency including the use of thymus transplantation. PMID:24198816

  14. SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome.

    PubMed

    Jyonouchi, Harumi; Lien, Kenneth W; Aguila, Helen; Spinnato, Gaetano G; Sabharwal, Sanjeev; Pletcher, Beth A

    2006-06-01

    We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophageal reflux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non-steroidal anti-inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome. PMID:16491384

  15. DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation

    PubMed Central

    Choudhry, Priya; Trede, Nikolaus S.

    2013-01-01

    DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects. Although the etiology of DGS is critically regulated by TBX1 gene, the molecular pathways underpinning TBX1's role in heart development are not fully understood. In this study, we characterized heart defects and downstream signaling in the zebrafish tbx1−/− mutant, which has craniofacial and immune defects similar to DGS patients. We show that tbx1−/− mutants have defective heart looping, morphology and function. Defective heart looping is accompanied by failure of cardiomyocytes to differentiate normally and failure to change shape from isotropic to anisotropic morphology in the outer curvatures of the heart. This is the first demonstration of tbx1's role in regulating heart looping, cardiomyocyte shape and differentiation, and may explain how Tbx1 regulates conotruncal development in humans. Next we elucidated tbx1's molecular signaling pathway guided by the cardiac phenotype of tbx1−/− mutants. We show for the first time that wnt11r (wnt11 related), a member of the non-canonical Wnt pathway, and its downstream effector gene alcama (activated leukocyte cell adhesion molecule a) regulate heart looping and differentiation similarly to tbx1. Expression of both wnt11r and alcama are downregulated in tbx1−/− mutants. In addition, both wnt11r−/− mutants and alcama morphants have heart looping and differentiation defects similar to tbx1−/− mutants. Strikingly, heart looping and differentiation in tbx1−/− mutants can be partially rescued by ectopic expression of wnt11r or alcama, supporting a model whereby heart looping and differentiation are regulated by tbx1 in a linear pathway through wnt11r and alcama. This is the first study linking tbx1 and non-canonical Wnt signaling and extends our

  16. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

    PubMed

    Bittel, D C; Yu, S; Newkirk, H; Kibiryeva, N; Holt, A; Butler, M G; Cooley, L D

    2009-01-01

    Hemizygous deletions of the chromosome 22q11.2 region result in the 22q11.2 deletion syndrome also referred to as DiGeorge, Velocardiofacial or Shprintzen syndromes. The phenotype is variable but commonly includes conotruncal cardiac defects, palatal abnormalities, learning and behavioral problems, immune deficiency, and facial anomalies. Four distinct highly homologous blocks of low copy number repeat sequences (LCRs) flank the deletion region. Mispairing of LCRs during meiosis with unequal meiotic exchange is assumed to cause the recurrent and consistent deletions. The proximal LCR is reportedly located at 22q11.2 from 17.037 to 17.083 Mb while the distal LCR is located from 19.835 to 19.880 Mb. Although the chromosome breakpoints are thought to localize to the LCRs, the positions of the breakpoints have been investigated in only a few individuals. Therefore, we used high resolution oligonucleotide-based 244K microarray comparative genomic hybridization (aCGH) to resolve the breakpoints in a cohort of 20 subjects with known 22q11.2 deletions. We also investigated copy number variation (CNV) in the rest of the genome. The 22q11.2 breaks occurred on either side of the LCR in our subjects, although more commonly on the distal side of the reported proximal LCR. The proximal breakpoints in our subjects spanned the region from 17.036 to 17.398 Mb. This region includes the genes DGCR6 (DiGeorge syndrome critical region protein 6) and PRODH (proline dehydrogenase 1), along with three open reading frames that may encode proteins of unknown function. The distal breakpoints spanned the region from 19.788 to 20.122 Mb. This region includes the genes GGT2 (gamma-glutamyltransferase-like protein 2), HIC2 (hypermethylated in cancer 2), and multiple transcripts of unknown function. The genes in these two breakpoint regions are variably hemizygous depending on the location of the breakpoints. Our 20 subjects had 254 CNVs throughout the genome, 94 duplications and 160 deletions

  17. SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome

    PubMed Central

    Duband, Jean-Loup; Escot, Sophie; Fournier-Thibault, Claire

    2016-01-01

    ABSTRACT The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcriptional activator TBX1 is decisive for the occurrence of the disease. During embryogenesis, Tbx1 is required for patterning of pharyngeal region giving rise to structures of the face, neck and chest. Genetic and developmental studies demonstrated that the severity and variability of the syndrome are determined by Tbx1 targets involved in pharyngeal neural crest cell migration and survival. Recently, we demonstrated that the chemokine Sdf1/Cxcl12 and its receptor Cxcr4 are genetically downstream of Tbx1 during pharyngeal development and that reduction of CXCR4 signaling results in defects which recapitulate the major morphological anomalies of 22q11DS, supporting the possibility of a pivotal role for the SDF1/CXCR4 axis in its etiology. PMID:27500073

  18. The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

    PubMed Central

    Froňková, Eva; Klocperk, Adam; Svatoň, Michael; Nováková, Michaela; Kotrová, Michaela; Kayserová, Jana; Kalina, Tomáš; Keslová, Petra; Votava, Felix; Vinohradská, Hana; Freiberger, Tomáš; Mejstříková, Ester; Trka, Jan; Šedivá, Anna

    2014-01-01

    DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS. We tested what proportion of DGS patients could be identified at birth by combined TREC and kappa-deleting element recombination circle (KREC) screening. Furthermore, we followed TREC/KREC levels in peripheral blood (PB) to monitor postnatal changes in lymphocyte production. Methods TREC/KREC copies were assessed by quantitative PCR (qPCR) and were related to the albumin control gene in dry blood spots (DBSs) from control (n = 56), severe immunodeficiency syndrome (SCID, n = 10) and DGS (n = 13) newborns. PB was evaluated in DGS children (n = 32), in diagnostic samples from SCID babies (n = 5) and in 91 controls. Results All but one DGS patient had TREC levels in the normal range at birth, albeit quantitative TREC values were significantly lower in the DGS cohort. One patient had slightly reduced KREC at birth. Postnatal DGS samples revealed reduced TREC numbers in 5 of 32 (16%) patients, whereas KREC copy numbers were similar to controls. Both TREC and KREC levels showed a more pronounced decrease with age in DGS patients than in controls (p<0.0001 for both in a linear model). DGS patients had higher percentages of NK cells at the expense of T cells (p<0.0001). The patients with reduced TREC levels had repeated infections in infancy and developed allergy and/or autoimmunity, but they were not strikingly different from other patients. In 12 DGS patients with paired DBS and blood samples, the TREC/KREC levels were mostly stable or increased and showed similar kinetics in respective patients. Conclusions The combined TREC/KREC approach with correction via control gene identified 1 of 13 (8%) of DiGeorge syndrome patients at birth in our cohort. The majority of patients had TREC/KREC levels in the normal range

  19. Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations.

    PubMed

    Escot, Sophie; Blavet, Cédrine; Faure, Emilie; Zaffran, Stéphane; Duband, Jean-Loup; Fournier-Thibault, Claire

    2016-02-15

    DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development of neural crest cells (NCs) that colonize the pharyngeal arches and contribute to lower jaw, neck and heart tissues. Although TBX1 has been identified as the main gene accounting for the defects observed in human patients and mouse models, the molecular mechanisms underlying DGS etiology are poorly identified. The recent demonstrations that the SDF1/CXCR4 axis is implicated in NC chemotactic guidance and impaired in cortical interneurons of mouse DGS models prompted us to search for genetic interactions between Tbx1, Sdf1 (Cxcl12) and Cxcr4 in pharyngeal NCs and to investigate the effect of altering CXCR4 signaling on the ontogeny of their derivatives, which are affected in DGS. Here, we provide evidence that Cxcr4 and Sdf1 are genetically downstream of Tbx1 during pharyngeal NC development and that reduction of CXCR4 signaling causes misrouting of pharyngeal NCs in chick and dramatic morphological alterations in the mandibular skeleton, thymus and cranial sensory ganglia. Our results therefore support the possibility of a pivotal role for the SDF1/CXCR4 axis in DGS etiology. PMID:26755698

  20. Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

    SciTech Connect

    Nickel, R.E.; Pillers, D.M.; Merkens, M.; Magenis, R.E.; Zonana, J.; Driscoll, D.A.; Emanuel, B.S.

    1994-10-01

    Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.

  1. Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

    PubMed Central

    Cundiff, David K; Harris, William

    2006-01-01

    Background Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. Case presentation The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months – 6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1–4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child – no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. Conclusion The raw foods vegan diet and possibly inherited small stature from the father's side

  2. What`s in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial and conotruncal anomalies face syndromes

    SciTech Connect

    Wulfsberg, E.A.; Leana-Cox, J.; Neri, G.

    1996-11-11

    The recent advances in our understanding of the phenotype associated with deletion of the DiGeorge Chromosome Region (DGCR) at 22q11.2 are in many ways analogous to the fable about the blind men and the elephant. Originally described as three distinct phenotypes (DiGeorge (DG) syndrome, velocardiofacial (VCF) syndrome, and the conotruncal anomalies face (CTAF) syndrome), it is now clear that there is only a single broad and variable phenotype associated with deletion of the DGCR. As in the fable, distinguished clinicians approached this phenotypic {open_quotes}elephant{close_quotes} from different perspectives and provided three separate, although overlapping descriptions. Our analogy to this fable is not to imply some {open_quotes}blindness{close_quotes} on the part of these clinicians, but rather to point out the well-known difficulty in delineating the indistinct phenotypic boundaries of a syndrome until a genetic or biochemical marker for the condition is available. The recent availability of a fluorescent in situ hybridization (FISH) probe to detect deletion of the DGCR now allows delineation of the broad phenotype of our {open_quotes}elephant{close_quotes} which spans from lethal DG phenotypes through the intermediate VCF and CTAF phenotypes to the newly recognized {open_quotes}mild{close_quotes} phenotype consisting of only developmental delays and subtle facial abnormalities. 33 refs.

  3. Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep

    PubMed Central

    Funato, Hiromasa; Sato, Makito; Sinton, Christopher M.; Gautron, Laurent; Williams, S. Clay; Skach, Amber; Elmquist, Joel K.; Skoultchi, Arthur I.; Yanagisawa, Masashi

    2010-01-01

    Sleep and wakefulness are regulated primarily by inhibitory interactions between the hypothalamus and brainstem. The expression of the states of rapid eye movement (REM) sleep and non-REM (NREM) sleep also are correlated with the activity of groups of REM-off and REM-on neurons in the dorsal brainstem. However, the contribution of ventral brainstem nuclei to sleep regulation has been little characterized to date. Here we examined sleep and wakefulness in mice deficient in a homeobox transcription factor, Goosecoid-like (Gscl), which is one of the genes deleted in DiGeorge syndrome or 22q11 deletion syndrome. The expression of Gscl is restricted to the interpeduncular nucleus (IP) in the ventral region of the midbrain–hindbrain transition. The IP has reciprocal connections with several cell groups implicated in sleep/wakefulness regulation. Although Gscl−/− mice have apparently normal anatomy and connections of the IP, they exhibited a reduced total time spent in REM sleep and fewer REM sleep episodes. In addition, Gscl−/− mice showed reduced theta power during REM sleep and increased arousability during REM sleep. Gscl−/− mice also lacked the expression of DiGeorge syndrome critical region 14 (Dgcr14) in the IP. These results indicate that the absence of Gscl and Dgcr14 in the IP results in altered regulation of REM sleep. PMID:20921407

  4. Endothelial Neuropilin Disruption in Mice Causes DiGeorge Syndrome-Like Malformations via Mechanisms Distinct to Those Caused by Loss of Tbx1

    PubMed Central

    Zhou, Jingjing; Pashmforoush, Mohammad; Sucov, Henry M.

    2012-01-01

    The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant mice. Many additional genes have been shown to cause DGS-like phenotypes in mice when mutated; these generally intersect in some manner with Tbx1, and therefore impact the same developmental processes in which Tbx1 itself is involved. In this study, using Tie2Cre, we show that endothelial-specific mutation of the gene encoding the VEGFA coreceptor neuropilin-1 (Nrp1) also replicates the most prominent terminal phenotypes that typify DGS. However, the developmental etiologies of these defects are fundamentally different from those caused by absence of TBX1. In Tie2Cre/Nrp1 mutants, initial pharyngeal organization is normal but subsequent pharyngeal organ growth is impaired, second heart field differentiation is normal but cardiac outflow tract cushion organization is distorted, neural crest cell migration is normal, and palatal mesenchyme proliferation is impaired with no change in apoptosis. Our results demonstrate that impairment of VEGF-dependent endothelial pathways leads to a spectrum of DiGeorge syndrome-type malformations, through processes that are distinguishable from those controlled by Tbx1. PMID:22396765

  5. Secondary Immunologic Consequences in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

    PubMed Central

    Zemble, R.; Prak, E. Luning; McDonald, K.; McDonald-McGinn, D.; Zackai, E.; Sullivan, K.

    2010-01-01

    Clinical evidence suggests that patients with Chromosome 22q11.2 deletion (Ch22q11.2D) have an increased prevalence of atopic and autoimmune disease and this has been without explanation. We hypothesized that the increase in atopy was due to homeostatic proliferation of T cells leading to a Th2 skew. We performed intracellular cytokine staining to define Th1/Th2 phenotypes in toddlers (early homeostatic proliferation) and adults (post homeostatic proliferation) with this syndrome. To attempt to understand the predisposition to autoimmunity we performed immunophenotyping analyses to define Th17 cells and B cell subsets. Adult Ch22q11.2D patients had a higher percentage of IL-4+CD4+ T cells than controls. Th17 cells were no different in patients and controls. In addition, adult Ch22q11.2D syndrome patients had significantly lower switched memory B cells, suggesting a dysregulated B cell compartment. These studies demonstrate that the decrement in T cell production has secondary consequences in the immune system, which could mold the patients’ clinical picture. PMID:20472505

  6. Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion

    SciTech Connect

    Goodship, J.; Lynch, S.; Brown, J.

    1994-09-01

    DiGeorge syndrome (DGS) is a congenital anomaly consisting of cardiac defects, aplasia or hypoplasia of the thymus and parathroid glands, and dysmorphic facial features. The majority of DGS cases have a submicroscopic deletion within chromosome 22q11. However there have been a number of reports of DGS in association with other chromosomal abnormalities including four cases with chromosome 10p deletions. We describe a further 10p deletion case and suggest that the facial features in children with DGS due to deletions of 10p are different from those associated with chromosome 22 deletions. The propositus was born at 39 weeks gestation to unrelated caucasian parents, birth weight 2580g (10th centile) and was noted to be dysmorphic and cyanosed shortly after birth. The main dysmorphic facial features were a broad nasal bridge with very short palpebral fissures. Echocardiography revealed a large subsortic VSD and overriding aorta. She had a low ionised calcium and low parathroid hormone level. T cell subsets and PHA response were normal. Abdominal ultrasound showed duplex kidneys and on further investigation she was found to have reflux and raised plasma creatinine. She had an anteriorly placed anus. Her karyotype was 46,XX,-10,+der(10)t(3;10)(p23;p13)mat. The dysmorphic facial features in this baby are strikingly similar to those noted by Bridgeman and Butler in child with DGS as the result of a 10p deletion and distinct from the face seen in children with DiGeorge syndrome resulting from interstitial chromosome 22 deletions.

  7. Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome

    PubMed Central

    Sinha, Tanvi; Li, Ding; Théveniau-Ruissy, Magali; Hutson, Mary R.; Kelly, Robert G.; Wang, Jianbo

    2015-01-01

    Outflow tract (OFT) malformation accounts for ∼30% of human congenital heart defects and manifests frequently in TBX1 haplo-insufficiency associated DiGeorge (22q11.2 deletion) syndrome. OFT myocardium originates from second heart field (SHF) progenitors in the pharyngeal and splanchnic mesoderm (SpM), but how these progenitors are deployed to the OFT is unclear. We find that SHF progenitors in the SpM gradually gain epithelial character and are deployed to the OFT as a cohesive sheet. Wnt5a, a non-canonical Wnt, is expressed specifically in the caudal SpM and may regulate oriented cell intercalation to incorporate SHF progenitors into an epithelial-like sheet, thereby generating the pushing force to deploy SHF cells rostrally into the OFT. Using enhancer trap and Cre transgenes, our lineage tracing experiments show that in Wnt5a null mice, SHF progenitors are trapped in the SpM and fail to be deployed to the OFT efficiently, resulting in a reduction in the inferior OFT myocardial wall and its derivative, subpulmonary myocardium. Concomitantly, the superior OFT and subaortic myocardium are expanded. Finally, in chick embryos, blocking the Wnt5a function in the caudal SpM perturbs polarized elongation of SHF progenitors, and compromises their deployment to the OFT. Collectively, our results highlight a critical role for Wnt5a in deploying SHF progenitors from the SpM to the OFT. Given that Wnt5a is a putative transcriptional target of Tbx1, and the similar reduction of subpulmonary myocardium in Tbx1 mutant mice, our results suggest that perturbing Wnt5a-mediated SHF deployment may be an important pathogenic mechanism contributing to OFT malformations in DiGeorge syndrome. PMID:25410658

  8. Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome

    PubMed Central

    Karpinski, Beverly A.; Maynard, Thomas M.; Fralish, Matthew S.; Nuwayhid, Samer; Zohn, Irene E.; Moody, Sally A.; LaMantia, Anthony-S.

    2014-01-01

    ABSTRACT We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia – debilitating feeding, swallowing and nutrition difficulties from birth onward – within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS. PMID:24357327

  9. DiGeorge Syndrome (DGS)

    MedlinePlus

    American Academy of Allergy Asthma & Immunology Menu Search Main navigation Skip to content Conditions & Treatments Allergies Asthma Primary Immunodeficiency Disease Related Conditions Drug Guide Conditions Dictionary Just ...

  10. Thymus Transplantation in Complete DiGeorge Anomaly

    PubMed Central

    Markert, M. Louise; Devlin, Blythe H.; Chinn, Ivan; McCarthy, Elizabeth A.

    2016-01-01

    Complete DiGeorge anomaly is characterized by athymia, congenital heart disease and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one third of patients present with rash and lymphadenopathy associated with oligoclonal “host” T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, 36 of whom survive. The survivors develop naïve T cells and a diverse T cell repertoire. PMID:19066739

  11. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology

    SciTech Connect

    Lipson, A.; Sholler, G.; Issacs, D.

    1996-11-11

    We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. 58 refs., 3 figs.

  12. Autosomal Trisomies and Partial Trisomy Syndromes

    PubMed Central

    Zaleski, W. A.

    1963-01-01

    The establishing of 46 chromosomes as the normal complement in man and the report of the sex chromatin bodies in buccal smears were followed by reports of trisomies and other abnormal patterns of the X and Y chromosomes in Klinefelter's and Turner's syndromes. Abnormal autosomal complements were described in mongolism, in the E-trisomy syndrome, the D-trisomy syndrome, in the Sturge-Weber syndrome, Waldenstrom's macroglobulinemia, benign congenital hypotonia, atrial septal defect and in the schizoid personality. Certain of these conditions, as well as the “oral-facial-digital” syndrome, were also found to exist as partial trisomies. The mechanism of a trisomy is one of non-disjunction and of partial trisomy translocation or insertion. Two cases of the partial trisomy in the E group are described; these are of especial interest because of the familial incidence, longer survival and male sex occurrence, features which are rarely seen in the full E-trisomy syndrome. ImagesFig. 4Fig. 5Fig. 6 PMID:20327419

  13. Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

    PubMed Central

    Lee, Sung Won; Kwak, Dong Shin; Jung, In Sub; Kwak, Joo Hee; Park, Jung Hwan; Hong, Sang Mo; Lee, Chang Bum; Park, Yong Soo; Kim, Dong Sun; Choi, Woong Hwan

    2015-01-01

    Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation. PMID:25433660

  14. Tetralogy of Fallot associated with deletion in the DiGeorge region of chromosome 22 (22q11)

    SciTech Connect

    D`Angelo, J.A.; Pillers, D.M.; Jett, P.L.

    1994-09-01

    Cardiac conotruncal defects, such as Tetralogy of Fallot (TOF), are associated with DiGeorge syndrome which has been mapped to the q11 region of chromosome 22 and includes abnormalities of neural crest and branchial arch development. Patients with conotruncal defects and velo-cardio-facial syndrome may have defects in the 22q11 region but not show the complete DiGeorge phenotype consisting of cardiac, thymus, and parathyroid abnormalities. We report two neonates with TOF and small deletions in the DiGeorge region of chromosome 22 (46,XX,del(22)(q11.21q11.23) and 46,XY,del(22)(q11.2q11.2)) using both high-resolution cytogenetics and fluorescence in situ hybridization (FISH). The first patient is a female with TOF and a family history of congenital heart disease. The mother has pulmonic stenosis and a right-sided aortic arch, one brother has TOF, and a second brother has a large VSD. The patient had intrauterine growth retardation and had thrombocytopenia due to maternal IgG platelet-directed autoantibody. Lymphocyte populations, both T and B cells, were reduced in number but responded normally to stimulation. The findings were not attributed to a DiGeorge phenotype. Although she had transient neonatal hypocalcemia, her parathyroid hormone level was normal. The patient was not dysmorphic in the newborn period but her mother had features consistent with velo-cardio-facial syndrome. The second patient was a male with TOF who was not dysmorphic and had no other significant clinical findings and no family history of heart disease. Lymphocyte testing did not reveal a specific immunodeficiency. No significant postnatal hypocalcemia was noted. These cases illustrate that there is a wide spectrum of clinical features associated with defects of the 22q11 region. We recommend karyotype analysis, including FISH probes specific to the DiGeorge region, in any patient with conotruncal cardiac defects.

  15. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  16. Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases

    PubMed Central

    Desmaze, C.; Prieur, M.; Amblard, F.; Aïkem, M.; LeDeist, F.; Demczuk, S.; Zucman, J.; Plougastel, B.; Delattre, O.; Croquette, M.-F.; Brevière, G.-M.; Huon, C.; Le Merrer, M.; Mathieu, M.; Sidi, D.; Stephan, J.-L.; Aurias, A.

    1993-01-01

    We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease. ImagesFigure 1Figure 3Figure 2Figure 4 PMID:8250039

  17. Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases

    SciTech Connect

    Desmaze, C.; Aikem, M.; Demczuk, S.; Zucman, J.; Plougastel, B.; Delattre, O.; Aurias, A. ); Prieur, M. ); Amblard, F. ); LeDeist, F. ); Croquette, M.F. ); Breviere, G.M. ); Huon, C. ); Le Merrer, M. ); Mathieu, M. ); Sidi, D. ); Stephan, J.L. )

    1993-12-01

    The authors describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease. 42 refs., 7 figs., 1 tab.

  18. Rehabilitation of a patient with non-syndromic partial oligodontia

    PubMed Central

    2016-01-01

    Oligodontia is defined as a congenital tooth agenesis with the absence of six or more permanent teeth. This clinical report describes a patient with non-syndromic partial oligodontia, with retained deciduous teeth and the absence of 16 permanent teeth. Anterior esthetic problems were caused by interarch tooth size discrepancy, interdental space, aberrant tooth dimensions, and the absence of centric contacts of the anterior teeth. Prosthetic restoration after orthodontic and implant treatment was performed with a multi-disciplinary team approach. Favorable functional and esthetic results were obtained using a definitive prosthesis. PMID:27350861

  19. Partial Kluver-Bucy syndrome secondary to tubercular meningitis.

    PubMed

    Jha, Kunal Kishor; Singh, Satyajeet Kumar; Kumar, Prem; Arora, Charu Dutt

    2016-01-01

    Tubercular meningitis (TBM) is a devastating extra pulmonary manifestation of tuberculosis and demonstrates a high neurological morbidity. A rare complication of this condition is Kluver-Bucy syndrome (KBS), which is a neurobehavioral disorder characterised by hyper-sexuality, visual agnosia, bulimia, placidity, hyperorality and memory deficits caused by lesions to the amygdala. The amygdala lesions can be due to many causes, including traumatic brain injury, systemic conditions and infections such as tuberculosis. Here, we present a case of partial KBS in a patient undergoing treatment for TBM. PMID:27530874

  20. Bilateral Anterior Opercular Syndrome With Partial Kluver–Bucy Syndrome in a Stroke Patient: A Case Report

    PubMed Central

    2016-01-01

    Bilateral anterior opercular syndrome and partial Kluver–Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver–Bucy syndrome. PMID:27446793

  1. Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report.

    PubMed

    Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

    2016-06-01

    Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome. PMID:27446793

  2. Partial response to cyclosporine in a patient with Schnitzler's syndrome.

    PubMed

    Carbone, J; Paravisini, A; Sarmiento, E; Rodríguez-Molina, J; Fernández-Cruz, E

    2007-01-01

    Schnitzler's syndrome is an unusual clinical association of chronic urticaria, intermittent fever and monoclonal immunoglobulin M (IgM) gammopathy. The pathogenesis of the urticaria is unclear and treatment is problematic. We describe the case of a 61-year-old woman with a long history of chronic urticaria with severe pruritus, spiking fever and malaise. The IgM-kappa monoclonal component was detected in the patient's serum 4 years after symptom onset. After ineffective treatment with antihistamines and systemic corticosteroids, oral cyclosporine resulted in complete remission of the fever and malaise, which has persisted after an 18-month follow-up. Partial but maintained remission of the urticaria was also observed, allowing corticosteroid doses to be decreased. PMID:17428403

  3. Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome

    PubMed Central

    Feng, Shuju; Eyler, Stephen J.; Zhang, Yuzhou; Maga, Tara; Nester, Carla M.; Kroll, Michael H.

    2013-01-01

    Complement dysregulation leads to atypical hemolytic uremic syndrome (aHUS), while ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura. We investigated whether genetic variations in the ADAMTS13 gene partially explain the reduced activity known to occur in some patients with aHUS. We measured complement activity and ADAMTS13 function, and completed mutation screening of multiple complement genes and ADAMTS13 in a large cohort of aHUS patients. In over 50% of patients we identified complement gene mutations. Surprisingly, 80% of patients also carried at least 1 nonsynonymous change in ADAMTS13, and in 38% of patients, multiple ADAMTS13 variations were found. Six of the 9 amino acid substitutions in ADAMTS13 were common single nucleotide polymorphisms; however, 3 variants—A747V, V832M, and R1096H— were rare, with minor allele frequencies of 0.0094%, 0.5%, and 0.32%, respectively. Reduced complement and ADAMTS13 activity (<60% of normal activity) were found in over 60% and 50% of patients, respectively. We concluded that partial ADAMTS13 deficiency is a common finding in aHUS patients and that genetic screening and functional tests of ADAMTS13 should be considered in these patients. PMID:23847193

  4. Velo-Cardio-Facial Syndrome: 30 Years of Study

    ERIC Educational Resources Information Center

    Shprintzen, Robert J.

    2008-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlackova syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an…

  5. DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects

    PubMed Central

    Gao, Wenming; Higaki, Takashi; Eguchi-Ishimae, Minenori; Iwabuki, Hidehiko; Wu, Zhouying; Yamamoto, Eiichi; Takata, Hidemi; Ohta, Masaaki; Imoto, Issei; Ishii, Eiichi; Eguchi, Mariko

    2015-01-01

    Cardiac anomaly is one of the hallmarks of DiGeorge syndrome (DGS), observed in approximately 80% of patients. It often shows a characteristic morphology, termed as conotruncal heart defects. In many cases showing only the conotruncal heart defect, deletion of 22q11.2 region cannot be detected by fluorescence in situ hybridization (FISH), which is used to detect deletion in DGS. We investigated the presence of genomic aberrations in six patients with congenital conotruncal heart defects, who show no deletion at 22q11.2 in an initial screening by FISH. In these patients, no abnormalities were identified in the coding region of the TBX1 gene, one of the key genes responsible for the phenotype of DGS. However, when copy number alteration was analyzed by high-resolution array analysis, a small deletion or duplication in the proximal end of DiGeorge critical region was detected in two patients. The affected region contains the DGCR6 and PRODH genes. DGCR6 has been reported to affect the expression of the TBX1 gene. Our results suggest that altered dosage of gene(s) other than TBX1, possibly DGCR6, may also be responsible for the development of conotruncal heart defects observed in patients with DGS and, in particular, in those with stand-alone conotruncal heart defects. PMID:27081520

  6. Carpal tunnel syndrome, syndrome of partial thenar atrophy, and W. Russell Brain: a historical perspective.

    PubMed

    Boskovski, Marko T; Thomson, J Grant

    2014-09-01

    This article presents the history of the discovery of compression of the median nerve in the carpal tunnel without an identifiable cause as a distinct clinical entity. By analyzing primary sources, we show that, at the beginning of the twentieth century, physicians described patients with paresthesias and numbness in the hands, most prominent at night, accompanied by bilateral symmetrical atrophy along the radial side of thenar eminence. At the time, the 2 most influential hypotheses regarding etiology were, first, compression of the lower trunk of the brachial plexus by a cervical or first rib, and second, compression of the thenar branch of the median nerve as it passes beneath the anterior annular ligament of the wrist. The condition was named syndrome of partial thenar atrophy and was considered a distinct clinical entity. In 1946, after extensive analysis, neurologist Walter Russell Brain concluded that both sensory and motor symptoms of the syndrome were caused by "compression neuritis" of the median nerve in the carpal tunnel. At his suggestion, surgeon Arthur Dickson Wright performed decompression of the nerve by "an incision of the carpal ligament," with excellent results. Brain presented this work at the Royal Society of Medicine in London in 1946 and published his landmark paper in Lancet the following year. In so doing, he established the basis for the disease we know today as idiopathic carpal tunnel syndrome. Unfortunately, in 1947, Brain did not realize that another "condition" with the same clinical picture but without atrophy of the thenar muscles, known as acroparesthesia at the time, was actually the same disease as syndrome of partial thenar atrophy, but of lesser severity. As a result of Brain's influence, 7 other papers were published by 1950. Between 1946 and 1950, there were at least 10 papers that presented, in total, 31 patients (26 women) who exhibited symptoms of compression of the median nerve without an identifiable cause and underwent

  7. Idiopathic thromobocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?

    SciTech Connect

    Levy, A.; Philip, N.; Michel, G.

    1997-04-14

    The phenotypic spectrum caused by the microdeletion of chromosome 22q11 region is known to be variable. Nearly all patients with DiGeorge sequence (DGS) and approximately 60% of patients with velocardiofacial syndrome exhibit the deletion. Recent papers have reported various congenital defects in patients with 22q11 deletions. Conversely, some patients have minimal clinical expression. Ten to 25% of parents of patients with DGS exhibit the deletion and are nearly asymptomatic. Two female patients carrying a 22q11 microdeletion and presenting with idiopathic thrombocytopenic purpura are reported. Both had children with typical manifestations of DGS. 12 refs., 4 figs., 1 tab.

  8. Psychosis in Apert's syndrome with partial agenesis of the corpus callosum.

    PubMed Central

    Gupta, S; Popli, A

    1995-01-01

    A 19-year-old male with Apert's syndrome developed psychotic symptoms that responded to haloperidol. He was also found to have partial agenesis of the corpus callosum and enlarged lateral ventricles on a head CT scan. The implications of these findings in the context of psychotic symptoms are discussed. There are no previous reports of psychosis in patients with Apert's syndrome. PMID:7647085

  9. Serum metabolite profiles of postoperative fatigue syndrome in rat following partial hepatectomy.

    PubMed

    Lu, Ye; Yang, Rui; Jiang, Xin; Yang, Yajuan; Peng, Fei; Yuan, Hongbin

    2016-05-01

    Postoperative fatigue syndrome is a general complication after surgery. However, there is no ''gold standard'' for fatigue assessment due to the lack of objective biomarkers. In this study, a rodent model of postoperative fatigue syndrome based on partial hepatectomy was firstly established and serum metabonomic method based on ultra-high performance liquid chromatography coupled with Q-TOF mass spectrometry was applied. Partial least-squares discriminant analysis was used to identify the differential metabolites in 70% partial hepatectomy rats relative to sham rats and 30% partial hepatectomy rats, which showed 70% partial hepatectomy group was significantly distinguishable from 30% partial hepatectomy group and sham group. Eighteen serum metabolites responsible for the discrimination were identified. The levels of hypoxanthine, kynurenine, tryptophan, uric acid, phenylalanine, palmitic acid, arachidonic acid and oleic acid showed progressive elevation from sham group to 30% partial hepatectomy group to 70% partial hepatectomy group, and levels of valine, tyrosine, isoleucine, linoleyl carnitine, palmitoylcarnitine, lysophosphatidylcholine (16:0), lysophosphatidylcholine (20:3), citric acid, succinic acid and hippuric acid showed progressive declining trend from sham group to 30% partial hepatectomy group to 70% partial hepatectomy group. These potential biomarkers help to understand of etiology, pathophysiology and treatment of postoperative fatigue syndrome. PMID:27257346

  10. Serum metabolite profiles of postoperative fatigue syndrome in rat following partial hepatectomy

    PubMed Central

    Lu, Ye; Yang, Rui; Jiang, Xin; Yang, Yajuan; Peng, Fei; Yuan, Hongbin

    2016-01-01

    Postoperative fatigue syndrome is a general complication after surgery. However, there is no ‘‘gold standard’’ for fatigue assessment due to the lack of objective biomarkers. In this study, a rodent model of postoperative fatigue syndrome based on partial hepatectomy was firstly established and serum metabonomic method based on ultra-high performance liquid chromatography coupled with Q-TOF mass spectrometry was applied. Partial least-squares discriminant analysis was used to identify the differential metabolites in 70% partial hepatectomy rats relative to sham rats and 30% partial hepatectomy rats, which showed 70% partial hepatectomy group was significantly distinguishable from 30% partial hepatectomy group and sham group. Eighteen serum metabolites responsible for the discrimination were identified. The levels of hypoxanthine, kynurenine, tryptophan, uric acid, phenylalanine, palmitic acid, arachidonic acid and oleic acid showed progressive elevation from sham group to 30% partial hepatectomy group to 70% partial hepatectomy group, and levels of valine, tyrosine, isoleucine, linoleyl carnitine, palmitoylcarnitine, lysophosphatidylcholine (16:0), lysophosphatidylcholine (20:3), citric acid, succinic acid and hippuric acid showed progressive declining trend from sham group to 30% partial hepatectomy group to 70% partial hepatectomy group. These potential biomarkers help to understand of etiology, pathophysiology and treatment of postoperative fatigue syndrome. PMID:27257346

  11. HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

    PubMed Central

    Sepahi, Mohsen Akhavan; Baraty, Behrouz; Shooshtary, Fatemeh Khalifeh

    2010-01-01

    Background HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion. Case Presentation Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome. PMID:23056694

  12. A Case of Hyperventilation Syndrome Mimicking Complex Partial Seizure: Usefulness of EEG Monitoring in Emergency Department

    PubMed Central

    Kang, Bong Su

    2015-01-01

    Acute hyperventilation syndrome not only can be clinically misdiagnosed as epileptic seizures, but also complex partial seizures may involve hyperventilation as a part of aura. Although electrography (EEG) monitoring is one of the most important procedure to differentiate these conditions, it could not be widely used in emergency department. Variety forms of epileptic attack, mainly idiopathic generalized epilepsy, are provoked by voluntary hyperventilation. In contrast, it is not clear whether hyperventilation can activate the partial seizures. We reported a case of acute hyperventilation syndrome (HSV) mimicking first onset complex partial seizure, impending non-convulsive status epilepticus, which was diagnosed by EEG in the emergency department. The electrographic seizure was provoked again by voluntary hyperventilation after clinical improvement. PMID:26157670

  13. Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?

    PubMed Central

    Iyer, Rajesh Shankar; Thanikasalam; Krishnan, Mugundhan

    2014-01-01

    Migrating partial seizures in infancy (MPSI) is a rare epilepsy syndrome with poor prognosis. The exact etiology of MPSI is still not known. We report a 14-month-old baby with 47XYY karyotype who presented with developmental delay and drug-refractory seizures satisfying the diagnostic criteria for MPSI and discuss the possible association between the 47XYY karyotype and this syndrome. The excess of genes due to an additional Y chromosome could cause disturbance in various stages of formation, migration, or differentiation of neurons. Depending on the degree of disturbance and the resultant cortical excitability, this could result in various epilepsy syndromes. We feel that this association is more likely causal than coincidental. Chromosome studies need to be performed in more individuals with atypical and uncommon epilepsies. Multicenter studies are required to establish the association between epilepsy syndrome and these rare chromosome disorders. PMID:25667867

  14. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    PubMed

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome. PMID:25933462

  15. Narrowing the DiGeorge Region (DGCR) using DGS-VCFS associated translocation breakpoints

    SciTech Connect

    Li, M.; Budarf, M.L.; Sellinger, B.

    1994-09-01

    The initial evidence linking 22q11 with DiGeorge syndrome (DGS) came from identification of DGS patients with unbalanced translocations resulting in loss of 22pter{r_arrow}q11. Molecular detection of 22q11.2 deletions in over 85% of our DGS and VCFS patient population confirms the role of 22q11 haploinsufficiency in the etiology of these two disorders. In the present study, DGS/VCFS-associated translocations are used to further refine the DGS minimal critical region. We obtained previously described cell lines: GM5878 [t(10;22)], GM5401 [t(4;22)], GM0980 [t(11;22)], and LGL6012 [t(20;22)]. Lymphoblastoid cell lines were established from two new unbalanced translocations, [t(15;22)(p11;q11)] and [t(12;22)(p13.31;q11.2)] and from a family with balanced and unbalanced forms of a t(X;22)(p22.31;q11). All probands are missing 22pter{r_arrow}q11 and have mild dysmorphia, short stature, frequent infections and developmental delay. Cleft palate was also seen in the two sibs resulting from malsegregation of the t(X;22)mat. These seven breakpoints were positioned by FISH utilizing cosmids from 22q11.2. The cosmids include the loci D22S75 (N25), D22S66 (160b), and D22S259 (R32) which we have previously used to define the DGS/VCFS commonly deleted region. The t(12;22) and t(20;22) breakpoints map distal to R32. Four translocation breakpoints map between N25 and R32: CEN - N25 - t(15;22) - t(11;22) - t(10;22) - 160b - t(4;22) - R32 - TEL. The t(X;22) breakpoint lies between the proximal flanking locus D22S36 (pH11) and N25, suggesting that genes critical to the phenotype may lie between these markers. However, the der(X) is inactivated in both sibs, raising the possibility that spreading of inactivation to the translocated, 22-derived segment may silence gene(s) distal to the breakpoint. Thus, the DGCR has been narrowed to a region between D22S36 and the t(15;22) breakpoint. This enables us to narrow the search for the critical gene(s) deleted in patients with DGS and VCFS.

  16. Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

    PubMed Central

    2013-01-01

    Background Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. Methods We analysed the clinical and biological features of two women, aged 32 and 36, referred for partial lipodystrophic syndrome which led to the molecular diagnosis of Werner syndrome. Cultured skin fibroblasts from one patient were studied. Results Two normal-weighted women presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them had also diabetes. Both patients showed a peculiar, striking lipodystrophic phenotype with subcutaneous lipoatrophy of the four limbs contrasting with truncal and abdominal fat accumulation. Their oral glucose tolerance tests showed extremely high levels of insulinemia, revealing major insulin resistance. Low serum levels of sex-hormone binding globulin and adiponectin suggested a post-receptor insulin signalling defect. Other clinical features included bilateral cataracts, greying hair and distal skin atrophy. We observed biallelic WRN null mutations in both women (p.Q748X homozygous, and compound heterozygous p.Q1257X/p.M1329fs). Their fertility was decreased, with preserved menstrual cycles and normal follicle-stimulating hormone levels ruling out premature ovarian failure. However undetectable anti-müllerian hormone and inhibin B indicated diminished follicular ovarian reserve. Insulin-resistance linked ovarian hyperandrogenism could also contribute to decreased fertility, and the two patients became pregnant after initiation of insulin-sensitizers (metformin). Both pregnancies were complicated by severe cervical incompetence, leading to the preterm birth of a healthy newborn in one case, but to a

  17. Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

    PubMed Central

    Köbberling, J; Dunnigan, M G

    1986-01-01

    Familial lipodystrophy (referred to in publications as the Köbberling-Dunnigan syndrome) comprises at least two clinical phenotypes which are consistent within each pedigree. In type 1 familial lipodystrophy, loss of subcutaneous fat is confined to the limbs, sparing the face and trunk. In type 2 familial lipodystrophy, the trunk is also affected with the exception of the vulva, giving an appearance of labial hypertrophy. Diabetes mellitus, hyperlipoproteinaemia, and acanthosis nigricans are present to a variable degree in some but not all patients with familial lipodystrophy, and the abnormal distribution of subcutaneous fat is the essential hallmark of the syndrome. In addition to a survey of published reports, new cases with the syndrome are described. Both types of partial lipodystrophy, occurring either as familial disease or as sporadic cases, have only been observed in female patients. Study of the pedigrees of five families with familial lipodystrophy (two Scottish and three German) suggests an X linked dominant mode of transmission, lethal in the hemizygous (XY) state. The two clinical phenotypes with their variably expressive metabolic abnormalities are consistent either with different mutants of the same allele or with two genes on adjacent loci. Other clinical phenotypes of familial lipodystrophy may exist due to further mutations of the same allele or of genes on adjacent loci. The nature of the disorder in patients with familial lipodystrophy usually escapes recognition for many years and the syndrome is almost certainly much commoner than the few families described to date suggest. Images PMID:3712389

  18. Partial trisomy 16p in an adolescent with autistic disorder and Tourette`s syndrome

    SciTech Connect

    Hebebrand, J.; Martin, M.; Remschmidt, H.

    1994-09-15

    A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette`s syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder. 21 refs.

  19. Auxiliary partial orthotopic liver transplant for Criggler-Najjar Syndrome: Report of 2 cases from Pakistan.

    PubMed

    Dar, Faisal Saud; Bhatti, Abu Bakar Hafeez; Hashmi, Syeda Shaheera; Zia, Haseeb; Malik, Munir Iqbal

    2016-05-01

    Auxiliary partial orthotopic liver transplant (APOLT) is a treatment option for certain liver disorders where liver structure is preserved. It includes Criggler Najjar syndrome (CNS), urea cycle defects and familial hypercholesterolaemia. Liver transplant as a treatment modality has only recently become available in Pakistan. Here we report two paediatric cases of CNS type 1 where auxiliary liver transplant was performed to correct jaundice and prevent inevitable brain damage. Both recipients and their respective living donors had successful surgery and are doing well. PMID:27183949

  20. Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor.

    PubMed

    H'mida Ben-Brahim, Dorra; Hammami, Sabeur; Haddaji Mastouri, Marwa; Trabelsi, Saoussen; Chourabi, Maroua; Sassi, Sihem; Mougou, Soumaya; Gribaa, Moez; Zakhama, Abdelfattah; Guédiche, Mohamed Neji; Saad, Ali

    2015-03-01

    Beckwith-Wiedemann syndrome has a wide spectrum of complications such as embryonal tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging manifestations of this syndrome. A 45-day old female with a family history of adrenocortical tumor presented with adrenocortical tumor. The case raised suspicion of a hereditary Beckwith-Wiedemann syndrome, therefore molecular analysis was undertaken. The results revealed partial KCNQ1OT1 hypomethylation in the infant's blood DNA which was associated with a complete loss of methylation in the infant's adrenocortical tumor tissue. It is unique for familial Beckwith-Wiedemann syndrome caused by KCNQ1OT1 partial hypomethylation to manifest solely through adrenocortical tumor. Incomplete penetrance and specific tissue mosaicism could provide explanations to this novel hereditary Beckwith-Wiedemann syndrome presentation. PMID:26937341

  1. Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study.

    PubMed

    Doose, H; Hahn, A; Neubauer, B A; Pistohl, J; Stephani, U

    2001-02-01

    Atypical benign partial epilepsy of childhood (ABPE = Pseudo-Lennox syndrome) shows semiologic parallels to Lennox-Gastaut syndrome, however--besides the lack of tonic seizures--it has an entirely different etiology and prognosis. Recently Hahn et al [17] investigated the long-term evolution of 43 cases with ABPE. Symptomatology, EEG findings, and course were found to overlap with Rolandic epilepsy, Landau-Kleffner syndrome and ESES. The incidence of seizures in relatives was determined in the whole series investigated by Hahn et al [17]. Five of 56 siblings suffered from seizures (3 Rolandic seizures; one febrile convulsions; one unclassified). Three fathers reported grand mal. In 29 families of the series of Hahn et al EEG recordings were performed: 22 brothers, 19 sisters and 16 pairs of parents. In 29% of the siblings a sharp wave focus was demonstrable. The rate rose to 40% when only siblings investigated at the age of maximum expression (3 to 10 years) were considered. Sharp wave foci were mostly multifocal and indistinguishable from those observed in siblings of children with Rolandic epilepsy. Photoparoxysmal response and generalized spikes and waves during rest and hyperventilation were also found to be significantly elevated (26% and 13% respectively). We conclude that ABPE is a subgroup of idiopathic partial epilepsy of childhood (representing a less benign part of a spectrum) that has to be ranked in a continuum with Rolandic epilepsy. The different clinical phenotype might be caused by a higher expressivity of the identical genetic trait, possibly facilitated by other genetic or acquired factors. Genetic heterogeneity represents another possibility. PMID:11315204

  2. Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection.

    PubMed

    Ghatak, Tanmoy; Samanta, Sukhen; Samanta, Sujoy

    2013-10-01

    Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation. We describe the anesthetic management of a patient with Marfan syndrome with severe aortic root dilation, who required major surgery like cholecystectomy with partial liver resection under general anesthesia. A 47-year-old female presented to pre-anesthetic clinic for cholecystectomy with partial hepatic resection for gall bladder carcinoma. Clinical features, transthoracic echocardiography and computed tomography of thorax supported a diagnosis of Marfan syndrome with severely dilated aortic root. Aortic dissection in patients with Marfan syndrome and severely dilated aortic root can be precipitated by major hemodynamic changes under anesthesia. Careful hemodynamic monitoring and avoidance of hemodynamic swings can prevent this life-threatening event. PMID:24348301

  3. Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.

    PubMed Central

    Zabel, B; Baumann, W; Gehler, J; Conrad, G

    1978-01-01

    We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature. The possibility of delineating a 5p- and a 5q-partial-trisomy syndrome is discussed. Images PMID:641949

  4. A Case of Purple Urine Bag Syndrome in a Spastic Partial Quadriplegic Male

    PubMed Central

    Khan, Salman; Dave, Atman; Morrison, Amelia Jane A; Jain, Swapna; Hermanns, David

    2016-01-01

    Purple bag urine syndrome (PUBS) is a benign and unique phenomenon of the urine turning a deep violet color within the urinary catheter tubing and bag. This phenomenon is commonly encountered in patients indicated with long-term catheter placement or, in certain conditions like chronic constipation, alkaline urine, limited ambulation, and, in terms of gender distribution, the female sex, predominates. PUBS gets its name from a unique phenomenon that takes places inside the gut where tryptophan (an amino acid) is metabolized, producing blue and red hues which together emanate a deep violet color. Here, the case of a middle-aged male patient with a suprapubic catheter in situ, following trauma causing spastic partial quadriplegia, is being presented with PUBS due to UTI secondary to Proteus vulgaris. The risk factors, in this case, include chronic constipation and recurrent urinary tract infections (UTIs).​ PMID:27182466

  5. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

    PubMed

    Valera Yepes, Rocío; Virgili Casas, Maria; Povedano Panades, Monica; Guerrero Gual, Mireia; Villabona Artero, Carles

    2015-05-01

    Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene. PMID:25857692

  6. Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture.

    PubMed

    Joseph, Angela Ann; Shabir, Iram; Marumadi, Eunice; Dada, Reema; Ammini, Ariachery C; Mehta, Manju

    2013-01-01

    There are few reports of adults with disorders of sexual development (DSD). Here we describe the clinical profile and results of psychological assessment of three siblings with 46, XY DSD caused by partial androgen insensitivity syndrome (PAIS). The elder sibling (aged 22 years) was reared as female, while the middle and youngest siblings (17 and 18 years of age), were reared as males. The gender identity was concordant with the sex of rearing. There was no gender dysphoria. The psychological distress that our patients experienced was due to the limitations placed on them by their medical condition. It did not permit them to experience various facets of being either male or female completely. The younger siblings reared as males had additional problems of gynecomastia and lack of male secondary sexual development. PMID:23729553

  7. Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide.

    PubMed

    Itakura, Ayako; Saito, Yoshiaki; Nishimura, Yoko; Okazaki, Tetsuya; Ohno, Koyo; Sejima, Hitoshi; Yamamoto, Toshiyuki; Maegaki, Yoshihiro

    2016-08-01

    A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions. Genetic analysis was conducted based on the characteristic facial appearance of the patient, which identified a 2.1-Mb terminal deletion on chromosome 4p. This is the first case of Wolf-Hirschhorn syndrome complicated by epilepsy with migrating partial seizures. PMID:26797656

  8. Adapting SugarWatch to Manage Metabolic Syndrome in a Partial Hospitalization Program: A Feasibility Study

    PubMed Central

    Clute, Rose

    2015-01-01

    A successful worksite diabetes prevention program, SugarWatch,was adapted for a seriously mentally ill patient population in a partial hospitalization program in Hawai‘i. A feasibility study was implemented using an intervention with 3 components:SugarWatch curriculum, structured physical activity,and Create a Plate lunch. Twenty participants completed the three month intervention. Only systolic blood pressure showed statistically significant improvement. However, trends in improvement were also seen with diastolic blood pressure and total cholesterol. Despite minimal improvement in physiological measures, the project changed practice in the setting to align with the 2004 American Diabetes Association and American Psychiatric Association Guidelines for the prevention of metabolic syndrome and better management of patients taking second generation antipsychotic medications. PMID:25821649

  9. A Case of Purple Urine Bag Syndrome in a Spastic Partial Quadriplegic Male.

    PubMed

    Tul Llah, Sibghat; Khan, Salman; Dave, Atman; Morrison, Amelia Jane A; Jain, Swapna; Hermanns, David

    2016-01-01

    Purple bag urine syndrome (PUBS) is a benign and unique phenomenon of the urine turning a deep violet color within the urinary catheter tubing and bag. This phenomenon is commonly encountered in patients indicated with long-term catheter placement or, in certain conditions like chronic constipation, alkaline urine, limited ambulation, and, in terms of gender distribution, the female sex, predominates. PUBS gets its name from a unique phenomenon that takes places inside the gut where tryptophan (an amino acid) is metabolized, producing blue and red hues which together emanate a deep violet color. Here, the case of a middle-aged male patient with a suprapubic catheter in situ, following trauma causing spastic partial quadriplegia, is being presented with PUBS due to UTI secondary to Proteus vulgaris. The risk factors, in this case, include chronic constipation and recurrent urinary tract infections (UTIs).​. PMID:27182466

  10. Concealed long QT syndrome and intractable partial epilepsy: a case report.

    PubMed

    Anderson, Jason H; Bos, Johan Martijn; Meyer, Fredric B; Cascino, Gregory D; Ackerman, Michael J

    2012-11-01

    Herein, we describe a patient with concealed type 2 long QT syndrome with concomitant electroencephalogram-documented epilepsy. Although syncope in patients with long QT syndrome is common and often secondary to cerebral hypoxia after a protracted ventricular arrhythmia, this article demonstrates the importance of avoiding "tunnel vision" as patients with long QT syndrome could also have a primary seizure disorder. Identification of the etiology underlying seizurelike activity is paramount in instituting effective therapy. Furthermore, we theorize that abnormal KCHN2-encoded potassium channel repolarization in the brain could result in epilepsy and arrhythmias in long QT syndrome. PMID:23058853

  11. Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.

    PubMed

    Kurtovic-Kozaric, Amina; Mehinovic, Lejla; Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Catibusic, Feriha; Kozaric, Mirza; Mesihovic-Dinarevic, Senka; Hasanhodzic, Mensuda; Glamuzina, Darinka

    2016-01-01

    Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period. Based on the positive FISH results for each syndrome, the incidence was calculated for the Federation of Bosnia and Herzegovina. These are the first reported frequencies of the microdeletion syndromes in the Federation of Bosnia and Herzegovina. PMID:26937776

  12. Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: Single center experience in a developing country

    PubMed Central

    Kurtovic-Kozaric, Amina; Mehinovic, Lejla; Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Catibusic, Feriha; Kozaric, Mirza; Dinarevic, Senka Mesihovic; Hasanhodzic, Mensuda; Sumanovic-Glamuzina, Darinka

    2016-01-01

    Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period. Based on the positive FISH results for each syndrome, the incidence was calculated for the Federation of Bosnia and Herzegovina. These are the first reported frequencies of the microdeletion syndromes in the Federation of Bosnia and Herzegovina. PMID:26937776

  13. Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

    PubMed Central

    Kalfa, Nicolas; Philibert, Pascal; Werner, Ralf; Audran, Françoise; Bashamboo, Anu; Lehors, Hélène; Haddad, Myriam; Guys, Jean Michel; Reynaud, Rachel; Alessandrini, Pierre; Wagner, Kathy; Kurzenne, Jean Yves; Bastiani, Florence; Bréaud, Jean; Valla, Jean Stéphane; Lacombe, Gérard Morisson; Orsini, Mattea; Daures, Jean-Pierre; Hiort, Olaf; Paris, Françoise; McElreavey, Kenneth; Sultan, Charles

    2013-01-01

    Background Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS). Objective The aim of this study was to determine whether even the most minor forms of isolated hypospadias are associated with AR mutations and thus whether all types of hypospadias warrant molecular analysis of the AR. Materials and Methods Two hundred and ninety-two Caucasian children presenting with isolated hypospadias without micropenis or cryptorchidism and 345 controls were included prospectively. Mutational analysis of the AR through direct sequencing (exons 1–8) was performed. In silico and luciferase functional assays were performed for unreported variants. Results Five missense mutations of the AR were identified in 9 patients with glandular or penile anterior (n = 5), penile midshaft (n = 2) and penile posterior (n = 2) hypospadias, i.e., 3%: p.Q58L (c.173A>T), 4 cases of p.P392S (c.1174C>T), 2 cases of p.A475V (c.1424C>T), p.D551H (c.1651G>C) and p.Q799E (c.2395C>G). None of these mutations was present in the control group. One mutation has never been reported to date (p.D551H). It was predicted to be damaging based on 6 in silico models, and in vitro functional studies confirmed the lowered transactivation function of the mutated protein. Three mutations have never been reported in patients with genital malformation but only in isolated infertility: p.Q58L, p.P392S, and p.A475V. It is notable that micropenis, a cardinal sign of AIS, was not present in any patient. Conclusion AR mutations may play a role in the cause of isolated hypospadias, even in the most minor forms. Identification of this underlying genetic alteration may be important for proper diagnosis and longer follow-up is necessary to find out if the mutations cause

  14. l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome

    PubMed Central

    Xu, Baoshan; Sowa, Nenja; Cardenas, Maria E.; Gerton, Jennifer L.

    2015-01-01

    Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show that phosphorylation of RPS6 as well as 4E-binding protein 1 (4EBP1) was reduced in nipbla/b, rad21 and smc3-morphant embryos, a pattern indicating reduced translation. Moreover, protein biosynthesis and rRNA production were decreased in the cohesin morphant embryo cells. l-leucine partly rescued protein synthesis and rRNA production in the cohesin morphants and partially restored phosphorylation of RPS6 and 4EBP1. Concomitantly, l-leucine treatment partially improved cohesinopathy embryo development including the formation of craniofacial cartilage. Interestingly, we observed that alpha-ketoisocaproate (α-KIC), which is a keto derivative of leucine, also partially rescued the development of rad21 and nipbla/b morphants by boosting mTOR-dependent translation. In summary, our results suggest that cohesinopathies are caused in part by defective protein synthesis, and stimulation of the mTOR pathway through l-leucine or its metabolite α-KIC can partially rescue development in zebrafish models for CdLS. PMID:25378554

  15. L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.

    PubMed

    Xu, Baoshan; Sowa, Nenja; Cardenas, Maria E; Gerton, Jennifer L

    2015-03-15

    Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show that phosphorylation of RPS6 as well as 4E-binding protein 1 (4EBP1) was reduced in nipbla/b, rad21 and smc3-morphant embryos, a pattern indicating reduced translation. Moreover, protein biosynthesis and rRNA production were decreased in the cohesin morphant embryo cells. l-leucine partly rescued protein synthesis and rRNA production in the cohesin morphants and partially restored phosphorylation of RPS6 and 4EBP1. Concomitantly, l-leucine treatment partially improved cohesinopathy embryo development including the formation of craniofacial cartilage. Interestingly, we observed that alpha-ketoisocaproate (α-KIC), which is a keto derivative of leucine, also partially rescued the development of rad21 and nipbla/b morphants by boosting mTOR-dependent translation. In summary, our results suggest that cohesinopathies are caused in part by defective protein synthesis, and stimulation of the mTOR pathway through l-leucine or its metabolite α-KIC can partially rescue development in zebrafish models for CdLS. PMID:25378554

  16. The syndrome of delayed posthemiplegic hemidystonia, hemiatrophy, and partial seizure: clinical, neuroimaging, and motor-evoked potential studies.

    PubMed

    Thajeb, P

    1996-08-01

    Magnetic motor-evoked potential (MEP) study of patients with the syndrome of delayed posthemiplegic hemidystonia, hemiatrophy, and partial or hemi-seizures ('4-hemi' syndrome) has not been described. Among 35 patients investigated for posthemiplegic movement disorders from February 1988 to January 1995, seven showed '4-hemi' syndrome. Clinical work-up, magnetic resonance images (MRI) and/or computed tomography (CT) were performed in all. Transcranial MEP studies were done in five patients. The remote causes of '4-hemi' syndrome were neonatal stroke, trauma, and encephalitis in infancy. The dystonia may occur as long as a decade after the initial insult. MRI or CT showed destructive lesion in the contralateral putamen (five patients), caudate (four), thalamus (five), and atrophy of the contralateral hemisphere (five). Other associations were porencephalic cyst. Wallerian degeneration, and asymmetric compensatory ventriculomegaly. MEP showed abnormalities in the affected upper limbs in four of five patients. The abnormalities were reduced amplitude of the compound muscle action potential following cortical stimulations with or without temporal dispersion, and with or without prolongation of its latency. The peripheral motor conductions following cervical stimulations were normal. MEP abnormalities may not be related to the hemiatrophy and the size of brain lesion per se. The hemidystonia is static after the second decade of life, and it is often difficult to treat. PMID:8884090

  17. Structure of the dimerization domain of DiGeorge critical region 8

    SciTech Connect

    Senturia, R.; Faller, M.; Yin, S.; Loo, J.A.; Cascio, D.; Sawaya, M.R.; Hwang, D.; Clubb, R.T.; Guo, F.

    2010-09-27

    Maturation of microRNAs (miRNAs, {approx}22nt) from long primary transcripts [primary miRNAs (pri-miRNAs)] is regulated during development and is altered in diseases such as cancer. The first processing step is a cleavage mediated by the Microprocessor complex containing the Drosha nuclease and the RNA-binding protein DiGeorge critical region 8 (DGCR8). We previously reported that dimeric DGCR8 binds heme and that the heme-bound DGCR8 is more active than the heme-free form. Here, we identified a conserved dimerization domain in DGCR8. Our crystal structure of this domain (residues 298-352) at 1.7 {angstrom} resolution demonstrates a previously unknown use of a WW motif as a platform for extensive dimerization interactions. The dimerization domain of DGCR8 is embedded in an independently folded heme-binding domain and directly contributes to association with heme. Heme-binding-deficient DGCR8 mutants have reduced pri-miRNA processing activity in vitro. Our study provides structural and biochemical bases for understanding how dimerization and heme binding of DGCR8 may contribute to regulation of miRNA biogenesis.

  18. Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

    PubMed

    Dinakar, Chitra; Lewin, S; Kumar, Karuna R; Harshad, Sujatha R

    2003-10-01

    A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures. PMID:14581742

  19. Diagnosis of partial complex regional pain syndrome type 1 of the hand: retrospective study of 16 cases and literature review

    PubMed Central

    2013-01-01

    Background The partial form of the complex regional pain syndrome of the hand type 1 (CRPS 1), involving only 1 to 3 fingers, is a rare condition first described in 1972. The aim of the study is to define more precisely the diagnosis workup and the prognosis of this clinical entity. Methods Retrospective study of CRPS1 partial form observed during five years in a rehabilitation ward. Application of The Budapest criteria, evaluation of radiological exams, therapeutic results and vocational outcomes. Comparison with cases from literature review. Results 132 patients were hospitalized with the diagnosis of CRPS type 1 of the hand. 16 partial forms were isolated: 11 men, 5 women with a mean age of 43 years. Among these patients, 14 (88%) met The Budapest criteria and the two remaining cases were diagnosed by using the three phase bone scintigraphy. Only moderate improvement was obtained in the majority of the patients. At the maximal time of follow-up (4 to 9 years), 50% of the patients hadn’t returned to work. From the literature review, 19 cases were eligible for clinical comparisons. The main differences between our series and the literature were: more men involved, later diagnosis and worst prognosis in term of return to work. Conclusions This is the largest series of consecutive partial form of CRPS. The Budapest criteria are sufficient for the diagnosis in 88% of cases. As in complete form of CRPS1 of the hand, three phase bone scintigraphy should only be used in doubtful cases in the first six months of the illness. Partial form of CRPS1 of the hand is rare and its prevalence remains unknown. Long term prognosis (4 to 9 years) is poor in our series, 50% of patients didn’t returned to work. PMID:23506090

  20. A case of partial trisomy 3p syndrome with rare clinical manifestations

    PubMed Central

    Han, Dong Hoon; Lee, Woo In; Bae, Chong Woo

    2012-01-01

    Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor. PMID:22474466

  1. Evidence for partial pharmaceutical reversal of the cancer anorexia–cachexia syndrome: the case of anamorelin

    PubMed Central

    Anker, Stefan D; Coats, Andrew J S; Morley, John E

    2015-01-01

    A major component of the cancer anorexia-cachexia syndrome is a decline in food intake. Up until now none of the drugs that improve appetite also improve skeletal muscle. Recent studies have suggested that the oral ghrelin-analog, anamorelin, increased food intake and muscle mass. Unfortunately, it does not increase muscle power. Its regulatory future is uncertain, although it has important clinical effects. PMID:26675382

  2. Cerebellar atrophy in a patient with velocardiofacial syndrome.

    PubMed Central

    Lynch, D R; McDonald-McGinn, D M; Zackai, E H; Emanuel, B S; Driscoll, D A; Whitaker, L A; Fischbeck, K H

    1995-01-01

    Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome. Images PMID:7562973

  3. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

    PubMed

    Kharbanda, Mira; Kannike, Kaja; Lampe, Anne; Berg, Jonathan; Timmusk, Tõnis; Sepp, Mari

    2016-06-01

    Mutations in TCF4 (basic helix-loop-helix transcription factor 4), a gene with complex organization and multiple transcription initiation sites, are usually associated with Pitt-Hopkins syndrome (PTHS). However, a translocation encompassing the 5' end of TCF4 and several point mutations have been linked to non-syndromic intellectual disability (NSID). Here we describe a family with autosomal dominantly inherited NSID in seven relatives with a partial deletion of TCF4, disrupting the 5' end of the gene, predicted to result in the reduction of the number of mRNAs that can be produced by alternative transcription initiation. Functional studies indicate that it leads to reduced levels of transcripts coding for TCF4 protein isoforms with a nuclear localization signal, which may be relevant to the phenotype. The findings in our family support the notion that the position of the mutation in TCF4 is relevant to the phenotype, with those mutations in the 5' region, cassette exons and regions not affecting the important functional domains being linked to NSID rather than PTHS. We suggest that screening for mutations in TCF4 could be considered in the investigation of NSID. PMID:27132474

  4. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

    PubMed

    Bardosi, A; Creutzfeldt, W; DiMauro, S; Felgenhauer, K; Friede, R L; Goebel, H H; Kohlschütter, A; Mayer, G; Rahlf, G; Servidei, S

    1987-01-01

    A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy. PMID:2823522

  5. Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

    PubMed Central

    Deng, Kathy; Nanda, Deepak

    2016-01-01

    Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant risk factor for life-threatening postpartum hemorrhage. We report a case of postpartum hemorrhage in a woman with 22q11.2 deletion syndrome causing severe macrothrombocytopenia. PMID:27366335

  6. Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

    PubMed

    Putoux, Audrey; Labalme, Audrey; André, Jean-Marie; Till, Marianne; Schluth-Bolard, Caroline; Berard, Jérôme; Bertrand, Yves; Edery, Patrick; Putet, Guy; Sanlaville, Damien

    2013-02-01

    We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1 regions consistent with Jacobsen and Beckwith-Wiedemann syndromes. We suggest that this chromosome imbalance results from a pericentric inversion of chromosome 11 inherited from the father, with mosaicism resulting from meiotic recombination of a paternal inversion followed by mitotic recombination during the first embryonic divisions. This hypothesis is supported by the results of microsatellite marker analysis. Three previous cases of pericentric inversion and recombination of chromosome 11 have been reported. Our case is unusual in that it combines the Jacobsen and Beckwith-Wiedemann syndromes with mosaicism. PMID:23322614

  7. Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.

    PubMed Central

    Orye, E; Craen, M; Laureys, G; van Coster, R; van Mele, B

    1985-01-01

    A Y;12 translocation, resulting in extra Yq material and partial monosomy 12p, was found in a 7 1/2 year old boy. He showed growth and mental retardation and several of the congenital anomalies seen in the 12p deletion syndrome. LDHB activity, the gene for which is located at 12p12, was normal in serum, in accordance with the suspected 12p13 deletion in the patient. Images PMID:4009644

  8. Spontaneous complete regression of hypothalamic pilocytic astrocytoma after partial resection in a child, complicated with Stevens-Johnson syndrome: a case report and literature review.

    PubMed

    Samadian, Mohammad; Bakhtevari, Mehrdad Hosseinzadeh; Haddadian, Karim; Alavi, Hossein Afshin; Rezaei, Omidvar

    2016-04-01

    Pilocytic astrocytoma (PA) is the most common pediatric central nervous system glial neoplasm and the most common pediatric cerebellar tumor. The spontaneous regression that occurs after partial/subtotal resection is multifactorial, depending on multiple factors, as for the case of humoral and cell-mediated immune responses of the host to the implanted tumor. A 7-year-old boy was referred to a neurosurgery clinic with headache. Further imaging workup revealed hypothalamic PA. Partial resection of the lesions was performed with right-side pterional approach. The patient developed a severe panmucositis [Stevens-Johnson syndrome (SJS)] and respiratory failure plus conjunctivitis, due to phenytoin allergy. During the patient's 6-month follow-up, postoperative magnetic resonance imaging (MRI) revealed a residual tumor, and about 9 months later (at 15 months postoperatively), the MRI showed total regression of the tumor. Clinically, symptomatic PA may undergo spontaneous regression after partial resection. We report a well-documented case of spontaneous regression hypothalamic PA after partial resection that complicated with SJS. Immune system reaction in SJS may have a role in tumor behavior and spontaneous regression. Multiple studies confirmed spontaneous regression in PA after partial/subtotal resection. This phenomenon occurs due to humoral and cell-mediated host immune responses to the implanted tumor. The immune system reaction in SJS may have a role in tumor behavior and spontaneous regression. PMID:26662551

  9. Study of two patients with craniosynostosis and deletions of 11q: One with features of Saethre-Chotzen syndrome and the other with concomitant partial trisomy 4q

    SciTech Connect

    Morsey, S. |; Lewanda, A.F. |; Reid, C.S.

    1994-09-01

    Partial monosomy 11q is associated with metopic craniosynostosis and trigonocephaly. Prominant features in the over 30 reported cases include downslanting palpebral fissures, epicanthal folds, hypertelorism, ptosis, wide/depressed nasal bridge, low set malformed ears, downturned mouth, micro/retrognathia, digital and cardiac anomalies and psychomotor retardation. We evaluated two patients referred for abnormal head shape. The first carried a diagnosis of Saethre-Chotzen syndrome due to brachycephaly, facial asymmetry, ptosis, cupped ears, sundactyly of 2nd and 3rd digits, developmental delay, and VSD. Karyotype revealed 46,XY,del(11)(q24.1{yields}qter). No abnormality was noted of chromosome 7p, where the Saethre-Chotzen syndrome locus has been mapped. This suggests genetic heterogeneity for this condition. The second patient had no prior diagnosis. He had trigonocephaly, bilateral cryptorchidism and inguinal hernias. He also had hypotelorism, epicanthal folds, synophrys, posteriorly rotated ears, horizontal crease below his lower lip, unilateral single palmar crease, mild soft tissue syndactyly and a shawl scrotum. His karyotype of 46,XY,-11,+der(11)t(4;11)(q31.3;q25) revealed both partial 11q monosomy and partial 4q trisomy (the latter associated with cryptorchidism, horizontal chin crease and single palmar crease). Deletions of 11q appear to produce a wide spectrum of defects, which may even mimic other known craniosynostotic conditions. Study of these patients may lead to the identification of new genes involved in craniofacial morphogenesis.

  10. Thinking dimensional: prevalence of DSM-5 early adolescent full syndrome, partial and subthreshold eating disorders in a cross-sectional survey in German schools

    PubMed Central

    Hammerle, Florian; Huss, Michael; Ernst, Verena; Bürger, Arne

    2016-01-01

    Objectives Investigating for the first time in Germany Diagnostic and Statistical Manual Fifth Edition (DSM-5) prevalences of adolescent full syndrome, Other Specified Feeding or Eating Disorder (OSFED), partial and subthreshold anorexia nervosa (AN), bulimia nervosa (BN) and binge eating disorder (BED). Method A national school-based cross-sectional survey with nine schools in Germany was undertaken that was aimed at students from grades 7 and 8. Of the 1775 students who were contacted to participate in the study, 1654 participated (participation rate: 93.2%). The sample consisted of 873 female and 781 male adolescents (mean age=13.4 years). Prevalence rates were established using direct symptom criteria with a structured inventory (SIAB-S) and an additional self-report questionnaire (Eating Disorder Inventory 2 (EDI-2)). Results Prevalences for full syndrome were 0.3% for AN, 0.4% for BN, 0.5% for BED and 3.6% for OSFED-atypical AN, 0% for BN (low frequency/limited duration), 0% for BED (low frequency/limited duration) and 1.9% for purging disorder (PD). Prevalences of partial syndrome were 10.9% for AN (7.1% established with cognitive symptoms only, excluding weight criteria), 0.2% for BN and 2.1% for BED, and of subthreshold syndrome were 0.8% for AN, 0.3% for BN and 0.2% for BED. Cases on EDI-2 scales were much more pronounced with 12.6–21.1% of the participants with significant sex differences. Conclusions The findings were in accordance with corresponding international studies but were in contrast to other German studies showing much higher prevalence rates. The study provides, for the first time, estimates for DSM-5 prevalences of eating disorders in adolescents for Germany, and evidence in favour of using valid measures for improving prevalence estimates. Trial registration number DRKS00005050; Results. PMID:27150185

  11. Partial BACE1 reduction in a Down syndrome mouse model blocks Alzheimer-related endosomal anomalies and cholinergic neurodegeneration: role of APP-CTF.

    PubMed

    Jiang, Ying; Rigoglioso, Andrew; Peterhoff, Corrinne M; Pawlik, Monika; Sato, Yutaka; Bleiwas, Cynthia; Stavrides, Philip; Smiley, John F; Ginsberg, Stephen D; Mathews, Paul M; Levy, Efrat; Nixon, Ralph A

    2016-03-01

    β-amyloid precursor protein (APP) and amyloid beta peptide (Aβ) are strongly implicated in Alzheimer's disease (AD) pathogenesis, although recent evidence has linked APP-βCTF generated by BACE1 (β-APP cleaving enzyme 1) to the development of endocytic abnormalities and cholinergic neurodegeneration in early AD. We show that partial BACE1 genetic reduction prevents these AD-related pathological features in the Ts2 mouse model of Down syndrome. Partially reducing BACE1 by deleting one BACE1 allele blocked development of age-related endosome enlargement in the medial septal nucleus, cerebral cortex, and hippocampus and loss of choline acetyltransferase (ChAT)-positive medial septal nucleus neurons. BACE1 reduction normalized APP-βCTF elevation but did not alter Aβ40 and Aβ42 peptide levels in brain, supporting a critical role in vivo for APP-βCTF in the development of these abnormalities. Although ameliorative effects of BACE1 inhibition on β-amyloidosis and synaptic proteins levels have been previously noted in AD mouse models, our results highlight the additional potential value of BACE1 modulation in therapeutic targeting of endocytic dysfunction and cholinergic neurodegeneration in Down syndrome and AD. PMID:26923405

  12. Unique phenotype in a patient with CHARGE syndrome

    PubMed Central

    2011-01-01

    CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of features are emerging, and overlap with disorders such as DiGeorge syndrome, Kallmann syndrome, and Hypoparathyroidism Sensorineural Deafness and Renal Disease syndrome, is increasingly evident. We present a patient with a unique manifestation of CHARGE syndrome, including primary hypoparathyroidism and a limb anomaly; to our knowledge, he is also the first CHARGE subject reported with bilateral multicystic dysplastic kidneys. Furthermore, with structural modeling and murine expression studies, we characterize a putative CHD7 G744S missense mutation. Our report continues to expand the CHARGE phenotype and highlights that stringent fulfillment of conventional criteria should not strictly guide genetic analysis. PMID:21995344

  13. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    PubMed Central

    Fernández, Luis; Nevado, Julián; Santos, Fernando; Heine-Suñer, Damià; Martinez-Glez, Victor; García-Miñaur, Sixto; Palomo, Rebeca; Delicado, Alicia; Pajares, Isidora López; Palomares, María; García-Guereta, Luis; Valverde, Eva; Hawkins, Federico; Lapunzina, Pablo

    2009-01-01

    Background Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. Methods We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. Results Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. Conclusion The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors. PMID

  14. Enhanced oxidative stress and platelet activation combined with reduced antioxidant capacity in obese prepubertal and adolescent girls with full or partial metabolic syndrome.

    PubMed

    Karamouzis, I; Pervanidou, P; Berardelli, R; Iliadis, S; Papassotiriou, I; Karamouzis, M; Chrousos, G P; Kanaka-Gantenbein, C

    2011-08-01

    In adults, obesity is a main factor implicated in increased oxidative stress (OS), platelet activation (PA) and impaired antioxidant status (AS), all predisposing factors for cardiovascular disease leading to increased morbidity and mortality. Furthermore, the metabolic syndrome (MetS) is an important cardiovascular risk factor, which progressively develops and may already be present during late childhood or adolescence. However, scarce data exist on oxidative-antioxidant balance and PA in childhood and adolescence in the presence of partial (PMetS) or full MetS. The aim of the study was to evaluate OS, PA, and AS in prepubertal and adolescent obese girls with partial or full MetS. 96 girls with a clinical and metabolic evaluation for obesity and 44 healthy normal-weight sex- and age-matched girls were studied. IDF-adopted criteria were used to define full and partial MetS and the patient population was divided into 4 groups: the first comprised 31 pre-pubertal girls with PMetS (PR-PMetS), the second 37 adolescents with PMetS (AD-PMetS), the third 10 prepubertal girls with full MetS (PR-MetS), and the fourth 18 adolescents with full MetS (AD-MetS). The OS was evaluated by measuring plasma 15-F(2t)-Isoprostane levels (15-F(2t)-IsoP) and protein carbonyls, PA by thromboxane B(2) levels (TXB(2)), and AS by serum vitamin E and plasma total antioxidant capacity (TAC) levels. 15-F(2t)-IsoP, protein carbonyls, and TXB(2) levels were significantly gradually amplified, and vitamin E and TAC reduced, and significantly correlated with obesity from childhood to adolescence and from partial to full MetS. This study demonstrates the loss of the normal homeostatic balance between oxidant-antioxidant state in obese children and adolescents with manifestations of partial and full MetS. PMID:21823055

  15. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    PubMed

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. PMID:26358864

  16. A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome.

    PubMed

    Atwal, Paldeep S; Macmurdo, C

    2015-12-01

    Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features. This case report describes phenotypic characteristics of a patient with extremely rare instance of having both MDS and 22q11.2 deletion syndrome that is unique in the medical literature. Prognosis in this concurrent phenotype is poor with our patient suffering from several malformations seen in both conditions and expiring in the neonatal period. PMID:27617133

  17. MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.

    PubMed

    Chiavacci, Elena; D'Aurizio, Romina; Guzzolino, Elena; Russo, Francesco; Baumgart, Mario; Groth, Marco; Mariani, Laura; D'Onofrio, Mara; Arisi, Ivan; Pellegrini, Marco; Cellerino, Alessandro; Cremisi, Federico; Pitto, Letizia

    2015-01-01

    Holt-Oram Syndrome (HOS) is an autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene, a transcription factor capable of regulating hundreds of cardiac-specific genes through complex transcriptional networks. Here we show that, in zebrafish, modulation of a single miRNA is sufficient to rescue the morphogenetic defects generated by HOS. The analysis of miRNA-seq profiling revealed a decreased expression of miR-19a in Tbx5-depleted zebrafish embryos compared to the wild type. We revealed that the transcription of the miR-17-92 cluster, which harbors miR-19a, is induced by Tbx5 and that a defined dosage of miR-19a is essential for the correct development of the heart. Importantly, we highlighted that miR-19a replacement is able to rescue cardiac and pectoral fin defects and to increase the viability of HOS zebrafish embryos. We further observed that miR-19a replacement shifts the global gene expression profile of HOS-like zebrafish embryos towards the wild type condition, confirming the ability of miR-19a to rescue the Tbx5 phenotype. In conclusion our data demonstrate the importance of Tbx5/miR-19a regulatory circuit in heart development and provide a proof of principle that morphogenetic defects associated with HOS can be rescued by transient miRNA modulation. PMID:26657204

  18. MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome

    PubMed Central

    Chiavacci, Elena; D’Aurizio, Romina; Guzzolino, Elena; Russo, Francesco; Baumgart, Mario; Groth, Marco; Mariani, Laura; D’Onofrio, Mara; Arisi, Ivan; Pellegrini, Marco; Cellerino, Alessandro; Cremisi, Federico; Pitto, Letizia

    2015-01-01

    Holt-Oram Syndrome (HOS) is an autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene, a transcription factor capable of regulating hundreds of cardiac-specific genes through complex transcriptional networks. Here we show that, in zebrafish, modulation of a single miRNA is sufficient to rescue the morphogenetic defects generated by HOS. The analysis of miRNA-seq profiling revealed a decreased expression of miR-19a in Tbx5-depleted zebrafish embryos compared to the wild type. We revealed that the transcription of the miR-17-92 cluster, which harbors miR-19a, is induced by Tbx5 and that a defined dosage of miR-19a is essential for the correct development of the heart. Importantly, we highlighted that miR-19a replacement is able to rescue cardiac and pectoral fin defects and to increase the viability of HOS zebrafish embryos. We further observed that miR-19a replacement shifts the global gene expression profile of HOS-like zebrafish embryos towards the wild type condition, confirming the ability of miR-19a to rescue the Tbx5 phenotype. In conclusion our data demonstrate the importance of Tbx5/miR-19a regulatory circuit in heart development and provide a proof of principle that morphogenetic defects associated with HOS can be rescued by transient miRNA modulation. PMID:26657204

  19. THE PROLONGED GASTROINTESTINAL SYNDROME IN RHESUS MACAQUES: THE RELATIONSHIP BETWEEN GASTROINTESTINAL, HEMATOPOIETIC, AND DELAYED MULTI-ORGAN SEQUELAE FOLLOWING ACUTE, POTENTIALLY LETHAL, PARTIAL-BODY IRRADIATION

    PubMed Central

    MacVittie, Thomas J.; Bennett, Alexander; Booth, Catherine; Garofalo, Michael; Tudor, Gregory; Ward, Amanda; Shea-Donohue, Terez; Gelfond, Daniel; McFarland, Emylee; Jackson, William; Lu, Wei; Farese, Ann M.

    2014-01-01

    The dose response relationship for the acute gastrointestinal syndrome following total-body irradiation prevents analysis of the full recovery and damage to the gastrointestinal system, since all animals succumb to the subsequent 100% lethal hematopoietic syndrome. A partial-body irradiation model with 5% bone marrow sparing was established to investigate the prolonged effects of high-dose radiation on the gastrointestinal system, as well as the concomitant hematopoietic syndrome and other multi-organ injury including the lung. Herein, cellular and clinical parameters link acute and delayed coincident sequelae to radiation dose and time course post-exposure. Male rhesus Macaca mulatta were exposed to partial-body irradiation with 5% bone marrow (tibiae, ankles, feet) sparing using 6 MV linear accelerator photons at a dose rate of 0.80 Gy min−1 to midline tissue (thorax) doses in the exposure range of 9.0 to 12.5 Gy. Following irradiation, all animals were monitored for multiple organ-specific parameters for 180 d. Animals were administered medical management including administration of intravenous fluids, antiemetics, prophylactic antibiotics, blood transfusions, antidiarrheals, supplemental nutrition, and analgesics. The primary endpoint was survival at 15, 60, or 180 d post-exposure. Secondary endpoints included evaluation of dehydration, diarrhea, hematologic parameters, respiratory distress, histology of small and large intestine, lung radiographs, and mean survival time of decedents. Dose- and time-dependent mortality defined several organ-specific sequelae, with LD50/15 of 11.95 Gy, LD50/60 of 11.01 Gy, and LD50/180 of 9.73 Gy for respective acute gastrointestinal, combined hematopoietic and gastrointestinal, and multi-organ delayed injury to include the lung. This model allows analysis of concomitant multi-organ sequelae, thus providing a link between acute and delayed radiation effects. Specific and multi-organ medical countermeasures can be assessed for

  20. Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome

    PubMed Central

    FLIESLER, STEVEN J.; VAUGHAN, DANA K.; JENEWEIN, ERIN C.; RICHARDS, MICHAEL J.; NAGEL, BARBARA A.; PEACHEY, NEAL S.

    2007-01-01

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

  1. Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

    PubMed Central

    Silva, Maria Luiza Macedo; do Socorro Pombo-de-Oliveira, Maria; Raimondi, Susana C; Mkrtchyan, Hasmik; Abdelhay, Eliana; de Figueiredo, Amanda Faria; de Souza, Mariana Tavares; Garcia, Daniela Ribeiro Ney; de Ventura, Eliane Maria Soares; de Sousa, Adriana Martins; Liehr, Thomas

    2009-01-01

    Background Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported infants with such malignancies are reported. Results An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23. Conclusion Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined. PMID:19228396

  2. 22q11.2 deletion syndrome.

    PubMed

    McDonald-McGinn, Donna M; Sullivan, Kathleen E; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A S; Zackai, Elaine H; Emanuel, Beverly S; Vermeesch, Joris R; Morrow, Bernice E; Scambler, Peter J; Bassett, Anne S

    2015-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness - all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  3. 22q11.2 deletion syndrome

    PubMed Central

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2016-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  4. Recombinant Receptor Binding Domain Protein Induces Partial Protective Immunity in Rhesus Macaques Against Middle East Respiratory Syndrome Coronavirus Challenge☆

    PubMed Central

    Lan, Jiaming; Yao, Yanfeng; Deng, Yao; Chen, Hong; Lu, Guangwen; Wang, Wen; Bao, Linlin; Deng, Wei; Wei, Qiang; Gao, George F.; Qin, Chuan; Tan, Wenjie

    2015-01-01

    Background Development an effective vaccine against Middle East respiratory syndrome coronavirus (MERS-CoV) is urgent and limited information is available on vaccination in nonhuman primate (NHP) model. We herein report of evaluating a recombinant receptor-binding domain (rRBD) protein vaccine in a rhesus macaque model. Methods Nine monkeys were randomly assigned to high-dose, low-dose and mock groups,which were immunized with different doses of rRBD plus alum adjuvant or adjuvant alone at different time points (0, 8, 25 weeks). Immunological analysis was conducted after each immunisation. Monkeys were challenged with MERS-CoV at 14 days after the final immunisation followed by observation for clinical signs and chest X-rays. Nasal, oropharyngeal and rectal swabs were also collected for analyses. Monkeys were euthanized 3 days after challenge and multiple specimens from tissues were collected for pathological, virological and immunological tests. Conclusion Robust and sustained immunological responses (including neutralisation antibody) were elicited by the rRBD vaccination. Besides, rRBD vaccination alleviated pneumonia with evidence of reduced tissue impairment and clinical manifestation in monkeys. Furthermore, the rRBD vaccine decreased viral load of lung, trachea and oropharyngeal swabs of monkeys. These data in NHP paves a way for further development of an effective human vaccine against MERS-CoV infection. PMID:26629538

  5. Cholecystokinin (CCK) functional cholescintigraphic findings in patients with a partial cystic duct obstruction - the cystic duct syndrome (CDS)

    SciTech Connect

    Fink-Bennett, D.; DeRidder, P.; Kolozsi, W.; Gordon, R.

    1984-01-01

    Fourteen patients (pts.) with a CDS underwent CCK functional cholescintigraphy (FC). All pts. presented with persistent post-prandial right upper quadrant pain and biliary colic. None had an abnormal OCG, gallbladder (GB) ultrasound exam or upper G.I. series. All had macro- or microscopically abnormal cystic ducts (5 fibrotic, 7 elongated and narrow, 2 kinked) with (12) or without (2) concomitant chronic cholecystitis. Each pt. (NPO after 12 A.M.) received 5 mCi of technetium (TC)-99m Hepatolite. When the GB max. filled, .02 ug/kg CCK was administered (3 min.) I.V. Background corrected GBEFs were determined q.5 min. x 4 by ratioing the pre-CCK GB cts. minus post-CCK GB cts. to pre-CCK GB cts. GB EFRs were: 3 (12%), 2 (17%), and 1 each 0%, 1.3%, 3%, 4%, 6%, 11%, 14%, 18.5% and 22%. No pt. with a partially occluded cystic duct with or without concomitant chronic cholecystitis had an ejection fraction that exceeded 22%. In an appropriate clinical setting, a low ejection fraction response to CCK should alert the physician to the presence of either chronic acalculous cholecystitis, CDS, or the combination of both.

  6. A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

    PubMed

    Koçyiğit, Cemil; Sarıtaş, Serdar; Çatlı, Gönül; Onay, Hüseyin; Dündar, Bumin Nuri

    2016-06-01

    Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. However, AR gene mutations are found in less than a third of PAIS cases. A 16-year-old boy was admitted with complaints of gynecomastia and sparse facial hair. Family history revealed male relatives from maternal side with similar clinical phenotype. His external genitalia were phenotypically male with pubic hair Tanner stage IV, penoscrotal hypospadias, and a bifid scrotum with bilateral atrophic testes. He had elevated gonadotropins with a normal testosterone level. Chromosome analysis revealed a 46,XY karyotype. Due to the family history suggesting a disorder of X-linked trait, PAIS was considered and molecular analysis of AR gene was performed. DNA sequence analysis revealed a novel hemizygous mutation p.T576I (c.1727C>T) in the AR gene. The diagnosis of PAIS is based upon clinical phenotype and laboratory findings and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue for a quick diagnosis. PMID:27087292

  7. Hepatic ischemia-reperfusion syndrome after partial liver resection (LR): hepatic venous oxygen saturation, enzyme pattern, reduced and oxidized glutathione, procalcitonin and interleukin-6.

    PubMed

    Kretzschmar, Michael; Krüger, Antie; Schirrmeister, Wulf

    2003-06-01

    The hepatic ischemia-reperfusion syndrome was investigated in 28 patients undergoing elective partial liver resection with intraoperative occlusion of hepatic inflow (Pringle maneuver) using the technique of liver vein catheterization. Hepatic venous oxygen saturation (ShvO2) was monitored continuously up to 24 hours after surgery. Aspartate aminotransferase, glutamate dehydrogenase, gamma-glutamyl transpeptidase, pseudocholinesterase, alpha-glutathione S-transferase, reduced and oxidized glutathione, procalcitonine, and interleukin-6 were serially measured both before and after Pringle maneuver during the resection and postoperatively in arterial and/or hepatic venous blood. ShvO2 measurement demonstrated that peri- and postoperative management was suitable to maintain an optimal hepatic oxygen supply. As expected, we were able to demonstrate a typical enzyme pattern of postischemic liver injury. There was a distinct decrease of reduced glutathione levels both in arterial and hepatic venous plasma after LR accompanied by a strong increase in oxidized glutathione concentration during the phase of reperfusion. We observed increases in procalcitonin and interleukin-6 levels both in arterial and hepatic venous blood after declamping. Our data support the view that liver resection in man under conditions of inflow occlusion resulted in ischemic lesion of the liver (loss of glutathione synthesizing capacity with disturbance of protection against oxidative stress) and an additional impairment during reperfusion (liberation of reactive oxygen species, local and systemic inflammation reaction with cytokine production). Additionally, we found some evidence for the assumption that the liver has an export function for reduced glutathione into plasma in man. PMID:12877355

  8. [Syndrome of partial cholinergic deafferentation of the cortical mantle--a concept for describing the brain-behavior relationship in dementia diseases].

    PubMed

    Arendt, T

    1991-03-01

    The identification of morphological and biochemical changes in neurodegenerative disorders with both common and different patterns of neuropsychological dysfunction may help to define the neurobiological substrate of amnesic and dementing disorders, and, furthermore, will give some insight into the neuronal organisation of memory processes. The concept of "subcortical and cortical dementia" and the "cholinergic hypothesis of memory dysfunction" reflect two different theoretical approaches which relate psychopathological disturbances in Alzheimer's disease, Parkinson's disease, Korsakoff's psychosis and related conditions either to structurally or to chemically defined systems of the brain. In order to overcome limitations arising from this dichotomy of structural and chemical approaches to the brain-behaviour-relationship, the concept of a "syndrome of partial cholinergic deafferentation of the cortical mantle" is suggested in the present paper. This concept is supported by evidence derived from the biochemical, morphological and behavioural sequelae of acute and chronic experimental interference with the cholinergic afferentation of the cortical mantle by the application of neurotoxins, by pharmacological intervention and by neurotransplantation in rat. Regarding the cholinergic projection neurons of the basal forebrain and upper brainstem as components of the reticular activating system, the involvement of the cholinergic afferentation of the cortical mantle in the mediation of memory processes and their dysfunction under the conditions of neurodegenerative disorders can be explained on the basis of the "Hippocampal Memory Indexing Theory" of Teyler and DiScenna. PMID:2050315

  9. First description of postweaning multisystemic wasting syndrome (PMWS) in wild boar (Sus scrofa) in Croatia and phylogenetic analysis of partial PCV2 sequences.

    PubMed

    Lipej, Z; Segalés, J; Jemersić, Lorena; Olvera, A; Roić, Besi; Novosel, D; Mihaljević, Z; Manojlović, L

    2007-09-01

    This report describes the first case of postweaning multisystemic wasting syndrome (PMWS) in wild boar in Croatia. During the winter season of 2004, eight wild young piglets (of approximately 2 to 5 months of age) were found dead in a fenced hunting area. Polymerase chain reaction (PCR) was carried out on mesenteric lymph nodes and all animals yielded positive results. In one of these animals diagnosis of PMWS was established based on the three key diagnostic criteria including the clinical manifestation, moderate lymphoid lesions consisting of lymphocyte depletion and granulomatous inflammation, and detection of the presence of PCV2 genome within the lymphoid lesions by in situ hybridisation (ISH). Three additional wild piglets had also mild PMWS-like lesions and a low amount of PCV2 was also found. No PMWS-like lesions or PCV2 genome were detected in the rest of the wild piglets studied. Three PCR-positive isolates were partially sequenced, which confirmed the diagnosis of PCV2 and demonstrated that the three sequences were genetically identical. The phylogenetic analysis of a representative PCV2 isolate indicated that its sequence (DQ875444) is grouped in a separate branch with Hungarian isolate (AY256460) and differs from any of the annotated sequences. PMID:17867466

  10. Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice.

    PubMed

    Shim, Jae-Hyuck; Greenblatt, Matthew B; Singh, Anju; Brady, Nicholas; Hu, Dorothy; Drapp, Rebecca; Ogawa, Wataru; Kasuga, Masato; Noda, Tetsuo; Yang, Sang-Hwa; Lee, Sang-Kyou; Rebel, Vivienne I; Glimcher, Laurie H

    2012-01-01

    Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human skeletal dysplasia Rubinstein-Taybi syndrome (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown. Here, we report the identification of 3-phosphoinositide-dependent kinase 1 (PDK1) as a key regulator of CBP activity and demonstrate that its functions map to both osteoprogenitor cells and mature osteoblasts. In osteoblasts, PDK1 activated the CREB/CBP complex, which in turn controlled runt-related transcription factor 2 (RUNX2) activation and expression of bone morphogenetic protein 2 (BMP2). These pathways also operated in vivo, as evidenced by recapitulation of RTS spectrum phenotypes with osteoblast-specific Pdk1 deletion in mice (Pdk1osx mice) and by the genetic interactions observed in mice heterozygous for both osteoblast-specific Pdk1 deletion and either Runx2 or Creb deletion. Finally, treatment of Pdk1osx and Cbp+/- embryos with BMPs in utero partially reversed their skeletal anomalies at birth. These findings illustrate the in vivo function of the PDK1-AKT-CREB/CBP pathway in bone formation and provide proof of principle for in utero growth factor supplementation as a potential therapy for skeletal dysplasias. PMID:22133875

  11. Structural and functional changes in gap junctional intercellular communication in a rat model of overactive bladder syndrome induced by partial bladder outlet obstruction

    PubMed Central

    ZHOU, FENGHAI; LI, HAIYUAN; ZHOU, CHUAN; LV, HAIDI; MA, YULEI; WANG, YANGMIN; SONG, BO

    2016-01-01

    The aim of the present study was to investigate the association between connexin (Cx)43 levels and alterations in gap junctional mediation of intercellular communication in overactive bladder syndrome (OAB), and to examine the effects of connexin inhibitor on this condition. Adult female Wistar rats with OAB following partial bladder outlet obstruction (PBBO) (OAB group, n=37) and sham-operated rats (control group, n=17) were studied. The ultrastructure of the rat detrusor was observed by transmission electron microscopy and the protein expression levels of Cx43 were analyzed using western blot analysis. Furthermore, bladder detrusor cells in both groups were cultured and cells in the OAB group were randomly divided into ten groups. In nine of these groups, 18-β glycyrrhetinic acid (18β-GA) was administered at various doses and durations. All groups were compared using fluorescence redistribution after photobleaching and a laser scanning confocal microscope. Cystometry demonstrated that gap junctions were an abundant mechanism among adjacent cells, and Cx43 protein expression levels were increased in the OAB group following 6 weeks of obstruction, as compared with the control group. Mean fluorescence recovery rates in the OAB group were significantly increased, as compared with the control group (P<0.01). Mean fluorescence recovery rates were noted following 18β-GA administration. These results suggested that upregulation of Cx43 induces structural and functional alterations in gap junctional intercellular communication following PBOO, and connexin inhibitors may be a novel therapeutic strategy for the clinical treatment of OAB. PMID:27284295

  12. Partially Hydrolyzed Guar Gum in the Treatment of Irritable Bowel Syndrome with Constipation: Effects of Gender, Age, and Body Mass Index

    PubMed Central

    Russo, Luigi; Andreozzi, Paolo; Zito, Francesco P.; Vozzella, Letizia; Savino, Ivana G.; Sarnelli, Giovanni; Cuomo, Rosario

    2015-01-01

    Background/Aims: Partially hydrolyzed guar gum (PHGG) relieves symptoms in constipation-predominant irritable bowel syndrome (IBS) and may have prebiotic properties. However, the correlation between the effectiveness of PHGG and patient characteristics has not been examined. We aimed to investigate the effect of PHGG in symptom relief on constipation-predominant IBS according to gender, age, and body mass index (BMI). Patients and Methods: Sixty-eight patients with IBS entered a 2-week run-in period, followed by a 4-week study period with PHGG. Patients completed a daily questionnaire to assess the presence of abdominal pain/discomfort, swelling, and the sensation of incomplete evacuation. The number of evacuations/day, the daily need for laxatives/enemas and stool consistency-form were also evaluated. All patients also underwent a colonic transit time (CTT) evaluation. Results: PHGG administration was associated with a significant improvement in symptom scores, use of laxatives/enemas, stool form/consistency and CTT. At the end of the study period and compared with baseline, the number of evacuations improved in women, patients aged ≥ 45 years and those with BMI ≥ 25 (P < 0.05 for all comparisons); abdominal bloating improved in males (P < 0.05), patients < 45 years (P < 0.01) and those with BMI < 25 (P < 0.05). A decrease in the number of perceived incomplete evacuations/day was reported in patients with a BMI ≥ 25 (P < 0.05). Reductions in laxative/enema use were recorded in females (P < 0.05), patients < 45 years (P < 0.01), and patients with BMI < 25 (P < 0.05). Conclusions: Gender, age, and BMI seem to influence the effect of PHGG supplementation in constipated IBS patients. Further studies are needed to clarify the interaction of such parameters with a fiber-enriched diet. PMID:25843197

  13. Elicitation of "childhood memories" in hypnosis-like settings is associated with complex partial epileptic-like signs for women but not for men: implications for the false memory syndrome.

    PubMed

    Persinger, M A

    1994-04-01

    20 male and 20 female undergraduate students were exposed singly for 20 min. to an exotic setting (partial sensory deprivation and weak, bilateral transtemporal pulsed magnetic fields) that enhances relaxation and exotic experiences. The numerical incidence of subjective experiences described as old memories, dreams, emotions, or vestibular sensations did not differ significantly between the sexes; however, women who reported a greater prevalence of preexperimental complex partial epileptic-like signs were more likely to report experiences of "old memories" (r = 0.61) while men who exhibited these signs were more likely to report dream-like (r = 0.49) experiences. Because complex partial epileptic-like signs are positively associated with suggestibility, the potential contribution of this differential gender effect to the etiology of the False Memory Syndrome requires further investigation. PMID:8022694

  14. The Ratio of Partial Pressure Arterial Oxygen and Fraction of Inspired Oxygen 1 Day After Acute Respiratory Distress Syndrome Onset Can Predict the Outcomes of Involving Patients.

    PubMed

    Lai, Chih-Cheng; Sung, Mei-I; Liu, Hsiao-Hua; Chen, Chin-Ming; Chiang, Shyh-Ren; Liu, Wei-Lun; Chao, Chien-Ming; Ho, Chung-Han; Weng, Shih-Feng; Hsing, Shu-Chen; Cheng, Kuo-Chen

    2016-04-01

    The initial hypoxemic level of acute respiratory distress syndrome (ARDS) defined according to Berlin definition might not be the optimal predictor for prognosis. We aimed to determine the predictive validity of the stabilized ratio of partial pressure arterial oxygen and fraction of inspired oxygen (PaO2/FiO2 ratio) following standard ventilator setting in the prognosis of patients with ARDS.This prospective observational study was conducted in a single tertiary medical center in Taiwan and compared the stabilized PaO2/FiO2 ratio (Day 1) following standard ventilator settings and the PaO2/FiO2 ratio on the day patients met ARDS Berlin criteria (Day 0). Patients admitted to intensive care units and in accordance with the Berlin criteria for ARDS were collected between December 1, 2012 and May 31, 2015. Main outcome was 28-day mortality. Arterial blood gas and ventilator setting on Days 0 and 1 were obtained.A total of 238 patients met the Berlin criteria for ARDS were enrolled, and they were classified as mild (n = 50), moderate (n = 125), and severe (n = 63) ARDS, respectively. Twelve (5%) patients who originally were classified as ARDS did not continually meet the Berlin definition, and a total of 134 (56%) patients had the changes regarding the severity of ARDS from Day 0 to Day 1. The 28-day mortality rate was 49.1%, and multivariate analysis identified age, PaO2/FiO2 on Day 1, number of organ failures, and positive fluid balance within 5 days as significant risk factors of death. Moreover, the area under receiver-operating curve for mortality prediction using PaO2/FiO2 on Day 1 was significant higher than that on Day 0 (P = 0.016).PaO2/FiO2 ratio on Day 1 after applying mechanical ventilator is a better predictor of outcomes in patients with ARDS than those on Day 0. PMID:27057912

  15. Kousseff syndrome: A fifth case?

    SciTech Connect

    Laux, R.A.; Hamilton, W.; Pinette, M.

    1994-09-01

    Kousseff originally described three siblings with an open sacral myelomeningocele, conotruncal cardiac malformations, low-set, posteriorly rotated ears, retrognathia, a short neck with a low posterior hairline, and renal agenesis as a new autosomal recessive condition. Open neural tube lesions and complex conotruncal cardiac defects are relatively common malformations, both as isolated defects and individually as components of syndromes, but they have been found together only rarely, as part of chromosomal syndromes or following maternal exposures. Toriello et al. reported a fourth case and suggested the eponym Kousseff syndrome for myelomeningcocele, conotruncal defects and minor facial abnormalies. We report a fifth probable case. This male infant was born by spontaneous vaginal delivery at 38 weeks gestation to a 23-year-old G{sub 2}P{sub 1001} mother. Pregnancy was complicated by an elevated alpha-fetoprotein at 16 weeks gestation, followed by an ultrasound diagnosis of an open disease. After birth, physical examination also revealed dysmorphic facies, with a bulbous nose and low-set, posteriorly rotated ears, bilateral 5th finger clinodactyly and hypotonia. Echocardiogram demonstrated complex conotruncal malformations. The patient underwent closure of the myelomeningocele but died at one month of age. Chromosomal analysis was normal (46,XY). Because conotruncal heart defects have been associated with deletions on chromosome 22, FISH analysis using a probe for the DiGeorge syndrome on the long arm of chromosome 22 was performed. It indicated no detectable deletion within this critical region on 22q11. Nonetheless there remains the possibility of a gene (or genes) located on 22q that could produce findings of this rare multiple congenital anomaly syndrome when disrupted. Therefore, further investigation on this chromosome is warranted.

  16. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

    PubMed Central

    Wadey, R; Daw, S; Wickremasinghe, A; Roberts, C; Wilson, D; Goodship, J; Burn, J; Halford, S; Scambler, P J

    1993-01-01

    End fragment cloning from a YAC at the D22S134 locus allowed the isolation of a new probe HD7k. This marker detects hemizygosity in two patients previously shown to be dizygous for D22S134. This positions the distal deletion breakpoint in these patients to the sequences within the YAC, and confirms that HD7k is proximal to D22S134. In a search for coding sequences within the region commonly deleted in DGS we have identified a conserved sequence at D22S134. Although no cDNAs have yet been isolated, genomic sequencing shows a short open reading frame with weak similarity to collagen proteins. Images PMID:8230156

  17. Microprocessor complex subunit DiGeorge syndrome critical region gene 8 (Dgcr8) is required for schwann cell myelination and myelin maintenance.

    PubMed

    Lin, Hsin-Pin; Oksuz, Idil; Hurley, Edward; Wrabetz, Lawrence; Awatramani, Rajeshwar

    2015-10-01

    We investigated the role of a key component of the Microprocessor complex, DGCR8, in the regulation of myelin formation and maintenance. We found that conditionally ablating Dgcr8 in Schwann cells (SCs) during development results in an arrest of SC differentiation. Dgcr8 conditional knock-out (cKO) SCs fail to form 1:1 relationships with axons or, having achieved this, fail to form myelin sheaths. The expression of genes normally found in immature SCs, such as sex-determining region Y-box 2 (Sox2), is increased in Dgcr8 cKO SCs, whereas the expression of myelin-related genes, including the master regulatory transcription factor early growth response 2 (Egr2), is decreased. Additionally, expression of a novel gene expression program involving sonic hedgehog (Shh), activated de novo in injured nerves, is elevated in Dgcr8 cKOs but not in Egr2 null mice, a model of SC differentiation arrest, suggesting that the injury-related gene expression program in Dgcr8 cKOs cannot be attributed to differentiation arrest. Inducible ablation of Dgcr8 in adult SCs results in gene expression changes similar to those found in cKOs, including an increase in the expression of Sox2 and Shh. Analyses of these nerves mainly reveal normal myelin thickness and axon size distribution but some dedifferentiated SCs and increased macrophage infiltration. Together our data suggest that Dgcr8 is responsible for modulation of gene expression programs underlying myelin formation and maintenance as well as suppression of an injury-related gene expression program. PMID:26272614

  18. Okamoto syndrome in a girl of Caucasian origin.

    PubMed

    Markouri, Margharita; Karpathios, Themistokles; Dinopoulos, Argirios; Attilakos, Achilleas; Fretzayas, Andrew; Bakoula, Chryssa; Kitsiou-Tzeli, Sophia

    2008-12-01

    We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole-genome high-resolution comparative genetic hybridization analysis were negative for any gross numerical or structural chromosome aberrations and for microdeletions/duplications of more than 3 million base pairs respectively. Fluorescence in situ hybridization analysis for 22q11.2 deletion and DNA analysis of the protein tyrosine phosphatase, non-receptor type II gene were normal, thus excluding DiGeorge and Noonan syndromes. Our patient did not show most of the cardinal features of Schinzel-Giedion, otopalatodigital, and C-trigonocephaly syndromes. Moreover, in our patient some new malformations were identified: unilateral kidney hypoplasia and severe anal stenosis. The latter was considered as pertinent and is described here to establish a wider clinical spectrum of Okamoto syndrome. At the age of 3 years 6 months the child continues to show severe growth failure and significant global developmental delay. For the practising paediatrician it is prudent to bear Okamoto syndrome in mind, especially in children with learning disability and a pattern of dysmorphic features. PMID:19046188

  19. X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27{beta} probe

    SciTech Connect

    Camus, P.; Abbadi, N.; Gilgenkrantz, S.

    1994-04-15

    Rett syndrome (RS) is a severe progressive neurological disorder occurring exclusively in females. Most cases are sporadic. The few familial cases (less than 1%) cannot be explained by a simple mode of inheritance. Several hypotheses have been proposed: X-linked male lethal mutation, maternal uniparental disomy, fresh mutation on the X chromosome, involvement of mitochondrial DNA and differential inactivation with metabolic interference of X-borne alleles. The authors have examined the pattern of X inactivation in 10 affected girls who were selected according to the clinical criteria previously described and accepted by the French Rett Scientific Committee. The X inactivation pattern was studied by analysis of methylation at the hypervariable locus DXS255 with the M27{beta} probe. The results show a more-or-less skewed inactivation of paternal X in 8 Rett females, and 2 cases of symmetrical inactivation. In control girls, inactivation was symmetrical cases and the maternal X has been preferentially inactivated in the other 2 cases. In no case was a total skewed inactivation observed. Though there was clear evidence for a preferential paternal X inactivation that was statistically significant further studies are necessary to establish a relationship between X inactivation pattern and Rett syndrome.

  20. Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

    PubMed

    Chrast, R; Scott, H S; Madani, R; Huber, L; Wolfer, D P; Prinz, M; Aguzzi, A; Lipp, H P; Antonarakis, S E

    2000-07-22

    The Drosophila single-minded (sim) transcription factor, is a master regulator of fruitfly neurogenesis. Recently, we have cloned and mapped a human homolog of sim, SIM2, to chromosome 21 in the so-called 'Down syndrome chromosomal region'. Three copies of SIM2 may contribute to some Down syndrome (DS) phenotypes because of the mapping position function as transcriptional repressor, temporal and spatial expression pattern of mouse Sim2, and the potentially analogous role of human SIM2 to that of Drosophila sim during neurogenesis. In order to validate this hypothesis in vivo, we have created the first bacterial artificial chromosome transgenic mice overexpressing a gene possibly involved in DS with only one or two additional copies of mouse Sim2. The transgene was shown to be expressed in the same spatial pattern as the endogenous gene. The mice develop normally, are fertile and do not show detectable histopathological abnormalities. However, detailed analysis of their behavior revealed anxiety-related/reduced exploratory behaviour and sensitivity to pain, phenotypes similar to those also present in other partial trisomy 16 mouse models of DS. Our data therefore suggest that overexpression of SIM2 contributes to some of the complex DS phenotypes. PMID:10915774

  1. Birth of a child with Down syndrome in a family transmitting an unusual chromosome 22 arising from a translocation between chromosomes 21 and an inverted chromosome 22

    SciTech Connect

    Aviv, H.A.; Desposito, F.; Lieber, C.

    1994-09-01

    Chromosomal analysis of a child with Down syndrome resulted in the identification of a family with an unusual translocation and in the definition of the translocation breakpoints. Studies were performed on the child, his siblings, mother, mother`s sister, and grandmother. All of the family members were carriers of the translocation. We performed G-banding, silver stain, C-banding, and hybridization with the following FISH probes (Oncor): {alpha}-satellite 13/21; {beta}-satellite, coatasome 21 and 22, and the probes for chromosome 22 at 22q11 (DiGeorge region) and 22q13.3 (control region). Using the banding techniques and probes, we characterized the karyotype as: 45,XX,-21,-22,+der(22),t(21;22)(22qter{r_arrow}22q11.2::22p13{r_arrow}22q11.2::21q11.2{r_arrow}21qter). The effect of deletion of 21q11.2 and the break of chromosome 22 in the DiGeorge region in this family is not clear. However, the presence of the translocation increases the risk of family members of conceiving children with Down syndrome.

  2. 47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

    PubMed Central

    Bass, H N; Weber-Parisi, F; Sparkes, R S

    1978-01-01

    A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were similar to those of other patients with an additional number 18 chromosome in which all or most of the long arm was missing, thus raising the possibility of a distinct syndrome. Images PMID:739531

  3. Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane

    PubMed Central

    Sánchez-Vicente, José L.; Rueda, Trinidad; Rodríguez de la Rúa-Franch, Enrique; Molina-Socola, Fredy E.; Vital-Berral, Cristina; Alfaro-Juárez, Asunción; López-Herrero, Fernando; Muñoz-Morales, Ana

    2016-01-01

    Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA. PMID:27595027

  4. Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane.

    PubMed

    Sánchez-Vicente, José L; Contreras-Díaz, Miguel; Rueda, Trinidad; Rodríguez de la Rúa-Franch, Enrique; Molina-Socola, Fredy E; Vital-Berral, Cristina; Alfaro-Juárez, Asunción; López-Herrero, Fernando; Muñoz-Morales, Ana

    2016-01-01

    Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS. Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period. Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA. PMID:27595027

  5. Epilepsy (partial)

    PubMed Central

    2011-01-01

    Introduction About 3% of people will be diagnosed with epilepsy during their lifetime, but about 70% of people with epilepsy eventually go into remission. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of starting antiepileptic drug treatment following a single seizure? What are the effects of drug monotherapy in people with partial epilepsy? What are the effects of additional drug treatments in people with drug-resistant partial epilepsy? What is the risk of relapse in people in remission when withdrawing antiepileptic drugs? What are the effects of behavioural and psychological treatments for people with epilepsy? What are the effects of surgery in people with drug-resistant temporal lobe epilepsy? We searched: Medline, Embase, The Cochrane Library, and other important databases up to July 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 83 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antiepileptic drugs after a single seizure; monotherapy for partial epilepsy using carbamazepine, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, sodium valproate, or topiramate; addition of second-line drugs for drug-resistant partial epilepsy (allopurinol, eslicarbazepine, gabapentin, lacosamide, lamotrigine, levetiracetam, losigamone, oxcarbazepine, retigabine, tiagabine, topiramate, vigabatrin, or zonisamide); antiepileptic drug withdrawal for people with partial or

  6. Chediak-Higashi syndrome.

    PubMed

    Kumar, P; Rao, K S; Shashikala, P; Chandrashekar, H R; Banapurmath, C R

    2000-08-01

    A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome. PMID:10985003

  7. Velo-cardio-facial syndrome: Frequency and textent of 22q11 deletions

    SciTech Connect

    Lindsay, E.A.; Goldberg, R.; Jurecic, V.

    1995-07-03

    Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phenotype, the evaluation of the incidence of deletions has been hampered by uncertainty of diagnosis. In this study, 54 patients were diagnosed with VCFS by a single group of clinicians using homogeneous clinical criteria independent of the deletion status. Cell lines of these patients were established and the deletion status evaluated for three loci within the commonly deleted region at 22q11.2 using fluorescence in situ hybridization (FISH). In 81% of the patients all three loci were hemizygous. In one patient we observed a smaller interstitial deletion than that defined by the three loci. The phenotype of this patient was not different from that observed in patients with larger deletions. 22 refs., 2 figs., 1 tab.

  8. Genomic characterization of severe acute respiratory syndrome-related coronavirus in European bats and classification of coronaviruses based on partial RNA-dependent RNA polymerase gene sequences.

    PubMed

    Drexler, Jan Felix; Gloza-Rausch, Florian; Glende, Jörg; Corman, Victor Max; Muth, Doreen; Goettsche, Matthias; Seebens, Antje; Niedrig, Matthias; Pfefferle, Susanne; Yordanov, Stoian; Zhelyazkov, Lyubomir; Hermanns, Uwe; Vallo, Peter; Lukashev, Alexander; Müller, Marcel Alexander; Deng, Hongkui; Herrler, Georg; Drosten, Christian

    2010-11-01

    Bats may host emerging viruses, including coronaviruses (CoV). We conducted an evaluation of CoV in rhinolophid and vespertilionid bat species common in Europe. Rhinolophids carried severe acute respiratory syndrome (SARS)-related CoV at high frequencies and concentrations (26% of animals are positive; up to 2.4×10(8) copies per gram of feces), as well as two Alphacoronavirus clades, one novel and one related to the HKU2 clade. All three clades present in Miniopterus bats in China (HKU7, HKU8, and 1A related) were also present in European Miniopterus bats. An additional novel Alphacoronavirus clade (bat CoV [BtCoV]/BNM98-30) was detected in Nyctalus leisleri. A CoV grouping criterion was developed by comparing amino acid identities across an 816-bp fragment of the RNA-dependent RNA polymerases (RdRp) of all accepted mammalian CoV species (RdRp-based grouping units [RGU]). Criteria for defining separate RGU in mammalian CoV were a >4.8% amino acid distance for alphacoronaviruses and a >6.3% distance for betacoronaviruses. All the above-mentioned novel clades represented independent RGU. Strict associations between CoV RGU and host bat genera were confirmed for six independent RGU represented simultaneously in China and Europe. A SARS-related virus (BtCoV/BM48-31/Bulgaria/2008) from a Rhinolophus blasii (Rhi bla) bat was fully sequenced. It is predicted that proteins 3b and 6 were highly divergent from those proteins in all known SARS-related CoV. Open reading frame 8 (ORF8) was surprisingly absent. Surface expression of spike and staining with sera of SARS survivors suggested low antigenic overlap with SARS CoV. However, the receptor binding domain of SARS CoV showed higher similarity with that of BtCoV/BM48-31/Bulgaria/2008 than with that of any Chinese bat-borne CoV. Critical spike domains 472 and 487 were identical and similar, respectively. This study underlines the importance of assessments of the zoonotic potential of widely distributed bat-borne CoV. PMID

  9. Language and Literacy in Turner Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  10. Velo-Cardio-Facial Syndrome: 30 Years of Study

    PubMed Central

    Shprintzen, Robert J.

    2009-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk

  11. Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

    PubMed

    Prodhan, P; Gossett, J M; Rycus, P T; Gupta, P

    2015-11-01

    The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. The ELSO registry database was queried to include all children <18 years undergoing heart surgery for either common atrio-ventricular canal, tetralogy of Fallot, truncus arteriosus or transposition of the great vessels and interrupted aortic arch and requiring ECMO, from 1998-2011. The outcomes evaluated included mortality, ECMO duration and length of hospital stay in patients with del22q11 syndrome and with no del22q11 syndrome. Eighty-eight ECMO runs occurred in children with del22q11 syndrome while 2694 ECMO runs occurred in children without del22q11 syndrome. For patients with heart defects receiving ECMO, del22q11 syndrome did not confer a significant mortality risk or an increased risk of infectious complications before or while on ECMO support. Neither the duration of ECMO nor mechanical ventilation prior to ECMO deployment were prolonged in patients with del22q11 syndrome compared to the controls. PMID:25795680

  12. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

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

  13. Malabsorption Syndromes

    MedlinePlus

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

  14. Analysis of 22q11.2 deletions by FISH in a series of velocardiofacial syndrome patients

    SciTech Connect

    Ravnan, J.B.; Golabi, M.; Lebo, R.V.

    1994-09-01

    Deletions in chromosome 22 band q11.2 have been associated with velocardiofacial (VCF or Shprintzen) syndrome and the DiGeorge anomaly. A study of VCF patients evaluated at the UCSF Medical Center was undertaken to correlate disease phenotype with presence or absence of a deletion. Patients referred for this study had at least two of the following: dysmorphic facial features, frequent ear infections or hearing loss, palate abnormalities, thymic hypoplasia, hypocalcemia, congenital heart defect, hypotonia, and growth or language delay. Fluorescence in situ hybridization (FISH) using the DiGeorge critical region probe N25 was used to classify patients according to the presence or absence of a deletion in 22q11.2, and the results were compared to clinical characteristics. We have completed studies on 58 patients with features of VCF. Twenty-one patients (36%) were found to have a deletion in 22q11.2 by FISH. A retrospective study of archived slides from 14 patients originally studied only by prometaphase GTG banding found six patients had a deletion detected by FISH; of these, only two had a microscopically visible chromosome deletion. Our study of 11 sets of parents of children with the deletion found two clinically affected mothers with the deletion, including one with three of three children clinically affected. A few patients who did not fit the classical VCF description had a 22q11.2 deletion detected by FISH. These included one patient with both cleft lip and palate, and another with developmental delay and typical facial features but no cardiac or palate abnormalities. Both patients with the DiGeorge anomaly as part of VCF had the deletion. On the other hand, a number of patients diagnosed clinically with classical VCF did not have a detectable deletion. This raises the question whether they represent a subset of patients with a defect of 22q11.2 not detected by the N25 probe, or whether they represent a phenocopy of VCF.

  15. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature

    SciTech Connect

    Leana-Cox, J.; Pangkanon, Suthipong; Eanet, K.R.

    1996-11-11

    The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from apparently similar or identical 22q11.2 deletions, suggesting that they represent phenotypic variability of a single genetic syndrome. We report on 12 individuals in five families with del(22)(q11.2) by fluorescent in situ hybridization, and define the frequency of phenotypic abnormalities in those cases and in 70 individuals from 27 del(22)(q11.2) families from the literature. Common manifestations include mental impairment (97%), abnormal face (93%), cardiac malformations (681%), thymic (64%) and parathyroid (63%) abnormalities, and cleft palate or velopharyngeal insufficiency (48%). Familial DG, VCF, and CTAF syndromes due to del(22)(q11.2) show significant inter- and intrafamilial clinical variability consistent with the hypothesis that a single gene or group of tightly linked genes is the common cause of these syndromes. Up to 25% of 22q deletions are inherited, indicating that parents of affected children warrant molecular cytogenetic evaluation. We propose use of the compound term {open_quotes}DiGeorge/velocardiofacial (DGNCF) syndrome{close_quotes} in referring to this condition, as it calls attention to the phenotypic spectrum using historically familiar names. 41 refs., 2 figs., 2 tabs.

  16. [Diagnostic dyspraxia and frontal syndrome].

    PubMed

    Donnet, A; Schmitt, A; Poncet, M

    1998-05-01

    A 27-year-old ambidexter woman experienced a clinical and psychometric frontal syndrome associated with a partial callosal syndrome following transcallosal surgery for an intraventricular neurocytoma. She also complained of difficulties with her left hand which realized a particular form of diagnostic dyspraxia: there were specific features of an isolated dysfunction of the control of the realization of a program. PMID:9773062

  17. Recurrent Miller Fisher syndrome.

    PubMed

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity. PMID:15645989

  18. Turner's syndrome presenting as metabolic bone disease.

    PubMed

    Kamalanathan, Sadishkumar; Balachandran, Karthik; Ananthakrishnan, Ramesh; Hamide, Abdoul

    2012-07-01

    Turner's syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner's syndrome presenting with chronic kidney disease and renal osteodystrophy. PMID:22837932

  19. Molecular characterization of the marker chromosome associated with cat eye syndrome

    SciTech Connect

    Mears, A.J.; McDermid, H.E. ); Duncan, A.M.V. ); Budarf, M.L.; Emanuel, B.S.; Sellinger, B. ); Siegel-Bartelt, J. ); Greenberg, C.R. )

    1994-07-01

    Cat eye syndrome (CES) is associated with a supernumerary bisatellited marker chromosome which is derived from duplicated regions of 22pter-22q11.2. In this study the authors have used dosage and RFLP analyses on 10 CES patients with marker chromosomes, by using probes to five loci mapped to 22q11.2. The sequences recognized by the probes D22S9, D22S43, and D22S57 are in four copies in all patients, but the sequences at the more distal loci, D22S36 and D22S75, are duplicated only in some individuals. D22S36 is present in three copies in some individuals, and D22S75 is present in two copies in the majority of cases. Only three individuals have a duplication of the most distal locus examined (D22S75), and these individuals have the largest marker chromosomes identified in this study. From the dosage analysis it was found that the marker chromosomes are variable in size and can be asymmetric in nature. There is no obvious correlation between the severity of the phenotype and the size of the duplication. The distal boundary of the CES critical region (D22S36) is proximal to that of DiGeorge syndrome, a contiguous-gene-deletion syndrome of 22q11.2. 35 refs., 3 figs., 2 tabs.

  20. Isaac's Syndrome

    MedlinePlus

    ... syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of ... which include progressive muscle stiffness, continuously contracting ...

  1. SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

    ClinicalTrials.gov

    2016-04-19

    22q11 Deletion Syndrome; DiGeorge Syndrome; Trisomy 21; Trisomy 18; Trisomy 13; Monosomy X; Sex Chromosome Abnormalities; Cri-du-Chat Syndrome; Angelman Syndrome; Prader-Willi Syndrome; 1p36 Deletion Syndrome

  2. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

    SciTech Connect

    Li, M.; Zackai, E.H.; Kaplan, P.; Driscoll, D.A.; Niikawa, Norio

    1996-10-16

    Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (1132) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. 16 refs.

  3. Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects

    PubMed Central

    Ganji, Hamid; Salehi, Mansoor; Sedghi, Maryam; Abdali, Hossein; Nouri, Nayereh; Sadri, Leyli; Hosseinzadeh, Majid; Vakili, Bahareh; Lotfi, Mahdi

    2013-01-01

    Background DiGeorge syndrome (DGS) is the result of a microdeletion in chromosome 22q11.2 in over 90% of cases. DGS is the second most frequent syndrome after Down syndrome and has an incidence of 1/4000 births. Unequal crossover between low-copy repeats, on the proximal part of the long arm of chromosome 22, usually results in a 3 Mb deletion in one of the chromosome 22 and a reciprocal and similarly sized duplication on the other one. Several studies have indicated that TBX1 (T-box 1) haploinsufficiency is responsible for many of the phenotypic traits of 22q11.2 deletion syndrome. Conotruncal heart defects (CTDs) are present in 75–85% of patients with 22q11.2 deletion syndrome in Western countries. Methods Among 78 patients fulfilling the criteria for DGS diagnosed by the fluorescence in situ hybridisation test, 24 had 22q11.2 deletion. Screening for TBX1 gene deletion was performed by multiplex ligation-dependent probe amplification (MLPA). Results Our results revealed that of 24 patients with TBX1 gene deletion, 12 had CTDs while 12 did not show any heart defects. Conclusions Our findings indicate that other genes or gene interactions may play a role in penetrance or the severity of heart disease among patients with DGS. PMID:27326128

  4. Partial (focal) seizure

    MedlinePlus

    ... Jacksonian seizure; Seizure - partial (focal); Temporal lobe seizure; Epilepsy - partial seizures ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff RB, ... 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 67. ...

  5. Partial (focal) seizure

    MedlinePlus

    ... Jacksonian seizure; Seizure - partial (focal); Temporal lobe seizure; Epilepsy - partial seizures ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff ... Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 101. ...

  6. Partial tooth gear bearings

    NASA Technical Reports Server (NTRS)

    Vranish, John M. (Inventor)

    2010-01-01

    A partial gear bearing including an upper half, comprising peak partial teeth, and a lower, or bottom, half, comprising valley partial teeth. The upper half also has an integrated roller section between each of the peak partial teeth with a radius equal to the gear pitch radius of the radially outwardly extending peak partial teeth. Conversely, the lower half has an integrated roller section between each of the valley half teeth with a radius also equal to the gear pitch radius of the peak partial teeth. The valley partial teeth extend radially inwardly from its roller section. The peak and valley partial teeth are exactly out of phase with each other, as are the roller sections of the upper and lower halves. Essentially, the end roller bearing of the typical gear bearing has been integrated into the normal gear tooth pattern.

  7. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

    SciTech Connect

    Matsuoka, Rumiko; Takao, Atsuyoshi; Kimura, Misa; Kondo, Chisato; Ando, Masahiko; Momma, Kazuo; Imamura, Shin-ichiro; Joh-o, Kunitaka; Ikeda, Kazuo; Nishibatake, Makoto

    1994-11-15

    The so-called {open_quotes}conotruncal anomaly face syndrome{close_quotes} (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet ring ventricle (DORV), and truncus arteriosus (TAC). CTAFS and the DiGeorge anomaly (DGA) have many similar phenotypic characteristics, suggesting that they share a common cause. In many cases DGA is known to be associated with monosomy for a region of chromosome 22q11.2. Fifty CTAFS patients and 10 DGA patients, 11 parents couples and 10 mothers of CTAFS patients, and 3 parents couples and 2 mothers of DGA patients were examined by fluorescent in situ hybridization (FISH) using the N25 (D22S75) DGCR probe (Oncor). Monosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mothers, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patients, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients who had CHD without CTAF or other know malformation syndromes were examined and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia (CATCH) resulting from 22q11.2 deletions. 20 refs., 3 figs., 2 tabs.

  8. Dravet Syndrome

    MedlinePlus

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

  9. Williams syndrome

    MedlinePlus

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

  10. Brown Syndrome

    MedlinePlus

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

  11. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  12. Cushing syndrome

    MedlinePlus

    ... Cushing disease Cushing syndrome due to adrenal tumor Diabetes Ectopic Cushing syndrome Exogenous Cushing syndrome Kidney stones Pituitary tumor Rheumatoid arthritis Tumor Update Date 10/28/2015 Updated by: ...

  13. A Japanese patient with the Costello syndrome.

    PubMed

    Okamoto, N; Chiyo, H; Imai, K; Otani, K; Futagi, Y

    1994-05-01

    The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone. PMID:8168845

  14. Physics of Partially Ionized Plasmas

    NASA Astrophysics Data System (ADS)

    Krishan, Vinod

    2016-05-01

    Figures; Preface; 1. Partially ionized plasmas here and everywhere; 2. Multifluid description of partially ionized plasmas; 3. Equilibrium of partially ionized plasmas; 4. Waves in partially ionized plasmas; 5. Advanced topics in partially ionized plasmas; 6. Research problems in partially ionized plasmas; Supplementary matter; Index.

  15. Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

    PubMed Central

    Bedeschi, M.F.; Colombo, L.; Mari, F.; Hofmann, K.; Rauch, A.; Gentilin, B.; Renieri, A.; Clerici, D.

    2011-01-01

    Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation. PMID:22140376

  16. Why arthroscopic partial meniscectomy?

    PubMed

    Lyu, Shaw-Ruey

    2015-09-01

    "Arthroscopic Partial Meniscectomy versus Sham Surgery for a Degenerative Meniscal Tear" published in the New England Journal of Medicine on December 26, 2013 draws the conclusion that arthroscopic partial medial meniscectomy provides no significant benefit over sham surgery in patients with a degenerative meniscal tear and no knee osteoarthritis. This result argues against the current practice of performing arthroscopic partial meniscectomy (APM) in patients with a degenerative meniscal tear. Since the number of APM performed has been increasing, the information provided by this study should lead to a change in clinical care of patients with a degenerative meniscus tear. PMID:26488013

  17. GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome.

    PubMed

    Zunner, Dagmar; Deschermeier, Christina; Kornau, Hans-Christian

    2010-03-01

    GABA(B) receptors mediate slow inhibitory effects of the neurotransmitter gamma-aminobutyric acid (GABA) on synaptic transmission in the central nervous system. They function as heterodimeric G-protein-coupled receptors composed of the seven-transmembrane domain proteins GABA(B1) and GABA(B2), which are linked through a coiled-coil interaction. The ligand-binding subunit GABA(B1) is at first retained in the endoplasmic reticulum and is transported to the cell surface only upon assembly with GABA(B2). Here, we report that GABA(B1), via the coiled-coil domain, can also bind to soluble proteins of unknown function, that are affected in 22q11 deletion/DiGeorge syndrome and are therefore referred to as DiGeorge critical region 6 (DGCR6). In transfected neurons the GABA(B1)-DGCR6 association resulted in a redistribution of both proteins into intracellular clusters. Furthermore, the C-terminus of GABA(B2) interfered with the novel interaction, consistent with heterodimer formation overriding transient DGCR6-binding to GABA(B1). Thus, sequential coiled-coil interactions may direct GABA(B1) into functional receptors. PMID:20036641

  18. Pseudoaminopterin syndrome.

    PubMed

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

    2012-09-01

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

  19. Usher Syndrome

    MedlinePlus

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

  20. Morquio syndrome

    MedlinePlus

    ... to have children and who have a family history of Morquio syndrome. Counseling is also recommended for families who have a child with Morquio syndrome to help them understand the condition and possible treatments. Prenatal testing is available.

  1. Asperger syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001549.htm Asperger syndrome To use the sharing features on this page, please enable JavaScript. Asperger syndrome is often considered a high functioning form ...

  2. Piriformis syndrome

    MedlinePlus

    ... sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis References Joseph RL, Alleva JT, Hudgins TH. Piriformis syndrome. In: Frontera: Essentials of Physical Medicine and Rehabilitation . 3rd ed. Philadelphia, PA: Elsevier Saunders; 2014:chap ...

  3. Pendred Syndrome

    MedlinePlus

    ... thyroid gland. Pendred syndrome also can affect the vestibular system, which controls balance. Some people with Pendred syndrome will show vestibular weakness when their balance is tested. However, the ...

  4. Turner Syndrome

    MedlinePlus

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

  5. Premenstrual syndrome

    MedlinePlus

    ... syndrome. Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and premenstrual dysphoric disorder: etiology, diagnosis, management. In: Lentz GM, Lobo RA, Gershenson DM, Katz VL, eds. ...

  6. Cushing syndrome

    MedlinePlus

    ... Cushing syndrome is called exogenous Cushing syndrome . Prednisone, dexamethasone, and prednisolone are examples of this type of ... Blood cortisol levels Blood sugar Saliva cortisol levels Dexamethasone suppression test 24-hour urine for cortisol and ...

  7. Cushing's Syndrome

    MedlinePlus

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  8. Hurler syndrome

    MedlinePlus

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

  9. Bloom's Syndrome

    MedlinePlus

    ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ...

  10. Angelman Syndrome

    MedlinePlus

    ... causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when ... 202-534-3731 Prader-Willi Syndrome Association 8588 Potter Park Drive Suite 500 Sarasota, FL 34238 national@ ...

  11. Asperger syndrome

    MedlinePlus

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

  12. Rett Syndrome

    MedlinePlus

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

  13. Partial knee replacement - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100225.htm Partial knee replacement - series To use the sharing features on ... A.M. Editorial team. Related MedlinePlus Health Topics Knee Replacement A.D.A.M., Inc. is accredited ...

  14. Partial knee replacement

    MedlinePlus

    Most people recover quickly and have much less pain than they did before surgery. People who have a partial knee replacement recover faster than those who have a total knee replacement. Many people are able to walk ...

  15. Twisted partially pure spinors

    NASA Astrophysics Data System (ADS)

    Herrera, Rafael; Tellez, Ivan

    2016-08-01

    Motivated by the relationship between orthogonal complex structures and pure spinors, we define twisted partially pure spinors in order to characterize spinorially subspaces of Euclidean space endowed with a complex structure.

  16. Cognitive Profile of Turner Syndrome

    ERIC Educational Resources Information Center

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  17. Dumping Syndrome

    MedlinePlus

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  18. Down syndrome

    MedlinePlus

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

  19. PARTIAL TORUS INSTABILITY

    SciTech Connect

    Olmedo, Oscar; Zhang Jie

    2010-07-20

    Flux ropes are now generally accepted to be the magnetic configuration of coronal mass ejections (CMEs), which may be formed prior to or during solar eruptions. In this study, we model the flux rope as a current-carrying partial torus loop with its two footpoints anchored in the photosphere, and investigate its stability in the context of the torus instability (TI). Previous studies on TI have focused on the configuration of a circular torus and revealed the existence of a critical decay index of the overlying constraining magnetic field. Our study reveals that the critical index is a function of the fractional number of the partial torus, defined by the ratio between the arc length of the partial torus above the photosphere and the circumference of a circular torus of equal radius. We refer to this finding as the partial torus instability (PTI). It is found that a partial torus with a smaller fractional number has a smaller critical index, thus requiring a more gradually decreasing magnetic field to stabilize the flux rope. On the other hand, a partial torus with a larger fractional number has a larger critical index. In the limit of a circular torus when the fractional number approaches 1, the critical index goes to a maximum value. We demonstrate that the PTI helps us to understand the confinement, growth, and eventual eruption of a flux-rope CME.

  20. Oculocerebral hypopigmentation syndrome (Cross syndrome).

    PubMed

    Ozkan, H; Unsal, E; Köse, G

    1991-01-01

    A typical case of Cross syndrome with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral optic atrophy and dental defects in a three-year-old boy is presented. The clinical features of this rare syndrome are discussed. PMID:1814043

  1. Retinal pigment epithelial change and partial lipodystrophy.

    PubMed Central

    Davis, T. M.; Holdright, D. R.; Schulenberg, W. E.; Turner, R. C.; Joplin, G. F.

    1988-01-01

    Cuticular drusen and retinal pigment epithelial changes were found incidentally in a 27 year old Lebanese woman during assessment of partial lipodystrophy. Her vision was normal despite involvement of both maculae. The patient had hypocomplementaemia, but serum C3 nephritic factor was absent and renal function was normal. She had impaired glucose tolerance and a continuous infusion of glucose with model assessment (CIGMA) test revealed low normal tissue insulin sensitivity and high normal pancreatic beta cell function. Mild fasting hypertriglyceridaemia (2.0 mmol/l) may have been secondary to impaired insulin sensitivity. Endocrine function was otherwise normal apart from a completely absent growth hormone response to adequate hypoglycaemia. The simultaneous occurrence of partial lipodystrophy and retinal pigmentary epithelial and basement membrane changes appears to be a newly recognized syndrome. Images Figure 1 Figure 2 PMID:3255937

  2. Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

    PubMed Central

    Sellier, Chantal; Hwang, Vicki J.; Dandekar, Ravi; Durbin-Johnson, Blythe; Charlet-Berguerand, Nicolas; Ander, Bradley P.; Sharp, Frank R.; Angkustsiri, Kathleen; Simon, Tony J.; Tassone, Flora

    2014-01-01

    Deletion of the 1.5–3 Mb region of chromosome 22 at locus 11.2 gives rise to the chromosome 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge and Velocardiofacial Syndromes. It is the most common micro-deletion disorder in humans and one of the most common multiple malformation syndromes. The syndrome is characterized by a broad phenotype, whose characterization has expanded considerably within the last decade and includes many associated findings such as craniofacial anomalies (40%), conotruncal defects of the heart (CHD; 70–80%), hypocalcemia (20–60%), and a range of neurocognitive anomalies with high risk of schizophrenia, all with a broad phenotypic variability. These phenotypic features are believed to be the result of a change in the copy number or dosage of the genes located in the deleted region. Despite this relatively clear genetic etiology, very little is known about which genes modulate phenotypic variations in humans or if they are due to combinatorial effects of reduced dosage of multiple genes acting in concert. Here, we report on decreased expression levels of genes within the deletion region of chromosome 22, including DGCR8, in peripheral leukocytes derived from individuals with 22q11DS compared to healthy controls. Furthermore, we found dysregulated miRNA expression in individuals with 22q11DS, including miR-150, miR-194 and miR-185. We postulate this to be related to DGCR8 haploinsufficiency as DGCR8 regulates miRNA biogenesis. Importantly we demonstrate that the level of some miRNAs correlates with brain measures, CHD and thyroid abnormalities, suggesting that the dysregulated miRNAs may contribute to these phenotypes and/or represent relevant blood biomarkers of the disease in individuals with 22q11DS. PMID:25084529

  3. Partial spread OFDM

    NASA Astrophysics Data System (ADS)

    Elghariani, Ali; Zoltowski, Michael D.

    2012-05-01

    In this paper, partial spread OFDM system has been presented and its performance has been studied when different detection techniques are employed, such as minimum mean square error (MMSE), grouped Maximum Likelihood (ML) and approximated integer quadratic programming (IQP) techniques . The performance study also includes applying two different spreading matrices, Hadamard and Vandermonde. Extensive computer simulation have been implemented and important results show that partial spread OFDM system improves the BER performance and the frequency diversity of OFDM compared to both non spread and full spread systems. The results from this paper also show that partial spreading technique combined with suboptimal detector could be a better solution for applications that require low receiver complexity and high information detectability.

  4. Methanol partial oxidation reformer

    DOEpatents

    Ahmed, S.; Kumar, R.; Krumpelt, M.

    1999-08-17

    A partial oxidation reformer is described comprising a longitudinally extending chamber having a methanol, water and an air inlet and an outlet. An igniter mechanism is near the inlets for igniting a mixture of methanol and air, while a partial oxidation catalyst in the chamber is spaced from the inlets and converts methanol and oxygen to carbon dioxide and hydrogen. Controlling the oxygen to methanol mole ratio provides continuous slightly exothermic partial oxidation reactions of methanol and air producing hydrogen gas. The liquid is preferably injected in droplets having diameters less than 100 micrometers. The reformer is useful in a propulsion system for a vehicle which supplies a hydrogen-containing gas to the negative electrode of a fuel cell. 7 figs.

  5. Methanol partial oxidation reformer

    DOEpatents

    Ahmed, Shabbir; Kumar, Romesh; Krumpelt, Michael

    1999-01-01

    A partial oxidation reformer comprising a longitudinally extending chamber having a methanol, water and an air inlet and an outlet. An igniter mechanism is near the inlets for igniting a mixture of methanol and air, while a partial oxidation catalyst in the chamber is spaced from the inlets and converts methanol and oxygen to carbon dioxide and hydrogen. Controlling the oxygen to methanol mole ratio provides continuous slightly exothermic partial oxidation reactions of methanol and air producing hydrogen gas. The liquid is preferably injected in droplets having diameters less than 100 micrometers. The reformer is useful in a propulsion system for a vehicle which supplies a hydrogen-containing gas to the negative electrode of a fuel cell.

  6. Methanol partial oxidation reformer

    DOEpatents

    Ahmed, Shabbir; Kumar, Romesh; Krumpelt, Michael

    2001-01-01

    A partial oxidation reformer comprising a longitudinally extending chamber having a methanol, water and an air inlet and an outlet. An igniter mechanism is near the inlets for igniting a mixture of methanol and air, while a partial oxidation catalyst in the chamber is spaced from the inlets and converts methanol and oxygen to carbon dioxide and hydrogen. Controlling the oxygen to methanol mole ratio provides continuous slightly exothermic partial oxidation reactions of methanol and air producing hydrogen gas. The liquid is preferably injected in droplets having diameters less than 100 micrometers. The reformer is useful in a propulsion system for a vehicle which supplies a hydrogen-containing gas to the negative electrode of a fuel cell.

  7. Methanol partial oxidation reformer

    DOEpatents

    Ahmed, S.; Kumar, R.; Krumpelt, M.

    1999-08-24

    A partial oxidation reformer is described comprising a longitudinally extending chamber having a methanol, water and an air inlet and an outlet. An igniter mechanism is near the inlets for igniting a mixture of methanol and air, while a partial oxidation catalyst in the chamber is spaced from the inlets and converts methanol and oxygen to carbon dioxide and hydrogen. Controlling the oxygen to methanol mole ratio provides continuous slightly exothermic partial oxidation reactions of methanol and air producing hydrogen gas. The liquid is preferably injected in droplets having diameters less than 100 micrometers. The reformer is useful in a propulsion system for a vehicle which supplies a hydrogen-containing gas to the negative electrode of a fuel cell. 7 figs.

  8. Oxygen partial pressure sensor

    DOEpatents

    Dees, D.W.

    1994-09-06

    A method for detecting oxygen partial pressure and an oxygen partial pressure sensor are provided. The method for measuring oxygen partial pressure includes contacting oxygen to a solid oxide electrolyte and measuring the subsequent change in electrical conductivity of the solid oxide electrolyte. A solid oxide electrolyte is utilized that contacts both a porous electrode and a nonporous electrode. The electrical conductivity of the solid oxide electrolyte is affected when oxygen from an exhaust stream permeates through the porous electrode to establish an equilibrium of oxygen anions in the electrolyte, thereby displacing electrons throughout the electrolyte to form an electron gradient. By adapting the two electrodes to sense a voltage potential between them, the change in electrolyte conductivity due to oxygen presence can be measured. 1 fig.

  9. Oxygen partial pressure sensor

    DOEpatents

    Dees, Dennis W.

    1994-01-01

    A method for detecting oxygen partial pressure and an oxygen partial pressure sensor are provided. The method for measuring oxygen partial pressure includes contacting oxygen to a solid oxide electrolyte and measuring the subsequent change in electrical conductivity of the solid oxide electrolyte. A solid oxide electrolyte is utilized that contacts both a porous electrode and a nonporous electrode. The electrical conductivity of the solid oxide electrolyte is affected when oxygen from an exhaust stream permeates through the porous electrode to establish an equilibrium of oxygen anions in the electrolyte, thereby displacing electrons throughout the electrolyte to form an electron gradient. By adapting the two electrodes to sense a voltage potential between them, the change in electrolyte conductivity due to oxygen presence can be measured.

  10. Partial Participation Revisited.

    ERIC Educational Resources Information Center

    Ferguson, Dianne L.; Baumgart, Diane

    1991-01-01

    This article reanalyzes the principle of partial participation in integrated educational programing for students with severe or profound disabilities. The article presents four "error patterns" in how the concept has been used, some reasons why such error patterns have occurred, and strategies for avoiding these errors. (Author/JDD)

  11. Partial gravity habitat study

    NASA Technical Reports Server (NTRS)

    Capps, Stephen; Lorandos, Jason; Akhidime, Eval; Bunch, Michael; Lund, Denise; Moore, Nathan; Murakawa, Kiosuke

    1989-01-01

    The purpose of this study is to investigate comprehensive design requirements associated with designing habitats for humans in a partial gravity environment, then to apply them to a lunar base design. Other potential sites for application include planetary surfaces such as Mars, variable-gravity research facilities, and a rotating spacecraft. Design requirements for partial gravity environments include locomotion changes in less than normal earth gravity; facility design issues, such as interior configuration, module diameter, and geometry; and volumetric requirements based on the previous as well as psychological issues involved in prolonged isolation. For application to a lunar base, it is necessary to study the exterior architecture and configuration to insure optimum circulation patterns while providing dual egress; radiation protection issues are addressed to provide a safe and healthy environment for the crew; and finally, the overall site is studied to locate all associated facilities in context with the habitat. Mission planning is not the purpose of this study; therefore, a Lockheed scenario is used as an outline for the lunar base application, which is then modified to meet the project needs. The goal of this report is to formulate facts on human reactions to partial gravity environments, derive design requirements based on these facts, and apply the requirements to a partial gravity situation which, for this study, was a lunar base.

  12. Velocardiofacial syndrome in father and daughter: What is the mechanism for the deletion 22(q11.2q11.2) in only the daughter?

    SciTech Connect

    Magenis, R.E.; Gunter, K.; Toth-Fejel, S.

    1994-09-01

    E.G. had marked feeding difficulty noted at birth; the cause was determined to be a paralyzed palate. In 1992 chromosome studies were performed because of the provisional diagnosis of velocardiofacial syndrome, and a small interstitial deletion of chromosome 22 was found. Recently the family was seen in our Genetics Clinic. The father had unusual facial features shared by his daughter, a paralyzed upper lip and a history of repaired Tetralogy of Fallot. His chromosomes appeared normal. FISH studies were performed on the child`s peripheral blood using the ONCOR DiGeorge region probe (D22S75) and the deletion verified. However, the father`s chromosomes were not deleted for the ONCOR probe (D22S75) and probe DO832 sent to us by Peter Scambler. Skin cells were then obtained and no deletion was detected in a total of 66 cells examined using both probes. Several questions arise from these data: does the father have velocardiofacial syndrome? Does he have occult mosaicism? Does he have a molecular deletion not detected by the probes used? And was this deletion somehow {open_quotes}amplified{close_quotes} in his daughter?

  13. [CENTRAL ANTICHOLINERGIC... SYNDROME?].

    PubMed

    Danilov, M S; Lebedinskii, K M

    2015-01-01

    While reading special literature in diferent languages the authors noted surprising fact: the term and concept of "central anticholinergic syndrome" is well-known as common anaesthesia complication in German (abbr: ZAS) and partially Spanish sources, but in Russian, English or French literature is used only in toxicological context. Describing etiology, pathogenesis, symptoms, diagnosis and treatment of the complication manifesting with comatose, agitated or shivering forms, the authors analyzing the reasons for such a noticeably diferent approaches to the situation reaching 10% of all the general anaesthesia cases. Probably, ZAS isn't nosologically clearly defined syndrome, but just adverse appearance of one of the fundamental general anaesthesia mechanisms? Anyway, the problem of central cholinergic activity suppression, excessive by its amplitude and/or duration, exists all over the world. German concept of ZAS allows the anaesthesiologist to resolve it on pathogenically generalized basis, while in other professional communities various symptomatic approaches seem to be more common. PMID:27025142

  14. Overgrowth Syndromes.

    PubMed

    Edmondson, Andrew C; Kalish, Jennifer M

    2015-09-01

    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. PMID:27617124

  15. Lutembacher's syndrome

    PubMed Central

    Kulkarni, Sandhya S.; Sakaria, Amit K.; Mahajan, Sanket K.; Shah, Kuldeep B.

    2012-01-01

    The definition of Lutembacher's syndrome has undergone many changes. It refers to combination of congenital Atrial Septal Defect with acquired mitral stenosis. Lutembacher's syndrome is a very rare disease and in the past, it has been either overdiagnosed or misdiagnosed. Here, we will discuss a case of a pregnant lady who developed breathlessness during her third trimester of pregnancy and on detailed examination and investigation, she was found to be having Lutembacher's syndrome. PMID:22629045

  16. An adolescent girl referred with Cushing syndrome--does she or does she not have the syndrome?

    PubMed

    Kao, Kung-Ting; Zacharin, Margaret

    2016-01-01

    Cushing syndrome and lipodystrophy syndromes share similar clinical features. This report describes an adolescent girl with newly diagnosed familial partial lipodystrophy type 2 (FPLD2) who was initially referred for Cushing syndrome. The type of abnormal fat deposition syndrome can be elucidated by careful clinical examination. FPLD2 can lead to type 2 diabetes mellitus and early cardiovascular events. Partial lipodystrophy presenting for the first time in adolescence can be mistaken for corticosteroid excess. Early diagnosis and preventative management of cardiovascular risk factors are crucial. PMID:26677885

  17. Sanfilippo syndrome

    MedlinePlus

    ... for families who have a child with Sanfilippo syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names MPS III References Pyeritz ...

  18. Sheehan syndrome

    MedlinePlus

    Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome ... Malee MP. Pituitary and adrenal disorders in pregnancy. In: Gabbe ... Problem Pregnancies . 6th ed. Philadelphia, PA: Elsevier Mosby; ...

  19. Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.

    PubMed

    Wolff, D J

    2000-11-01

    Turner syndrome is a clinically defined phenotype that is characterized by partial or complete X chromosome monosomy. A host of cytogenetic aberrations and mosaicism have been associated with this syndrome. Some individuals, Turner syndrome variants, have cytogenetic findings consistent with Turner syndrome, but exhibit atypical clinical phenotypes. Recently, several molecular tests have been presented to allow for the refined clinical study of Turner syndrome and its variants. PMID:11216383

  20. Prenatal screening tests may be a warning for the partial molar pregnancy? case report

    PubMed Central

    Sargin, Mehmet Akif; Tug, Niyazi; Yassa, Murat; Yavuz, Arzu

    2015-01-01

    Prenatal screening tests are frequently requested for chromosomal abnormalities. Placental pathologies in early pregnancy may be overlooked, especially in partial molar pregnancy. We are reporting an incorrect preliminary diagnosed case with an increased risk of Down syndrome in her first-trimester screening test due to partial molar pregnancy. PMID:26175814

  1. Partially coherent ultrafast spectrography

    NASA Astrophysics Data System (ADS)

    Bourassin-Bouchet, C.; Couprie, M.-E.

    2015-03-01

    Modern ultrafast metrology relies on the postulate that the pulse to be measured is fully coherent, that is, that it can be completely described by its spectrum and spectral phase. However, synthesizing fully coherent pulses is not always possible in practice, especially in the domain of emerging ultrashort X-ray sources where temporal metrology is strongly needed. Here we demonstrate how frequency-resolved optical gating (FROG), the first and one of the most widespread techniques for pulse characterization, can be adapted to measure partially coherent pulses even down to the attosecond timescale. No modification of experimental apparatuses is required; only the processing of the measurement changes. To do so, we take our inspiration from other branches of physics where partial coherence is routinely dealt with, such as quantum optics and coherent diffractive imaging. This will have important and immediate applications, such as enabling the measurement of X-ray free-electron laser pulses despite timing jitter.

  2. Partially integrated exhaust manifold

    DOEpatents

    Hayman, Alan W; Baker, Rodney E

    2015-01-20

    A partially integrated manifold assembly is disclosed which improves performance, reduces cost and provides efficient packaging of engine components. The partially integrated manifold assembly includes a first leg extending from a first port and terminating at a mounting flange for an exhaust gas control valve. Multiple additional legs (depending on the total number of cylinders) are integrally formed with the cylinder head assembly and extend from the ports of the associated cylinder and terminate at an exit port flange. These additional legs are longer than the first leg such that the exit port flange is spaced apart from the mounting flange. This configuration provides increased packaging space adjacent the first leg for any valving that may be required to control the direction and destination of exhaust flow in recirculation to an EGR valve or downstream to a catalytic converter.

  3. Partially coherent ultrafast spectrography

    PubMed Central

    Bourassin-Bouchet, C.; Couprie, M.-E.

    2015-01-01

    Modern ultrafast metrology relies on the postulate that the pulse to be measured is fully coherent, that is, that it can be completely described by its spectrum and spectral phase. However, synthesizing fully coherent pulses is not always possible in practice, especially in the domain of emerging ultrashort X-ray sources where temporal metrology is strongly needed. Here we demonstrate how frequency-resolved optical gating (FROG), the first and one of the most widespread techniques for pulse characterization, can be adapted to measure partially coherent pulses even down to the attosecond timescale. No modification of experimental apparatuses is required; only the processing of the measurement changes. To do so, we take our inspiration from other branches of physics where partial coherence is routinely dealt with, such as quantum optics and coherent diffractive imaging. This will have important and immediate applications, such as enabling the measurement of X-ray free-electron laser pulses despite timing jitter. PMID:25744080

  4. Partial quantum logics revisited

    NASA Astrophysics Data System (ADS)

    Vetterlein, Thomas

    2011-01-01

    Partial Boolean algebras (PBAs) were introduced by Kochen and Specker as an algebraic model reflecting the mutual relationships among quantum-physical yes-no tests. The fact that not all pairs of tests are compatible was taken into special account. In this paper, we review PBAs from two sides. First, we generalise the concept, taking into account also those yes-no tests which are based on unsharp measurements. Namely, we introduce partial MV-algebras, and we define a corresponding logic. Second, we turn to the representation theory of PBAs. In analogy to the case of orthomodular lattices, we give conditions for a PBA to be isomorphic to the PBA of closed subspaces of a complex Hilbert space. Hereby, we do not restrict ourselves to purely algebraic statements; we rather give preference to conditions involving automorphisms of a PBA. We conclude by outlining a critical view on the logico-algebraic approach to the foundational problem of quantum physics.

  5. Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations

    PubMed Central

    Reddy, R Raghunatha; Babu, Balaji M; Venkateshwaramma, B; Hymavathi, CH

    2011-01-01

    Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as “silvery hair syndrome,” consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. GS is also a rare autosomal recessive disorder characterized by reduced skin pigmentation, often regarded as partial albinism and silvery grey hair combined with immunodeficiency. To make correct diagnosis and to differentiate between CHS and GS, it requires light microscopic examination of skin and hair shafts, immunological and peripheral blood smear evaluation. They have been reported to be associated with some common clinical association as a part of the syndrome due to pigmentary delusion, neurological dysfunction, and severe life-threatening infections due to neutrophil phagocytosis dysfunction. There are reports of few rare associations and varied presentations and variable mean survival age. We report two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family. PMID:22223973

  6. Marfan Syndrome

    MedlinePlus

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

  7. Tourette Syndrome.

    ERIC Educational Resources Information Center

    Look, Kathy

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

  8. Marfan Syndrome

    MedlinePlus

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

  9. Turner syndrome

    MedlinePlus

    ... at birth is often smaller than average. A child with Turner syndrome is much shorter than children who are the ... Growth hormone may help a child with Turner syndrome grow taller. ... started when the girl is 12 or 13 years old. These help trigger ...

  10. Familial 'sleep apnea plus' syndrome: report of a family.

    PubMed

    Manon-Espaillat, R; Gothe, B; Adams, N; Newman, C; Ruff, R

    1988-02-01

    We describe a familial disorder consisting of sleep apnea, anosmia, colorblindness, partial complex seizures, and cognitive dysfunction. The phenotypic expression of the syndrome suggests an autosomal dominant inheritance with incomplete penetrance. PMID:3257550

  11. Acute renal injury after partial hepatectomy

    PubMed Central

    Peres, Luis Alberto Batista; Bredt, Luis Cesar; Cipriani, Raphael Flavio Fachini

    2016-01-01

    Currently, partial hepatectomy is the treatment of choice for a wide variety of liver and biliary conditions. Among the possible complications of partial hepatectomy, acute kidney injury (AKI) should be considered as an important cause of increased morbidity and postoperative mortality. Difficulties in the data analysis related to postoperative AKI after liver resections are mainly due to the multiplicity of factors to be considered in the surgical patients, moreover, there is no consensus of the exact definition of AKI after liver resection in the literature, which hampers comparison and analysis of the scarce data published on the subject. Despite this multiplicity of risk factors for postoperative AKI after partial hepatectomy, there are main factors that clearly contribute to its occurrence. First factor relates to large blood losses with renal hypoperfusion during the operation, second factor relates to the occurrence of post-hepatectomy liver failure with consequent distributive circulatory changes and hepatorenal syndrome. Eventually, patients can have more than one factor contributing to post-operative AKI, and frequently these combinations of acute insults can be aggravated by sepsis or exposure to nephrotoxic drugs. PMID:27478539

  12. Acute renal injury after partial hepatectomy.

    PubMed

    Peres, Luis Alberto Batista; Bredt, Luis Cesar; Cipriani, Raphael Flavio Fachini

    2016-07-28

    Currently, partial hepatectomy is the treatment of choice for a wide variety of liver and biliary conditions. Among the possible complications of partial hepatectomy, acute kidney injury (AKI) should be considered as an important cause of increased morbidity and postoperative mortality. Difficulties in the data analysis related to postoperative AKI after liver resections are mainly due to the multiplicity of factors to be considered in the surgical patients, moreover, there is no consensus of the exact definition of AKI after liver resection in the literature, which hampers comparison and analysis of the scarce data published on the subject. Despite this multiplicity of risk factors for postoperative AKI after partial hepatectomy, there are main factors that clearly contribute to its occurrence. First factor relates to large blood losses with renal hypoperfusion during the operation, second factor relates to the occurrence of post-hepatectomy liver failure with consequent distributive circulatory changes and hepatorenal syndrome. Eventually, patients can have more than one factor contributing to post-operative AKI, and frequently these combinations of acute insults can be aggravated by sepsis or exposure to nephrotoxic drugs. PMID:27478539

  13. Craniofacial Syndrome Descriptions

    MedlinePlus

    ... with this syndrome do not have a smile). Miller syndrome Miller Syndrome is very rare condition characterized by downward ... dysplasia • Hemangioma • Hemifacial Microsomia / Goldenhar syndrome • Microtia/Atresia • Miller syndrome • Moebius syndrome • Nager syndrome • Pierre Robin Sequence • ...

  14. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

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

  15. Neurocutaneous syndromes.

    PubMed

    Klar, Nitasha; Cohen, Bernard; Lin, Doris D M

    2016-01-01

    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases. Many of these syndromes are markedly heterogeneous in nature as they affect many organ systems. Given the incurable nature of these conditions and the broad spectrum of pathologies they comprise, treatments vary on a case-by-case basis and tend to be palliative rather than curative. With the advances in molecular genetics, however, greater understanding of biologic functions of the gene products and the correlative phenotypic expression is being attained, and this knowledge may guide future therapeutic developments. This chapter focuses on the cutaneous and neurologic pathology with emphasis on neuroimaging of selective neurocutaneous syndromes, including tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti. PMID:27432683

  16. General classification of partially polarized partially coherent beams

    NASA Astrophysics Data System (ADS)

    Martinez-Herrero, Rosario; Piquero, Gemma; Mejias, Pedro M.

    2003-05-01

    The behavior of the so-called generalized degree of polarization of partially coherent partially polarized beams upon free propagation is investigated. On the basis of this parameter a general classification scheme of partially polarized beams is proposed. The results are applied to certain classes of fields of special interest.

  17. Experts' Understanding of Partial Derivatives Using the Partial Derivative Machine

    ERIC Educational Resources Information Center

    Roundy, David; Weber, Eric; Dray, Tevian; Bajracharya, Rabindra R.; Dorko, Allison; Smith, Emily M.; Manogue, Corinne A.

    2015-01-01

    Partial derivatives are used in a variety of different ways within physics. Thermodynamics, in particular, uses partial derivatives in ways that students often find especially confusing. We are at the beginning of a study of the teaching of partial derivatives, with a goal of better aligning the teaching of multivariable calculus with the needs of…

  18. Hubris syndrome.

    PubMed

    Owen, David

    2008-08-01

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

  19. LEOPARD Syndrome.

    PubMed

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

    2015-10-01

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

  20. [Aarskog's syndrome].

    PubMed

    Hromádková, L; Frána, L

    1991-05-01

    The authors described the rare Aarskog syndrome in a 6-year-old boy, associated with left-sided Brown's syndrome. Another 4-year-old boy came from an affected family where the brother suffered also from Aarskog's syndrome and in the mother some microsymptoms were detected. The authors recommend that patients who on examination of a refraction defect or strabism display uncommon features in the face or other parts of the body should be always subjected to a general examination incl. genetic examination. PMID:1913912

  1. [DRESS syndrome].

    PubMed

    Adamcová, Monika; Šturdík, Igor; Koller, Tomáš; Payer, Juraj

    2016-04-01

    DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is severe drug-induced allergic-type reaction which occurs few days to weeks after taking a drug in a predisposed patient. Organ damage, eosinophilia and skin rash are typical at presentation. Corticotherapy is often necessary in severe cases. In this report we describe a case of 56-year old female with fever, elevated liver tests and skin rash. DRESS syndrome was diagnosed and allopurinol was indentified as a causative drug. Due to possible fatal outcome, DRESS syndrome should be considered in a differential diagnosis of all patients presenting with similar signs and symptoms. PMID:27250614

  2. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

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

  3. Alport syndrome

    MedlinePlus

    ... rarest type. Males and females have equally severe disease. Symptoms KIDNEYS With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged. ...

  4. Nephrotic Syndrome

    MedlinePlus

    ... Safety Doctors & Hospitals Q&A Recipes En Español Teachers - Looking for Health Lessons? Visit KidsHealth in the ... of certain legal and illegal drugs, or morbid obesity can lead to nephrotic syndrome. Symptoms Some kids ...

  5. Klinefelter syndrome

    MedlinePlus

    ... proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) Infertility Sexual problems Less than normal amount of pubic, armpit, and facial hair Small, firm testicles Tall height Exams and Tests Klinefelter syndrome may first be ...

  6. [Sneddon syndrome].

    PubMed

    Berchtold, B; Hunziker, T; Zala, L; Braathen, L R

    1991-05-01

    A 44-year-old female with Sneddon's syndrome, i.e. generalized racemose livedo and recurrent cerebrovascular disease, is presented. Significant levels of IgG anticardiolipin antibodies were found in her serum. PMID:1874623

  7. Proteus Syndrome

    MedlinePlus

    Our Blog Newsletter Home About Us The PSF Provides Board of Directors Medical Advisory Board International Affiliates Proteus Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift ...

  8. Metabolic Syndrome

    MedlinePlus

    ... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

  9. Wallenberg's Syndrome

    MedlinePlus

    ... Some people with Wallenberg’s syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk. Is there any treatment? Treatment ...

  10. Scheie syndrome

    MedlinePlus

    ... for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names Mucopolysaccharidosis type I S; MPS ...

  11. Apert syndrome

    MedlinePlus

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

  12. Alport Syndrome

    MedlinePlus

    ... medicines (medications to control high blood pressure) Diuretics (water pills) Limit sodium (salt) in your diet If you are approaching kidney disease because of Alport syndrome, a ... NY Register Now 2016 Orangeburg Kidney Walk Thu, ...

  13. Duane Syndrome

    MedlinePlus

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

  14. Behcet's Syndrome

    MedlinePlus

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

  15. Marfan Syndrome

    MedlinePlus

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

  16. Paraneoplastic Syndromes

    MedlinePlus

    ... used to determine effective treatment strategies. NIH Patient Recruitment for Paraneoplastic Syndromes Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 American Autoimmune Related Diseases Association 22100 ...

  17. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

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

  18. Hunter syndrome

    MedlinePlus

    Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides ) are ... of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body ...

  19. Malabsorption Syndromes

    MedlinePlus

    ... They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.

  20. Compartment syndrome

    MedlinePlus

    ... caused by repetitive activities, such as running. The pressure in a compartment only increases during that activity. Compartment syndrome is most common in the lower leg and forearm. It can also occur in the hand, foot, thigh, and upper arm.

  1. Sotos Syndrome

    MedlinePlus

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

  2. Down Syndrome

    MedlinePlus

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

  3. Compartment syndrome

    MedlinePlus

    ... Jobe MT. Compartment syndromes and Volkmann contracture. In: Canale ST, Beaty JH, eds. Campbell's Operative Orthopaedics . 12th ed. ... and Shoulder Service, UCSF Department of Orthopaedic Surgery, San Francisco, CA. Also reviewed by David Zieve, MD, MHA, ...

  4. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  5. Reifenstein syndrome

    MedlinePlus

    ... with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors. The syndrome is estimated to affect 1 in 99,000 people.

  6. [DIDMOAD syndrome].

    PubMed

    Alicanoğlu, R; Canbakan, B; Yildiz, N; Arikan, E; Kundur, H; Bahtiyar, K; Sayali, E

    1994-01-01

    The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed. PMID:8023526

  7. Aase syndrome

    MedlinePlus

    ... make ribosomal proteins) This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not ... chromosome 19 is found in some people with Diamond-Blackfan anemia. The anemia in Aase syndrome is ...

  8. Piriformis syndrome

    MedlinePlus

    ... sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... or numbness in the buttock and along the back of the leg Difficulty sitting Pain from sitting that grows worse as you continue ...

  9. Menkes syndrome

    MedlinePlus

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

  10. Waardenburg syndrome

    MedlinePlus

    ... conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. ... Symptoms may include: Cleft lip (rare) Constipation Deafness (more ... that don't match ( heterochromia ) Pale color skin, hair, and ...

  11. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  12. HELLP syndrome

    MedlinePlus

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

  13. Hunter syndrome

    MedlinePlus

    Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

  14. Down syndrome

    MedlinePlus

    ... their limitations, they may also feel frustration and anger. Many different medical conditions are seen in people ... syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and ...

  15. Sanfilippo syndrome

    MedlinePlus

    ... syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III. ... PA: Elsevier Saunders; 2015:chap 260. Spranger J. Mucopolysaccharidoses. In: Kliegman RM, Behrman RE, Jenson HB, Stanton ...

  16. [Heptopulmonary syndrome].

    PubMed

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  17. Joubert Syndrome

    MedlinePlus

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

  18. Beals Syndrome

    MedlinePlus

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  19. Klinefelter Syndrome

    MedlinePlus

    ... Text Search" box. Then click "Submit Query". Organizations Organizations Listen Nonprofit support and advocacy groups bring together ... endorsement by GARD. Suggest an organization to add. Organizations Supporting this Disease American Association for Klinefelter Syndrome ...

  20. Scimitar syndrome and evolution of managements

    PubMed Central

    Kahrom, Mahdi; Kahrom, Hadi

    2009-01-01

    The Scimitar syndrome is a rare congenital anomaly that consists in part of total or partial anomalous venous drainage of the right lung to the inferior vena cava (IVC). This descending vein is visible on CXR as a curvilinear density along the right heart border and resembles the curved Turkish sword that gives the condition its name. Scimitar syndrome forms part of the large spectrum of associated conditions known as venolobar syndrome. These include right lung hypoplasia or sequestered segments of the right lung, congenital heart disease and various others. Surgical approaches to the Scimitar syndrome have varied according to the anatomic and pathologic features presented in each case. Here we review the clinical signs and symptoms, diagnostic dilemmas, current medical and surgical managements of Scimitar syndrome. PMID:21532729

  1. [Netherton syndrome].

    PubMed

    Serra-Guillén, Carlos; Torrelo, Antonio; Drake, Marta; Armesto, Susana; Fernández-Llaca, Héctor; Zambrano, Antonio

    2006-06-01

    Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. PMID:16956571

  2. Noonan syndrome

    PubMed Central

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

    2014-01-01

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

  3. Alagille syndrome.

    PubMed Central

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

    1997-01-01

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

  4. Partially segmented deformable mirror

    DOEpatents

    Bliss, Erlan S.; Smith, James R.; Salmon, J. Thaddeus; Monjes, Julio A.

    1991-01-01

    A partially segmented deformable mirror is formed with a mirror plate having a smooth and continuous front surface and a plurality of actuators to its back surface. The back surface is divided into triangular areas which are mutually separated by grooves. The grooves are deep enough to make the plate deformable and the actuators for displacing the mirror plate in the direction normal to its surface are inserted in the grooves at the vertices of the triangular areas. Each actuator includes a transducer supported by a receptacle with outer shells having outer surfaces. The vertices have inner walls which are approximately perpendicular to the mirror surface and make planar contacts with the outer surfaces of the outer shells. The adhesive which is used on these contact surfaces tends to contract when it dries but the outer shells can bend and serve to minimize the tendency of the mirror to warp.

  5. Partially segmented deformable mirror

    DOEpatents

    Bliss, E.S.; Smith, J.R.; Salmon, J.T.; Monjes, J.A.

    1991-05-21

    A partially segmented deformable mirror is formed with a mirror plate having a smooth and continuous front surface and a plurality of actuators to its back surface. The back surface is divided into triangular areas which are mutually separated by grooves. The grooves are deep enough to make the plate deformable and the actuators for displacing the mirror plate in the direction normal to its surface are inserted in the grooves at the vertices of the triangular areas. Each actuator includes a transducer supported by a receptacle with outer shells having outer surfaces. The vertices have inner walls which are approximately perpendicular to the mirror surface and make planar contacts with the outer surfaces of the outer shells. The adhesive which is used on these contact surfaces tends to contract when it dries but the outer shells can bend and serve to minimize the tendency of the mirror to warp. 5 figures.

  6. Partial oxidation catalyst

    DOEpatents

    Krumpelt, Michael; Ahmed, Shabbir; Kumar, Romesh; Doshi, Rajiv

    2000-01-01

    A two-part catalyst comprising a dehydrogenation portion and an oxide-ion conducting portion. The dehydrogenation portion is a group VIII metal and the oxide-ion conducting portion is selected from a ceramic oxide crystallizing in the fluorite or perovskite structure. There is also disclosed a method of forming a hydrogen rich gas from a source of hydrocarbon fuel in which the hydrocarbon fuel contacts a two-part catalyst comprising a dehydrogenation portion and an oxide-ion conducting portion at a temperature not less than about 400.degree. C. for a time sufficient to generate the hydrogen rich gas while maintaining CO content less than about 5 volume percent. There is also disclosed a method of forming partially oxidized hydrocarbons from ethanes in which ethane gas contacts a two-part catalyst comprising a dehydrogenation portion and an oxide-ion conducting portion for a time and at a temperature sufficient to form an oxide.

  7. Cri du chat syndrome

    MedlinePlus

    ... syndrome who wish to become pregnant may consider genetic counseling. Alternative Names Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome References Bacino CA, Lee B. Cytogenetics. ...

  8. Holmes-Adie Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Holmes-Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's ... research is being done? Clinical Trials What is Holmes-Adie syndrome ? Holmes-Adie syndrome (HAS) is a ...

  9. Anesthesia & Down Syndrome

    MedlinePlus

    ... occur in individuals with Down syndrome than their peers without Down syndrome. An awareness of these more ... of the eyes, ears, and joints - just like peers without Down syndrome. What About Down Syndrome Is ...

  10. Hyperimmunoglobulin E syndrome

    MedlinePlus

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

  11. Androgen insensitivity syndrome

    MedlinePlus

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

  12. Sexuality and Down Syndrome

    MedlinePlus

    ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ...

  13. Tics and Tourette Syndrome

    MedlinePlus

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

  14. Down Syndrome (For Kids)

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  15. Partial splenic artery embolization in cirrhotic patients

    PubMed Central

    Hadduck, Tyson A; McWilliams, Justin P

    2014-01-01

    Splenomegaly is a common sequela of cirrhosis, and is frequently associated with decreased hematologic indices including thrombocytopenia and leukopenia. Partial splenic artery embolization (PSE) has been demonstrated to effectively increase hematologic indices in cirrhotic patients with splenomegaly. This is particularly valuable amongst those cirrhotic patients who are not viable candidates for splenectomy. Although PSE was originally developed decades ago, it has recently received increased attention. Presently, PSE is being utilized to address a number of clinical concerns in the setting of cirrhosis, including: decreased hematologic indices, portal hypertension and its associated sequela, and splenic artery steal syndrome. Following PSE patients demonstrate significant increases in platelets and leukocytes. Though progressive decline of hematologic indices occur following PSE, they remain improved as compared to pre-procedural values over long-term follow-up. PSE, however, is not without risk and complications of the procedure may occur. The most common complication of PSE is post-embolization syndrome, which involves a constellation of symptoms including fever, pain, and nausea/vomiting. The rate of complications has been shown to increase as the percent of total splenic volume embolized increases. The purpose of this review is to explore the current literature in regards to PSE in cirrhotic patients and to highlight their techniques, and statistically summarize their results and associated complications. PMID:24876920

  16. Why Metabolic Syndrome Matters

    MedlinePlus

    ... Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

  17. Partially supervised speaker clustering.

    PubMed

    Tang, Hao; Chu, Stephen Mingyu; Hasegawa-Johnson, Mark; Huang, Thomas S

    2012-05-01

    Content-based multimedia indexing, retrieval, and processing as well as multimedia databases demand the structuring of the media content (image, audio, video, text, etc.), one significant goal being to associate the identity of the content to the individual segments of the signals. In this paper, we specifically address the problem of speaker clustering, the task of assigning every speech utterance in an audio stream to its speaker. We offer a complete treatment to the idea of partially supervised speaker clustering, which refers to the use of our prior knowledge of speakers in general to assist the unsupervised speaker clustering process. By means of an independent training data set, we encode the prior knowledge at the various stages of the speaker clustering pipeline via 1) learning a speaker-discriminative acoustic feature transformation, 2) learning a universal speaker prior model, and 3) learning a discriminative speaker subspace, or equivalently, a speaker-discriminative distance metric. We study the directional scattering property of the Gaussian mixture model (GMM) mean supervector representation of utterances in the high-dimensional space, and advocate exploiting this property by using the cosine distance metric instead of the euclidean distance metric for speaker clustering in the GMM mean supervector space. We propose to perform discriminant analysis based on the cosine distance metric, which leads to a novel distance metric learning algorithm—linear spherical discriminant analysis (LSDA). We show that the proposed LSDA formulation can be systematically solved within the elegant graph embedding general dimensionality reduction framework. Our speaker clustering experiments on the GALE database clearly indicate that 1) our speaker clustering methods based on the GMM mean supervector representation and vector-based distance metrics outperform traditional speaker clustering methods based on the “bag of acoustic features” representation and statistical

  18. Antiphospholipid syndrome.

    PubMed

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  19. Preexcitation Syndromes.

    PubMed

    Bhatia, Atul; Sra, Jasbir; Akhtar, Masood

    2016-03-01

    The classic electrocardiogram in Wolff-Parkinson-White (WPW) syndrome is characterized by a short PR interval and prolonged QRS duration in the presence of sinus rhythm with initial slurring. The clinical syndrome associated with above electrocardiogram finding and the history of paroxysmal supraventricular tachycardia is referred to as Wolff-Parkinson-White syndrome. Various eponyms describing accessory or anomalous conduction pathways in addition to the normal pathway are collectively referred to as preexcitation syndromes. The latter form and associated eponyms are frequently used in literature despite controversy and disagreements over their actual anatomical existence and electrophysiological significance. This communication highlights inherent deficiencies in the knowledge that has existed since the use of such eponyms began. With the advent of curative ablation, initially surgical, and then catheter based, the knowledge gaps have been mostly filled with better delineation of the anatomic and electrophysiological properties of anomalous atrioventricular pathways. It seems reasonable, therefore, to revisit the clinical and electrophysiologic role of preexcitation syndromes in current practice. PMID:26897561

  20. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

    PubMed Central

    Meechan, Daniel W.; Tucker, Eric S.; Maynard, Thomas M.; LaMantia, Anthony-Samuel

    2009-01-01

    The 22q11 deletion (or DiGeorge) syndrome (22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in dramatically increased susceptibility for “diseases of cortical connectivity” thought to arise during development, including schizophrenia and autism. We show that diminished dosage of the genes deleted in the 1.5-megabase 22q11 minimal critical deleted region in a mouse model of 22q11DS specifically compromises neurogenesis and subsequent differentiation in the cerebral cortex. Proliferation of basal, but not apical, progenitors is disrupted, and subsequently, the frequency of layer 2/3, but not layer 5/6, projection neurons is altered. This change is paralleled by aberrant distribution of parvalbumin-labeled interneurons in upper and lower cortical layers. Deletion of Tbx1 or Prodh (22q11 genes independently associated with 22q11DS phenotypes) does not similarly disrupt basal progenitors. However, expression analysis implicates additional 22q11 genes that are selectively expressed in cortical precursors. Thus, diminished 22q11 gene dosage disrupts cortical neurogenesis and interneuron migration. Such developmental disruption may alter cortical circuitry and establish vulnerability for developmental disorders, including schizophrenia and autism. PMID:19805316

  1. Partial hepatectomy in mice.

    PubMed

    Nevzorova, Y A; Tolba, R; Trautwein, C; Liedtke, C

    2015-04-01

    The surgical procedure of two-thirds partial hepatectomy (PH) in rodents was first described more than 80 years ago by Higgins and Anderson. Nevertheless, this technique is still a state-of-the-art method for the community of liver researchers as it allows the in-depth analysis of signalling pathways involved in liver regeneration and hepatocarcinogenesis. The importance of PH as a key method in experimental hepatology has even increased in the last decade due to the increasing availability of genetically-modified mouse strains. Here, we propose a standard operating procedure (SOP) for the implementation of PH in mice, which is based on our experience of more than 10 years. In particular, the SOP offers all relevant background information on the PH model and provides comprehensive guidelines for planning and performing PH experiments. We provide established recommendations regarding optimal age and gender of animals, use of appropriate anaesthesia and biometric calculation of the experiments. We finally present an easy-to-follow step-by-step description of the complete surgical procedure including required materials, critical steps and postoperative management. This SOP especially takes into account the latest changes in animal welfare rules in the European Union but is still in agreement with current international regulations. In summary, this article provides comprehensive information for the legal application, design and implementation of PH experiments. PMID:25835741

  2. Partial covariate adjusted regression

    PubMed Central

    Şentürk, Damla; Nguyen, Danh V.

    2008-01-01

    Covariate adjusted regression (CAR) is a recently proposed adjustment method for regression analysis where both the response and predictors are not directly observed (Şentürk and Müller, 2005). The available data has been distorted by unknown functions of an observable confounding covariate. CAR provides consistent estimators for the coefficients of the regression between the variables of interest, adjusted for the confounder. We develop a broader class of partial covariate adjusted regression (PCAR) models to accommodate both distorted and undistorted (adjusted/unadjusted) predictors. The PCAR model allows for unadjusted predictors, such as age, gender and demographic variables, which are common in the analysis of biomedical and epidemiological data. The available estimation and inference procedures for CAR are shown to be invalid for the proposed PCAR model. We propose new estimators and develop new inference tools for the more general PCAR setting. In particular, we establish the asymptotic normality of the proposed estimators and propose consistent estimators of their asymptotic variances. Finite sample properties of the proposed estimators are investigated using simulation studies and the method is also illustrated with a Pima Indians diabetes data set. PMID:20126296

  3. Increased Levels of Interferon-Inducible Protein 10 (IP-10) in 22q11.2 Deletion Syndrome.

    PubMed

    Aresvik, D M; Lima, K; Øverland, T; Mollnes, T E; Abrahamsen, T G

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:4000 births. These patients may suffer from affection of many organ systems with cardiac malformations, thymic hypoplasia or aplasia, hypoparathyroidism, palate anomalies and psychiatric disorders being the most frequent. The incidence of autoimmune diseases is increased in older patients. The aim of the present study was to examine a cytokine profile in patients with 22q11.2 DS by measuring a broad spectrum of serum cytokines. Patients with a proven deletion of chromosome 22q11.2 (n = 55) and healthy individuals (n = 54) recruited from an age- and sex-comparable group were included in the study. Serum levels of 27 cytokines, including chemokines and growth factors, were analysed using multiplex technology. Interferon-inducible protein 10 (IP-10) was also measured by ELISA to confirm the multiplex results. The 22q11.2 DS patients had distinctly and significantly raised levels of pro-inflammatory and angiostatic chemokine IP-10 (P < 0.001) compared to controls. The patients with congenital heart defects (n = 31) had significantly (P = 0.018) raised serum levels of IP-10 compared to patients born without heart defects (n = 24). The other cytokines investigated were either not detectable or did not differ between patients and controls. PMID:26708691

  4. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

    PubMed Central

    Chakraborty, D; Bernal, A J; Schoch, K; Howard, T D; Ip, E H; Hooper, S R; Keshavan, M S; Jirtle, R L; Shashi, V

    2012-01-01

    Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. It is typified by highly variable symptoms, which might be explained by epigenetic regulation of genes in the interval. Using computational algorithms, our laboratory previously predicted that DiGeorge critical region 6 (DGCR6), which lies within the deletion interval, is imprinted in humans. Expression and epigenetic regulation of this gene have not, however, been examined in 22q11DS subjects. The purpose of this study was to determine if the expression levels of DGCR6 and its duplicate copy DGCR6L in 22q11DS subjects are associated with the parent-of-origin of the deletion and childhood psychopathologies. Our investigation showed no evidence of parent-of-origin-related differences in expression of both DGCR6 and DGCR6L. However, we found that the variability in DGCR6 expression was significantly greater in 22q11DS children than in age and gender-matched control individuals. Children with 22q11DS who had anxiety disorders had significantly lower DGCR6 expression, especially in subjects with the deletion on the maternal chromosome, despite the lack of imprinting. Our findings indicate that epigenetic mechanisms other than imprinting contribute to the dysregulation of these genes and the associated childhood psychopathologies observed in individuals with 22q11DS. Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects. PMID:22832905

  5. How to diagnose a lipodystrophy syndrome.

    PubMed

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

    2012-06-01

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

  6. Partial Facetectomy for Lumbar Foraminal Stenosis

    PubMed Central

    Kang, Kevin; Rodriguez-Olaverri, Juan Carlos; Razi, Afshin; Farcy, Jean Pierre

    2014-01-01

    Background. Several different techniques exist to address the pain and disability caused by isolated nerve root impingement. Failure to adequately decompress the lumbar foramen may lead to failed back surgery syndrome. However, aggressive treatment often causes spinal instability or may require fusion for satisfactory results. We describe a novel technique for decompression of the lumbar nerve root and demonstrate its effectiveness in relief of radicular symptoms. Methods. Partial facetectomy was performed by removal of the medial portion of the superior facet in patients with lumbar foraminal stenosis. 47 patients underwent the procedure from 2001 to 2010. Those who demonstrated neurogenic claudication without spinal instability or central canal stenosis and failed conservative management were eligible for the procedure. Functional level was recorded for each patient. These patients were followed for an average of 3.9 years to evaluate outcomes. Results. 27 of 47 patients (57%) reported no back pain and no functional limitations. Eight of 47 patients (17%) reported moderate pain, but had no limitations. Six of 47 patients (13%) continued to experience degenerative symptoms. Five of 47 patients (11%) required additional surgery. Conclusions. Partial facetectomy is an effective means to decompress the lumbar nerve root foramen without causing spinal instability. PMID:25110591

  7. Attribution of Negative Intention in Williams Syndrome

    ERIC Educational Resources Information Center

    Godbee, Kali; Porter, Melanie A.

    2013-01-01

    People with Williams syndrome (WS) are said to have sociable and extremely trusting personalities, approaching strangers without hesitation. This study investigated whether people with WS are less likely than controls to attribute negative intent to others when interpreting a series of ambiguous pictures. This may, at least partially, explain…

  8. Lemierre's syndrome.

    PubMed

    Eilbert, Wesley; Singla, Nitin

    2013-01-01

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

  9. Compartment syndromes

    NASA Technical Reports Server (NTRS)

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

    1989-01-01

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

  10. [Kallmann syndrome].

    PubMed

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

    2011-10-01

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

  11. SAPHO syndrome.

    PubMed

    Cotten, A; Flipo, R M; Mentre, A; Delaporte, E; Duquesnoy, B; Chastanet, P

    1995-09-01

    Palmoplantar pustulosis and severe acne are sometimes associated with peculiar aseptic skeletal conditions, but such skeletal lesions can be found without skin lesions. The term SAPHO syndrome has been coined for this cluster of manifestations. (The acronym SAPHO refers to synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis.) The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. Osteosclerosis of the vertebral bodies, hyperostosis, and erosions of the vertebral plates can be encountered. Unilateral sacroiliitis is frequently observed. Long bone involvement consists of osteosclerosis or osteolysis with periosteal new bone formation. Peripheral arthritis can be present but is rarely associated with joint destruction. The pathogenesis of this syndrome remains unknown, but a link with seronegative spondyloarthropathies is probable. Radiologists should be aware of this unusual syndrome to avoid misdiagnosis (eg, tumor, infection), unnecessary surgery, and antibiotic therapy. PMID:7501856

  12. Flammer syndrome

    PubMed Central

    2014-01-01

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

  13. Partial lipodystrophy in coeliac disease.

    PubMed Central

    O'Mahony, D; O'Mahony, S; Whelton, M J; McKiernan, J

    1990-01-01

    The association of coeliac disease and partial lipodystrophy is described. The patient also had deficiencies of serum IgA and C3 complement (the latter associated with partial lipodystrophy). In addition, there was subclinical dermatitis herpetiformis confirmed by skin biopsy. The facial wasting of fully developed partial lipodystrophy may be misinterpreted as a sign of malabsorption but the facial, upper limb, and truncal lipodystrophy contrasts with normal pelvic and lower limb appearances. Images Figure 1 Figure 2 PMID:2379878

  14. [Eisenmenger syndrome].

    PubMed

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G; Hansen, Peter Bo; Søndergaard, Lars

    2009-04-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. PMID:19416617

  15. Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

    PubMed Central

    Anastasio, Natascia; Ben-Omran, Tawfeg; Teebi, Ahmad; Ha, Kevin C.H.; Lalonde, Emilie; Ali, Rehab; Almureikhi, Mariam; Der Kaloustian, Vazken M.; Liu, Junhui; Rosenblatt, David S.; Majewski, Jacek; Jerome-Majewska, Loydie A.

    2010-01-01

    Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip. Other features are arachnodactyly, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence. We present molecular data on four VDEGS patients from three consanguineous Qatari families belonging to the same highly inbred Bedouin tribe. The patients were genotyped with SNP microarrays, and a 2.4 Mb homozygous region was found on chromosome 22q11 in an area overlapping the DiGeorge critical region. This region contained 44 genes, including SCARF2, a gene that is expressed during development in a number of mouse tissues relevant to the symptoms described above. Sanger sequencing identified a missense change, c.773G>A (p.C258Y), in exon 4 in the two closely related patients and a 2 bp deletion in exon 8, c.1328_1329delTG (p.V443DfsX83), in two unrelated individuals. In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS. SCARF2 contains putative epidermal growth factor-like domains in its extracellular domain, along with a number of positively charged residues in its intracellular domain, indicating that it may be involved in intracellular signaling. However, the function of SCARF2 has not been characterized, and this study reports that phenotypic effects can be associated with defects in the scavenger receptor F family of genes. PMID:20887961

  16. Trigonometric Integrals via Partial Fractions

    ERIC Educational Resources Information Center

    Chen, H.; Fulford, M.

    2005-01-01

    Parametric differentiation is used to derive the partial fractions decompositions of certain rational functions. Those decompositions enable us to integrate some new combinations of trigonometric functions.

  17. Low partial discharge vacuum feedthrough

    NASA Technical Reports Server (NTRS)

    Benham, J. W.; Peck, S. R.

    1979-01-01

    Relatively discharge free vacuum feedthrough uses silver-plated copper conductor jacketed by carbon filled silicon semiconductor to reduce concentrated electric fields and minimize occurrence of partial discharge.

  18. Waardenburg syndrome

    MedlinePlus

    ... heterochromia ) Pale color skin, hair, and eyes (partial albinism) Difficulty completely straightening joints Possible slight decrease in ... ncbi.nlm.nih.gov/pubmed/20301703 . Read More Albinism Autosomal dominant Hearing loss Update Date 8/1/ ...

  19. Experts' understanding of partial derivatives using the partial derivative machine

    NASA Astrophysics Data System (ADS)

    Roundy, David; Weber, Eric; Dray, Tevian; Bajracharya, Rabindra R.; Dorko, Allison; Smith, Emily M.; Manogue, Corinne A.

    2015-12-01

    [This paper is part of the Focused Collection on Upper Division Physics Courses.] Partial derivatives are used in a variety of different ways within physics. Thermodynamics, in particular, uses partial derivatives in ways that students often find especially confusing. We are at the beginning of a study of the teaching of partial derivatives, with a goal of better aligning the teaching of multivariable calculus with the needs of students in STEM disciplines. In this paper, we report on an initial study of expert understanding of partial derivatives across three disciplines: physics, engineering, and mathematics. We report on the central research question of how disciplinary experts understand partial derivatives, and how their concept images of partial derivatives differ, with a focus on experimentally measured quantities. Using the partial derivative machine (PDM), we probed expert understanding of partial derivatives in an experimental context without a known functional form. In particular, we investigated which representations were cued by the experts' interactions with the PDM. Whereas the physicists and engineers were quick to use measurements to find a numeric approximation for a derivative, the mathematicians repeatedly returned to speculation as to the functional form; although they were comfortable drawing qualitative conclusions about the system from measurements, they were reluctant to approximate the derivative through measurement. On a theoretical front, we found ways in which existing frameworks for the concept of derivative could be expanded to include numerical approximation.

  20. Anterior horn syndrome: A rare manifestation of primary Sjögren's syndrome.

    PubMed

    Zahlane, Safaa; Louhab, Nissrine; El Mellakh, Meriem; Kissani, Najib

    2016-07-01

    The authors report an exceptional case of an anterior horn syndrome associated with Sjögren's syndrome in a 58-year-old patient with a flaccid tetraparesis revealed by asymmetric atrophy and diffuse fasciculations associated with xerostomia and xerophthalmia. The electroneuromyography objectified a diffuse anterior horn syndrome. The brain MRI and spinal cord were normal. Laboratory tests revealed positive anti-SSA and anti-SSB antibody. The salivary glands biopsy objectified lymphocytic sialadenitis grade 3 of Chisholm. The Schirmer's test was abnormally low. Diagnosis of anterior horn syndrome as part of Sjögren's syndrome was retained. The methylprednisolone bolus allowed partial clinical improvement after 12 months of evolution. Therefore, in patients with isolated anterior horn involvement, a correct diagnosis of the underlying SS is often delayed or overlooked entirely; in these instances, standard clinicoserological assessment is recommendable. PMID:27118221

  1. The trisomy 18 syndrome

    PubMed Central

    2012-01-01

    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

  2. Anatomy of turner syndrome.

    PubMed

    Granger, Andre; Zurada, Anna; Zurada-Zielińska, Agnieszka; Gielecki, Jerzy; Loukas, Marios

    2016-07-01

    Turner syndrome (TS) is one of the most common sex chromosome abnormalities and results from total or partial monosomy of the X chromosome. It occurs in 1 in 2000 newborn girls and is also believed to be present in a larger proportion of conceptuses. There are various anatomic anomalies that have been associated with TS and the consequences of late recognition of these anomalies can be devastating. Aortic dilation and dissection occur at increased rates in TS patients and contribute to the decreased life expectancy of these patients. Such cases have prompted the need for early identification and continuous monitoring. Other anatomic variations increase morbidity in this population, and negatively impact the social and reproductive aspects of their lives. In this review, we summarize the cardiovascular, neurological, genitourinary, otolaryngolical, craniofacial, and skeletal defects associated with TS. To elucidate these morphological variations, novel illustrations have also been constructed. Clin. Anat. 29:638-642, 2016. © 2016 Wiley Periodicals, Inc. PMID:27087450

  3. Restless legs syndrome.

    PubMed

    Klingelhoefer, Lisa; Bhattacharya, Kalyan; Reichmann, Heinz

    2016-08-01

    Restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED), is a common movement disorder characterised by an uncontrollable urge to move because of uncomfortable, sometimes painful sensations in the legs with a diurnal variation and a release with movement. The pathophysiology is only partially known and a genetic component together with dopaminergic and brain iron dysregulation plays an important role. Secondary causes for RLS need to be excluded. Treatment depends on the severity and frequency of RLS symptoms, comprises non-pharmacological (eg lifestyle changes) and pharmacological interventions (eg dopaminergic medication, alpha-2-delta calcium channel ligands, opioids) and relieves symptoms only. Augmentation is the main complication of long-term dopaminergic treatment of RLS. This article will provide a clinically useful overview of RLS with provision of diagnostic criteria, differential diagnoses, possible investigations and different treatment strategies with their associated complications. PMID:27481386

  4. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

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

  5. Metabolic Syndrome

    MedlinePlus

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  6. Reye's Syndrome

    MedlinePlus

    ... diagnosis and medical treatment of RS. NIH Patient Recruitment for Reye's Syndrome Clinical Trials At NIH Clinical ... Drug Administration (FDA) U.S. Department of Health and Human Services 5600 Fishers Lane, CDER-HFD-240 Rockville, MD ... Privacy Statement NIH...Turning Discovery Into Health ®

  7. Metabolic Syndrome

    MedlinePlus

    ... from Nemours for Parents for Kids for Teens Teens Home Body Mind Sexual Health Food & Fitness Diseases & Conditions Infections Q&A School & Jobs Drugs & Alcohol Staying Safe Recipes En Español Making a Change – Your Personal Plan Hot ... > Metabolic Syndrome Print A A A Text Size ...

  8. Dubowitz syndrome.

    PubMed

    Wilhelm, O L; Méhes, K

    1986-01-01

    Four children including two siblings with Dubowitz syndrome are presented. All four were preterm or small-for-dates. On the basis of their symptoms, it is suggested that infantile eczema is not an essential sign of the disorder, whereas the high frequency of hernia, strabism and upward slant of the palpebral fissures is underestimated in the literature. PMID:3730185

  9. Tourette Syndrome

    MedlinePlus

    ... is also possible that many genes with smaller effects and environmental factors may play a role in the development ... Publication No. 12-2163 Back to Tourette Syndrome Information Page See a list ... by: Office of Communications and Public Liaison National Institute of Neurological Disorders ...

  10. HELLP syndrome

    MedlinePlus

    ... get worse and be harmful to both the mother and child. Your health care provider may induce labor by ... treatment, a small number of women die. The death rate among babies born to mothers with HELLP syndrome depends on birth weight and ...

  11. Rett Syndrome

    MedlinePlus

    ... binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical ... the following criteria do not have Rett syndrome: brain injury secondary to ... abnormal psychomotor development in the first 6 months of life. Is ...

  12. Tourette Syndrome

    MedlinePlus

    ... organizations can help kids learn how to explain tics to others. How Should I Act Around Someone Who Has It? Kids who have Tourette syndrome want to be treated like everybody else. They can do regular stuff, just like other kids. In fact, Tim Howard grew up to be a soccer star. ...

  13. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  14. [SAPHO syndrome].

    PubMed

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

    2014-10-01

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

  15. Morquio syndrome

    MedlinePlus

    ... Hearing test Slit-lamp eye exam Skin fibroblast culture X-rays of the long bones, ribs, and spine People with Morquio syndrome should have MRI of the lower skull and upper neck to determine if their upper vertebrae are underdeveloped.

  16. Are Electron Partial Waves Real

    NASA Astrophysics Data System (ADS)

    Yenen, O.; McLaughlin, K. W.

    2005-05-01

    Experiments determining the partial wave content of electrons are uncommon. The standard approach to partial wave expansion of the wavefunction of electrons often ignores their spin. In this non-relativistic approximation the partial waves are labeled by their orbital angular momentum quantum number, e.g. d-waves. As our previous work has shown, this non-relativistic approximation usually fails for photoelectrons. Partial waves should be further specified by their total angular momentum. With d-waves for example, one would need to distinguish between d3/2 and d5/2 partial waves. Although energetically degenerate, fully relativistic d3/2 and d5/2 partial waves of photoelectrons have fundamentally different angular distributions. Using experimental and theoretical methods we have developed, we obtain partial wave probabilities of photoelectrons from polarization measurements of ionic fluorescence. We found that for selected states of the residual ion, there are energy regions where the photoelectron is in a single partial wave with predictable angular distributions.

  17. [Vascular vertigo syndromes].

    PubMed

    Dieterich, M

    2002-12-01

    Ischemia,hemorrhages, and other vascular disorders can result in various central or peripheral vestibular syndromes with vertigo, oculomotor/balance disturbances, and nausea. The vascular vertigo syndromes listed in Table 1 can however be brought about by other causes such as demyelitizing focuses in multiple sclerosis or space-occupying lesions, so that not only localization of the damaged structure but also the various etiologies are decisive for the choice of therapy. Occasionally, combined functional disturbances of the peripheral and central vestibular system appear, such as an infarction of the inferior anterior cerebellar artery, which supplies the labyrinth and parts of the brainstem and cerebellum. In rare cases, a central lesion can have the same signs as a peripheral-vertibular disturbance: a lacunar infarct at the root entry zone of the eighth nerve can mimic a unilateral partial loss of labyrinth function as it occurs in vestibular neuritis, thus named "pseudoneuritis". Differential diagnosis between vestibular migraine, vestibular paroxysmia, transient ischemic brainstem attacks, and Meniere's disease is sometimes so difficult that only trial therapies such as prophylaxis with beta blockers, carbamazepine, thrombocyte aggregation inhibitors, antiplatelet drugs, or betahistin can clarify the issue. PMID:12486562

  18. Bing and neel syndrome.

    PubMed

    Jennane, S; Doghmi, K; Mahtat, E M; Messaoudi, N; Varet, B; Mikdame, M

    2012-01-01

    Introduction. We report the case of a Bing and Neel syndrome revealed by an isolated left ptosis. Case Report. a 57-year-old man was followed up since October 2003 for a typical Waldenström's macroglobulinemia. A first complete remission was obtained with chlorambucil. In August 2004, he relapsed. A second complete remission was obtained with RFC chemotherapy regimen (rituximab, fludarabine, and cyclophosphamide). In October 2009, the patient presented with an isolated left ptosis revealing a Bing and Neel syndrome. The diagnosis was suspected on MRI and confirmed by the detection in the CSF of a monoclonal IgM similar to the one found in the plasma. A quite good partial remission has been obtained after one course of RDHAP (rituximab, dexamethasone, cytarabine, and cisplatin) and 3 courses of RDHOx (rituximab, dexamethasone, cytarabine, and oxaliplatin), in addition to ten intrahectal chemotherapy injections. The treatment was followed by intensification and autologous stem cell transplantation. At D58, the patient died due to a septic shock. Conclusion. BNS is a rare and potentially treatable complication of WM. It should be considered in patients with neurologic symptoms and a history of WM. PMID:22988532

  19. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

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

  20. High Productivity Implantation ''PARTIAL IMPLANT''

    SciTech Connect

    Hino, Masayoshi; Miyamoto, Naoki; Sakai, Shigeki; Matsumoto, Takao

    2008-11-03

    The patterned ion implantation 'PARTIAL IMPLANT' has been developed as a productivity improvement tool. The Partial Implant can form several different ion dose areas on the wafer surface by controlling the speed of wafer moving and the stepwise rotation of twist axis. The Partial Implant system contains two implant methods. One method is 'DIVIDE PARTIAL IMPLANT', that is aimed at reducing the consumption of the wafer. The Divide Partial Implant evenly divides dose area on one wafer surface into two or three different dose part. Any dose can be selected in each area. So the consumption of the wafer for experimental implantation can be reduced. The second method is 'RING PARTIAL IMPLANT' that is aimed at improving yield by correcting electrical characteristic of devices. The Ring Partial Implant can form concentric ion dose areas. The dose of wafer external area can be selected to be within plus or minus 30% of dose of wafer central area. So the electrical characteristic of devices can be corrected by controlling dose at edge side on the wafer.

  1. Computer copings for partial coverage.

    PubMed

    Denissen, H; van der Zel, J; Reisig, J; Vlaar, S; de Ruiter, W; van Waas, R

    1999-04-01

    Partial coverage posterior tooth preparations are very complex surfaces for computer surface digitization, computer design, and manufacture of ceramic copings. The aim of this study was therefore to determine whether the Computer Integrated Crown Reconstruction (Cicero) system was compatible with a proposed partial coverage preparation design and capable of producing ceramic copings. Posterior teeth were prepared for partial coverage copings with deep gingival chamfers in the proximal boxes and around the functional cusps (buccal of mandibular and lingual of maxillary posterior teeth). The nonfunctional cusps (lingual of mandibular and buccal of maxillary posterior teeth) were prepared with broad bevels following the inclined occlusal plane pattern. Optical impressions were taken of stone dies by means of a fast laser-line scanning method that measured the three-dimensional geometry of the partial coverage preparation. Computers digitized the images, and designed and produced the ceramic copings. The Cicero system digitized the partial coverage preparation surfaces precisely with a minor coefficient of variance of 0.2%. The accuracy of the surface digitization, the design, and the computer aided milling showed that the system was capable of producing partial coverage copings with a mean marginal gap of 74 microns. This value was obtained before optimizing the marginal fit by means of porcelain veneering. In summary, Cicero computer technology, i.e., surface digitization, coping design, and manufacture, was compatible with the described partial coverage preparations for posterior teeth. PMID:11351490

  2. Coherent-mode decomposition of partially polarized, partially coherent sources

    NASA Astrophysics Data System (ADS)

    Gori, Franco; Santarsiero, Massimo; Simon, Raja; Piquero, Gemma; Borghi, Riccardo; Guattari, Giorgio

    2003-01-01

    It is shown that any partially polarized, partially coherent source can be expressed in terms of a suitable superposition of transverse coherent modes with orthogonal polarization states. Such modes are determined through the solution of a system of two coupled integral equations. An example, for which the modal decomposition is obtained in closed form in terms of fully linearly polarized Hermite Gaussian modes, is given.

  3. Coherent-mode decomposition of partially polarized, partially coherent sources.

    PubMed

    Gori, Franco; Santarsiero, Massimo; Simon, Raja; Piquero, Gemma; Borghi, Riccardo; Guattari, Giorgio

    2003-01-01

    It is shown that any partially polarized, partially coherent source can be expressed in terms of a suitable superposition of transverse coherent modes with orthogonal polarization states. Such modes are determined through the solution of a system of two coupled integral equations. An example, for which the modal decomposition is obtained in closed form in terms of fully linearly polarized Hermite Gaussian modes, is given. PMID:12542320

  4. Autoimmunity and Turner's syndrome.

    PubMed

    Lleo, Ana; Moroni, Luca; Caliari, Lisa; Invernizzi, Pietro

    2012-05-01

    Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. TS is closely associated to the presence of autoantibodies and autoimmune diseases (AID), especially autoimmune thyroiditis and inflammatory bowel disease. Despite the fact that the strong association between TS and AID is well known and has been widely studied, the underlying immunopathogenic mechanism remains partially unexplained. Recent studies have displayed how TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID, and particularly of X-genes involved in immune response. For instance, the long arm of the X chromosome hosts a MHC-locus, so the loss of that region may lead to a deficiency in immune regulation. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of autoimmune manifestations. Individuals with TS need life-long medical attention. As a consequence of these findings, early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients. PMID:22154619

  5. [SAPHO syndrome].

    PubMed

    Chamot, A M; Kahn, M F

    1994-01-01

    The occurrence of musculoskeletal manifestations (including synovitis, chest wall arthroosteitis and multifocal osteomyelitis) in association with severe acne, palmoplantar pustulosis and perhaps with some presentations of psoriasis, have been described by many authors in the past 30 years. These different multifaceted descriptions have been designated by a variety of terms. More recently, a possible link between these conditions and spondarthritides has also been underlined by a slightly increased prevalence of HLA B27 and occasional occurrences of sacroiliitis, chronic inflammatory bowel disease and possibly psoriasis. An acronym, the SAPHO syndrome (which stands for Synovitis, Acne, Pustulosis Hyperostosis and Osteitis) is proposed for this group of diseases because of the similarity of musculoskeletal manifestations in patients with severe acne and pustulosis. The clinical, epidemiological, pathophysiological, immunogenetic and diagnostic aspects, as well as the management of this syndrome are reviewed. PMID:7975935

  6. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

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

  7. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  8. Brachycephalic Syndrome.

    PubMed

    Dupré, Gilles; Heidenreich, Dorothee

    2016-07-01

    Animals presenting with brachycephalic syndrome suffer from multilevel obstruction of the airways as well as secondary structural collapse. Stenotic nares, aberrant turbinates, nasopharyngeal collapse, soft palate elongation and hyperplasia, laryngeal collapse, and left bronchus collapse are being described as the most common associated anomalies. Rhinoplasty and palatoplasty as well as newer surgical techniques and postoperative care strategies have resulted in significant improvement of the prognosis even in middle-aged dogs. PMID:27012936

  9. Chromothriptic cure of WHIM syndrome.

    PubMed

    McDermott, David H; Gao, Ji-Liang; Liu, Qian; Siwicki, Marie; Martens, Craig; Jacobs, Paejonette; Velez, Daniel; Yim, Erin; Bryke, Christine R; Hsu, Nancy; Dai, Zunyan; Marquesen, Martha M; Stregevsky, Elina; Kwatemaa, Nana; Theobald, Narda; Long Priel, Debra A; Pittaluga, Stefania; Raffeld, Mark A; Calvo, Katherine R; Maric, Irina; Desmond, Ronan; Holmes, Kevin L; Kuhns, Douglas B; Balabanian, Karl; Bachelerie, Françoise; Porcella, Stephen F; Malech, Harry L; Murphy, Philip M

    2015-02-12

    Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR4. In this patient, deletion of the disease allele, CXCR4(R334X), as well as 163 other genes from one copy of chromosome 2 occurred in a hematopoietic stem cell (HSC) that repopulated the myeloid but not the lymphoid lineage. In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure. Our findings suggest that partial inactivation of CXCR4 may have general utility as a strategy to promote HSC engraftment in transplantation. PMID:25662009

  10. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

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

  11. Roberts syndrome

    PubMed Central

    Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L

    2014-01-01

    All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. PMID:25054091

  12. Acrodysostosis syndromes.

    PubMed

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  13. Down Syndrome: Eye Problems

    MedlinePlus

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

  14. Reye syndrome - resources

    MedlinePlus

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

  15. Hyperimmunoglobulin E syndrome

    MedlinePlus

    Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes problems with the skin, sinuses, lungs, bones, and teeth. ... Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was ...

  16. National Down Syndrome Society

    MedlinePlus

    donate Entire Site Down Syndrome Resources Ways to Give #DSWORKS™ Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 8 E ...

  17. Genetic obesity syndromes.

    PubMed

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

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

  18. Fetal Alcohol Syndrome

    MedlinePlus

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

  19. Tethered Spinal Cord Syndrome

    MedlinePlus

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

  20. Heart and Down Syndrome

    MedlinePlus

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

  1. What is Down Syndrome?

    MedlinePlus

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

  2. Do you know this syndrome? Noonan syndrome.

    PubMed

    Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

  3. Inherited ichthyosis: Syndromic forms.

    PubMed

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis. PMID:26945533

  4. Acute nephritic syndrome

    MedlinePlus

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes ...

  5. [Disseminated BCG disease revealing a partial deficiency in receptor 1 interferon gamma].

    PubMed

    Antonietti, J; Retornaz, K; Bernasconi, A; Laporte, R-J; Minodier, P; Bustamante, J-C; Dubus, J-C

    2015-09-01

    We report on a case of disseminated BCGitis with an unusual presentation in a 4-month-old infant revealing a syndrome of Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene. PMID:26251056

  6. The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome

    PubMed Central

    Muldoon, Meghan; Ousley, Opal Y.; Kobrynski, Lisa J.; Patel, Sheena; Oster, Matthew E.; Fernandez-Carriba, Samuel; Cubells, Joseph F.; Coleman, Karlene; Pearce, Bradley D.

    2014-01-01

    22q11 deletion syndrome (22qDS), also known as DiGeorge Syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p<0.05), Speech (p<0.01), and Symbolic domains (p<0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes. PMID:25267002

  7. Laparoscopic total and partial nephrectomy.

    PubMed

    Lee, Benjamin R

    2002-01-01

    Laparoscopic radical nephrectomy has established its role as a standard of care for the management of renal neoplasms. Long term follow-up has demonstrated laparoscopic radical nephrectomy has shorter patient hospitalization and effective cancer control, with no significant difference in survival compared with open radical nephrectomy. For renal masses less than 4cm, partial nephrectomy is indicated for patients with a solitary kidney or who demonstrate impairment of contralateral renal function. The major technical issue for success of laparoscopic partial nephrectomy is bleeding control and several techniques have been developed to achieve better hemostatic control. Development of new laparoscopic techniques for partial nephrectomy can be divided into 2 categories: hilar control and warm ischemia vs. no hilar control. Development of a laparoscopic Satinsky clamp has achieved en bloc control of the renal hilum in order to allow cold knife excision of the mass, with laparoscopic repair of the collecting system, if needed. Combination of laparoscopic partial nephrectomy with ablative techniques has achieved successful excision of renal masses with adequate hemostasis without hilar clamping. Other techniques without hilar control have been investigated and included the use of a microwave tissue coagulator. In conclusion, laparoscopic radical nephrectomy for renal cell carcinoma has clearly demonstrated low morbidity and equivalent cancer control. The rates for local recurrences and metastatic spread are low and actuarial survival high. Furthermore, laparoscopic partial nephrectomy has demonstrated to be technically feasible, with low morbidity. With short term outcomes demonstrating laparoscopic partial nephrectomy as an efficacious procedure, the role of laparoscopic partial nephrectomy should continue to increase. PMID:15748397

  8. Management of partial anomalous pulmonary venous connection in single ventricle.

    PubMed

    Sugiura, Junya; Sakurai, Hajime; Nonaka, Toshimichi; Sakurai, Takahisa; Taneichi, Tetsuyoshi; Otsuka, Ryohei

    2016-07-01

    We herein report a case of a hypoplastic left heart syndrome variant complicated with partial anomalous pulmonary venous connection to the left innominate vein. We left the vertical vein at the time of the bidirectional Glenn procedure, and ligated the vertical vein at the time of the total cavopulmonary connection procedure, without reconnecting the vertical vein to the left atrium. Because of the development of an interlobar vein draining from the left upper lung into the lower lung after the bidirectional Glenn procedure, the circulation of the left upper lung was preserved after the total cavopulmonary connection procedure. PMID:26038604

  9. Morvan Syndrome

    PubMed Central

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

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  10. Complete characterization of partially coherent and partially polarized optical fields.

    PubMed

    Basso, Gabriel; Oliveira, Luimar; Vidal, Itamar

    2014-03-01

    We suggest a method to access the second-order, or two-point, Stokes parameters of a partially coherent and partially polarized Gaussian model optical field from an intensity interferometry experiment. Through a remarkably simple experimental arrangement, it is possible to measure the two-point and one-point Stokes parameters simultaneously, allowing the reconstruction of the coherence matrix and the polarization matrix, thus completely characterizing the optical field both statistically and locally on the observation plane. Developments, automation, and applications are pointed out. PMID:24690711

  11. Mazabraud syndrome

    PubMed Central

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

    2013-01-01

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

  12. [Ascher's syndrome].

    PubMed

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  13. [Piriformis syndrome].

    PubMed

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  14. Griscelli syndrome.

    PubMed

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

    2014-08-01

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

  15. Ortner's syndrome

    PubMed Central

    Shahul, Hameed Aboobackar; Manu, Mohan K; Mohapatra, Aswini Kumar; Magazine, Rahul

    2014-01-01

    A 42-year-old man with a significant smoking history presented with chronic expectorative cough and exertional shortness of breath with recent-onset hoarseness. Chest examination was essentially normal and cardiovascular examination was suggestive of aortic regurgitation. Ears, nose and throat evaluation showed left vocal cord palsy and CT scan revealed an aortic arch aneurysm. Ortner's syndrome refers to hoarseness due to recurrent laryngeal nerve palsy secondary to a cardiovascular abnormality. Aortic aneurysms usually present with chest pain, back pain or epigastric pain, depending on the site of the aneurysm. An aortic arch aneurysm presenting as hoarseness is extremely rare. PMID:24618861

  16. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

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

  17. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  18. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature

    PubMed Central

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-01-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%–3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation. PMID:27366529

  19. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

    PubMed

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-10-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation. PMID:27366529

  20. Myasthenic syndromes.

    PubMed

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  1. Klinefelter syndrome.

    PubMed

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition. PMID:9645824

  2. Landsliding in partially saturated materials

    USGS Publications Warehouse

    Godt, J.W.; Baum, R.L.; Lu, N.

    2009-01-01

    [1] Rainfall-induced landslides are pervasive in hillslope environments around the world and among the most costly and deadly natural hazards. However, capturing their occurrence with scientific instrumentation in a natural setting is extremely rare. The prevailing thinking on landslide initiation, particularly for those landslides that occur under intense precipitation, is that the failure surface is saturated and has positive pore-water pressures acting on it. Most analytic methods used for landslide hazard assessment are based on the above perception and assume that the failure surface is located beneath a water table. By monitoring the pore water and soil suction response to rainfall, we observed shallow landslide occurrence under partially saturated conditions for the first time in a natural setting. We show that the partially saturated shallow landslide at this site is predictable using measured soil suction and water content and a novel unified effective stress concept for partially saturated earth materials. Copyright 2009 by the American Geophysical Union.

  3. Partial integration raises antitrust concerns.

    PubMed

    Brock, T H; Kamoie, B E

    2000-11-01

    Recently, providers have begun to explore a new model of integrated delivery system, the partially integrated IDS. Typically, a partially integrated IDS is a joint venture, owned by a core group of providers that maintains complete financial and operational independence outside the joint venture. The IDS contracts with other providers to furnish services that the part-owners do not furnish. A partially integrated IDS raises antitrust concerns because the participating providers may be seen as competitors banding together to set prices jointly for healthcare services. Therefore, to minimize their antitrust exposure, providers that are considering this model should be careful to structure the IDS in accordance with the relevant Federal antitrust laws (i.e., Section 1 of the Sherman Act), taking into account the Federal antitrust agencies' various guidelines and enforcement policies. PMID:11688054

  4. Partial Priapism Treated with Pentoxifylline

    PubMed Central

    Cooper, Meghan A.; Carrion, Rafael E.; Yang, Christopher

    2015-01-01

    ABSTRACT Main findings: A 26-year-old man suffering from partial priapism was successfully treated with a regimen including pentoxifylline, a nonspecific phosphodiesterase inhibitor that is often used to conservatively treat Peyronie's disease. Case hypothesis: Partial priapism is an extremely rare urological condition that is characterized by thrombosis within the proximal segment of a single corpus cavernosum. There have only been 36 reported cases to date. Although several factors have been associated with this unusual disorder, such as trauma or bicycle riding, the etiology is still not completely understood. Treatment is usually conservative and consists of a non-steroidal anti-inflammatory and anti-thrombotic. Promising future implications: This case report supports the utilization of pentoxifylline in patients with partial priapism due to its anti-fibrogenic and anti-thrombotic properties. PMID:26401875

  5. Fragile X syndrome

    MedlinePlus

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

  6. Cochlear implantation in a patient with Perisylvian syndrome.

    PubMed

    Smith, Wendy; Axon, Patrick

    2007-06-01

    Perisylvian syndrome is a rare neurological disorder characterised by the partial paralysis of muscles, epilepsy and mild to severe mental retardation. It is associated with hearing loss and delay in language and speech development. This presents additional challenges in the assessment of whether a child is suitable for cochlea implantation. The method to determine whether the hearing loss is of cochlear or central origin and the progress of a child with Perisylvian syndrome who received a cochlear implant is discussed. PMID:17549806

  7. Acute Respiratory Distress Syndrome in Lemierre's Syndrome

    PubMed Central

    Hein, Paul N.; Soghikian, Maida V.; Bhangoo, Munveer S.

    2014-01-01

    Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

  8. Acute Respiratory Distress Syndrome in Lemierre's Syndrome.

    PubMed

    Hein, Paul N; Soghikian, Maida V; Bhangoo, Munveer S

    2014-01-01

    Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

  9. Full and partial gauge fixing

    SciTech Connect

    Shirzad, A.

    2007-08-15

    Gauge fixing may be done in different ways. We show that using the chain structure to describe a constrained system enables us to use either a full gauge, in which all gauged degrees of freedom are determined, or a partial gauge, in which some first class constraints remain as subsidiary conditions to be imposed on the solutions of the equations of motion. We also show that the number of constants of motion depends on the level in a constraint chain in which the gauge fixing condition is imposed. The relativistic point particle, electromagnetism, and the Polyakov string are discussed as examples and full or partial gauges are distinguished.

  10. Partial pressure analysis of plasmas

    SciTech Connect

    Dylla, H.F.

    1984-11-01

    The application of partial pressure analysis for plasma diagnostic measurements is reviewed. A comparison is made between the techniques of plasma flux analysis and partial pressure analysis for mass spectrometry of plasmas. Emphasis is given to the application of quadrupole mass spectrometers (QMS). The interface problems associated with the coupling of a QMS to a plasma device are discussed including: differential-pumping requirements, electromagnetic interferences from the plasma environment, the detection of surface-active species, ion source interactions, and calibration procedures. Example measurements are presented from process monitoring of glow discharge plasmas which are useful for cleaning and conditioning vacuum vessels.

  11. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Gammon, Amanda; Jasperson, Kory; Kohlmann, Wendy

    2009-01-01

    Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis is necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and juvenile polyposis will be presented in this review. PMID:19414148

  12. Apparatus for generating partially coherent radiation

    DOEpatents

    Naulleau, Patrick P.

    2005-02-22

    Techniques for generating partially coherent radiation and particularly for converting effectively coherent radiation from a synchrotron to partially coherent EUV radiation suitable for projection lithography.

  13. Frontotemporal brain sagging syndrome

    PubMed Central

    Wicklund, M.R.; Mokri, B.; Drubach, D.A.; Boeve, B.F.; Parisi, J.E.

    2011-01-01

    Background: Behavioral variant frontotemporal dementia (bvFTD) is a relatively well-defined clinical syndrome. It is associated with frontal and temporal lobe structural/metabolic changes and pathologic findings of a neurodegenerative disease. We have been evaluating patients with clinical and imaging features partially consistent with bvFTD but with evidence also suggestive of brain sagging, which we refer to as frontotemporal brain sagging syndrome (FBSS). Methods: Retrospective medical chart review to identify all patients seen at our institution between 1996 and 2010, who had a clinical diagnosis of FTD and imaging evidence of brain sag. Results: Eight patients, 7 male and 1 female, were diagnosed with FBSS. The median age at symptom onset was 53 years. All patients had insidious onset and slow progression of behavioral and cognitive dysfunction accompanied by daytime somnolence and headache. Of the 5 patients with functional imaging, all showed evidence of hypometabolism of the frontotemporal regions. On brain MRI, all patients had evidence of brain sagging with distortion of the brainstem; 3 patients had diffuse pachymeningeal enhancement. CSF opening pressure was varied and CSF protein was mildly elevated. A definite site of CSF leak was not identified by myelogram or cisternography, except in one patient with a site highly suggestive of leak who subsequently underwent surgery confirming a CSF leak. In 2 patients with a neuropathologic examination, there was no evidence of a neurodegenerative disease. Conclusions: This case series demonstrates that FBSS may mimic typical bvFTD but should be recognized as an unusual presentation that is potentially treatable. PMID:21502595

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

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

  15. Leadership in Partially Distributed Teams

    ERIC Educational Resources Information Center

    Plotnick, Linda

    2009-01-01

    Inter-organizational collaboration is becoming more common. When organizations collaborate they often do so in partially distributed teams (PDTs). A PDT is a hybrid team that has at least one collocated subteam and at least two subteams that are geographically distributed and communicate primarily through electronic media. While PDTs share many…

  16. Partially molten magma ocean model

    SciTech Connect

    Shirley, D.N.

    1983-02-15

    The properties of the lunar crust and upper mantle can be explained if the outer 300-400 km of the moon was initially only partially molten rather than fully molten. The top of the partially molten region contained about 20% melt and decreased to 0% at 300-400 km depth. Nuclei of anorthositic crust formed over localized bodies of magma segregated from the partial melt, then grew peripherally until they coverd the moon. Throughout most of its growth period the anorthosite crust floated on a layer of magma a few km thick. The thickness of this layer is regulated by the opposing forces of loss of material by fractional crystallization and addition of magma from the partial melt below. Concentrations of Sr, Eu, and Sm in pristine ferroan anorthosites are found to be consistent with this model, as are trends for the ferroan anorthosites and Mg-rich suites on a diagram of An in plagioclase vs. mg in mafics. Clustering of Eu, Sr, and mg values found among pristine ferroan anorthosites are predicted by this model.

  17. Nodding Syndrome

    PubMed Central

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

    2013-01-01

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

  18. Antiphospholipid syndrome.

    PubMed

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  19. Nodding syndrome.

    PubMed

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

    2013-01-01

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

  20. [Hepatopulmonary syndrome].

    PubMed

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  1. Antiphospholipid syndrome.

    PubMed

    Khamashta, M; Taraborelli, M; Sciascia, S; Tincani, A

    2016-02-01

    Antiphospholipid syndrome (APS) is an autoimmune condition characterized by the occurrence of thrombosis (arterial and/or venous), often multiple, and/or pregnancy morbidity. Thrombosis is one of the major disease mechanisms, mainly caused by activating endothelial cells, monocytes, and platelets. At present, the management of APS patients with a history of thrombosis is based on long-term antithrombotic therapy, due to the high rate of recurrent thrombosis (29% per year without treatment). Obstetrical APS includes heterogeneous pregnancy complications whose pathogenesis has been increasingly elucidated in the past years. This is due to the current management and treatment, as 80% of APS patients achieve a live birth. The standard approach of APS is not supported by extensive evidence and the best options for refractory and incomplete cases need to be clarified. New and promising molecules are under investigation. PMID:27421221

  2. Rett Syndrome

    PubMed Central

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

    2012-01-01

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

  3. Homozygosity mapping in Andermann syndrome

    SciTech Connect

    Melanson, M.; Casaubon, L; Lopes-Cendes, I.

    1994-09-01

    Objective: To identify the gene causing Andermann syndrome using homozygosity mapping in a large founder population. Background: Andermann syndrome is a rare autosomal recessive disease found almost exclusively in the Charlevoix-Saguenay region of Quebec. Patients have dysmorphic facies, moderate mental retardation and progressive motor neuropathy. Total or partial agenesis of the corpus callosum is found in over 66% of patients. The majority of the affected individuals can be traced to a common ancestral couple living in Quebec in 1957. Homozygosity mapping is a technique which takes advantage of this founder effect by assuming that a single ancestral mutation is responsible for the disease. It is expected that all affected individuals should be homozygous for a common polymorphic marker which is closely linked to the disease gene. Method: Nine nuclear families were studied using DNA from healthy parents and 2 to 4 affected children. Linkage was sought by PCR using microsatellite markers 20 cM throughout the genome. Results: To date, 100 markers representing 50% of the genome have been excluded for linkage to Andermann syndrome using homozygosity mapping. As our study progresses, we will report up-to-date results. Conclusion: Homozygosity mapping is an efficient strategy that allows rapid analysis of a minimal number of individuals for the purposes of screening the entire genome in rare recessive disorders.

  4. Proteus syndrome.

    PubMed

    Dragieva, G; Stahel, H U; Meyer, M; Kempf, W; Häffner, A; Burg, G; Hafner, J

    2003-08-01

    A 34-year-old male patient was referred with a recalcitrant leg ulcer overlying an extensive vascular malformation, which had led several times to septic soft tissue infections. During his infancy he had been diagnosed to have Klippel-Trenaunay syndrome. Clinical examination revealed asymmetric hypertrophy of the lower extremities, an extensive portwine stain on the more severely affected left limb as well as prominent venous varicosities of both legs. Hands and feet showed striking cerebriform palmoplantar hypertrophy, and macrodactily with syndactily of several fingers. All toes had been amputated in early childhood due to extreme overgrowth and currently the patient walked on his forefeet in a prominent pes equinus deformity. Further symptoms consisted in several lipomas at both arms, another portwine stain at the left hemithorax and a single café-au-lait spot at the left scapula. Angio-magnetic resonance imaging scans of both legs showed an extensive venous-lymphatic vascular malformation involving the whole subcutis and infiltrating the muscle. The chronic wound was interpreted as venous stasis ulceration. Local percutaneous sclerotherapy of the dilated veins underneath the ulcer was discussed, but considered to carry a relevant risk of skin necrosis with consecutive progression of the wound. A conventional split-skin graft led to complete wound healing. Since, the patient consequently wears custom-made compression stockings and remained free from recurrences. The syndromatic constellation of palmoplantar overgrowth, multiple lipomas, giant fingers and toes, limb overgrowth, venous-lymphatic malformation and a café-au-lait spot led to the diagnosis of Proteus syndrome. The possible aetiology, clinical manifestations, differential diagnosis and management of this rare disorder are discussed. PMID:14524037

  5. The partial-birth stratagem.

    PubMed

    1998-06-01

    In Wisconsin, physicians stopped performing abortions when a Federal District Court Judge refused to issue a temporary restraining order against the state's newly enacted "partial birth" abortion ban that was couched in such vague language it actually covered all abortions. While ostensibly attempting to ban late-term "intact dilation and extraction," the language of the law did not refer to that procedure or to late terms. Instead, it prohibited all abortions in which a physician "partially vaginally delivers a living child, causes the death of the partially delivered child with the intent to kill the child and then completes the delivery of the child." The law also defined "child" as "a human being from the time of fertilization" until birth. It is clear that this abortion ban is unconstitutional under Row v. Wade, and this unconstitutionality is compounded by the fact that the law allowed no exception to protect a woman's health, which is required by Roe for abortion bans after fetal viability. Wisconsin is only one of about 28 states that have enacted similar laws, and only two have restricted the ban to postviability abortions. Many of these laws have been struck down in court, and President Clinton has continued to veto the Federal partial-birth bill. The Wisconsin Judge acknowledged that opponents of the ban will likely prevail when the case is heard, but his action in denying the temporary injunction means that many women in Wisconsin will not receive timely medical care. The partial birth strategy is really only another anti-abortion strategy. PMID:12348556

  6. Central pain: "new" syndromes and their evaluation.

    PubMed

    Berić, A

    1993-10-01

    Central pain syndrome is defined as pain associated with a lesion of the central nervous system. It has a low incidence but is frequently intractable and does not have effective treatment. The cause of central pain is speculative; however, the single common sensory abnormality in patients with central pain is interruption of spinothalamocortical nociceptive pathways. It appears that severe central nervous system lesions, with total destruction of ascending sensory systems, do not lead to a central pain syndrome; and that setting of mild, moderate, or severe disruption of the anterolateral ascending system with partial or complete preservation of the dorsal column/medial lemniscus functions is most frequently associated with central pain syndrome. Furthermore, even during remission, dysesthesias and pain could be triggered by additional afferent input to the large fiber/dorsal column/medial lemniscus system and, once established, they may not be abolished by additional deafferentation. PMID:8413354

  7. The forensic implications of Turner's syndrome.

    PubMed

    Power, Theresa; Langlois, Neil E I; Byard, Roger W

    2014-05-01

    Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing. PMID:24313855

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

    PubMed Central

    Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

    2015-01-01

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

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

    PubMed

    Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

    2015-08-14

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

  10. T and B Lymphocyte Subpopulations

    ERIC Educational Resources Information Center

    Seeger, Robert C.; Stiehm, E. Richard

    1975-01-01

    Reviewed are diagnostic tests of symphocyte subgroups which identify immuno deficiency disorders (such as DiGeorge's Syndrome) and malignant cells in lymphoproliferative disorders (such as lumphoid leukemia). (CL)

  11. Transplant Center Search Form

    MedlinePlus

    ... Congenital dyskeratosis Other: Desmoid small round cell Other: Diamond Blackfan Anemia Other: DiGeorge anomaly Other: Dyserythropoietic anemia ... Retinoblastoma Other: Rhabdomyosarcoma Other: Sanfillipo Syndrome Other: Schwachman-Diamond ... SCIDS Other: Scleroderma Other: Scleromyxedema Other: ...

  12. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

    PubMed Central

    Kasperavičiūtė, Dalia; Catarino, Claudia B.; Heinzen, Erin L.; Depondt, Chantal; Cavalleri, Gianpiero L.; Caboclo, Luis O.; Tate, Sarah K.; Jamnadas-Khoda, Jenny; Chinthapalli, Krishna; Clayton, Lisa M.S.; Shianna, Kevin V.; Radtke, Rodney A.; Mikati, Mohamad A.; Gallentine, William B.; Husain, Aatif M.; Alhusaini, Saud; Leppert, David; Middleton, Lefkos T.; Gibson, Rachel A.; Johnson, Michael R.; Matthews, Paul M.; Hosford, David; Heuser, Kjell; Amos, Leslie; Ortega, Marcos; Zumsteg, Dominik; Wieser, Heinz-Gregor; Steinhoff, Bernhard J.; Krämer, Günter; Hansen, Jörg; Dorn, Thomas; Kantanen, Anne-Mari; Gjerstad, Leif; Peuralinna, Terhi; Hernandez, Dena G.; Eriksson, Kai J.; Kälviäinen, Reetta K.; Doherty, Colin P.; Wood, Nicholas W.; Pandolfo, Massimo; Duncan, John S.; Sander, Josemir W.; Delanty, Norman

    2010-01-01

    Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio <1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies. PMID:20522523

  13. Gilles de la Tourette syndrome

    MedlinePlus

    ... cannot control. The condition is commonly called Tourette syndrome. ... Tourette syndrome ... fewer people have more severe forms of Tourette syndrome. Tourette syndrome is four times as likely to occur ...

  14. Acute Respiratory Distress Syndrome.

    PubMed

    Yadam, Suman; Bihler, Eric; Balaan, Marvin

    2016-01-01

    Acute respiratory distress syndrome (ARDS) is a serious inflammatory disorder with high mortality. Its main pathologic mechanism seems to result from increased alveolar permeability. Its definition has also changed since first being described according to the Berlin definition, which now classifies ARDS on a severity scale based on PaO2 (partial pressure of oxygen, arterial)/FIO2 (fraction of inspired oxygen) ratio. The cornerstone of therapy was found to be a low tidal volume strategy featuring volumes of 6 to 8 mL per kg of ideal body weight that has been shown to have decreased mortality as proven by the ARDSnet trials. There are other areas of treatment right now that include extracorporeal membrane oxygenation, as well for severe refractory hypoxemia. Other methods that include prone positioning for ventilation have also shown improvements in oxygenation. Positive end-expiratory pressure with lung recruitment maneuvers has also been found to be helpful. Other therapies that include vasodilators and neuromuscular agents are still being explored and need further studies to define their role in ARDS. PMID:26919679

  15. Wettability of partially suspended graphene.

    PubMed

    Ondarçuhu, Thierry; Thomas, Vincent; Nuñez, Marc; Dujardin, Erik; Rahman, Atikur; Black, Charles T; Checco, Antonio

    2016-01-01

    The dependence of the wettability of graphene on the nature of the underlying substrate remains only partially understood. Here, we systematically investigate the role of liquid-substrate interactions on the wettability of graphene by varying the area fraction of suspended graphene from 0 to 95% by means of nanotextured substrates. We find that completely suspended graphene exhibits the highest water contact angle (85° ± 5°) compared to partially suspended or supported graphene, regardless of the hydrophobicity (hydrophilicity) of the substrate. Further, 80% of the long-range water-substrate interactions are screened by the graphene monolayer, the wettability of which is primarily determined by short-range graphene-liquid interactions. By its well-defined chemical and geometrical properties, supported graphene therefore provides a model system to elucidate the relative contribution of short and long range interactions to the macroscopic contact angle. PMID:27072195

  16. Wettability of partially suspended graphene

    DOE PAGESBeta

    Ondarçuhu, Thierry; Thomas, Vincent; Nuñez, Marc; Dujardin, Erik; Rahman, Atikur; Black, Charles T.; Checco, Antonio

    2016-04-13

    Dependence on the wettability of graphene on the nature of the underlying substrate remains only partially understood. We systematically investigate the role of liquid-substrate interactions on the wettability of graphene by varying the area fraction of suspended graphene from 0 to 95% by means of nanotextured substrates. We find that completely suspended graphene exhibits the highest water contact angle (85° ± 5°) compared to partially suspended or supported graphene, regardless of the hydrophobicity (hydrophilicity) of the substrate. Moreover, 80% of the long-range water-substrate interactions are screened by the graphene monolayer, the wettability of which is primarily determined by short-range graphene-liquidmore » interactions. By its well-defined chemical and geometrical properties, supported graphene therefore provides a model system to elucidate the relative contribution of short and long range interactions to the macroscopic contact angle.« less

  17. Wettability of partially suspended graphene

    PubMed Central

    Ondarçuhu, Thierry; Thomas, Vincent; Nuñez, Marc; Dujardin, Erik; Rahman, Atikur; Black, Charles T.; Checco, Antonio

    2016-01-01

    The dependence of the wettability of graphene on the nature of the underlying substrate remains only partially understood. Here, we systematically investigate the role of liquid-substrate interactions on the wettability of graphene by varying the area fraction of suspended graphene from 0 to 95% by means of nanotextured substrates. We find that completely suspended graphene exhibits the highest water contact angle (85° ± 5°) compared to partially suspended or supported graphene, regardless of the hydrophobicity (hydrophilicity) of the substrate. Further, 80% of the long-range water-substrate interactions are screened by the graphene monolayer, the wettability of which is primarily determined by short-range graphene-liquid interactions. By its well-defined chemical and geometrical properties, supported graphene therefore provides a model system to elucidate the relative contribution of short and long range interactions to the macroscopic contact angle. PMID:27072195

  18. Partial hydatidiform mole: ultrasonographic features.

    PubMed

    Woo, J S; Hsu, C; Fung, L L; Ma, H K

    1983-05-01

    Four patients with partial hyatidiform mole managed at the Queen Mary Hospital, Hong Kong, are described. The diagnosis of blighted ovum or missed abortion was made on the sonographic findings prior to suction evacuation. The dominant features in these cases consisted of a relatively large central transonic area bearing the appearance of an empty gestational sac and surrounded by a thick rim of low-level placenta-like echoes; in contrast with the case of the blighted ovum, a well-defined echogenic sac wall is absent. In another 9 patients with molar pregnancy managed during the same period, the more typical 'snow-storm' vesicular appearance was present. It was concluded that the anembryonic appearance described should alert the sonologist and clinician to the possible diagnosis of partial hydatitiform mole. The evacuated material from the uterine cavity should be examined morphologically and if possible cytogenetically. PMID:6578773

  19. Wettability of partially suspended graphene

    NASA Astrophysics Data System (ADS)

    Ondarçuhu, Thierry; Thomas, Vincent; Nuñez, Marc; Dujardin, Erik; Rahman, Atikur; Black, Charles T.; Checco, Antonio

    2016-04-01

    The dependence of the wettability of graphene on the nature of the underlying substrate remains only partially understood. Here, we systematically investigate the role of liquid-substrate interactions on the wettability of graphene by varying the area fraction of suspended graphene from 0 to 95% by means of nanotextured substrates. We find that completely suspended graphene exhibits the highest water contact angle (85° ± 5°) compared to partially suspended or supported graphene, regardless of the hydrophobicity (hydrophilicity) of the substrate. Further, 80% of the long-range water-substrate interactions are screened by the graphene monolayer, the wettability of which is primarily determined by short-range graphene-liquid interactions. By its well-defined chemical and geometrical properties, supported graphene therefore provides a model system to elucidate the relative contribution of short and long range interactions to the macroscopic contact angle.

  20. Partial stabilization-based guidance.

    PubMed

    Shafiei, M H; Binazadeh, T

    2012-01-01

    A novel nonlinear missile guidance law against maneuvering targets is designed based on the principles of partial stability. It is demonstrated that in a real approach which is adopted with actual situations, each state of the guidance system must have a special behavior and asymptotic stability or exponential stability of all states is not realistic. Thus, a new guidance law is developed based on the partial stability theorem in such a way that the behaviors of states in the closed-loop system are in conformity with a real guidance scenario that leads to collision. The performance of the proposed guidance law in terms of interception time and control effort is compared with the sliding mode guidance law by means of numerical simulations. PMID:21963401

  1. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  2. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

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

  3. Angelman syndrome.

    PubMed

    Kyllerman, Mårten

    2013-01-01

    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. PMID:23622177

  4. Premenstrual syndrome

    PubMed Central

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

    2011-01-01

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

  5. Boerhaave's syndrome.

    PubMed Central

    Janjua, K. J.

    1997-01-01

    Boerhaave's syndrome or spontaneous oesophageal perforation, is a potentially lethal and frequently elusive medical condition which presents not only a diagnostic but also a therapeutic challenge. It is insufficiently considered in diagnostic hypotheses, yet may be confirmed or excluded by simple methods such as an erect chest film and a contrast study of the oesophagus. Errors in diagnosis are usually caused by unawareness of its varied and atypical presentations or failure to consider its possibility in acute cardiothoracic and upper gastrointestinal conditions. Early aggressive surgical intervention in the form of open and wide mediastinal and chest drainage, with or without oesophageal repair, resection or exclusion, offers the patient the best chance of survival against this otherwise invariably fatal event. Nonoperative therapy consisting of antibiotics, nil oral regimen, nasogastric tube suction, pleural drainage, H2 receptor blockers and either a feeding enterostomy or total parenteral nutrition, may also be appropriate in selected patients. It is probable that the condition is more common than is generally supposed. All clinicians need to be aware of this lethal disease, its frequently unusual presentations and the importance of early diagnosis. Images Figure 1 Figure 2 PMID:9196697

  6. Tourette's syndrome.

    PubMed

    Müller-Vahl, Kirsten R

    2009-01-01

    Tourette's syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports and preliminary controlled studies it is suggested that - at least in a subgroup of patients - cannabinoids are effective in the treatment of TS. While most patients report beneficial effects when smoking marijuana (Cannabis sativa L.), available clinical trials have been performed using oral Δ⁹-tetrahydrocannabinol (THC). In otherwise treatment-resistant TS patients, therefore, therapy with THC should not be left unattempted. To date, it is unknown whether other drugs that interact with the endocannabinoid receptor system might be more effective in the treatment of TS than smoked marijuana or pure THC. Since it has been suggested that abnormalities within the endocannabinoid receptor system might underlie TS pathophysiology, it would be of interest to investigate the effect of substances that for example bind more selectively to the central cannabinoid receptor or inhibit the uptake or the degradation of different endocannabinoids. PMID:21104394

  7. Prader-Willi syndrome

    MedlinePlus

    ... chromosome 15 and none from the father These genetic changes occur randomly. Persons who have this syndrome ... Genetic testing is available to test children for Prader-Willi syndrome. As the child grows older, lab ...

  8. Lennox-Gastaut Syndrome

    MedlinePlus

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

  9. Beckwith-Wiedemann syndrome

    MedlinePlus

    Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. It is ... Beckwith-Wiedemann syndrome is caused by a defect in the genes on chromosome 11. About 10% of cases can ...

  10. Obesity Hypoventilation Syndrome

    MedlinePlus

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

  11. Milk-alkali syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  12. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Calva, Daniel; Howe, James R.

    2009-01-01

    Synopsis Since the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk. PMID:18672141

  13. Complex regional pain syndrome

    MedlinePlus

    Complex regional pain syndrome (CRPS) is a chronic pain condition that can affect any area of the ... Bailey A, Audette JF. Complex regional pain syndrome. In: Frontera ... of Physical Medicine and Rehabilitation. 2nd ed. Philadelphia, ...

  14. Sick sinus syndrome

    MedlinePlus

    ... chambers is a common cause of sick sinus syndrome. Coronary artery disease , high blood pressure, and aortic and ... pressure may be normal or low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus ...

  15. Riley-Day syndrome

    MedlinePlus

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

  16. Dubin-Johnson syndrome

    MedlinePlus

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

  17. Klippel-Trenaunay syndrome

    MedlinePlus

    ... present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine stains or other blood vessel problems, including dark ...

  18. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

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

  19. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... Neonatal RDS occurs in infants whose lungs have not yet fully ... disease is mainly caused by a lack of a slippery substance in ...

  20. Anisocoria and Horner's Syndrome

    MedlinePlus

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

  1. Riley-Day syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001387.htm Riley-Day syndrome To use the sharing features on this page, please enable JavaScript. Riley-Day syndrome is an inherited disorder that affects nerves ...

  2. Klippel-Trenaunay syndrome

    MedlinePlus

    ... typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine ... the skin Varicose veins (may be seen in early infancy, but are ...

  3. What Is Down Syndrome?

    MedlinePlus

    ... chromosome. What Is the Likelihood of Having a Second Child with Down Syndrome? Once a woman has ... Down syndrome. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, ...

  4. Scalded skin syndrome

    MedlinePlus

    Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Scalded skin syndrome (SSS) is caused by infection with certain strains of Staphylococcus bacteria. The bacteria produce a toxin that causes the skin ...

  5. Hantavirus Pulmonary Syndrome (HPS)

    MedlinePlus

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

  6. Rubinstein-Taybi syndrome

    MedlinePlus

    Rubinstein syndrome, RTS ... Rubinstein-Taybi Parents Group USA: www.rubinstein-taybi.org ... Philadelphia, PA: Elsevier; 2016:chap 14. Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews. 2014;8. PMID: 20301699 ...

  7. Sjogren-Larsson Syndrome

    MedlinePlus

    ... Sjogren-Larsson Syndrome Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations in a gene ... in the body, leading to SLS. How is SLS diagnosed? SLS can be diagnosed by a biochemical ...

  8. Irritable bowel syndrome - aftercare

    MedlinePlus

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's ... . Philadelphia, PA: Elsevier Mosby; 2015:pages 669-70. What I ...

  9. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish Premenstrual Syndrome (PMS) FAQ057, May 2015 PDF Format ... Your Practice Patient Safety & Quality Payment Reform (MACRA) Education & Events Annual ... Pamphlets Teen Health About ACOG About Us Leadership & ...

  10. Shaken baby syndrome

    MedlinePlus

    Shaken baby syndrome is a severe form of child abuse caused by violently shaking an infant or child. ... Shaken baby syndrome can occur from as little as 5 seconds of shaking. Shaken baby injuries most often occur ...

  11. Ehlers-Danlos syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001468.htm Ehlers-Danlos syndrome To use the sharing features on this page, please enable JavaScript. Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked ...

  12. Restless legs syndrome

    MedlinePlus

    Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get ... DA, Bista SR, et al. The treatment of restless legs syndrome and periodic limb movement disorder in adults-an ...

  13. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... include: Bluish color of the skin and mucus membranes (cyanosis) Brief stop in breathing (apnea) Decreased urine ...

  14. Immune Reconstitution Syndrome

    MedlinePlus

    ... RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... may occur in about 20% of people starting ART. HOW WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  15. Polycystic Ovary Syndrome FAQ

    MedlinePlus

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  16. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome is a disorder passed down through families ( ...

  17. Anteriorly Based Partial Thickness Sternocleidomastoid Muscle Flap Following Parotidectomy.

    PubMed

    Dalmia, Deepak; Behera, Sanjaya Kumar; Bhatia, Jas Simran Singh

    2016-03-01

    The anteriorly based partial thickness sternocleidomastoid (SCM) muscle flap is among the various methods described to correct parotidectomy defects, but its indications and limitations are not clearly demonstrated in several reports. This study was done to test the aesthetic outcome of this method, its indications and limitations. At Dr. Babasaheb Ambedkar Memorial hospital, Mumbai, 20 patients presenting with benign parotid tumors underwent parotidectomy. 16 underwent superficial parotidectomy and 3 underwent adequate parotidectomy, 1 had total parotidectomy. The anteriorly based partial thickness SCM muscle flap was used to correct the contour deformity and to prevent Frey syndrome. The aesthetic result was evaluated by assessing and scoring the overall appearance of the scar, the degree of symmetry of the reconstructed parotid region and the site of the donor muscle in comparison to their contralateral normal sides. The overall aesthetic appearance was good in 17 patients, and moderate in 3 patients. 17/20 patients had an overall deep satisfaction with the result. The residual hollowness following total parotidectomy defect and the poor quality of scars were the main reasons affecting the aesthetic outcome. Superficial parotidectomy through modified Blair's incision with immediate reconstruction with anteriorly based partial thickness SCM flap allows a satisfactory aesthetic outcome and minimal donor site morbidity. Scores of the above two parameters were accessed. Patients' satisfaction was assessed by patients questionnaire. PMID:27066413

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  19. Cardio-renal syndrome

    PubMed Central

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  20. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

  1. [Morning glory syndrome].

    PubMed

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

    2011-01-01

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

  2. Stiff skin syndrome.

    PubMed

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  3. CONSTIPATION IN RETT SYNDROME

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  4. Learning about WAGR Syndrome

    MedlinePlus

    ... a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye ... treatment. Surgery may also be done when a boy with WAGR syndrome has undescended testes. When girls with WAGR syndrome have abnormal ovaries, they have ...

  5. Positive partial transpose from spectra

    SciTech Connect

    Hildebrand, Roland

    2007-11-15

    In this paper we solve the following problem. Let H{sub nm} be a Hilbert space of dimension nm, and let A be a positive semidefinite self-adjoint linear operator on H{sub nm}. Under which conditions on the spectrum has A a positive partial transpose (is PPT) with respect to any partition H{sub n} x H{sub m} of the space H{sub nm} as a tensor product of an n-dimensional and an m-dimensional Hilbert space? We show that the necessary and sufficient conditions can be expressed as a set of linear matrix inequalities (LMIs) on the eigenvalues of A.

  6. Partial coalescence of soap bubbles

    NASA Astrophysics Data System (ADS)

    Harris, Daniel M.; Pucci, Giuseppe; Bush, John W. M.

    2015-11-01

    We present the results of an experimental investigation of the merger of a soap bubble with a planar soap film. When gently deposited onto a horizontal film, a bubble may interact with the underlying film in such a way as to decrease in size, leaving behind a smaller daughter bubble with approximately half the radius of its progenitor. The process repeats up to three times, with each partial coalescence event occurring over a time scale comparable to the inertial-capillary time. Our results are compared to the recent numerical simulations of Martin and Blanchette and to the coalescence cascade of droplets on a fluid bath.

  7. CANDLE syndrome: a recently described autoinflammatory syndrome.

    PubMed

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  8. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy. PMID:26971503

  9. Immune Disorder HSCT Protocol

    ClinicalTrials.gov

    2016-01-09

    Immune Deficiency Disorders:; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorder:; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

  10. The Architecture of the Pollen Hoarding Syndrome in Honey Bees: Implications for Understanding Social Evolution, Behavioral Syndromes, and Selective Breeding

    PubMed Central

    Rueppell, Olav

    2014-01-01

    Social evolution has influenced every aspect of contemporary honey bee biology, but the details are difficult to reconstruct. The reproductive ground plan hypothesis of social evolution proposes that central regulators of the gonotropic cycle of solitary insects have been coopted to coordinate social complexity in honey bees, such as the division of labor among workers. The predicted trait associations between reproductive physiology and social behavior have been identified in the context of the pollen hoarding syndrome, a larger suite of interrelated traits. The genetic architecture of this syndrome is characterized by a partially overlapping genetic architecture with several consistent, pleiotropic QTL. Despite these central QTL and an integrated hormonal regulation, separate aspects of the pollen hoarding syndrome may evolve independently due to peripheral QTL and additionally segregating genetic variance. The characterization of the pollen hoarding syndrome has also demonstrated that this syndrome involves many non-behavioral traits, which may be the case for numerous “behavioral” syndromes. Furthermore, the genetic architecture of the pollen hoarding syndrome has implications for breeding programs for improving honey health and other desirable traits: If these traits are comparable to the pollen hoarding syndrome, consistent pleiotropic QTL will enable marker assisted selection, while sufficient additional genetic variation may permit the dissociation of trade-offs for efficient multiple trait selection. PMID:25506100

  11. Small for Size and Flow (SFSF) syndrome: An alternative description for posthepatectomy liver failure.

    PubMed

    Golriz, Mohammad; Majlesara, Ali; El Sakka, Saroa; Ashrafi, Maryam; Arwin, Jalal; Fard, Nassim; Raisi, Hanna; Edalatpour, Arman; Mehrabi, Arianeb

    2016-06-01

    Small for Size Syndrome (SFSS) syndrome is a recognizable clinical syndrome occurring in the presence of a reduced mass of liver, which is insufficient to maintain normal liver function. A definition has yet to be fully clarified, but it is a common clinical syndrome following partial liver transplantation and extended hepatectomy, which is characterized by postoperative liver dysfunction with prolonged cholestasis and coagulopathy, portal hypertension, and ascites. So far, this syndrome has been discussed with focus on the remnant size of the liver after partial liver transplantation or extended hepatectomy. However, the current viewpoints believe that the excessive flow of portal vein for the volume of the liver parenchyma leads to over-pressure, sinusoidal endothelial damages and haemorrhage. The new hypothesis declares that in both extended hepatectomy and partial liver transplantation, progression of Small for Size Syndrome is not determined only by the "size" of the liver graft or remnant, but by the hemodynamic parameters of the hepatic circulation, especially portal vein flow. Therefore, we suggest the term "Small for Size and Flow (SFSF)" for this syndrome. We believe that it is important for liver surgeons to know the pathogenesis and manifestation of this syndrome to react early enough preventing non-reversible tissue damages. PMID:26516057

  12. A partially duplicated discoid lateral meniscus.

    PubMed

    Kim, S J; Lee, Y T; Choi, C H; Kim, D W

    1998-01-01

    Partially duplicated discoid lateral meniscus has not been previously reported. We present a case of a partially duplicated discoid lateral meniscus with a peripheral tear of the meniscus and a concomitant cartilage lesion of the lateral femoral condyle. PMID:9681547

  13. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  14. Hereditary Hamartomatous Polyposis Syndromes

    PubMed Central

    2010-01-01

    Hamartomatous polyposis syndromes are a rare group of hereditary autosomal dominant disorders that comprise less than 1% of all hereditary colorectal cancers. Hamartomatous polyps, in and of themselves, are benign entities; however, these hamartomatous polyposis syndromes have a malignant potential for the development of colorectal cancer as well as extracolonic cancers. Early detection and proper surveillance are vital to minimizing the risk of carcinoma. This article provides a critical review of the clinical presentation, pathology, genetics, and screening and surveillance guidelines of juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. PMID:20567567

  15. Barth syndrome

    PubMed Central

    2013-01-01

    First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage

  16. The neuropathic postural tachycardia syndrome

    NASA Technical Reports Server (NTRS)

    Jacob, G.; Costa, F.; Shannon, J. R.; Robertson, R. M.; Wathen, M.; Stein, M.; Biaggioni, I.; Ertl, A.; Black, B.; Robertson, D.

    2000-01-01

    BACKGROUND: The postural tachycardia syndrome is a common disorder that is characterized by chronic orthostatic symptoms and a dramatic increase in heart rate on standing, but that does not involve orthostatic hypotension. Several lines of evidence indicate that this disorder may result from sympathetic denervation of the legs. METHODS: We measured norepinephrine spillover (the rate of entry of norepinephrine into the venous circulation) in the arms and legs both before and in response to exposure to three stimuli (the cold pressor test, sodium nitroprusside infusion, and tyramine infusion) in 10 patients with the postural tachycardia syndrome and in 8 age- and sex-matched normal subjects. RESULTS: At base line, the mean (+/-SD) plasma norepinephrine concentration in the femoral vein was lower in the patients with the postural tachycardia syndrome than in the normal subjects (135+/-30 vs. 215+/-55 pg per milliliter [0.80+/-0.18 vs. 1.27+/-0.32 nmol per liter], P=0.001). Norepinephrine spillover in the arms increased to a similar extent in the two groups in response to each of the three stimuli, but the increases in the legs were smaller in the patients with the postural tachycardia syndrome than in the normal subjects (0.001+/-0.09 vs. 0.12+/-0.12 ng per minute per deciliter of tissue [0.006+/-0.53 vs. 0.71+/-0.71 nmol per minute per deciliter] with the cold pressor test, P=0.02; 0.02+/-0.07 vs. 0.23+/-0.17 ng per minute per deciliter [0.12+/-0.41 vs. 1.36+/-1.00 nmol per minute per deciliter] with nitroprusside infusion, P=0.01; and 0.008+/-0.09 vs. 0.19+/-0.25 ng per minute per deciliter [0.05+/-0.53 vs. 1.12+/-1.47 nmol per minute per deciliter] with tyramine infusion, P=0.04). CONCLUSIONS: The neuropathic postural tachycardia syndrome results from partial sympathetic denervation, especially in the legs.

  17. Metabolic syndrome and menopause

    PubMed Central

    2013-01-01

    Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value<0.05). Our study shows high abdominal obesity and hypertension are the most prevalent components of metabolic syndrome. 15%, 13.3% and 1.8% of subjects had three, four and five criteria for metabolic syndrome, respectively. There was a significant relationship between number of components of metabolic syndrome and waist circumference. Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause. PMID:23497470

  18. Partial coalescence of soap bubbles

    NASA Astrophysics Data System (ADS)

    Pucci, G.; Harris, D. M.; Bush, J. W. M.

    2015-06-01

    We present the results of an experimental investigation of the merger of a soap bubble with a planar soap film. When gently deposited onto a horizontal film, a bubble may interact with the underlying film in such a way as to decrease in size, leaving behind a smaller daughter bubble with approximately half the radius of its progenitor. The process repeats up to three times, with each partial coalescence event occurring over a time scale comparable to the inertial-capillary time. Our results are compared to the recent numerical simulations of Martin and Blanchette ["Simulations of surfactant effects on the dynamics of coalescing drops and bubbles," Phys. Fluids 27, 012103 (2015)] and to the coalescence cascade of droplets on a fluid bath.

  19. Partial Return Yoke for MICE

    SciTech Connect

    Witte H.; Plate, S

    2013-05-03

    The international Muon Ionization Cooling Experiment (MICE) is a large scale experiment which is presently assembled at the Rutherford Appleton Laboratory in Didcot, UK. The purpose of MICE is to demonstrate the concept of ionization cooling experimentally. Ionization cooling is an important accelerator concept which will be essential for future HEP experiments such as a potential Muon Collider or a Neutrino Factory. The MICE experiment will house up to 18 superconducting solenoids, all of which produce a substantial amount of magnetic flux. Recently it was realized that this magnetic flux leads to a considerable stray magnetic field in the MICE hall. This is a concern as technical equipment in the MICE hall may may be compromised by this. In July 2012 a concept called partial return yoke was presented to the MICE community, which reduces the stray field in the MICE hall to a safe level. This report summarizes the general concept, engineering considerations and the expected shielding performance.

  20. Partially coherent lensfree tomographic microscopy⋄

    PubMed Central

    Isikman, Serhan O.; Bishara, Waheb; Ozcan, Aydogan

    2012-01-01

    Optical sectioning of biological specimens provides detailed volumetric information regarding their internal structure. To provide a complementary approach to existing three-dimensional (3D) microscopy modalities, we have recently demonstrated lensfree optical tomography that offers high-throughput imaging within a compact and simple platform. In this approach, in-line holograms of objects at different angles of partially coherent illumination are recorded using a digital sensor-array, which enables computing pixel super-resolved tomographic images of the specimen. This imaging modality, which forms the focus of this review, offers micrometer-scale 3D resolution over large imaging volumes of, for example, 10–15 mm3, and can be assembled in light weight and compact architectures. Therefore, lensfree optical tomography might be particularly useful for lab-on-a-chip applications as well as for microscopy needs in resource-limited settings. PMID:22193016

  1. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    PubMed Central

    Sarraf, Mohammad; Schrier, Robert W.

    2011-01-01

    Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed. PMID:21423563

  2. [Tic syndrome].

    PubMed

    Czapliński, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to

  3. The Alice in Wonderland syndrome.

    PubMed

    Fine, Edward J

    2013-01-01

    The Alice in Wonderland syndrome is a term applied to altered bizarre perceptions of size and shapes of a patient's body and illusions of changes in the forms, dimensions, and motions of objects that a patient with this syndrome encounters. These metamorphopsias arise during complex partial seizures, migraine headaches, infections, and intoxications. The illusions and hallucinations resemble the strange phenomena that Alice experienced in Lewis Carroll's Alice's Adventures in Wonderland. Charles Lutwidge Dodgson, whose nom de plume was Lewis Carroll, experienced metamorphopsias. He described them in the story that he wrote for Alice Liddell and her two sisters after he spun a tale about a long and strange dream that the fictional Alice had on a warm summer day. The author of this chapter suggests that Dodgson suffered from migraine headaches and used these experiences to weave an amusing tale for Alice Liddell. The chapter also discusses the neurology of mercury poisoning affecting the behavior of Mad Hatter character. The author suggests that the ever-somnolent Dormouse suffered from excessive daytime sleepiness due to obstructive sleep apnea. PMID:24290480

  4. Plant-derived therapeutics for the treatment of metabolic syndrome

    PubMed Central

    Graf, Brittany L; Raskin, Ilya; Cefalu, William T; Ribnicky, David M

    2011-01-01

    Metabolic syndrome is defined as a set of coexisting metabolic disorders that increase an individual’s likelihood of developing type 2 diabetes, cardiovascular disease and stroke. Medicinal plants, some of which have been used for thousands of years, serve as an excellent source of bioactive compounds for the treatment of metabolic syndrome because they contain a wide range of phytochemicals with diverse metabolic effects. In order for botanicals to be effectively used against metabolic syndrome, however, botanical preparations must be characterized and standardized through the identification of their active compounds and respective modes of action, followed by validation in controlled clinical trials with clearly defined endpoints. This review assesses examples of commonly known and partially characterized botanicals to describe specific considerations for the phytochemical, preclinical and clinical characterization of botanicals associated with metabolic syndrome. PMID:20872313

  5. [Study of novel artificial lung surfactants incorporating partially fluorinated amphiphiles].

    PubMed

    Nakahara, Hiromichi

    2012-01-01

    Lung surfactants (LS), a complex of ∼90 wt% lipids (mainly dipalmitoylphosphatidylcholine or DPPC) and ∼10 wt% surfactant proteins (SP-A, -B, -C, and -D), adsorb to an air-alveolar fluid interface and then lower its surface tension down to near zero during expiration. Intratracheal instillation of exogenous LS preparations can effectively compensate for surfactant deficiency in premature infants with respiratory distress syndrome (RDS). Surfacten® (Mitsubishi Tanabe Pharma Corporation, Osaka, Japan), a modified bovine lung extract and an effective surfactant replacement in treatment for RDS patients, is supplemented with DPPC, palmitic acid, and tripalmitin. For the premature infants suffering from RDS, instillation of Surfacten® leads to a dramatic improvement in lung function and compliance. Herein, the author reviews potential use of newly designed preparations containing a mimicking peptide of SP-B and also introduces the current research on the preparations incorporated with partially fluorinated amphiphiles to improve their efficacy. PMID:22790027

  6. Sudden Death Due to Undiagnosed Wilkie Syndrome.

    PubMed

    Baber, Yeliena Fay; OʼDonnell, Chris

    2016-06-01

    A 56-year-old transgender woman with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome and diabetes presented to hospital with headaches and experiencing with malnutrition. She was agitated and refused medical and physical assistance. Soon after admission, she started to vomit and developed abdominal pain, becoming rapidly unresponsive on the ward after attending the radiology department, and was pronounced deceased. Autopsy revealed a cachectic transgender woman with a grossly distended stomach and proximal duodenum containing 2 L of liquid. The postmortem computed tomography scan showed compression of the duodenum by the superior mesenteric artery, diagnostic of Wilkie syndrome. Superior mesenteric artery syndrome, or Wilkie syndrome, was first described in 1861 by Von Rokitansky. It is an uncommon but well-recognized clinical entity characterized by compression of the third, or transverse, portion of the duodenum between the aorta and the superior mesenteric artery. This results in chronic, intermittent, or acute complete or partial duodenal obstruction. It is a well-recognized complication of anorexia. PMID:26963629

  7. How I treat catastrophic thrombotic syndromes.

    PubMed

    Ortel, Thomas L; Erkan, Doruk; Kitchens, Craig S

    2015-09-10

    Catastrophic thrombotic syndromes are characterized by rapid onset of multiple thromboembolic occlusions affecting diverse vascular beds. Patients may have multiple events on presentation, or develop them rapidly over days to weeks. Several disorders can present with this extreme clinical phenotype, including catastrophic antiphospholipid syndrome (APS), atypical presentations of thrombotic thrombocytopenic purpura (TTP) or heparin-induced thrombocytopenia (HIT), and Trousseau syndrome, but some patients present with multiple thrombotic events in the absence of associated prothrombotic disorders. Diagnostic workup must rapidly determine which, if any, of these syndromes are present because therapeutic management is driven by the underlying disorder. With the exception of atypical presentations of TTP, which are treated with plasma exchange, anticoagulation is the most important therapeutic intervention in these patients. Effective anticoagulation may require laboratory confirmation with anti-factor Xa levels in patients treated with heparin, especially if the baseline (pretreatment) activated partial thromboplastin time is prolonged. Patients with catastrophic APS also benefit from immunosuppressive therapy and/or plasma exchange, whereas patients with HIT need an alternative anticoagulant to replace heparin. Progressive thrombotic events despite therapeutic anticoagulation may necessitate an alternative therapeutic strategy. If the thrombotic process can be controlled, these patients can recover, but indefinite anticoagulant therapy may be appropriate to prevent recurrent events. PMID:26179082

  8. Treatment of West syndrome.

    PubMed

    Sakakihara, Yoichi

    2011-03-01

    West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this syndrome. In this review, previous literature on optimal treatments of West syndrome and its refractory nature were briefly presented, followed by an introduction of recent publication of expert opinions from the US and Europe. An Asian expert opinion generated by a short questionnaire survey was then presented. It was shown that medically proven optimal treatment of West syndrome is not always the practical treatment of choice in Asian countries. Cost and geographical regions should also be taken into account in making practical choices for treatment of West syndrome. PMID:21196092

  9. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

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

  10. Fibromyalgia syndrome and myofascial pain syndrome. Do they exist?

    PubMed

    Bohr, T W

    1995-05-01

    "It is in the healing business that the temptations of junk science are the strongest and the controls against it the weakest." Despite their subjective nature, these syndromes (particularly MPS) have little reliability and validity, and advocates paint them as "objective." Despite a legacy of poor-quality science, enthusiasts continue to cite small, methodologically flawed studies purporting to show biologic variables for these syndromes. Despite a wealth of traditional pain research, disciples continue to ignore the placebo effect, demonstrating a therapeutic hubris despite studies showing a dismal natural history for FS. In reviewing the literature on MPS and FS, F.M.R. Walshe's sage words come to mind that the advocates of these syndromes are "better armed with technique than with judgment." A sympathic observer might claim that labeling patients with monikers of nondiseases such as FS and MPS may not be such a bad thing. After all, there is still a stigma for psychiatric disease in our society, and even telling a sufferer that this plays only a partial role may put that patient on the defensive. Labeling may have iatrogenic consequences, however, particularly in the setting of the work place. Furthermore, review of a typical support group newsletter gives ipso facto proof of this noxious potential. The author of a flyer stuffed inside the newsletter complains that getting social security and disability benefits for "the invisible disability" can be "an uphill battle. But don't loose (sic) hope." Apparently the "seriousness of the condition" is not appreciated by the medical community at large, and "clinician bias may well be the largest threat," according to Boston epidemiologist Dr. John Mason. Sufferers are urged to trek to their local medical library and pull four particular articles claiming FS patients have more "stress," "daily hassles," and difficulty working compared with arthritis patients. If articles can't be located, patients are told to ask their

  11. [Atypical early posttraumatic syndromes (author's transl)].

    PubMed

    Muller, G E

    1974-01-01

    In a consecutive series of 1,925 head injuries, 283 patients (14.7%), could not be classified, neither in the group of simple head injuries without cerebral symptoms, nor in the group of typical concussions characterized by immediate amnesia or observed coma. We have prefered the rather neutral term of atypical early posttraumatic syndromes. In this group, apart from neurovegetative manifestations, partial disturbances of consciousness and perception, we have also classified delayed disturbances of consciousness. Special attention has been given to migraineous phenomena and to a syndrome, characteristic for children, described by Mealey. This is an intermediate group important from a medico-legal point of view because certain transient cerebral manifestations risk to be mistaken for psychological reactions. On the other hand symptoms probably of psychic origin were discussed. PMID:4469864

  12. [X isochromosomes: delayed diagnosis of Turner's syndrome].

    PubMed

    Cuesta Hernández, M; Rueda Valencia, M E; Pérez Rodríguez, O; López de Lara, D

    2015-01-01

    Turner syndrome is diagnosed by the combination of certain phenotypic characteristics with the absence of one of the X chromosome. This absence may be total or partial, as occurs in isochromosomes Xq. The phenotypic consequences of these depend on two factors: the characteristics of the lost genes and the percentage of cells 45, X in mosaicisms. The clinical features also change with the cytogenetic pattern. Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes. Thus, when there is isochromosomes on the long arms, short stature is always present. However, the typical features of this syndrome could be absent, and the diagnosis can be delayed. This occurred in our patients, who will not be able to obtain optimum benefits with growth hormone treatment. PMID:25475905

  13. Nephrotic syndrome redux.

    PubMed

    Glassock, Richard J; Fervenza, Fernando C; Hebert, Lee; Cameron, J Stewart

    2015-01-01

    Redux: brought back, resurgent (Wikipedia free dictionary). This essay traces the history of the concepts that led to the usage of the term 'nephrotic syndrome' beginning ∼90 years ago. We then examined the various definitions used for this syndrome and modified them to conform to contemporary standards. Remarkably, only minor modifications were required. This analysis of a common clinical entity may be helpful in ensuring appropriate evaluation of patients suffering from nephrotic syndrome and nephrotic-range proteinuria. PMID:24723546

  14. Understanding Brugada syndrome.

    PubMed

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  15. [Paraneoplastic syndromes: a review].

    PubMed

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

    2005-01-01

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

  16. Tropical diabetic hand syndrome.

    PubMed

    Tiwari, Sangeeta; Chauhan, Ashutosh; Sethi, N T

    2008-10-01

    Tropical diabetic hand syndrome (TDHS) is a terminology used to describe a specific complication affecting patients with diabetes mellitus in the tropics. The syndrome encompasses a localized cellulitis with variable swelling and ulceration of the hands to progressive, fulminant hand sepsis, potentially fatal. Since this syndrome is less recognized it is often under-reported. Authors present two cases of TDHS and emphasize on aggressive glycemic control and surgical therapy to prevent potential crippling or fatal complications. PMID:20165601

  17. Channeled partial Mueller matrix polarimetry

    NASA Astrophysics Data System (ADS)

    Alenin, Andrey S.; Tyo, J. S.

    2015-09-01

    In prior work,1,2 we introduced methods to treat channeled systems in a way that is similar to Data Reduction Method (DRM), by focusing attention on the Fourier content of the measurement conditions. Introduction of Q enabled us to more readily extract the performance of the system and thereby optimize it to obtain reconstruction with the least noise. The analysis tools developed for that exercise can be expanded to be applicable to partial Mueller Matrix Polarimeters (pMMPs), which were a topic of prior discussion as well. In this treatment, we combine the principles involved in both of those research trajectories and identify a set of channeled pMMP families. As a result, the measurement structure of such systems is completely known and the design of a channeled pMMP intended for any given task becomes a search over a finite set of possibilities, with the additional channel rotation allowing for a more desirable Mueller element mixing.

  18. GLSMs for partial flag manifolds

    NASA Astrophysics Data System (ADS)

    Donagi, Ron; Sharpe, Eric

    2008-12-01

    In this paper we outline some aspects of nonabelian gauged linear sigma models. First, we review how partial flag manifolds (generalizing Grassmannians) are described physically by nonabelian gauged linear sigma models, paying attention to realizations of tangent bundles and other aspects pertinent to (0, 2) models. Second, we review constructions of Calabi-Yau complete intersections within such flag manifolds, and properties of the gauged linear sigma models. We discuss a number of examples of nonabelian GLSMs in which the Kähler phases are not birational, and in which at least one phase is realized in some fashion other than as a complete intersection, extending previous work of Hori-Tong. We also review an example of an abelian GLSM exhibiting the same phenomenon. We tentatively identify the mathematical relationship between such non-birational phases, as examples of Kuznetsov's homological projective duality. Finally, we discuss linear sigma model moduli spaces in these gauged linear sigma models. We argue that the moduli spaces being realized physically by these GLSMs are precisely Quot and hyperquot schemes, as one would expect mathematically.

  19. Genetics Home Reference: Proteus syndrome

    MedlinePlus

    ... Proteus syndrome Additional NIH Resources (3 links) National Human Genome Research Institute: NIH Researchers Identify Gene Variant in Proteus Syndrome (July 27, 2011) National Human Genome Research Institute: Proteus Syndrome: Background Information National Human ...

  20. Genetics Home Reference: Waardenburg syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  1. Genetics Home Reference: Jacobsen syndrome

    MedlinePlus

    ... 11 , Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder 11q23 deletion disorder Jacobsen thrombocytopenia Related ...

  2. Genetics Home Reference: Costello syndrome

    MedlinePlus

    ... Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J ...

  3. Genetics Home Reference: Silver syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Silver syndrome Silver syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Silver syndrome belongs to a group of genetic disorders ...

  4. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  5. First Trimester Down Syndrome Screen

    MedlinePlus

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  6. Genetics Home Reference: Arts syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  7. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4

    SciTech Connect

    Fryns, J.P.; Schrander-Stumpel, C.

    1994-11-01

    The Kabuki (Niikawa-Kuroki) syndrome is a true MCA/MR (multiple congenital anomaly/mental retardation) syndrome characterized by distinct facial changes, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal anomalies. Recently, we examined a 3-year-old girl with the typical clinical signs and symptoms of the Kabuki make-up syndrome. Prometaphase chromosome studies were performed on 62 cells from two different lymphocyte cultures after G-banding. We documented a paracentric inversion in the short arm of chromosome 4 with breakpoints at 4p12 and 4pter: karyotype: 46,XX,inv(4)(p12pter). The present observation of a paracentric inversion of the short arm of chromosome 4 in a child with Kabuki syndrome may therefore be an indication that the Kabuki syndrome is a chromosomal syndrome with partial duplication and/or deficiency within the short arm of chromosome 4. 5 refs., 1 fig.

  8. Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

    PubMed

    Ni, Christina; Zhang, Deming; Beyer, Lisa A; Halsey, Karin E; Fukui, Hideto; Raphael, Yehoash; Dolan, David F; Hornyak, Thomas J

    2013-01-01

    The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) mice were studied and hearing function of these mice characterized. Mitf(Mi-wh) /+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf(Mi-wh) /+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) /+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes. PMID:23020089

  9. Effects of the histone deacetylase inhibitor ITF2357 in autoinflammatory syndromes.

    PubMed

    Bodar, Evelien J; Simon, Anna; van der Meer, Jos W M

    2011-01-01

    We explored the effects of the oral histone deacetylase (HDAC) inhibitor ITF2357 in patients with autoinflammatory syndrome. In this prospective open-label pilot study, eight patients were enrolled; one patient with tumor necrosis factor receptor-associated periodic syndrome (TRAPS), three patients with hyper-IgD and periodic fever syndrome (HIDS) and four patients with Schnitzler syndrome were closely followed during 90 d of ITF2357 treatment. Three patients with Schnitzler syndrome and one TRAPS patient experienced a partial remission. In four patients, there was no effect. In HIDS patients, there was a tendency toward a higher attack frequency and increasing attack severity. In two patients (one TRAPS and one HIDS), we observed a decrease of acute-phase response without signs of clinical improvement. One patient with Schnitzler syndrome showed a partial response despite an ongoing acute-phase response. In conclusion, ITF2357 monotherapy was able to induce partial response only in patients with Schnitzler syndrome and no response in patients with HIDS. PMID:21274502

  10. Compartment Syndrome in Children.

    PubMed

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. PMID:27241380

  11. [Bilateral operculum syndrome].

    PubMed

    Lerman-Sagie, T; Porat-Alkabetz, E; Meir, J J; Harel, S

    1996-09-01

    The bilateral operculum syndrome, is a unique developmental syndrome. It is characterized by spastic paralysis of the muscles of the face, pharynx, and of mastication, as well as by epilepsy and mental retardation. Imaging studies show bilateral, structural abnormalities in the frontal, perisylvian region consistent with polymicrogyria. These children are usually diagnosed as suffering from cerebral palsy, but in the bilateral operculum syndrome, intelligence is relatively preserved despite the severe motor involvement. Misdiagnosis may lead to improper estimation of rehabilitation potential preventing appropriate therapy, especially in the field of alternative communication. We present a 3-year-old boy, apparently the first case of this syndrome to be described in Israel. PMID:8940497

  12. Denys-Drash syndrome.

    PubMed

    Kucinskas, Laimutis; Rudaitis, Sarūnas; Pundziene, Birute; Just, Walter

    2005-01-01

    Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome. PMID:15758579

  13. Organic brain syndrome

    MedlinePlus

    OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Listed below are disorders associated with OBS. Brain injury caused by ... the brain ( subarachnoid hemorrhage ) Blood clot inside the ...

  14. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  15. Animal model of neuropathic tachycardia syndrome

    NASA Technical Reports Server (NTRS)

    Carson, R. P.; Appalsamy, M.; Diedrich, A.; Davis, T. L.; Robertson, D.

    2001-01-01

    Clinically relevant autonomic dysfunction can result from either complete or partial loss of sympathetic outflow to effector organs. Reported animal models of autonomic neuropathy have aimed to achieve complete lesions of sympathetic nerves, but incomplete lesions might be more relevant to certain clinical entities. We hypothesized that loss of sympathetic innervation would result in a predicted decrease in arterial pressure and a compensatory increase in heart rate. Increased heart rate due to loss of sympathetic innervation is seemingly paradoxical, but it provides a mechanistic explanation for clinical autonomic syndromes such as neuropathic postural tachycardia syndrome. Partially dysautonomic animals were generated by selectively lesioning postganglionic sympathetic neurons with 150 mg/kg 6-hydroxydopamine hydrobromide in male Sprague-Dawley rats. Blood pressure and heart rate were monitored using radiotelemetry. Systolic blood pressure decreased within hours postlesion (Delta>20 mm Hg). Within 4 days postlesion, heart rate rose and remained elevated above control levels. The severity of the lesion was determined functionally and pharmacologically by spectral analysis and responsiveness to tyramine. Low-frequency spectral power of systolic blood pressure was reduced postlesion and correlated with the diminished tyramine responsiveness (r=0.9572, P=0.0053). The tachycardia was abolished by treatment with the beta-antagonist propranolol, demonstrating that it was mediated by catecholamines acting on cardiac beta-receptors. Partial lesions of the autonomic nervous system have been hypothesized to underlie many disorders, including neuropathic postural tachycardia syndrome. This animal model may help us better understand the pathophysiology of autonomic dysfunction and lead to development of therapeutic interventions.

  16. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

    PubMed Central

    Acers, T E

    1981-01-01

    Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome. Images FIGURE 2 FIGURE 3 a FIGURE 3 b FIGURE 4 a FIGURE 4 b FIGURE 4 c FIGURE 4 d PMID:7043865

  17. Quantum states with strong positive partial transpose

    SciTech Connect

    Chruscinski, Dariusz; Jurkowski, Jacek; Kossakowski, Andrzej

    2008-02-15

    We construct a large class of bipartite M x N quantum states which defines a proper subset of states with positive partial transposes (PPTs). Any state from this class has PPT but the positivity of its partial transposition is recognized with respect to canonical factorization of the original density operator. We propose to call elements from this class states with strong positive partial transposes (SPPTs). We conjecture that all SPPT states are separable.

  18. 20% PARTIAL SIBERIAN SNAKE IN THE AGS.

    SciTech Connect

    Huang, H; Bai, M; Brown, K A; Glenn, W; Luccio, A U; Mackay, W W; Montag, C; Ptitsyn, V; Roser, T; Tsoupas, N; Zeno, K; Ranjbar, V; Spinka, H; Underwood, D

    2002-11-06

    An 11.4% partial Siberian snake was used to successfully accelerate polarized proton through a strong intrinsic depolarizing spin resonance in the AGS. No noticeable depolarization was observed. This opens up the possibility of using a 20% to 30% partial Siberian snake in the AGS to overcome all weak and strong depolarizing spin resonances. Some design and operation issues of the new partial Siberian snake are discussed.

  19. Genetic alterations in syndromes with oral manifestations

    PubMed Central

    Anuthama, Krishnamurthy; Prasad, Harikrishnan; Ramani, Pratibha; Premkumar, Priya; Natesan, Anuja; Sherlin, Herald J.

    2013-01-01

    Ever since Gregor Johan Mendel proposed the law of inheritance, genetics has transcended the field of health and has entered all walks of life in its application. Thus, the gene is the pivoting factor for all happenings revolving around it. Knowledge of gene mapping in various diseases would be a valuable tool in prenatally diagnosing the condition and averting the future disability and stigma for the posterity. This article includes an array of genetically determined conditions in patients seen at our college out-patient department with complete manifestation, partial manifestation and array of manifestations not fitting into a particular syndrome. PMID:24379857

  20. Partial Derivatives of the Lambert Problem

    NASA Technical Reports Server (NTRS)

    Arora, Nitin; Russell, Ryan P.; Strange, Nathan

    2014-01-01

    A procedure for deriving analytic partial derivatives of the Lambert problem is presented. Using the universal, cosine based Lambert formulation; first order partial derivatives of the velocities with respect to the positions and times are developed. Taking advantage of inherent symmetries and intermediate variables, the derivatives are expressed in a computationally efficient form. The added cost of computing these partials is found to be approximately 10% to approximately 60% of the Lambert compute cost. The availability of analytic partial derivatives increases optimization speed, efficiency and allows for trajectory optimization formulations that implicitly enforce continuity constraints via embedded Lambert problems.