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Sample records for syndromic mental deficiency

  1. MENTAL DEFICIENCY. SECOND EDITION.

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    HILLIARD, L.T.; KIRMAN, BRIAN H.

    REVISED TO INCLUDE LEGISLATIVE AND ADMINISTRATIVE PROCEDURES NEW IN BRITAIN SINCE THE 1957 EDITION, THE TEXT INCLUDES RECENT ADVANCES IN ETIOLOGY, PATHOLOGY, AND TREATMENT OF MENTAL DEFICIENCY. CONSIDERATION OF THE BACKGROUND OF MENTAL DEFICIENCY INCLUDES HISTORICAL AND LEGAL ASPECTS, THE SOCIAL BACKGROUND OF MENTAL DEFECT, PRENATAL CAUSES OF…

  2. X-linked mental deficiency.

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    des Portes, Vincent

    2013-01-01

    Ten percent of cases of intellectual deficiency in boys are caused by genes located on the X chromosome. X-linked mental retardation (XLMR) includes more than 200 syndromes and 80 genes identified to date. The fragile X syndrome is the most frequent syndrome, due to a dynamic mutation with a CGG triplet amplification. Mental retardation is virtually always present. Phonological and syntactic impairments are often combined with pragmatic language impairment and visuospatial reasoning difficulties. A minority fulfill the criteria for autism. In girls, the clinical expression of the complete mutation varies according to the X chromosome inactivation profile. Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thalassemia/mental retardation X-linked), Allan-Herdon-Dudley syndrome (MCT8 gene). Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved. Oligophrenine 1 (OPHN-1) gene mutations lead to vermal dysplasia. PQBP1 gene mutations (Renpenning syndrome) are responsible for moderate to severe mental deficiency, microcephaly, and small stature. Although some forms of XLMR are not very specific and the phenotype for each given gene is somewhat heterogeneous, a clinical diagnostic strategy is emerging. Copyright © 2013 Elsevier B.V. All rights reserved.

  3. A New Syndrome with Hypotonia, Obesity, Mental Deficiency, and Facial, Oral, Ocular, and Limb Anomalies

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    Cohen, M. Michael, Jr.; And Others

    1973-01-01

    Presented were three case reports of patients, 8 to 18 years of age, who shared common features, such as obesity beginning in midchildhood, hypotonia, mental deficiency characteristic craniofacial appearance (antimongoloid slant, open mouth, or prominent central incisors), oral and ocular anomalies, and tapering extremities with narrow hands and…

  4. Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency.

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    Tabagh, Refaat; Andres, Christian R; Védrine, Sylviane; Cherpi-Antar, Catherine; Thepault, Rose-Anne; Mignon, Laurence; Dufour-Rainfray, Diane; Moraine, Claude; Vourc'h, Patrick

    2010-02-22

    Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotonergic and the brain-derived neurotrophic (BDNF) pathways. The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (SLC6A4) and the brain-derived neurotrophic factor gene (BDNF), are associated with mental deficiency (MD). We analyzed four functional polymorphisms (rs25531, 5-HTTLPR, VNTR, rs3813034) of the SLC6A4 gene and one functional polymorphism (Val66 Met) of the BDNF gene in 98 patients with non-syndromic mental deficiency (NS-MD) and in an ethnically matched control population of 251 individuals. We found no significant differences in allele and genotype frequencies in the five polymorphisms studied in the SLC6A4 and BDNF genes of NS-MD patients versus control patients. While the comparison of the patterns of linkage disequilibrium (D') in the control and NS-MD populations revealed a degree of variability it did not, however, reach significance. No significant differences in frequencies of haplotypes and genotypes for VNTR/rs3813034 and rs25531/5-HTTLPR were observed. Altogether, results from the present study do not support a role for any of the five functional polymorphisms of SLC6A4 and BDNF genes in the aetiology of NS-RM. Moreover, they suggest no epistatic interaction in NS-MD between polymorphisms in BDNF and SLC6A4. However, we suggest that further studies on these two pathways in NS-MD remain necessary.

  5. Study of the serotonin transporter (SLC6A4 and BDNF genes in French patients with non syndromic mental deficiency

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    Mignon Laurence

    2010-02-01

    Full Text Available Abstract Background Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotonergic and the brain-derived neurotrophic (BDNF pathways. The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (SLC6A4 and the brain-derived neurotrophic factor gene (BDNF, are associated with mental deficiency (MD. Methods We analyzed four functional polymorphisms (rs25531, 5-HTTLPR, VNTR, rs3813034 of the SLC6A4 gene and one functional polymorphism (Val66 Met of the BDNF gene in 98 patients with non-syndromic mental deficiency (NS-MD and in an ethnically matched control population of 251 individuals. Results We found no significant differences in allele and genotype frequencies in the five polymorphisms studied in the SLC6A4 and BDNF genes of NS-MD patients versus control patients. While the comparison of the patterns of linkage disequilibrium (D' in the control and NS-MD populations revealed a degree of variability it did not, however, reach significance. No significant differences in frequencies of haplotypes and genotypes for VNTR/rs3813034 and rs25531/5-HTTLPR were observed. Conclusion Altogether, results from the present study do not support a role for any of the five functional polymorphisms of SLC6A4 and BDNF genes in the aetiology of NS-RM. Moreover, they suggest no epistatic interaction in NS-MD between polymorphisms in BDNF and SLC6A4. However, we suggest that further studies on these two pathways in NS-MD remain necessary.

  6. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

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    Murakami, Yoshiko; Kanzawa, Noriyuki; Saito, Kazunobu; Krawitz, Peter M; Mundlos, Stefan; Robinson, Peter N; Karadimitris, Anastasios; Maeda, Yusuke; Kinoshita, Taroh

    2012-02-24

    Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels, is caused by mutations in the coding region of the phosphatidylinositol glycan anchor biosynthesis, class V (PIGV) gene, the product of which is a mannosyltransferase essential for glycosylphosphatidylinositol (GPI) biosynthesis. Mutations found in four families caused amino acid substitutions A341E, A341V, Q256K, and H385P, which drastically decreased expression of the PIGV protein. Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. In contrast, a previously reported PIGM deficiency, in which there is a defect in the transfer of the first mannose, does not result in hyperphosphatasia. To provide insights into the mechanism of ALP secretion in HPMR patients, we took advantage of CHO cell mutants that are defective in various steps of GPI biosynthesis. Secretion of ALP requires GPI transamidase, which in normal cells, cleaves the C-terminal GPI attachment signal peptide and replaces it with GPI. The GPI-anchored protein was secreted substantially into medium from PIGV-, PIGB-, and PIGF-deficient CHO cells, in which incomplete GPI bearing mannose was accumulated. In contrast, ALP was degraded in PIGL-, DPM2-, or PIGX-deficient CHO cells, in which incomplete shorter GPIs that lacked mannose were accumulated. Our results suggest that GPI transamidase recognizes incomplete GPI bearing mannose and cleaves a hydrophobic signal peptide, resulting in secretion of soluble ALP. These results explain the molecular mechanism of hyperphosphatasia in HPMR.

  7. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

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    Chiyonobu, Tomohiro; Inoue, Norimitsu; Morimoto, Masafumi; Kinoshita, Taroh; Murakami, Yoshiko

    2014-03-01

    Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more kinds of proteins to the human cell surface. There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs). Recently, inherited GPI deficiencies (IGDs) were reported which cause intellectual disability often accompanied by epilepsy, coarse facial features and multiple anomalies that vary in severity depending upon the degree of defect and/or step in the pathway of affected gene. A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW by targeted sequencing. Here we describe the first patient with deficiency of PIGW, which is involved in the addition of the acyl-chain to inositol in an early step of GPI biosynthesis. Therefore, IGD should be considered in West syndrome and flow cytometric analysis of blood cells is effective in screening IGD.

  8. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

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    Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F; Arold, Stefan T; Monies, Dorota

    2017-11-14

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency. A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic. These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  9. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

    KAUST Repository

    Alsemari, Abdulaziz

    2017-11-14

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  10. Evolutionary Processes and Mental Deficiency

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    Spitz, Herman H.

    1973-01-01

    The author hypothesizes that central nervous system damage of deficiency associated with mental retardation affects primarily those cortical processes which developed at a late stage in man's evolutionary history. (Author)

  11. Genetics Home Reference: dopamine transporter deficiency syndrome

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    ... Twitter Home Health Conditions Dopamine transporter deficiency syndrome Dopamine transporter deficiency syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Dopamine transporter deficiency syndrome is a rare movement disorder. ...

  12. Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

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    Cintia Fridman

    1997-06-01

    Full Text Available Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.

  13. Partial biotinidase deficiency associated with Coffin-Siris syndrome.

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    Burlina, A B; Sherwood, W G; Zacchello, F

    1990-06-01

    Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.

  14. Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-α Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome.

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    Khorashad, Behzad S; Aghili, Zahra; Kreukels, Baudewijntje P C; Reid, Alistair G; Roshan, Ghasem M; Hiradfar, Mehran; Talaei, Ali; Cohen Kettenis, Peggy T

    2018-05-01

    Sixty-one patients (22 patients with congenital adrenal hyperplasia [CAH] with a mean age of 14.86 years [range, 5-23], 20 patients with 5-α reductase deficiency type 2 [5α-RD-2] with a mean age of 19.5 years [range, 5-29], and 19 patients with complete androgen insensitivity syndrome [CAIS] with a mean age of 18.26 years [range, 5-28]) were evaluated using the Kiddie Schedule for Affective Disorders and Schizophrenia, the Structured Clinical Interview for DSM-IV Axis I, Axis II, and the Global Assessment Functioning Scale. All participants were female-assigned at birth. Ten patients (16.4%) transitioned to the male gender. Overall, 68% of patients had one or more lifetime Axis I disorders, including 63.6% of the CAH participants, 90% of 5α-RD-2 participants, and 52.6% of the CAIS participants. The most commonly observed were affective disorders (27.9%), gender identity disorder (27.9%), and anxiety (16.4%). Our study demonstrates that mental health of Iranian patients with DSD is at risk. This might be due to the fact that patients with DSD conditions are mostly treated medically and their mental health is often superficially addressed in developing countries such as Iran, at least in the past. We argue that it is important to pay attention to the mental health issues of patients with DSD and focus on specific issues, which may vary cross-culturally.

  15. GLUT1 deficiency syndrome: an update.

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    Gras, D; Roze, E; Caillet, S; Méneret, A; Doummar, D; Billette de Villemeur, T; Vidailhet, M; Mochel, F

    2014-02-01

    Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes. Clinical severity varies from mild motor dysfunction to severe neurological disability. In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. In particular, the diagnosis should be considered in patients with paroxysmal exercise-induced dyskinesia or with early-onset generalized epilepsy. Low CSF level of glucose, relative to blood level, is the best biochemical clue to the diagnosis although not constantly found. Molecular analysis of the SLC2A1 gene confirms the diagnosis. Ketogenic diet is the cornerstone of the treatment and implicates a close monitoring by a multidisciplinary team including trained dieticians. Non-specific drugs may be used as add-on symptomatic treatments but their effects are often disappointing. Glucose transporter type 1 deficiency syndrome is likely under diagnosed due to its complex and pleiotropic phenotype. Proper identification of the affected patients is important for clinical practice since the disease is treatable. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  16. Pachyonychia Congenita and Mental Deficiency

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    V Ramesh

    1988-01-01

    Full Text Available Pachyonychia congenital was seen in two different families. In one family the disease was present in only one child, while in the other family the disease was traceable in 5 generations involving 36 members. One individual had associated mental retardation.

  17. Urethral adenocarcinoma in a mental deficiency patient.

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    Ramírez-Sevilla, Cristóbal; Llopis-Manzanera, Juan; Romero-Martín, José Antonio; García-Vidal, Olga

    2014-12-01

    To report the case of a urethral tumour in a patient with mental deficiency. Complete resection of the tumour was performed and the pathologic examination informed the presence of urethral adenocarcinoma. The patient is disease-free twelve months after surgery. Bibliographic review for diagnosis and treatment was performed.

  18. Eugenics, Medicine and Mental Deficiency: An Introduction.

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    Manicol, John

    1983-01-01

    The idea that social problems were caused by people who were genetically unfit, that such people were readily identified, and that they should not be permitted to reproduce was an important part of discussions about mental deficiency in the period from 1900-1940. Mention is made of the papers which follow. (IS)

  19. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

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    Choe, Chi-un; Nabuurs, Christine; Stockebrand, Malte C; Neu, Axel; Nunes, Patricia; Morellini, Fabio; Sauter, Kathrin; Schillemeit, Stefan; Hermans-Borgmeyer, Irm; Marescau, Bart; Heerschap, Arend; Isbrandt, Dirk

    2013-01-01

    Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine synthesis or distribution include mental retardation and muscular weakness. Human mutations in l-arginine:glycine amidinotransferase (AGAT), the first enzyme of Cr synthesis, lead to severely reduced Cr and guanidinoacetate (GuA) levels. Here, we report the generation and metabolic characterization of AGAT-deficient mice that are devoid of Cr and its precursor GuA. AGAT-deficient mice exhibited decreased fat deposition, attenuated gluconeogenesis, reduced cholesterol levels and enhanced glucose tolerance. Furthermore, Cr deficiency completely protected from the development of metabolic syndrome caused by diet-induced obesity. Biochemical analyses revealed the chronic Cr-dependent activation of AMP-activated protein kinase (AMPK), which stimulates catabolic pathways in metabolically relevant tissues such as the brain, skeletal muscle, adipose tissue and liver, suggesting a mechanism underlying the metabolic phenotype. In summary, our results show marked metabolic effects of Cr deficiency via the chronic activation of AMPK in a first animal model of AGAT deficiency. In addition to insights into metabolic changes in Cr deficiency syndromes, our genetic model reveals a novel mechanism as a potential treatment option for obesity and type 2 diabetes mellitus.

  20. Sneddon syndrome associated with Protein S deficiency

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    Refah Sayin

    2012-01-01

    Full Text Available Sneddon syndrome (SS is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  1. [Testosterone deficiency, metabolic syndrome and diabetes mellitus].

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    Fernández-Miró, Mercè; Chillarón, Juan J; Pedro-Botet, Juan

    2016-01-15

    Testosterone deficiency in adult age is associated with a decrease in libido, energy, hematocrit, muscle mass and bone mineral density, as well as with depression. More recently, testosterone deficiency has also been associated with various components of the metabolic syndrome, which in turn is associated with a five-fold increase in the risk of cardiovascular disease. Low testosterone levels are associated with increased insulin resistance, increase in fat mass, low HDL cholesterol, higher triglyceride levels and hypertension. Testosterone replacement therapy in patients with testosterone deficiency and type 2 diabetes mellitus and/or metabolic syndrome has shown reductions in insulin resistance, total cholesterol, LDL cholesterol and triglycerides and improvement in glycemic control and anthropometric parameters. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  2. High prevalence of SLC6A8 deficiency in X-linked mental retardation

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    Rosenberg, EH; Almeida, LS; Kleefstra, T; deGrauw, RS; Yntema, HG; Bahi, N; Moraine, C; Ropers, HH; Fryns, JP; deGrauw, TJ; Jakobs, C; Salomons, GS

    A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by

  3. CRIMINALITY AT MINORS WITH MENTAL DEFICIENCY

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    Zoran Kitkanj

    2009-06-01

    Full Text Available The aim of this paper is to present, from penological aspect, the involvement and structure of recidivism at minors with mental deficiency within the whole area of juvenile criminality in Macedonia. The research covers 62 subjects who pay the penalty in juvenile penitentiary or institutional measure directing to correctional institution for minors. Of the total number of minors who hold one of the above-mentioned sanctions, minors with lower average IQ are presented with 56.4%. The shown involvement is in penological terms (refers to minors who hold institutional measure correctional institution for minors or penalty - juvenile penitentiary which does not mean that this category of juvenile delinquents participate in such percent in the total number of reported, accused and convicted minors. According to the research results it can be concluded that falling behind in intellectual development is an indicator for delinquent behavior but in no case it can be crucial or the most important factor for criminality. Of the total number of juvenile delinquents with intellectual deficit, 80% are repeat offenders in criminal legal sense. It is of great concern that 56% of the under average juvenile delinquents defied the law for the first time before the age of 14 years that is as children.

  4. Growth hormone deficiency in 18q deletion syndrome

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    Ghidoni, P.D.; Cody, J.; Danney, J. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

    1994-09-01

    The 18q- syndrome is one of the most common chromosomal deletion syndromes. Clinical characteristics are variable but may include: hypotonia, cleft palate, mental retardation and hearing impairment. Growth failure (GF) (<3% weight/height) is present in 80% of affected individuals. We evaluated growth hormone (GH) sufficiency in 15 patients with 18q- syndrome. Of these 15 patients, 10 have growth failure (<3% weight/height); of the remaining 5, 3 had normal growth parameters and 2 had growth along the 5%. Twelve patients failed to produce adequate GH following standard stimulation testing. Of these 12 patients with inadequate GH production, 2 had normal growth (above 3%). Of the 15, only 1 has normal GH production and normal growth parameters. Bone age was obtained on 1 patient with both GH deficiency and GF, and revealed significant delays. GH levels in response to GH releasing factor were normal in 3 out of 4 patients. MRI studies of GH-deficient patients indicated normal midline structures. Myelination in the few studied GH-deficient patients appeared delayed. The gene for myelin basic protein (MBP) is known to be located on the terminal portion of the long arm of chromosome 18. Neither the gene for GH, GH releasing factor nor GH releasing factor receptor is on chromosome 18. These genes are located on chromosomes 17, chromosome 20 and chromosome 7, respectively. Findings to date suggest that GH deficiency is common in individuals with 18q- syndrome. The etiology of this finding is unknown. We postulate that a gene(s) on chromosome 18q is involved in GH expression.

  5. Smith-Magenis syndrome and growth hormone deficiency.

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    Spadoni, Emanuela; Colapietro, Patrizia; Bozzola, Mauro; Marseglia, Gian L; Repossi, Luciana; Danesino, Cesare; Larizza, Lidia; Maraschio, Paola

    2004-07-01

    Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome including physical and neurobehavioural features. The disease is commonly associated with a ca. 3.7 Mb interstitial deletion of chromosome 17p11.2, while a 1.1 Mb critical region has been identified, containing about 20 genes expressed in multiple tissues. Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11.2 region. Growth failure is a final result of several different mechanisms involving decreased growth hormone (GH) production, reduced tissue response to GH, or impaired activity of epistatic factors. To our knowledge, the association of GH deficiency with SMS has never been reported and rarely investigated, despite the very short stature of SMS patients. We describe a girl with a full SMS phenotype and a typical 3.7 Mb deletion of 17p11.2 who also has GH deficiency. After starting replacement therapy, growth has significantly improved, her stature being now above both the 10th percentile and her genetic target. we suggest that an investigation of both growth hormone secretion and function is carried out in patients with Smith-Magenis syndrome and 17p11.2 deletion. Copyright 2004 Springer-Verlag

  6. Educators' Perceptions of the American Association on Mental Deficiency

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    O'Such, Twila G.; Goldberg, I. Ignacy

    1973-01-01

    Surveyed were the views and opinions of 216 Education Division members of the American Association on Mental Deficiency (AAMD) in an attempt to discover underlying satisfactions or dissatisfactions with the AAMD. (DB)

  7. 'A disease that makes criminals': encephalitis lethargica (EL) in children, mental deficiency, and the 1927 Mental Deficiency Act.

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    Ruiz, Violeta

    2015-03-01

    Encephalitis lethargica (EL) was an epidemic that spread throughout Europe and North America during the 1920s. Although it could affect both children and adults alike, there were a strange series of chronic symptoms that exclusively affected its younger victims: behavioural disorders which could include criminal propensities. In Britain, which had passed the Mental Deficiency Act in 1913, the concept of mental deficiency was well understood when EL appeared. However, EL defied some of the basic precepts of mental deficiency to such an extent that amendments were made to the Mental Deficiency Act in 1927. I examine how clinicians approached the sequelae of EL in children during the 1920s, and how their work and the social problem that these children posed eventually led to changes in the legal definition of mental deficiency. EL serves as an example of how diseases are not only framed by the society they emerge in, but can also help to frame and change existing concepts within that same society. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency

    NARCIS (Netherlands)

    Nouioua, S.; Cheillan, D.; Zaouidi, S.; Salomons, G.S.; Amedjout, N.; Kessaci, F.; Boulandour, N.; Hamadouche, T.; Tazir, M.

    2013-01-01

    We report two sisters, aged 11 and 6. years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive

  9. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

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    Blumenschine, Michelle; Montes, Jacqueline; Rao, Ashwini K; Engelstad, Kristin; De Vivo, Darryl C

    2016-11-01

    Anticipating potential therapies for Glut 1 deficiency syndrome (Glut1DS) emphasizes the need for effective clinical outcome measures. The 6-minute walk test is a well-established outcome measure that evaluates walking ability in neurological diseases. Twenty-one children with Glut 1 deficiency syndrome and 21 controls performed the 6-minute walk test. Fatigue was determined by comparing distance walked in the first and sixth minutes. Gait was analyzed by stride length, velocity, cadence, base of support, and percentage time in double support. Independent sample t-tests examined differences between group. Repeated-measures analysis of variance evaluated gait parameters over time. Glut 1 deficiency syndrome patients walked less (P Glut 1 deficiency syndrome patients have impaired motor performance, walk more slowly, and have poor balance. The 6-minute walk test with gait analysis may serve as a useful outcome measure in clinical trials in Glut 1 deficiency syndrome. © The Author(s) 2016.

  10. Hyperthyroidism caused by acquired immune deficiency syndrome.

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    Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

    2014-01-01

    Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

  11. Drug abuse and acquired immune deficiency syndrome.

    Science.gov (United States)

    Sheu, Y

    1998-12-01

    Acquired immune deficiency syndrome (AIDS) is a modern plague. The first sign of the disease was the appearance of Pneumocystis carinii and Kaposi's sarcoma among young homosexual patients. The virus transmission is from an infected individual to a susceptible host through blood-related, sexual, and perinatal routes. Exchange of body fluid occurs when sharing syringes, drugs, and drug paraphernalia. Although the largest number of people infected with human immunodeficiency virus (HIV) is in subSaharan Africa, the most rapid growth of HIV infection during the 1990s was seen in South-East Asia. Asia showed a steep increase from 1992. Given the experiences in Thailand, India and China, a similar spread of AIDS in other parts of Asia is possible. The risk behaviors that enable the spread of HIV are present in all Pacific Asian countries. Risk behaviors are considered to be the injection of illicit drugs, male patronage of prostitutes, high rates of sexually transmitted diseases, and low condom use.

  12. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    J.A. Avina Fierro

    2015-06-09

    Jun 9, 2015 ... Abstract We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anoma- lies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed.

  13. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial ... The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities ...

  14. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

    Directory of Open Access Journals (Sweden)

    Hoffmann Georg F

    2006-04-01

    Full Text Available Abstract Mevalonic aciduria (MVA and hyperimmunoglobulinemia D syndrome (HIDS represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK, the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD and, in most patients of immunoglobulin A (IgA, in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS.

  15. HANDBOOK OF MENTAL DEFICIENCY, PSYCHOLOGICAL THEORY AND RESEARCH. MCGRAW-HILL SERIES IN PSYCHOLOGY.

    Science.gov (United States)

    ELLIS, NORMAN R.

    THE CONTRIBUTIONS OF 21 AUTHORS IN THIS VOLUME ARE DEVOTED TO ASSESSING THE STATUS OF RESEARCH AND THEORY IN MENTAL DEFICIENCY, FOCUSING ATTENTION ON THE BEHAVIOR OF THE MENTALLY HANDICAPPED. PART ONE IS CONCERNED WITH RESEARCH FINDINGS AND THEORIES TO EXPLAIN MENTAL DEFICIENCY. COMPREHENSIVE PSYCHOLOGICAL THEORIES REPRESENTED INCLUDE FIELD…

  16. Tuberculosis and the acquired immune deficiency syndrome in South Brazil

    International Nuclear Information System (INIS)

    Vieira, M.V.; Genro, C.H.; Santos Silveira, R. de C. dos

    1989-01-01

    Tuberculosis and the acquired immune deficiency syndrome in South Brazil. The authors studied the incidence of tuberculosis in South Brazilian patients with acquired immune deficiency syndrome from January 1985 to June 1988. During this period, tuberculosis occurred in 10.3% of acquired immune deficiency syndrome patients. The socioeconomic conditions and the incidence of disease in the population were not confirmed as a potential risk for tuberculosis infection. Chest radiographs revealed pulmonary infiltrates in six patients, hilar and/or mediastinal adenopathy in three, and pleural effusion in two. The two remaining patients had pulmonary consolidation associated with other features. None of these patients presented pulmonary cavitation or radiographic findings of typical reactivation of pulmonary tuberculosis. (author) [pt

  17. STUDY ABOUT THE INCIDENCE OF HEARING-SPEAKING DISORDERS IN A POPULATION WITH MENTAL DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Ioana Mihaela Tomulescu

    2003-01-01

    Full Text Available This study is about the incidence of hearing-speaking disorders in a population with mental deficiency. We studied 596 children interned in Neurology and Psychiatry Clinical Hospital of Oradea during the 1999 - 2001 period. In 596 children, 393 presented different types of mental deficiency. The most frequent disorders observed are hearing loss or deafness, deaf-mutism, mutism and speaking retardation. Also, we related an increased frequency in rural area and in group of children with severe mental deficiency.

  18. West syndrome due to vitamin B12 deficiency.

    Science.gov (United States)

    Serin, Hepsen Mine; Kara, Aslıhan Oruçoğlu; Oğuz, Baran

    2015-12-01

    Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.

  19. An unusual ocular presentation of acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Arunachalam Cynthia

    2008-01-01

    Full Text Available A 50-year-old male who presented with bilateral keratomalacia and on subsequent evaluation was found to be human immunodeficiency virus (HIV positive is being reported. A MEDLINE search of the literature did not reveal any report of keratomalacia as the initial presenting feature of HIV/ acquired immune deficiency syndrome.

  20. Milder phenotypes of glucose transporter type 1 deficiency syndrome

    NARCIS (Netherlands)

    Anand, G.; Padeniya, A.; Hanrahan, D.; Scheffer, H.; Zaiwalla, Z.; Cox, D.; Mann, N.; Hewertson, J.; Price, S.; Nemeth, A.; Arsov, T.; Scheffer, I.; Jayawant, S.; Pike, M.; McShane, T.

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset

  1. Growth hormone receptor deficiency (Laron syndrome) in black ...

    African Journals Online (AJOL)

    Non-Caucasians with growth honnone receptor (GHR) deficiency/Lamn syndrome among the approximately 180 recognised cases are rare, and include a Japanese and 3 African Americans. Black African siblings, a brother and a sister seen initially at 11 years 9 months and 5 years 6 months of age respectively were -7,4 ...

  2. Growth hormone deficiency in a Nigerian child with Turner's syndrome

    African Journals Online (AJOL)

    IRORO YARHERE

    Growth hormone deficiency in a Nigerian child with Turner's syndrome: a case report and review of growth assessment in .... when the sex hormonal influence is absent. The good thing about our ... was due to lack of oestradiol influence in amplifying the neuroendocrine regulation of pulsatile GH release, but our patient's ...

  3. Heiner syndrome mimicking an immune deficiency.

    Science.gov (United States)

    Sigua, Jerome A; Zacharisen, Michael

    2013-10-01

    Heiner syndrome is a rare but reversible non-IgE mediated hypersensitivity to cow's milk resulting in an atypical pulmonary disease in infants and young children. There isoften a delay in diagnosis in this disorder due to its unusual presentation with heterogeneous manifestations. Such infants usually have chronic or recurrent upper or lower respiratory tract symptoms, suggestive of recurring infections such as otitis media or pneumonia. The patchy infiltrates on chest x-ray are commonly mistaken for pneumonia, yet are refractory to antibiotictreatment. Systemic features such as fever, vomiting, diarrhea, and failure to thrive further contribute to the difficulty in making a prompt diagnosis. Only a few case reports have been published. We report a case of this unique milk-induced pulmonary syndrome in a hospitalized 12-month-old child, which illustrates the importance of considering this diagnosis in any child with unexplained lung infiltrates.

  4. Children with Usher syndrome: mental and behavioral disorders

    Directory of Open Access Journals (Sweden)

    Dammeyer Jesper

    2012-03-01

    Full Text Available Abstract Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder. Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

  5. Testosterone deficiency syndrome: cellular and molecular mechanism of action.

    Science.gov (United States)

    Carruthers, Malcolm

    2013-02-01

    There is virtually no correlation between what are generally accepted to be the symptoms of deficient androgen in men and levels of androgens as measured in the laboratory. Now that androgen deficiency is being shown to play a part in conditions as diverse as metabolic syndrome, diabetes, and coronary heart disease, a hypothesis is needed to explain this apparent discrepancy between measured androgen levels and our understanding of the symptoms of androgen deficiency. When the possible mechanisms for androgen actions are considered, one explanation emerges that androgen may act much like insulin in persons with type 2 diabetes mellitus: the degree of androgen resistance may be variable depending on the organs or systems considered. Therefore, the symptoms can result from altered or damaged synthesis of androgen synthesis or regulation, elevated androgen binding, a reduction in tissue response, or decreased as a result of polymorphism and aging. Genomic transcription and translation may also be affected. As with diabetes, in adult male androgen deficiency, it is suggested that the definition of androgen deficiency should be based on individual physiology, with the requirements of the individual at a particular stage of life setting the baseline against which any deficiency of androgens or androgen metabolites, either absolute or relative, is determined. This approach will affect the terminology, etiology, diagnosis, and treatment of androgen deficiency.

  6. A Brief History of the International Association for the Scientific Study of Mental Deficiency (IASSMD).

    Science.gov (United States)

    Clarke, A. D. B.

    1991-01-01

    This paper reviews the history of the International Association for the Scientific Study of Mental Deficiency from the first international conference on the study of mental deficiency in 1960, the birth of the organization in 1964, international congresses of the organization every three or four years since, and official recognition by the World…

  7. Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.

    Science.gov (United States)

    Joost, K; Tammur, P; Teek, R; Zilina, O; Peters, M; Kreile, M; Lace, B; Zordania, R; Talvik, I; Ounap, K

    2011-09-01

    Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation (MR) rarely occurs. The haploinsufficiency of deleted genes that escape X-inactivation may explain the occurrence of MR and autism. Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder and is inherited in an X-linked semi-dominant trait, and the OTC gene maps to Xp21. Methods: We report on a girl with MR, epilepsy and biochemical changes characteristic of OTC deficiency but no identifiable point mutation in the OTC gene. Standard G-banding cytogenetic analysis, whole genome karyotyping, and X-inactivation studies were performed to determine the genetic etiology of the OTC deficiency in the patient. Results: Cytogenetic analysis and molecular karyotyping using SNP array revealed a deletion of the whole short arm of the X chromosome (Xp22.33-p11.1). Inactivation studies also revealed a completely skewed X-inactivation. Conclusion: Our patient presented with MR, epilepsy, and some evidence of reduced OTC activity, but performed genetic studies gave no explanation for this phenotype. We hope that this case report contributes to the understanding of the underlying genetic factors of the manifestation of X-linked disorders in female patients.

  8. Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2011-05-01

    GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.

  9. Growth hormone receptor deficiency (Laron syndrome) in black ...

    African Journals Online (AJOL)

    Non-Caucasians with growth honnone receptor (GHR) deficiency/Lamn syndrome among the .... 4,3 cm (-2,4 SOS for bone age 8,5 years at age 12); the girl's height at age 7 years was 77,5 cm (-8,0 SOS, height ... of serum incubated with '25I-labelled human growth hormone and expressed as relative specific binding ...

  10. Long-term clinical course of Glut1 deficiency syndrome.

    Science.gov (United States)

    Alter, Aliza S; Engelstad, Kristin; Hinton, Veronica J; Montes, Jacqueline; Pearson, Toni S; Akman, Cigdem I; De Vivo, Darryl C

    2015-02-01

    Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores, neuropsychological tests, and adaptive behavior reports, were collected for 13 participants with Glut1 deficiency syndrome who had been followed for an average of 14.2 (range = 8.9-23.6) years. A parent questionnaire assessed manifestations throughout development. The 6-Minute Walk Test captured gait disturbances and triggered paroxysmal exertional dyskinesia. All longitudinal outcomes remained stable over time. Epilepsy dominated infancy and improved during childhood. Dystonia emerged during childhood or adolescence. Earlier introduction of the ketogenic diet correlated with better long-term outcomes on some measures. Percent-predicted 6-Minute Walk Test distance correlated significantly with Columbia Neurological Scores. We conclude that Glut1 deficiency syndrome is a chronic condition, dominated by epilepsy in infancy and by movement disorders thereafter. Dietary treatment in the first postnatal months may effect improved outcomes, emphasizing the importance of early diagnosis and treatment. © The Author(s) 2014.

  11. [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome].

    Science.gov (United States)

    Ramm-Pettersen, Anette; Selmer, Kaja Kristine; Nakken, Karl O

    2011-05-06

    Glucose is the brain's main source of energy. To pass the blood-brain barrier, glucose transporter protein type 1 (GLUT-1) is essential. Mutations in the SLC2A1 gene which codes for GLUT-1 may therefore compromise the supply of glucose to the brain. The aim of this review is to describe the clinical consequences of such mutations, with special emphasis on GLUT-1 encephalopathy. This review is based on a non-systematic literature search in PubMed and the authors' experience within the field. Epileptic or epilepsy-like are usually the first symptom in children with the GLUT-1 deficiency syndrome. Later on these children suffer delayed psychomotor development, microcephaly, ataxia, spasticity or movement disorders. EEG abnormalities may develop. GLUT-1 deficiency syndrome should be suspected in children with epilepsy-like seizures and delayed development combined with a low content of glucose in spinal fluid. The diagnosis is confirmed by genetic testing. Treatment is a ketogenic diet, as ketone bodies pass the blood-brain barrier using other transport proteins than GLUT-1. GLUT-1-deficiency syndrome is a rare metabolic encephalopathy which is not well known and probably underdiagnosed. An early diagnosis and early start of a ketogenic diet may give these children a normal or nearly normal life.

  12. [Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome].

    Science.gov (United States)

    Barraud, C; Cano, A; Boulay, C; Milh, M; Bollini, G; Chabrol, B

    2015-04-01

    Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  13. [Advances on the study of iron deficiency and mental development in children].

    Science.gov (United States)

    Guo, Hongxia; Zeng, Guo; Zhang, Qian

    2012-01-01

    Childhood is a critical period for mental development. Iron deficiency will affect the development of nerve system and depress the learning ability, memory and cognitive function of children. There are a large number of literatures focusing on the mechanism of iron deficiency on mental retardation and the effect of iron reinforcement on iron deficient children in recent years. More attention has been paid to the prevention of iron deficiency. It has been proposed that the prevention of iron deficiency during early life of infants is more important than the reinforcement of iron in childhood. Exploring the relationship between iron deficiency and mental development is very important to improve the intelligence of children and the quality of whole population.

  14. [The Relationship Study between Expressions of P2X5 Receptor and Deficiency-cold Syndrome/Deficiency-heat Syndrome at Various Ambient Temperatures].

    Science.gov (United States)

    Yang, Li-ping; Yu, Hong-jie; Huang, Rui; Li, Xin-min; Zhan, Xiang-hong; Hou, Jun-lin

    2015-05-01

    To detect the expression of the peripheral blood P2X5 receptor at various ambient temperatures, and to explore its relationship with deficiency-cold syndrome and deficiency-heat syndrome. Subjects were selected by questionnaire and expert diagnosis, and assigned to the normal control group, the deficiency-cold syndrome group, and the deficiency-heat syndrome group, 20 in each group. 5 mL venous blood was collected at room temperature (25 °C) and cold temperature (-4-5 °C) respectively. Then the expression of P2X5 receptor was relatively quantified by real-time fluorescence quantitative PCR, and compared at room temperature and cold temperature respectively. The expression of P2X5 receptor in deficiency-cold syndrome and deficiency-heat syndrome groups was lower than that in the normal control group at room temperature (P cold temperature in the deficiency-cold syndrome group than in the normal control group (P receptor showed no difference in all groups at two different temperatures (P > 0.05). The expression of P2X5 receptor was different in different syndrome groups at various ambient temperatures. Ambient temperatures had insignificant effect on the expression of P2X5 receptor of the population with the same syndrome.

  15. Diagnostic criteria for constitutional mismatch repair deficiency syndrome

    DEFF Research Database (Denmark)

    Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A

    2014-01-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain...... and intestinal tract tumours. Patients show a variety of non-malignant features that are indicative of CMMRD. However, currently no criteria that should entail diagnostic evaluation of CMMRD exist. We present a three-point scoring system for the suspected diagnosis CMMRD in a paediatric/young adult cancer....... They include multiple hyperpigmented and hypopigmented skin areas, brain malformations, pilomatricomas, a second childhood malignancy, a Lynch syndrome (LS)-associated tumour in a relative and parental consanguinity. According to the scoring system, CMMRD should be suspected in any cancer patient who reaches...

  16. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  17. Identification of a novel mutation in an Indian patient with CAII deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Shivaprasad C

    2010-01-01

    Full Text Available Carbonic anhydrase II (CAII deficiency syndrome characterized by osteopetrosis (OP, renal tubular acidosis (RTA, and cerebral calcifications is caused by mutations in the carbonic anhydrase 2 (CA2 gene. Severity of this disorder varies depending on the nature of the mutation and its effect on the protein. We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation. A novel homozygous deletion mutation c.251delT was seen in the patient resulting in a frameshift and a premature stop codon at amino acid position 90 generating a truncated protein leading to a complete loss of function and a consequential deficiency of the enzyme making this a pathogenic mutation. Confirmation of clinical diagnosis by molecular methods is essential as the clinical features of the CAII deficiency syndrome are similar to other forms of OP but the treatment modalities are different. Genetic confirmation of the diagnosis at an early age leads to the timely institution of therapy improving the growth potential, reduces other complications like fractures, and aids in providing prenatal testing and genetic counseling to the parents planning a pregnancy.

  18. Learning and practice in the constitution of sexuality of the mentally deficient person

    Directory of Open Access Journals (Sweden)

    Myrna Wolf Brachmann dos Santos

    2010-06-01

    Full Text Available Taking as a starting point the analysis of ten research reports, and founded on the studies of Michel Foucault, this text aims at making evident the existing relationship between the producing of learning and daily practices that are established in society. It is part of a dissertation that analyzed academic productions, the theme of which is sexuality in the mentally deficient person, relating them to the project of sexual orientation developed with mentally deficient young people. In this association it is possible to identify conceptions of sexuality and mental deficiency presented from the point of view of biology and conditioned by the proposition of sexual orientation taken as an “antidote” for the problem of the manifestations of sexuality in the subjects studied. This leads to the necessity of attention and reflection on perspectives and the new practices which produce other truths about sexuality and about the sexuality of the mentally deficient person.

  19. Myelography in patients with acquired immuno deficiency syndrome

    International Nuclear Information System (INIS)

    Borgstein, B.J.; Koster, P.A.; Peeters, F.L.M.; Portegies, P.

    1989-01-01

    Neurological complications in patients with Acquired Immuno Deficiency Syndrome (AIDS) are frequent and in addition to central nervous system syndromes, involvement of the peripheral nervous system is increasingly seen. We evaluated the indications and results of myelographic examination in six AIDS-patients with signs of peripheral nervous system disease, out of 200 AIDS-patients with neurological complications. Five of these patients had a polyradiculopathy, with proven cytomegalovirus (CMV) infection in four cases. There were two abnormal myelographic examinations with findings of cauda equina nerve root involvement, both in patients with proven CMV-polyradiculopathy. These abnormal findings had no direct therapeutic consequences. Myelography is not essential for establishing the diagnosis, which is based on cerebrospinal fluid (CSF) analysis, but may be indicated to exclude a spinal cord or nerve root compressive lesion. (orig.)

  20. Mental Health Problems in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Elison, Sarah; Howlin, Patricia

    2010-01-01

    Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…

  1. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

    Directory of Open Access Journals (Sweden)

    Akarsu Nurten

    2010-05-01

    Full Text Available Abstract Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2 and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44. Results This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is GLUT1 gene (SLC2A1. However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively. Conclusion Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s lying in 1q44 proximal to the SMYD3 gene.

  2. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.

    Science.gov (United States)

    Nevin, N C; Thomas, P S; Hutchinson, J

    1986-05-01

    We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.

  3. Possible association between vitamin D deficiency and restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Oran M

    2014-05-01

    Full Text Available Mustafa Oran,1 Cuneyt Unsal,2 Yakup Albayrak,2 Feti Tulubas,3 Keriman Oguz,4 Okan Avci,1 Nilda Turgut,4 Recep Alp,4 Ahmet Gurel3 1Department of Internal Medicine, 2Department of Psychiatry, 3Department of Biochemistry, 4Department of Neurology, Namik Kemal University, Faculty of Medicine, Tekirdağ, Turkey Background and aim: Restless legs syndrome (RLS is a distressing sleep disorder that occurs worldwide. Although there have been recent developments in understanding the pathophysiology of RLS, the exact mechanism of the disease has not been well elucidated. An increased prevalence of neurologic and psychiatric diseases involving dopaminergic dysfunction in vitamin D-deficient patients led us to hypothesize that vitamin D deficiency might result in dopaminergic dysfunction and consequently, the development of RLS (in which dopaminergic dysfunction plays a pivotal role. Thus, the aim of this study was to evaluate the relationship between vitamin D deficiency and RLS. Methods: One hundred and fifty-five consecutive patients, 18–65 years of age, who were admitted to the Department of Internal Medicine with musculoskeletal symptoms and who subsequently underwent neurological and electromyography (EMG examination by the same senior neurologist, were included in this study. The patients were divided into two groups according to serum 25-hydroxyvitamin D (25(OHD (a vitamin D metabolite used as a measure of vitamin D status level: 36 patients with serum 25(OHD levels ≥20 ng/mL comprised the normal vitamin D group, and 119 patients with serum 25(OHD levels <20 ng/mL comprised the vitamin D deficiency group. The two groups were compared for the presence of RLS and associated factors. Results: The two groups were similar in terms of mean age, sex, mean body mass index (BMI, and serum levels of calcium, phosphate, alkaline phosphatase (ALP, and ferritin. The presence of RLS was significantly higher in the vitamin D deficiency group (χ2=12.87, P<0

  4. Glucose-6-Phosphate Dehydrogenase Deficiency and Physical and Mental Health until Adolescence.

    Science.gov (United States)

    Kwok, Man Ki; Leung, Gabriel M; Schooling, C Mary

    2016-01-01

    To examine the association of glucose-6-phosphate dehydrogenase (G6PD) deficiency with adolescent physical and mental health, as effects of G6PD deficiency on health are rarely reported. In a population-representative Chinese birth cohort: "Children of 1997" (n = 8,327), we estimated the adjusted associations of G6PD deficiency with growth using generalized estimating equations, with pubertal onset using interval censored regression, with hospitalization using Cox proportional hazards regression and with size, blood pressure, pubertal maturation and mental health using linear regression with multiple imputation and inverse probability weighting. Among 5,520 screened adolescents (66% follow-up), 4.8% boys and 0.5% girls had G6PD deficiency. G6PD-deficiency was not associated with birth weight-for-gestational age or length/height gain into adolescence, but was associated with lower childhood body mass index (BMI) gain (-0.38 z-score, 95% confidence interval (CI) -0.57, -0.20), adjusted for sex and parental education, and later onset of pubic hair development (time ratio = 1.029, 95% CI 1.007, 1.050). G6PD deficiency was not associated with blood pressure, height, BMI or mental health in adolescence, nor with serious infectious morbidity until adolescence. G6PD deficient adolescents had broadly similar physical and mental health indicators, but transiently lower BMI gain and later pubic hair development, whose long-term implications warrant investigation.

  5. Glucose-6-Phosphate Dehydrogenase Deficiency and Physical and Mental Health until Adolescence.

    Directory of Open Access Journals (Sweden)

    Man Ki Kwok

    Full Text Available To examine the association of glucose-6-phosphate dehydrogenase (G6PD deficiency with adolescent physical and mental health, as effects of G6PD deficiency on health are rarely reported.In a population-representative Chinese birth cohort: "Children of 1997" (n = 8,327, we estimated the adjusted associations of G6PD deficiency with growth using generalized estimating equations, with pubertal onset using interval censored regression, with hospitalization using Cox proportional hazards regression and with size, blood pressure, pubertal maturation and mental health using linear regression with multiple imputation and inverse probability weighting.Among 5,520 screened adolescents (66% follow-up, 4.8% boys and 0.5% girls had G6PD deficiency. G6PD-deficiency was not associated with birth weight-for-gestational age or length/height gain into adolescence, but was associated with lower childhood body mass index (BMI gain (-0.38 z-score, 95% confidence interval (CI -0.57, -0.20, adjusted for sex and parental education, and later onset of pubic hair development (time ratio = 1.029, 95% CI 1.007, 1.050. G6PD deficiency was not associated with blood pressure, height, BMI or mental health in adolescence, nor with serious infectious morbidity until adolescence.G6PD deficient adolescents had broadly similar physical and mental health indicators, but transiently lower BMI gain and later pubic hair development, whose long-term implications warrant investigation.

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

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

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

  7. A syndrome of acute zinc deficiency during total parenteral alimentation in man.

    Science.gov (United States)

    Kay, R G; Tasman-Jones, C; Pybus, J; Whiting, R; Black, H

    1976-01-01

    Changes in the plasma and urine levels of the trace metal zinc have been followed in a series of 37 adult patients totally supported by intravenous alimentation. Copper has also been determined in more recent cases. In such a seriously ill group, although urinary zinc loss may be very high at the height of catabolism, severe plasma depletion does not occur unless there is a subsequent phase of sustained anabolism and weight gain. In four patients plasma zinc fell to very low levels during this phase and three of this group developed a syndrome characterized by diarrhea, mental depression, para-nasal, oral and peri-oral dermatitis, and alopecia. The response to oral or intravenous zinc therapy is striking, except for hair regrowth which is delayed but eventually complete. The syndrome we have recognized in adult man has not been previously described. It resembles however the parakeratosis of zinc deficient swine and it is also very similar to Acrodermatitis enteropathica, a genetically determined disorder of infants very recently linked to zinc deficiency. Zinc is clearly essential to human metabolism and it should be included in all parenteral alimentation regimes particularly during the period of rapid, sustained, weight gain. Images Fig. 1. Fig. 2. Fig. 3. Fig. 6. Fig. 7. Fig. 9. Fig. 10. PMID:817677

  8. Gitelman syndrome combined with complete growth hormone deficiency

    Directory of Open Access Journals (Sweden)

    Se Ra Min

    2013-03-01

    Full Text Available Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters, member 3 (SLC12A3 gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation. The incidence of growth retardation, the exact cause of which is unknown, is lower than that of Bartter syndrome. Herein, we discuss the case of an overweight 12.9-year-old girl of short stature presenting with hypokalemic metabolic alkalosis. The patient, on the basis of detection of a heterozygous mutation in the SLC12A3 gene and poor growth hormone (GH responses in two provocative tests, was diagnosed with Gitelman syndrome combined with complete GH deficiency. GH treatment accompanied by magnesium oxide and potassium replacement was associated with a good clinical response.

  9. Glutathione system in Wolfram syndrome 1‑deficient mice.

    Science.gov (United States)

    Porosk, Rando; Kilk, Kalle; Mahlapuu, Riina; Terasmaa, Anton; Soomets, Ursel

    2017-11-01

    Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. The pathophysiology of WS is ER stress, which is generally considered to induce oxidative stress. As WS has a well‑defined monogenetic origin and a model for chronic ER stress, the present study aimed to characterize how glutathione (GSH), a major intracellular antioxidant, was related to the disease and its progression. The concentration of GSH and the activities of reduction/oxidation system enzymes GSH peroxidase and GSH reductase were measured in Wfs1‑deficient mice. The GSH content was lower in most of the studied tissues, and the activities of antioxidative enzymes varied between the heart, kidneys and liver tissues. The results indicated that GSH may be needed for ER stress control; however, chronic ER stress from the genetic syndrome eventually depletes the cellular GSH pool and leads to increased oxidative stress.

  10. NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.

    Science.gov (United States)

    Lam, Ching-Wan; Law, Chun-Yiu; Leung, Ka-Fei; Lai, Chi-Kong; Pak-lam Chen, Sammy; Chan, Bosco; Chan, Kwok-Yin; Yuen, Yuet-ping; Mak, Chloe Miu; Yan-wo Chan, Albert

    2015-02-02

    Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. To-date, about 30 genetically confirmed cases had been reported. The clinical phenotypes of this condition are variable; some patients were asymptomatic while some may present with developmental delay or autistic features. In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation. Using NMR-based urinalysis, this condition can be rapidly diagnosed within 15 min. An 11-month-old Chinese boy had dual molecular diagnoses, β-ureidopropionase deficiency and Dravet syndrome. He presented with intractable and recurrent convulsions, global developmental delay and microcephaly. Urine organic acid analysis using GC-MS and NMR-based urinalysis showed excessive amount of β-ureidopropionic acid and β-ureidoisobutyric acid, the two disease-specific markers for β-ureidopropionase deficiency. Genetic analysis confirmed homozygous known disease-causing mutation UPB1 NM_016327.2: c.977G>A; NP_057411.1:p.R326Q. In addition, genetic analysis for Dravet syndrome showed the presence of heterozygous disease-causing mutation SCN1A NM_001165963.1:c.4494delC; NP_001159435.1:p.F1499Lfs*2. The differentiation between Dravet syndrome and β-ureidopropionase deficiency is clinically challenging since both conditions share overlapping clinical features. The detection of urine β-ureidoisobutyric and β-ureidopropionic acids using NMR or GC-MS is helpful in laboratory diagnosis of β-ureidopropionase deficiency. The disease-causing mutation, c.977G>A of β-ureidopropionase deficiency, is highly prevalent in Chinese population (allele frequency=1.7%); β-ureidopropionase deficiency screening test should be performed for any patients with unexplained neurological deficit, developmental delay or autism. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Educação sexual de pessoas com deficiência mental

    Directory of Open Access Journals (Sweden)

    Tania Mara Zancanaro Pieczkowski

    2011-11-01

    Full Text Available Constata-se que falar em sexualidade de pessoas com deficiência mental é um tabu. Manifestações de ansiedade referentes ao assunto são presenciadas no cotidiano. Considera-se importante favorecer a compreensão de que a sexualidade é parte integrante da vida, o que não justifica a inquietação para abordar essa temática, pois é um atributo humano. Percebe-se que a abordagem do referido tema prioriza aspectos anatômicos e se mostra fragmentada, imbricada à culpa e ao medo. É importante conscientizar a sociedade, principalmente as famílias de pessoas com deficiência mental e profissionais que atuam com esse grupo, que pessoas com deficiência mental não são assexuadas, tampouco têm sua sexualidade incontrolável. Também é imprescindível instrumentalizar os profissionais e familiares para tomar atitudes coerentes ao se depararem com manifestações de sexualidade do aluno/filho com deficiência mental.Palavras-chave: Sexualidade. Deficiência Mental. Direitos Humanos. Educação. Orientação.

  12. Hypoxanthine-guanine phosophoribosyltransferase (HPRT deficiency: Lesch-Nyhan syndrome

    Directory of Open Access Journals (Sweden)

    Puig Juan G

    2007-12-01

    Full Text Available Abstract Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent. Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic. Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay, and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The

  13. Helicobacter pylori infection in patients with acquired immune deficiency syndrome.

    Science.gov (United States)

    Battan, R; Raviglione, M C; Palagiano, A; Boyle, J F; Sabatini, M T; Sayad, K; Ottaviano, L J

    1990-12-01

    A controlled study was conducted on patients with human immunodeficiency virus (HIV) infection referred for upper endoscopy to evaluate the prevalence of Helicobacter pylori (H. pylori) infection. Four different stains and culture for H. pylori were performed on biopsy specimens from the gastric antrum. Sixteen (40%) of 40 patients with acquired immune deficiency syndrome (AIDS) or AIDS-related complex (ARC) were diagnosed to be infected with H. pylori versus 14 (39%) of 36 age-matched control patients. Eight of 15 AIDS/ARC patients without AIDS-related esophagogastroduodenal findings (53%) were infected with H. pylori versus 8/25 (32%) with endoscopic findings typical of AIDS. No invasion of the lamina propria by H. pylori was noted in any patient. Active chronic gastritis was present in 60% of AIDS/ARC patients and 61% of controls. Fifty-eight and 59%, respectively, of active chronic gastritis cases were infected with H. pylori. All the H. pylori infections, except one, were found in patients with chronic gastritis. In AIDS/ARC patients, H. pylori infection and active chronic gastritis are as common as in other patients referred for upper endoscopy. They may play a pathogenic role, especially when endoscopic AIDS-related findings are lacking. Cell-mediated immune deficiency does not appear to increase the risk of infection with H. pylori.

  14. Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

    Science.gov (United States)

    Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

    2017-06-01

    In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

  15. Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

    OpenAIRE

    Fridman, Cintia; Kok, Fernando; Diament, Aron; Koiffmann, Célia P.

    1997-01-01

    Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.The authors describe the case of a typical Angelman syndrome patient. The proband...

  16. Iron deficiency, cognition, mental health and fatigue in women of childbearing age: a systematic review.

    Science.gov (United States)

    Greig, Alecia J; Patterson, Amanda J; Collins, Clare E; Chalmers, Kerry A

    2013-01-01

    It is known that Fe deficiency has a negative impact on cognitive function in children by altering brain energy metabolism and neurotransmitter function. It is unclear whether Fe deficiency has detrimental effects on cognition, mental health and fatigue in women of childbearing age. Our aim was to systematically review the literature to determine whether Fe deficiency in women of childbearing age affects cognition, mental health and fatigue, and whether a change in Fe status results in improvements in cognition, mental health and fatigue. Studies using Fe supplement interventions were reviewed to examine the effect of Fe deficiency in women of childbearing age (13-45 years) on their cognition, mental health and fatigue. English-language articles ranging from the earliest record to the year 2011 were sourced. The quality of retrieved articles was assessed and the Fe pathology, cognitive, mental health and fatigue data were extracted. Means and standard deviations from cognitive test data were included in meta-analyses of combined effects. Of the 1348 studies identified, ten were included in the review. Three studies showed poorer cognition and mental health scores and increased fatigue with Fe deficiency at baseline. Seven studies reported an improvement in cognitive test scores after Fe treatment. Results of three of these studies were included in meta-analyses of the effect of Fe supplement intervention on cognition. The results of the meta-analyses showed a significant improvement in Arithmetic scores after treatment (P < 0·01), but no effect on Digit Symbol, Digit Span or Block Design. While an improvement in cognition after Fe treatment was seen in seven out of ten studies, the evidence base is limited by poor study quality and heterogeneity across studies. Additional high-quality studies using consistent measures are warranted.

  17. Dopamine and glucose, obesity and Reward Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Kenneth eBlum

    2014-09-01

    Full Text Available Obesity and many well described eating disorders are accurately considered a global epidemic. The consequences of Reward Deficiency Syndrome, a genetic and epigenetic phenomena that involves the interactions of powerful neurotransmitters, are impairments of brain reward circuitry, hypodopaminergic function and abnormal craving behavior. Numerous sound neurochemical and genetic studies provide strong evidence that food addiction is similar to psychoactive drug addiction. Important facts which could translate to potential therapeutic targets espoused in this review include: 1 brain dopamine (DA production and use is stimulated by consumption of alcohol in large quantities or carbohydrates bingeing; 2 in the mesolimbic system the enkephalinergic neurons are in close proximity, to glucose receptors; 3 highly concentrated glucose activates the calcium channel to stimulate dopamine release from P12 cells; 4 blood glucose and cerebrospinal fluid concentrations of homovanillic acid, the dopamine metabolite, are significantly correlated and 5 2-deoxyglucose the glucose analogue, in pharmacological doses associates with enhanced dopamine turnover and causes acute glucoprivation. Evidence from animal studies and human fMRI support the hypothesis that multiple, but similar brain circuits are disrupted in obesity and drug dependence and DA-modulated reward circuits are involved in pathologic eating behaviors. Treatment for addiction to glucose and drugs alike, based on a consensus of neuroscience research, should incorporate dopamine agonist therapy, in contrast to current theories and practices that use dopamine antagonists. Until now, powerful dopamine-D2 agonists have failed clinically, due to chronic down regulation of D2 receptors instead, consideration of novel less powerful D2 agonists that up-regulate D2 receptors seems prudent. We encourage new strategies targeted at improving DA function in the treatment and prevention of obesity a subtype of

  18. C syndrome with skeletal anomalies, mental retardation, eyelid ...

    African Journals Online (AJOL)

    C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child. ... broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect.

  19. Examining Reports of Mental Health in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Tomlinson, Katie; Estes, Zachary

    2012-01-01

    Prior research suggests that individuals with Williams syndrome (WS) have a disposition towards anxiety. Information regarding this is typically derived from parents and carers. The perspectives of the individuals with WS are rarely included in research of this nature. We examined the mental health of 19 adults with WS using explicit (psychiatric…

  20. An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly

    International Nuclear Information System (INIS)

    Khaldi, F.; Bennaceur, B.; Hammou, A.; Hamza, M.; Gharbi, H.A.

    1988-01-01

    Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: Retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations are found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission. (orig.)

  1. Contesting Certification: Mental Deficiency, Families and the State in Interwar England

    Science.gov (United States)

    Myers, Kevin

    2011-01-01

    This article is an attempt to shed some further light on the people and the processes involved in the identification of mental deficiency in children and young people. In order to do this, it turns away from the themes that have been most prominent in the historiography to date: elite and professional ideas, parliamentary and public debates and…

  2. A survey on relative frequency of metabolic syndrome and testosterone deficiency in men with erectile dysfunction.

    Science.gov (United States)

    Hamidi Madani, Ali; Heidarzadeh, Abtin; Akbari Parsa, Niloofar; Khosravi Darestani, Fatemeh; Hamidi Madani, Zahra

    2012-06-01

    Erectile dysfunction (ED) is a common male sexual dysfunction and affects the individual's physical and psychological well-being. It has been classified as organic and psychogenic. Men with low testosterone levels have an increased risk of ED. On the other hand, direct detrimental effect of metabolic syndrome on the endothelium, smooth muscle and nerves of the vascular system of the penis is what causes ED to develop in men with metabolic syndrome. Therefore, it is supposed that a large number of men with erectile dysfunction are patients who have ED, metabolic syndrome and testosterone deficiency as a triad. The aim of this study is determining relative frequencies of metabolic syndrome and testosterone deficiency in a group of men with ED. Men suffering from ED who were referred to a certain private urology clinic between 22.11.2009 and 22.9.2010 were evaluated for metabolic syndrome criteria; their morning free testosterone levels were measured, and then the related questionnaires were filled out. Of 241 men with ED, the relative frequency of metabolic syndrome was 41.5%, of testosterone deficiency was 36.5% and of metabolic syndrome in combination with testosterone deficiency was 19.5%. The relative frequencies of metabolic syndrome and testosterone deficiency in men with ED seem to be significant, and it is the time that we should evaluate ED not as a disease but as a presentation of multiple underlying pathologies which needs medical attention to general health.

  3. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

    NARCIS (Netherlands)

    Ogier, H.; Lombes, A.; Scholte, H. R.; Poll-The, B. T.; Fardeau, M.; Alcardi, J.; Vignes, B.; Niaudet, P.; Saudubray, J. M.

    1988-01-01

    We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values

  4. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

    NARCIS (Netherlands)

    Hove, J.L. van; Steyaert, J.; Matthijs, G.; Legius, E.; Theys, P.; Wevers, R.A.; Romstad, A.; Moller, L.B.; Hedrich, K.; Goriounov, D.; Blau, N.; Klein, C.; Casaer, P.

    2006-01-01

    BACKGROUND: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. OBJECTIVE: To delineate the neurological and psychiatric

  5. Complications of bariatric surgery: dumping syndrome, reflux and vitamin deficiencies.

    Science.gov (United States)

    Tack, Jan; Deloose, Eveline

    2014-08-01

    Bariatric surgical procedure are increasingly and successfully applied in the treatment of morbid obesity. Nevertheless, these procedures are not devoid of potential long-term complications. Dumping syndrome may occur after procedures involving at least partial gastric resection or bypass, including Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy. Diagnosis is based on clinical alertness and glucose tolerance testing. Treatment may involve dietary measures, acarbose and somatostatin analogues, or surgical reintervention for refractory cases. Gastro-esophageal reflux disease (GERD) can be aggravated by vertical banded gastroplasty and sleeve gastrectomy procedures, but pre-existing GERD may improve after RYGB and with adjustable gastric banding. Nutrient deficiencies constitute the most important long-term complications of bariatric interventions, as they may lead to haematological, metabolic and especially neurological disorders which are not always reversible. Malabsorptive procedures, poor postoperative nutrient intake, recurrent vomiting and poor compliance with vitamin supplement intake and regular follow-up are important risk factors. Preoperative nutritional assessment and rigourous postoperative follow-up plan with administration of multi-vitamin supplements and assessment of serum levels is recommended in all patients. Copyright © 2014. Published by Elsevier Ltd.

  6. Motor hyperactivity of the iron-deficient rat - an animal model of restless legs syndrome.

    Science.gov (United States)

    Lai, Yuan-Yang; Cheng, Yu-Hsuan; Hsieh, Kung-Chiao; Nguyen, Darian; Chew, Keng-Tee; Ramanathan, Lalini; Siegel, Jerome M

    2017-12-01

    Abnormal striatal dopamine transmission has been hypothesized to cause restless legs syndrome. Dopaminergic drugs are commonly used to treat restless legs syndrome. However, they cause adverse effects with long-term use. An animal model would allow the systematic testing of potential therapeutic drugs. A high prevalence of restless legs syndrome has been reported in iron-deficient anemic patients. We hypothesized that the iron-deficient animal would exhibit signs similar to those in restless legs syndrome patients. After baseline polysomnographic recordings, iron-deficient rats received pramipexole injection. Then, iron-deficient rats were fed a standard rodent diet, and polysomnographic recording were performed for 2 days each week for 4 weeks. Iron-deficient rats have low hematocrit levels and show signs of restless legs syndrome: sleep fragmentation and periodic leg movements in wake and in slow-wave sleep. Iron-deficient rats had a positive response to pramipexole treatment. After the iron-deficient rats were fed the standard rodent diet, hematocrit returned to normal levels, and sleep quality improved, with increased average duration of wake and slow-wave sleep episodes. Periodic leg movements decreased during both waking and sleep. Hematocrit levels positively correlated with the average duration of episodes in wake and in slow-wave sleep and negatively correlated with periodic leg movements in wake and in sleep. Western blot analysis showed that striatal dopamine transporter levels were higher in iron-deficient rats. The iron-deficient rat is a useful animal model of iron-deficient anemic restless legs syndrome. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  7. Effect of Testosterone Replacement Therapy on Cognitive Performance and Depression in Men with Testosterone Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Hyun Jin Jung

    2016-12-01

    Full Text Available Purpose: We aimed to evaluate the effect of testosterone replacement therapy (TRT on cognitive function and depression in men with testosterone deficiency syndrome. Materials and Methods: We carried out a prospective, placebo-controlled trial involving 106 men with total testosterone levels <3.3 ng/mL and symptoms of hypogonadism. Based on whether the patients received TRT (injection with 1,000 mg testosterone undecanoate or a placebo (advice to modify lifestyle, the study population was divided into a TRT group (n=54 and a control group (n=52. Results: The age among patients in the TRT and control groups was 56.7±12.6 years and 57.8±11.4 years, respectively (p> 0.05. At baseline, no significant differences between the TRT and control groups were noted regarding serum testosterone or prostate-specific antigen levels, or regarding the scores for aging symptoms (Aging Males’ Symptoms scale, erectile function (5-item International Index of Erectile Function questionnaire, cognitive function (Korean Mini-Mental State Examination, and depression (Beck Depression Inventory. At 8 months after intervention total serum testosterone levels and erectile function scores had significantly increased (p<0.05, whereas the scores for aging symptoms and depression had significantly decreased (p<0.05 in the TRT group; no significant improvement in any parameters was noted for the control group. Notably, significant improvement in cognitive function was noted among patients with cognitive impairment at baseline (cognitive function score <25 who received TRT. Conclusions: TRT may be considered in men with testosterone deficiency syndrome if low testosterone levels are associated with depression or cognitive impairment.

  8. EFL Teachers' Perceptions of Strategy Deficiency Syndrome: A Grounded Theory Study

    Science.gov (United States)

    Ostovar-Namaghi, Seyyed Ali; Ahmadabadi-Tak, Bahareh

    2017-01-01

    Strategy-deficient language learners struggle to develop their language proficiency through limiting and inappropriate strategies. This study aims at exploring experienced teachers' perceptions of strategy deficiency syndrome among EFL learners. To this end, the perspectives of a purposive sample of experienced teachers teaching in private…

  9. Review Article: Practical Aspects of Testosterone Deficiency Syndrome in Clinical Urology

    OpenAIRE

    Hisham A. Mosli

    2012-01-01

    In this review we describe the clinical manifestations associated with testosterone deficiency in aging men, termed the testosterone deficiency syndrome (TDS). Since aging men suffer from multiple urological and andrological symptoms, TDS is an important medical condition to be suspected, recognized, clinically and biochemically diagnosed and therefore effectively and successfully treated.

  10. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

    OpenAIRE

    Groebe, H; Krins, M; Schmidberger, H; von Figura, K; Harzer, K; Kresse, H; Paschke, E; Sewell, A; Ullrich, K

    1980-01-01

    Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both patients were deficient in acid beta-galactosidase (beta-gal) and normal in N-acetylgalactosamine-6-sulfate sulfatase, the deficient enzyme in classical Morquio syndrome. The beta-gal deficiency was ...

  11. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    Science.gov (United States)

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. © 2015 S. Karger AG, Basel.

  12. Selective IgA deficiency mimicking Churg-Strauss syndrome and hypereosinophilic syndrome: a case report.

    Science.gov (United States)

    Takahashi, Noriyuki; Kondo, Takeshi; Fukuta, Mamiko; Takemoto, Ayumu; Takami, Yuichiro; Sato, Motoki; Ando, Takafumi; Hashimoto, Naozumi; Suzuki, Tomio; Sato, Juichi; Yamamura, Masahiro; Ban, Nobutaro

    2013-02-01

    Selective IgA deficiency (SIgAD) is the most common type of primary immunoglobulin deficiency. Most individuals with SIgAD are asymptomatic. However, some patients are associated with allergic and autoimmune disease. SIgAD is included in the list of differential diagnoses of eosinophilia. We experienced a patient who initially presented with abdominal pain and eosinophilia. A >1-year follow-up revealed SIgAD, and we had difficulty differentiating it from Churg-Strauss syndrome (CSS) or hypereosinophilic syndrome (HES). A 66-year-old Japanese male presented with a history of recurrent abdominal pain. A diagnostic work-up revealed eosinophilia, eosinophilic gastritis, eosinophilic pneumonia, and SIgAD over 1 year of clinical observation. He also suffered from asthma and sinusitis. Anti-neutrophil cytoplasmic antibody was negative and vasculitis was not detected in the obtained tissue specimens of stomach, lung, nose and skin. The patient showed no evidence of drug ingestion, parasitic infections, or malignant neoplasms. Although we cannot rule out prevasculitic CSS and idiopathic HES, the whole clinical picture in this patient can be explained most consistently by SIgAD.

  13. Dopamine and glucose, obesity, and reward deficiency syndrome.

    Science.gov (United States)

    Blum, Kenneth; Thanos, Panayotis K; Gold, Mark S

    2014-01-01

    Obesity as a result of overeating as well as a number of well described eating disorders has been accurately considered to be a world-wide epidemic. Recently a number of theories backed by a plethora of scientifically sound neurochemical and genetic studies provide strong evidence that food addiction is similar to psychoactive drug addiction. Our laboratory has published on the concept known as Reward Deficiency Syndrome (RDS) which is a genetic and epigenetic phenomena leading to impairment of the brain reward circuitry resulting in a hypo-dopaminergic function. RDS involves the interactions of powerful neurotransmitters and results in abnormal craving behavior. A number of important facts which could help translate to potential therapeutic targets espoused in this focused review include: (1) consumption of alcohol in large quantities or carbohydrates binging stimulates the brain's production of and utilization of dopamine; (2) in the meso-limbic system the enkephalinergic neurons are in close proximity, to glucose receptors; (3) highly concentrated glucose activates the calcium channel to stimulate dopamine release from P12 cells; (4) a significant correlation between blood glucose and cerebrospinal fluid concentrations of homovanillic acid the dopamine metabolite; (5) 2-deoxyglucose (2DG), the glucose analog, in pharmacological doses is associated with enhanced dopamine turnover and causes acute glucoprivation. Evidence from animal studies and fMRI in humans support the hypothesis that multiple, but similar brain circuits are disrupted in obesity and drug dependence and for the most part, implicate the involvement of DA-modulated reward circuits in pathologic eating behaviors. Based on a consensus of neuroscience research treatment of both glucose and drug like cocaine, opiates should incorporate dopamine agonist therapy in contrast to current theories and practices that utilizes dopamine antagonistic therapy. Considering that up until now clinical utilization

  14. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome

    NARCIS (Netherlands)

    Westdorp, Harm; Kolders, Sigrid; Hoogerbrugge, Nicoline; de Vries, I Jolanda M; Jongmans, Marjolijn C.J.; Schreibelt, Gerty

    2017-01-01

    Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations

  15. Attention-deficit-hyperactivity disorder and reward deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Kenneth Blum

    2008-11-01

    form of a gene (DRD2 A1 allele that prevents the expression of the normal laying down of dopamine receptors in brain reward sites. This gene, and others involved in neurophysiological processing of specific neurotransmitters, have been associated with defi cient functions and predispose individuals to have a high risk for addictive, impulsive, and compulsive behavioral propensities. It has been proposed that genetic variants of dopaminergic genes and other “reward genes” are important common determinants of reward deficiency syndrome (RDS, which we hypothesize includes ADHD as a behavioral subtype. We further hypothesize that early diagnosis through genetic polymorphic identification in combination with DNA-based customized nutraceutical administration to young children may attenuate behavioral symptoms associated with ADHD. Moreover, it is concluded that dopamine and serotonin releasers might be useful therapeutic adjuncts for the treatment of other RDS behavioral subtypes, including addictions.Keywords: attention deficit hyperactivity disorder (ADHD, genes, reward dependence, reward deficiency syndrome, treatment, neuropsychological deficits

  16. Paroxysmal eye-head movements in Glut1 deficiency syndrome.

    Science.gov (United States)

    Pearson, Toni S; Pons, Roser; Engelstad, Kristin; Kane, Steven A; Goldberg, Michael E; De Vivo, Darryl C

    2017-04-25

    To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye-head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Paroxysmal eye-head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  17. [Pharyngeal ulcer in patients with acquired immune deficiency syndrome].

    Science.gov (United States)

    Fang, Gaoli; Zhang, Luo; Wang, Chengshuo; Xiao, Jiang; Fu, Qian; Zhao, Hongxin

    2014-02-01

    To understand the high incidence of pharyngeal ulcer in patients with acquired immune deficiency syndrome (AIDS). By analyzing the clinical features in AIDS patients with pharyngeal ulcer, this study provided reference for clinicians. Twenty AIDS patients with pharyngeal ulcer were retrospectively analysed to explore its clinical features and mechanism, and to explore the feasible therapeutic methods. The patients generally had severe sore throat and dysphagia for 7 days to 8 months, resulting in significant weight loss. Common therapeutical method does not work. The ulcers developed mainly at vestibule of pharynx (10 cases), tonsil (3 cases), epiglottis (3 cases) and pyriform sinus (2 cases). Ulcer types included major aphthous ulcer (MaAU, 14 cases), fungal ulcer (2 cases), herpes zoster (1 case), ulcer secondary to drug eruption(1 case ), and lymphoma(2 cases). The disease course was long with CD4(+) T lymphocytes decreased significantly. Treatment was given with highly active antiretroviral therapy (HARRT), regulation of immune function, analgesic, anti-inflammatory and anti fungal. Treatment lasted from 2 weeks to 3 months, ulcer healed in 13 cases; 1 patient lost to follow-up, 6 patients dead. The manifestation of pharyngeal ulcer in AIDS patients has its particularity. It is often associated with a variety of opportunistic infection and tumors. Local treatment is preferred. HAART therapy and systemic comprehensive treatment play more important and effective role. Pharyngeal ulcer persists for a long time, complicated with fever, diarrhea and other symptoms. The history of blood transfusion, injection drug use or unsafe sexual behavior may predict HIV infection.

  18. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

    DEFF Research Database (Denmark)

    Kanavin, Øjvind; Woldseth, Berit; Jellum, Egil

    2007-01-01

    previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD. PMID: 17883863 [PubMed - in process]......ABSTRACT: BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism...

  19. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation

    DEFF Research Database (Denmark)

    Kanavin, Oivind J; Woldseth, Berit; Jellum, Egil

    2007-01-01

    BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism and a history...... cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD....

  20. [Effect of iron deficiency and iron deficiency anemia in the first two years of life on cognitive and mental development during childhood].

    Science.gov (United States)

    Glazer, Yael; Bilenko, Natalya

    2010-05-01

    The prevalence of iron deficiency anemia among infants and children over the world ranges between 2%-22.5%. Iron is essential for intact development of the body, and especiaLLy for the development of the central nervous system in the first two years of Life. To examine, through a review of the literature, if there is any relation between iron deficiency and iron deficiency anemia (IDA), and cognitive and mental development in the first two years of life. A review of 10 longitudinal and clinical trials from the last 16 years, in which this correlation was examined. According to recent studies, the relation between iron deficiency and iron deficiency anemia to cognitive and mental development in childhood is stiLL unclear. Followup studies found poorer cognitive scores on measures of mental and cognitive functioning in the long run. Intervention trials in which iron supplementation was administered to infants with IDA, found an improvement in Language and mental deveLopmental test scores. However, micronutrient intervention, or zinc and iron combined or alone, did not improve performance on mental tests. The studies differed in the characteristics of the study population, definition of exposure, type of treatment and confounders. It is difficult to assess a causal relationship between iron deficiency and iron deficiency anemia, and cognitive and mental development in childhood, mainly due to methodoLogical and ethical reasons. However, most studies from recent years support a negative association. The Ministry of Health in israel recommends iron as a preventive action for iron deficiency in infants.

  1. jovem portador de deficiência mental com conduta anti-social

    OpenAIRE

    Moura, Sérgio Adriano Fonseca

    2009-01-01

    Dissertação de Mestrado apresentada à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Psicologia, especialização em Psicologia Clínica e da Saúde. O presente estudo de caso propõe-se a estudar o eventual diagnóstico de Deficiência Mental (Atraso Mental) e a Perturbação da Personalidade Anti-Social num jovem de 18 anos, que se encontra sob a custodia da Segurança Social e reside num Lar de Acolhimento. O estudo tem dois grandes objectivos: ...

  2. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

    Science.gov (United States)

    Arias, Angela; Corbella, Marc; Fons, Carmen; Sempere, Angela; García-Villoria, Judit; Ormazabal, Aida; Poo, Pilar; Pineda, Mercé; Vilaseca, María Antonia; Campistol, Jaume; Briones, Paz; Pàmpols, Teresa; Salomons, Gajja S; Ribes, Antonia; Artuch, Rafael

    2007-11-01

    To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall. We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS. Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test: pdeficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.

  3. Vitamin D Deficiency and Associated Factors in Patients with Mental Disorders Treated in Routine Practice.

    Science.gov (United States)

    Ristic, Svetlana; Zivanovic, Sandra; Milovanovic, Dragan R; Janjic, Vladimir; Djokovic, Danijela; Jovicevic, Ana; Pirkovic, Marijana Stanojevic; Kocic, Sanja

    2017-01-01

    This research aimed to investigate factors associated with vitamin D deficiency and to provide data about its prevalence in patients suffering from different psychiatric illnesses. The study had a cross-sectional design and it included 220 patients of both genders, aged from 19-81 y, with a wide range of mental disorders (F00-F89), and treated in routine ambulatory and hospital practice. The researchers collected data from three sources: medical records, a study questionnaire and biochemical analysis of patients' serum samples (concentration of vitamin D measured as 25(OH)D, calcium, phosphorus, magnesium, sodium and potassium). Data were analyzed using descriptive statistics, methods for hypothesis testing and binary logistic regression, at the p≤0.05 level. A total of 140 patients (64%) had a deficiency of vitamin D (20 ng/mL). Among variables related to demographics, life style habits, mental illness, comorbid disorders and drugs, two of them, female gender (odds ratio (OR)=2.5, 95% confidence interval (CI)=1.3-4.9, p=0.006) and using clozapine (OR=15.6, 95% CI 1.7-144.7, p=0.02), were significantly associated with vitamin D deficiency. Physical activity (OR= 0.4, 95% CI 0.2-0.9, p=0.02), exercising (OR=0.2, 95% CI deficiency cut-off level. Patients with mental disorders are at high risk for vitamin D deficiency, particularly females and clozapine users as well as those having no adequate physical activity or dietary habits.

  4. Observation of Multimedia-Assisted Instruction in the Listening Skills of Students with Mild Mental Deficiency

    Science.gov (United States)

    Akin, Erhan

    2016-01-01

    This study was carried out with 2 students with mild mental deficiency, one in 5th grade and the other in 6th grade of Turgut Özal Secondary School in Bulanik County of Mus Province. It was done during the spring semester of the 2014-2015 school year in order to observe the effect of multimedia-assisted instruction on listening skills of…

  5. O ser-com o filho com deficiência mental: alguns desvelamentos

    Directory of Open Access Journals (Sweden)

    Luciana Gomes Almeida de Souza

    2003-12-01

    Full Text Available A compreensão do cuidar do filho com deficiência mental se faz relevante diante da importância das relações estabelecidas entre pais e filhos para a saúde mental da criança. Nesta investigação foi usado o referencial teórico-metodológico da fenomenologia, que se propõe a desocultar facetas de um fenômeno que se encontram obscuras. Onze casais e duas mães com filhos com deficiência mental foram entrevistados, tendo-se a seguinte questão norteadora: "como vem sendo cuidar de seu filho?". Os relatos foram analisados segundo a busca das convergências e foi possível compreender que, para os pais investigados, há uma dificuldade de conceber o ser-com-deficiência, e o conhecimento experiencial é relevante para encontrar meios de favorecer o seu desenvolvimento; o apego ao filho é vivido como possibilidade de reconhecimento da diversidade humana. Os pais se mostraram participantes no cuidado, embora com atitudes ainda permeadas por concepções de que essa responsabilidade caberia à mãe.

  6. A qualidade de vida de pessoas com deficiência mental leve

    Directory of Open Access Journals (Sweden)

    Fernanda Saviani-Zeoti

    Full Text Available Não é prática comum dar voz a pessoas com deficiência, mesmo quando se trata da investigação de sua própria qualidade de vida. Assim, este estudo teve por objetivo conhecer a opinião de 15 adultos com deficiência mental leve em relação a sua qualidade de vida e a opinião de seus cuidadores também a esse respeito, por meio de um instrumento que avalia a qualidade de vida (WHOQOL-Bref. Os dados foram analisados estatisticamente e comparados. Os resultados mostram que a diferença entre as avaliações foi pequena nas questões referentes à satisfação com os domínios físico, psicológico, das relações sociais e do meio ambiente. A avaliação feita pelas pessoas com deficiência foi apenas ligeiramente superior àquela feita por seus cuidadores. Não houve diferença estatisticamente significativa entre as avaliações, do que se conclui que as pessoas com deficiência mental são capazes de falar de suas próprias vidas de maneira positiva e bastante realista.

  7. Reward deficiency syndrome: genetic aspects of behavioral disorders.

    Science.gov (United States)

    Comings, D E; Blum, K

    2000-01-01

    The dopaminergic and opioidergic reward pathways of the brain are critical for survival since they provide the pleasure drives for eating, love and reproduction; these are called 'natural rewards' and involve the release of dopamine in the nucleus accumbens and frontal lobes. However, the same release of dopamine and production of sensations of pleasure can be produced by 'unnatural rewards' such as alcohol, cocaine, methamphetamine, heroin, nicotine, marijuana, and other drugs, and by compulsive activities such as gambling, eating, and sex, and by risk taking behaviors. Since only a minority of individuals become addicted to these compounds or behaviors, it is reasonable to ask what factors distinguish those who do become addicted from those who do not. It has usually been assumed that these behaviors are entirely voluntary and that environmental factors play the major role; however, since all of these behaviors have a significant genetic component, the presence of one or more variant genes presumably act as risk factors for these behaviors. Since the primary neurotransmitter of the reward pathway is dopamine, genes for dopamine synthesis, degradation, receptors, and transporters are reasonable candidates. However, serotonin, norepinephrine, GABA, opioid, and cannabinoid neurons all modify dopamine metabolism and dopamine neurons. We have proposed that defects in various combinations of the genes for these neurotransmitters result in a Reward Deficiency Syndrome (RDS) and that such individuals are at risk for abuse of the unnatural rewards. Because of its importance, the gene for the [figure: see text] dopamine D2 receptor was a major candidate gene. Studies in the past decade have shown that in various subject groups the Taq I A1 allele of the DRD2 gene is associated with alcoholism, drug abuse, smoking, obesity, compulsive gambling, and several personality traits. A range of other dopamine, opioid, cannabinoid, norepinephrine, and related genes have since been

  8. Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

    Science.gov (United States)

    Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

    2015-10-01

    Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  9. [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

    Science.gov (United States)

    Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

    2017-06-01

    Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

  10. Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.

    Science.gov (United States)

    Shiohama, Tadashi; Fujii, Katsunori; Takahashi, Satoru; Nakamura, Fumito; Kohno, Yoichi

    2013-12-01

    Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet. This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Small for Gestational Age and Magnesium: Intrauterine magnesium deficiency may induce metabolic syndrome in later life

    OpenAIRE

    Junji Takaya

    2015-01-01

    Magnesium deficiency during pregnancy as a result of insufficient or low intake of magnesium is common in developing and developed countries. Previous reports have shown that intracellular magnesium of cord blood platelets is lower among small for gestational age (SGA) groups than that of appropriate for gestational age (AGA) groups, suggesting that intrauterine magnesium deficiency may result in SGA. Additionally, the risk of adult-onset diseases such as insulin resistance syndrome is greate...

  12. Brainstem serotonergic deficiency in sudden infant death syndrome.

    Science.gov (United States)

    Duncan, Jhodie R; Paterson, David S; Hoffman, Jill M; Mokler, David J; Borenstein, Natalia S; Belliveau, Richard A; Krous, Henry F; Haas, Elisabeth A; Stanley, Christina; Nattie, Eugene E; Trachtenberg, Felicia L; Kinney, Hannah C

    2010-02-03

    Sudden infant death syndrome (SIDS) is postulated to result from abnormalities in brainstem control of autonomic function and breathing during a critical developmental period. Abnormalities of serotonin (5-hydroxytryptamine [5-HT]) receptor binding in regions of the medulla oblongata involved in this control have been reported in infants dying from SIDS. To test the hypothesis that 5-HT receptor abnormalities in infants dying from SIDS are associated with decreased tissue levels of 5-HT, its key biosynthetic enzyme (tryptophan hydroxylase [TPH2]), or both. Autopsy study conducted to analyze levels of 5-HT and its metabolite, 5-hydroxyindoleacetic acid (5-HIAA); levels of TPH2; and 5-HT(1A) receptor binding. The data set was accrued between 2004 and 2008 and consisted of 41 infants dying from SIDS (cases), 7 infants with acute death from known causes (controls), and 5 hospitalized infants with chronic hypoxia-ischemia. Serotonin and metabolite tissue levels in the raphé obscurus and paragigantocellularis lateralis (PGCL); TPH2 levels in the raphé obscurus; and 5-HT(1A) binding density in 5 medullary nuclei that contain 5-HT neurons and 5 medullary nuclei that receive 5-HT projections. Serotonin levels were 26% lower in SIDS cases (n = 35) compared with age-adjusted controls (n = 5) in the raphé obscurus (55.4 [95% confidence interval {CI}, 47.2-63.6] vs 75.5 [95% CI, 54.2-96.8] pmol/mg protein, P = .05) and the PGCL (31.4 [95% CI, 23.7-39.0] vs 40.0 [95% CI, 20.1-60.0] pmol/mg protein, P = .04). There was no evidence of excessive 5-HT degradation assessed by 5-HIAA levels, 5-HIAA:5-HT ratio, or both. In the raphé obscurus, TPH2 levels were 22% lower in the SIDS cases (n = 34) compared with controls (n = 5) (151.2% of standard [95% CI, 137.5%-165.0%] vs 193.9% [95% CI, 158.6%-229.2%], P = .03). 5-HT(1A) receptor binding was 29% to 55% lower in 3 medullary nuclei that receive 5-HT projections. In 4 nuclei, 3 of which contain 5-HT neurons, there was a decrease with

  13. Anti-thrombin III, Protein C, and Protein S deficiency in acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Dasnan Ismail

    2002-06-01

    Full Text Available The final most common pathway for the majority of coronary artery disease is occlusion of a coronary vessel. Under normal conditions, antithrombin III (AT III, protein C, and protein S as an active protein C cofactor, are natural anticoagulants (hemostatic control that balances procoagulant activity (thrombin antithrombin complex balance to prevent thrombosis. If the condition becomes unbalanced, natural anticoagulants and the procoagulants can lead to thrombosis. Thirty subjects with acute coronary syndrome (ACS were studied for the incidence of antithrombin III (AT III, protein C, and protein S deficiencies, and the result were compare to the control group. Among patients with ACS, the frequency of distribution of AT-III with activity < 75% were 23,3% (7 of 30, and only 6,7% ( 2 of 30 in control subject. No one of the 30 control subject have protein C activity deficient, in ACS with activity < 70% were 13,3% (4 of 30. Fifteen out of the 30 (50% control subjects had protein S activity deficiency, while protein S deficiency activity < 70% was found 73.3.% (22 out of 30. On linear regression, the deterministic coefficient of AT-III activity deficiency to the development ACS was 13,25 %, and the deterministic coefficient of protein C activity deficient to the development of ACS was 9,06 %. The cut-off point for AT-III without protein S deficiency expected to contribute to the development of vessel disease was 45%. On discriminant analysis, protein C activity deficiency posed a risk for ACS of 4,5 greater than non deficient subjects, and AT-III activity deficiency posed a risk for ACS of 3,5 times greater than non deficient subjects. On binary logistic regression, protein S activity acted only as a reinforcing factor of AT-III activity deficiency in the development of ACS. Protein C and AT III deficiency can trigger ACS, with determinant coefficients of 9,06% and 13,25% respectively. Low levels of protein C posed a greater risk of

  14. Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

    Science.gov (United States)

    Lambotte, Olivier; Neven, Bénédicte; Galicier, Lionel; Magerus-Chatinet, Aude; Schleinitz, Nicolas; Hermine, Olivier; Meyts, Isabelle; Picard, Capucine; Godeau, Bertrand; Fischer, Alain; Rieux-Laucat, Frédéric

    2013-01-01

    A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphopro-liferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. The 5 other patients presented their first symptoms after the age of 16 years. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset. PMID:22983577

  15. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

    Science.gov (United States)

    Toutain, A; Ayrault, A D; Moraine, C

    1997-08-22

    Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.

  16. Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults.

    Science.gov (United States)

    Teplitsky, Valery; Huminer, David; Zoldan, Joseph; Pitlik, Silvio; Shohat, Mordechai; Mittelman, Moshe

    2003-12-01

    Transcobalamin II is a serum transport protein for vitamin B12. Small variations in TC-II affinity were recently linked to a high homocysteine level and increased frequency of neural tube defects. Complete absence of TC-II or total functional abnormality causes tissue vitamin B12 deficiency resulting in a severe disease with megaloblastic anemia and immunologic and intestinal abnormalities in the first months of life. This condition was described in hereditary autosomal-recessive form. Low serum TC-II without any symptoms or clinical significance was noted in relatives of affected homozygotes. To study 23 members of a four-generation family with hereditary vitamin B12 deficiency and neurologic disorders. Thorough neurologic, hematologic and family studies were supplemented by transcobalamin studies in 20 family members. Partial TC-II deficiency was found in 19 subjects. Apo TC-II (free TC-II unbound to vitamin B12) and total unsaturated B12 binding capacity were low in all tested individuals but one, and holo TC-II (TC-II bound by vitamin B12) was low in all family members. The presentation of the disease was chronic rather than acute. Early signs in children and young adults were dyslexia, decreased IQ, vertigo, plantar clonus and personality disorders. Interestingly, affected children and young adults had normal or slightly decreased serum vitamin B12 levels but were not anemic. Low serum B12 levels were measured in early adulthood. In mid-late adulthood megaloblastic anemia and subacute combined degeneration of the spinal cord were diagnosed. Treatment with B12 injections resulted in a significant improvement. The pedigree is compatible with an autosomal-dominant transmission. This family study suggests a genetic heterogeneity of TC-II deficiency. We report the first family with a hereditary transmitted condition of low serum TC-II (partial TC-II deficiency) associated with neurologic and mental manifestations in childhood. Partial TC-II deficiency may decrease

  17. [The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

    Science.gov (United States)

    Jakimiuk, Artur J; Szamatowicz, Jacek

    2014-01-01

    Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

  18. [Relationship between vitamin D deficiency and metabolic syndrome in adult population of the Community of Madrid].

    Science.gov (United States)

    Gradillas-García, Antonio; Álvarez, Julia; Rubio, José Antonio; de Abajo, Francisco J

    2015-04-01

    Previous studies have suggested an association between MS and vitamin D deficiency, but data are not conclusive. This study was intended to find out if metabolic syndrome, according to the 2009 IDF/AHA/NHLBI, is associated to the presence of vitamin D deficiency. A cross-sectional study was conducted on a sample of 326 subjects aged 18 years or older, recruited from a health center in Alcalá de Henares. Participants underwent an interview and a standardized clinical examination. In a second visit, blood tests were performed in 255 subjects to quantify serum levels of 25-hydroxyvitamin D (25 OH-VitD) and different laboratory parameters associated to MS. The association between vitamin D deficiency and metabolic syndrome (and each of its components) was examined. In the study population, MS prevalence was 36.1% and prevalence of vitamin D deficiency (25 OH-Vit D<20 ng/mL) was 56.3%. MS was more common in the group of patients with vitamin D deficiency (43.4%) than in the group with no deficiency (26.8%, P=.006), with an estimated prevalence ratio of 1.62 (95% CI: 1.13-2.31). Adjustment for age, sex, and body mass index did not change such association. There is a significant association between vitamin D deficiency and MS. Both conditions are highly prevalent in our population. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Tao Wu

    2015-01-01

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

  20. Zinc Deficiency-Like Syndrome in Fleckvieh Calves: Clinical and Pathological Findings and Differentiation from Bovine Hereditary Zinc Deficiency.

    Science.gov (United States)

    Langenmayer, M C; Jung, S; Majzoub-Altweck, M; Trefz, F M; Seifert, C; Knubben-Schweizer, G; Fries, R; Hermanns, W; Gollnick, N S

    2018-03-01

    Zinc deficiency-like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype. Nine hospitalized calves with crusting dermatitis and confirmed mutation in PLD4 and medical records from 25 calves with crusting dermatitis or suspected zinc deficiency. Prospective and retrospective case series. The 9 calves (age: 5-53 weeks) displayed a moderate to severe crusting dermatitis mainly on the head, ventrum, and joints. Respiratory and digestive tract inflammations were frequently observed. Zinc supplementation did not lead to remission of clinical signs in 4 calves. Laboratory variables revealed slight anemia in 8 calves, hypoalbuminemia in 6 calves, but reduced serum zinc concentrations in only 3 calves. Mucosal erosions/ulcerations were present in 7 calves and thymus atrophy or reduced thymic weights in 8 calves. Histologically, skin lesions were indistinguishable from BHZD. Retrospective analysis of medical records revealed the presence of this phenotype since 1988 and pedigree analysis revealed a common ancestor of several affected calves. ZDL syndrome should be suspected in Fleckvieh calves with crusting dermatitis together with diarrhea or respiratory tract inflammations without response to oral zinc supplementation. Definite diagnosis requires molecular genetic confirmation of the PLD4 mutation. Copyright © 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  1. Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

    Science.gov (United States)

    Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

    2013-10-15

    Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

  2. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

    NARCIS (Netherlands)

    Choe, C.U.; Nabuurs, C.I.H.C.; Stockebrand, M.C.; Neu, A.; Nunes, P.M.; Morellini, F.; Sauter, K.; Schillemeit, S.; Hermans-Borgmeyer, I.; Marescau, B.; Heerschap, A.; Isbrandt, D.

    2013-01-01

    Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine

  3. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

    Science.gov (United States)

    Lugar, Heather M; Koller, Jonathan M; Rutlin, Jerrel; Marshall, Bess A; Kanekura, Kohsuke; Urano, Fumihiko; Bischoff, Allison N; Shimony, Joshua S; Hershey, Tamara

    2016-02-18

    Wolfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabetes and vision, hearing and brain abnormalities which generally emerge in childhood. Mutations in the WFS1 gene predispose cells to endoplasmic reticulum stress-mediated apoptosis and may induce myelin degradation in neuronal cell models. However, in vivo evidence of this phenomenon in humans is lacking. White matter microstructure and regional volumes were measured using magnetic resonance imaging in children and young adults with Wolfram syndrome (n = 21) and healthy and diabetic controls (n = 50). Wolfram patients had lower fractional anisotropy and higher radial diffusivity in major white matter tracts and lower volume in the basilar (ventral) pons, cerebellar white matter and visual cortex. Correlations were found between key brain findings and overall neurological symptoms. This pattern of findings suggests that reduction in myelin is a primary neuropathological feature of Wolfram syndrome. Endoplasmic reticulum stress-related dysfunction in Wolfram syndrome may interact with the development of myelin or promote degeneration of myelin during the progression of the disease. These measures may provide objective indices of Wolfram syndrome pathophysiology that will be useful in unraveling the underlying mechanisms and in testing the impact of treatments on the brain.

  4. Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome--is everything fine? A case report and review of literature.

    Science.gov (United States)

    Glaser, Kirsten; Girschick, Hermann J; Schropp, Christian; Speer, Christian P

    2015-03-01

    Severe infantile vitamin B12 deficiency is occasionally reported in developed countries due to maternal nutritional deficiency. The clinical manifestation comprises megaloblastic anemia and neurodevelopmental delay culminating in demyelination and brain atrophy. Few case reports have documented manifestation of West syndrome. We report the 8-year long-term follow-up on a 6-month-old exclusively breast-fed girl with serious vitamin B12 deficiency secondary to undiagnosed maternal pernicious anemia. MRI revealed cerebral atrophy and delayed myelination. Strikingly, initial vitamin B12-mediated improvement of neurological and hematological findings was followed by temporary manifestation of infantile spasms requiring anticonvulsive therapy. Seizures soon dissolved, EEG and MRI scan normalized and developmental catch-up occurred. At the age of 8 years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe neurodevelopmental delay and symptomatic West syndrome. Infantile vitamin B12 deficiency has to be considered in the differential diagnosis of mental retardation and infantile spasms, especially if maternal nutritional deficiency might be suspected. Early treatment seems to be crucial for the prevention of irreversible brain damage. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  5. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus in Kearns-Sayre syndrome

    Directory of Open Access Journals (Sweden)

    A. Berio

    2013-06-01

    Full Text Available Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM. Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.

  6. Henoch-Schönlein syndrome and selective IgA deficiency.

    OpenAIRE

    Martini, A; Ravelli, A; Notarangelo, L D; Burgio, V L; Plebani, A

    1985-01-01

    A 9 year old girl presented with clinical manifestations of Henoch-Schönlein syndrome and macroscopic haematuria. Laboratory investigations showed selective IgA deficiency and renal biopsy showed mesangial proliferative glomerulonephritis with diffuse granular deposits of C3 on immunofluorescence. IgA deposits were absent.

  7. Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

    Science.gov (United States)

    Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

  8. Deficiency neuropathy in wartime: the "paraesthetic-causalgic syndrome" described by Manuel Peraita during the Spanish Civil War.

    Science.gov (United States)

    Huertas, Rafael; Del Cura, Maria Isabel

    2010-04-08

    This paper discusses the contribution of Spanish neurologist Manuel Peraita (1908-1950) to the study of deficiency neuropathy in the setting of the Spanish Civil War (1936-1939). The clinical characteristics of "paraesthetic-causalgic syndrome" or "Madrid syndrome" as described by Peraita are discussed, and the syndrome is presented in relation to other similar conditions, including Strachan's syndrome and burning feet syndrome.

  9. Dapsone hypersensitivity syndrome not related to G6PD deficiency.

    Science.gov (United States)

    Schulkes, Karlijn J G; Tervaert, J W Cohen; Rijken, Feiko; Haas, Lenneke E M

    2015-12-18

    Dapsone hypersensitivity syndrome (DHS) is a rare, but potentially life-threatening reaction to dapsone. We describe a 55-year-old Caucasian woman with normal glucose-6-phosphate dehydrogenase levels presenting with an extensive skin eruption, high-grade fever, pneumonitis and hepatitis, which occurred within 3 weeks after initiation of dapsone. In addition to supportive care, the patient was successfully treated with high-dose corticosteroids and antibiotics. The combination of high-grade fever, skin rash, lung and liver involvement made a dapsone hypersensitivity syndrome very likely. 2015 BMJ Publishing Group Ltd.

  10. Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

    Directory of Open Access Journals (Sweden)

    J.A. Avina Fierro

    2016-01-01

    Full Text Available We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique showed a balanced translocation between the chromosomes two and eleven: t(2:11 (q32.2/q24.

  11. Eye Complications of Acquired Immune Deficiency Syndrome (AIDS ...

    African Journals Online (AJOL)

    Skoludek_R

    Improved survival as a result of HAART has lead to increase in systemic and ocular complications as well as the appearance of syndromes related to ... activities of daily living. This paper reviews anterior segment and external ocular disorders associated with AIDS in an ... recognised by inspection. Posterior segment and.

  12. [Strategies to promote testosterone deficiency syndrome: a paradigm of disease mongering].

    Science.gov (United States)

    Gavilán, Enrique; Jiménez de Gracia, Laura; Gérvas, Juan

    2014-01-01

    The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

  13. Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

    Science.gov (United States)

    Arbisser, A I; Donnelly, K A; Scott, C I; DiFerrante, N; Singh, J; Stevenson, R E; Aylesworth, A S; Howell, R R

    1977-01-01

    A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

  14. A Case of Hypocalcaemia Due to Vitamin D Deficiency in ‘Hikikomori’ Syndrome

    Directory of Open Access Journals (Sweden)

    Takahiro Miyakoshi

    2017-09-01

    Full Text Available Objective: To describe hypocalcaemia due to vitamin D deficiency in ‘hikikomori’ syndrome. Materials and methods: A 37-year-old man with ‘hikikomori’ syndrome for a year was admitted with hypocalcaemia (serum ionic calcium 1.17 mmol/l. Serum 1,25(OH2-vitamin D3 determined by liquid chromatography–tandem mass spectrometry was depressed at 12.1 pg/ml (29.0 pmol/l and plasma intact PTH elevated at 324 ng/l. Administration of 1 μg/day 1α(OH-vitamin D3 and 1 g/day calcium lactate for 1 week normalized calcium and PTH, and raised 1,25(OH2-vitamin D3 to low normal levels. Conclusion: This is the first report of hypocalcaemia due to vitamin D deficiency in a patient with ‘hikikomori’ syndrome.

  15. Extreme stress and mental health: immigrant syndrome with chronic and multiple stress (the Ulysses syndrome

    Directory of Open Access Journals (Sweden)

    Joseba Achotegui Loizate

    2014-11-01

    Full Text Available Today, for millions of individuals, emigration presents stress levels of such intensity that they exceed the human capacity of adaptation: loneliness and the enforced separation from one’s loved ones, the failure of the migratory project, the experiencing of extreme hard ships and terror... These persons are, therefore, highly vulnerable to the Immigrant Syndrome with Chronic and Multiple Stress (the Ulysses Syndrome, in reference to the Greek hero who suffered countless adversities and dangers in lands far from his loved ones.We consider that a direct and unequivocal relationship exists between the stress limits which these immigrants experience and the symptomatology of The Ulysses Syndrome and that this Syndromeis found in the limit between the area of mental health and the area of psychopathology.

  16. Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

    Science.gov (United States)

    Curie, Aurore; Sacco, Silvia; Bussy, Gérald; de Saint Martin, Anne; Boddaert, Nathalie; Chanraud, Sandra; Meresse, Isabelle; Chelly, Jamel; Zilbovicius, Monica; des Portes, Vincent

    2009-01-01

    Rab-GDI mutations are responsible for "pure" mental deficiency, without any specific clinical features or brain malformation. Therefore, screening for mutations in mentally retarded patients is not available on a routine basis. Moreover, neuronal networks involved in mental deficiency still remain largely unknown. We performed a fine neuropsychological and imaging study in five patients from two unrelated families, affected with mental deficiency due to a mutation in the Rab-GDI gene. High resolution 3D brain MRI of the five mentally retarded adult males (mean age 33 years) were compared to MRI of 14 healthy males (mean age 35 years) using a Voxel-Based Morphometric analysis (VBM). All patients had isolated moderate mental retardation (WAIS-III IQ range, 41-50; mean 45) without specific morphological or behavioural features. No obvious brain abnormality was observed on visual inspection of individual scans. Using VBM analysis, Rab-GDI mutated patients' MRIs exhibited significant brain changes compared to normal subjects (pmental deficiency using gene-specific "brain maps" as endophenotypes.

  17. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

    Science.gov (United States)

    Groebe, H; Krins, M; Schmidberger, H; von Figura, K; Harzer, K; Kresse, H; Paschke, E; Sewell, A; Ullrich, K

    1980-03-01

    Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both patients were deficient in acid beta-galactosidase (beta-gal) and normal in N-acetylgalactosamine-6-sulfate sulfatase, the deficient enzyme in classical Morquio syndrome. The beta-gal deficiency was not due to an endogenous inhibitor, and the parents exhibited intermediate activities. Deficient beta-gal activity was observed toward p-nitrophenyl-beta-galactoside, 4-methylumbelliferyl-beta-galactoside (4 MU-beta-gal), lactose, GM1 ganglioside, keratan sulfate, and asialofetuin (ASF). Under standard assay conditions, the residual activity was similar for all substrates tested. Toward p-nitrophenyl-beta-glactoside, the mutant enzyme behaved as a Km variant.

  18. Mental and Behavioral Symptoms of Person's with Asperger's Syndrome: Relationships with Social Isolation and Handicaps

    Science.gov (United States)

    Tani, Masayuki; Kanai, Chieko; Ota, Haruhisa; Yamada, Takashi; Watanabe, Hiromi; Yokoi, Hideki; Takayama, Yuko; Ono, Taisei; Hashimoto, Ryuichiro; Kato, Nobumasa; Iwanami, Akira

    2012-01-01

    People with Asperger's syndrome (AS) experience mental comorbidities, and behavioral symptoms that can deepen social isolation and handicaps. We compared the frequency of mental and behavioral symptoms, motor abnormality, and life history between adults with AS and those with no mental disorders but with disturbance of social functions and…

  19. Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

    Science.gov (United States)

    Rahmandar, Maria H; Bawcom, Amanda; Romano, Mary E; Hamid, Rizwan

    2014-12-01

    Although cobalamin (cbl) C deficiency is the most common inherited disorder of vitamin B12 metabolism, the late-onset form of the disease can be difficult to recognize because it has a broad phenotypic spectrum. In this report, we describe an adolescent female exposed to unknown illicit substances and sexual abuse who presented with psychosis, anorexia, seizures, and ataxia. The patient's diagnosis was delayed until a metabolic workup was initiated, revealing hyperhomocysteinemia, low normal plasma methionine, and methylmalonic aciduria. Ultimately, cblC deficiency was confirmed when molecular testing showed compound heterozygosity for mutations (c.271dupA and c.482G>A) in the MMACHC gene. This diagnosis led to appropriate treatment with hydroxocobalamin, betaine, and folate, which resulted in improvement of her clinical symptoms and laboratory values. This patient demonstrates a previously unrecognized presentation of late-onset cblC deficiency. Although neuropsychiatric symptoms are common in late-onset disease, seizures and cerebellar involvement are not. Furthermore, anorexia has not been previously described in these patients. This case emphasizes that inborn errors of metabolism should be part of the differential diagnosis for a teenager presenting with altered mental status, especially when the diagnosis is challenging or neurologic symptoms are unexplained. Correct diagnosis of this condition is important because treatment is available and can result in clinical improvement.(1.) Copyright © 2014 by the American Academy of Pediatrics.

  20. Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

    Science.gov (United States)

    Perche, Olivier; Menuet, Arnaud; Marcos, Mélanie; Liu, Luyan; Pâris, Arnaud; Utami, Kagistia H; Kervran, Dominique; Cacheux, Valere; Laudier, Béatrice; Briault, Sylvain

    2013-11-01

    7qter deletion syndrome includes prenatal and/or postnatal growth retardation, microcephaly, psychomotor delay or mental retardation and a characteristic dysmorphism. If clinical features are well described, the molecular mechanisms underlying the 7qter deletion syndrome remain unknown. Those deletions usually arise de novo. Here, we describe a young boy with an abnormal phenotype consistent with a 7qter deletion syndrome. High resolution genomic analysis (Affymetrix Human Genome Wide SNP 6.0) revealed a 7q36.3 deletion encompassing NCAPG2, ESYT2, WDR60 and VIPR2, inherited from his asymptomatic father and paternal grandfather. In addition, the patient also harbored a MCPH1 deletion inherited from his healthy mother. Combined NCAPG2 and MCPH1 deletions were correlated with low mRNA levels and protein expression in the patient. MCPH1 and NCAPG2 proteins interaction is known to control chromosome structure and we thus propose that double heterozygosity for null mutations of those two genes of the Condensin II system contribute to mental deficiency with severe microcephaly phenotype. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  1. Vitamin D deficiency and cardiometabolic syndrome: Is the evidence solid?

    Directory of Open Access Journals (Sweden)

    Lubna A.G. Mahmood

    2017-01-01

    Full Text Available Vitamin D is a fat-soluble vitamin which has an important role in bone metabolism with some anti-inflammatory and immune-modulating properties. It is very unique since it can be made in the skin from exposure to sunlight. Cardiometabolic syndrome (CMS is a group of metabolic abnormalities that can increase the risk of cardiovascular disease and type 2 diabetes. It develops in an individual with any three of the following risk factors including obesity, diabetes, hypertension, dyslipidemia, and thrombosis. Both dietary and environmental factors, when combined with a sedentary lifestyle, lead to metabolic syndrome (MS risk factors. The research outcomes propose to increase the current Vitamin D fortification level in foods to reduce the risk factors of the MS. Further researches are needed before clinical practice can recommend a Vitamin D prescription as a treatment for CMS in the general population.

  2. Primary cardiac lymphoma in a patient with acquired immune deficiency syndrome

    International Nuclear Information System (INIS)

    Constantino, A.; West, T.E.; Gupta, M.; Loghmanee, F.

    1987-01-01

    A 34-year-old male prisoner with a history of intravenous drug abuse presented with fever, lymphadenopathy, weight loss, and recent onset of congestive heart failure. Serologic testing was positive for antibodies to human immune deficiency virus. There was intense myocardial uptake of gallium. Autopsy showed a primary immunoblastic lymphoma involving only the myocardium. While primary cardiac lymphoma is an extremely rare condition, the incidence may be higher in patients with acquired immune deficiency syndrome (AIDS) and should be suspected in cases with atypical cardiomyopathy

  3. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome

    DEFF Research Database (Denmark)

    Jabbari Azad, Farahzad; Ardalan, Maryam; H.Rafati, Ali

    2010-01-01

    Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old girl...... diagnosed LAD-I at the age of 7 years was brought to the Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, because of a draining plaque on the left leg for 2.5 years. She had recurrent skin infections and had been treated with repeated courses of different antibiotic...... combinations, with temporary responses, since 5 years of age. Examination revealed a 7 x 8 cm minimally erythematous hyperpigmented plaque with multiple draining sinuses on the left leg. Tissue culture yielded Pseudomonas aeruginosa. Flow cytometry showed CD18 (18.79%), CD11a (51.59%), CD11b (18.61%) and CD11c...

  4. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    International Nuclear Information System (INIS)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli

    2014-01-01

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  5. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  6. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: median arcuate ligament syndrome.

    Science.gov (United States)

    Gunduz, Yasemin; Asil, Kıyasettin; Aksoy, Yakup Ersel; Tatlı Ayhan, Laçin

    2014-01-01

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  7. Impact on infants' cognitive development of antenatal exposure to iron deficiency disorder and common mental disorders.

    Science.gov (United States)

    Tran, Thach Duc; Biggs, Beverley-Ann; Tran, Tuan; Simpson, Julie Anne; Hanieh, Sarah; Dwyer, Terence; Fisher, Jane

    2013-01-01

    The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA) and common mental disorders (CMD) on cognitive development of 6 months old infants in a developing country. A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12-20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb 30 years and primiparity had an indirect adverse effect on infants' Bayley cognitive scores. These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries.

  8. Impact on infants' cognitive development of antenatal exposure to iron deficiency disorder and common mental disorders.

    Directory of Open Access Journals (Sweden)

    Thach Duc Tran

    Full Text Available OBJECTIVES: The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA and common mental disorders (CMD on cognitive development of 6 months old infants in a developing country. METHODS: A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12-20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb 30 years and primiparity had an indirect adverse effect on infants' Bayley cognitive scores. CONCLUSIONS: These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries.

  9. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

    Directory of Open Access Journals (Sweden)

    Chatziioannidis Ilias

    2015-01-01

    Full Text Available Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.

  10. Carbohydrate malabsorption syndromes and early signs of mental depression in females.

    Science.gov (United States)

    Ledochowski, M; Widner, B; Sperner-Unterweger, B; Propst, T; Vogel, W; Fuchs, D

    2000-07-01

    Fructose and lactose malabsorption are characterized by impaired duodenal fructose transport or by the deficiency of mucosal lactase, respectively. As a consequence, the nonabsorbed saccharides reach the colon, where they are broken down by bacteria to short fatty acids, CO2, and H2. Bloating, cramps, osmotic diarrhea, and other symptoms of irritable bowel syndrome are the consequence and can be seen in about 50% of carbohydrate malabsorbers. We have previously shown that fructose as well as lactose malabsorption were associated with signs of mental depression. It was therefore of interest to investigate possible interactions between fructose and lactose malabsorption and their influence on the development of signs of depression. In all, 111 otherwise healthy volunteers (81 females and 30 males) with gastrointestinal complaints were analyzed by measuring breath H2 concentrations after an oral dose of 50 g lactose and of 50 g fructose one week apart. They were classified as normals, isolated fructose malabsorbers, isolated lactose malabsorbers, and combined fructose/lactose malabsorbers. All patients filled out a Beck's depression inventory-questionnaire. Twenty-five individuals (22.5%) were neither fructose nor lactose malabsorbers (group 1), 69 (62.2%) were only fructose malabsorbers (group 2), 4 (3.6%) were only lactose malabsorbers (group 3), and 13 (11.7%) presented with fructose and lactose malabsorption together (group 4). Isolated fructose malabsorption and combined fructose/lactose malabsorption was significantly associated with a higher Beck's depression score. Further analysis of the data show that this association was strong in females (P malabsorption and early signs of depression in males. In conclusion, the data confirm that fructose malabsorption may play a role in the development of mental depression in females and additional lactose malabsorption seems to further increase the risk for development of mental depression.

  11. Audiological and Ontological Findings in Acquired Immune-Deficiency Syndrome (AIDS

    Directory of Open Access Journals (Sweden)

    Farzaneh Vadoudfam

    2001-05-01

    Full Text Available The human immunodeficiency virus (HIV is the virus that causes AIDS (acquired immune-deficiency syndrome. Head and neck are the most common sites in contamination with this virus. HIV can affect outer, middle and inner parts of the ear. Changing in the color of the skin, effusion, infection and sudden hearing loss are some types of the audiological and ontological findings in such patients.

  12. Isotope techniques in studies of selenium deficiency and toxicity syndromes in farm animals

    International Nuclear Information System (INIS)

    Giese, W.W.

    1984-01-01

    In a brief review of the Se deficiency syndrome in ruminants, studies using non-isotopic methods are applied to an introductory description of the disease. They include methods currently applied for determining Se deficiency status in feed and in ruminant animals. Detection of potential white muscle disease in lambs and calves is discussed. The application of 75 Se in studies on absorption, tissue distribution and excretion under feeding regimes with different Se levels and partly with addition of SO 4 ions or vitamin E is reviewed. In vitro studies with 75 Se include a description of the 75 Se uptake test with red blood cells, the metabolism of selenite, selenate and selenomethionine in rumen microorganisms, and the distribution of 75 Se in cow's and goat's milk. Methods of Se supplementation in Se-deficient areas are summarized and tests with 75 Se-labelled ruminal pellets in sheep and cattle are described. The Se toxicity syndrome is surveyed with respect to causative agents, symptomatology and gross pathology. Special reference is made to the blind staggers and the alkali disease types of selenosis. Isotope techniques are found to be less frequently applied in studies on Se toxicity than in Se deficiency studies. (author)

  13. Medicine, Morals and Mental Deficiency: The Contribution of Doctors to the Development of Special Education in England.

    Science.gov (United States)

    Potts, Patricia

    1983-01-01

    The medical model of handicaps compartmentalizes and judges handicapped people. Physicians have played a crucial role in diagnosing mental deficiency, explaining its causes, and developing treatment programs in England. The prejudices inherent in the medical model must be discarded in order to meet the educational needs of disabled children. (IS)

  14. Deficient Sleep in Mouse Models of Fragile X Syndrome

    Directory of Open Access Journals (Sweden)

    R. Michelle Saré

    2017-09-01

    Full Text Available In patients with fragile X syndrome (FXS, sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO/Fxr2 heterozygote circadian rhythmicity is affected, but sleep per se has not been examined. We used a home-cage monitoring system to assess total sleep time in both light and dark phases in Fmr1 KO mice at different developmental stages. Fmr1 KOs at P21 do not differ from controls, but genotype × phase interactions in both adult (P70 and P180 groups are statistically significant indicating that sleep in Fmr1 KOs is reduced selectively in the light phase compared to controls. Our results show the emergence of abnormal sleep in Fmr1 KOs during the later stages of brain maturation. Treatment of adult Fmr1 KO mice with a GABAB agonist, R-baclofen, did not restore sleep duration in the light phase. In adult (P70 Fmr1 KO/Fxr2 heterozygote animals, total sleep time was further reduced, once again in the light phase. Our data highlight the importance of the fragile X genes (Fmr1 and Fxr2 in sleep physiology and confirm the utility of these mouse models in enhancing our understanding of sleep disorders in FXS.

  15. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

    NARCIS (Netherlands)

    Peeters, A.C.T.; Kucharekova, M.; Timmermans, J.; Berkmortel, F.W.P.J. van den; Boers, G.H.J.; Nováková, I.R.O.; Egging, D.; Heijer, M. den; Schalkwijk, J.

    2004-01-01

    BACKGROUND: We recently described a new autosomal recessive type of Ehlers-Danlos syndrome (EDS) based on a deficiency of the extracellular matrix protein tenascin-X (TNX). TNX-deficient patients have hypermobile joints, hyperextensible skin and show easy bruising. Because of the reported

  16. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients

    NARCIS (Netherlands)

    Demirdas, S.; Dulfer, E.; Robert, L.; Kempers, M.J.; Beek, D. van de; Micha, D.; Engelen, B.G.M. van; Hamel, B.C.J.; Schalkwijk, J.; Loeys, B.L.; Maugeri, A.; Voermans, N.C.

    2017-01-01

    The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore

  17. Effect of iron deficiency anemia in pregnancy on child mental development in rural China.

    Science.gov (United States)

    Chang, Suying; Zeng, Lingxia; Brouwer, Inge D; Kok, Frans J; Yan, Hong

    2013-03-01

    To determine the impact of iron deficiency anemia (IDA) in pregnancy on young child development. A 2-year follow-up of 850 children born to women who participated in a double-blind cluster randomized controlled trial of prenatal micronutrient supplementation in western rural China. These women were randomly assigned to receive either daily folic acid, iron/folic acid (60 mg iron), or multiple micronutrients (with 30 mg iron) during pregnancy. Children were categorized into the prenatal-IDA and prenatal-non-IDA groups based on the mother's hemoglobin in the third trimester. Each group contained 3 subgroups based on mother's treatment: folic acid, iron/folic acid, and multiple micronutrients. Bayley scales of infant development were administered to the children to assess their development at 3, 6, 12, 18, and 24 months of age. Compared with the prenatal-non-IDA group, the prenatal-IDA group showed a significantly lower mental development index at 12, 18, and 24 months of age. The adjusted mean difference was 5.8 (95% confidence interval [CI], 1.1-10.5), 5.1 (95% CI, 1.2-9.0), and 5.3 (95% CI, 0.9-9.7), respectively. Further analysis showed that the mental development indexes in the prenatal-IDA group and prenatal-non-IDA group were similar with supplementation of iron/folic acid but were significantly lower in the prenatal-IDA group with supplementation of folic acid or multiple micronutrients. Prenatal IDA in the third trimester is associated with mental development of the child. However, prenatal supplementation with sufficient iron protects child development even when the woman's IDA was not properly corrected in pregnancy.

  18. UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

    NARCIS (Netherlands)

    SCHOLTE, FA; BEGEER, JH; VANESSEN, AJ

    A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

  19. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

    Science.gov (United States)

    Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2016-03-05

    Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

  20. Genetics Home Reference: Gillespie syndrome

    Science.gov (United States)

    ... and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia , which is ... Other Names for This Condition aniridia-cerebellar ataxia-intellectual disability aniridia-cerebellar ataxia-mental deficiency aniridia, cerebellar ataxia, ...

  1. Mismatch repair deficiency in Lynch syndrome-associated colorectal adenomas is more prevalent in older patients.

    Science.gov (United States)

    Tanaka, Masahiro; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Taniguchi, Hirokazu; Kanemitsu, Yukihide; Nagino, Masato; Sekine, Shigeki

    2016-08-01

    The aim of this study was to examine the expression of mismatch repair (MMR) proteins in Lynch syndrome (LS)-associated colorectal adenomas and to evaluate their relationship with clinicopathological variables and potential utility in LS screening. We performed immunohistochemistry for MLH1, PMS2, MSH2 and MSH6 in 134 adenomas obtained from 26 genetically confirmed LS patients. MMR deficiency, as determined by loss of any MMR protein, was observed in 113 adenomas (84%). All the MMR-deficient adenomas exhibited homogeneous loss of MMR proteins, which reflected underlying germline mutations. MMR deficiency was more frequent in adenomas obtained from older patients (aged ≥60 years; 81 of 86, 94%), with larger tumour size (>5 mm; 71 of 73, 97%) and with high-grade dysplasia (50 of 51, 98%). Multivariate analyses indicated that increased age and larger tumour size were associated independently with MMR deficiency. This study shows that MMR deficiency is associated significantly with increased age, in addition to two previously reported factors-larger size and high-grade dysplasia. When adenomas are analysed during LS screening, high sensitivity is expected if the adenomas are associated with any of these three factors. © 2016 John Wiley & Sons Ltd.

  2. Small for Gestational Age and Magnesium: Intrauterine magnesium deficiency may induce metabolic syndrome in later life

    Directory of Open Access Journals (Sweden)

    Junji Takaya

    2015-12-01

    Full Text Available Magnesium deficiency during pregnancy as a result of insufficient or low intake of magnesium is common in developing and developed countries. Previous reports have shown that intracellular magnesium of cord blood platelets is lower among small for gestational age (SGA groups than that of appropriate for gestational age (AGA groups, suggesting that intrauterine magnesium deficiency may result in SGA. Additionally, the risk of adult-onset diseases such as insulin resistance syndrome is greater among children whose mothers were malnourished during pregnancy, and who consequently had a low birth weight. In a number of animal models, poor nutrition during pregnancy leads to offspring that exhibit pathophysiological changes similar to human diseases. The offspring of pregnant rats fed a magensium restricted diet have developed hypermethylation in the hepatic 11β-hydroxysteroid dehydrogenase-2 promoter. These findings indicate that maternal magnesium deficiencies during pregnancy influence regulation of non-imprinted genes by altering the epigenetic regulation of gene expression, thereby inducing different metabolic phenotypes. Magnesium deficiency during pregnancy may be responsible for not only maternal and fetal nutritional problems, but also lifelong consequences that affect the offspring throughout their life. Epidemiological, clinical, and basic research on the effects of magnesium deficiency now indicates underlying mechanisms, especially epigenetic processes.

  3. Ferric carboxymaltose in patients with restless legs syndrome and nonanemic iron deficiency: A randomized trial.

    Science.gov (United States)

    Trenkwalder, Claudia; Winkelmann, Juliane; Oertel, Wolfgang; Virgin, Garth; Roubert, Bernard; Mezzacasa, Anna

    2017-10-01

    Compromised iron status is important in restless legs syndrome pathophysiology. We compared the efficacy and tolerability of ferric carboxymaltose (single intravenous dose) versus placebo for restless legs syndrome treatment in iron-deficient nonanemic patients. Patients with moderate to severe restless legs syndrome and serum ferritin Restless Legs Syndrome Severity Scale score from baseline to week 4 was the primary end point; week 12 was a secondary end point. Ferric carboxymaltose treatment (n = 59) led to nonsignificant improvement over placebo (n = 51) in International Restless Legs Syndrome Severity Scale score at week 4 (difference [95% confidence interval], -2.5 [-5.93 to 1.02], P = 0.163), reaching significance by week 12 (-4.66 [-8.59 to -0.73], P = 0.021). In patients who responded to treatment, ferric carboxymaltose may require more time to stabilize restless legs syndrome than previously assumed. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

  4. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

    NARCIS (Netherlands)

    van der Klift, Heleen M.; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J.; Gille, Hans J. J. P.; Redeker, Bert E. J. W.; Tiersma, Yvonne; Zonneveld, José B. M.; García, Encarna Gómez; Letteboer, Tom G. W.; Olderode-Berends, Maran J. W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J.; ten Broeke, Sanne W.; Hes, Frederik J.; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J. L.; Wijnen, Juul T.; Tops, Carli M. J.

    2016-01-01

    Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are

  5. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

    NARCIS (Netherlands)

    van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

    2016-01-01

    Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA and RNA-based strategies are applied to

  6. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...... basal ganglia lesions typical of Leigh syndrome....

  7. Implicit Memory in Aging Adults with Mental Retardation with and without Down Syndrome.

    Science.gov (United States)

    Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Kittler, Phyllis; Silverman, Wayne

    2003-01-01

    This study examined effects of age and IQ on implicit memory in adults with mild or moderate mental retardation with (n=48) and without (n=46) Down syndrome. Although implicit memory showed an age-associated difference and IQ-associated variation in adults with mental retardation, these effects were relatively small, which supported theories…

  8. Rett Syndrome Symptomatology of Institutionalized Adults with Mental Retardation: Comparison of Males and Females.

    Science.gov (United States)

    Burd, Larry; And Others

    1991-01-01

    The study of 297 institutionalized adults with mental retardation found no symptom of Rett syndrome occurred more frequently in males than in females and no single cluster of symptoms appeared to differentiate males from females. Only females were found to meet the necessary criteria for diagnosis of Rett syndrome. (Author/DB)

  9. Mental Health Problems in Adults with Down Syndrome and Their Association with Life Circumstances

    Science.gov (United States)

    Mallardo, Mariarosa; Cuskelly, Monica; White, Paul; Jobling, Anne

    2014-01-01

    This study focused on current life circumstances, previous life events, and engagement with productive and enjoyable activities. It examined the association of these variables with mental health problems and mood in a cohort of young adults with Down syndrome. Participants were 49 adults with Down syndrome (age range 20-31 years) and their…

  10. Fragile X Mental Retardation Syndrome: Structure of the KH1-KH2 Domains of Fragile X Mental Retardation Protein

    Energy Technology Data Exchange (ETDEWEB)

    Valverde,R.; Poznyakova, I.; Kajander, T.; Venkatraman, J.; Regan, L.

    2007-01-01

    Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome. We show that the Ile304Asn mutation both perturbs the structure and destabilizes the protein.

  11. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Crowley, Blaine; Ruffner, Melanie; McDonald McGinn, Donna M; Sullivan, Kathleen E

    2018-01-17

    The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The relationship of the immunodeficiency to the deletion breakpoints has been understudied due to the infrequent analysis of people carrying smaller deletions. This manuscript will review the immune deficiency in 22q11.2 deletion syndrome and describe differences in the T cell counts related to the deletion breakpoints. Distal, non-TBX1 inclusive deletions, were found to be associated with better T cell counts. Another new finding is the relative preservation of T cell counts in those patients with a 22q11.2 duplication. © 2018 Wiley Periodicals, Inc.

  12. Relationship between Motor and Mental Age in Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Hossein Sourtiji

    2010-04-01

    Full Text Available Objectives: Down syndrome (DS is the most common multiple congenital anomaly syndrome associated with a developmental disability. Children with Down syndrome have delay in both motor and mental age. This study carried out to explore relationship between mental and motor age of children with DS. Methods: A cross-sectional study was conducted on 60 participants with DS (5 to 7 years old using randomized method of sampling based on inclusion and exclusion criteria. Mental and motor age of participants was measured by Peabody Developmental Motor Scales and Goodenough Draw A Man Test. Results: Test result was analyzed for total, gross and fine motor age and mental age. Results were interpreted by the statistical method of pearson correlation analysis. There was significant correlation between mental age and total motor age based on pearson correlation coefficient (r=0.93. Discussion: Results of the study showed that there were strong positive correlations between gross, fine and total motor age, and mental age of children with Down syndrome and suggest the hypothesis that simultaneous utilization of motor and mental practice through rehabilitation programs is more effective than mere practice.

  13. Importance of donor history of restless leg syndrome and pica to asses iron deficiency.

    Science.gov (United States)

    Singh, Ashutosh; Chaudhary, Rajendra; Sonker, Atul; Pandey, Hem Chandra

    2016-04-01

    Iron deficiency is associated with neuropsychological changes such as restless leg syndrome (RLS), pica, hair loss, etc. Our objective was to assess usefulness of history of RLS and pica in relation with iron stores in blood donors. During medical examination, apart from routine questionnaires specific history of RLS and pica was elicited. Along with hemoglobin markers of iron deficiency such as s. iron, s. ferritin and mean corpuscular volume were analyzed. Out of 400 blood donors 41 had h/o pica/RLS/pagophagia. Positive and negative predictive value of above history is 73.17% and 80.5% respectively. We recommend the use of a screening question for pica and/or RLS in blood donor questionnaire. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Cryptococcal meningitis and cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome.

    Science.gov (United States)

    Bahls, F; Sumi, S M

    1986-01-01

    A 34-year-old homosexual male developed cryptococcal meningitis as the initial manifestation of Acquired Immune Deficiency Syndrome (AIDS). With antifungal therapy he improved. Six weeks later he developed focal motor seizures and progressive hemiplegia. Computer assisted tomography revealed multiple, ring-enhancing, low density lesions. The patient expired and at necropsy he was found to have multiple toxoplasma brain abscesses as well as chronic cryptococcal meningitis. This case demonstrates that in a patient with AIDS with pre-existing central nervous system infection who develops new neurological symptoms the possibility of a second and potentially treatable infection must be considered and its diagnosis pursued vigorously. Images PMID:3958746

  15. Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature

    International Nuclear Information System (INIS)

    Nash, R.; Shojania, A.M.

    1987-01-01

    The hematological aspects of the original case of Rhmod are reported. The subject, as in other reported cases, had a chronic hemolytic anemia characterized by stomatocytosis, reduced osmotic fragility, and abnormal autohemolysis correctable with the addition of glucose. The 51 Cr red cell survival studies showed the spleen to be the preferential site of red cell destruction and splenectomy produced a dramatic improvement in red cell survival. The topic of Rh deficiency syndrome (Rhnull and Rhmod) is briefly reviewed with regard to the number of cases reported, to genetic aspects, to the hematological findings, and to the results of splenectomy

  16. Carnitine Deficiency and Oxidative Stress Provoke Cardiotoxicity in an Ifosfamide-Induced Fanconi Syndrome Rat Model

    Directory of Open Access Journals (Sweden)

    Mohamed M. Sayed-Ahmed

    2010-01-01

    Full Text Available In addition to hemorrhagic cystitis, Fanconi Syndrome is a serious clinical side effect during ifosfamide (IFO therapy. Fanconi syndrome is a generalized dysfunction of the proximal tubule which is characterized by excessive urinary excretion of glucose, phosphate, bicarbonate, amino acids and other solutes excreted by this segment of the nephron including L-carnitine. Carnitine is essential cofactor for β-oxidation of long-chain fatty acids in the myocardium. IFO therapy is associated with increased urinary carnitine excretion with subsequent secondary deficiency of the molecule. Cardiac abnormalities in IFO-treated cancer patients were reported as isolated clinical cases. This study examined whether carnitine deficiency and oxidative stress, secondary to Fanconi Syndrome, provoke IFO-induced cardiomyopathy as well as exploring if carnitine supplementation using Propionyl-L-carnitine (PLC could offer protection against this toxicity. In the current study, an animal model of carnitine deficiency was developed in rats by D-carnitine-mildronate treatment Adult male Wistar albino rats were assigned to one of six treatment groups: the first three groups were injected intraperitoneally with normal saline, D-carnitine (DC, 250 mg/kg/day combined with mildronate (MD, 200 mg/kg/day and PLC (250 mg/kg/day, respectively, for 10 successive days. The 4th, 5th and 6th groups were injected with the same doses of normal saline, DC-MD and PLC, respectively for 5 successive days before and 5 days concomitant with IFO (50 mg/kg/day. IFO significantly increased serum creatinine, blood urea nitrogen (BUN, urinary carnitine excretion and clearance, creatine phosphokinase isoenzyme (CK-MB, lactate dehydrogenase (LDH, intramitochondrial acetyl-CoA/CoA-SH and thiobarbituric acid reactive substances (TBARS in cardiac tissues and significantly decreased adenosine triphosphate (ATP and total carnitine and reduced glutathione (GSH content in cardiac tissues. In carnitine

  17. Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus.

    Science.gov (United States)

    Mayo, Mary Catherine; Deng, Jane C; Albores, Jeffrey; Zeidler, Michelle; Harper, Ronald M; Avidan, Alon Y

    2015-09-15

    We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis. © 2015 American Academy of Sleep Medicine.

  18. Posterior Tibial Arterial System Deficiency Mimicking Chronic Exertional Compartment Syndrome: A Case Report.

    Science.gov (United States)

    Lavery, Kyle P; Parcells, Bertrand W; Hosea, Timothy

    2016-01-01

    A 15-year-old female competitive high school basketball player presented as an outpatient with a 3-month history of bilateral exertional calf pain. Patient history and compartment pressure measurements were consistent with the diagnosis of chronic exertional compartment syndrome, and the patient underwent bilateral fasciotomies. Postoperatively, her symptoms recurred and she was found to have a deficient posterior tibial arterial system bilaterally, as confirmed on advanced imaging. We advocate the careful consideration of vascular etiologies in athletes who present with exertional leg pain.

  19. [Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].

    Science.gov (United States)

    Yoshida, K; Yanagisawa, N

    1993-09-01

    Recent advances in the molecular study of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B) are reviewed. Until now, 14 different mutations have been found in the beta-galactosidase gene in patients with this disorder. Gene mutations are heterogeneous, but common and specific mutations have been identified for three types of protracted clinical course; 51Ile-->Thr mutation for Japanese adult/chronic GM1-gangliosidosis, 201Arg-->Cys for Japanese late infantile/juvenile GM1-gangliosidosis and 273Trp-->Leu for Caucasian Morquio syndrome type B. These phenotype-specific mutant genes produce mutant proteins with significant residual enzyme activity, whereas mutant proteins associated with infantile GM1-gangliosidosis patients show complete loss of enzyme activity. The phenotypic variations of this disorder may be related to different mode of intracellular processing and turnover of mutant enzyme proteins.

  20. 46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5-Reductase-2 Deficiency, or 17-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

    Directory of Open Access Journals (Sweden)

    Mazur Tom

    2009-08-01

    Full Text Available Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5- reductase-2 deficiency, or 17-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

  1. Tenascin-x deficiency mimics ehlers-danlos syndrome in mice through alteration of collagen deposition

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    Mao, J.R.; Taylor, G.; Dean, W.B.; Wagner, D.R.; Afzal, V.; Lotz, J.C.; Rubin, E.M.; Bristow, J.

    2002-03-01

    Tenascin-X is a large extracellular matrix protein of unknown function1-3. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome4,5, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens6. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme7-14, we suggested that tenascin-X might regulate collagen synthesis or deposition15. To test this hypothesis, we inactivated Tnxb in mice. Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin. The skin of Tnxb-/- mice was histologically normal, but its collagen content was significantly reduced. At the ultrastructural level, collagen fibrils of Tnxb-/- mice were of normal size and shape, but the density of fibrils in their skin was reduced, commensurate with the reduction in collagen content. Studies of cultured dermal fibroblasts showed that although synthesis of collagen I by Tnxb-/- and wildtype cells was similar, Tnxb-/- fibroblasts failed to deposit collagen I into cell-associated matrix. This study confirms a causative role for TNXB in human Ehlers-Danlos syndrome and suggests that tenascin-X is an essential regulator of collagen deposition by dermal fibroblasts.

  2. Adenosine receptors as markers of brain iron deficiency: Implications for Restless Legs Syndrome

    Science.gov (United States)

    Quiroz, César; Gulyani, Seema; Ruiqian, Wan; Bonaventura, Jordi; Cutler, Roy; Pearson, Virginia; Allen, Richard P.; Earley, Christopher J.; Mattson, Mark P.; Ferré, Sergi

    2016-01-01

    Deficits of sensorimotor integration with periodic limb movements during sleep (PLMS) and hyperarousal and sleep disturbances in Restless Legs Syndrome (RLS) constitute two pathophysiologically distinct but interrelated clinical phenomena, which seem to depend mostly on alterations in dopaminergic and glutamatergic neurotransmission, respectively. Brain iron deficiency is considered as a main pathogenetic mechanism in RLS. Rodents with brain iron deficiency represent a valuable pathophysiological model of RLS, although they do not display motor disturbances. Nevertheless, they develop the main neurochemical dopaminergic changes found in RLS, such as decrease in striatal dopamine D2 receptor density. On the other hand, brain iron deficient mice exhibit the characteristic pattern of hyperarousal in RLS, providing a tool to find the link between brain iron deficiency and sleep disturbances in RLS. The present study provides evidence for a role of the endogenous sleep-promoting factor adenosine. Three different experimental preparations, long-term (22 weeks) severe or moderate iron-deficient (ID) diets (3- or 7-ppm iron diet) in mice and short-term (3 weeks) severe ID diet (3-ppm iron diet) in rats, demonstrated a significant downregulation (Western blotting in mouse and radioligand binding saturation experiments in rat brain tissue) of adenosine A1 receptors (A1R) in the cortex and striatum, concomitant to striatal D2R downregulation. On the other hand, the previously reported upregulation of adenosine A2A receptors (A2AR) was only observed with severe ID in both mice and rats. The results suggest a key role for A1R downregulation in the PLMS and hyperarousal in RLS. PMID:27600688

  3. Adenosine receptors as markers of brain iron deficiency: Implications for Restless Legs Syndrome.

    Science.gov (United States)

    Quiroz, César; Gulyani, Seema; Ruiqian, Wan; Bonaventura, Jordi; Cutler, Roy; Pearson, Virginia; Allen, Richard P; Earley, Christopher J; Mattson, Mark P; Ferré, Sergi

    2016-12-01

    Deficits of sensorimotor integration with periodic limb movements during sleep (PLMS) and hyperarousal and sleep disturbances in Restless Legs Syndrome (RLS) constitute two pathophysiologically distinct but interrelated clinical phenomena, which seem to depend mostly on alterations in dopaminergic and glutamatergic neurotransmission, respectively. Brain iron deficiency is considered as a main pathogenetic mechanism in RLS. Rodents with brain iron deficiency represent a valuable pathophysiological model of RLS, although they do not display motor disturbances. Nevertheless, they develop the main neurochemical dopaminergic changes found in RLS, such as decrease in striatal dopamine D 2 receptor density. On the other hand, brain iron deficient mice exhibit the characteristic pattern of hyperarousal in RLS, providing a tool to find the link between brain iron deficiency and sleep disturbances in RLS. The present study provides evidence for a role of the endogenous sleep-promoting factor adenosine. Three different experimental preparations, long-term (22 weeks) severe or moderate iron-deficient (ID) diets (3- or 7-ppm iron diet) in mice and short-term (3 weeks) severe ID diet (3-ppm iron diet) in rats, demonstrated a significant downregulation (Western blotting in mouse and radioligand binding saturation experiments in rat brain tissue) of adenosine A 1 receptors (A1R) in the cortex and striatum, concomitant to striatal D2R downregulation. On the other hand, the previously reported upregulation of adenosine A 2A receptors (A2AR) was only observed with severe ID in both mice and rats. The results suggest a key role for A1R downregulation in the PLMS and hyperarousal in RLS. Published by Elsevier Ltd.

  4. Inclusão e fracasso escolar: o que pensam os alunos com deficiência mental?

    Directory of Open Access Journals (Sweden)

    Enicéia Gonçalves Mendes

    2009-04-01

    Full Text Available O objetivo deste estudo é identificar a percepção dos alunos com deficiência mental sobre a aprendizagem do conteúdo curricular numa classe comum de uma escola regular. Participaram do estudo 10 alunos com deficiência mental, egressos de espaços da Educação Especial e matriculados nas classes comuns das escolas regulares. O procedimento de coleta de dados envolveu entrevistas com os 10 alunos. A análise dos dados para as respostas das entrevistas foi feita a partir da análise de conteúdo. Os resultados mostram que os alunos, apesar de evidenciarem gostar da escola, afirmam ter dificuldades com a aprendizagem do conteúdo curricular, especialmente porque não há adequação do ensino às necessidades dos alunos. Os dados indicam a importância de que as escolas organizem novas situações de ensino-aprendizagem que de fato atendam a diversidade, além do sistema educacional rever a produção do fracasso escolar para que de fato possamos desenvolver práticas pedagógicas inclusivas bem-sucedidas. Palavras-chave: Educação Especial. Inclusão Escolar. Deficiência Mental.

  5. Vertical rectus muscle transposition for correcting abduction deficiency in Duane's syndrome type 1 and sixth nerve palsy.

    Science.gov (United States)

    Yazdian, Ziaeddin; Rajabi, Mohammad Taher; Ali Yazdian, Mohammad; Rajabi, Mohammad Bagher; Akbari, Mohammad Reza

    2010-01-01

    To report the clinical outcome and complications of the Scott Foster procedure for treating abduction deficiency in patients with Duane's syndrome type 1 and sixth nerve palsy. A retrospective, interventional case series included 62 consecutive patients (62 eyes: 38 eyes with Duane's syndrome and 24 eyes with sixth nerve palsy) who underwent the Scott Foster procedure for treatment of abduction deficiency. The main outcome measures were deviation, face turn, and abduction deficiency. In patients with sixth nerve palsy, mean distance deviation improved from 44.7+/-7.2 prism diopters (PD) before surgery to 12.5+/-4.0 PD after surgery (Psixth nerve palsy. Mean abduction deficiency improved from -4 to -2 (Psixth nerve palsy. Copyright (c) 2010, SLACK Incorporated.

  6. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

    Science.gov (United States)

    Meuwissen, Marije E C; Schot, Rachel; Buta, Sofija; Oudesluijs, Grétel; Tinschert, Sigrid; Speer, Scott D; Li, Zhi; van Unen, Leontine; Heijsman, Daphne; Goldmann, Tobias; Lequin, Maarten H; Kros, Johan M; Stam, Wendy; Hermann, Mark; Willemsen, Rob; Brouwer, Rutger W W; Van IJcken, Wilfred F J; Martin-Fernandez, Marta; de Coo, Irenaeus; Dudink, Jeroen; de Vries, Femke A T; Bertoli Avella, Aida; Prinz, Marco; Crow, Yanick J; Verheijen, Frans W; Pellegrini, Sandra; Bogunovic, Dusan; Mancini, Grazia M S

    2016-06-27

    Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families. Ex vivo brain autopsy material demonstrated innate immune inflammation with calcification and polymicrogyria. In vitro, patient fibroblasts displayed severely enhanced IFN-induced inflammation, which was completely rescued by lentiviral transduction of USP18. These findings add USP18 deficiency to the list of genetic disorders collectively termed type I interferonopathies. Moreover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the response to type I IFNs. Therapeutically, this places USP18 as a promising target not only for genetic but also acquired IFN-mediated CNS disorders. © 2016 Meuwissen et al.

  7. MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome

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    Xu-Rui Jin

    2017-10-01

    Full Text Available Rett syndrome (RTT is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2 gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the pathogenesis of RTT. Mice that are MeCP2-null specifically in glial cells showed similar behavioral and/or neuronal abnormalities as those found in MeCP2-null mice, a mouse model of RTT. MeCP2 deficiency in astrocytes impacts the expression of glial intermediate filament proteins such as fibrillary acidic protein (GFAP and S100 and induces neuron toxicity by disturbing glutamate metabolism or enhancing microtubule instability. MeCP2 deficiency in oligodendrocytes (OLs results in down-regulation of myelin gene expression and impacts myelination. While MeCP2-deficient microglia cells fail in response to environmental stimuli, release excessive glutamate, and aggravate impairment of the neuronal circuit. In this review, we mainly focus on the progress in determining the role of MeCP2 in glial cells involved in RTT, which may provide further insight into a therapeutic intervention for RTT.

  8. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome.

    Science.gov (United States)

    Nurden, Paquita; Jandrot-Perrus, Martine; Combrié, Robert; Winckler, Joelle; Arocas, Veronique; Lecut, Christelle; Pasquet, Jean-Max; Kunicki, Thomas J; Nurden, Alan T

    2004-07-01

    We report a novel case of gray platelet syndrome (GPS) where a severe deficiency of the platelet collagen receptor, glycoprotein (GP) VI, accompanies classical symptoms of a low platelet count and platelets lacking alpha-granules. Dense granules were normally present. Platelet aggregation with collagen was severely decreased, as was the response to convulxin (Cvx), a GPVI agonist. Quantitative analysis of GPVI using fluorescein isothiocyanate (FITC)-Cvx in flow cytometry showed its virtual absence on the patient's platelets. The GPVI deficiency was confirmed using monoclonal antibodies in Western blotting and in immunogold labeling on frozen thin sections where internal pools of GPVI were confirmed for normal platelets. The Fc receptor gamma-chain, constitutively associated with GPVI in normal platelets, was present in subnormal amounts, and the phospholipase C gamma 2-dependent activation pathway appeared to function normally. No autoantibodies to GPVI were found in the patient's serum using monoclonal antibody immobilization of platelet antigen (MAIPA). Sequencing of coding regions of the GPVI gene failed to show abnormalities, and mRNA for GPVI was present in the patient's platelets, pointing to a probable acquired defect in GPVI expression. Our results may provide a molecular explanation for the subgroup of patients with severely deficient collagen-induced platelet aggregation as previously described for GPS in the literature.

  9. Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome?

    Directory of Open Access Journals (Sweden)

    Moreno-Reyes Rodrigo

    2009-04-01

    Full Text Available Abstract Background About 20–30% of persons with HIV infection, especially those living in countries with limited resources, experience an immune reconstitution inflammatory syndrome (IRIS after starting antiretroviral treatment. The active form of vitamin D, 1,25-dihydroxyvitamin D, is a key player in the clearance of pathogens and influences the level of inflammation and macrophage activation. Presentation of the hypothesis We hypothesize that low availability of 1,25-dihydroxyvitamin D, either due to vitamin D deficiency or due to polymorphisms in the vitamin D receptor or in its activating/inactivating enzymes, contributes to the appearance of IRIS. Furthermore, drug interactions with the enzymatic pathways of vitamin D could favour the development of IRIS. Testing the hypothesis Our hypothesis could be explored by a case-control study to assess the prevalence of vitamin D deficiency in HIV-infected patients on antiretroviral treatment who develop and do not develop IRIS. Implications of the hypothesis If the role of vitamin D in IRIS is confirmed, we would be able to screen patients at risk for IRIS by screening for vitamin D deficiency. After confirmation by means of a clinical trial, vitamin D supplementation could be a cheap and safe way to reduce the incidence of IRIS.

  10. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

    Science.gov (United States)

    Kosho, Tomoki

    2016-02-01

    Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

  11. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  12. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

    Science.gov (United States)

    Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

    2015-11-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  13. The relationship between mental disorders and irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    seyed kamal Solati dehkordi

    2007-01-01

    Conclusion: There is a strong relationship between psychological factors and IBS. Mental abnormalities such as depression, distress and somatic symptoms are prevalent among these individuals. So, paying attention to these mental disorders and use of non-medicinal treatment modalities along with medicinal treatments can lead to the reduction of treatment expense and better symptomatic therapy.

  14. Mental illness, violence and delusional misidentifications: the role of Capgras' syndrome in matricide.

    Science.gov (United States)

    Carabellese, Felice; Rocca, Gabriele; Candelli, Chiara; Catanesi, Roberto

    2014-01-01

    Violent behavior has frequently been reported in cases of Capgras' delusion, a misidentification syndrome characterized by the false belief that imposters have replaced people familiar to the individual. To better understand the relationship between Capgras' syndrome and violence. After a brief overview of the scientific knowledge of delusional misidentification syndromes, we present two cases of psychotic sons suffering from this kind of delusion who killed their mothers and we analyzed the phenomenology of Capgras' delusion in-depth, focusing on the role of this syndrome in the etiology of violence. Capgras' syndrome may be a specific risk factor for violence towards others, particularly the murder of the delusionally misidentified person. Looking for the signs of Capgras' syndrome may be crucial to assessing the risk of violence in mentally disordered patients. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  15. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

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    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum.

  16. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

    Science.gov (United States)

    Westdorp, Harm; Kolders, Sigrid; Hoogerbrugge, Nicoline; de Vries, I Jolanda M; Jongmans, Marjolijn C J; Schreibelt, Gerty

    2017-09-10

    Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations in MMR genes. This syndrome is characterized by the development of childhood cancer. Patients with CMMRD are at extremely high risk of developing multiple cancers including hematological, brain and intestinal tumors. Mutations in MMR genes impair DNA repair and therefore most tumors of patients with CMMRD are hypermutated. These mutations lead to changes in the translational reading frame, which consequently result in neoantigen formation. Neoantigens are recognized as foreign by the immune system and can induce specific immune responses. The growing evidence on the clinical efficacy of immunotherapies, such as immune checkpoint inhibitors, offers the prospect for treatment of patients with CMMRD. Combining neoantigen-based vaccination strategies and immune checkpoint inhibitors could be an effective way to conquer CMMRD-related tumors. Neoantigen-based vaccines might also be a preventive treatment option in healthy biallelic MMR mutation carriers. Future studies need to reveal the safety and efficacy of immunotherapies for patients with CMMRD. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

  17. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

    Science.gov (United States)

    Pearson, Toni S; Akman, Cigdem; Hinton, Veronica J; Engelstad, Kristin; De Vivo, Darryl C

    2013-04-01

    Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. Absence epilepsy and other idiopathic generalized epilepsy syndromes may occur with seizure onset in childhood or adulthood. A number of patients present predominantly with movement disorders, sometimes without any accompanying seizures. In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. A clue to the diagnosis in patients with paroxysmal symptoms may be the triggering of episodes during fasting or exercise. Intellectual impairment may range from severe to very mild. Awareness of the broad range of potential clinical phenotypes associated with Glut1 DS will facilitate earlier diagnosis of this treatable neurologic condition. The ketogenic diet is the mainstay of treatment and nourishes the starving symptomatic brain during development.

  18. Necessidades de saúde psicológica em crianças com deficiência mental

    Directory of Open Access Journals (Sweden)

    Maria das Graças Araújo

    Full Text Available O encaminhamento de crianças com deficiência mental para o psicólogo provém, sobretudo, da preocupação com a adequação de suas condutas às expectativas sociais em detrimento de sua saúde mental e seu bem-estar. Neste trabalho, buscou-se identificar necessidades de saúde psicológica em crianças com deficiência mental, com indicação prévia de psicoterapia, para posterior análise do preparo do psicólogo para atender essas necessidades. A pesquisa foi realizada em escola especial pertencente à rede pública, na cidade de Aracaju. A amostra foi constituída por sete crianças, de sete a dez anos de idade, de ambos os sexos, com escolaridade correspondente à pré-alfabetização. Utilizou-se a observação participante para a coleta de dados, sistematizados por meio de análise de conteúdo. No grupo estudado, os resultados apontaram para a prevalência das necessidades de amor e pertencimento, seguida das necessidades de crescimento, dentro da hierarquia das necessidades humanas básicas descritas por Maslow.

  19. [Retrospective analysis of risk factors in 900 patients with ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome in Wuhan District].

    Science.gov (United States)

    Qiu, Xin; Wang, Kai-xin; Chen, Guo-hua

    2011-11-01

    To analyze the correlation between risk factors and ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome. Totally 900 patients of the two syndrome types were recruited. Risk factors correlated to ischemic cerebral stroke such as gender, age, time of onset, site of infarction, tongue proper, tongue fur, pulse picture, hypertension, diabetes, past stroke history, hyperlipidemia, hematocrit, smoking, drinking, genetic factor, blood type, complications were analyzed using Chi-square test and non-conditional Logistic regression analysis. Statistical significance existed between the two syndrome types in age (X2 = 8.2392, P = 0.0413), hyperlipidemia (X2 = 4.8386, P = 0.0278), tongue proper (X2 = 7.9470, P = 0.0048), and tongue fur (X2 = 4.3298, P = 0.0375). Statistical significance existed between the two syndrome types in hyperlipidemia, tongue proper, and tongue fur, and their OR value was 0.699 (P = 0.0282), 0.332 (P =0.0071), and 0.667 (P = 0.0382) respectively. The OR value of the past stroke history was 3.226 (P = 0.0314), that of complications 0.203 (P = 0.0705), and that of anterior circulation infarction 0.214 (P = 0.0098). Among different ages groups, the constituent ratio of qi deficiency blood stasis syndrome was obviously higher than that of wind-phlegm collateral obstruction syndrome. Besides, patients of qi deficiency blood stasis syndrome were liable to suffer from hyperlipidemia, anterior circulation infarction, and complications. The age, blood lipid levels, site of infarction, complications are closely correlated with Chinese syndrome types of ischemic cerebral stroke, which can provide objective indices for typing ischemic cerebral stroke.

  20. Effect of Iron Deficiency Anemia in Pregnancy on Child Mental Development in Rural China

    NARCIS (Netherlands)

    Chang, S.; Zeng, L.M.; Brouwer, I.D.; Kok, F.J.; Yan, H.

    2013-01-01

    In humans, the brain growth spurt begins in the last trimester of pregnancy and extends through the first 2 years of life. Studies show poor cognitive and motor development among children who have iron deficiency anemia in infancy. Prenatal iron deficiency anemia in the third trimester affects child

  1. Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Timshel, Susanne; Carlsen Lunding, Jytte Merete

    2014-01-01

    From intellectual disability to new treatment modalities of fragile X syndrome: Ugeskr Læger 2014;176:V06130350 In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form...... of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine...

  2. Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Timshel, Susanne; Lunding, Jytte

    2014-01-01

    In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological...... mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome....

  3. DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome

    NARCIS (Netherlands)

    Campeau, Philippe M.; Hennekam, Raoul C.; Aftimos, Salim; Banka, Siddharth; Begleiter, Michael L.; Bilo, Leonilda; Blair, Edward; Burrage, Lindsay C.; Liu, David S.; de Bie, Isabelle; Félix, Têmis Maria; Giltay, Jacques C.; Gibbs, Richard A.; Giuliano, Fabienne; Hadzsiev, Kinga; Hori, Mutsuki; Kariminejad, Ariana; Kayserili, Hülya; Kerr, Bronwyn; Lee, Brendan H.; Lu, James T.; Male, Alison; Meenakshi, Girish; Mey, Antje; Murray, Mitzi L.; Nair, Lal D. V.; Nampoothiri, Sheela; Newman, William G.; Peluso, Silvio; Peters, Heidi; Powell, R.; Repetto, Gabriela M.; Rump, Patrick; Santos-Simarro, Fernando; Stewart, Fiona; van Bever, Yolande; van den Ende, Jenneke; Wieczorek, Dagmar; Wisniewska, Marzena; Sisodiya, Sanjay M.

    2014-01-01

    DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have

  4. C syndrome with skeletal anomalies, mental retardation, eyelid ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2016-02-18

    Feb 18, 2016 ... trisomy [19], 3q trisomy [16], distal 3q trisomy with deletion of distal 3p [20], and inversion in chromosome 3 [21]. Chinen et al. [22] described a patient with a severe Opitz trigono- cephaly C syndrome phenotype and balanced reciprocal translocation t(3; 18) (q13.13; q12.1). C syndrome is inherited in an ...

  5. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

    NARCIS (Netherlands)

    van Ommen, C. H.; Peters, M.; Barth, P. G.; Vreken, P.; Wanders, R. J.; Jaeken, J.

    2000-01-01

    An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome

  6. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

    NARCIS (Netherlands)

    Bosch, H. van den; Schutgens, R.B.H.; Romeyn, G.J.; Wanders, R.J.A.; Schrakamp, G.; Heymans, H.S.A.

    1984-01-01

    We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA: dihydroxyacetone phosphate acyltransferase in

  7. Chest radiographs in acquired antibody deficiency syndrome with chronic granulomatous inflammation

    International Nuclear Information System (INIS)

    Qaiyumi, S.A.A.; Peest, D.; Galanski, M.; Medizinische Hochschule Hannover

    1990-01-01

    Ten cases of acquired antibody deficiency syndrome with chronic granulomatous infection were diagnosed in our hospital during the past 10 years. We were able to perform a retrospective analysis of the initial and follow-up chest radiographs in 8 of these patients. The following pathological findings could be demonstrated: 1. increased bronchovascular markings in the basal lung fields, 2. reticular densities in the middle and basal lung fields, 3. confluent nodular densities of varying size in the periphery of the basal and middle fields, 4. pulmonary infiltrates in the middle and lower lobes, 5. hilar node enlargement of moderate extent. Findings 2, 3 and 5 completely disappeared under steroid therapy whereas 1 showed only partial recovery. If both the radiologic and serologic findings are considered, it is possible to differentiate this disease from sarcoidosis. (orig.) [de

  8. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    DEFF Research Database (Denmark)

    Bodo, Sahra; Colas, Chrystelle; Buhard, Olivier

    2015-01-01

    BACKGROUND & AIMS: Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas...... or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors...... in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. METHODS: We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients...

  9. Self-induced vomiting in X-linked {alpha}-thalassemia/mental retardation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kurosawa, Kenji; Akatsuka, Akira; Ochiai, Yukikatsu [Jikei Univ. School of Medicine, Tokyo (Japan)] [and others

    1996-06-14

    This report poses the question of whether the vomiting observed in X-linked {alpha}-thalassemia/mental retardation syndrome could be self-induced. The authors present a case history which seems to support this hypothesis. 5 refs., 1 fig.

  10. Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

    Directory of Open Access Journals (Sweden)

    Sang Soo Lee

    2017-03-01

    Full Text Available Growth hormone (GH is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD caused by pituitary stalk interruption syndrome (PSIS. The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD. Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.

  11. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    Science.gov (United States)

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis. Copyright 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  12. A rare case of Silver–Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

    Science.gov (United States)

    Prasad, Namburi Rajendra; Reddy, Ponnala Amaresh; Karthik, T. S.; Chakravarthy, Mithun; Ahmed, Faizal

    2012-01-01

    Introduction: Silver–Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Background: We are presenting a case of SRS with growth hormone (GH) deficiency and urogenital abnormalities. Case Report: A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (hemihypertrophy on the right side. His height was 119 cm (<3rdcentile) and weight was 18 kg which were low (<3rdcentile) as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m2) showed low GH levels at 30′, 60′, and 90′ were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA) showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/year. Conclusion: Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial. PMID:23565409

  13. Os pais e seu filho portador de necessidades especiais - deficiência mental:um encontro inesperado

    OpenAIRE

    Fernando Antônio de Barros Góes

    2004-01-01

    Esta pesquisa teve por objetivo estudar as representações psíquicas no pai e/ou na mãe do filho portador de necessidades especiais - deficiência mental, e os conseqüentes sentimentos de rejeição/aceitação experimentados por esses pais, nesses casos. Foram analisados, especificamente, os afetos e os comportamentos conscientes e inconscientes dos pais, relacionados a essas representações, dentre os quais, assinalaram-se: o desejo de morte, o sentimento de culpa, o sentimento de inferioridade, a...

  14. Metabolic syndrome in antipsychotic naive African patients with severe mental illness in usual care.

    Science.gov (United States)

    Saloojee, Shamima; Burns, Jonathan K; Motala, Ayesha A

    2017-04-12

    To determine the prevalence and incidence of metabolic syndrome in individuals with a first episode of severe mental illness from South Africa. Antipsychotic naïve study subjects with a first episode of severe mental illness and control subjects were recruited at baseline for a prospective study. Individuals without metabolic syndrome at baseline were followed up for 12 months after antipsychotic medication was initiated. Metabolic syndrome was determined at baseline and at the 12-month follow-up using the Joint Interim Statement criteria. At baseline, the 67 study (M:F; 48:19) and 67 control subjects (M:F; 48:19) had a mean age of 22.8 (±3.7) and 23.3 (±2.6) years (P = .4), respectively. The majority were of black African ethnicity (97%) and 82% were diagnosed with schizophrenia. There was no difference in the prevalence of metabolic syndrome (4.5%) or any of the individual components between the study and control group prior to the initiation of antipsychotics. Of the 64 study subjects without metabolic syndrome at baseline, only 36 (M:F; 25:11) completed the 12-month follow-up (response rate 56.3%) and 2 subjects developed metabolic syndrome .The incidence of metabolic syndrome was 5.5% with a significant increase in the elevated waist circumference criterion after 1 year of antipsychotic treatment (P = .02). There was a low prevalence and incidence of metabolic syndrome in this group of patients with a first episode of severe mental illness. © 2017 John Wiley & Sons Australia, Ltd.

  15. Altered mental status as a presentation of juvenile polyposis syndrome

    Directory of Open Access Journals (Sweden)

    Natasha Hansraj

    2015-12-01

    Full Text Available Juvenile polyposis coli (JPC is a rare hereditary disorder in which patients have multiple polyps in the gastrointestinal tract and present most commonly with hematochezia. We describe a 4-year-old with intermittent rectal prolapse presenting with altered mental status and headaches. JPC was diagnosed by the presence of multiple, pedunculated, colonic polyps on colonoscopy; his altered mental status resulted from cerebral venous sinus thrombosis. Although JPC is known to be associated with a protein losing enteropathy (PLE, this usually manifests as merely hypoalbuminemia and protein losses without major clinical sequelae. We present a rare complication of cerebral venous sinus thrombosis which highlights altered mental status as a rare presentation of JPC. To our knowledge, this is the first case report in the literature linking JPC, decreased protein S activity, a single mutation in the methylenetetrahydrofolate reductase gene and cerebral thrombosis.

  16. Sexualidade e o adolescente com deficiência mental: uma revisão bibliográfica Sexuality and adolescents with mental disability: a review

    Directory of Open Access Journals (Sweden)

    Olga Maria Bastos

    2005-04-01

    Full Text Available Com o objetivo de discutir a sexualidade de adolescentes com deficiência mental e as repercussões familiares do adolescer, realizou-se uma revisão bibliográfica a partir da base de dados da Bireme, analisando a produção de 1990 a 2003 sobre o tema. Os artigos mostram que os pais se deparam com novos desafios para a integração social dos seus filhos com deficiência mental quando estes chegam à adolescência, especialmente com o despertar de sua sexualidade genital. Os trabalhos corroboram que os preconceitos no campo da sexualidade ainda estão presentes. Fica evidente o temor diante das manifestações sexuais desses adolescentes, como a masturbação, e a dificuldade dos pais em lidar com a situação. Pelo receio do abuso sexual e da gravidez decorrente, métodos contraceptivos, inclusive a esterilização, são discutidos. A revisão da literatura indica, enfim, que o desenvolvimento da sexualidade se dá igualmente nos adolescentes com e sem deficiência, mas são atribuídas representações distintas aos dois grupos. Conclui-se que a ampliação do debate aos pais e adolescentes com deficiência pode contribuir para que eles tenham uma vivência da sexualidade com menos estigmas, menos exposta a riscos e, conseqüentemente, mais satisfatória.The objective of this article is to discuss the sexuality of the mentally retarded adolescent and its consequences within the family. It is based on articles from Bireme, written from 1990 to 2003, related to the sexuality of the adolescents with intellectual disability, as well as the impacts of the adolescence period on the family. The articles show that during this period of development, the parents of the adolescents with intellectual disability face challenges regarding their children's social integration, with the genital sexual awakening being of greatest concern. The papers reinforce that there is still a great deal of prejudice regarding sexuality. It is also clear that parents are

  17. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    Science.gov (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,Psyndrome patients (Psyndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  18. Mental illness and metabolic syndrome – a literature review

    Directory of Open Access Journals (Sweden)

    Urszula J Łopuszańska

    2014-11-01

    Full Text Available [b]introduction and objective[/b]. Researchers’ opinions are divided on whether metabolic syndrome is a separate clinical entity. Undoubtedly, the components of the syndrome, such as abdominal obesity, hypertension, impaired glucose tolerance, hypertriglyceridaemia, adversely affect metabolism, bringing with it a number of consequences, including type 2 diabetes and cardiovascular disease which significantly impair the quality of life. abbreviated [b]description of the state of knowledge[/b]. In recent years, much attention has been paid to research on the prevalence of metabolic disorders in mentally ill patients. This is due to a growing awareness that some antipsychotic medications contribute to weight gain in patients suffering from mental illness, and consequently lead to the development of a number of interrelated somatic factors, such as abdominal obesity, impaired glucose tolerance, hypertriglyceridaemia, and hypertension. Weight gain and other metabolic syndrome components have been noticed not only in patients, but also in their families. This paper presents current research on the prevalence of metabolic syndrome in people with mental illness. An analysis of the causes of metabolic disorders in this population has been conducted, including the role of the hypothalamic-pituitary-adrenal axis and cortisol secretion in the development of components of metabolic syndrome. [b]conclusions[/b]. Components of the metabolic syndrome are especially observed in mentally ill people. The mechanisms of their formation are not fully understood. A large role in their formation besides the negative effects of antipsychotic medication and specific lifestyle, play a specific dysregulation of the hypothalamic-pituitary-adrenal axis. Undoubtedly, further research and analysis in this area is necessary.

  19. Haspeslagh syndrome without severe mental retardation and pterygia?

    NARCIS (Netherlands)

    van Bever, Y.; Hennekam, R. C.

    1995-01-01

    An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this

  20. A case presenting concurrence of Marfan syndrome, Basedow's disease and Arg353Gln polymorphism-related factor VII deficiency.

    Science.gov (United States)

    Tanaka, Kotoko; Seino, Yoshihiko; Inokuchi, Koiti; Ohmura, Kazuko; Kobayashi, Yoshinori; Takano, Teruo

    2005-02-15

    We report the case of a 48-year-old Japanese man who suffered from Marfan syndrome with severe aortic regurgitation, mitral regurgitation and rapid atrial fibrillation, which were aggravated by hyperdynamic circulatory conditions associated with coexistent Basedow's disease. Furthermore, concurrence of Arg353Gln polymorphism-related factor VII deficiency was discovered at the preoperative assessments. Both of his two brothers suffered from Marfan syndrome; however they had no findings of Arg353Glu polymorphism-related factor VII deficiency or Basedow's disease. After normalization of thyroid function, he had successfully the operations of Bentall procedure: a composite prosthetic graft: replacement of both the ascending aorta and aortic valve, and mitral valve annuloplasty. No specific therapy such as fresh frozen plasma or factor VII replacement therapy was required. He completely returned to his business work 6 weeks after the operation. Concurrence of Marfan syndrome and factor VII deficiency induced by two-hit genomic abnormalities and furthermore Basedow's disease, which significantly compromised the pathophysiological condition of Marfan syndrome, is extremely rare.

  1. Monitoring and prevalence rates of metabolic syndrome in military veterans with serious mental illness.

    Directory of Open Access Journals (Sweden)

    Sameed Ahmed M Khatana

    Full Text Available BACKGROUND: Cardiovascular disease is the leading cause of mortality among patients with serious mental illness (SMI and the prevalence of metabolic syndrome--a constellation of cardiovascular risk factors--is significantly higher in these patients than in the general population. Metabolic monitoring among patients using second generation antipsychotics (SGAs--a risk factor for metabolic syndrome--has been shown to be inadequate despite the release of several guidelines. However, patients with SMI have several factors independent of medication use that predispose them to a higher prevalence of metabolic syndrome. Our study therefore examines monitoring and prevalence of metabolic syndrome in patients with SMI, including those not using SGAs. METHODS AND FINDINGS: We retrospectively identified all patients treated at a Veterans Affairs Medical Center with diagnoses of schizophrenia, schizoaffective disorder or bipolar disorder during 2005-2006 and obtained demographic and clinical data. Incomplete monitoring of metabolic syndrome was defined as being unable to determine the status of at least one of the syndrome components. Of the 1,401 patients included (bipolar disorder: 822; schizophrenia: 222; and schizoaffective disorder: 357, 21.4% were incompletely monitored. Only 54.8% of patients who were not prescribed SGAs and did not have previous diagnoses of hypertension or hypercholesterolemia were monitored for all metabolic syndrome components compared to 92.4% of patients who had all three of these characteristics. Among patients monitored for metabolic syndrome completely, age-adjusted prevalence of the syndrome was 48.4%, with no significant difference between the three psychiatric groups. CONCLUSIONS: Only one half of patients with SMI not using SGAs or previously diagnosed with hypertension and hypercholesterolemia were completely monitored for metabolic syndrome components compared to greater than 90% of those with these characteristics

  2. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

    Science.gov (United States)

    Puusepp, H; Kall, K; Salomons, G S; Talvik, I; Männamaa, M; Rein, R; Jakobs, C; Õunap, K

    2010-12-01

    The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild mental retardation (MR) and attention deficit disorder), but patient 2 had all typical clinical signs of SLC6A8 defect such as moderate MR, autistic features, expressive dysphasia and epilepsy. Among our patients, we saw significant problems in speech and language development combined with attention and behavioural difficulties. The number of false-positive biochemical results with increased urinary Cr:Crn ratio was higher (18%) in our study than in previous reports (1.8–10%). We therefore suggest that repeated biochemical testing should be performed before DNA sequencing analysis. Our study suggests that 2% (95% confidence limits: 0.05–11.1%) of this Estonian XLMR panel are due to mutations in the SLC6A8, which is similar to the prevalence reported in other populations. We therefore conclude that creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar MR and diagnostic screening of them should always include screening for SLC6A8 deficiency.

  3. Spino-Cerebellar Degeneration, Hormonal Disorder, Hypogonadism, Deaf Mutism and Mental Deficiency

    Science.gov (United States)

    Sylvester, P. E.

    1972-01-01

    Post mortem examinations were done on two adult siblings (one female and one male) who had been clinically described as suffering from mental handicap, deaf mutism, ataxia, hypogonadism, and hormonal disorders. (DB)

  4. Metabolic syndrome in mental health and addiction treatment: a quantitative study.

    Science.gov (United States)

    Flynn, M; Houtjes, W; Merks, A; van Mierlo, A; van de Wetering, B

    2015-02-01

    Patients with mental illnesses have been found to shorter life expectancy due to an increased risk of heart disease. Some medication used to treat mental illnesses have been linked to weight gain and other physical change that make patients susceptible to heart disease. In order to reduce this risk it is important that health professionals regularly measure and monitor signs of these physical changes. This research has found that measuring both waist circumference and blood pressure of patients is a safe and reliable way to way to monitor patients. To identify if combined blood pressure and waist circumference measurements are reliable predictor of metabolic syndrome, a descriptive correlational design was used to examine the sensitivity and specificity of screening techniques used to detect metabolic syndrome. Data were collected regarding waist circumference, body mass index, blood pressure, fasting blood glucose, triglycerides and high-density lipoproteins. Blood pressure and waist circumference measurements demonstrated high significance, sensitivity and specificity as screening instruments for metabolic syndrome. Combined waist circumference and blood pressure measurements may be clinically useful for a quick and reliable detection of metabolic syndrome in patients with addiction and comorbid mental health problems. © 2014 John Wiley & Sons Ltd.

  5. Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

    NARCIS (Netherlands)

    Diekman, Eugène F.; Boelen, Carolien C. A.; Prinsen, Berthil H. C. M. T.; Ijlst, Lodewijk; Duran, Marinus; de Koning, Tom J.; Waterham, Hans R.; Wanders, Ronald J. A.; Wijburg, Frits A.; Visser, Gepke

    2013-01-01

    Background: Newborn screening (NBS) for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency does not discriminate between isolated LCHAD deficiency, isolated long-chain keto acyl-CoA (LCKAT) deficiency and general mitochondrial trifunctional protein (MTP) deficiency. Therefore, screening

  6. White monkey syndrome and presumptive copper deficiency in wild savannah baboons.

    Science.gov (United States)

    Markham, A Catherine; Gesquiere, Laurence R; Bellenger, Jean-Philippe; Alberts, Susan C; Altmann, Jeanne

    2011-11-01

    In immature wild savannah baboons (Papio cynocephalus), we observed symptoms consistent with copper (Cu) deficiency and, more specifically, with a disorder referred to as white monkey syndrome (WMS) in laboratory primates. The objectives of this study were to characterize this pathology, and test three hypotheses that (1) Cu deficiency may have been induced by zinc (Zn) toxicity, (2) it may have been induced by molybdenum (Mo) toxicity, and (3) cumulative rainfall during the perinatal period and particularly during gestation is an ecological factor distinguishing infants afflicted with WMS from non-WMS infants. During 2001-2009, we observed 22 instances of WMS out of a total 377 live births in the study population. Visible symptoms exhibited by WMS infants included whitening of the animal's fur and/or impaired mobility characterized by an apparent "stiffening" of the hindlimbs. Occurrence of WMS did not vary significantly by gender. However, among individuals that survived at least 180 days, WMS males had a significantly lower survivorship probability than non-WMS males. Zn/Cu ratios assessed from hair samples of adult female baboons were higher in females who had produced at least one WMS offspring relative to females who had not had a WMS offspring. This was true even when the hair sample was collected long after the birth of the female's afflicted infant. We consider this potentially indicative of a robust tendency for low Cu levels induced by elevated Zn intake in some individuals. No significant differences of Mo/Cu ratios were observed. Cumulative rainfall during gestation (∼179 days) was 50% lower for WMS infants relative to non-WMS infants. In contrast, rainfall for the two classes of infants did not differ in the 180 days before conception or in the 180 days following birth. This finding highlights the importance of prenatal ecological conditions in healthy fetal development with regard to WMS. © 2011 Wiley Periodicals, Inc.

  7. Spinal cord injury-induced immune deficiency syndrome enhances infection susceptibility dependent on lesion level.

    Science.gov (United States)

    Brommer, Benedikt; Engel, Odilo; Kopp, Marcel A; Watzlawick, Ralf; Müller, Susanne; Prüss, Harald; Chen, Yuying; DeVivo, Michael J; Finkenstaedt, Felix W; Dirnagl, Ulrich; Liebscher, Thomas; Meisel, Andreas; Schwab, Jan M

    2016-03-01

    Pneumonia is the leading cause of death after acute spinal cord injury and is associated with poor neurological outcome. In contrast to the current understanding, attributing enhanced infection susceptibility solely to the patient's environment and motor dysfunction, we investigate whether a secondary functional neurogenic immune deficiency (spinal cord injury-induced immune deficiency syndrome, SCI-IDS) may account for the enhanced infection susceptibility. We applied a clinically relevant model of experimental induced pneumonia to investigate whether the systemic SCI-IDS is functional sufficient to cause pneumonia dependent on spinal cord injury lesion level and investigated whether findings are mirrored in a large prospective cohort study after human spinal cord injury. In a mouse model of inducible pneumonia, high thoracic lesions that interrupt sympathetic innervation to major immune organs, but not low thoracic lesions, significantly increased bacterial load in lungs. The ability to clear the bacterial load from the lung remained preserved in sham animals. Propagated immune susceptibility depended on injury of central pre-ganglionic but not peripheral postganglionic sympathetic innervation to the spleen. Thoracic spinal cord injury level was confirmed as an independent increased risk factor of pneumonia in patients after motor complete spinal cord injury (odds ratio = 1.35, P spinal cord injury directly causes increased risk for bacterial infection in mice as well as in patients. Besides obvious motor and sensory paralysis, spinal cord injury also induces a functional SCI-IDS ('immune paralysis'), sufficient to propagate clinically relevant infection in an injury level dependent manner. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  8. A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

    Directory of Open Access Journals (Sweden)

    Namburi Rajendra Prasad

    2012-01-01

    Full Text Available Introduction: Silver-Russell syndrome (SRS is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Background: We are presenting a case of SRS with growth hormone (GH deficiency and urogenital abnormalities. Case Report: A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (<3 rd centile at birth. He had delayed developmental milestones. He has had a poor appetite and feeding difficulties since childhood. On physical examination, he had a broad forehead, triangular facies, and low-set prominent ears. Asymmetry of the face, upper and lower extremities was noted, with hemihypertrophy on the right side. His height was 119 cm (<3 rd centile and weight was 18 kg which were low (<3 rd centile as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m 2 showed low GH levels at 30×, 60×, and 90× were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/ year. Conclusion : Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial.

  9. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

    Science.gov (United States)

    Yan, Kezhi; Rousseau, Justine; Littlejohn, Rebecca Okashah; Kiss, Courtney; Lehman, Anna; Rosenfeld, Jill A; Stumpel, Constance T R; Stegmann, Alexander P A; Robak, Laurie; Scaglia, Fernando; Nguyen, Thi Tuyet Mai; Fu, He; Ajeawung, Norbert F; Camurri, Maria Vittoria; Li, Lin; Gardham, Alice; Panis, Bianca; Almannai, Mohammed; Sacoto, Maria J Guillen; Baskin, Berivan; Ruivenkamp, Claudia; Xia, Fan; Bi, Weimin; Cho, Megan T; Potjer, Thomas P; Santen, Gijs W E; Parker, Michael J; Canham, Natalie; McKinnon, Margaret; Potocki, Lorraine; MacKenzie, Jennifer J; Roeder, Elizabeth R; Campeau, Philippe M; Yang, Xiang-Jiao

    2017-01-05

    Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases. Genetic analyses of fish brpf1 and mouse Brpf1 have uncovered an important role in skeletal, hematopoietic, and brain development, but it remains unclear how BRPF1 is linked to human development and disease. Here, we describe an intellectual disability disorder in ten individuals with inherited or de novo monoallelic BRPF1 mutations. Symptoms include infantile hypotonia, global developmental delay, intellectual disability, expressive language impairment, and facial dysmorphisms. Central nervous system and spinal abnormalities are also seen in some individuals. These clinical features overlap with but are not identical to those reported for persons with KAT6A or KAT6B mutations, suggesting that BRPF1 targets these two acetyltransferases and additional partners in humans. Functional assays showed that the resulting BRPF1 variants are pathogenic and impair acetylation of histone H3 at lysine 23, an abundant but poorly characterized epigenetic mark. We also found a similar deficiency in different lines of Brpf1-knockout mice. These data indicate that aberrations in the chromatin regulator gene BRPF1 cause histone H3 acetylation deficiency and a previously unrecognized intellectual disability syndrome. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome.

    Science.gov (United States)

    Kedlaya, Rajendra; Veera, Shreya; Horan, Daniel J; Moss, Rachel E; Ayturk, Ugur M; Jacobsen, Christina M; Bowen, Margot E; Paszty, Chris; Warman, Matthew L; Robling, Alexander G

    2013-11-13

    Osteoporosis pseudoglioma syndrome (OPPG) is a rare genetic disease that produces debilitating effects in the skeleton. OPPG is caused by mutations in LRP5, a WNT co-receptor that mediates osteoblast activity. WNT signaling through LRP5, and also through the closely related receptor LRP6, is inhibited by the protein sclerostin (SOST). It is unclear whether OPPG patients might benefit from the anabolic action of sclerostin neutralization therapy (an approach currently being pursued in clinical trials for postmenopausal osteoporosis) in light of their LRP5 deficiency and consequent osteoblast impairment. To assess whether loss of sclerostin is anabolic in OPPG, we measured bone properties in a mouse model of OPPG (Lrp5(-/-)), a mouse model of sclerosteosis (Sost(-/-)), and in mice with both genes knocked out (Lrp5(-/-);Sost(-/-)). Lrp5(-/-);Sost(-/-) mice have larger, denser, and stronger bones than do Lrp5(-/-) mice, indicating that SOST deficiency can improve bone properties via pathways that do not require LRP5. Next, we determined whether the anabolic effects of sclerostin depletion in Lrp5(-/-) mice are retained in adult mice by treating 17-week-old Lrp5(-/-) mice with a sclerostin antibody for 3 weeks. Lrp5(+/+) and Lrp5(-/-) mice each exhibited osteoanabolic responses to antibody therapy, as indicated by increased bone mineral density, content, and formation rates. Collectively, our data show that inhibiting sclerostin can improve bone mass whether LRP5 is present or not. In the absence of LRP5, the anabolic effects of SOST depletion can occur via other receptors (such as LRP4/6). Regardless of the mechanism, our results suggest that humans with OPPG might benefit from sclerostin neutralization therapies.

  11. Metabolic syndrome in patients with severe mental illness undergoing psychiatric rehabilitation receiving high dose antipsychotic medication.

    Science.gov (United States)

    Ravindranath, Bapu V

    2012-07-01

    To review evidence of chronic antipsychotic medication and the association with metabolic syndrome in mentally ill patients. This evidence was used to analyse a cohort of patients with severe mental illness and to deduce a correlation between the prevalence of metabolic syndrome and their dose regimens. Twenty-four male patients undergoing Psychiatric rehabilitation underwent a review of current medication and assessment of risk factors for metabolic syndrome. Assessment criteria was based upon National Cholesterol Education Programme expert panel on detection, evaluation and treatment of high blood cholesterol in adults (Adult Treatment Panel III) (NCEP ATP III) criteria, incorporating waist circumference, raised triglycerides, reduced high density lipoprotein, raised blood pressure and fasting blood glucose. PubMed, Nature and Science Direct databases have been used to compile the medical and scientific background on metabolic syndrome and antipsychotic medication and the effect on patients particularly on high dose. Out of 24 patients, 10 patients (41.7%) were receiving high dose antipsychotics (HDA) and four were on maximum dosage limits of 100%. 8.3% (2/24) patients were receiving only one first generation antipsychotics (FGA), 37.5% (9/24) patients were receiving only one second generation antipsychotic (SGA), 45.8% patients (11/24) were receiving two or more SGA only, and only one patient was receiving two or more FGA. One patient was receiving a combination of FGA and SGA. PRN ("as needed") therapy was not included in this study as their usage was limited. Clozapine was mostly prescribed in these patients (10/24, 41.6%). Four out of the 24 patients refused blood tests therefore were excluded from the following results. In the patients evaluated, 55% (11/20) had confirmed metabolic syndrome. In these patients with metabolic syndrome, 45.4% (5/11) were on HDA and 27.3% (3/11) were on maximum British National Formulary (BNF) limits of 100% of dosage. Four out

  12. The Point of View of Pathophysiologist-Endocrinologist on the Problem of Age-Related Androgen Deficiency in Men (LOH-Syndrome

    Directory of Open Access Journals (Sweden)

    A.G. Reznikov

    2014-09-01

    Full Text Available The paper presents a pathophysiological analysis of age-related androgen deficiency syndrome in men (LOH-syndrome with special reference to current knowledge of molecular mechanisms of testosterone effects and androgen regulation of the structure and function of organs and systems of the male body. There is emphasized etiological and pathogenetic role of stress in this pathology. There is presented author’s concept of cause-effect relations between chronic stress, metabolic syndrome and LOH-syndrome.

  13. Patients and acute coronary syndrome - Prehospital delay and mental and emotional delaying responses - a qualitative study

    DEFF Research Database (Denmark)

    Lorentzen, Vibeke; Larsen, Birte Hedegaard

    2016-01-01

    cardinal. Male participants often used expletives and expressed symptoms in concrete terms. Women expressed symptoms in vaguer terms. Both genders used linguistic metaphors. The implications for nursing emphasised the impact of prodromal symptoms, mental and emotional withdrawal, and linguistic...... to identify and discuss patient’s mental and emotional responses, including interpretations and delaying strategies concerning Acute Coronary Syndrome symptoms, with a view to elucidating patterns in the pre-hospital decision-making process of female and male persons to contact medical services...

  14. Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome.

    Science.gov (United States)

    Oka, Yoichiro; Masumoto, Kouji; Nakamura, Masatoshi; Iwasaki, Akinori

    2011-10-01

    Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful. Copyright © 2012. Published by Elsevier B.V.

  15. Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome

    Directory of Open Access Journals (Sweden)

    Yoichiro Oka

    2011-10-01

    Full Text Available Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful.

  16. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

    NARCIS (Netherlands)

    Caldeira Araujo, H.; Smit, W.; Verhoeven, N.M.; Salomons, G.S.; Silva, S.; Vasconcelos, R.; Tomas, H.; Tavares de Almeida, I.; Jakobs, C.A.J.M.; Duran, M.

    2005-01-01

    Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180

  17. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    Science.gov (United States)

    Moretti, Paolo; Peters, Sarika U.; del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J.; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin; Bacino, Carlos A.; Scaglia, Fernando

    2008-01-01

    We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects…

  18. Adolescer com deficiência mental: a ótica dos pais Being adolescent with mental disability: the point of view of the parents

    Directory of Open Access Journals (Sweden)

    Olga Maria Bastos

    2009-02-01

    Full Text Available Este trabalho tem como objetivo conhecer a representação da adolescência para os responsáveis por adolescentes com deficiência mental. Como metodologia, utilizamos a análise de narrativas de pais de adolescentes com deficiência mental. Baseamo-nos, principalmente, nas orientações de Thompson (1998 e Byron-Good (1996. Embora os pais reconhecessem nos filhos algumas características próprias da adolescência, nem sempre os consideravam como adolescentes, devido à pouca autonomia que possuíam. Muito freqüentemente, não propiciavam uma educação que contribuísse para uma maior autonomia dos filhos, ressentindo-se da falta de referências de como se comportar diante das mudanças de comportamento deles. Tendo em vista a constatação da importância da aquisição de uma maior autonomia para que os adolescentes tenham o reconhecimento deste período do desenvolvimento humano e possam vivenciá-lo da melhor forma possível, é neste sentido que algumas ações devem se desenvolver. Se forem apresentadas novas oportunidades de aprimoramento das competências e habilidades dos adolescentes com deficiência mental que ampliem seus " horizontes" , muitos poderão alcançar uma melhor autonomia que possibilite sua participação nas tomadas de decisão sobre seu destino e a vivência satisfatória de todas as etapas do seu ciclo de vida.The purpose of this paper was to understand the meaning adolescence has for parents of adolescents with mental disability. The methodology used was the narrative analysis according to the guidelines of Thompson (1998 and Byron-Good (1996. Although the parents identified some typical characteristics of adolescence in their children, not always they did in fact consider them adolescents due to their lack of autonomy. Quite often the parents did not meet the family life education needs of their disabled children helping them to become more independent. The lack of information about how to act in face of the

  19. Complex regional pain syndrome treated with intravenous immunoglobulin in a patient with common variable immune deficiency.

    Science.gov (United States)

    Tachdjian, Raffi

    2013-12-01

    Common variable immunodeficiency (CVID) represents a large heterogeneous group of antibody-deficiency syndromes associated with a wide range of clinical features and a lack of defined causes in the realm of primary immunodeficiencies. Here, we present a case of CVID in a 62-year-old white male patient with a history of longstanding complex regional pain syndrome (CRPS). His medical history included multiple sinus infections per year and several pneumonias requiring antibiotics. He has had various back surgeries, including a laminectomy at the L4 level 1 year prior to his diagnosis. Thereafter, he underwent four sympathetic nerve blocks with minimal pain relief. Blood chemistries showed a normal white blood cell count with a normal differential, but increased erythrocyte sedimentation rate and C-reactive protein levels. Total Ig (Immunoglobulin)G was 611 mg/dL (normal 700-1,600), IgG1 was 425 mg/dL (341-894), IgG2 was 114 mg/dL (171-632), IgG3 was 14.4 mg/dL (18.4-106), and IgG4 was 7.4 mg/dL (2.4-121). IgA was 47 mg/dL (normal 70-400), IgM was 131 mg/dL (40-230), and IgE was 4.5 kU/L (post-vaccination. Upon treatment of the CVID with intravenous immunoglobulin, the patient's pain levels were significantly decreased and have been maintained for more than 2 years. Therefore, immunoglobulin therapy appears to have been beneficial in the treatment of the patient's symptoms of CRPS, including pain. Additional studies investigating the mechanism by which immunoglobulin therapy may reduce the inflammation and pain of CRPS are needed.

  20. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  1. Patients and acute coronary syndrome - Prehospital delay and mental and emotional delaying responses - a qualitative study

    DEFF Research Database (Denmark)

    Lorentzen, Vibeke; Larsen, Birte Hedegaard

    2016-01-01

    to identify and discuss patient’s mental and emotional responses, including interpretations and delaying strategies concerning Acute Coronary Syndrome symptoms, with a view to elucidating patterns in the pre-hospital decision-making process of female and male persons to contact medical services....... A phenomenological design inspired by Steinar Kvale provided the methodological foundation. 15 women and 15 men with a first-time diagnosis of Acute Coronary Syndrome were interviewed 48-72 hours after admission. On symptom debut, the participants’ strategies were to «wait and see» and «let me be». Chest pains were...... cardinal. Male participants often used expletives and expressed symptoms in concrete terms. Women expressed symptoms in vaguer terms. Both genders used linguistic metaphors. The implications for nursing emphasised the impact of prodromal symptoms, mental and emotional withdrawal, and linguistic...

  2. Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals

    NARCIS (Netherlands)

    Morkrid, L.; Rowe, A.D.; Elgstoen, K.B.P.; Olesen, J.H.; Ruijter, G.; Hall, P.L.; Tortorelli, S.; Schulze, A.; Kyriakopoulou, L.; Wamelink, M.M.C.; van de Kamp, J.M.; Salomons, G.S.; Rinaldo, P.

    2015-01-01

    BACKGROUND: Urinary concentrations of creatine and guanidinoacetic acid divided by creatinine are informative markers for cerebral creatine deficiency syndromes (CDSs). The renal excretion of these substances varies substantially with age and sex, challenging the sensitivity and specificity of

  3. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.

    Science.gov (United States)

    Sakiyama, Tomo; Kubo, Akiharu; Sasaki, Takashi; Yamada, Taketo; Yabe, Nobushige; Matsumoto, Ken-ichi; Futei, Yuko

    2015-05-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS. © 2015 Japanese Dermatological Association.

  4. DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

    Science.gov (United States)

    Ricker, Charité N; Hanna, Diana L; Peng, Cheng; Nguyen, Nathalie T; Stern, Mariana C; Schmit, Stephanie L; Idos, Greg E; Patel, Ravi; Tsai, Steven; Ramirez, Veronica; Lin, Sonia; Shamasunadara, Vinay; Barzi, Afsaneh; Lenz, Heinz-Josef; Figueiredo, Jane C

    2017-10-01

    The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods. The mean age of the patients at the time of diagnosis was 53.7 years (standard deviation, 10.3 years), and 48.3% were female. Overall, 21.2% of patients reported a first-degree or second-degree relative with CRC; 3.4% met Amsterdam I/II criteria. With respect to Bethesda guidelines, 38.5% of patients met at least 1 criterion. Of the 161 individuals who had immunohistochemistry and/or microsatellite instability testing performed, 21 (13.0%) had mismatch repair (MMR)-deficient (dMMR) tumors. dMMR tumors were associated with female sex (61.9%), earlier age at the time of diagnosis (50.4 ± 12.4 years), proximal location (61.9%), and first-degree (23.8%) or second-degree (9.5%) family history of CRC. Among individuals with dMMR tumors, 13 (61.9%) had a germline MMR mutation (MutL homolog 1 [MLH1] in 6 patients; MutS homolog 2 [MSH2] in 4 patients; MutS homolog 6 [MHS6] in 2 patients; and PMS1 homolog 2, mismatch repair system component [PMS2] in 1 patient). The authors identified 2 additional MLH1 mutation carriers by genetic testing who had not received immunohistochemistry/microsatellite instability testing. In total, 5.7% of the entire cohort were confirmed to have Lynch syndrome. In addition, 6 individuals (2.3%) had a polyposis phenotype. The percentage of dMMR tumors noted among Latino individuals (13%) is similar to estimates in non-Hispanic white individuals. In the current study, the majority of

  5. Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel.

    Science.gov (United States)

    Abu Freha, Naim; Leibovici Weissman, Yaara; Fich, Alexander; Barnes Kedar, Inbal; Halpern, Marisa; Sztarkier, Ignacio; Behar, Doron M; Arbib Sneh, Orly; Vilkin, Alex; Baris, Hagit N; Gingold, Rachel; Lejbkowicz, Flavio; Niv, Yaron; Goldberg, Yael; Levi, Zohar

    2018-01-01

    We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF wild type /normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAF wild type phenotype.

  6. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

    Science.gov (United States)

    Wimmer, K; Rosenbaum, T; Messiaen, L

    2017-04-01

    Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations between NF1 and these malignancies are to a large extent based on studies that neither proved the presence of an NF1 germline mutation nor ruled-out CMMRD in the affected. Hence, these associations are challenged by our current knowledge of the phenotypic overlap between NF1 and CMMRD and should be re-evaluated in future studies. Recent advances in the diagnostics of CMMRD should render it possible to definitely state or refute this diagnosis in these individuals. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Predictive factors for the Nursing Diagnoses in people living with Acquired Immune Deficiency Syndrome 1

    Science.gov (United States)

    da Silva, Richardson Augusto Rosendo; Costa, Romanniny Hévillyn Silva; Nelson, Ana Raquel Cortês; Duarte, Fernando Hiago da Silva; Prado, Nanete Caroline da Costa; Rodrigues, Eduardo Henrique Fagundes

    2016-01-01

    Abstract Objective: to identify the predictive factors for the nursing diagnoses in people living with Acquired Immune Deficiency Syndrome. Method: a cross-sectional study, undertaken with 113 people living with AIDS. The data were collected using an interview script and physical examination. Logistic regression was used for the data analysis, considering a level of significance of 10%. Results: the predictive factors identified were: for the nursing diagnosis of knowledge deficit-inadequate following of instructions and verbalization of the problem; for the nursing diagnosis of failure to adhere - years of study, behavior indicative of failure to adhere, participation in the treatment and forgetfulness; for the nursing diagnosis of sexual dysfunction - family income, reduced frequency of sexual practice, perceived deficit in sexual desire, perceived limitations imposed by the disease and altered body function. Conclusion: the predictive factors for these nursing diagnoses involved sociodemographic and clinical characteristics, defining characteristics, and related factors, which must be taken into consideration during the assistance provided by the nurse. PMID:27384466

  8. Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.

    Science.gov (United States)

    Ramm-Pettersen, Anette; Nakken, Karl O; Haavardsholm, Kathrine Cammermeyer; Selmer, Kaja Kristine

    2014-03-01

    Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic encephalopathy caused by a mutation in the SLC2A1 gene. This mutation causes a compromised transport of glucose across the blood-brain barrier. The treatment of choice is ketogenic diet, with which most patients become seizure-free. At the National Centre for Epilepsy, we have, since 2005, offered treatment with ketogenic diet (KD) and modified Atkins diet (MAD) to children with difficult-to-treat epilepsy. As we believe many children with GLUT1-DS are unrecognized, the aim of this study was to search for patients with GLUT1-DS among those who had been responders (>50% reduction in seizure frequency) to KD or MAD. Of the 130 children included, 58 (44%) were defined as responders. Among these, 11 were already diagnosed with GLUT1-DS. No mutations in the SLC2A1 gene were detected in the remaining patients. However, the clinical features of these patients differed considerably from the patients diagnosed with GLUT1-DS. While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. We therefore conclude that a seizure reduction of >50% following dietary treatment is not a suitable criterion for identifying patients with GLUT1-DS, as these patients generally achieve complete seizure freedom shortly after diet initiation. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency.

    Science.gov (United States)

    Michaux, Katell; Bacchetta, Justine; Javouhey, Etienne; Cochat, Pierre; Frémaux-Bacchi, Véronique; Sellier-Leclerc, Anne-Laure

    2014-12-01

    Neonatal atypical hemolytic uremic syndrome (aHUS) is a rare but severe disease that is mainly due to methylmalonic aciduria or genetic complement abnormalities. Traditional management of aHUS includes plasma infusion/exchange, but in small or unstable infants, plasma exchange can be challenging because of high extracorporeal volume and difficulty to obtain an adequate venous access. The C5 complement blocker eculizumab has become a cornerstone of first-line management of aHUS due to complement deregulation in older patients. However, little data are available on its use in neonatal aHUS. We report on an 11-day-old neonate with severe aHUS (myocardial impairment, respiratory failure, acute kidney disease requiring hemodiafiltration) due to homozygous factor-H deficiency. She received early treatment with eculizumab as first-line therapy and completely recovered within 5 days. A second dose of eculizumab was administered 7 days after the first infusion, followed by a dose every 2 weeks for 2 months and then every 3 weeks, at the same dosage (300 mg). With more than 24 months of follow-up, renal function remains normal. We report on the long-term efficacy and safety of eculizumab as first-line therapy in neonatal aHUS. However its use still requires optimization in terms of indications and administration (frequency, dosage).

  10. Infectious Keratitis in Limbal Stem Cell Deficiency: Stevens-Johnson Syndrome Versus Chemical Burn.

    Science.gov (United States)

    Kang, Byeong Soo; Kim, Mee Kum; Wee, Won Ryang; Oh, Joo Youn

    2016-01-01

    To investigate the incidence, clinical and microbiological characteristics, risk factors, and therapeutic outcome of infectious keratitis in patients with limbal stem cell deficiency (LSCD) related to Stevens-Johnson syndrome (SJS) and corneal chemical burn. Medical records of 90 eyes of 59 patients who were diagnosed with LSCD resulting from SJS (52 eyes of 29 patients) or corneal chemical burn (38 eyes of 30 patients) were reviewed. Infectious keratitis developed in 35% of LSCD patients with SJS (18 eyes, 14 patients) and in 18% of those with chemical burn (7 eyes, 7 patients). The development of infectious keratitis in SJS was significantly associated with the severity of chronic ocular surface complications in the cornea, conjunctiva, and eyelids and with the use of topical corticosteroids during the disease course. All cases of infectious keratitis following chemical burn occurred in patients with grade III or IV burn by Roper-Hall classification. Approximately 83% of culture-proven cases of infectious keratitis were bacterial infection, most of which (80%) were caused by Gram-positive bacteria. For resolution of infection, 17 eyes (68%) received surgery in addition to medical treatment, whereas 8 eyes (32%) received medical treatment alone. After infection resolution, the final visual acuity was decreased in 10 eyes (40%) compared with before infection. Infectious keratitis is a common complication of LSCD associated with SJS or severe chemical burn to the cornea. Despite medical and surgical treatments, the visual outcome is poor.

  11. Neurogenetics and gene therapy for reward deficiency syndrome: are we going to the Promised Land?

    Science.gov (United States)

    Blum, Kenneth; Thanos, Peter K; Badgaiyan, Rajendra D; Febo, Marcelo; Oscar-Berman, Marlene; Fratantonio, James; Demotrovics, Zsolt; Gold, Mark S

    2015-07-01

    Addiction is a substantial health issue with limited treatment options approved by the FDA and as such currently available. The advent of neuroimaging techniques that link neurochemical and neurogenetic mechanisms to the reward circuitry brain function provides a framework for potential genomic-based therapies. Through candidate and genome-wide association studies approaches, many gene polymorphisms and clusters have been implicated in drug, food and behavioral dependence linked by the common rubric reward deficiency syndrome (RDS). The results of selective studies that include the role of epigenetics, noncoding micro RNAs in RDS behaviors especially drug abuse involving alcohol, opioids, cocaine, nicotine, pain and feeding are reviewed in this article. New targets for addiction treatment and relapse prevention, treatment alternatives such as gene therapy in animal models, and pharmacogenomics and nutrigenomics methods to manipulate transcription and gene expression are explored. The recognition of the clinical benefit of early genetic testing to determine addiction risk stratification and dopaminergic agonistic, rather than antagonistic therapies are potentially the genomic-based wave of the future. In addition, further development, especially in gene transfer work and viral vector identification, could make gene therapy for RDS a possibility in the future.

  12. Does vitamin D deficiency predict early conversion of clinically isolated syndrome? A preliminary Egyptian study.

    Science.gov (United States)

    Shaheen, Hala A; Sayed, Sayed S; Daker, Lamiaa I; AbdelAziz, Hossam Eldin; Taha, Mohamed A

    2018-03-15

    It has been suggested that vitamin D influences the immunoregulation and subsequently affects the risk for conversion of clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (MS). There is little information regarding the relationship between levels of vitamin D and CIS conversion to MS in Egyptian patients. It is to study contribution of vitamin D deficiency to conversion of CIS to clinically definite multiple sclerosis (CDMS) and correlation of vitamin D level to cognitive and magnetic resonance imaging (MRI) results. A longitudinal prospective case control study was conducted on 43 Egyptian patients diagnosed as CIS according to McDonald criteria (2010). Clinical presentation, brain MRI and 25-hydroxyvitamin D levels were evaluated at baseline and after one-year follow-up. The CIS patients that converted to MS showed significant lower vitamin D level (p < 0.001) than the non-convertors. Multivariate logistic regression analysis revealed that the CIS patients with lower 25-hydroxyvitamin D level (p < 0.001) are at higher risk for early conversion to MS. There was a significant positive correlation between the vitamin D level and PASAT (r = 0.36, p = 0.02). It was found that there was a significant negative correlation between vitamin D level and MRI T 2 load (r = -0.38, p = 0.01). The low level of 25-hydroxyvitamin D may predict early conversion to clinically definite MS. Early vitamin D supplementation is recommended in patients with CIS.

  13. Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice.

    Science.gov (United States)

    Porosk, Rando; Terasmaa, Anton; Mahlapuu, Riina; Soomets, Ursel; Kilk, Kalle

    2017-12-01

    Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Mutations in the WFS1 gene encoding the wolframin glycoprotein can lead to endoplasmic reticulum stress and unfolded protein responses in cells, but the pathophysiology at whole organism level is poorly understood. In this study, several organs (heart, liver, kidneys, and pancreas) and bodily fluids (trunk blood and urine) of 2- and 6-month old Wfs1 knockout (KO), heterozygote (HZ), and wild-type (WT) mice were analyzed by untargeted and targeted metabolomics using liquid chromatography-mass spectrometry. The key findings were significant perturbations in the metabolism of pancreas and heart before the onset of related clinical signs such as glycosuria that precedes hyperglycemia and thus implies a kidney dysfunction before the onset of classical diabetic nephropathy. The glucose use and gluconeogenesis in KO mice are intensified in early stages, but later the energetic needs are mainly covered by lipolysis. Furthermore, in young mice liver and trunk blood hypouricemia, which in time turns to hyperuricemia, was detected. In summary, we show that the metabolism in Wfs1-deficient mice markedly differs from the metabolism of WT mice in many aspects and discuss the future biological and clinical relevance of these observations.

  14. A clinical study of mentally retarded children with fragile X syndrome inSaudi Arabia

    International Nuclear Information System (INIS)

    Al-Husain, M.; Salih, Mustafa A.M.; Zaki, Osama K.; Al-Othman, L.; Al-Nasser, Mohammed N.

    2000-01-01

    Studies on fragile X syndrome are scarce in Saudi Arabia and othercountries of the Arabian Peninsula. The few studies previously done haveeither been in the form of case reports or those performed oninstitutionalized mentally retarded patients. The aim of this study was todetermine the prevalence of fragile X syndrome among cases with mentalretardation who have been referred to the pediatric neurology clinics of KingKhalid University Hospital (KKUH) in Riyadh. Cytogenetic studies wereperformed in 94 cases that were referred to the pediatric neurology clinicsof KKUH because of mental retardation and/or delayed milestones ofdevelopment, from July 1995 to December 1997. Six male probands (6.4%) showedthe classic fragile X chromosome and another six (including a four year oldgirl) were detected, following extension of the cytogenetic studies to all 32first-degree relatives. Affection of more than one sibling was ascertained infour families. One family had four brothers with fragile X syndrome, whereasanother formed part of a large kindred with twelve males and five females whowere mentally retarded. A clinical, physical and psychological screeningchecklist was applied to the eleven affected males. Large testicular size,long face and short attention span were the most frequent features and eachwas detected in nine patients (82%). Pes planus and history of delayed speechwere found in eight patients (73%). The study showed that the fragile Xsyndrome clinical screening checklist has been applied in other populationsmight equally valuable and applicable among the population of Saudi Arabia.However, the presence of pale blue eyes can be excluded and more weight givento positive family history of mental to the most common clinical diagnosticfeatures of fragile X syndrome. (author)

  15. Congenital Cytomegalovirus Infection: A Significant Cause of Deafness and Mental Deficiency.

    Science.gov (United States)

    Eichhorn, Sarah K.

    1982-01-01

    Research on cytomegalovirus (CMV), a herpes virus causing neurological damage (hearing problems and/or mental retardation) in 10 percent of infants born with the condition, is reviewed. Incidence of hearing and retardation in CMV cases is reported and current treatment described. (CL)

  16. Mental health and physical activity in women with polycystic ovary syndrome: a brief review.

    Science.gov (United States)

    Conte, Francesca; Banting, Lauren; Teede, Helena J; Stepto, Nigel K

    2015-04-01

    This review was designed to consider the available literature concerning mental health and physical activity in women with polycystic ovary syndrome (PCOS). A systematic approach was taken and two electronic databases (PubMed and EBSCO Research articles published between 1970 and 2013) were searched in 2013 to inform a narrative review. Inclusion criteria encompassed requirements for the research to involve a physical activity intervention and assessment of mental health outcomes in women with PCOS. Seven articles considered mental health outcomes and physical activity interventions for women with PCOS. The results demonstrated positive outcomes following physical activity intervention for health-related quality of life, depression, and anxiety. Only one paper reported the independent effects of physical activity on mental health. All other interventions included multi-factor lifestyle interventions or did not establish a control group. Physical activity is likely to be beneficial to the mental health of women with PCOS; however, more research is required to establish the nature of the relationship between physical activity and mental health outcomes.

  17. Successful use of recombinant factor VIIa in a child with Schoenlein-Henoch purpura presenting with compartment syndrome and severe factor XIII deficiency.

    Science.gov (United States)

    Alioglu, Bulent; Ozsoy, M Hakan; Tapci, Esra; Karamercan, Sirma; Agras, Pinar I; Dallar, Yildiz

    2013-01-01

    In this article, we present a 7-year-old boy with Schoenlein-Henoch purpura (HSP) presented with compartment syndrome and factor XIII deficiency and treated with recombinant factor VIIa and fasciotomy. Treatment decisions for patients with HSP presenting with compartment syndrome should be made on a case-by-case basis. Factor XIII deficiency should be in mind in these patients. The use of recombinant factor VIIa might be effective and well tolerated for treating hemorrhage in patients with HSP and compartment syndrome. Surgical treatment should be preferred in patients with compartment syndrome. However, in patients who have a coagulation defect, the first priority is to correct the clotting deficiency. The use of recombinant factor VIIa is a treatment option for children who develop compartment syndrome due to a coagulation defect.

  18. Inclusão escolar e deficiência mental: análise da interação social entre companheiros School inclusion and mental deficiency: analysis of the social interaction among peers

    Directory of Open Access Journals (Sweden)

    Marcus Welby Batista

    2004-04-01

    Full Text Available A inclusão escolar de portadores de deficiências tem sido a proposta norteadora e dominante na Educação Especial no Brasil nos últimos anos. Esta pesquisa teve por objetivo descrever e analisar a interação social entre três alunos das primeiras séries do Ensino Fundamental com Deficiência Mental (DM e seus colegas, em três escolas-pólos municipais de Vitória, ES. Aplicaram-se a todos 80 alunos testes sociométricos com perguntas sobre três escolhas e três rejeições para brincar e realizar tarefas escolares; foram filmadas 15 sessões de observações na situação de recreio, cinco para cada um dos três sujeitos focais. Esses dados foram compatíveis com aqueles obtidos nos testes sociométricos, mostrando que esses os alunos com DM são menos aceitos e são mais rejeitados do que seus colegas, passando a maior parte do tempo de recreio sozinhos, demonstrando dificuldades para iniciar, manter e finalizar os contatos sociais com os colegas.The inclusion of bearers of deficiencies in schools has been a guiding and dominating proposal in Special Education, including in Brazil, and has directed rehabilitation and educational programs and policies. The aim of this study was to describe and to analyze the interaction among three students with Mental Retardation (MR and their peers. The study was carried out with first-grade students of three core municipal schools of the city of Vitória, ES, Brazil, who had classmates who were bearers of MR. All 80 students were given a sociometric test containing questions on three choices and rejections of classmates with whom to play and to accomplish classroom tasks. Fifteen observation sessions were recorded, five for each target children (plus an extra one for one of the children, during an entire month. The results showed that students who have special education needs are less frequently accepted and more frequently rejected than their peers in regular classrooms. It was noted that subjects

  19. Prevalence of symptoms and associated comorbidities of testosterone deficiency syndrome in the Korean general population.

    Science.gov (United States)

    Moon, Du Geon; Kim, Jin Wook; Kim, Je Jong; Park, Kwang Sung; Park, Jong Kwan; Park, Nam Cheol; Kim, Sae Woong; Lee, Sung Won

    2014-02-01

    Testosterone deficiency syndrome (TDS) is a prevalent disease of the aging male with much confusion to its associated presentation, diagnosis, and comorbidities. We investigated the overall prevalence of TDS and its putative symptoms and associated diseases in a nationwide study on participants recruited from routine checkup. One thousand eight hundred seventy-five participants seeking biennial health checkup were enrolled from a nationwide distribution of randomly selected registry of primary clinics. Putative symptoms and comorbidities were assessed for serum testosterone-dependent prevalence change, independent of age. The identified symptoms were then assessed by multivariate backward stepwise binominal regression to determine the optimal reference level of testosterone and the strength of the associated comorbidities. TDS was assessed by serum testosterone, the Aging Males' Symptom scale, and the Androgen Deficiency in Aging Male questionnaire. Patient body habitus measurements and history of associated comorbidities were also described. The dependent variables included the age-specific prevalence of decreased testosterone and the probability of TDS-specific symptoms. Grossly 10.2% of the participants fell into the criteria for TDS. Testosterone was highly age dependent, and most putative symptoms of TDS showed significant age dependence but was not affected by serum testosterone levels. However, the symptoms of decreased libido and erectile dysfunction, and comorbidities such as hypertension, type 2 diabetes, and obesity showed relevant dependence on serum testosterone levels as well as age above 50 years of age. Furthermore, these symptoms were also affected at different serum testosterone thresholds. Decreased libido increased significantly at serum testosterone levels of 550 ng/dL (odds ratio [OR] = 1.295, 95% confidence interval [CI] = 1.047-1.601), and erectile dysfunction was affected by serum testosterone levels at 250 ng/dL (OR = 1.369, 95% CI = 1

  20. Inteligência e deficiência mental num olhar voltado para a complexidade

    OpenAIRE

    Roberto Gimenez

    2000-01-01

    Atualmente, um tema que tem despertado a atenção e, por isso, tem sido motivo de debate e questionamento é a inteligência. Por exemplo, muitos termos como inteligência artificial, inteligência coletiva, inteligência emocional emergem no cenário internacional. Não há dúvida de que a discussão de aspectos relacionados à inteligência assume uma importância ainda maior ao se levar em consideração o problema da deficiência. O propósito do presente artigo é levantar alguns temas q...

  1. Reflexão sobre as interações sociais: pessoas idosas com deficiência mental

    Directory of Open Access Journals (Sweden)

    Lenir Santos Schettert

    2007-11-01

    Full Text Available O propósito desta pesquisa foi a investigação sobre as condições de vida de deficientes mentais idosos institucionalizados na Escola de Educação Especial “Recanto Feliz” e Asilo São Vicente de Paulo, instituições localizadas no município de Palmeira das Missões- RS, através de um estudo sobre a importância das interações sociais para estes sujeitos. Utilizou-se de um estudo de caso comparativo entre os idosos das respectivas instituições. O procedimento da análise dos dados buscou uma aproximação com as teorias vygotskyana e walloniana e a investigação evidenciou a necessidade do desenvolvimento de mais pesquisas no campo das ciências humanas como forma de sustentar e qualificar as práticas institucionais voltadas para o deficiente mental idoso. O idoso institucionalizado na escola vivenciou uma prática interativa que favoreceu o seu desenvolvimento quanto a comunicação, ao uso da linguagem e a sua convivência no grupo. A idosa da casa asilar permanece no mesmo nível de desenvolvimento, tendo em vista o seu contexto social. Palavras-chave: Idoso. Deficiência Mental. Interações Sociais.

  2. Biochemical deficiency of pyridoxine does not affect interleukin-2 production of lymphocytes from patients with Sjögren's syndrome.

    Science.gov (United States)

    Tovar, A R; Gómez, E; Bourges, H; Ortíz, V; Kraus, A; Torres, N

    2002-11-01

    There is evidence that pyridoxine deficiency may alter the immune response. It is not known whether a deficiency of this vitamin is evident in subjects with primary Sjögren's syndrome (SS). We studied whether subjects with primary SS showed a biochemical deficiency of pyridoxine, and if it is associated with abnormal production of interleukin-2 from lymphocytes stimulated in vitro with phytohemagglutinin (PHA). Two studies were conducted, (i) biochemical and nutritional assessments were performed in a cross-over study in subjects with primary SS, who were supplemented with 25 mg/day of pyridoxine or placebo for 3 months. After 1 month washout, they were supplemented for 3 months with placebo, (ii) patients with SS and matched controls received pyridoxine or placebo for 45 days, and a blood sample was obtained to study IL-2 production and expression in T-lymphocytes stimulated with PHA. Subjects with primary SS showed limited dietary intake of pyridoxine and biochemical deficiency of this vitamin assessed through the activation coefficient of the erythrocyte aspartate aminotransferase. The biochemical deficiency did not affect production nor mRNA expression of IL-2 from T-lymphocytes stimulated in vitro with PHA compared with the control group. Supplementation of subjects with primary SS with 25 mg/day with pyridoxine for 45 days did not produce any significant change as compared to those patients supplemented with placebo. Subjects with primary SS showed biochemical deficiency of pyridoxine, possibly due to limited intake of this vitamin which was corrected by supplementation with pyridoxine. However, IL-2 production and mRNA expression from stimulated lymphocytes were unaffected by supplementation, probably because the deficiency was not severe enough to affect the immune system. This work was supported by the National Council of Science and Technology (CONACYT), Mexico, grant no. 212226-5-0902PM.

  3. Mutual influence of intensity of pain syndrome and borderline mental disorders in patients with coxarthrosis

    Directory of Open Access Journals (Sweden)

    I. D. Spirina

    2017-02-01

    Full Text Available The objective of this study is to evaluate the mutual influence of pain syndrome and borderline psychiatric disorders depending on its intensity and tolerability in patients with coxarthrosis who need endoprosthetics. 76 patients with coxarthrosis aged from 25 to 68 who were hospitalized in the Department of Endoprosthetics at Mechnikov Regional Clinical Hospital in Dnipro City in the period from November 2015 to September 2016 were observed. For diagnosis of psychopathological disorders, and for evaluation of the effectiveness of therapeutic interventions, the following methods were used in our research: clinical and psychopathological (technique SCL-90-R, Tаylor anxiety scale, study of the type of attitude to the disease (LOBI, Dembo-Rubinstein self-esteem scale, Leonhard-Schmieschek questionnaire for assessment of accentuation of personality traits, the Luscher 8-colour test and the Toronto alexithymia scale (TAS. Severity of pain syndrome was assessed using a visual analogue scale of pain (VAS. Forms of borderline mental disorders were diagnosed in 51 patients with coxarthrosis, such as depressive disorder (F 32 – 19 (24.8%, neurasthenia (F 48 – 12 (16.2, anxiety and phobic disorders (F 40–41 – 14 (18.1%, and personality disorders (F 60.5, F 60.6, F 60.7 – 6 (7.6%. In 25 (33.3% patients clinically-defined forms of mental disorders were identified. Leading syndromes in these disorders were depression – 19 (24.8% patients, anxiety and phobic – 15 (20.0%, asthenic – 10 (12.4%, hypochondriacal – 7 (9.5% patients. According to the results of the correlation analysis, a close correlation between the severity of pain syndrome and borderline mental disorders (r = 0.779 was established for patients in the preoperative stage. The average level of pain syndrome on the VAS scale in patients with borderline mental disorders was twice as high as in patients without these disorders (63.4 vs. 32.4 points, but it does not depend on the

  4. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth

  5. Mental rotation ability and everyday-life spatial activities in individuals with Down syndrome.

    Science.gov (United States)

    Meneghetti, Chiara; Toffalini, Enrico; Carretti, Barbara; Lanfranchi, Silvia

    2018-01-01

    Although certain visuospatial abilities, such as mental rotation, are crucially important in everyday activities, they have been little explored in individuals with Down syndrome (DS). This study investigates: i) mental rotation ability in individuals with DS; and ii) its relation to cognitive abilities and to everyday spatial activities. Forty-eight individuals with DS and 48 typically-developing (TD) children, matched on measures of vocabulary and fluid intelligence, were compared on their performance in a rotation task that involved detecting which of two figures would fit into a hole if rotated (five angles of rotation were considered: 0°, 45°, 90°, 135°, 180°). Participants were also assessed on their visuospatial and verbal cognitive abilities, and on their parents and/or educators reports regarding their everyday spatial activities. Results showed that: (i) individuals with DS were less accurate in mental rotation than TD children, with larger differences between the groups for smaller angles of rotation; individuals with DS could not mentally rotate through 180°, while TD children could; (ii) mental rotation ability was related to fluid intelligence and to spatial activities (though other cognitive abilities are also involved in the latter) to a similar degree in the DS group and the matched TD children. These results are discussed with regard to the atypical development domain and spatial cognition models. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Characterization of adult onset growth hormone deficiency syndrome in patients with hypothalamopituitary diseases: Asian Indian data

    Directory of Open Access Journals (Sweden)

    Bandgar T

    2008-01-01

    Full Text Available Background: Hardly any data is available on Adult onset growth hormone deficiency (AOGHD in Patients with hypothalamopituitary diseases in India. Aims: To characterize Asian Indian AOGHD syndrome in hypothalamopituitary diseases. Settings and Design: Cross-sectional analysis of data from a tertiary care hospital. Materials and Methods: Thirty patients with AOGHD were compared with 30 age-, sex-, body mass index-matched controls with respect to endocrine evaluation, biochemistry, body composition (BC, bone mineral density (BMD, cardiovascular risk profile and quality of life (QoL. Statistical Analysis Used: Comparisons were performed using two-tailed Student′s test (SPSS Software version 10.0. Results: Most of the patients had abnormal BC with central obesity [Truncal FM (%: males {33.9±4.4 (patient vs. 29.31±6.2 (control; P -0.027}; females {39.87±5.93 (patient vs. 35.76±3.16 (control; P - 0.025}] and poor QoL. Patients aged over 45 years did not show low bone mass or lipid abnormalities as compared to controls. Low BMD and abnormal lipid profile {Triglycerides [mg/dl]:170.55±72.5 (patient vs101.24±31.0 (control; P -0.038}; {very low density lipoprotein cholesterol [mg/dl]: 33.54±14.9 (patient vs. 20.25±6.18 (control; P - 0.05} was seen in female patients less than 45 years of age. Conclusions: Male and female (more than 45 years AOGHD patients have increased cardiovascular risk factors and poor QoL while BMD is unaffected. Females less than 45 years of age have the major characteristics of AOGHD and would be the group to benefit maximally with recombinant human Growth Hormone treatment, which is similar to that in the western literature.

  7. Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family

    Directory of Open Access Journals (Sweden)

    Wei Wei Liu

    2011-01-01

    Full Text Available We have performed an analysis of a family with kidney-yang deficiency syndrome (KDS in order to determine the structural genomic variations through a novel approach designated as “copy number variants” (CNVs. Twelve KDS subjects and three healthy spouses from this family were included in this study. Genomic DNA samples were genotyped utilizing an Affymetrix 100 K single nucleotide polymorphism array, and CNVs were identified by Copy Number Algorithm (CNAT4.0, Affymetrix. Our results demonstrate that 447 deleted and 476 duplicated CNVs are shared among KDS subjects within the family. The homologus ratio of deleted CNVs was as high as 99.78%. One-copy-duplicated CNVs display mid-range homology. For two copies of duplicated CNVs (CNV4, a markedly heterologous ratio was observed. Therefore, with the important exception of CNV4, our data shows that CNVs shared among KDS subjects display typical Mendelian inheritance. A total of 113 genes with established functions were identified from the CNV flanks; significantly enriched genes surrounding CNVs may contribute to certain adaptive benefit. These genes could be classified into categories including: binding and transporter, cell cycle, signal transduction, biogenesis, nerve development, metabolism regulation and immune response. They can also be included into three pathways, that is, signal transduction, metabolic processes and immunological networks. Particularly, the results reported here are consistent with the extensive impairments observed in KDS patients, involving the mass-energy-information-carrying network. In conclusion, this article provides the first set of CNVs from KDS patients that will facilitate our further understanding of the genetic basis of KDS and will allow novel strategies for a rational therapy of this disease.

  8. Blood donors at high risk of transmitting the acquired immune deficiency syndrome.

    Science.gov (United States)

    Contreras, M; Hewitt, P E; Barbara, J A; Mochnaty, P Z

    1985-03-09

    The acquired immune deficiency syndrome (AIDS) occurs most commonly in homosexual men. This group carries the greatest risk of transmitting AIDS by blood transfusion. Both promiscuous and nonpromiscuous male homosexuals should refrain from giving blood. A leaflet stating this advice was prepared by the Department of Health and Social Security, United Kingdom. In July 1984 a questionnaire was given to all donors attending a blood donor clinic in the west end of London, England. 53% were male. Donors were given a leaflet on AIDS and a questionnaire to complete in private. Those who considered themselves to be in a high risk group were asked to designate their blood for research purposes only. Serum samples from donors who confirmed that they were in the high risk category were tested for antihepatitis B core antigen and anti-human T lymphotropic virus type III (anti-HTLV-III) in addition to the routine screening of donors for hepatitis B surface antigen and syphilis. All high risk donors were men. Homosexuality was the only high risk factor. Of 5000 questionnaires administered between July and October, 614 were not completed or had ambiguous answers. 38 donors who completed the questionnaire beonged to a high risk group. Of these, 7 were positive for antihepatitis B core antigen; none were positive for anti-HTLV-III, T pallidum hemagglatination, or hepatits B surface antigen. Although the homosexual donors had a much lower incidence of sexually transmitted disease than those attending special clinics, this should not encourage complacency. All possible measures must be taken to prevent homosexuals from donating blood.

  9. Clinical practice experience with testosterone treatment in men with testosterone deficiency syndrome.

    Science.gov (United States)

    McLaren, Drew; Siemens, D Robert; Izard, Jason; Black, Angela; Morales, Alvaro

    2008-11-01

    To report on a clinical practice series of testosterone-replacement therapy (TRT) in men with testosterone deficiency syndrome (TDS), examining clinical efficacy, biochemical parameters and effects on prostate health over a 2-year period. A retrospective review of 85 patients with symptoms of TDS and at least a 3-month trial of TRT was performed in this single-centre, clinical practice setting. Three domains of symptomatology were evaluated: libido, erectile function and energy levels. Symptoms were assessed by a combination of patient reporting, physician's assessment and validated symptom assessment scores. Total testosterone (TT), calculated bio-available testosterone (BT) and prostate-specific antigen (PSA) levels were continuously measured and effects on prostate health were examined. Only 38 (45%) patients in this cohort remained on TRT for >2 years. The most common reason for discontinuing treatment was lack of clinical response but those remaining on TRT had continued improvement in libido, erectile function and energy levels. During treatment, the average TT and calculated BT values significantly increased compared with the baseline values at most of the evaluated time points, with no significant change in average PSA values. In all, 15% of this cohort had some degree of progression of lower urinary tract symptoms. Seven patients had eight 'for-cause' prostate biopsies either during supplementation or at any date after completion, with an only three positive for cancer. Only 45% of men on TRT remained on treatment for >2 years in this clinical practice experience of men with TDS. Those remaining showed persistent improvement in their symptoms. The average TT and BT values increased significantly with no significant change in PSA levels.

  10. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

    Science.gov (United States)

    Perkins, Tiffany; Rosenberg, Jacob M; Le Coz, Carole; Alaimo, Joseph T; Trofa, Melissa; Mullegama, Sureni V; Antaya, Richard J; Jyonouchi, Soma; Elsea, Sarah H; Utz, Paul J; Meffre, Eric; Romberg, Neil

    Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder associated with recurrent otitis. Most SMS cases result from heterozygous interstitial chromosome 17p11.2 deletions that encompass not only the intellectual disability gene retinoic acid-induced 1 but also other genes associated with immunodeficiency, autoimmunity, and/or malignancy. The goals of this study were to describe the immunological consequence of 17p11.2 deletions by determining the prevalence of immunological diseases in subjects with SMS and by assessing their immune systems via laboratory methods. We assessed clinical histories of 76 subjects with SMS with heterozygous 17p11.2 deletions and performed in-depth immunological testing on 25 representative cohort members. Laboratory testing included determination of serum antibody concentrations, vaccine titers, and lymphocyte subset frequencies. Detailed reactivity profiles of SMS serum antibodies were performed using custom-made antigen microarrays. Of 76 subjects with SMS, 74 reported recurrent infections including otitis (88%), pneumonia (47%), sinusitis (42%), and gastroenteritis (34%). Infections were associated with worsening SMS-related neurobehavioral symptoms. The prevalence of autoimmune and atopic diseases was not increased. Malignancy was not reported. Laboratory evaluation revealed most subjects with SMS to be deficient of isotype-switched memory B cells and many to lack protective antipneumococcal antibodies. SMS antibodies were not more reactive than control antibodies to self-antigens. Patients with SMS with heterozygous 17p.11.2 deletions display an increased susceptibility to sinopulmonary infections, but not to autoimmune, allergic, or malignant diseases. SMS sera display an antibody reactivity profile favoring neither recognition of pathogen-associated antigens nor self-antigens. Prophylactic strategies to prevent infections may also provide neurobehavioral benefits to selected patients with SMS. Copyright © 2017

  11. Epidemiology of Acquired Immune Deficiency Syndrome and Cerebrovascular Disease in a Post Antiretroviral Era.

    Science.gov (United States)

    Kucab, Phillip; Bhattacharya, Pratik

    2017-06-01

    People with acquired immune deficiency syndrome (AIDS) develop ischemic stroke through distinct mechanisms. These include infections such as syphilis, tuberculosis, varicella, and other conditions such as cocaine abuse, endocarditis, and hypercoagulability. The effect of improved awareness, detection, and treatment with highly active antiretroviral therapy (HAART) on the incidence and outcome of AIDS patients with stroke is unknown. Data from the Nationwide Inpatient Sample from 1995 to 2010 were analyzed. Patients with ischemic stroke and AIDS were identified using ICD-9 (International Classification of Diseases) codes. Time trends for demographics, survival, and frequency of AIDS-associated conditions were analyzed. Proportion of AIDS among stroke patients increased significantly during the study. Median age of all strokes decreased from 75 years in 1995 to 72 years in 2010. Conversely, median age for men with stroke and AIDS increased from 43 years to 53 years; and for women with stroke and AIDS, from 41 years to 51 years. Death rates from stroke in the AIDS patients declined. In recent years, the death rates from stroke are similar to patients without HIV/AIDS. Stroke patients with AIDS had increased odds of syphilis (odds ratio [OR]: 33.50), varicella (OR: 48.34), tuberculosis (OR: 137.48), endocarditis (OR: 5.19), cocaine abuse (OR: 26.05), and hypercoagulability (OR: 4.82). In the HAART era, the median age of incident stroke in AIDS has increased and the mortality from stroke has improved. Research should focus on optimal management of dyslipidemia while on HAART. Whether HAART can reduce the incidence and improve survival of stroke needs to be explored. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  12. Correlation of diagnostic imaging and autopsy findings of eight patients with acquired immune deficiency syndrome

    International Nuclear Information System (INIS)

    Li Hongjun; Zhang Yuzhong; Cheng Jingliang

    2009-01-01

    Objective: To investigate the imaging findings with pathologic correlation in patients with acquired immune deficiency syndrome (AIDS). Methods: Imaging findings, autopsy and pathological data were retrospectively analyzed in eight patients with AIDS. Routine CT scanning of different body parts was performed during their hospitalization. CT scanning was performed from the skull to the pelvis immediately following their death. After routine formalin fixing, 7 cadavers were cross sectioned for autopsy in freezing state and 1 for gross autopsy. Tissues were obtained from each sections and organs for pathological examinations. Results: The autopsy data showed parasitic infections (5 cases), bacterial infections (3 cases), fungal infections (2 cases), virus infections (2 cases), lymphoma (1 case) and cerebrovascular diseases (1 case)in eight patients with AIDS. The CT scanning demonstrated symmetrical ground glass liked shadows with pulmonary hilus as the center in 5 cases of pulmonary PCP infection; pulmonary patchy shadows, scattering distribution of nodular shadows, extensive military nodular shadows with even distribution and tuberculous pleurisy; cloudy shadows for 2 cases of fungi infection with multiple foci of chronic inflammation; pulmonary net-like parenchymal changes for 2 cases of pulmonary CMV infection; thickened intestinal wall and narrowed intestinal lumen for 1 case of intestinal tumor; low density shadows of brain tissue for 1 case of CMV encephalitis and MRI findings of high T 1 and high T 2 signals as well as MRA findings of broken vascular channels in liquefied areas of brain tissues; patchy low density areas inside a cyst of brain for one case of brain toxoplasmosis infection; multiple small patchy low density areas in cerebral basal ganglia for one case of brain cryptococcus infection. Conclusions: In AIDS patients, infection and tumor may occur in various organs resulting in complex symptoms, which makes it more complicated and difficult to make

  13. Alterations in the gut microbiota of patients with acquired immune deficiency syndrome.

    Science.gov (United States)

    Zhou, Youlian; Ou, Zhitao; Tang, Xiaoping; Zhou, Yongjian; Xu, Haoming; Wang, Xianfei; Li, Kang; He, Jie; Du, Yanlei; Wang, Hong; Chen, Ye; Nie, Yuqiang

    2018-02-07

    Acquired immune deficiency syndrome (AIDS), caused by infection with human immunodeficiency virus (HIV), is associated with gastrointestinal disease, systemic immune activation and changes in the gut microbiota. Here, we aim to investigate the gut microbiota patterns of HIV-infected individuals and HIV-uninfected individuals in populations from South China. We enrolled 33 patients with HIV (14 participants treated with highly active antiretroviral therapy [HAART] for more than 3 months; the remaining 19 individuals had not received treatment) and 35 healthy controls (HC) for a cross-sectional comparison of gut microbiota using stool samples. Gut microbial communities were profiled by sequencing the bacterial 16S rRNA genes. Dysbiosis was more common among patients with AIDS compared with healthy individuals. Dysbiosis was characterized by decreased α-diversity, low mean counts of Bacteroidetes, Faecalibacterium, Prevotella, Bacteroides vulgatus, Dialister and Roseburia inulnivorans, and high mean counts of Proteobacteria, Enterococcus, Streptococcus, Lactobacillus, Lachnociostridium, Ruminococcus gnavus and Streptococcus vestibularis. Increased abundance of Bacilli was observed in homosexual patients. Proteobacteria were higher among heterosexual patients with HIV infections. Tenericutes were higher among patients with history of intravenous drug abuse. Restoration of gut microbiota diversity and a significant increase in abundance of Faecalibacterium, Blautia and Bacteroides were found in patients receiving HAART compared to those who did not receive. HIV infection-associated dysbiosis is characterized by decreased levels of α-diversity and Bacteroidetes, increased levels of Proteobacteria and the alterations of gut microbiota correlate with the route of HIV transmission. The imbalanced faecal microbiota of HIV infection is partially restored after therapy. © 2018 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and

  14. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

    Science.gov (United States)

    Accogli, Andrea; Hamdan, Fadi F; Poulin, Chantal; Nassif, Christina; Rouleau, Guy A; Michaud, Jacques L; Srour, Myriam

    2018-04-01

    Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype. Using whole-exome sequencing, we identified a novel homozygous mutation (c.991C>T, p.Q331*, NM_006594.4) in AP4B1 in two siblings from a consanguineous Pakistani couple, who presented with severe ID, progressive spastic tetraplegia, epilepsy, and microcephaly. Sanger sequencing confirmed the mutation was homozygous in the siblings and heterozygous in the parents. Similar to previously reported individuals with AP4B1 mutations, brain MRI revealed ventriculomegaly and white matter loss. Interestingly, in addition to the typical facial gestalt reported in other AP-4 deficiency cases, the older brother presented with congenital left Horner syndrome, bilateral optic nerve atrophy and cataract, which have not been previously reported in this condition. In summary, we report a novel AP4B1 homozygous mutation in two siblings and review the phenotype of AP-4 deficiency, speculating on a possible role of AP-4 complex in eye development. © 2018 Wiley Periodicals, Inc.

  15. Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

    NARCIS (Netherlands)

    Basel-Vanagaite, Lina; Rainshtein, Limor; Inbar, Dov; Gothelf, Doron; Hennekam, Raoul; Straussberg, Rachel

    2007-01-01

    We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven

  16. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

    Science.gov (United States)

    Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

    2013-08-01

    Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

  17. Risk of depression and other mental health disorders in women with polycystic ovary syndrome: a longitudinal study.

    Science.gov (United States)

    Kerchner, Angela; Lester, Whitney; Stuart, Scott P; Dokras, Anuja

    2009-01-01

    To determine the conversion risk and predictors for depression in women with polycystic ovary syndrome. Prospective longitudinal study. University practice. Subjects with polycystic ovary syndrome who had participated in a previous study. None. The Primary Care Evaluation of Mental Disorders Patient Health Questionnaire was used to diagnose major depressive disorder and other depressive syndromes, anxiety syndromes, and binge eating disorder. Subjects completed a questionnaire on knowledge about polycystic ovary syndrome and treatment satisfaction. A total of 60 of 103 subjects responded to the second survey. Mean time between the two surveys was 22 months (range 12-26 months). The overall prevalence of depression was 40% (24/60). Of these, 10 women screened positive for major depressive disorder or other depressive syndromes and 14 were receiving antidepressant medications. There were 11 new cases identified in the second survey (19% conversion). Total subjects with mood disorders in this study were 34/60 (56.6%), including 11.6% with anxiety syndromes and 23.3% with binge eating disorder. Difficulties with menstrual function, fertility, and body image (weight, hirsutism, acne) were not significantly different in women with and without depression. There is a significant risk for mood disorders (defined by the Diagnostic and Statistical Manual of Mental Disorders-IV) in women with polycystic ovary syndrome. This finding together with a high conversion risk for depression over a 1- to 2-year period underscores the importance of routine screening and aggressive treatment of mental health disorders in this population.

  18. Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

    Science.gov (United States)

    Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

    2008-09-01

    Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

  19. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

    Science.gov (United States)

    Hermanns, Pia; Unger, Sheila; Rossi, Antonio; Perez-Aytes, Antonio; Cortina, Hector; Bonafé, Luisa; Boccone, Loredana; Setzu, Valeria; Dutoit, Michel; Sangiorgi, Luca; Pecora, Fabio; Reicherter, Kerstin; Nishimura, Gen; Spranger, Jürgen; Zabel, Bernhard; Superti-Furga, Andrea

    2008-06-01

    Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

  20. Ascertainment of iron deficiency and depletion in blood donors through screening questions for pica and restless legs syndrome.

    Science.gov (United States)

    Bryant, Barbara J; Yau, Yu Ying; Arceo, Sarah M; Hopkins, Julie A; Leitman, Susan F

    2013-08-01

    Pica and restless legs syndrome (RLS) are associated with iron depletion and deficiency. The presence of pica and RLS was prospectively assessed in blood donors. During a 39-month period, 1236 donors deferred for fingerstick hemoglobin (Hb) level of less than 12.5 g/dL and 400 nondeferred "control" donors underwent health screening and laboratory testing (complete blood count, ferritin, iron, transferrin). Pica and RLS were assessed by direct questioning. Deferred donors and iron-deficient control donors were given 325 mg of ferrous sulfate daily for 60 days. Reassessments were performed and additional iron tablets dispensed at subsequent visits. Pica was reported in 11% of donors with iron depletion or deficiency, compared with 4% of iron-replete donors (p Pagophagia (ice pica) was most common and often of extraordinary intensity. Female sex, younger age, and lower mean cell volume and transferrin saturation values were strongly associated with pica. Donors with pica given iron reported a marked reduction in the desire to consume the nonnutritive substance by Days 5 to 8 of therapy, with disappearance of symptoms by Days 10 to 14. RLS was reported in 16% of subjects with iron depletion or deficiency compared with 11% of iron-replete donors (p = 0.012). Iron replacement generally resulted in improvement of RLS symptoms; however, at least 4 to 6 weeks of iron therapy was necessary. The presence of pica is associated with a high probability of iron depletion or deficiency in blood donors; however, RLS lacks a strong correlation in this population. Screening questions for pagophagia may be useful in the ascertainment of iron deficiency in donors and may identify those who would benefit from oral iron. © 2013 American Association of Blood Banks.

  1. The Relationship between Iron Deficiency and Restless Legs Syndrome in Hemodialysis Patients

    Directory of Open Access Journals (Sweden)

    R Ghanei Gheshlagh

    2012-10-01

    Full Text Available Introduction: Restless legs syndrome is a neurological disorder; hemodialysis patients seem to suffer more from this syndrome. Although the pathophysiology of restless legs syndrome is still unknown, assessment of factors associated with this syndrome can help to develop medical knowledge in this field. The present study assessed the relationship between restless legs syndrome, serum iron, and serum ferritin levels in patients on hemodialysis. Methods: This descriptive study was carried out with purposive sampling method on 168 hemodialysis patients who referred to the Urmia Taleghani Hospital Hemodialysis Unit. Data were gathered using restless legs syndrome questionnaire and laboratory Index of serum iron and ferritin. Data were analyzed using descriptive and inferential statistical tests. Results: The study results revealed that 38.7 percent of samples complained from restless legs syndrome whose average score serum iron was 78±29.3 μg. Results showed in hemodialysis patients with restless legs syndrome, serum iron and serum ferritin levels were significantly lower than hemodialysis patients without restless legs syndrome (p=0. 02, p=0.005. Conclusion: Considering the high prevalence of restless legs syndrome in patients with hemodialysis, identification of factors associated with this syndrome and providing the necessary solutions for modifying or eliminating the factors, seem to be necessary. Since the relationship between indicators of iron and ferritin and restless legs syndrome in hemodialysis patients is confirmed, the results can be helpful in the treatment and management of these patients.

  2. Role of PCSK9 and IDOL in the pathogenesis of acquired LDL receptor deficiency and hypercholesterolemia in nephrotic syndrome.

    Science.gov (United States)

    Liu, Shuman; Vaziri, Nosratola D

    2014-03-01

    Nephrotic syndrome (NS) leads to elevation of serum total and LDL cholesterol. This is largely due to impaired LDL clearance, which is caused by hepatic LDL receptor (LDLR) deficiency despite normal LDLR mRNA expression, pointing to a post-transcriptional process. The mechanism(s) by which NS causes LDLR deficiency is not known. By promoting degradation of LDLR, Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) and inducible degrader of the LDL receptor (IDOL) play a major role in post-translational regulation of LDLR. We, therefore, tested the hypothesis that LDLR deficiency despite its normal gene expression in NS may be due to upregulation of hepatic PCSK9 and IDOL. LDLR, IDOL and PCSK9 expressions and nuclear translocation of liver X receptor (LXR) that regulates IDOL expression were determined in the liver of rats with puromycin-induced NS and control (CTL) rats. Compared with the CTLs, the NS rats showed marked elevation of serum total and LDL cholesterol and a significant reduction in hepatic LDLR protein expression. This was accompanied by marked upregulation of hepatic PCSK9 and IDOL expressions and heightened LXR activation. LDLR deficiency, hypercholesterolemia and elevated plasma LDL in NS are associated with upregulation of PCSK9 and IDOL. Interventions targeting these pathways may be effective in the management of hypercholesterolemia and the associated cardiovascular and other complications of NS.

  3. Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.

    Science.gov (United States)

    Sheth, Jayesh J; Sheth, Frenny J; Bhattacharya, Raktima

    2002-01-01

    In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.

  4. To screen or not to screen? Vitamin D deficiency in chronic mental illness.

    Science.gov (United States)

    Goluza, Ivana; Borchard, Jay; Wijesinghe, Nalin; Wijesinghe, Kishan; Pai, Nagesh

    2018-02-01

    The objective of the current study was to examine the pathology test utilisation of 25-hydroxyvitamin D (25(OH)D) within an Australian inpatient psychiatric setting. A retrospective audit of 300 random hospital files of those admitted as inpatients between Nov 2014 and Nov 2015 was undertaken. Data was quantitatively analysed and described. The number of inpatients who had a vitamin D determination during their admission was 37/300 (12.33%). The mean vitamin D level of those tested was 51.63 nmol/l. Of those that were tested, 18/37 (48.6%) were mildly to moderately deficient. There was a statistically significant difference in age and length of stay between those that were and were not tested for vitamin D levels, p-value <0.001 and 0.017, respectively. In addition, a simple linear regression indicated a weak association between length of stay and vitamin D levels. This audit highlights vitamin D screening inadequacy. More research is recommended to establish tangible benefits of supplementation, while local practice provides valuable data for education and policy purposes.

  5. X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Morava, E.; Storcz, J.; Kosztolanyi, G. [Univ. Medical School, Pecs (Hungary)

    1996-07-12

    We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. supports their suggestion that these patients are representative of a distinct entity. 8 refs., 3 figs., 1 tab.

  6. Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

    Science.gov (United States)

    Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

    2017-06-01

    Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

  7. STDP and mental retardation: dysregulation of dendritic excitability in Fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Rhiannon M Meredith

    2010-06-01

    Full Text Available Development of cognitive function requires the formation and refinement of synaptic networks of neurons in the brain. Morphological abnormalities of synaptic spines occur throughout the brain in a wide variety of syndromic and non-syndromic disorders of mental retardation (MR. In both neurons from human post-mortem tissue and mouse models of retardation, the changes observed in synaptic spine and dendritic morphology can be subtle, in the range of 10-20% alterations for spine protrusion length and density. Functionally, synapses in hippocampus and cortex show deficits in long-term potentiation (LTP and long-term depression (LTD in an array of neurodevelopmental disorders including Down’s, Angelman, Fragile X and Rett syndrome. Recent studies have shown that in principle the machinery for synaptic plasticity is in place in these synapses, but that significant alterations in spike-timing-dependent plasticity (STDP induction rules exist in cortical synaptic pathways of Fragile X MR syndrome. In this model, the threshold for inducing timing-dependent long-term potentiation (tLTP is increased in these synapses. Increased postsynaptic activity can overcome this threshold and induce normal levels of tLTP. In this review, we bring together recent studies investigating STDP in neurodevelopmental learning disorders using Fragile X syndrome as a model and we argue that alterations in dendritic excitability underlie deficits seen in STDP. Known and candidate dendritic mechanisms that may underlie the plasticity deficits are discussed. Studying STDP in monogenic MR syndromes with clear deficits in information processing at the cognitive level also provides the field with an opportunity to make direct links between cognition and processing rules at the synapse during development.

  8. Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.

    Science.gov (United States)

    Pichler, Robert; Stelzer, Christoph; Berg, Jörg; Holzinger, Carl; Eckl, Katja Martina; Hennies, Hans Christian; Auböck, Josef

    2005-06-01

    A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hypercholesterinemia with concommitant arcus cornealis and biliary concrements. Renal lithiasis caused by calcio-oxalate was additionally present. Endocrinological screening revealed growth hormone deficiency in the 1.55 m tall man-(secondary) osteoporosis was observed. The clinical symptomatology indicates that this case cannot be considered as a subtype of the inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity.

  9. The role of nuclear medicine in the evaluation of the patient with acquired immune deficiency syndrome (AIDS)

    International Nuclear Information System (INIS)

    Mali, Mrinal; Freeman, L.M.

    1991-01-01

    The Acquired Immuno-deficiency Syndrome (AIDS) was first recognized in the spring of 1981 in New York and California by the centers for Disease Control (CDC). Subsequently there have been numerous invasive and non-invasive methods proposed for the early diagnosis and treatment of this usually fatal disorder. This article reviews the ongoing role of nuclear medicine in the diagnosis of HIV infection and HIV related diseases over the last decade as well as some recently introduced radionuclide investigations that are still in the realm of 'work in progress'. (author). 49 refs.; 4 figs.; 2 tabs

  10. A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.

    Science.gov (United States)

    Dundar, M; Ozdemir, S Y; Fryns, J P

    2012-01-01

    In this report we present two brothers with abnormal neurological development, hypotonia, short stature, pylorus stenosis, pectus excavatum, brachycephaly due to craniosynostosis, frontal bossing, depressed nasal bridge, high arched-wide palate, downslant palpebral fissures, low-set, large ears, thin upper lip and bilateral cryptorchidism. The brothers were born to a couple of second cousins and were the third and fourth pregnancies of the mother. The father, the mother and the eldest sibling were phenotypically and chromosomally normal. The clinical findings of the brothers were found to be similar. These clinical findings were compared with syndromes showing some of the symptoms, namely Apert, FG, Floating-Harbor, Shprintzen-Goldberg and Rett Syndromes. However, when the findings were detailed, we observed that they did not match completely any of the syndromes in a discernable way. The MECP2 gene mutation was analysed because of mental retardation, poor neurological evolution and large ears, but no mutation was found. So these cases are presented as a new syndrome with apparent autosomal recessive inheritance.

  11. Vitamin D deficiency is associated with impaired disease control in asthma–COPD overlap syndrome patients

    Directory of Open Access Journals (Sweden)

    Odler B

    2015-09-01

    Full Text Available Balázs Odler,1 István Ivancsó,1 Vivien Somogyi,1 Kálmán Benke,2 Lilla Tamási,1 Gabriella Gálffy,1 Balázs Szalay,3 Veronika Müller11Department of Pulmonology, 2Heart and Vascular Centre, 3Department of Laboratory Medicine, Semmelweis University, Budapest, HungaryIntroduction: The association between vitamin D and clinical parameters in obstructive lung diseases (OLDs, including COPD and bronchial asthma, was previously investigated. As asthma–COPD overlap syndrome (ACOS is a new clinical entity, the prevalence of vitamin D levels in ACOS is unknown.Aim: Our aim was to assess the levels of circulating vitamin D (25-hydroxyvitamin D [25(OHD] in different OLDs, including ACOS patients, and its correlation with clinical parameters.Methods: A total of 106 men and women (control, n=21; asthma, n=44; COPD, n=21; and ACOS, n=20 were involved in the study. All patients underwent detailed clinical examinations; disease control and severity was assessed by disease-specific questionnaires (COPD assessment test, asthma control test, and modified Medical Research Council; furthermore, 25(OHD levels were measured in all patients.Results: The 25(OHD level was significantly lower in ACOS and COPD groups compared to asthma group (16.86±1.79 ng/mL and 14.27±1.88 ng/mL vs 25.66±1.91 ng/mL. A positive correlation was found between 25(OHD level and forced expiratory volume in 1 second (r=0.4433; P<0.0001, forced vital capacity (FVC (r=0.3741; P=0.0004, forced expiratory flow between 25% and 75% of FVC (r=0.4179; P<0.0001, and peak expiratory flow (r=0.4846; P<0.0001 in OLD patient groups. Asthma control test total scores and the 25(OHD level showed a positive correlation in the ACOS (r=0.4761; P=0.0339 but not in the asthma group. Higher COPD assessment test total scores correlated with decreased 25(OHD in ACOS (r=-0.4446; P=0.0495; however, this was not observed in the COPD group.Conclusion: Vitamin D deficiency is present in ACOS patients and

  12. Vitamin D deficiency is associated with impaired disease control in asthma-COPD overlap syndrome patients.

    Science.gov (United States)

    Odler, Balázs; Ivancsó, István; Somogyi, Vivien; Benke, Kálmán; Tamási, Lilla; Gálffy, Gabriella; Szalay, Balázs; Müller, Veronika

    2015-01-01

    The association between vitamin D and clinical parameters in obstructive lung diseases (OLDs), including COPD and bronchial asthma, was previously investigated. As asthma-COPD overlap syndrome (ACOS) is a new clinical entity, the prevalence of vitamin D levels in ACOS is unknown. Our aim was to assess the levels of circulating vitamin D (25-hydroxyvitamin D [25(OH)D]) in different OLDs, including ACOS patients, and its correlation with clinical parameters. A total of 106 men and women (control, n=21; asthma, n=44; COPD, n=21; and ACOS, n=20) were involved in the study. All patients underwent detailed clinical examinations; disease control and severity was assessed by disease-specific questionnaires (COPD assessment test, asthma control test, and modified Medical Research Council); furthermore, 25(OH)D levels were measured in all patients. The 25(OH)D level was significantly lower in ACOS and COPD groups compared to asthma group (16.86±1.79 ng/mL and 14.27±1.88 ng/mL vs 25.66±1.91 ng/mL). A positive correlation was found between 25(OH)D level and forced expiratory volume in 1 second (r=0.4433; P<0.0001), forced vital capacity (FVC) (r=0.3741; P=0.0004), forced expiratory flow between 25% and 75% of FVC (r=0.4179; P<0.0001), and peak expiratory flow (r=0.4846; P<0.0001) in OLD patient groups. Asthma control test total scores and the 25(OH)D level showed a positive correlation in the ACOS (r=0.4761; P=0.0339) but not in the asthma group. Higher COPD assessment test total scores correlated with decreased 25(OH)D in ACOS (r=-0.4446; P=0.0495); however, this was not observed in the COPD group. Vitamin D deficiency is present in ACOS patients and circulating 25(OH)D level may affect disease control and severity.

  13. A Impossibilidade da União Estável do Deficiente Mental: uma Crítica ao Estatuto da Pessoa com Deficiência

    OpenAIRE

    Graziuso, Bruna Kern

    2016-01-01

    A curatela sempre visou proteger a pessoa maior, padecente de alguma incapacidade ou de certa circunstância que impeça a sua livre e consciente manifestação de vontade. Diante da interdição, sendo o sujeito absolutamente incapaz, não poderia contrair matrimônio com outrem. O Estatuto da Pessoa com Deficiência (Lei 13.146/2015) introduziu diversas alterações no ordenamento jurídico. Os portadores de deficiência mental passam a ter plena capacidade, podendo inclusive casar e constituir união es...

  14. Familias con deficiencia mental educable: riesgo y salud familiar Familias com deficiências mentais educáveis: riscos e saúde familiar Families with educable mental deficiencies: Risks and family health

    Directory of Open Access Journals (Sweden)

    Gloria S Urbano Franco

    2011-12-01

    Full Text Available El conocimiento de la familia es esencial para su cuidado, máxime si algunos de sus miembros requieren de protección permanente porque sufren Deficiencia Mental Educable (DME. Objetivo: Determinar el Riesgo Familiar Total (RFT y el Grado de Salud Familiar (GSF de las familias con uno o más miembros con DME, de un Centro Educativo Distrital de Bogotá, 2007-2009. Esta investigación se apoya en las teorías de Riesgo Familiar Total de Amaya y Organización Sistémica de Friedemann. Metodología: Estudio descriptivo, cuantitativo, con n = 129 familias evaluadas con los instrumentos: "Riesgo Familiar Total: RFT: 6-69" y "Grado de Salud Familiar ISF: GEN-25" de Amaya. Resultados: Se encontraron 77% de familias nucleares (nucleares o nucleares modificadas en proporciones parecidas, con 66 % de sus miembros dependientes por edad o DME. El RFT calificó a las familias amenazadas en un 22% de la muestra y riesgo alto de 2%. El ISF: GEN-25 mostró que el 21% fueron clasificadas como familias organizadas, 34% como poco organizadas y 28% como poco satisfechas, aunque 43% mostraban que eran altamente organizadas, solo 27% estaban satisfechas. Conclusión: Por los riesgos descritos, la baja organización o la poca satisfacción, las familias requieren apoyo inmediato para mitigar los riesgos y asesoría de Enfermería en Salud Mental para mejorar la organización y satisfacción. Paralelamente, todas las familias, por su particularidad asociada con la presencia de DME, requieren de cuidado permanente y asesoría para cubrir las demandas de protección contra amenaza de crisis.Oconhecimento da família é essencial para seu cuidado, principalmente quando algum dos membros dela requer proteção permanente por causa de uma Deficiência Mental Educável (DME. Objetivo: Determinar o Risco Familiar Total (RTF e o Grau de Saúde Familiar (GSF das famílias que têm dois ou mais membros com DME, de um Centro Educacional Distrital de Bogotá, 2007-2009. Esta

  15. [Relationship between intestinal mucosal inflammation and mental disorders in patients with irritable bowel syndrome].

    Science.gov (United States)

    Hao, Jing-xin; Han, Mai; Duan, Li-ping; Han, Ya-jing; Ge, Ying; Huang, Yue-qin

    2012-08-28

    To examine the relationship between inflammation and the comorbidity of mental disorders with irritable bowel syndrome (IBS) by comparing intestinal mucosa inflammatory biomarkers in patients with and without mental disorders. A total of 43 consecutive IBS patients fulfilling the Rome III criteria and 15 volunteers serving as controls without digestive symptoms were recruited and interviewed with Composite International Diagnostic Interview (CIDI) by the well-trained staff and thus classified as with or without mental disorders. All subjects underwent colonoscopy and biopsies were acquired from the mucosa of distal ileum and colon. CD3(+) lymphocytes, mast cells, 5-HT positive cells and (indoleamine 2,3-dioxygenase) IDO positive cells were identified immunohistologically in mucosa biopsies in volunteers (n = 13), IBS patients without mental disorder (n = 24) and IBS patients with mental disorder (n = 19). The incidence of mental disorders in IBS patients was significantly higher than that in the volunteers (19/43 vs 2/15, P = 0.012), including 9 patients with anxiety disorders and 8 with mood disorders. (1) The number of mast cells in IBS patients with mental disorder and that in IBS patients without mental disorder has no statistical significance ((16.7 ± 3.6)/HP vs (15.4 ± 3.1)/HP in distal ileum, (12.8 ± 2.2)/HP vs (12.3 ± 2.5)/HP in sigmoid, both P > 0.05). Similar results were seen in 5-HT positive cells ((3.7 ± 0.9)/HP vs (3.4 ± 0.8)/HP in distal ileum, (6.1 ± 1.8)/HP vs (5.2 ± 1.8)/HP in sigmoid, both P > 0.05). In distal ileum, the number of CD3(+) cells in IBS patients with mental disorder has no statistical significance with that in the IBS patients without mental disorder ((62 ± 16)/HP vs (55 ± 22)/HP, P > 0.05). Similar results were seen in IDO positive cells (6(2, 8)/HP vs 2(1, 5)/HP, P > 0.05). (2) The number of IDO positive cells from distal ileum in IBS patients with anxiety disorder was significantly higher than that in the IBS patients

  16. Occurrence of erectile dysfunction, testosterone deficiency syndrome and metabolic syndrome in patients with abdominal obesity. Where is a sufficient level of testosterone?

    Science.gov (United States)

    Fillo, Juraj; Breza, Jan; Levčíkova, Michaela; Luha, Jan; Vachulova, Anna; Durdík, Štefan; Labaš, Peter

    2012-08-01

    The aim of this study was to determine the prevalence of erectile dysfunction (ED), testosterone deficiency syndrome (TDS), and metabolic syndrome in patients with abdominal obesity (AO) and the prevalence of morbidity at different levels of testosterone (TST). Male sex hormones play an important role in ED and variety of TDS and may have influence on the development of metabolic syndrome. The number of men with AO which constitutes a serious health risk is continuously growing. Currently, there are different views that TST levels are already insufficient, and the patient should benefit from treatment. This study examined the association between ED, testosterone level and metabolic syndrome in men with AO. The study was carried out in an outpatient urology center of Urology Clinic and Obesity Center of the Clinic of Internal Medicine. There were 167 participants—men with AO which were examined as part of preventive examination. Hormonal, a complete urological and internal evaluation was carried out in every patient. We found some degree of ED in 73% (122/167) in men with AO. The TST levels below 14 nmol/l had of these 122 patients 84 patients (68.9%) and 49 patients (40.2%) below 10 nmol/l. In this group of patients, we found 103/167 patients (61.7%) with metabolic syndrome. When we compared TST level and morbidity, we found significantly more patients with diabetes mellitus (DM), hypertension and dyslipidemia in group with TST below 10 nmol/l. We also found difference in the levels of HDL cholesterol and triglycerides in the group of patients with TST 10–14 and over 14 nmol/l. Patients over 40 years of age with AO and ED should also be examined for TDS and metabolic syndrome. In this group of patients we found that 113/167 patients (67.6%) had total TST below 14 nmol/l, and sufficient level of TST seems to be above this level.

  17. Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

    Science.gov (United States)

    Basel-Vanagaite, Lina; Rainshtein, Limor; Inbar, Dov; Gothelf, Doron; Hennekam, Raoul; Straussberg, Rachel

    2007-08-01

    We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven had anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. None of the sibs with normal intelligence had jaw or dental anomalies. The child with MR but without a jaw anomaly was somewhat less severely retarded, had seizures and severe psychosis, which may point to his having a separate disorder. Biochemical and neurological studies, including brain MRI and standard cytogenetic studies, yielded normal results; fragile X was excluded, no subtelomeric rearrangements were detectable, and X-inactivation studies in the mother showed random inactivation. We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus). (c) 2007 Wiley-Liss, Inc.

  18. Triangles, tricks and tics: Hyper-mentalizing in response to animated shapes in Tourette syndrome.

    Science.gov (United States)

    Eddy, Clare M; Cavanna, Andrea E

    2015-10-01

    Tourette syndrome (TS) can feature complex tics involving socially inappropriate behaviours. Adults with TS can also demonstrate differences to healthy controls when reasoning about mental states. This study investigated spontaneous mentalizing in TS. Twenty adults with TS and twenty healthy controls completed the animations task. Participants were asked to watch short ambiguous animations involving two triangles and describe what was happening. Some animations featured random movement of the triangles, while others depicted social interactions that were simple (e.g., dancing) or more complex (e.g., one triangle tricking the other). Measures were taken of executive functions, alexithymia and clinical symptoms. Individuals with TS responded similarly to controls when viewing animations featuring simple and complex interactions, demonstrating intact mentalizing ability. However, significant group differences were apparent for the random movement animations. TS was associated with a greater tendency to attribute mental states during this condition, and to describe random movements as motivated actions guided by the intentions of the triangles. There were no group differences for the alexithymia scale, but TS was associated with mild executive deficits. No relationships were apparent between animation responses and other measures. Our findings suggest that TS is associated with a propensity to adopt the intentional stance. Hyper-mentalizing in TS could be linked to both dopamine dysfunction and altered social behaviour, whereby amplified salience of social cues could contribute to the complex interplay between environmental context and tic expression. These observations may offer further insight into the potential effects of dopamine dysfunction on social cognition. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.

    Science.gov (United States)

    Randall, Morgan; Rolf, Cristin; Gibson, Stephanie Mayfield; Hall, Patricia L; Rinaldo, Piero; Davis, Gregory J

    2015-07-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare but important component of the differential diagnosis for adults with a history of premortem mental status changes and the postmortem finding of hepatic steatosis. This case report describes a 30-year-old white man who, following a period of nausea and vomiting, was admitted to the hospital with sudden mental status deterioration followed rapidly by clinical deterioration and death. Treating physicians in this case suspected acute illicit drug toxicity with synthetic cathinones based on social history. Clinicians and medical examiners should be aware that the presentation, signs, and symptoms described may indicate an underlying inborn error of metabolism such as MCAD deficiency and take action accordingly. © 2015 American Academy of Forensic Sciences.

  20. A severe H7N9 pneumonia with syndrome of inappropriate antidiuresis and vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Leng Lin

    2014-01-01

    Conclusions: Some H7N9 pneumonia could cause SIAD. Early detection and appropriate treatment of SIAD in H7N9 pneumonia might be important. Our patient showed vitamin D deficiency and decline of cellular immune function.

  1. Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness.

    Science.gov (United States)

    Parolin, Giulia; Drigo, Paola; Toldo, Irene; Boniver, Clementina; Gatta, Michela; Burlina, Alberto; Laverda, Anna Maria; Sartori, Stefano

    2011-01-01

    Glucose transporter type 1 deficiency syndrome is an inborn error of glucose transport across the blood-brain barrier with hypoglychorrachia. Patients usually present developmental delay, movement disorders, seizures, and acquired microcephaly, variously associated and leading to different phenotypes. We report a 3-year-old girl affected by glucose transporter type 1 deficiency syndrome with carbohydrate responsiveness. Her history was characterized by worsening of ataxia with an increasing interval to the last food intake, occurrence of seizures in the morning before breakfast, slowing of electroencephalogram (EEG) background activity with the appearance of epileptiform discharges during preprandial recordings, and improvement of the electroclinical picture after food intake. By adding a new case to the pertinent literature, we stress the role of pre- and postprandial EEG recordings for the identification of individuals potentially affected by glucose transporter type 1 deficiency syndrome. We also provide a possible physiopathological interpretation of EEG changes related to food intake.

  2. Antipsychotic discontinuation syndromes: a narrative review of the evidence and its integration into Australian mental health nursing textbooks.

    Science.gov (United States)

    Salomon, Carmela; Hamilton, Bridget

    2014-02-01

    In light of the high number of people discontinuing antipsychotics each year, it is essential that nurses develop a robust understanding of all aspects of the discontinuation experience. While there is a large body of published work documenting post-discontinuation relapse rates, less is known about other aspects of the discontinuation experience. This paper presents the results of a narrative review of international studies of antipsychotic discontinuation syndromes and their relevance to nursing practice. Four key mental health nursing textbooks used in student nurse education in Australia are examined to assess how this evidence has been incorporated into clinical recommendations. This review finds that the evidence for discontinuation syndromes could be more widely disseminated and applied than it is at present. Strikingly, this evidence has not been incorporated into key mental health nursing textbooks in Australia at all. Slow integration into nursing published work may be influenced by a number of clinical and research uncertainties. We consider the impact of this silence on key nursing roles of psycho-education and adverse event monitoring during antipsychotic discontinuation periods. Further robust research should be conducted into discontinuation syndromes as a matter of urgency. Given the high number of consumers potentially impacted upon by discontinuation syndromes, nurse authors and educators should consider revising key nursing textbooks to include the currently available information about discontinuation syndromes. © 2012 The Authors; International Journal of Mental Health Nursing © 2012 Australian College of Mental Health Nurses Inc.

  3. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive men...

  4. Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome

    NARCIS (Netherlands)

    Blom, Nico A.; Ottenkamp, Jaap; Wenink, Arnold G. C.; Gittenberger-de Groot, Adriana C.

    2003-01-01

    Data on the morphogenesis of atrioventricular septal defect (AVSD) in Down syndrome are lacking to support molecular studies on Down syndrome heart critical region. Therefore, we studied the development of complete AVSD in human embryos and fetuses with trisomy 21 using 3-dimensional graphic

  5. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

    Science.gov (United States)

    Demirdas, S; Dulfer, E; Robert, L; Kempers, M; van Beek, D; Micha, D; van Engelen, B G; Hamel, B; Schalkwijk, J; Loeys, B; Maugeri, A; Voermans, N C

    2017-03-01

    The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Included were 17 patients of 11 families with autosomal recessive inheritance and childhood onset. All patients had hyperextensible skin without atrophic scarring. Hypermobility of the joints was observed in 16 of 17 patients. Deformities of the hands and feet were observed frequently. TNX serum level was tested and absent in 11 patients (seven families). Genetic testing was performed in all families; 12 different mutations were detected, most of which are suspected to lead to non-sense mRNA mediated decay. In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

    Directory of Open Access Journals (Sweden)

    Tom Stiff

    Full Text Available Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS, a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. Mutations in ATR, which also functions during replication, can cause Seckel syndrome, a clinically related disorder. These findings suggest that impaired DNA replication could underlie the developmental defects characteristic of these disorders. Here, we show that although origin licensing capacity is impaired in all patient cells with mutations in origin licensing component proteins, this does not correlate with the rate of progression through S phase. Thus, the replicative capacity in MGS patient cells does not correlate with clinical manifestation. However, ORC1-deficient cells from MGS patients and siRNA-mediated depletion of origin licensing proteins also have impaired centrosome and centriole copy number. As a novel and unexpected finding, we show that they also display a striking defect in the rate of formation of primary cilia. We demonstrate that this impacts sonic hedgehog signalling in ORC1-deficient primary fibroblasts. Additionally, reduced growth factor-dependent signaling via primary cilia affects the kinetics of cell cycle progression following cell cycle exit and re-entry, highlighting an unexpected mechanism whereby origin licensing components can influence cell cycle progression. Finally, using a cell-based model, we show that defects in cilia function impair chondroinduction. Our findings raise the possibility that a reduced efficiency in forming cilia could contribute to the clinical features of MGS, particularly the bone development abnormalities, and could provide a new dimension for considering developmental impacts of licensing deficiency.

  7. Do dopaminergic gene polymorphisms affect mesolimbic reward activation of music listening response? Therapeutic impact on Reward Deficiency Syndrome (RDS).

    Science.gov (United States)

    Blum, Kenneth; Chen, Thomas J H; Chen, Amanda L H; Madigan, Margaret; Downs, B William; Waite, Roger L; Braverman, Eric R; Kerner, Mallory; Bowirrat, Abdalla; Giordano, John; Henshaw, Harry; Gold, Mark S

    2010-03-01

    affected by an individual's D2 density in the VTA mediated interaction of the NAc. It is therefore hypothesized that carriers of DRD2 A1 allele may respond significantly differently to carriers of the DRD2 A2 genotype. In this regard, carriers of the D2 A1 allele have a blunted response to glucose and monetary rewards. In contrast powerful D2 agonists like bromocryptine show a heightened activation of the reward circuitry only in DRD2 A1 allele carriers. If music causes a powerful activation in spite of the DRD2 A1 allele due to a strong DA neuronal release which subsequently impinges on existing D2 receptors, then it is reasonable to assume that music is a strong indirect D2 agonist (by virtue of DA neuronal release in the NAc) and may have important therapeutic applicability in Reward Deficiency Syndrome (RDS) related behaviors including Substance Use Disorder (SUD). Ross et al. [18] found that music therapy appears to be a novel motivational tool in a severely impaired inpatient sample of patients with co-occurring mental illness and addiction. Copyright (c) 2009 Elsevier Ltd. All rights reserved.

  8. Depressive syndromes among female caregivers of schizophrenic patients in prof. dr. m. ildrem mental hospital medan

    Science.gov (United States)

    Handi, A.; Husada, M. S.; Gultom, D. P.

    2018-03-01

    Caring for schizophrenic patients can lead to emotional distress. It remains unclear about the level of depressive syndromes among female caregivers of schizophrenic patients. To determine the level of depression among female caregivers of schizophrenic patients. This is a descriptive study with a cross-sectional approach to describe the level of depression of female caregivers in Prof. dr. M. Ildrem Mental Hospital Medan, using HADS instruments. Most age group of caregivers is from age 51-60 years that is 48.15%, caregiver’s work status mostly not works (62.96%), marital status of caregiver mostly is married (59.26%), kinship with most patients are a biological mother (57.41%). Most patient age group is from age below 30 years (50%), work status of most patients is not working (81.48%), marital status of most caregiver is married (83.33%). Mostly of the depressive syndrome is mild depression (42.59%). Mostly of the depressive syndrome is from mild depression.

  9. ATRX ADD Domain Links an Atypical Histone Methylation Recognition Mechanism to Human Mental-Retardation Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    S Iwase; B Xiang; S Ghosh; T Ren; P Lewis; J Cochrane; C Allis; D Picketts; D Patel; et al.

    2011-12-31

    ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

  10. ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Iwase, Shigeki; Xiang, Bin; Ghosh, Sharmistha; Ren, Ting; Lewis, Peter W.; Cochrane, Jesse C.; Allis, C. David; Picketts, David J.; Patel, Dinshaw J.; Li, Haitao; Shi, Yang (Harvard-Med); (Ottawa Hosp.); (MSKCC); (Rockefeller); (CH-Boston); (Tsinghua); (Mass. Gen. Hosp.)

    2011-07-19

    ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

  11. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

    Directory of Open Access Journals (Sweden)

    Steven M Offer

    Full Text Available BACKGROUND: Despite considerable effort, the genetic factors responsible for >90% of the antibody deficiency syndromes IgAD and CVID remain elusive. To produce a functionally diverse antibody repertoire B lymphocytes undergo class switch recombination. This process is initiated by AID-catalyzed deamination of cytidine to uridine in switch region DNA. Subsequently, these residues are recognized by the uracil excision enzyme UNG2 or the mismatch repair proteins MutSalpha (MSH2/MSH6 and MutLalpha (PMS2/MLH1. Further processing by ubiquitous DNA repair factors is thought to introduce DNA breaks, ultimately leading to class switch recombination and expression of a different antibody isotype. METHODOLOGY/PRINCIPAL FINDINGS: Defects in AID and UNG2 have been shown to result in the primary immunodeficiency hyper-IgM syndrome, leading us to hypothesize that additional, potentially more subtle, DNA repair gene variations may underlie the clinically related antibody deficiencies syndromes IgAD and CVID. In a survey of twenty-seven candidate DNA metabolism genes, markers in MSH2, RAD50, and RAD52 were associated with IgAD/CVID, prompting further investigation into these pathways. Resequencing identified four rare, non-synonymous alleles associated with IgAD/CVID, two in MLH1, one in RAD50, and one in NBS1. One IgAD patient carried heterozygous non-synonymous mutations in MLH1, MSH2, and NBS1. Functional studies revealed that one of the identified mutations, a premature RAD50 stop codon (Q372X, confers increased sensitivity to ionizing radiation. CONCLUSIONS: Our results are consistent with a class switch recombination model in which AID-catalyzed uridines are processed by multiple DNA repair pathways. Genetic defects in these DNA repair pathways may contribute to IgAD and CVID.

  12. Clinical Endocannabinoid Deficiency Reconsidered: Current Research Supports the Theory in Migraine, Fibromyalgia, Irritable Bowel, and Other Treatment-Resistant Syndromes.

    Science.gov (United States)

    Russo, Ethan B

    2016-01-01

    Medicine continues to struggle in its approaches to numerous common subjective pain syndromes that lack objective signs and remain treatment resistant. Foremost among these are migraine, fibromyalgia, and irritable bowel syndrome, disorders that may overlap in their affected populations and whose sufferers have all endured the stigma of a psychosomatic label, as well as the failure of endless pharmacotherapeutic interventions with substandard benefit. The commonality in symptomatology in these conditions displaying hyperalgesia and central sensitization with possible common underlying pathophysiology suggests that a clinical endocannabinoid deficiency might characterize their origin. Its base hypothesis is that all humans have an underlying endocannabinoid tone that is a reflection of levels of the endocannabinoids, anandamide (arachidonylethanolamide), and 2-arachidonoylglycerol, their production, metabolism, and the relative abundance and state of cannabinoid receptors. Its theory is that in certain conditions, whether congenital or acquired, endocannabinoid tone becomes deficient and productive of pathophysiological syndromes. When first proposed in 2001 and subsequently, this theory was based on genetic overlap and comorbidity, patterns of symptomatology that could be mediated by the endocannabinoid system (ECS), and the fact that exogenous cannabinoid treatment frequently provided symptomatic benefit. However, objective proof and formal clinical trial data were lacking. Currently, however, statistically significant differences in cerebrospinal fluid anandamide levels have been documented in migraineurs, and advanced imaging studies have demonstrated ECS hypofunction in post-traumatic stress disorder. Additional studies have provided a firmer foundation for the theory, while clinical data have also produced evidence for decreased pain, improved sleep, and other benefits to cannabinoid treatment and adjunctive lifestyle approaches affecting the ECS.

  13. Zinc Deficiency‐Like Syndrome in Fleckvieh Calves: Clinical and Pathological Findings and Differentiation from Bovine Hereditary Zinc Deficiency

    Science.gov (United States)

    Jung, S.; Majzoub‐Altweck, M.; Trefz, F.M.; Seifert, C.; Knubben‐Schweizer, G.; Fries, R.; Hermanns, W.; Gollnick, N.S.

    2018-01-01

    Background Zinc deficiency‐like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. Objectives To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype. Animals Nine hospitalized calves with crusting dermatitis and confirmed mutation in PLD4 and medical records from 25 calves with crusting dermatitis or suspected zinc deficiency. Methods Prospective and retrospective case series. Results The 9 calves (age: 5–53 weeks) displayed a moderate to severe crusting dermatitis mainly on the head, ventrum, and joints. Respiratory and digestive tract inflammations were frequently observed. Zinc supplementation did not lead to remission of clinical signs in 4 calves. Laboratory variables revealed slight anemia in 8 calves, hypoalbuminemia in 6 calves, but reduced serum zinc concentrations in only 3 calves. Mucosal erosions/ulcerations were present in 7 calves and thymus atrophy or reduced thymic weights in 8 calves. Histologically, skin lesions were indistinguishable from BHZD. Retrospective analysis of medical records revealed the presence of this phenotype since 1988 and pedigree analysis revealed a common ancestor of several affected calves. Conclusions and Clinical Importance ZDL syndrome should be suspected in Fleckvieh calves with crusting dermatitis together with diarrhea or respiratory tract inflammations without response to oral zinc supplementation. Definite diagnosis requires molecular genetic confirmation of the PLD4 mutation. PMID:29424482

  14. Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

    Science.gov (United States)

    Jaillet, Jessica; Robert-Gnansia, Elisabeth; Till, Marianne; Vinciguerra, Christine; Edery, Patrick

    2005-03-01

    Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia, sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. Warfarin- or phenytoin-induced vitamin K deficiency during early pregnancy is a well-established etiology for this syndrome, which occurs nevertheless sporadically in most cases. We describe here the first case, to our knowledge, of Binder syndrome in a child whose mother presented with biliary lithiasis in early pregnancy. The mother proved to have a decrease in clotting factors II, VII, and X, and in prothrombin time, at 11 weeks of gestation, which was highly suggestive of vitamin K deficiency. The biliary lithiasis-induced vitamin K deficiency in early pregnancy is likely to have resulted in Binder syndrome. This observation should prompt physicians to carefully check for vitamin K deficiency in pregnant women presenting with biliary lithiasis, in order to prevent Binder syndrome in the fetus by providing intravenous vitamin K supplementation as soon as possible. Finally, reassuring genetic counseling regarding the genetic risk for future pregnancies is to be provided to the parents. Copyright 2005 Wiley-Liss, Inc.

  15. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

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    Gloria Colarusso

    2010-06-01

    Full Text Available We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  16. Functional T lymphocyte immune deficiency in a population of homosexual men who do not exhibit symptoms of acquired immune deficiency syndrome.

    Science.gov (United States)

    Shearer, G M; Payne, S M; Joseph, L J; Biddison, W E

    1984-08-01

    To determine whether healthy homosexual men are immunologically impaired, peripheral blood leukocytes (PBL) from 20 male homosexuals were compared prospectively with PBL from 14 age-matched male heterosexual donors with respect to: (a) the capacity of their PBL to generate functional T cell immune responses in vitro; and (b) the content of total T cells and T cell subsets in their peripheral blood. The homosexual donors studied indicated moderate sexual life styles in that all but one of the donors had less than five current sexual partners. The percentages of OKT3+, OKT4+, and OKT8+ T cells were similar to those of heterosexual controls. T cell function was assessed by measuring cytotoxic T cell responses to influenza virus and to allogeneic cells. Approximately one-third of the homosexual donors consistently exhibited weak cytotoxic T lymphocyte (CTL) responses to influenza virus, whereas all of the heterosexual donors generated strong CTL responses to influenza. There was no correlation between the strength of CTL responsiveness to influenza virus and the strength of CTL responses to allogeneic cells. These results suggest that the influenza-specific CTL response may be a sensitive indicator of immunologic defects in asymptomatic homosexuals. If acquired immune deficiency syndrome results from an infectious agent, it remains to be seen if such immunosuppression predisposes to the infection, or if it reflects early consequences of infection.

  17. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

    Science.gov (United States)

    van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

    2016-11-01

    Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are applied to overcome problematic PMS2 mutation analysis due to the presence of pseudogenes and frequent gene conversion events. Here, we determined PMS2 mutation detection yield and mutation spectrum in a nationwide cohort of 396 probands. Furthermore, we studied concordance between tumor IHC/MSI (immunohistochemistry/microsatellite instability) profile and mutation carrier state. Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients. In vitro mismatch repair assays suggested pathogenicity for three missense variants. Ninety-one PMS2 mutation carriers (70%) showed isolated loss of PMS2 in their tumors, for 31 (24%) no or inconclusive IHC was available, and eight carriers (6%) showed discordant IHC (presence of PMS2 or loss of both MLH1 and PMS2). Ten cases with isolated PMS2 loss (10%; 10/97) harbored MLH1 mutations. We confirmed that recently improved mutation analysis provides a high yield of PMS2 mutations in patients with isolated loss of PMS2 expression. Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers. © 2016 WILEY PERIODICALS, INC.

  18. Mental health status of people isolated due to Middle East Respiratory Syndrome

    Directory of Open Access Journals (Sweden)

    Hyunsuk Jeong

    2016-11-01

    Full Text Available OBJECTIVES Isolation due to the management of infectious diseases is thought to affect mental health, but the effects are still unknown. We examined the prevalence of anxiety symptoms and anger in persons isolated during the Middle East Respiratory Syndrome (MERS epidemic both at isolation period and at four to six months after release from isolation. We also determined risk factors associated with these symptoms at four to six months. METHODS Of 14,992 individuals isolated for 2-week due to having contact with MERS patients in 2015, when MERS was introduced to Korea, 1,692 individuals were included in this study. Anxiety symptoms were evaluated with the Generalized Anxiety Disorder 7-item scale and anger was assessed with the State-Trait Anger Expression Inventory at four to six months after release from isolation for MERS. RESULTS Of 1,692 who came in contact with MERS patients, 1,656 were not diagnosed with MERS. Among 1,656, anxiety symptoms showed 7.6% (95% confidence interval [CI], 6.3 to 8.9% and feelings of anger were present in 16.6% (95% CI, 14.8 to 18.4% during the isolation period. At four to six months after release from isolation, anxiety symptoms were observed in 3.0% (95%CI, 2.2 to 3.9%. Feelings of anger were present in 6.4% (95% CI, 5.2 to 7.6%. Risk factors for experiencing anxiety symptoms and anger at four to six months after release included symptoms related to MERS during isolation, inadequate supplies (food, clothes, accommodation, social networking activities (email, text, Internet, history of psychiatric illnesses, and financial loss. CONCLUSIONS Mental health problems at four to six month after release from isolation might be prevented by providing mental health support to individuals with vulnerable mental health, and providing accurate information as well as appropriate supplies, including food, clothes, and accommodation.

  19. The level of the autoantibodies to antigenes of the thyroid gland at metabolic syndrome with deficiency of estrogens and the hypothyroidism

    Directory of Open Access Journals (Sweden)

    V. V. Kozak

    2012-08-01

    Full Text Available It has been shown that the concentration of autoantibodies to thyroperoxidase was significantly increased in rats with estrogen-deficiency. The combination of hypoestrogenia and metabolic syndrome with hypothyroidism intensified destructive processes in the thyroid gland. 17β-estradiol had the protective effect to the damaged thyroid gland in ovarioectomized animals with metabolic syndrome and hypothyroidism that was confirmed by significant reduction of concentration of autoantibodies to thyroperoxidase.

  20. Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

    Science.gov (United States)

    2017-10-17

    GLUT1DS1; Epilepsy; Glut1 Deficiency Syndrome 1, Autosomal Recessive; Glucose Metabolism Disorders; Glucose Transport Defect; Glucose Transporter Type 1 Deficiency Syndrome; Glucose Transporter Protein Type 1 Deficiency Syndrome

  1. Frequency of irritable bowel syndrome, entrance examination-related stress, mental health, and quality of life in high school students.

    Science.gov (United States)

    Park, Hyojung; Lim, Sunyoung

    2011-01-01

    The purpose of this study was to examine entrance examination-related stress, mental health, and the quality of life of high school students with and without irritable bowel syndrome. We administered a descriptive survey by collecting data from 1,877 students from eight schools in Gyeonggi province, Korea. This study employed the Rome III criteria for the assessment of irritable bowel syndrome, an entrance examination stress scale for measuring entrance examination-related stress, the revised Symptom Checklist-90-Revised for measuring mental health, and the World Health Organization Quality of Life Scale Abbreviated Version for measuring the quality of life. The frequency of irritable bowel syndrome in students was 19.0%. A majority had a mixed constipation and diarrhea subtype of irritable bowel syndrome. Compared with the high school students without irritable bowel syndrome, those with irritable bowel syndrome reported a significantly higher score on the entrance examination stress scale, Symptom Checklist-90-Revised, and World Health Organization Quality of Life Scale Abbreviated Version. Results suggest support for creating a high school education program that provides knowledge and information about irritable bowel syndrome to students. Furthermore, it is important to explore suitable therapeutic approaches and nursing interventions for this population.

  2. Compulsive-Like Behavior in Individuals with Down Syndrome: Its Relation to Mental Age Level, Adaptive and Maladaptive Behavior.

    Science.gov (United States)

    Evans, David W.; Gray, F. Lee

    2000-01-01

    Examined the nature of repetitive, ritualistic, and compulsive-like behaviors in typically developing and children and individuals with Down Syndrome (DS), matched on mental age (MA). Found that that both groups showed similar MA-related changes in compulsive-like behaviors. Younger children showed more compulsive-like behaviors than older.…

  3. ATP8B1 deficiency; Pathophysiology and treatment of a cholestatic syndrome with extrahepatic symptoms

    NARCIS (Netherlands)

    Stapelbroek, J.M.

    2009-01-01

    ATP8B1 deficiency is a severe and clinically highly variable hereditary disorder that is primarily characterized by intrahepatic cholestasis. It generally presents as a permanent disorder, progressive familial intrahepatic cholestasis type 1 (PFIC1), or with intermittent cholestasis (benign

  4. Paralysis Episodes in Carbonic Anhydrase II Deficiency.

    Science.gov (United States)

    Al-Ibrahim, Alia; Al-Harbi, Mosa; Al-Musallam, Sulaiman

    2003-01-01

    Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression, and dental mal-occlusion. A hyper-chloremic metabolic acidosis, sometimes with hypokalemia, occurs due to renal tubular acidosis that may be proximal, distal, or more commonly, the combined type. Such patients may present with global hypotonia, muscle weakness or paralysis. We report a case of CA II deficiency with recurrent attacks of acute paralysis which was misdiagnosed initially as Guillian-Barre syndrome.

  5. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

    NARCIS (Netherlands)

    Klepper, J.; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S.; Leferink, M.; Hertzberg, C.; Nake, A.; Voit, T.; Willemsen, M.A.A.P.

    2005-01-01

    BACKGROUND: GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder. A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism.

  6. Anaplastic lymphoma kinase negative anaplastic large cell lymphoma of hard palate as first clinical manifestation of acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Anjali Narwal

    2016-01-01

    Full Text Available Anaplastic large cell lymphoma (ALCL is an uncommon disease, accounting for <5% of all cases of non-Hodgkin's lymphoma. We report a case of 48-year-old male who presented a clinically benign swelling in the right anterior palatal region since last 2 months. Radiographic evaluation showed no bone loss in palatal area. Histological and radiological examination was in favor of a peripheral reactive lesion like pyogenic granuloma or a benign salivary gland tumor. Immunohistochemistry confirmed the diagnosis of anaplastic lymphoma kinase-negative (ALK(− ALCL. Further laboratory tests ELISA for human immunodeficiency virus (HIV and CD4 cell count was done which showed positivity for HIV. To the best of our knowledge, it is the first case of ALK(− ALCL in the hard palate presenting as the first clinical manifestation of acquired immune deficiency syndrome.

  7. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

    Science.gov (United States)

    Sharer, J Daniel; Bodamer, Olaf; Longo, Nicola; Tortorelli, Silvia; Wamelink, Mirjam M C; Young, Sarah

    2017-02-01

    Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities. Several laboratory methods are available for preliminary and confirmatory diagnosis of these conditions, including measurement of creatine and related metabolites in biofluids using liquid chromatography-tandem mass spectrometry or gas chromatography-mass spectrometry, enzyme activity assays in cultured cells, and DNA sequence analysis. These guidelines are intended to standardize these procedures to help optimize the diagnosis of creatine deficiency syndromes. While biochemical methods are emphasized, considerations for confirmatory molecular testing are also discussed

  8. Classifying Fibromyalgia Syndrome as a Mental Disorder?-An Ambulatory Assessment Study.

    Science.gov (United States)

    Klaus, Kristina; Fischer, Susanne; Doerr, Johanna M; Nater, Urs M; Mewes, Ricarda

    2017-04-01

    Fibromyalgia syndrome (FMS) is associated with psychological distress. The recent revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) raises the question of whether FMS is classifiable as "somatic symptom disorder" (SSD) and consequently as a mental disorder. To address this, the present ambulatory assessment study focuses on the everyday life occurrence of SSD symptoms in FMS and their predictive value concerning severity indicators of widespread pain. Ambulatory data were assessed six times daily on 14 consecutive days via iPod. Twenty-eight women suffering from FMS indicated symptoms associated with SSD (somatic illness beliefs, health anxiety, time/energy devoted to pain, or health concerns) and momentary pain levels. Questionnaires regarding potential covariates (such as somatization, depression, health status) were completed at two additional sessions in the research laboratory. On average, SSD symptoms occurred three to four times daily and were mild to moderate in severity. Furthermore, these symptoms were both concurrently and prospectively associated with momentary pain intensity and subjective impairment by pain. Twenty percent of the variance in pain intensity and 28 % of the variance in subjective impairment were explained by momentary variables (SSD symptoms and intake of pain medication). Eighty-two percent of persons with FMS fulfilled the psychological SSD criterion when considering everyday occurring symptoms with at least mild severity. FMS might be diagnosed as a mental disorder according to DSM-5 in many cases. SSD symptoms proved to have predictive value for FMS severity and may thus have clinical relevance for diagnostic, prognostic, and intervention purposes.

  9. Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America

    Directory of Open Access Journals (Sweden)

    Rodrigo Vásquez-De Kartzow

    Full Text Available CONTEXT: Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT: The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].

  10. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

    Science.gov (United States)

    Maletzki, Claudia; Huehns, Maja; Bauer, Ingrid; Ripperger, Tim; Mork, Maureen M; Vilar, Eduardo; Klöcking, Sabine; Zettl, Heike; Prall, Friedrich; Linnebacher, Michael

    2017-07-01

    Mismatch-repair deficient (MMR-D) malignancies include Lynch Syndrome (LS), which is secondary to germline mutations in one of the MMR genes, and the rare childhood-form of constitutional mismatch repair-deficiency (CMMR-D); caused by bi-allelic MMR gene mutations. A hallmark of LS-associated cancers is microsatellite instability (MSI), characterized by coding frameshift mutations (cFSM) in target genes. By contrast, tumors arising in CMMR-D patients are thought to display a somatic mutation pattern differing from LS. This study has the main goal to identify cFSM in MSI target genes relevant in CMMR-D and to compare the spectrum of common somatic mutations, including alterations in DNA polymerases POLE and D1 between LS and CMMR-D. CMMR-D-associated tumors harbored more somatic mutations compared to LS cases, especially in the TP53 gene and in POLE and POLD1, where novel mutations were additionally identified. Strikingly, MSI in classical mononucleotide markers BAT40 and CAT25 was frequent in CMMR-D cases. MSI-target gene analysis revealed mutations in CMMR-D-associated tumors, some of them known to be frequently hit in LS, such as RNaseT2, HT001, and TGFβR2. Our results imply a general role for these cFSM as potential new drivers of MMR-D tumorigenesis. © 2017 Wiley Periodicals, Inc.

  11. Aire-deficient mice provide a model of corneal and lacrimal gland neuropathy in Sjögren's syndrome.

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    Feeling Y Chen

    Full Text Available Sjögren's syndrome (SS is a chronic, autoimmune exocrinopathy that leads to severe dryness of the mouth and eyes. Exocrine function is highly regulated by neuronal mechanisms but little is known about the link between chronic inflammation, innervation and altered exocrine function in the diseased eyes and exocrine glands of SS patients. To gain a better understanding of neuronal regulation in the immunopathogenesis of autoimmune exocrinopathy, we profiled a mouse model of spontaneous, autoimmune exocrinopathy that possess key characteristics of peripheral neuropathy experienced by SS patients. Mice deficient in the autoimmune regulator (Aire gene developed spontaneous, CD4+ T cell-mediated exocrinopathy and aqueous-deficient dry eye that were associated with loss of nerves innervating the cornea and lacrimal gland. Changes in innervation and tear secretion were accompanied by increased proliferation of corneal epithelial basal cells, limbal expansion of KRT19-positive progenitor cells, increased vascularization of the peripheral cornea and reduced nerve function in the lacrimal gland. In addition, we found extensive loss of MIST1+ secretory acinar cells in the Aire -/- lacrimal gland suggesting that acinar cells are a primary target of the disease, Finally, topical application of ophthalmic steroid effectively restored corneal innervation in Aire -/- mice thereby functionally linking nerve loss with local inflammation in the aqueous-deficient dry eye. These data provide important insight regarding the relationship between chronic inflammation and neuropathic changes in autoimmune-mediated dry eye. Peripheral neuropathies characteristic of SS appear to be tightly linked with the underlying immunopathological mechanism and Aire -/- mice provide an excellent tool to explore the interplay between SS-associated immunopathology and peripheral neuropathy.

  12. Aire-deficient mice provide a model of corneal and lacrimal gland neuropathy in Sjögren's syndrome.

    Science.gov (United States)

    Chen, Feeling Y; Lee, Albert; Ge, Shaokui; Nathan, Sara; Knox, Sarah M; McNamara, Nancy A

    2017-01-01

    Sjögren's syndrome (SS) is a chronic, autoimmune exocrinopathy that leads to severe dryness of the mouth and eyes. Exocrine function is highly regulated by neuronal mechanisms but little is known about the link between chronic inflammation, innervation and altered exocrine function in the diseased eyes and exocrine glands of SS patients. To gain a better understanding of neuronal regulation in the immunopathogenesis of autoimmune exocrinopathy, we profiled a mouse model of spontaneous, autoimmune exocrinopathy that possess key characteristics of peripheral neuropathy experienced by SS patients. Mice deficient in the autoimmune regulator (Aire) gene developed spontaneous, CD4+ T cell-mediated exocrinopathy and aqueous-deficient dry eye that were associated with loss of nerves innervating the cornea and lacrimal gland. Changes in innervation and tear secretion were accompanied by increased proliferation of corneal epithelial basal cells, limbal expansion of KRT19-positive progenitor cells, increased vascularization of the peripheral cornea and reduced nerve function in the lacrimal gland. In addition, we found extensive loss of MIST1+ secretory acinar cells in the Aire -/- lacrimal gland suggesting that acinar cells are a primary target of the disease, Finally, topical application of ophthalmic steroid effectively restored corneal innervation in Aire -/- mice thereby functionally linking nerve loss with local inflammation in the aqueous-deficient dry eye. These data provide important insight regarding the relationship between chronic inflammation and neuropathic changes in autoimmune-mediated dry eye. Peripheral neuropathies characteristic of SS appear to be tightly linked with the underlying immunopathological mechanism and Aire -/- mice provide an excellent tool to explore the interplay between SS-associated immunopathology and peripheral neuropathy.

  13. Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America

    OpenAIRE

    Vásquez-De Kartzow, Rodrigo; Jesam, Cristian; Nehgme, Valentina; Várgas, Francisco; Sepúlveda, Carolina

    2012-01-01

    CONTEXT: Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT: The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is...

  14. Pseudotumor Cerebri Resulting in Empty Sella Syndrome and Multiple Pituitary Hormone Deficiencies

    Science.gov (United States)

    2017-09-16

    hour per respon•e. inciudmg the time for revlewin_g instructions. seart.hing ex.sting data sources, Qalhenng and maintain;ng the data needed, and...dl). On radiographic evaluation, his bone age was 14 years at a chronological age of 17 years and 4 months. The patienfs previous brain imaging...This patient had symptoms of pituitary deficiency for several years leading to bedridden status and significantly poor quality of life . This case

  15. DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch Syndrome

    OpenAIRE

    Poulogiannis , George; Frayling , Ian; Arends , Mark

    2009-01-01

    Abstract DNA mismatch repair (MMR) deficiency is one of the best understood forms of genetic instability in colorectal cancer (CRC), and is characterised by the loss of function of the MMR pathway. Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI). A high freq...

  16. Prediabetes is associated with an increased risk of testosterone deficiency, independent of obesity and metabolic syndrome.

    Science.gov (United States)

    Ho, Chen-Hsun; Yu, Hong-Jeng; Wang, Chih-Yuan; Jaw, Fu-Shan; Hsieh, Ju-Ton; Liao, Wan-Chung; Pu, Yeong-Shiau; Liu, Shih-Ping

    2013-01-01

    The association between type 2 diabetes and low testosterone has been well recognized. However, testosterone levels in men with prediabetes have been rarely reported. We aimed to investigate whether prediabetes was associated with an increased risk of testosterone deficiency. This study included 1,306 men whose sex hormones was measured during a medical examination. Serum total testosterone and sex hormone-binding globulin were measured; free and bioavailable testosterone concentrations were calculated by Vermeulen's formula. Prediabetes was defined by impaired fasting glucose (IFG), impaired postprandial glucose (IPG), or glycated hemoglobin (HbA1c) 5.7%-6.4%. Logistic regression was performed to obtain the odds ratios (OR) for subnormal total testosterone (testosterone (testosterone compared to normoglycemic individuals (age-adjusted OR=1.87; 95%CI=1.38-2.54). The risk remained significant in all multivariate analyses. After adjusting for MetS, the OR in prediabetic men equals that of diabetic patients (1.49 versus 1.50). IFG, IPG, and HbA1c 5.7%-6.4% were all associated with an increased risk of testosterone deficiency, with different levels of significance in multivariate analyses. However, neither prediabetes nor diabetes was associated with subnormal free testosterone in multivariate analyses. Prediabetes is associated with an increased risk of testosterone deficiency, independent of obesity and MetS. After adjusting for MetS, the risk equals that of diabetes. Our data suggest that testosterone should be measured routinely in men with prediabetes.

  17. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome

    NARCIS (Netherlands)

    Abou-Zahr, F; Bejjani, B; Kruyt, FAE; Kurg, R; Bacino, C; Shapira, SK; Youssoufian, H

    1999-01-01

    Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings

  18. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

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    Tomoo Ogi

    Full Text Available A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR gene was previously reported in two related families displaying Seckel Syndrome (SS. Here, we provide the first identification of a Seckel Syndrome patient with mutations in ATRIP, the gene encoding ATR-Interacting Protein (ATRIP, the partner protein of ATR required for ATR stability and recruitment to the site of DNA damage. The patient has compound heterozygous mutations in ATRIP resulting in reduced ATRIP and ATR expression. A nonsense mutational change in one ATRIP allele results in a C-terminal truncated protein, which impairs ATR-ATRIP interaction; the other allele is abnormally spliced. We additionally describe two further unrelated patients native to the UK with the same novel, heterozygous mutations in ATR, which cause dramatically reduced ATR expression. All patient-derived cells showed defective DNA damage responses that can be attributed to impaired ATR-ATRIP function. Seckel Syndrome is characterised by microcephaly and growth delay, features also displayed by several related disorders including Majewski (microcephalic osteodysplastic primordial dwarfism (MOPD type II and Meier-Gorlin Syndrome (MGS. The identification of an ATRIP-deficient patient provides a novel genetic defect for Seckel Syndrome. Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome. ATR-ATRIP patients are characterised by extremely severe microcephaly and growth delay, microtia (small ears, micrognathia (small and receding chin, and dental crowding. While aberrant bone development was mild in the original ATR-SS patient, some of the patients described here display skeletal abnormalities including, in one patient, small patellae, a feature characteristically observed in Meier-Gorlin Syndrome. Collectively, our analysis exposes an overlapping

  19. Pulmonary Thromboembolism in Klinefelter%u2019s Syndrome Patient with Deficient of Protein C

    Directory of Open Access Journals (Sweden)

    Mehmet Yigit

    2013-08-01

    Full Text Available Klinefelter syndrome (KS is a common genetic disorder caused by one or more supernumerary X chromosomes. KS poses an increased risk for venous thromboembolic events such as deep venous thrombosis and pulmonary embolism. Klinefelter syndrome is prone to hypercoagulability due to hormonal imbalance and one or more inherited thrombophilic factors. Therefore, patients with KS having a medical history of venous thromboembolism require chest computed tomographic (CT images and oral anticoagulation therapy for a period of at least six months. A 21 year old, male patient diagnosed with Klinefelter syndrome was presented to the emergency department of our hospital with primary complaints of left lower extremity pain lasting for 2 months. Deep venous thromboembosis (DVT was diagnosed via venous doppler ultrasound and pulmonary thromboembolism in his chest CT images. Following anticoagulation treatment, his symptoms recovered. An endocrinologic test should be ordered in patients having klinefelter syndrome with a medical or familial history of venous thromboembolism as well as additional assessment of innate or acquired thrombophilia should be made.

  20. The immune deficiency of chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Morsheimer, Megan; Brown Whitehorn, Terri F; Heimall, Jennifer; Sullivan, Kathleen E

    2017-09-01

    The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11.2 deletion was identified as the cause in the majority of patients with DiGeorge syndrome, the clinical features of 22q11.2 deletion syndrome became so expansive that the immunodeficiency became less prominent in our thinking about the syndrome. This review will focus on the immune system and the changes in our understanding over the past 50 years. Initially characterized as a pure defect in T cell development, we now appreciate that many of the clinical features related to the immunodeficiency are well downstream of the limitation imposed by a small thymus. Dysfunctional B cells presumed to be secondary to compromised T cell help, issues related to T cell exhaustion, and high rates of atopy and autoimmunity are aspects of management that require consideration for optimal clinical care and for designing a cogent monitoring approach. New data on atopy are presented to further demonstrate the association. © 2017 Wiley Periodicals, Inc.

  1. Improved survival of TNF-deficient mice during the zymosan-induced multiple organ dysfunction syndrome.

    NARCIS (Netherlands)

    Volman, T.J.H.; Hendriks, T.; Verhofstad, A.A.J.; Kullberg, B.J.; Goris, R.J.A.

    2002-01-01

    The purpose of the study was to investigate the course of the zymosan-induced multiple organ dysfunction syndrome (MODS) in the absence of tumor necrosis factor (TNF) in a murine model. Tumor Necrosis Factor-alpha-lymphotoxin-a knockout (TNF/LT-/-) mice (n = 36) and wild-type (TNF/LT+/+) mice (n =

  2. The effect of an aerobic training period on mental health and depression in Iranian women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Saremi A*

    2016-06-01

    Full Text Available Introduction: Polycystic Ovary Syndrome (PCOS is among the common endocrine women disorders that can create manifestations such as anxiety and depression. In this study, the effect of aerobic training on mental health and depression among Iranian women suffering from PCOS has been examined. Methods: This semi experimental study was carried out based on pre-test and post-test on experiment and control groups in Arak, Iran. Twenty-two women with polycystic ovary syndrome (aged 27.82 ±5.23 yr were selected and randomly divided to training (n=12 and control (n=10 groups. Aerobic training program was performed 25-40 min/d, 3d/wk, for 10 weeks. Mental health and depression were evaluated using a general health questionnaire-28 (GHQ-28 and a Beck depression inventory (BAI-II in the two groups before and after the study. Results: The 10 week aerobic training had a significant effect on mental health, subscales of physical symptoms, anxiety and depression (p0.05. Conclusion: The result of present study suggests that aerobic exercise can improve the mental disorders in women with polycystic ovary syndrome.

  3. Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin.

    Science.gov (United States)

    Kafkas, N V; Liakos, C I; Mouzarou, A G

    2015-06-01

    Aspirin is an important drug in acute coronary syndromes (ACS) and percutaneous coronary interventions (PCI). However, its use is contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency (risk for haemolytic anaemia). We report the management of 2 patients with class II G6PD deficiency and non-ST-segment elevation ACS (NSTE-ACS). The two patients were safely and efficiently treated with dual antiplatelet treatment (DAPT, aspirin plus ticagrelor) and PCI using new-generation drug-eluting stent (DES) despite G6PD deficiency. NSTE-ACS management with DAPT and DES is probably safe and effective in class II G6PD-deficient patients. © 2015 John Wiley & Sons Ltd.

  4. Deficiência mental e família: uma análise da produção científica

    Directory of Open Access Journals (Sweden)

    Maria Auxiliadora Dessen

    2000-12-01

    Full Text Available A produção científica na área de deficiência mental tem aumentado nos últimos anos, porém, ainda é escassa. Este estudo tem como objetivo analisar resumos de publicações científicas na área de deficiência mental e família, referentes ao período de 1985 a 1999, focalizando os temas investigados, o tamanho da amostra e as técnicas empregadas para a coleta de dados. Foi realizado um levantamento no Psychological Abstracts, nas bases de dados PsycLit e ProQuest e nos principais periódicos nacionais. Foram encontradas 304 publicações diretamente relacionadas ao assunto, sendo 38% artigos de pesquisa, 21% artigos teóricos/revisão de literatura, 20,4% livros/capítulos de livros, 10% teses/dissertações e 7,2% resenhas/comentários. Verificou-se que 44% dos artigos de pesquisa utilizaram apenas uma técnica para a coleta de dados, sendo a observação do comportamento a técnica mais empregada. Os resultados mostram que há necessidade de se estudar as famílias de crianças com deficiência mental, focalizando as interações e relações desenvolvidas entre os diferentes subsistemas familiares e, também, a importância de se adotar a teoria dos sistemas ecológicos de Bronfenbrenner para o desenvolvimento de projetos de pesquisa nesta área.

  5. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.

    Science.gov (United States)

    Ozen, Seza; Kuemmerle-Deschner, Jasmin B; Cimaz, Rolando; Livneh, Avi; Quartier, Pierre; Kone-Paut, Isabelle; Zeft, Andrew; Spalding, Steve; Gul, Ahmet; Hentgen, Veronique; Savic, Sinisa; Foeldvari, Ivan; Frenkel, Joost; Cantarini, Luca; Patel, Dony; Weiss, Jeffrey; Marinsek, Nina; Degun, Ravi; Lomax, Kathleen G; Lachmann, Helen J

    2017-04-01

    Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS). PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment. A total of 134 patients were analyzed: FMF (n = 49), TRAPS (n = 47), and MKD/HIDS (n = 38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMF patients and elevated acute-phase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8-year delay in FMF patients. An equal proportion of TRAPS patients first received anti-interleukin-1 (anti-IL-1) and anti-tumor necrosis factor (anti-TNF) biologic agents, whereas IL-1 blockade was the main choice for FMF patients resistant to colchicine and MKD/HIDS patients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (P = 0.03 and P patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This real-world treatment assessment supports the need for further refinement of treatment practices. © 2016, American College of Rheumatology.

  6. Sotos syndrome (cerebral gigantism): analysis of 8 cases

    OpenAIRE

    Melo, Débora Gusmão; Acosta, Angelina Xavier; Salles, Maria Aparecida de Almeida; Pina-Neto, João Monteiro de; Castro, José Daniel Vieira de; Santos, Antonio Carlos

    2002-01-01

    Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings. A síndrome de Sotos ou gigantismo cerebral é caracterizada por macrocefalia, hipercrescimento, dismorfias faciais típicas, deficiência mental e alterações do sistema nervoso central. Malfo...

  7. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.

    Science.gov (United States)

    Maalej, Marwa; Kammoun, Thouraya; Alila-Fersi, Olfa; Kharrat, Marwa; Ammar, Marwa; Felhi, Rahma; Mkaouar-Rebai, Emna; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza

    2018-03-18

    Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing followed by in silico analyses to predict the effects of sequence variation. The result of mutational analysis revealed the absence of mitochondrial mutations in MT-ATP6 gene and the presence of a known homozygous splice site mutation c.516-517delAG in sibling patients added to the presence of a novel double het mutations in LS patient (c.752-18 A > C/c. c.751 + 16G > A). In silico analyses of theses intronic variations showed that it could alters splicing processes as well as SURF1 protein translation. Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is MT-ATP6 and SURF1 genes screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions. After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing followed by in

  8. [Intervention effects of Zuoguiwan containing serum on osteoblast through ERK1/2 and Wnt/β-catenin signaling pathway in models with kidney-Yang-deficiency, kidney-Yin-deficiency osteoporosis syndromes].

    Science.gov (United States)

    Zhang, Jian-Hua; Xin, Jing; Fan, Lian-Xia; Yin, Hua

    2017-10-01

    To clarify the effects of Zuoguiwan containing serum on osteoblast proliferation and alkaline phosphatase(ALP) expression and its effects on the expression of β-catenin, ERK1, ERK2 mRNA and protein of osteoblast through ERK1/2, Wnt/β-catenin signaling pathway in models with osteoporosis(OP) kidney-Yang-deficiency, osteoporosis(OP) kidney-Yin-deficiency syndrome. Rat osteoporosis models were established by ovariectomy surgery, and 10 weeks after surgery, hydrocortisone was injected and thyroxine was administered by intragastric administration to establish OP kidney-Yang-deficiency rat model, and OP kidney-Yin-deficiency rat model. Osteoblasts were obtained from 24 h newborn rat skull and were identified by alkaline phosphatase and alizarin red staining. Zuoguiwan containing serum of OP, OP kidney-Yang-deficiency, and OP kidney-Yin-deficiency, as well as the blank serum were used to intervene the osteoblast, and the cells proliferation was detected by MTS. ELISA assay was used to detect ALP expression. RT-PCR assay was used to detect the mRNA expression of ERK1, ERK2, β-catenin and protein expression levels were detected by Western blot. The results showed that Zuoguiwan containing serum in OP kidney-Yin-deficiency model had stronger effect than OP kidney-Yang-deficiency in promoting osteoblast proliferation, ALP expression, osteoblast ERK1/2, Wnt/β-catenin signaling pathway related factors β-catenin, ERK1, ERK2 mRNA and protein expression levels. This was consistent with the TCM theory of "Zuoguiwan nourishes kidney Yin", providing a scientific basis for the clinical and dialectical treatment of osteoporosis. Zuoguiwan could regulate the proliferation and differentiation of bone cells by ERK1/2 and Wnt/β-catenin signaling pathway, which may be one of the mechanisms of Zuoguiwan for the prevention of osteoporosis. Copyright© by the Chinese Pharmaceutical Association.

  9. Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso

    OpenAIRE

    Fridman,Cintia; Kok,Fernando; Diament,Aron; Koiffmann,Célia P.

    1997-01-01

    Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.

  10. Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency

    DEFF Research Database (Denmark)

    Sieb, J P; Dörfler, P; Tzartos, S

    1998-01-01

    We studied two families with five affected members suffering from ptosis and slowly progressive limb-girdle muscle weakness. All patients had abnormal decremental response on low-frequency nerve stimulation, but there were no repetitive responses to single stimuli. The patients improved on anti...... known to be involved in orchestrating the end-plate structure showed deficiency of the AChR-associated protein utrophin. These patients appear to have a defect in the development or maintenance of the postsynaptic clefts; whether this defect results from or causes a reduced expression of utrophin or ACh...

  11. Vitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Bahareh Nikooyeh

    2014-09-01

    Conclusions: Our data showed that firstly higher vitamin D status is inversely associated with fasting glycemia, and secondly serum 25(OHD3 predicts MeS risk in the subjects with T2D. Demonstrating the association of hypovitaminosis D with disorders of glucose metabolism and higher risk for development of further complications, notably CVD, may lead to a new target for preventive efforts at the population level. Keywords: Vitamin D, Type 2 diabetes, Metabolic syndrome, Cardiovascular disease

  12. Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients.

    Science.gov (United States)

    Peres, Paulo; Carvalho, Antônio C; Perez, Ana Beatriz A; Medeiros, Wladimir M

    2016-10-01

    Marfan syndrome patients present important cardiac structural changes, ventricular dysfunction, and electrocardiographic changes. An abnormal heart rate response during or after exercise is an independent predictor of mortality and autonomic dysfunction. The aim of the present study was to compare heart rate recovery and chronotropic response obtained by cardiac reserve in patients with Marfan syndrome subjected to submaximal exercise. A total of 12 patients on β-blocker therapy and 13 off β-blocker therapy were compared with 12 healthy controls. They were subjected to submaximal exercise with lactate measurements. The heart rate recovery was obtained in the first minute of recovery and corrected for cardiac reserve and peak lactate concentration. Peak heart rate (141±16 versus 155±17 versus 174±8 bpm; p=0.001), heart rate reserve (58.7±9.4 versus 67.6±14.3 versus 82.6±4.8 bpm; p=0.001), heart rate recovery (22±6 versus 22±8 versus 34±9 bpm; p=0.001), and heart rate recovery/lactate (3±1 versus 3±1 versus 5±1 bpm/mmol/L; p=0.003) were different between Marfan groups and controls, respectively. All the patients with Marfan syndrome had heart rate recovery values below the mean observed in the control group. The absolute values of heart rate recovery were strongly correlated with the heart rate reserve (r=0.76; p=0.001). Marfan syndrome patients have reduced heart rate recovery and chronotropic deficit after submaximal exercise, and the chronotropic deficit is a strong determinant of heart rate recovery. These changes are suggestive of autonomic dysfunction.

  13. Pseudotumor Cerebri Resulting in Empty Sella Syndrome and Multiple Pituitary Hormone Deficiencies

    Science.gov (United States)

    2017-09-14

    of his nausea, a dramatic increase in energy level, and a much anticipated return to public high school from his home education program. Finally...non·specific neurologic symptoms or more rarely with pituitary dysfunction. This case highlights a patient with PTC and secondary empty sella syndrome...narcotic use. This resulted in withdrawal from school and bedridden status for four years. An abnormal genital exam with small phallic and testicular

  14. Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".

    Science.gov (United States)

    Tordjman, S; Cohen, D; Anderson, G M; Botbol, M; Canitano, R; Coulon, N; Roubertoux, P L

    2018-06-01

    Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2018. Published by Elsevier Ltd.

  15. Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity.

    Science.gov (United States)

    Tordjman, S; Cohen, D; Coulon, N; Anderson, G M; Botbol, M; Canitano, R; Roubertoux, P L

    2017-01-30

    Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2017. Published by Elsevier Ltd.

  16. Habilidades sociais e problemas de comportamento de alunos com deficiência mental, alto e baixo desempenho acadêmico Social skills and behavior problems in students with mental retardation, high and low academic performance

    Directory of Open Access Journals (Sweden)

    Andréa Regina Rosin-Pinola

    2007-08-01

    Full Text Available As habilidades sociais vêm sendo amplamente reconhecidas como importante componente do processo de escolarização especialmente dos alunos com deficiência mental. A revisão da literatura evidencia escassez de pesquisas que focalizam a inclusão desses alunos no sistema regular de ensino. Considerando tal situação, este estudo teve como objetivos: avaliar e comparar o desempenho social (habilidades sociais e problemas de comportamento e acadêmico de alunos, com deficiência mental, incluídos, em relação a seus colegas de alto e baixo rendimento acadêmico (AR e BR, respectivamente. Trinta professores avaliaram 120 alunos (40 com deficiência mental incluídos no ensino regular, 40 AR e 40 AR da pré-escola à oitava série por meio do Sistema de Avaliação de Habilidades Sociais, na sua versão adaptada para o Brasil (SSRS-BR por BANDEIRA et al. (s.d.. Os dados foram analisados estatisticamente e os resultados mostraram que: no desempenho acadêmico, os três grupos diferenciaram-se significativamente, com o AR mais positivamente avaliado, seguido pelo BR e depois pelo DM; nas habilidades sociais, AR apresentou escore acima da média normativa diferenciando de BR e DM, estes somente se diferenciaram nos fatores de Assertividade e Autodefesa; nos problemas de comportamento, AR apresentou escore abaixo da média normativa, diferenciando-se dos dois outros grupos; que não se diferenciaram. As evidências de dificuldades acadêmicas e interpessoais, tanto do grupo BR como DM, sugerem concomitância destas variáveis e aponta similaridades nas necessidades educativas desses dois grupos, o que reforça a importância das habilidades sociais para o sucesso e a inclusão escolar.Social skills have been widely recognized as important components of the schooling process, especially for students with mental deficiency. A review of the literature has shown scant research focusing on these students' inclusion in the regular school system

  17. Treatment with Growth Hormone for Adults with Growth Hormone Deficiency Syndrome: Benefits and Risks

    Science.gov (United States)

    Díez, Juan J.; Sangiao-Alvarellos, Susana; Cordido, Fernando

    2018-01-01

    Pharmacological treatment of growth hormone deficiency (GHD) in adults began in clinical practice more than 20 years ago. Since then, a great volume of experience has been accumulated on its effects on the symptoms and biochemical alterations that characterize this hormonal deficiency. The effects on body composition, muscle mass and strength, exercise capacity, glucose and lipid profile, bone metabolism, and quality of life have been fully demonstrated. The advance of knowledge has also taken place in the biological and molecular aspects of the action of this hormone in patients who have completed longitudinal growth. In recent years, several epidemiological studies have reported interesting information about the long-term effects of GH replacement therapy in regard to the possible induction of neoplasms and the potential development of diabetes. In addition, GH hormone receptor polymorphism could potentially influence GH therapy. Long-acting GH are under development to create a more convenient GH dosing profile, while retaining the excellent safety, efficacy, and tolerability of daily GH. In this article we compile the most recent data of GH replacement therapy in adults, as well as the molecular aspects that may condition a different sensitivity to this treatment. PMID:29562611

  18. Infant motor development in rural Vietnam and intrauterine exposures to anaemia, iron deficiency and common mental disorders: a prospective community-based study.

    Science.gov (United States)

    Tran, Thach D; Tran, Tuan; Simpson, Julie A; Tran, Ha T; Nguyen, Trang T; Hanieh, Sarah; Dwyer, Terence; Biggs, Beverley-Ann; Fisher, Jane

    2014-01-08

    Antenatal anaemia, iron deficiency and common mental disorders (CMD) are prevalent in low- and middle-income countries. The aim of this study was to examine the direct and indirect effects of antenatal exposures to these risks and infant motor development. A cohort of women who were pregnant with a single foetus and between 12 and 20 weeks pregnant in 50 randomly-selected rural communes in Ha Nam province was recruited. Participants provided data twice during pregnancy (early and late gestation) and twice after giving birth (8 weeks and 6 months postpartum). The Edinburgh Postnatal Depression Scale was used at all four data collection waves to detect CMD (score ≥ 4). Maternal anaemia (Hb deficiency (ferritin deficiency at early pregnancy and 48.2% at late pregnancy. Clinically significant symptoms of CMD were apparent among 40% women in early pregnancy and 28% in late pregnancy. There were direct adverse effects on infant BSID-M scores at 6 months of age due to antenatal anaemia in late pregnancy (an estimated mean reduction of 2.61 points, 95% Confidence Interval, CI, 0.57 to 4.65) and CMD in early pregnancy (7.13 points, 95% CI 3.13 to 11.13). Iron deficiency and anaemia in early pregnancy were indirectly related to the outcome via anaemia during late pregnancy. Antenatal anaemia, iron deficiency, and CMD have a negative impact on subsequent infant motor development. These findings highlight the need to improve the quality of antenatal care when developing interventions for pregnant women that aim to optimise early childhood development in low- and middle-income countries.

  19. An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of infliximab.

    Science.gov (United States)

    Firinu, D; Frau, A; Pisanu, M; Lorai, M M; Meleddu, R; Musu, F; Manconi, P E; Del Giacco, S R

    2012-01-01

    Autoimmune complications in the context of primary immunodeficiency diseases represent a well-known phenomenon, and this is widely recognized also for Selective Immunoglobulin A deficiency (IgAD), the most common primary antibody deficiency (PAD). Relapsing polychondritis (RP) is a rare immune-mediated, difficult to treat, disorder in which the cartilaginous tissues are the target for inflammation and damage. Ocular inflammatory manifestations in RP are frequent and often sight-threatening. Antiphospholipid syndrome (APS) is an acquired prothrombotic state related to circulating autoantibodies against phospholipids and/or their cofactors. Rare reports of APS associated to RP, PAD and APS or PAD and RP are available.

  20. Relationship between deficiency of vitamin D and exponents of metabolic syndrome.

    Science.gov (United States)

    Kramkowska, M; Grzelak, T; Walczak, M; Bogdanski, P; Pupek-Musialik, D; Czyzewska, K

    2015-06-01

    Widespread hypovitaminosis D and an increased incidence of metabolic syndrome (MetS) represent significant problems of contemporary medicine but link between them remain unresolved. We aimed to define relationship between vitamin D serum concentration and exponents of MetS. The studies were conducted on 70 individuals (51 with and 19 without MetS). Concentrations of 25(OH)D (25-hydroxyergocalciferol and 25-hydroxycholecalciferol), calcium, cholesterol, HDL, cholesterol LDL, triglycerides, fasting glucose, blood pressure and anthropometric parameters were measured. Median concentration of vitamin D in the research population amounted to 41.46 nmol/L. Concentration of 25(OH)D in MetS group was lower than in remainder participants (38.45 nmol/L vs. 58.50 nmol/L, p = 0.0104). An inverse correlation was demonstrated between 25(OH)D level on one hand and body weight, waist and hips circumference, adipose body weight, Body Mass Index, Waist to Height Ratio (WHtR), glycaemia and number of MetS components on the other in persons free of MetS. No such relationships could be documented in MetS group. In the entire population values of Waist to Hip Ratio (WHpR) and WHtR indices manifested correlation with hyperglycaemia, hypertriglyceridaemia, low HDL concentrations. In persons without MetS a relationship was detected between vitamin D concentration and exponents of metabolic syndrome, although further studies on this problem are required.

  1. Generational association studies of dopaminergic genes in reward deficiency syndrome (RDS) subjects: selecting appropriate phenotypes for reward dependence behaviors.

    Science.gov (United States)

    Blum, Kenneth; Chen, Amanda L C; Oscar-Berman, Marlene; Chen, Thomas J H; Lubar, Joel; White, Nancy; Lubar, Judith; Bowirrat, Abdalla; Braverman, Eric; Schoolfield, John; Waite, Roger L; Downs, Bernard W; Madigan, Margaret; Comings, David E; Davis, Caroline; Kerner, Mallory M; Knopf, Jennifer; Palomo, Tomas; Giordano, John J; Morse, Siobhan A; Fornari, Frank; Barh, Debmalya; Femino, John; Bailey, John A

    2011-12-01

    Abnormal behaviors involving dopaminergic gene polymorphisms often reflect an insufficiency of usual feelings of satisfaction, or Reward Deficiency Syndrome (RDS). RDS results from a dysfunction in the "brain reward cascade," a complex interaction among neurotransmitters (primarily dopaminergic and opioidergic). Individuals with a family history of alcoholism or other addictions may be born with a deficiency in the ability to produce or use these neurotransmitters. Exposure to prolonged periods of stress and alcohol or other substances also can lead to a corruption of the brain reward cascade function. We evaluated the potential association of four variants of dopaminergic candidate genes in RDS (dopamine D1 receptor gene [DRD1]; dopamine D2 receptor gene [DRD2]; dopamine transporter gene [DAT1]; dopamine beta-hydroxylase gene [DBH]). We genotyped an experimental group of 55 subjects derived from up to five generations of two independent multiple-affected families compared to rigorously screened control subjects (e.g., N = 30 super controls for DRD2 gene polymorphisms). Data related to RDS behaviors were collected on these subjects plus 13 deceased family members. Among the genotyped family members, the DRD2 Taq1 and the DAT1 10/10 alleles were significantly (at least p < 0.015) more often found in the RDS families vs. controls. The TaqA1 allele occurred in 100% of Family A individuals (N = 32) and 47.8% of Family B subjects (11 of 23). No significant differences were found between the experimental and control positive rates for the other variants. Although our sample size was limited, and linkage analysis is necessary, the results support the putative role of dopaminergic polymorphisms in RDS behaviors. This study shows the importance of a nonspecific RDS phenotype and informs an understanding of how evaluating single subset behaviors of RDS may lead to spurious results. Utilization of a nonspecific "reward" phenotype may be a paradigm shift in future association

  2. Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report.

    Science.gov (United States)

    Isse, Naohi; Miura, Yoh; Obata, Toshiyuki; Takahara, Noriko

    2013-12-30

    L-carnitine is an important metabolic mediator involved in fatty acid transport. It is obtained from the diet, particularly from animal products, such as red meat. Previous reports have revealed that long-term tube feeding with a commercial product containing no or low levels of carnitine can lead to an altered mental state caused by hyperammonemia. A 72-year-old Japanese man had a 12-year history of amyotrophic lateral sclerosis. He was bedridden and had required mechanical ventilation and enteral tube feeding for 10 years at home. His main enteral solution was a commercial product that contained low carnitine levels, and he sometimes received coffee and homemade products such as miso soup. Our patient's ability to communicate gradually deteriorated over a period of one year. His serum total carnitine level was abnormally low, at 26.7μmol/L (normal range, 45 to 91μmol/L), but his ammonium level was normal. His mental state improved dramatically after starting L-carnitine supplementation (600mg twice daily). This case highlights the importance of avoiding carnitine deficiency in patients with amyotrophic lateral sclerosis undergoing long-term tube feeding. These patients experience progressive muscle atrophy that might cause impaired carnitine storage and might manifest as communication difficulties. Carnitine deficiency can be misdiagnosed as a progression of systemic muscle atrophy. Clinicians should be aware of this disorder and should consider periodically measuring carnitine levels, regardless of the patient's serum ammonium levels.

  3. Physical activity and mental health in women with polycystic ovary syndrome.

    Science.gov (United States)

    Banting, Lauren K; Gibson-Helm, Melanie; Polman, Remco; Teede, Helena J; Stepto, Nigel K

    2014-03-27

    Physical activity is prescribed as a component of primary management for Polycystic Ovary Syndrome (PCOS). This study investigates the association between physical activity and mental health as well as the exercise barriers, motivators and support providers for younger women with and without PCOS to assist in physical activity uptake and prescription for these women. Women aged 18-50 years with (n = 153) and without PCOS (n = 64) completed a questionnaire at one time point. The questionnaire included the Hospital Anxiety and Depression Scale and a survey regarding levels of physical activity, physical activity barriers, motivators and supports. A MANCOVA assessed associations between physical activity, PCOS and mental health (specifically depression and anxiety). Descriptive and Chi square goodness of fit statistics assessed the differences in perceived barriers, motivators and support providers amongst women with and without PCOS. Women with PCOS displayed higher severity of depression (F(1,210) = 8.32, p = 0.004) and anxiety (F(1,210) = 17.37, p physically active women, depression was significantly less severe than in their inactive counterparts (F(2,210) = 13.62, p physical activity status and no interaction effects between PCOS and activity status for depression or anxiety. Women with PCOS were more likely to report a lack of confidence about maintaining physical activity (Χ2 = 3.65; p = 0.046), fear of injury (Χ2 = 4.08; p = 0.043) and physical limitations (Χ2 = 11.92; p = 0.001) as barriers to physical activity and were more likely to be motivated to be active to control a medical condition (Χ2 = 7.48; p = 0.006). Women with PCOS identified more sources of support compared to women without PCOS. Physical activity is associated with lower depression in women with PCOS and differences exist in the self-reported physical activity barriers, motivators and support providers, compared to controls

  4. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

    Directory of Open Access Journals (Sweden)

    Akihiko Muto

    2011-10-01

    Full Text Available Cornelia de Lange Syndrome (CdLS is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion. Most cases of CdLS are caused by haploinsufficiency for Nipped-B-like (Nipbl, a highly conserved protein that facilitates cohesin loading. Consistent with recent evidence implicating cohesin and Nipbl in transcriptional regulation, both CdLS cell lines and tissues of Nipbl-deficient mice show changes in the expression of hundreds of genes. Nearly all such changes are modest, however--usually less than 1.5-fold--raising the intriguing possibility that, in CdLS, severe developmental defects result from the collective action of many otherwise innocuous perturbations. As a step toward testing this hypothesis, we developed a model of nipbl-deficiency in zebrafish, an organism in which we can quantitatively investigate the combinatorial effects of gene expression changes. After characterizing the structure and embryonic expression of the two zebrafish nipbl genes, we showed that morpholino knockdown of these genes produces a spectrum of specific heart and gut/visceral organ defects with similarities to those in CdLS. Analysis of nipbl morphants further revealed that, as early as gastrulation, expression of genes involved in endodermal differentiation (sox32, sox17, foxa2, and gata5 and left-right patterning (spaw, lefty2, and dnah9 is altered. Experimental manipulation of the levels of several such genes--using RNA injection or morpholino knockdown--implicated both additive and synergistic interactions in causing observed developmental defects. These findings support the view that birth defects in CdLS arise from collective effects of quantitative changes in gene expression. Interestingly, both the phenotypes and gene expression changes in nipbl morphants differed from those in mutants or morphants for genes encoding

  5. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

    Science.gov (United States)

    Gitiaux, Cyril; Ceballos-Picot, Irène; Marie, Sandrine; Valayannopoulos, Vassili; Rio, Marlène; Verrieres, Séverine; Benoist, Jean François; Vincent, Marie Françoise; Desguerre, Isabelle; Bahi-Buisson, Nadia

    2009-01-01

    Adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the excretion of the succinylaminoimidazolecarboxamide riboside (SAICAr). Here, we report on two sisters aged 11 and 12 years presented with global developmental delay, motor apraxia, severe speech deficits, seizures and behavioural features, which combined excessive laughter, a very happy disposition, hyperactivity, a short attention span, the mouthing of objects, tantrums and stereotyped movements that gave a behavioural profile mimicking Angelman syndrome. Both patients had an increased succinyladenosine/SAICAr ratio of 1.6, and exhibited a novel homozygous missense mutation (c.674T>C; p.Met225Thr) in the exon 6 of the ADSL gene. We suggest that these clinical features might be a new presentation of adenylosuccinate lyase deficiency. On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome.

  6. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  7. Cognitive impairment in patients with Fibromyalgia syndrome as assessed by the Mini-Mental State Examination

    Directory of Open Access Journals (Sweden)

    Rejas Javier

    2009-12-01

    Full Text Available Abstract Background This study evaluated the frequency of cognitive impairment in patients with Fibromyalgia syndrome (FMS using the Mini Mental State Examination (MMSE. Methods We analyzed baseline data from all 46 patients with FMS and 92 age- and sex-matched controls per diagnosis of neuropathic (NeP or mixed pain (MP selected from a larger prospective study. Results FMS had a slight but statistically significant lower score in the adjusted MMSE score (26.9; 95% CI 26.7-27.1 than either NeP (27.3; 95% CI 27.2-27.4 or MP (27.3; 27.2-27.5. The percentage of patients with congnitive impairment (adjusted MMSE ≤ 26 was numerically higher in FMS (15%; 95% CI 6.3-29 compared with NeP (5%; 95% CI 1.8-12.2 or MP (5%; 95% CI 1.8-12.2 and higher than in the same age stratum of the general population (0.05%. Conclusions Compared with the population reference value, patients with FMS showed high frequency of cognitive impairment.

  8. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

    NARCIS (Netherlands)

    B.B.A. de Vries (Bert); B.A. Oostra (Ben); M.F. Niermeijer (Martinus); A. Tibben (Arend); A.M.W. van den Ouweland (Ans); S. Mohkamsing; H.J. Duivenvoorden (Hugo); E. Mol; K. Gelsema; M. van Rijn; D.J.J. Halley (Dicky); L.A. Sandkuijl (Lodewijk)

    1997-01-01

    textabstractThe fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for

  9. The eighth mystery of acquired immune deficiency syndrome and the "Trojan horse' mechanism.

    Science.gov (United States)

    Erlander, S R

    1996-07-01

    Human immunodeficiency virus protease inhibitors produce in acquired immune deficiency virus patients a decrease in both existing and new human immunodeficiency virus accompanied by an increase in CD4+ T cells. Yet these inhibitors are not capable of destroying existing human immunodeficiency virus. Thus human immunodeficiency virus cannot explain this 'eighth' mystery, nor can it explain the destruction of five times more CD4+ T cells than the plasma human immunodeficiency virus, either by apoptosis, by reduction in the half-life of human immunodeficiency virus, or by inducing killer cells. It is proposed that the human immunodeficiency virus protease inhibitors (and the reverse transcriptase non-nucleoside inhibitor Nevirapine) inhibit the sperm's proteases which then produces: (1) a reduction in existing human immunodeficiency virus by causing an increase in CD8+ T cells; (2) a reduction in new human immunodeficiency virus by inhibiting the activity of the 'Trojan horse' sperm, and (3) an increase in CD4+ T cells by a reduction in the ability of the sperm's proteases to cause apoptosis. The protection of the human immunodeficiency virus genetic material inside the "Trojan horse' sperm produces a steady-state, rapid turnover of human immunodeficiency virus. Thus the body's immune system, although capable of quickly destroying human immunodeficiency virus, can only dramatically destroy the offspring released into the plasma from sperm-infected T cells and is unable to destroy the source of human immunodeficiency virus, the "Trojan horse' sperm.

  10. DENTAL PATIENTS’ KNOWLEDGE AND AWARENESS ABOUT TRANSMISSION WAYS OF ACQuIRED IMMUNE DEFICIENCY SYNDROME (AIDS

    Directory of Open Access Journals (Sweden)

    Fatih Cabbar

    2016-01-01

    Full Text Available Purpose: The aim of this study was to evaluate the patients’ attitude, knowledge and awareness about HIV/AIDS. And secondary aim was to assess the need for further education about HIV/AIDS. Materials and Methods: A questionnaire of 39 items was used to evaluate the patients’ knowledge. 301 patients were included (mean age 37.12 ±7.85 years, 41.5% male, 58.5% female in the study. Results were calculated by Students t-test, Chi-square test, Fisher’s exact test. Results: Most of the patients had accurate knowledge about transmission ways, however transmission through breastfeeding (31.6%, public restrooms (44.9%, and insects and mosquitos bite (47.2% were less recognized. Saliva (32.2%, urine (36.9%, tears (58.5%, sweat (54.5%, breast milk (30.6%, feces (36.9% and cerebrospinal fluid (7.3% were less recognized body fluids. Generally university and postgraduate educated patients had more accurate knowledge than other groups. 63.1% of patients thought that they need further education about HIV/AI DS. Conclusion: The results of this study showed that the knowledge level about HIV/AIDS was almost agreeable. However, the patients had deficiencies with respect to their knowl-edge. Therefore the authors of this study believe that there must be education programs related to HIV/AIDS.

  11. Aerobic exercise modulation of mental stress-induced responses in cultured endothelial progenitor cells from healthy and metabolic syndrome subjects.

    Science.gov (United States)

    Rocha, Natalia G; Sales, Allan R K; Miranda, Renan L; Silva, Mayra S; Silva, Jemima F R; Silva, Bruno M; Santos, Aline A; Nóbrega, Antonio C L

    2015-02-15

    Numerous studies have demonstrated that exercise acutely prevents the reduction in flow-mediated dilation induced by mental stress in subjects with metabolic syndrome (MetS). However, it is unknown whether a similar effect occurs in endothelial progenitors cells (EPCs). This study investigated whether exercise protects from the deleterious effect of mental stress on cultured EPCs in healthy subjects and those with MetS. Ten healthy subjects (aged 31±2) and ten subjects with MetS (aged 36±2) were enrolled. Subjects underwent a mental stress test, followed immediately by either 40 min of leg cycling or rest across two randomized sessions: mental stress+non-exercise control (MS) and mental stress+exercise (MS+EXE). The Stroop Color-Word Test was used to elicit mental stress. Blood samples were drawn at baseline and following sessions to isolate mononuclear cells. These cells were cultured in fibronectin-coated plates for seven days, and EPCs were identified by immunofluorescence (acLDL(+)/ UEA-I Lectin(+)). All subjects presented similar increases in mean blood pressure and heart rate during the mental stress test (P0.05). The EPC response to MS and MS+EXE was increased in healthy subjects, whereas it was decreased in subjects with MetS (Phealthy subjects, the EPC response to MS+EXE was greater than the response to MS alone (P=0.03). An exercise session increased EPCs in healthy subjects but did not prevent the EPC reduction induced by mental stress among subjects with MetS. © 2015.

  12. Cerebro-costo-mandibular syndrome with consanguinity

    International Nuclear Information System (INIS)

    Clarke, E.A.; Nguyen, V.D.

    1985-01-01

    The cerebro-costo-mandibular syndrome is a rare disorder characterized by unique posterior rib defectes, micrognathia, and mental deficiency. The mode of transmission is undetermined. This report describes the first case with documented parental consanguinity as well as hitherto undescribed CT and skeletal findings. (orig.)

  13. Angelman syndrome in an inbred family

    NARCIS (Netherlands)

    Beuten, J.; Hennekam, R. C.; van Roy, B.; Mangelschots, K.; Sutcliffe, J. S.; Halley, D. J.; Hennekam, F. A.; Beaudet, A. L.; Willems, P. J.

    1996-01-01

    Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (approximately 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by

  14. Refractory and/or Relapsing Cryptococcosis Associated with Acquired Immune Deficiency Syndrome: Clinical Features, Genotype, and Virulence Factors of Cryptococcus spp. Isolates

    OpenAIRE

    Nascimento, Erika; Vitali, Lucia H.; Tonani, Ludmilla; Von Zeska Kress, Marcia R.; Takayanagui, Osvaldo M.; Martinez, Roberto

    2016-01-01

    Refractory and relapsing crytocococcosis in acquired immune deficiency syndrome (AIDS) patients have a poor prognosis. The risk factors for this complicated infection course were evaluated by comparing refractory and/or relapsing cryptococcosis in human immunodeficiency virus–coinfected patients (cohort 1) with another group of AIDS patients who adequately responded to antifungals (cohort 2). Except for one isolate of Cryptococcus gattii from a cohort 2 case, all other isolates were identifie...

  15. Effects of Qiangji Jianli Yin on the hypothalamus CRH contents and plasma ACTH, cortisol levels in rat models of kidney-yang deficiency syndrome

    International Nuclear Information System (INIS)

    Zhao Hui; Chen Zhixi; Chen Jinyan; Li Zhiqiang; He Zanhou

    2007-01-01

    Objective: To investigate the effects of qiangji jianli yin on hypothalamus CRH contents and plasma ACTH, Cortisol levels in rat models with kidney-yang deficiency syndrome. Methods: Rat models of kidney-yang deficiency syndrome were prepared with intramuscular injuection of hydroeortisone and divided into 5 groups: (1) no further treatment, n=13 (2) treated with high dosage d qiangji jiandi yin, n=12 (3) treated with medium dosage of qiangji jianli yin, n=12 (4) treated with low dosage of qiangji jianli yin n=12, (5) treated with yougui wan, n=12. Ten rats injuected with intramuscular distilled water only served as controls. The animals were sacrificied 14 days later and the hypothalamus CRH contents as well as plasma AOM and cortisol levels were measured with RIA. The thymus gland weight index and the adrenal gland index were calculated. Results: (1) The hypothalamus CRH contents and plasma ACTH, cortisol levels were significantly lower (P<0.01) in the rat models of kidney-yang deficiency syndrome without any treatment thas those in controls rats; the thymus and adrenal gland weight index were significantly decreased too (P <0.01). The CRH conteats and ACTH, cortisol levels in all the three group of rat model treated with different dosage of qiangji jianli yin were significantly higher than those in the models without any treatment (P<0.05-0.01). Conclusion: In rat models of kidney-yang deficiency syndrome, dysfunction of the hypothalamus-pituitary-adrenal axis (HPAA) led to decreased secretion of related hormones. The HPAA function might be partially restored with administation of qiangji jianli yin. (authors)

  16. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

    Czech Academy of Sciences Publication Activity Database

    Hartmannová, H.; Piherová, L.; Tauchmannová, Kateřina; Kidd, K.; Acott, P. D.; Crocker, J. F. S.; Oussedik, Y.; Mallet, M.; Hodaňová, K.; Stránecký, V.; Přistoupilová, A.; Barešová, V.; Jedličková, I.; Živná, M.; Sovová, J.; Hůlková, H.; Robins, V.; Vrbacký, Marek; Pecina, Petr; Kaplanová, Vilma; Houštěk, Josef; Mráček, Tomáš; Thibeault, Y.; Bleyer, A. J.; Kmoch, S.

    2016-01-01

    Roč. 25, č. 18 (2016), s. 4062-4079 ISSN 0964-6906 R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.340, year: 2016

  17. A cross-sectional pilot study to determine the prevalence of testosterone deficiency syndrome in working population of Indian men

    Directory of Open Access Journals (Sweden)

    Apul Goel

    2009-01-01

    Full Text Available Aim: To determine the prevalence of testosterone deficiency syndrome (TDS in healthy Indian men employed in a hospital aged above 40 years. Materials and Methods: A general medical health check-up camp was organized for all male employees above 40 years age working in surgical departments. After clinical history and systemic inquiry, subjects were requested to fill the St. Louis University′s ADAM Questionnaire based on which the total and free-serum testosterone estimation was then done. Results: One hundred fifty seven healthy volunteers enrolled for the study (mean age 53.1 years; range 40-60. The androgen decline in the aging male (ADAM Questionnaire detected 106 men (67.5% to be symptomatic for TDS. Serum testosterone estimation in these subjects revealed 41/106 to have low free-serum testosterone levels and 32/106 to have low total-serum testosterone. In 11 and 6 cases, respectively, the serum free- and total-testosterone levels were found to be low although the subjects were asymptomatic for TDS. Conclusions: The prevalence of symptomatic biochemical hypogonadism was 26.1%. The higher prevalence of symptoms alone of TDS was unusual. It could be because of the nature of the questionnaire. Free-serum testosterone may be a better single test to diagnose symptomatic hypogonadism than total-serum testosterone.

  18. Kefir improves fatty liver syndrome by inhibiting the lipogenesis pathway in leptin-deficient ob/ob knockout mice.

    Science.gov (United States)

    Chen, H-L; Tung, Y-T; Tsai, C-L; Lai, C-W; Lai, Z-L; Tsai, H-C; Lin, Y-L; Wang, C-H; Chen, C-M

    2014-09-01

    Fatty liver disease is commonly associated with obesity, insulin resistance and diabetes. Severe fatty liver is sometimes accompanied by steatohepatitis and may lead to the development of hepatocellular carcinoma. At present, there is no effective treatment for non-alcoholic fatty liver disease (NAFLD); thus, recent investigations have focused on developing effective therapeutics to treat this condition. This study aimed to evaluate the effects of kefir on the hepatic lipid metabolism of ob/ob mice, which are commonly used to model fatty liver disease. In this study, we used leptin receptor-deficient ob/ob mice as an animal disease model of NAFLD. Six-week-old ob/ob mice were orally administered the dairy product kefir (140 mg kg(-1) of body weight (BW) per day) for 4 weeks. The data demonstrated that kefir improved fatty liver syndrome on BW, energy expenditure and basal metabolic rate by inhibiting serum glutamate oxaloacetate transaminase (GOT) and glutamate pyruvate transaminase (GPT) activities (Pkefir administration also significantly reduced the macrovesicular fat quantity in liver tissue. In addition, kefir markedly decreased the expression of the genes sterol regulatory element-binding protein 1 (SREBP1), fatty acid synthase (FAS) and acetyl-CoA carboxylase (ACC) (Pkefir improves NAFLD on BW, energy expenditure and basal metabolic rate by inhibiting the lipogenesis pathway and that kefir may have the potential for clinical application to the prevention or treatment of NAFLD.

  19. Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.

    Science.gov (United States)

    Philbrook, Christine; Fritz, Eberhard; Weiher, Hans

    2005-01-01

    Wolfram Syndrome is an autosomal recessive degenerative disorder of the neuroendocrine system. Diabetes mellitus is its lead symptom. Patients show mutations in the wolframin (WFS1) gene coding for a hydrophobic transmembrane protein of 890 amino acids. This protein was preliminarily localised in the endoplasmatic reticulum (ER) in cells of mice and rats. Mice lacking the WFS1 gene display degeneration of pancreatic beta-cells following induction of ER stress. We here used antibodies against substructures of the wolframin protein in order to analyse its expression and localisation. Expression was detected in both pancreatic beta-cells and the limbic system of mice. Using the rat insulinoma cell line RIN 5AH and fractionated mouse brain tissue, we confirmed wolframin localisation to the endoplasmic reticulum. Expression profiling on patient's primary fibroblasts revealed down-regulation of the diabetes associated plasma membrane glycoprotein (PC-1) gene, and up-regulation of fibulin-3, a gene connected to senescence. However, cell proliferation was indistinguishable from non-mutated cells. In contrast to data obtained on murine pancreatic islets, we found no increased apoptosis following induction of ER stress but rather by staurosporine treatment in the absence of WFS1 function. This indicates a new role of WFS1 deficiency in programmed cell death.

  20. Epstein-Barr virus myelitis and Castleman's disease in a patient with acquired immune deficiency syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Balderacchi Jasminka

    2011-05-01

    Full Text Available Abstract Introduction Few cases of Epstein-Barr virus myelitis have been described in the literature. Multi-centric Castleman's disease is a lymphoproliferative disorder that is well known for its associations with the human immunodeficiency virus, human herpes virus 8, and Kaposi's sarcoma. The concurrent presentation of these two diseases in a patient at the same time is extremely unusual. Case Presentation We describe the case of a 43-year-old Caucasian man with acquired immune deficiency syndrome who presented with fever, weight loss and diffuse lymphadenopathy, and was diagnosed with multi-centric Castleman's disease. He presented three weeks later with lower extremity weakness and urinary retention, at which time cerebrospinal fluid contained lymphocytic pleocytosis and elevated protein. Magnetic resonance imaging demonstrated abnormal spinal cord signal intensity over several cervical and thoracic segments, suggesting the diagnosis of myelitis. Our patient was ultimately diagnosed with Epstein-Barr virus myelitis, as Epstein-Barr virus DNA was detected by polymerase chain reaction in the cerebrospinal fluid. Conclusion To the best of our knowledge, this is the first case of multi-centric Castleman's disease followed by acute Epstein-Barr virus myelitis in a human immunodeficiency virus-infected patient. Clinicians caring for human immunodeficiency virus-infected patients should be vigilant about monitoring patients with increasing lymphadenopathy, prompting thorough diagnostic investigations when necessary.

  1. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

    Science.gov (United States)

    Ramm-Pettersen, Anette; Nakken, Karl O; Skogseid, Inger M; Randby, Hans; Skei, Erik B; Bindoff, Laurence A; Selmer, Kaja K

    2013-05-01

    The aim of this study was to characterize patients diagnosed with glucose transporter protein-1 deficiency syndrome (GLUT-1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet. We retrospectively studied medical records of 10 patients diagnosed with GLUT-1 DS. Four females and six males with a median age of 15 years were included. The study illustrates the genetic and clinical heterogeneity of GLUT-1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise-induced dyskinesia. A point prevalence of GLUT-1 DS in Norway was estimated as 2.6 per 1,000,000 inhabitants. Although the long-term prognosis in patients with GLUT-1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome. © The Authors. Developmental Medicine & Child Neurology © 2013 Mac Keith Press.

  2. [Effects and mechanism of Angelicae Sinensis Radix on Th1/Th2 and Th17/Treg in mice with asthma and Yin deficiency syndrome].

    Science.gov (United States)

    Ma, Ting-Ting; Feng, Xing-Zhong; Wang, Xue-Yan

    2017-02-01

    Angelicae Sinensis Radix, with nourishing Yin, promoting blood circulation, and moisturizing dryness functions, is commonly used in clinical medicine. In order to investigate the effects and mechanism of Angelica sinensis(AS) on Th1/Th2 and Th17/Treg in mice with asthma and Yin deficiency syndrome, asthmatic and Yin deficiency syndrome Balb/c mice models were established by injecting and inhaling ovalbumin(OVA) and thyroxin. The models were treated with dexamethasone(DXM), AS extract and AS extract+DXM, respectively. Pathological examination of lung tissues was conducted by HE staining, and ELISA was used to detect the levels of IL-4, IL-17, IFN-γ, TGF-β as well as retinoic acid receptor-related orphan receptor (RORγt). Results showed that AS could significantly improve the situation of inflammation infiltration, increase ratios of IFN-γ/IL-4 and TGF-β/IL-17, decrease the levels of RORγt in lung tissues. The AS+DXM group showed a best treatment effect. The results indicated that AS played a therapeutic role for asthma with Yin deficiency syndrome and improved airway inflammation by inhibiting the expression of RORγt in lung tissues and regulating the balance of Th1/Th2 and Th17/Treg. Copyright© by the Chinese Pharmaceutical Association.

  3. Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome.

    Science.gov (United States)

    Rahim, R S; Meedeniya, A C B; Crane, D I

    2014-08-22

    Zellweger syndrome (ZS) is a severe peroxisomal disorder caused by mutations in peroxisome biogenesis, or PEX, genes. A central hallmark of ZS is abnormal neuronal migration and neurodegeneration, which manifests as widespread neurological dysfunction. The molecular basis of ZS neuropathology is not well understood. Here we present findings using a mouse model of ZS neuropathology with conditional brain inactivation of the PEX13 gene. We demonstrate that PEX13 brain mutants display changes that reflect an abnormal serotonergic system - decreased levels of tryptophan hydroxylase-2, the rate-limiting enzyme of serotonin (5-hydroxytryptamine, 5-HT) synthesis, dysmorphic 5-HT-positive neurons, abnormal distribution of 5-HT neurons, and dystrophic serotonergic axons. The raphe nuclei region of PEX13 brain mutants also display increased levels of apoptotic cells and reactive, inflammatory gliosis. Given the role of the serotonergic system in brain development and motor control, dysfunction of this system would account in part for the observed neurological changes of PEX13 brain mutants. Copyright © 2014 IBRO. Published by Elsevier Ltd. All rights reserved.

  4. Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Bianca De Filippis

    2015-01-01

    Full Text Available Rett syndrome (RTT is a rare neurodevelopmental disorder, characterized by severe behavioural and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2 cause more than 95% of classic cases. Motor abnormalities represent a significant part of the spectrum of RTT symptoms. In the present study we investigated motor coordination and fine motor skill domains in MeCP2-308 female mice, a validated RTT model. This was complemented by the in vivo magnetic resonance spectroscopy (MRS analysis of metabolic profile in behaviourally relevant brain areas. MeCP2-308 heterozygous female mice (Het, 10-12 months of age were impaired in tasks validated for the assessment of purposeful and coordinated forepaw use (Morag test and Capellini handling task. A fine-grain analysis of spontaneous behaviour in the home-cage also revealed an abnormal handling pattern when interacting with the nesting material, reduced motivation to explore the environment, and increased time devoted to feeding in Het mice. The brain MRS evaluation highlighted decreased levels of bioenergetic metabolites in the striatal area in Het mice compared to controls. Present results confirm behavioural and brain alterations previously reported in MeCP2-308 males and identify novel endpoints on which the efficacy of innovative therapeutic strategies for RTT may be tested.

  5. Linear sebaceous nevus syndrome with hemimegalencephaly

    International Nuclear Information System (INIS)

    Bae, Kyeung Kug; Byun, Woo Mok; Cho, Jae Ho; Cho, Kil Ho

    1997-01-01

    Linear sebaceous nevus syndrome, which is the association of nevus sebaceous of Jadassohn in the midfacial area with seizure and mental deficiency, has been reported in at least 100 cases. Hemimegalencephaly is a rare malformation consisting of unilateral hypertrophy of the brain, an abnormal gyral pattern, thickened cortex, white matter abnormality, and lateral ventricular dilatation. The authors report a case of linear sebaceous nevus syndrome with hemimegalencephaly, diagnosed on the basis of clinical data and brain MRI

  6. Acquired immune deficiency syndrome: specific aspects of the disease in Haiti.

    Science.gov (United States)

    Guerin, J M; Malebranche, R; Elie, R; Laroche, A C; Pierre, G D; Arnoux, E; Spira, T J; Dupuy, J M; Seemayer, T A; Pean-Guichard, C

    1984-01-01

    This paper presents clinical data on 41 patients (29 male and 12 female) from Haiti who presented with acquired immunedeficiency syndrome (AIDS). Their mean age was 32 years (range 17-61 years). 4 of thes cases were homosexual or bisexual; none was an illicit drug user or a hemophiliac. In addition, 3 of the female patients had sexual contact with a male partner with AIDS. 4 patients had received blood transfusions before their illness. The most prominent clinical symptom in this series was chronic diarrhea of 2-33 months' duration, which occurrred in 39 patients (95%). Also reporte were marked weight loss (95%), fatigue (95%), prolonger fever (90%), and nodular or maculopapular skin lesions (54%). Opportunistic infections in this series included oroesophageal candidiasis (88%) and intestinal cryptosporidiosis (31%). Tuberculosis developed in 22% of patients. Immunologic evaluation revealed profoundly depressed T-helper cells and an inverted T-helper/T-suppressor cell ratio. Biologic markers included elevated alpha-1 thymosin and beta-2 microglobulin levels, elevated immune complexes, and the presence of acid-labile interferon. Of interest were differences in the clinical expression of AIDS between this series and cases in the US. The Haitian data suggest a higher incidencs of female cases,a predominance of gastrointestinal symptoms rather than respiratory symptoms and lymphadenopathy, a frequent association with tuberculosis, and a relatively low incidence of Kaposi's sarcoma or P. carinii pneumonia compared to the situation in the US. As in the US, where most AIDS cases are concentrated in New York and California, most AIDS cases in Haiti are found in residents of Port-au-Prince and Carrefour, which are centers for male and female prostitution.

  7. High risk of metabolic syndrome among black South African women with severe mental illness

    Directory of Open Access Journals (Sweden)

    Shamima Saloojee

    2017-04-01

    Full Text Available Background: There is an increased prevalence of metabolic syndrome (MetS in individuals with severe mental illness (SMI globally. The prevalence of MetS is higher in black women compared to black men from South Africa. Aim: To compare the prevalence of MetS between black South African men and women with SMI taking antipsychotic medication. Further, this prevalence was compared to the prevalence in a matched control group of black South African men and women without SMI. Setting: A general hospital psychiatric unit. Methods: A cross-sectional study was undertaken to compare the prevalence of MetS in a group of multi-ethnic participants with SMI treated with antipsychotic medication and a matched control group without SMI, applying the 2009 Joint Interim Statement (JIS criteria. Here, we included only the black African participants to compare MetS prevalence between men and women. Results: There were 232 participants in the group with SMI (male 155 and female 77 and without SMI (male 156 and female 76. The prevalence of MetS was more than three times higher in women with SMI compared to men with SMI (37.7% vs. 10.3%, p < 0.001. There was no significant difference in the prevalence of MetS in men or women between the groups with and without SMI. In multivariate logistic regression analysis, female gender (odds ratio [OR] 7.66, advancing age (OR 1.08 and longer duration of illness (OR = 1.15 were significant risk factors for MetS in SMI. Conclusion: In black South Africans with SMI on antipsychotic medication, there is a higher prevalence and risk for MetS in women compared to men.

  8. High Prevalence of Vitamin D Deficiency in Patients With Bone Marrow Edema Syndrome of the Foot and Ankle.

    Science.gov (United States)

    Horas, Konstantin; Fraissler, Lukas; Maier, Gerrit; Jakob, Franz; Seefried, Lothar; Konrads, Christian; Rudert, Maximilian; Walcher, Matthias

    2017-07-01

    Bone marrow edema syndrome (BMOS) is a phenomenon primarily affecting the lower extremity. It is characterized by a sudden onset of pain and an ill-defined osseous hyperintense signal in magnetic resonance imaging. The main cause of BMOS is still largely unknown. Its pathophysiology is presumably multifactorial and it has recently been demonstrated that it usually involves an increase in bone turnover and alterations within the bone microenvironment. Vitamin D plays a pivotal role in maintaining a healthy and well-balanced bone microenvironment. However, to date only limited information has been reported on vitamin D status in patients with BMOS. Moreover, it is still uncertain whether hypovitaminosis D is associated with the etiology and course of the disease. For this reason, the aim of this study was to determine serum vitamin D levels (25(OH)D) of patients diagnosed with BMOS of the foot and ankle. Patients were identified and laboratory results collected by retrospective review of the medical records between year 2011 and 2015. Diagnosis was based on clinical examination, the existence of prolonged foot pain, the presence of abnormal bone marrow signal intensity in T1- and T2-weighted magnetic resonance imaging, and the patient's medical history. All patients who demonstrated other concomitant diagnoses were excluded from the study. Overall, 31 patients were affected by BMOS with a mean age of 44.4 (range, 18-76) years. Notably, 84% of patients (26/31) had low vitamin D levels with a mean 25(OH)D level of 19.03 ng/mL. Specifically, 61% of patients (19/31) were vitamin D deficient, 23% (7/31) vitamin D insufficient, and only 5 patients (16%) had sufficient vitamin D levels. Statistical analysis showed no significant difference comparing vitamin D levels with patient age, sex, and time of diagnosis. Moreover, there was no correlation between vitamin D status and the number of bony foci or location of BMOS. We found a widespread rate of vitamin D deficiency in

  9. Generational Association Studies of Dopaminergic Genes in Reward Deficiency Syndrome (RDS Subjects: Selecting Appropriate Phenotypes for Reward Dependence Behaviors

    Directory of Open Access Journals (Sweden)

    Frank Fornari

    2011-11-01

    Full Text Available Abnormal behaviors involving dopaminergic gene polymorphisms often reflect an insufficiency of usual feelings of satisfaction, or Reward Deficiency Syndrome (RDS. RDS results from a dysfunction in the “brain reward cascade,” a complex interaction among neurotransmitters (primarily dopaminergic and opioidergic. Individuals with a family history of alcoholism or other addictions may be born with a deficiency in the ability to produce or use these neurotransmitters. Exposure to prolonged periods of stress and alcohol or other substances also can lead to a corruption of the brain reward cascade function. We evaluated the potential association of four variants of dopaminergic candidate genes in RDS (dopamine D1 receptor gene [DRD1]; dopamine D2 receptor gene [DRD2]; dopamine transporter gene [DAT1]; dopamine beta-hydroxylase gene [DBH]. Methodology: We genotyped an experimental group of 55 subjects derived from up to five generations of two independent multiple-affected families compared to rigorously screened control subjects (e.g., N = 30 super controls for DRD2 gene polymorphisms. Data related to RDS behaviors were collected on these subjects plus 13 deceased family members. Results: Among the genotyped family members, the DRD2 Taq1 and the DAT1 10/10 alleles were significantly (at least p < 0.015 more often found in the RDS families vs. controls. The TaqA1 allele occurred in 100% of Family A individuals (N = 32 and 47.8% of Family B subjects (11 of 23. No significant differences were found between the experimental and control positive rates for the other variants. Conclusions: Although our sample size was limited, and linkage analysis is necessary, the results support the putative role of dopaminergic polymorphisms in RDS behaviors. This study shows the importance of a nonspecific RDS phenotype and informs an understanding of how evaluating single subset behaviors of RDS may lead to spurious results. Utilization of a nonspecific

  10. Reduced MLH3 Expression in the Syndrome of Gan-Shen Yin Deficiency in Patients with Different Diseases.

    Science.gov (United States)

    Du, Juan; Zhong, Maofeng; Liu, Dong; Liang, Shufang; Liu, Xiaolin; Cheng, Binbin; Zhang, Yani; Yin, Zifei; Wang, Yuan; Ling, Changquan

    2017-01-01

    Traditional Chinese medicine formulates treatment according to body constitution (BC) differentiation. Different constitutions have specific metabolic characteristics and different susceptibility to certain diseases. This study aimed to assess the characteristic genes of gan-shen Yin deficiency constitution in different diseases. Fifty primary liver cancer (PLC) patients, 94 hypertension (HBP) patients, and 100 diabetes mellitus (DM) patients were enrolled and classified into gan-shen Yin deficiency group and non-gan-shen Yin deficiency group according to the body constitution questionnaire to assess the clinical manifestation of patients. The mRNA expressions of 17 genes in PLC patients with gan-shen Yin deficiency were different from those without gan-shen Yin deficiency. However, considering all patients with PLC, HBP, and DM, only MLH3 was significantly lower in gan-shen Yin deficiency group than that in non-gen-shen Yin deficiency. By ROC analysis, the relationship between MLH3 and gan-shen Yin deficiency constitution was confirmed. Treatment of MLH3 (-/- and -/+) mice with Liuweidihuang wan, classical prescriptions for Yin deficiency, partly ameliorates the body constitution of Yin deficiency in MLH3 (-/+) mice, but not in MLH3 (-/-) mice. MLH3 might be one of material bases of gan-shen Yin deficiency constitution.

  11. [Study on gene differential expressions of substance and energy metabolism in chronic superficial gastritis patients of Pi deficiency syndrome and of pi-wei hygropyrexia syndrome].

    Science.gov (United States)

    Yang, Ze-Min; Chen, Wei-Wen; Wang, Ying-Fang

    2012-09-01

    To analyze the metabolic levels of energy and substance in chronic superficial gastritis (CSG) patients of Pi deficiency syndrome (PDS) and of Pi-Wei hygropyrexia syndrome (PWHS), including lipid, protein, nucleic acid, carbohydrate, trace element, and energy metabolism, and to study the pathogenesis mechanism of PDS from substance and energy metabolisms. Recruited were 8 CSG patients who visited at First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine and Guangdong Provincial Hospital of Traditional Chinese Medicine from June 2004 to March 2005, including 4 patients of PDS and 4 of PWHS. Their gastric mucosae were used for experiments of DNA microarray. The dual-channel DNA microarray data were bioinformatically analyzed by BRB ArrayTools and IPA Software. Obtained were fifty-six differentially expressed genes involved in substance and energy metabolisms with the expression fold more than 2, including 11 genes up-regulated and 45 genes down-regulated. Of them, genes correlated to lipid metabolism included CRLS1, LRP11, FUT9, GPCPD1, PIGL, SULT1A4, B3GNT1, ST8SIA4, and ACADVL, mainly involved in the metabolic processes of fatty acid, cholesterol, phospholipids, and glycolipid. Genes correlated to protein metabolism included ASRGL1, AARSD1, EBNA1BP2, PUM2, MRPL52, C120RF65, PSMB8, PSME2, UBA7, RNF11, FBXO44, ZFYVE26, CHMP2A, SSR4, SNX4, RAB3B, RABL2A, GOLGA2, KDELR1, PHPT1, ACPP, PTPRF, CRKL, HDAC7, ADPRHL2, B3GNT1, ST8SIA4, DDOST, and FUT9, mainly involved in the biosynthesis processes of protein, ubiquitination, targeted transport and post-translation modification. Genes correlated to nucleic acid metabolism included DFFB, FLJ35220, TOP2A, SF3A3, CREB3, CRTC2, NR1D2, MED6, GTF2IRD1, C1ORF83, ZNF773, and ZMYND11, mainly involved in DNA replication and repair, transcription regulation. Genes correlated to carbohydrate metabolism included AGL, B3GNT1, FUT9, ST8SIA4, SULT1A4, DDOST, and PIGL, mainly involved in glucogen degradation and

  12. Reward deficiency syndrome: a biogenetic model for the diagnosis and treatment of impulsive, addictive, and compulsive behaviors.

    Science.gov (United States)

    Blum, K; Braverman, E R; Holder, J M; Lubar, J F; Monastra, V J; Miller, D; Lubar, J O; Chen, T J; Comings, D E

    2000-11-01

    behavior. In order to explain the breakdown of the reward cascade due to both multiple genes and environmental stimuli (pleiotropism) and resultant aberrant behaviors, Blum united this hypodopaminergic trait under the rubric of a reward deficiency syndrome.

  13. Risky sexual behaviour and human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) among healthcare workers.

    Science.gov (United States)

    Khamisa, Natasha; Mokgobi, Maboe

    2018-01-01

    South Africa is known to have one of the highest prevalence rates of human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) globally, with one in seven healthcare workers being HIV-positive. An HIV-positive healthcare workforce is less equipped to respond to the increasing spread of the epidemic. Assessment of the factors contributing to high HIV prevalence rates among healthcare workers is important in planning the development of human resources. This review sought to identify and understand predominant risky sexual behaviours among healthcare workers in HIV and AIDS-affected countries. This study reviewed articles focusing on sexual behaviour among healthcare workers. Major health science databases (e.g. ProQuest, Cochrane, PubMed and CINAHL) were searched for combinations of keywords including 'healthcare workers', 'risky sexual behaviour' and 'HIV and AIDS'. Articles from a range of countries met inclusion and exclusion criteria. Findings of the study revealed three main contributing factors: unprotected sex, multiple sex partners and sexual violence. Sexual violence emerged as the dominant risk factor in the majority of the studies. Most research was conducted in developed countries where the HIV infection rate is much lower than it is in developing countries. More research needs to be conducted in developing countries and appropriate strategies should be implemented to reduce sexual violence among healthcare workers. Appropriate procedures on reporting sexual violence coupled with education on HIV and AIDS as well as influencing attitudes and belief systems could assist in reducing the spread of HIV and AIDS within the healthcare workforce while minimising the effect on patient care.

  14. Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

    Science.gov (United States)

    Charbit-Henrion, Fabienne; Jeverica, Anja K; Bègue, Bernadette; Markelj, Gasper; Parlato, Marianna; Avčin, Simona Lucija; Callebaut, Isabelle; Bras, Marc; Parisot, Mélanie; Jazbec, Janez; Homan, Matjaz; Ihan, Alojz; Rieux-Laucat, Frédéric; Stolzenberg, Marie-Claude; Ruemmele, Frank M; Avčin, Tadej; Cerf-Bensussan, Nadine

    2017-03-01

    Early-onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial in defining treatment and in improving life expectancy. Herein we aimed at defining the mechanism of an immunodeficiency-polyendrocrinopathy and enteropathy-X-linked (IPEX)-like disease combined with a severe immunodeficiency in 2 siblings born from distantly related parents. Whole exome sequencing was performed on blood-extracted genomic DNA from the 2 affected children and their parents on the genomic platform of Institut IMAGINE. Candidate gene mutation was identified using the in-house software PolyWeb and confirmed by Sanger sequencing. Protein expression was determined by western blot. Flow cytometry was used to assess consequences of the mutation on lymphocyte phenotype and nuclear factor-kappa B (NF-κB) activation at diagnosis and after treatment by hematopoietic stem cell transplantation. We identified a homozygous missense mutation in mucosa-associated lymphoid tissue lymphoma translocation 1 gene (MALT1), which precluded protein expression. In keeping with the known function of MALT1, NF-κB-dependent lymphocyte activation was severely impaired. Moreover, there was a drastic reduction in Forkhead box P3 (FOXP3) regulatory T cells accounting for the IPEX-like phenotype. Following identification of the mutation, both children received hematopoietic stem cell transplantation, which permitted full clinical recovery. Immunological workup at 6 and 12 months after transplantation showed normal NF-κB activation and correction of regulatory T cells frequency. Along with FOXP3, interleukin 2 receptor alpha chain (IL2RA), and cytotoxic T-lymphocyte protein 4 precursor (CTLA-4) mutations, MALT1 deficiency should now be considered as a possible cause of IPEX-like syndrome associated with immunodeficiency that can be cured by hematopoietic stem cell transplantation.

  15. Project youth inform--a school-based sexually transmitted disease/acquired immune deficiency syndrome education programme.

    Science.gov (United States)

    Soon, T; Chan, R K; Goh, C L

    1995-07-01

    A pilot project, ¿Youth Inform¿ endorsed by the Ministry of Health and Ministry of Education, Singapore, was undertaken in 1992 for 2 years. It aims to enhance sexually transmitted disease (STDs)/human immunodeficiency virus (HIV) control in Singapore by providing structured information for young people between the ages of 16 to 20 years in Polytechnics, Junior Colleges, Centralised Institutes and Pre-University Centres. Project Youth Inform comprises 8 components. They include a focus group discussion, a training seminar for teachers, a lecture/slide presentation cum question-and-answer session, an educational booklet/bookmark, exhibitions, a video, provisions for anonymous questions, and an evaluation. The programme is conducted during school hours at the premises of the institutions and the attendance per session is between 150 to 350 students. A total of 152 sessions have been completed for all the schools. It is ongoing and is currently administered by the School Health Service and Training and Health Education Department. Feedback from principals, teachers and students was gathered formally through surveys and informally through interviews and observations. One thousand students were randomly selected for the survey to assess their responses towards the programme. Eighty-six percent reported that they found it educational and informative. Indicators found to have an influence on the effectiveness of the programme were timing, vocabulary used (medical terms) and integration of the programme into the school's curriculum. In conclusion, Project Youth Inform was on the whole positively received. However, it is essential to constantly accommodate and adapt to new facts and methods of teaching and maintain close coordination with the Ministries and the schools. An effective STD/acquired immune deficiency syndrome programme is an important step towards the prevention, management and control of the epidemic.

  16. Risky sexual behaviour and human immunodeficiency virus (HIV and acquired immune deficiency syndrome (AIDS among healthcare workers

    Directory of Open Access Journals (Sweden)

    Natasha Khamisa

    2018-01-01

    Full Text Available Background: South Africa is known to have one of the highest prevalence rates of human immunodeficiency virus (HIV and acquired immune deficiency syndrome (AIDS globally, with one in seven healthcare workers being HIV-positive. An HIV-positive healthcare workforce is less equipped to respond to the increasing spread of the epidemic. Objectives: Assessment of the factors contributing to high HIV prevalence rates among healthcare workers is important in planning the development of human resources. This review sought to identify and understand predominant risky sexual behaviours among healthcare workers in HIV and AIDS-affected countries. Methods: This study reviewed articles focusing on sexual behaviour among healthcare workers. Major health science databases (e.g. ProQuest, Cochrane, PubMed and CINAHL were searched for combinations of keywords including ‘healthcare workers’, ‘risky sexual behaviour’ and ‘HIV and AIDS’. Articles from a range of countries met inclusion and exclusion criteria. Results: Findings of the study revealed three main contributing factors: unprotected sex, multiple sex partners and sexual violence. Sexual violence emerged as the dominant risk factor in the majority of the studies. Most research was conducted in developed countries where the HIV infection rate is much lower than it is in developing countries. Conclusion: More research needs to be conducted in developing countries and appropriate strategies should be implemented to reduce sexual violence among healthcare workers. Appropriate procedures on reporting sexual violence coupled with education on HIV and AIDS as well as influencing attitudes and belief systems could assist in reducing the spread of HIV and AIDS within the healthcare workforce while minimising the effect on patient care.

  17. [The burn-out syndrome and restoring mental health at the working place].

    Science.gov (United States)

    Bauer, Joachim; Häfner, Steffen; Kächele, Horst; Wirsching, Michael; Dahlbender, Reiner W

    2003-05-01

    This paper reviews the scientific concepts and the clinical aspects of the burn-out syndrome. According to recent studies, up to 25 % of the German working population appear to suffer from what the Amercan physician and psychoanalyst, Herbert Freudenberger, has designated in 1974 as "burn-out syndrome". Characteristic features of this syndrome are emotional exhaustion, depersonalization and low personal accomplishment. People affected by the burn-out syndrome may suffer from depressive or anxious symptoms, from sleep disorders, chronic pain syndromes, or functional disorders of the cardiovascular or gastrointestinal system. Primary causes of the burnout syndrome include high demand combined with low influence, a high level of engagement without sufficient rewards or gratification, and a low level of social support. Preventive measures against burn-out include Balint-like supervision groups. In cases of a fully developed burn-out syndrome, affected persons should undergo either psychotherapy or a multimodal psychosomatic therapy.

  18. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... deletion, there remains a large variation in the development and progression of psychiatric disorders, which suggests that alternative factors contribute to the pathogenesis. In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate...

  19. Prevalence and association of metabolic syndrome and vitamin D deficiency among postmenopausal women in a rural block of West Bengal, India.

    Science.gov (United States)

    Srimani, Soumi; Saha, Indranil; Chaudhuri, Debnath

    2017-01-01

    Prevalence of metabolic syndrome (MS) and vitamin D deficiency was reported among postmenopausal women (PMW) in India. However, no report is available regarding the association of MS and 25-hydroxyvitamin D [25(OH)D] among PMW in India. This study aimed to find out the prevalence of MS and 25(OH)D status as well as their association among rural PMW of West Bengal, India. This cross-sectional study was conducted among 222 randomly selected rural PMW in Singur Block, West Bengal, India. Serum 25(OH)D, Blood pressure (BP), waist circumference (WC), fasting blood glucose (FBG), triglycerides (TG) and high density lipoprotein cholesterol (HDL-C) were measured using standard procedures. MS was defined as per International Diabetes Federation, 2005 (for Asian-Indians) criteria. Statistical tests were done using SPSS software. Prevalence of metabolic syndrome was 46%. 51% and 19% PMW were vitamin D insufficient and deficient, respectively. 22% and 53% women having MS were vitamin D insufficient and deficient, respectively. Among the PMW, 21% and 47% with WC≥80cm; 22% and 62% with FBG≥110mg/dl; 21% and 54% with TG≥150mg/dl; 23% and 51% with HDL-CWest Bengal, India. 25(OH)D had significant inverse and direct relationship with FBG and WC. Low 25(OH)D may be one of the potential risk factors for developing MS in PMW or vice-versa.

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Search Form Search the NHLBI, use the drop down list to select: the entire site, the Health ... who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause ... as complete blood count and iron studies. Prevent complications over your lifetime To prevent complications from iron- ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... people who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a strong urge to move the legs. This urge to move often occurs with strange ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... as ice, dirt, paint, or starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause the following complications: Depression Heart problems. If you ...

  4. Deletion 17p11.2 (Smith-Magenis syndrome) is relatively common among patients having mental retardation and myopia

    Energy Technology Data Exchange (ETDEWEB)

    Finucane, B.; Jaeger, E.R. [Elwyn, Inc. PA (United States); Freitag, S.K. [Jefferson Medical College, Philadelphia, PA (United States)

    1994-09-01

    We recently reported the finding of moderate to severe myopia in 6 of 10 patients with Smith-Magenis syndrome (SMS). To investigate the prevalence of SMS among mentally retarded people having myopia, we surveyed a cohort of patients residing at a facility for individuals with mental retardation (MR). Of 547 institutionalized individuals with MR, 72 (13.2%) had moderate to high myopia defined as a visual acuity of minus 3 diopters or more. It should be noted that our institution does not specifically select for people with visual impairment; rather, the facility serves people with a primary diagnosis of MR. Sixty-five of 72 (90.3%) myopic individuals identified were available for cytogenetic analysis. Seventeen (26.2%) of these patients had trisomy 21. Down syndrome (DS) is well known to be associated with eye abnormalities, including myopia. Of 48 individuals with moderate to high myopia not having DS, 5 (10.4%) were shown to have deletions of 17p11.2. This is a high prevalence considering the relative rarity of SMS. By contrast, in a randomized sample of 48 patients without significant myopia at the same facility, we found no individuals with deletion 17p11.2. We conclude that the diagnosis of SMS should be considered in any non-Down syndrome individual having MR and myopia, and that ophthalmologists serving people with MR should be made aware of this deletion syndrome. Furthermore, our results suggest that significant numbers of people having SMS could be identified through selective institutional screening of patients having a combination of MR and moderate to severe myopia.

  5. Mice Exposed to Chronic Intermittent Hypoxia Simulate Clinical Features of Deficiency of both Qi and Yin Syndrome in Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Chengzhi Chai

    2011-01-01

    Full Text Available Deficiency of both Qi and Yin Syndrome (DQYS is one of the common syndromes in traditional Chinese medicine (TCM, mainly characterized by tiredness, emaciation, anorexia, fidget, palpitation and rapid pulse, and so forth. Currently, there is no available animal model which can reflect the clinical features of this syndrome. In the present paper, we observed the time-course changes of whole behavior, body weight, food intake, locomotive activity and electrocardiogram in mice exposed to chronic intermittent hypoxia for 6 weeks, and measured bleeding time at last according to the clinical features of DQYS and one key pathological factor. The results showed that the mice exposed to intermittent hypoxia for certain time presented lackluster hair, dull looking hair, resistance, attacking, body weight loss, food intake decline, locomotive activity decrease, heart rate quickening and T wave elevating, which were similar to the major clinical features of DQYS. Meanwhile, bleeding time shortening was also found, which was consistent with the clinical fact that DQYS often accompanied with blood stasis. The possible explanation was also outlined according to the available literature. Such findings suggested chronic intermittent hypoxia could induce similar symptoms and signs in mice accorded with the clinical features of DQYS, which provided a suitable animal model for evaluation of drugs for the treatment of this syndrome and further exploration of pathological process or correlation of the syndrome and related diseases.

  6. Dietary Omega-3 Fatty Acid Deficiency and High Fructose Intake in the Development of Metabolic Syndrome, Brain Metabolic Abnormalities, and Non-Alcoholic Fatty Liver Disease

    Directory of Open Access Journals (Sweden)

    Artemis P. Simopoulos

    2013-07-01

    Full Text Available Western diets are characterized by both dietary omega-3 fatty acid deficiency and increased fructose intake. The latter found in high amounts in added sugars such as sucrose and high fructose corn syrup (HFCS. Both a low intake of omega-3 fatty acids or a high fructose intake contribute to metabolic syndrome, liver steatosis or non-alcoholic fatty liver disease (NAFLD, promote brain insulin resistance, and increase the vulnerability to cognitive dysfunction. Insulin resistance is the core perturbation of metabolic syndrome. Multiple cognitive domains are affected by metabolic syndrome in adults and in obese adolescents, with volume losses in the hippocampus and frontal lobe, affecting executive function. Fish oil supplementation maintains proper insulin signaling in the brain, ameliorates NAFLD and decreases the risk to metabolic syndrome suggesting that adequate levels of omega-3 fatty acids in the diet can cope with the metabolic challenges imposed by high fructose intake in Western diets which is of major public health importance. This review presents the current status of the mechanisms involved in the development of the metabolic syndrome, brain insulin resistance, and NAFLD a most promising area of research in Nutrition for the prevention of these conditions, chronic diseases, and improvement of Public Health.

  7. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tsigos, C.; Arai, K.; Latronico, A.C. [National Inst. of Child Health and Human Development, Bethesda, MD (United States)]|[Temple Univ. School of Medicine, Philadelphia, PA (United States)]|[Children`s Hospital of New Jersey, Newark, NJ (United States)] [and others

    1995-07-01

    Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.

  8. Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.

    Science.gov (United States)

    Jamwal, Manu; Aggarwal, Anu; Kumar, Verinder; Sharma, Prashant; Sachdeva, Man Updesh Singh; Bansal, Deepak; Malhotra, Pankaj; Das, Reena

    2016-07-01

    Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by heterogeneous clinical presentations with variable degrees of anemia, jaundice, splenomegaly and gallstones. Although the underlying genetic defects in red cell membrane proteins may explain many phenotypic variations, a proportion of variability may be due to other co-inherited factors like enzymopathies, thalassemias and Gilbert syndrome. Associations of HS with glucose-6-phosphate dehydrogenase (G6PD) deficiency and Gilbert syndrome in isolation have been reported previously. We describe 3 adult cases of HS with concomitant Gilbert syndrome and G6PD-Mediterranean mutations (2 hemizygous males, aged 15 and 35y and 1 heterozygous 25-y female). Two patients required multiple transfusions that required splenectomy for management. One patient (15y male) also carried the single gene alpha 4.2 deletion and was less symptomatic. These cases illustrate the importance of clinico-pathological correlation and judicious extended testing for various contributing factors that may modify the clinical course of HS patients. G6PD deficiency is also a common enzymopathy in India and can contribute to the phenotypic heterogeneity. Its recognition is important for advising avoidance of oxidizing drug exposure. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. What makes “a mental illness?” What makes “a new mental illness”?: The cases of solastalgia and hubris syndrome.

    Directory of Open Access Journals (Sweden)

    Seamus P MacSuibhne

    2009-11-01

    Full Text Available

    What is a “mental illness”? What is an “illness”? What does the description and classification of “mental illnesses” actually involve, and is the description of “new” mental illnesses description of actually existing entities, or the creation of them?  “Solastalgia” is a neologism, invented by the Australian environmental philosopher Glenn Albrecht, to give greater meaning and clarity to psychological distress caused by environmental change (Albrecht et al 2007 The concept received some coverage in the international mass media in late 2007 (Thompson, 2007 Much of this described solastalgia as “a new concept in mental illness”, a description endorsed by Albrecht himself. The doctor and former British Foreign Secretary, Lord Owen, has coined the phrase “hubris syndrome” to describe the mindset of prime ministers and presidents whose behaviour is characterised by reckless, hubristic belief in their own rightness. This paper uses both the concept of solastalgia and the related concepts Albrecht posited of psychoterratic and somaterratic illnesses and hubris syndrome as a starting point to explore issues around the meaning of mental illness, and what it means to describe and classify mental illness.

  10. Systemic Scedosporium prolificans infection in an 11-month-old Border collie with cobalamin deficiency secondary to selective cobalamin malabsorption (canine Imerslund-Gräsbeck syndrome).

    Science.gov (United States)

    Erles, K; Mugford, A; Barfield, D; Leeb, T; Kook, P H

    2018-04-01

    An 11-month-old Border collie presented collapsed and continued to deteriorate rapidly despite supportive treatment. The dog had a history of failure to thrive and recurring respiratory infection. Laboratory abnormalities included neutrophilic leucocytosis, Heinz body anaemia, hyperammonaemia, hyperbilirubinaemia, proteinuria and hypocobalaminaemia. Post-mortem examination revealed multi-focal necrosis within the heart, kidneys, pancreas, liver, meninges and cerebral cortex. Fungal hyphae in lesions were identified as Scedosporium prolificans following culture. Subsequent genotyping confirmed that the dog carried the CUBN:c.8392delC mutation in a homozygous state, verifying hereditary cobalamin deficiency (a.k.a. Imerslund-Gräsbeck syndrome). Cobalamin deficiency may have been a predisposing factor for the development of systemic fungal infection in this dog. © 2017 British Small Animal Veterinary Association.

  11. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

    Science.gov (United States)

    Marzuillo, Pierluigi; Grandone, Anna; Coppola, Ruggero; Cozzolino, Domenico; Festa, Adalgisa; Messa, Federica; Luongo, Caterina; Del Giudice, Emanuele Miraglia; Perrone, Laura

    2013-02-23

    Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.

  12. Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

    Science.gov (United States)

    Coppens, Sandra; Koralkova, Pavla; Aeby, Alec; Mojzikova, Renata; Deconinck, Nicolas; Kadhim, Hazim; van Wijk, Richard

    2016-03-01

    We report two brothers with mild intellectual deficiency, exercise intolerance, rhabdomyolysis, seizures and no hemolysis. Phosphoglycerate kinase (PGK) activity was strongly decreased in their red blood cells. Subsequent molecular analysis of PGK1 revealed hemizygosity for a novel mutation c.756 + 3A > G, in intron 7. Analysis of the effect of this mutation on pre-mRNA processing demonstrated markedly decreased levels of normal PGK1 mRNA. In addition, the c.756 + 3A > G change resulted in abnormally spliced transcripts. If translated, these transcripts mostly encode for C-terminally truncated proteins. The consequences of the c.756 + 3A > G mutation is discussed, as well as the genotype-to-phenotype correlation with regard to previously described mutations (PGK Fukuroi and PGK Antwerp), which also result in C-terminal truncated proteins. Copyright © 2016 Elsevier B.V. All rights reserved.

  13. West Syndrome in an Infant with Vitamin B[subscript 12] Deficiency in the Absence of Macrocytic Anaemia

    Science.gov (United States)

    Erol, Ilknur; Alehan, Fusun; Gumus, Ayten

    2007-01-01

    Vitamin B[subscript 12] deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B[subscript 12] deficiency can be difficult when the typical macrocytic…

  14. Autism, ADHD, Mental Retardation and Behavior Problems in 100 Individuals with 22q11 Deletion Syndrome

    Science.gov (United States)

    Niklasson, Lena; Rasmussen, Peder; Oskarsdottir, Solveig; Gillberg, Christopher

    2009-01-01

    This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention…

  15. Behavioral Profiles in Phelan-McDermid Syndrome: Focus on Mental Health

    Science.gov (United States)

    Shaw, Steven R.; Rahman, Amira; Sharma, Akanksha

    2011-01-01

    Phelan-McDermid syndrome (PMS) is a multiple congenital anomalies and intellectual disabilities syndrome associated with a deletion of chromosome 22 terminal band 13.3. The deletion is associated with severe intellectual disabilities, absent or delayed speech, behavior problems, and autism. The objective of this study was to provide a detailed…

  16. Relative risk of diabetes, dyslipidaemia, hypertension and the metabolic syndrome in people with severe mental illnesses: Systematic review and metaanalysis

    Directory of Open Access Journals (Sweden)

    King Michael B

    2008-09-01

    Full Text Available Abstract Background Severe mental illnesses (SMI may be independently associated with cardiovascular risk factors and the metabolic syndrome. We aimed to systematically assess studies that compared diabetes, dyslipidaemia, hypertension and metabolic syndrome in people with and without SMI. Methods We systematically searched MEDLINE, EMBASE, CINAHL & PsycINFO. We hand searched reference lists of key articles. We employed three search main themes: SMI, cardiovascular disease, and each cardiovascular risk factor. We selected cross-sectional, case control, cohort or intervention studies comparing one or more risk factor in both SMI and a reference group. We excluded studies without any reference group. We extracted data on: study design, cardiovascular risk factor(s and their measurement, diagnosis of SMI, study setting, sampling method, nature of comparison group and data on key risk factors. Results Of 14592 citations, 134 papers met criteria and 36 were finally included. 26 reported on diabetes, 12 hypertension, 11 dyslipidaemia, and 4 metabolic syndrome. Most studies were cross sectional, small and several lacked comparison data suitable for extraction. Meta-analysis was possible for diabetes, cholesterol and hypertension; revealing a pooled risk ratio of 1.70 (1.21 to 2.37 for diabetes and 1.11 (0.91 to 1.35 of hypertension. Restricting SMI to schizophreniform illnesses yielded a pooled risk ratio for diabetes of 1.87 (1.68 to 2.09. Total cholesterol was not higher in people with SMI (Standardized Mean Difference -0.10 (-0.55 to 0.36 and there were inconsistent data on HDL, LDL and triglycerides with some, but not all, reporting lower levels of HDL cholesterol and raised triglyceride levels. Metabolic syndrome appeared more common in SMI. Conclusion Diabetes (but not hypertension is more common in SMI. Data on other risk factors were limited by poor quality or inconsistent research findings, but a small number of studies show greater prevalence

  17. High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Kumari, Daman; Swaroop, Manju; Southall, Noel; Huang, Wenwei; Zheng, Wei; Usdin, Karen

    2015-07-01

    : Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X mental retardation protein (FMRP). In most patients, the absence of FMRP is due to an aberrant transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene. FXS has no cure, and the available treatments only provide symptomatic relief. Given that FMR1 gene silencing in FXS patient cells can be partially reversed by treatment with compounds that target repressive epigenetic marks, restoring FMRP expression could be one approach for the treatment of FXS. We describe a homogeneous and highly sensitive time-resolved fluorescence resonance energy transfer assay for FMRP detection in a 1,536-well plate format. Using neural stem cells differentiated from an FXS patient-derived induced pluripotent stem cell (iPSC) line that does not express any FMRP, we screened a collection of approximately 5,000 known tool compounds and approved drugs using this FMRP assay and identified 6 compounds that modestly increase FMR1 gene expression in FXS patient cells. Although none of these compounds resulted in clinically relevant levels of FMR1 mRNA, our data provide proof of principle that this assay combined with FXS patient-derived neural stem cells can be used in a high-throughput format to identify better lead compounds for FXS drug development. In this study, a specific and sensitive fluorescence resonance energy transfer-based assay for fragile X mental retardation protein detection was developed and optimized for high-throughput screening (HTS) of compound libraries using fragile X syndrome (FXS) patient-derived neural stem cells. The data suggest that this HTS format will be useful for the identification of better lead compounds for developing new therapeutics for FXS. This assay can also be adapted for FMRP detection in clinical and research settings. ©AlphaMed Press.

  18. Syndromes and Disorders Associated with Omphalocele (III: Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

    Full Text Available Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick–Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen–Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall–Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai–Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello–Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosis- mental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders.

  19. Deficiency of GABAergic synaptic inhibition in the Kölliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome.

    Science.gov (United States)

    Abdala, Ana Paula; Toward, Marie A; Dutschmann, Mathias; Bissonnette, John M; Paton, Julian F R

    2016-01-01

    Life threatening breathing irregularity and central apnoeas are highly prevalent in children suffering from Rett syndrome. Abnormalities in inhibitory synaptic transmission have been associated with the physiopathology of this syndrome, and may underlie the respiratory disorder. In a mouse model of Rett syndrome, GABAergic terminal projections are markedly reduced in the Kölliker-Fuse nucleus (KF) in the dorsolateral pons, an important centre for control of respiratory rhythm regularity. Administration of a drug that augments endogenous GABA localized to this region of the pons reduced the incidence of apnoea and the respiratory irregularity of Rett female mice. Conversely, the respiratory disorder was recapitulated by blocking GABAergic transmission in the KF area of healthy rats. This study helps us understand the mechanism for generation of respiratory abnormality in Rett syndrome, pinpoints a brain site responsible and provides a clear anatomical target for the development of a translatable drug treatment. Central apnoeas and respiratory irregularity are a common feature in Rett syndrome (RTT), a neurodevelopmental disorder most often caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). We used a MECP2 deficient mouse model of RTT as a strategy to obtain insights into the neurobiology of the disease and into mechanisms essential for respiratory rhythmicity during normal breathing. Previously, we showed that, systemic administration of a GABA reuptake blocker in MECP2 deficient mice markedly reduced the occurrence of central apnoeas. Further, we found that, during central apnoeas, post-inspiratory drive (adductor motor) to the upper airways was enhanced in amplitude and duration in Mecp2 heterozygous female mice. Since the pontine Kölliker-Fuse area (KF) drives post-inspiration, suppresses inspiration, and can reset the respiratory oscillator phase, we hypothesized that synaptic inhibition in this area is essential for respiratory rhythm

  20. PP105. Mental health problems following preeclampsia or HELLP syndrome: Do we have a case? A systematic review.

    Science.gov (United States)

    Delahaije, D; Dirksen, C; Peeters, L; Smits, L

    2012-07-01

    Women who suffered from pregnancy complications seem at higher risk for mental health problems. A common pregnancy complication is preeclampsia (PE) and the HELLP syndrome. To review the literature and to investigate whether former PE/HELLP patients are more likely to have mental health problems or more severe mental health problems, as compared to women without a history of PE/HELLP, and to investigate whether PE/HELLP is an independent risk factor for developing mental health problems. We performed a systematic search on PubMed and PsycInfo in July 2011. Studies had to present original data, consider postpartum depression, anxiety, or posttraumatic stress as outcomes, include both women with a history of PE/HELLP syndrome and at least one comparison group of women who had not experienced PE/HELLP, present the results for each group separately, or present the results of a multivariate regression analysis in which the diagnosis of PE/HELLP was considered as a factor, or both. Information on study design, participants and outcomes of interest for the current review were extracted using a prespecified form. Furthermore, a short critical appraisal checklist was used in order to evaluate the appropriateness of the studies in light of our specific review questions. For the purpose of the second review question, confounder control and handling of intermediate variables were specifically considered important. The search resulted in 227 articles, of which six were included. Four studies were historical cohort studies, two prospective. With respect to depression, the evidence is mixed. Out of the six studies addressing depression, all studies showed positive associations between PE/HELLP and the prevalence of depression or severity of depressive symptoms. However, the results of three of them were not statistically significant. The two studies addressing anxiety did not show a statistically significant association between PE and anxiety scores, although differences were in

  1. The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children.

    Science.gov (United States)

    Swillen, A; Glorieux, N; Peeters, M; Fryns, J P

    1995-10-01

    In this report we present data on cognitive development, language, behavior and social skills in 12 children and adolescents, nine girls and three boys, aged between 2.5 and 19 years, with Coffin-Siris syndrome (CS). 1. Mental retardation was mild in three patients and moderate in the nine others. 2. Speech onset was severely retarded with little interest in language. In the older group (seven patients aged 7 to 19 years), language comprehension was appropriate to the mental level. 3. Gross-motor functioning and autonomy, with the lowest score on "Task-orientation", were equal to the mental development. 4. Most frequently, aggressive disturbed behavior was observed, especially in the youngest children, while mixed disturbed behavior was observed in the oldest patients. Almost half of the CS patients (5/11) presented symptoms of pervasive developmental disorder, with 2/11 scoring in the pathological range. Obsessive interests, strong dependence on patterns and rituals and unusual fears were characteristic behavioral problems also when they got older.

  2. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.

    Science.gov (United States)

    Pasquali, Marzia; Schwarz, Elisabeth; Jensen, Maren; Yuzyuk, Tatiana; DeBiase, Irene; Randall, Harper; Longo, Nicola

    2014-03-01

    Guanidinoacetate methyltransferase (GAMT) deficiency causes brain creatine deficiency characterized by developmental delays, speech delay, seizures and autism-like behavior. Identification and therapy at birth because of a positive family history has prevented intellectual disability and seizures in all cases reported. The objective of this study was to develop a method to identify patients with GAMT deficiency from newborn screening blood spots. Creatine and guanidinoacetate were extracted from 10,000 deidentified blood spots using the same protocol routinely used for newborn screening and quantified by stable isotope dilution using deuterated creatine and guanidinoacetate as internal standards. Residual dried blood spots from three infants with GAMT deficiency were used to evaluate the sensitivity of the method. A second tier test using UPLC-MS/MS was performed to analyze samples with a concentration of guanidinoacetate >2.44 μmol/L (99.5th centile of the normal population). Fifty four blood spots required second tier testing in addition to seven blood spots from three patients with GAMT deficiency retrospectively analyzed. With second tier testing, only the samples from GAMT deficiency patients had elevated concentration of guanidinoacetate. Our results show that GAMT deficiency can be identified in newborns using routine extraction methods. The cost of this additional screening is minimal, as it does not require additional instrumentation, procedure, or sample collection. The use of a second tier test can reduce the false positive rate to a minimum. Summary Brain creatine deficiency syndromes cause mental retardation that can be prevented if therapy is initiated early in life. This manuscript reports that infants with GAMT deficiency (one of the brain creatine deficiency syndromes) can be identified from elevated guanidinoacetate in newborn blood spots with virtually absent false-positive results using a second tier test.

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... who have iron-deficiency anemia develop restless legs syndrome (RLS). RLS is a disorder that causes a ... Topics Anemia Blood Tests Blood Transfusion Restless Legs Syndrome Other Resources Non-NHLBI Resources Anemia (MedlinePlus) "Dietary ...

  4. Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

    Science.gov (United States)

    Bakhtiar, Shahrzad; Ruemmele, Frank; Charbit-Henrion, Fabienne; Lévy, Eva; Rieux-Laucat, Frédéric; Cerf-Bensussan, Nadine; Bader, Peter; Paetow, Ulrich

    2016-01-01

    Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1) presented at 6 months of age with intractable enteropathy and failure to thrive. Later on, he developed symptoms of adrenal insufficiency, autoimmune hemolytic anemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2) presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency. Using whole exome sequencing, we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29) in the LRBA gene in both siblings. To our knowledge, our patient (Patient 2) is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are

  5. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

    Science.gov (United States)

    Guo, Michael H; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W; Hirschhorn, Joel N; Dauber, Andrew

    2013-10-01

    Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers-Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers-Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers-Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers-Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. Copyright © 2013 Wiley Periodicals, Inc.

  6. Williams-Beuren syndrome associated with single kidney and ...

    African Journals Online (AJOL)

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with ...

  7. Is postural control associated with mental functioning in the persistent postconcussion syndrome?

    NARCIS (Netherlands)

    Geurts, A. C.; Knoop, J. A.; van Limbeek, J.

    1999-01-01

    Objective: To investigate whether balance is associated with mental functioning after mild traumatic brain injury (MTBI). Design: Experimental two-group design. Setting: Outpatient rehabilitation department. Patients and Other Participants: From a consecutive sample of referred MTBI patients, 15

  8. Can We Predict Psychosis Outside the Clinical High-Risk State? A Systematic Review of Non-Psychotic Risk Syndromes for Mental Disorders

    Science.gov (United States)

    Lee, Tae Young; Lee, Junhee; Kim, Minah; Choe, Eugenie

    2018-01-01

    Abstract Recent evidence has suggested that psychosis could develop not only in people at clinical high risk for psychosis (CHR-P) but also in those with clinical risk syndromes for emergent nonpsychotic mental disorders. The proportion of people with these clinical risk syndromes who will develop psychosis rather than to other nonpsychotic mental disorders is undetermined. Electronic databases were searched for studies reporting on clinical risk syndromes for the development of emergent nonpsychotic mental disorders. Incidence of emerging psychotic and nonpsychotic mental disorders defined on the ICD or DSM. Of a total of 9 studies relating to 3006 nonpsychotic at-risk individuals were included. Within prospective studies (n = 4, sample = 1051), the pooled incidence of new psychotic disorders across these clinical risk syndromes was of 12.9 per 1000 person-years (95% CI: 4.3 to 38.6) and that of nonpsychotic disorders (n = 3, sample = 538) was of 43.5 per 1000 person-years (95% CI: 30.9 to 61.3). Psychotic disorders may emerge outside the CHR-P paradigm, from clinical risk syndromes for incident nonpsychotic disorders, albeit at lower rates than in the CHR-P group. The clinical risk syndromes for emerging nonpsychotic disorders may exhibit a pluripotential risk of developing several types of mental disorders compared with CHR-P. If substantiated by future research, the current findings suggest that it may be useful to move beyond the current strategy of identifying individuals meeting CHR-P criteria only. PMID:29438561

  9. Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

    OpenAIRE

    Belousova, Elena; Sukhorukov, Vladimir; Dorofeeva, Marina; Shagam, Lev; Vlodavetz, Dmitrii V.

    2017-01-01

    Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS. Case study. The female child was born at term by normal de...

  10. Iodine deficiency disorders

    International Nuclear Information System (INIS)

    Ali, S.M.

    1993-01-01

    Iodine deficiency (IDD) is one of the common problem in the diet. Iodine deficiency as prevalence of goiter in population occurs in the mountainous areas. There is consensus that 800 million people are at risk of IDD from living in iodine deficient area and 190 million from goiter. Very high prevalence of IDD in different parts of the world are striking. It has generally observed that in iodine-deficient areas about 50% are affected with goiter, 1-5% from cretinsim and 20% from impaired mental and/or mortor function. (A.B.)

  11. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

    Iron deficiency anemia still remains problematic worldwide. Iron deficiency without anemia is often undiagnosed. We reviewed, in this study, symptoms and syndromes associated with iron deficiency with or without anemia: fatigue, cognitive functions, restless legs syndrome, hair loss, and chronic heart failure. Iron is absorbed through the digestive tract. Hepcidin and ferroportin are the main proteins of iron regulation. Pathogenic micro-organisms or intestinal dysbiosis are suspected to influence iron absorption. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  12. Insulin resistance in Saudi postmenopausal women with and without metabolic syndrome and its association with vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Eman M. Alissa, PhD

    2015-03-01

    Conclusions: These observations suggest that hypovitaminosis D may be associated with the risk of developing metabolic syndrome. Interrelationships between IR, metabolic syndrome, and hypovitaminosis D are of particular interest in Saudi population, given the high prevalence of these conditions in this region.

  13. Study of duplication 24bp of ARX gene among patients presenting a Mental Retardation with a syndromic and non syndromic forms

    International Nuclear Information System (INIS)

    Essouissi, Imen

    2006-01-01

    Mental Retardation (MR) is the most frequent handicap. It touches 3% of the general population. The genetic causes of this handicap account for 40% of these cases. ARX gene (Aristaless related homeobox gene) belongs to the family of the genes homeobox located in Xp22.1. It is considered as the most frequently muted gene after the FMR1 gene. It is implicated in various forms of syndromic and nonsyndromic MR. Several types of mutation were identified on the level of this gene, including deletions/insertions, duplications, missense and nonsense mutations, responsible for a wide spectrum of phenotypes. The goal of this work is to seek the most frequent change of gene ARX: duplication 24pb (at the origin of an expansion of the field poly has protein ARX in the position 144-155AA) among Tunisian boys presenting in particular family forms of non specific MR, sporadic forms of non specific MR like certain patients presenting a West syndrome.To prove the duplication of 24 Pb, we used in this work the Pcr technique. The change of duplication 24pb was not found in our series, this could be explained by the low number of cases family studied (38 families) and by the absence of connection studies accusing a mode of transmission related to X chromosome in particular for the sporadic cases. (Author)

  14. Mental Strain and Chronic Stress among University Students with Symptoms of Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Marco D. Gulewitsch

    2013-01-01

    Full Text Available Aim. To investigate the degree of mental strain and chronic stress in a German community sample of students with IBS-like symptoms. Methods and Materials. Following an internet-based survey about stress, this study recruited 176 German university students (23.45±2.48 years; 48.3% males with IBS-like symptoms according to Rome III and 181 students without IBS (23.55±2.82 years; 50.3% males and compared them regarding current mental strain (SCL-90-R and the extend of chronic stress. Beyond this, IBS subtypes, IBS severity, and health care utilization were assessed. Results. Students fulfilling IBS criteria showed significantly elevated values of mental strain and chronic stress. Nearly 40% of the IBS group (versus 20% of the controls reached a clinically relevant value on the SCL-90-R global severity scale. IBS subtypes did not differ in terms of mental distress or chronic stress. Somatization, anxiety, and the chronic stressors “work overload,” “social tension,” and “dissatisfaction with job” were most closely connected to IBS symptom severity. Regarding health care utilization, our results show that consulting a physician frequently was not associated significantly with elevated mental strain or chronic stress but with IBS symptom severity. Conclusion. Our data contribute additional evidence to the distinct association between psychological stress and IBS in community samples.

  15. Kabuki Syndrome: a case report with severe ocular abnormalities

    Directory of Open Access Journals (Sweden)

    Flavio Mac Cord Medina

    2013-10-01

    Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

  16. Cerebro-costo-mandibular syndrome

    International Nuclear Information System (INIS)

    Flodmark, P.; Wattsgaard, C.

    2001-01-01

    Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognatia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission. (orig.)

  17. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

    Science.gov (United States)

    Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold

    2016-01-01

    ABSTRACT HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI‐anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability. In about half of the patients with the clinical diagnosis of HPMRS, pathogenic mutations can be identified in the coding region in one of the six genes, one among them is PGAP3. In this work, we describe a screening approach with sequence specific baits for transcripts of genes of the GPI pathway that allows the detection of functionally relevant mutations also including introns and the 5′ and 3′ UTR. By this means, we also identified pathogenic noncoding mutations, which increases the diagnostic yield for HPMRS on the basis of intellectual disability and elevated serum alkaline phosphatase. In eight affected individuals from different ethnicities, we found seven novel pathogenic mutations in PGAP3. Besides five missense mutations, we identified an intronic mutation, c.558‐10G>A, that causes an aberrant splice product and a mutation in the 3′UTR, c.*559C>T, that is associated with substantially lower mRNA levels. We show that our novel screening approach is a useful rapid detection tool for alterations in genes coding for key components of the GPI pathway. PMID:27120253

  18. Severe Infections are Common in Thiamine Deficiency and May be Related to Cognitive Outcomes: A Cohort Study of 68 Patients With Wernicke-Korsakoff Syndrome.

    Science.gov (United States)

    Wijnia, Jan W; Oudman, Erik; van Gool, Willem A; Wierdsma, André I; Bresser, Esmay L; Bakker, Jan; van de Wiel, Albert; Mulder, Cornelis L

    Wernicke encephalopathy can have different clinical outcomes. Although infections may precipitate the encephalopathy itself, it is unknown whether infections also modify the long-term outcome in patients developing Korsakoff syndrome. To determine whether markers of infection, such as white blood cell (WBC) counts and absolute neutrophil counts in the Wernicke phase, are associated with cognitive outcomes in the end-stage Korsakoff syndrome. Retrospective, descriptive study of patients admitted to Slingedael Korsakoff Center, Rotterdam, The Netherlands. Hospital discharge letters of patients with Wernicke encephalopathy were searched for relevant data on infections present upon hospital admission. Patients were selected for further analysis if data were available on WBC counts in the Wernicke phase and at least 1 of 6 predefined neuropsychological tests on follow-up. Infections were reported in 35 of 68 patients during the acute phase of Wernicke-Korsakoff syndrome-meningitis (1), pneumonia (14), urinary tract infections (9), acute abdominal infections (4), sepsis (5) empyema, (1) and infection "of unknown origin" (4). The neuropsychological test results showed significant lower scores on the Cambridge Cognitive Examination nonmemory section with increasing white blood cell counts (Spearman rank correlation, ρ = -0.34; 95% CI: -0.57 to -0.06; 44 patients) and on the "key search test" of the behavioral assessment of the dysexecutive syndrome with increasing absolute neutrophil counts (ρ= -0.85; 95% CI: -0.97 to -0.42; 9 patients). Infections may be the presenting manifestation of thiamine deficiency. Patients with Wernicke-Korsakoff syndrome who suffered from an infection during the acute phase are at risk of worse neuropsychological outcomes on follow-up. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  19. Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

    Directory of Open Access Journals (Sweden)

    Breitling Rainer

    2004-03-01

    Full Text Available Abstract Background Zellweger syndrome (ZS is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is known in considerable detail, it is unclear how peroxisome deficiency leads to the most severe neurological symptoms. Recent analysis of ZS mouse models has all but invalidated previous hypotheses. Hypothesis We suggest that a regulatory rather than a metabolic defect is responsible for the drastic impairment of brain function in ZS patients. Testing the hypothesis Using microarray analysis we identify diazepam binding inhibitor/acyl-CoA binding protein (DBI as a candidate protein that might be involved in the pathogenic mechanism of ZS. DBI has a dual role as a neuropeptide antagonist of GABA(A receptor signaling in the brain and as a regulator of lipid metabolism. Repression of DBI in ZS patients could result in an overactivation of GABAergic signaling, thus eventually leading to the characteristic hypotonia and seizures. The most important argument for a misregulation of GABA(A in ZS is, however, provided by the striking similarity between ZS and "benzodiazepine embryofetopathy", a malformation syndrome observed after the abuse of GABA(A agonists during pregnancy. Implications of the hypothesis We present a tentative mechanistic model of the effect of DBI misregulation on neuronal function that could explain some of the aspects of the pathology of Zellweger syndrome.

  20. Genetic Syndromes Causing Mental Retardation: deficit and surplus in school performance and social adaptability compared to cognitive capacity

    Directory of Open Access Journals (Sweden)

    Vianello, Renzo

    2009-06-01

    Full Text Available In this paper we reported some results of research carried out in Italy with participants with Mental Retardation (better defined as Intellectual Developmental Disability due to genetic syndromes (Down, Fragile-X, Cornelia de Lange and Prader-Willi, evidencing specific conditions characterized by deficit or ‘surplus’ in reading, writing and maths performances, and in social adjustment respect to the intellectual competencies. In some cases the comparison was made also with respect to abilities of memory and language. Results suggested that the cases of ‘surplus’ are in our context more frequent than those found in International literature, and this may be due to the positive effects of the integration in normal classrooms of most pupils with intellectual disabilities. A debate on these issues, comparing diverse cultural and social realities, is welcome.

  1. Mozart at play: the limitations of attributing the etiology of genius to tourette syndrome and mental illness.

    Science.gov (United States)

    Powell, Henry; Kushner, Howard I

    2015-01-01

    There has been a persistent attempt to explain Mozart's talent as connected to physical and mental illness. While Mozart's musical compositions and performances were often acclaimed for their "taste," the composer's personal behavior sometimes astonished those who witnessed "blödeln" or wild horseplay, practical joking, and scatological humor. Most recently, Mozart's eccentric behavior has been attributed to Gilles de la Tourette syndrome. This chapter investigates the evidence for these retrospective diagnoses and reassesses this evidence by paying particular attention to the milieu in which Mozart lived. We argue that Mozart's putative pathological behavior was a manifestation of his resilience in face of multiple adversities and was deeply rooted in his sense of play. Our hypothesis is that play, rather than neuropsychiatric disease, was essential to the operation of his genius. © 2015 Elsevier B.V. All rights reserved.

  2. Replacement therapy for iron deficiency improves exercise capacity and quality of life in patients with cyanotic congenital heart disease and/or the Eisenmenger syndrome.

    Science.gov (United States)

    Tay, Edgar L W; Peset, Ana; Papaphylactou, Maria; Inuzuka, Ryo; Alonso-Gonzalez, Rafael; Giannakoulas, Georgios; Tzifa, Aphrodite; Goletto, Sara; Broberg, Craig; Dimopoulos, Konstantinos; Gatzoulis, Michael A

    2011-09-15

    Iron deficiency is common in cyanotic congenital heart disease (CHD) and results in reduced exercise tolerance. Currently, iron replacement is advocated with limited evidence in cyanotic CHD. We investigated the safety and efficacy of iron replacement therapy in this population. Twenty-five iron-deficient cyanotic CHD patients were prospectively studied between August 2008 and January 2009. Oral ferrous fumarate was titrated to a maximum dose of 200mg thrice-daily. The CAMPHOR QoL questionnaire, 6 minute walk test (6MWT) and cardiopulmonary exercise testing were conducted at baseline and after 3 months of treatment. Mean age was 39.9 ± 10.9 years, 80% females. Fourteen had Eisenmenger syndrome, 6 complex cyanotic disease and 5 Fontan circulation. There were no adverse effects necessitating termination of treatment. After 3 months of treatment, hemoglobin (19.0 ± 2.9 g/dL to 20.4 ± 2.7 g/dL, pCAMPHOR score (20.7 ± 10.9 to 16.2 ± 10.4, p=0.001) and 6MWT distance (371.7 ± 84.7 m to 402.8.0±74.9m, p=0.001). Peak VO(2) remained unchanged (40.7 ± 9.2% to 43.8 ± 12.4% of predicted, p=0.15). Three months of iron replacement therapy in iron-deficient cyanotic CHD patients was safe and resulted in significant improvement in exercise tolerance and quality of life. Identification of iron deficiency and appropriate replacement should be advocated in these patients. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  3. STUDY OF CLINICO- EPIDEMIOLOGICAL PROFILE OF PATIENTS ADMITTED WITH INFANTILE TREMOR SYNDROME (ITS AND STATUS OF TRACE ELEMENTS (ZINC, COPPER DEFICIENCY IN THEM

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-03-01

    Full Text Available BACKGROUND Under nutrition is one of the major problems in the field of Paediatrics. The greatest risk of malnutrition is in the first two years of life. The effects of this early damage on health, brain development, intelligence, educability and productivity are potentially reversible. The current study was an attempt to find out the clinico epidemiological profile, evaluate them for trace elements deficiency and most appropriate management options in those who are admitted with infantile tremor syndrome. MATERIALS AND METHODS The current study was a hospital based cross sectional study that was conducted in the Department of Paediatrics, Dr. S. N. Medical College Jodhpur. Duration of study was One Year. Any child up to the age of three years of age admitted in the paediatric wards with typical features of infantile tremor syndrome. RESULTS Maximum numbers of patients were found between 6 months to 12 months of age, there was slight male predominance. The majority of infants in our study (85% were exclusively breast fed, 66% of cases were having low serum Copper level. 9% of cases were having low serum zinc level. 8% of cases were having low serum copper level with tremors. CONCLUSION In our study the fact that NTS is mainly seen in children who are exclusively breast feed for a longer period with delayed introduction of weaning foods. The main presenting features remain developmental delay, hyper pigmentation and anemia. Among nutritional factors, deficiency of copper and zinc in children plays a big role in development of disease. Thus to prevent the development of nutritional tremor syndrome stress should be on early timely introduction of weaning foods, especially rich in copper and zinc. What is already known about this Study- low levels of trace elements like copper and zinc may be responsible for typical clinical manifestations in patients of infantile tremor syndrome. Pronged and Exclusive breast feeding further aggravate these features

  4. Screening for metabolic syndrome in older patients with severe mental illness

    NARCIS (Netherlands)

    Konz, H.W.; Meesters, P.D.; Paans, N.P.G.; van Grootheest, D.S.; Comijs, H.C.; Stek, M.L.; Dols, A.

    2014-01-01

    Objective To evaluate metabolic screening of elderly patients with severe mental illness (SMI) in terms of newly detected metabolic abnormalities. Methods Prospective evaluation of the metabolic screening outcome data of 100 consecutive elderly outpatients with SMI, all with universal access to

  5. The Fragile X Mental Retardation Syndrome 20 Years After the FMR1 Gene Discovery: an Expanding Universe of Knowledge

    Science.gov (United States)

    Rousseau, François; Labelle, Yves; Bussières, Johanne; Lindsay, Carmen

    2011-01-01

    The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations. PMID:21912443

  6. Mental Illness, Behavior Problems, and Social Behavior in Adults with Down Syndrome

    Science.gov (United States)

    Straccia, Claudio; Baggio, Stéphanie; Barisnikov, Koviljka

    2014-01-01

    Little is known about the behavioral characteristics of adults with Down syndrome (DS) without dementia. The main purpose of this study was to investigate the psychopathology and social behavior among adults with DS compared to adults with nonspecific intellectual disability (NSID). Thirty-four adults with DS were individually matched with 34…

  7. A qualitative exploration of physical, mental and ocular fatigue in patients with primary Sjögren's Syndrome.

    Directory of Open Access Journals (Sweden)

    Rebecca J Stack

    Full Text Available Primary Sjögren's Syndrome (pSS affects exocrine glands such as those producing the tear film, leading to dry and painful eyes, but is also associated with fatigue. The experience of fatigue in pSS, and its relationship with sicca symptoms, is poorly understood.Twenty people diagnosed with pSS were recruited to participate in a semi-structured qualitative interview about their symptoms experience. Interviews were audio-recorded, transcribed verbatim and analysed using thematic analysis.People with pSS described physical tiredness, mental fatigue and ocular fatigue. Mental fatigue was characterised by difficulties in attention, particularly, the ability to follow conversations and short-term memory problems. Participants linked their experience of fatigue to feeling of depression, frustration, irritation and anxiety, and therefore, fatigue was suggested to have had a large impact on their psychological well-being. People with pSS also described a range of ocular symptoms including pain, dryness, and itching, which were compounded by fatigue. For some, eye fatigue was pervasive, and daily activities involving the eyes such as reading, using the computer and driving were impaired. In some cases, the level of ocular discomfort was so severe it prevented sleep, which in turn impacted on general fatigue levels.People with pSS experience fatigue in a range of ways; physical, mental and ocular fatigue were described. Fatigue was suggested to exacerbate other ocular symptoms, posed serious physical limitations and caused psychological distress. Further research into the nature of fatigue and ocular symptoms in pSS is required.

  8. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome

    DEFF Research Database (Denmark)

    Schejbel, Lone; Rosenfeldt, Vibeke; Marquart, Hanne

    2009-01-01

    Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin...

  9. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

    Science.gov (United States)

    Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

    2006-06-15

    We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

  10. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan

    2011-01-01

    In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implicati......In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical...

  11. A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

    Directory of Open Access Journals (Sweden)

    Elena G. Bochukova

    2018-03-01

    Full Text Available Summary: Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS, a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding. Downregulated genes are expressed mainly in neuronal cells and contribute to neurogenesis, neurotransmitter release, and synaptic plasticity, while upregulated, predominantly microglial genes are involved in inflammatory responses. This transcriptional signature may be mediated by reduced brain-derived neurotrophic factor expression. Additionally, we implicate disruption of alternative splicing as a potential molecular mechanism underlying neuronal dysfunction in PWS. Transcriptomic analysis of the human hypothalamus may identify neural mechanisms involved in energy homeostasis and potential therapeutic targets for weight loss. : Prader-Willi syndrome (PWS is a genetic obesity syndrome. Bochukova et al. report gene expression changes in the hypothalamus of people with PWS that support neurodegeneration and neuroinflammation as key processes involved in this condition. Keywords: hypothalamus, Prader-Willi syndrome, BDNF, Agrp, obesity, SNORD116

  12. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis : results of a case-control study

    NARCIS (Netherlands)

    Janssen, HLA; Meinardi, [No Value; Vleggaar, FP; van Uum, SHM; Haagsma, EB; van der Meer, FJM; van Hattum, J; Chamuleau, RAFM; Adang, RP; Vandenbroucke, JP; van Hoek, B; Rosendaal, FR

    2000-01-01

    In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), We compared 43 BCS

  13. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

    NARCIS (Netherlands)

    Janssen, H. L.; Meinardi, J. R.; Vleggaar, F. P.; van Uum, S. H.; Haagsma, E. B.; van der Meer, F. J.; van Hattum, J.; Chamuleau, R. A.; Adang, R. P.; Vandenbroucke, J. P.; van Hoek, B.; Rosendaal, F. R.

    2000-01-01

    In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS

  14. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

    NARCIS (Netherlands)

    H.L.A. Janssen (Harry); J.P. Vandenbroucke (Jan); F.R. Rosendaal (Frits); B. van Hoek (Bart); J.R. Meinardi; F.P. Vleggaar (Frank); S.H. van Uum; E.B. Haagsma (Els); F.J.M. van der Meer (Felix); J. van Hattum (Jan); R.A. Chamuleau; R.P.R. Adang (Rob)

    2000-01-01

    textabstractIn a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein

  15. Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ferlini, A.; Zanetti, A.; Milan, M.; Calzolari, E. [Universita di Ferrara, London (United Kingdom)] [and others

    1995-12-04

    We report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked dominant trait. 24 refs., 6 figs., 1 tab.

  16. Unified-planning, graded-administration, and centralized-controlling: a management modality for treating acquired immune deficiency syndrome with Chinese medicine in Henan Province of China.

    Science.gov (United States)

    Xu, Li-Ran; Guo, Hui-jun; Liu, Zhi-bin; Li, Qiang; Yang, Ji-ping; He, Ying

    2015-04-01

    Henan Province in China has a major epidemic of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Chinese medicine (CM) has been used throughout the last decade, and a management modality was developed, which can be described by unified-planning, graded-administration, and centralized-controlling (UGC). The UGC modality has one primary concept (patient-centered medicine from CM theory), four basic foundations (classifying administrative region, characteristics of CM on disease treatment, health resource conditions, and distribution of patients living with HIV), six important relationships (the "three uniformities and three combinations," and the six relationships therein guide the treatment of AIDS with CM), and four key sections (management, operation, records, and evaluation). In this article, the authors introduce the UGC modality, which could be beneficial to developing countries or resource-limited areas for the management of chronic infectious disease.

  17. Iron Deficiency Is a Determinant of Functional Capacity and Health-related Quality of Life 30 Days After an Acute Coronary Syndrome.

    Science.gov (United States)

    Meroño, Oona; Cladellas, Mercè; Ribas-Barquet, Núria; Poveda, Paula; Recasens, Lluis; Bazán, Víctor; García-García, Cosme; Ivern, Consol; Enjuanes, Cristina; Orient, Salvador; Vila, Joan; Comín-Colet, Josep

    2017-05-01

    Iron deficiency (ID) is a prevalent condition in patients with ischemic heart disease and heart failure. Little is known about the impact of ID on exercise capacity and quality of life (QoL) in the recovery phase after an acute coronary syndrome (ACS). Iron status and its impact on exercise capacity and QoL were prospectively evaluated in 244 patients 30 days after the ACS. QoL was assessed by the standard EuroQoL-5 dimensions, EuroQoL visual analogue scale, and Heart-QoL questionnaires. Exercise capacity was analyzed by treadmill/6-minute walk tests. The effect of ID on cardiovascular mortality and readmission rate was also investigated. A total of 46% of the patients had ID. These patients had lower exercise times (366±162 vs 462±155seconds; Pde Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  18. Impact of Diet-Induced Obesity and Testosterone Deficiency on the Cardiovascular System: A Novel Rodent Model Representative of Males with Testosterone-Deficient Metabolic Syndrome (TDMetS).

    Science.gov (United States)

    Donner, Daniel G; Elliott, Grace E; Beck, Belinda R; Bulmer, Andrew C; Du Toit, Eugene F

    2015-01-01

    Current models of obesity utilise normogonadic animals and neglect the strong relationships between obesity-associated metabolic syndrome (MetS) and male testosterone deficiency (TD). The joint presentation of these conditions has complex implications for the cardiovascular system that are not well understood. We have characterised and investigated three models in male rats: one of diet-induced obesity with the MetS; a second using orchiectomised rats mimicking TD; and a third combining MetS with TD which we propose is representative of males with testosterone deficiency and the metabolic syndrome (TDMetS). Male Wistar rats (n = 24) were randomly assigned to two groups and provided ad libitum access to normal rat chow (CTRL) or a high fat/high sugar/low protein "obesogenic" diet (OGD) for 28 weeks (n = 12/group). These groups were further sub-divided into sham-operated or orchiectomised (ORX) animals to mimic hypogonadism, with and without diet-induced obesity (n = 6/group). Serum lipids, glucose, insulin and sex hormone concentrations were determined. Body composition, cardiovascular structure and function; and myocardial tolerance to ischemia-reperfusion were assessed. OGD-fed animals had 72% greater fat mass; 2.4-fold greater serum cholesterol; 2.3-fold greater serum triglycerides and 3-fold greater fasting glucose (indicative of diabetes mellitus) compared to CTRLs (all ptestosterone and left ventricle mass (p<0.05). In addition to the combined differences observed in each of the isolated models, the OGD, ORX and OGD+ORX models each had greater CK-MB levels following in vivo cardiac ischemia-reperfusion insult compared to CTRLs (p<0.05). Our findings provide evidence to support that the MetS and TD independently impair myocardial tolerance to ischemia-reperfusion. The combined OGD+ORX phenotype described in this study is a novel animal model with associated cardiovascular risk factors and complex myocardial pathology which may be representative of male patients

  19. Vitamin B1-deficient mice show impairment of hippocampus-dependent memory formation and loss of hippocampal neurons and dendritic spines: potential microendophenotypes of Wernicke-Korsakoff syndrome.

    Science.gov (United States)

    Inaba, Hiroyoshi; Kishimoto, Takuya; Oishi, Satoru; Nagata, Kan; Hasegawa, Shunsuke; Watanabe, Tamae; Kida, Satoshi

    2016-12-01

    Patients with severe Wernicke-Korsakoff syndrome (WKS) associated with vitamin B1 (thiamine) deficiency (TD) show enduring impairment of memory formation. The mechanisms of memory impairment induced by TD remain unknown. Here, we show that hippocampal degeneration is a potential microendophenotype (an endophenotype of brain disease at the cellular and synaptic levels) of WKS in pyrithiamine-induced thiamine deficiency (PTD) mice, a rodent model of WKS. PTD mice show deficits in the hippocampus-dependent memory formation, although they show normal hippocampus-independent memory. Similarly with WKS, impairments in memory formation did not recover even at 6 months after treatment with PTD. Importantly, PTD mice exhibit a decrease in neurons in the CA1, CA3, and dentate gyrus (DG) regions of the hippocampus and reduced density of wide dendritic spines in the DG. Our findings suggest that TD induces hippocampal degeneration, including the loss of neurons and spines, thereby leading to enduring impairment of hippocampus-dependent memory formation.

  20. Blast cell deficiency of CD11a as a marker of acute megakaryoblastic leukemia and transient myeloproliferative disease in children with and without Down syndrome.

    Science.gov (United States)

    Boztug, Heidrun; Schumich, Angela; Pötschger, Ulrike; Mühlegger, Nora; Kolenova, Alexandra; Reinhardt, Katarina; Dworzak, Michael

    2013-01-01

    The classification of acute myeloid leukemia (AML) FAB subtype M7 relies on immunophenotypic assessment. CD41 is expressed throughout all stages of maturation of megakaryocytes and has therefore been described as a specific blast cell marker in AML M7 as well as in transient myeloproliferative disease (TMD) of patients with Down syndrome (DS). However, technical difficulties underlie the need for new markers for these entities. We evaluated the expression of human lymphocyte function-associated antigen 1 (CD11a) in a large cohort of pediatric AML and TMD patients (n = 91) of the Austrian AML-BFM 98 and 2004 studies. We found a consistent deficiency of CD11a as assessed by mean fluorescence intensity in all patients with non-DS AML M7 (n = 8) and M6 (n = 1), all cases of classical DS-AML (n = 12) as well as TMD (n = 15) that was statistically significant in comparison to non-DS AML M0-M5 patients (n = 55; P leukemias (M4/5) and normal monocytes typically showed a high CD11a expression, FAB types M1/2 and normal neutrophils an intermediate expression level, while all M3 leukemias were rather low in CD11a expression. We conclude, that deficiency of CD11a expression should be added to the diagnostic criteria of AML-M7, classical DS-AML and TMD. Copyright © 2013 International Clinical Cytometry Society.

  1. RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome

    International Nuclear Information System (INIS)

    Werner, Sean R.; Prahalad, Agasanur K.; Yang Jieping; Hock, Janet M.

    2006-01-01

    Rothmund-Thomson syndrome (RTS) is a heterogeneous disease, associated with increased prevalence of osteosarcoma in very young patients with a mutated RECQL4 gene. In this study, we tested the ability of RECQL4 deficient fibroblasts, derived from a RTS patient to recover from hydrogen peroxide (H 2 O 2 )-induced oxidative stress/damage. Immunoperoxidase staining for 8-oxo-deoxyguanosine (8-oxo-dG) formation in RTS and normal human fibroblasts were compared to assess DNA damage. We determined DNA synthesis, cell growth, cell cycle distribution, and viability in RTS and normal human fibroblasts before and after H 2 O 2 treatment. H 2 O 2 induces 8-oxo-dG formation in both RTS and normal fibroblasts. In normal human fibroblasts, RECQL4 was predominantly localized to cytoplasm; nuclear translocation and foci formation occurred in response to oxidant stimulation. After recovery from oxidant exposure, viable RTS fibroblasts showed irreversible growth arrest compared to normal fibroblasts. DNA synthesis decreased significantly in treated RTS cells, with concomitant reduction of cells in the S-phase. These results suggest that enhanced oxidant sensitivity in RECQL4 deficient fibroblasts derived from RTS patients could be attributed to abnormal DNA metabolism and proliferation failure. The ramifications of these findings on osteosarcoma prevalence and heterogeneity in RTS are discussed

  2. Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction?

    Science.gov (United States)

    Verma, Anupam; Hemlata; Elhence, Priti; Phadke, Shubha R; Neyaz, Zafar

    2018-02-01

    Adverse neurological transfusion reactions including posterior reversible encephalopathy syndrome (PRES) following blood transfusion are rare. Our case an 18-year-female with known Factor X deficiency with menorrhagia developed severe hypertension, followed by generalised tonic clonic convulsions apparently after blood component transfusion. She had earlier received 4 units of red blood cells (RBC) for anaemia and 10 units of fresh frozen plasma (FFP) for menorrhagia (with prolonged PT and APTT) within short span of time at another hospital. There was no history of hypertension, convulsions, any cardiovascular, renal or neurological disease before transfusion. The clinical features and magnetic resonance imaging findings led to the diagnosis of PRES. Abnormal electroencephalogram and a hypercoagulable haemostatic profile on thromboelastography along with derangement in blood glucose and liver function tests were also observed. Patient responded well to the anticonvulsants and antihypertensive agents prescribed and was discharged in a stable condition. Our patient had a systemic transfusion reaction involving predominantly neurological system, however, cardiovascular, hepatic, haemostatic and endocrine systems were also affected. This case is unusual being the first report of PRES occurring in a patient with factor X deficiency presenting with an array of clinical and laboratory features which have not been reported in earlier studies involving PRES. Presumably the initial aggressive red cell transfusion to treat anaemia initiated the crisis and further large volumes of transfused FFP contributed to this adverse transfusion reaction in our case. Clinicians and Transfusion Medicine specialists should be aware about this uncommon clinical entity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Histopathological comparison of Kearns-Sayre syndrome and PGC-1α-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy

    Directory of Open Access Journals (Sweden)

    Levente Szalardy

    2016-03-01

    Full Text Available Despite the current hypotheses about myelinic and astrocytic ion-dyshomeostasis underlying white (WM and grey matter (GM vacuolation in mitochondrial encephalopathies, there is a paucity of data on the exact mechanism of vacuole formation. To revisit the concepts of vacuole formation associated with mitochondrial dysfunction, we performed a comparative neuropathological analysis in Kearns-Sayre syndrome (KSS and full-length peroxisome proliferator-activated receptor-g coactivator-1a (FL-PGC-1a-deficient mice, a recently proposed morphological model of mitochondrial encephalopathies. Brain tissues from an individual with genetically proven KSS (22-year-old man and aged FL-PGC-1a-deficient and wild-type (male, 70-75-week-old mice were analysed using ultrastructural and immunohistochemical methods, with a specific focus on myelin-related, oligodendroglial, axonal and astrocytic pathologies. Besides demonstrating remarkable similarities in the lesion profile of KSS and FL-PGC-1a-deficient mice, this study first provides morphological evidence for the identical origin of WM and GM vacuolation as well as for the presence of intracytoplasmic oligodendroglial vacuoles in mitochondriopathies. Based on these observations, the paper proposes a theoretical model for the development of focal myelin vacuolation as opposed to the original concepts of intramyelin oedema. Placing oligodendrocytes in the centre of tissue lesioning in conditions related to defects in mitochondria, our observations support the rationale for cytoprotective targeting of oligodendrocytes in mitochondrial encephalopathies, and may also have implications in brain aging and multiple sclerosis, as discussed.

  4. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey

    Science.gov (United States)

    Chandesris, Marie-Olivia; Melki, Isabelle; Natividad, Angels; Puel, Anne; Fieschi, Claire; Yun, Ling; Thumerelle, Caroline; Oksenhendler, Eric; Boutboul, David; Thomas, Caroline; Hoarau, Cyrille; Lebranchu, Yvon; Stephan, Jean-Louis; Cazorla, Celine; Aladjidi, Nathalie; Micheau, Marguerite; Tron, Fran[cedil]cois; Baruchel, Andre; Barlogis, Vincent; Palenzuela, Gilles; Mathey, Catherine; Dominique, Stephane; Body, Gerard; Munzer, Martine; Fouyssac, Fanny; Jaussaud, Rolland; Bader-Meunier, Brigitte; Mahlaoui, Nizar; Blanche, Stephane; Debre, Marianne; Le Bourgeois, Muriel; Gandemer, Virginie; Lambert, Nathalie; Grandin, Virginie; Ndaga, Stephanie; Jacques, Corinne; Harre, Chantal; Forveille, Monique; Alyanakian, Marie-Alexandra; Durandy, Anne; Bodemer, Christine; Suarez, Felipe; Hermine, Olivier; Lortholary, Olivier; Casanova, Jean-Laurent; Fischer, Alain; Picard, Capucine

    2013-01-01

    Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3. Low levels of interleukin (IL)-6-dependent phosphorylation and nuclear translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B lymphocytes (EBV-B cells) from all STAT3-deficient patients tested. The immunologic phenotype was characterized by high serum IgE levels (96% of the patients), memory B-cell lymphopenia (94.5%), and hypereosinophilia (80%). A low proportion of IL-17A-producing circulating T cells was found in 14 of the 15 patients tested. Mucocutaneous infections were the most frequent, typically caused by Staphylococcus aureus (all patients) and Candida albicans (85%). Up to 90% of the patients had pneumonia, mostly caused by Staph. aureus (31%) or Streptococcus pneumoniae (30%). Recurrent pneumonia was associated with secondary bronchiectasis and pneumatocele (67%), as well as secondary aspergillosis (22%). Up to 92% of the patients had dermatitis and connective tissue abnormalities, with facial dysmorphism (95%), retention of decidual teeth (65%), osteopenia (50%), and hyperextensibility (50%). Four patients developed non-Hodgkin lymphoma. The clinical outcome was favorable, with 56 patients, including 43 adults, still alive at the end of study (mean age, 21 yr; range, 1 mo to 46 yr). Only 4 patients died, 3 from severe bacterial infection (aged 1, 15, and 29 yr, respectively). Antibiotic prophylaxis (90% of patients), antifungal prophylaxis (50%), and IgG infusions (53%) improved patient health, as demonstrated by the large decrease in pneumonia recurrence. Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic

  5. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

    Science.gov (United States)

    Callier, P; Faivre, L; Marle, N; Thauvin-Robinet, C; Mosca, A L; Masurel-Paulet, A; Borgnon, J; Falcon-Eicher, S; Danino, A; Malka, G; Le Merrer, M; Huet, F; Mugneret, F

    2007-01-01

    We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31 interstitial deletion. He was the only child of non-consanguineous parents and his birth length was 43cm. He had severe feeding difficulties and required enteral nutrition until the age of 3 years. Standard cytogenetic analysis showed an apparently balanced de novo translocation t(1;12)(q24;q24). Endocrine studies at 11 years of age for severe growth retardation revealed multiple pituitary hormone deficiency with severe growth hormone deficiency, but the child was untreated because of associated mental retardation. At 26 years of age, he could not walk or speak and had no signs of puberty. Investigations revealed spondylo-epi-metaphyseal dysplasia with severe osteoporosis, enlarged aorta when compared to the patient's size and apparently normal pituitary development. High resolution karyotype showed a 1q24-q25 deletion, and comparative genomic hybridization studies confirmed the 1q interstitial deletion. FISH studies of both breakpoints using PACs and BACs enabled us to further characterize the 1q interstitial deletion (1q24.2-1q25.2) and also revealed a 12q24.31 interstitial microdeletion. This case is compared with previously reported patients with similar deletions, but the untreated pituitary deficiency could also be responsible in part for the severity of the growth deficiency. This observation is of interest for two reasons. First, these deletions could be a clue in the search for a gene responsible for growth hormone deficiency/midline defects. Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype.

  6. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

    OpenAIRE

    Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

    1997-01-01

    We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

  7. Temozolomide Increases the Number of Mismatch Repair - Deficient Intestinal Crypts and Accelerates Tumorigenesis in a Mouse Model of Lynch Syndrome

    NARCIS (Netherlands)

    Wojciechowicz, K.; Cantelli, E.; Van Gerwen, B.; Plug, M.; van der Wal, A.; Delzenne-Goette, E.; Song, J.Y.; de Vries, S.; Dekker, M.; te Riele, H.

    2014-01-01

    Background & Aims Lynch syndrome, a nonpolyposis form of hereditary colorectal cancer, is caused by inherited defects in DNA mismatch repair (MMR) genes. Most patients carry a germline mutation in 1 allele of the MMR genes MSH2 or MLH1. With spontaneous loss of the wild-type allele, cells with

  8. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

    NARCIS (Netherlands)

    Wijburg, F. A.; Barth, P. G.; Bindoff, L. A.; Birch-Machin, M. A.; van der Blij, J. F.; Ruitenbeek, W.; TURNBULL, D. M.; Schutgens, R. B.

    1992-01-01

    A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the

  9. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

    Science.gov (United States)

    Alaimo, Joseph T; Barton, Laura V; Mullegama, Sureni V; Wills, Rachel D; Foster, Rebecca H; Elsea, Sarah H

    2015-12-01

    Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability. Next, we categorized food behaviors in our SMS cohort across age using the Food Related Problems Questionnaire (FRPQ) and found that problems began to occur in SMS children as early as 5-11 years old, but children 12-18 years old and adults manifested the most severe problems. Furthermore, we evaluated the similarities of SMS adult food-related behaviors to those with intellectual disability and found that SMS adults had more severe behavioral problems. Many neurodevelopmental disorders exhibit syndromic obesity including SMS. Prader-Willi syndrome (PWS) is the most frequent neurodevelopmental disorder with syndromic obesity and has a well-established management and treatment plan. Using the FRPQ we found that SMS adults had similar scores relative to PWS adults. Both syndromes manifest weight gain early in development, and the FRPQ scores highlight specific areas in which behavioral similarities exist, including preoccupation with food, impaired satiety, and negative behavioral responses. SMS food-related behavior treatment paradigms are not as refined as PWS, suggesting that current PWS treatments for prevention of obesity may be beneficial for individuals with SMS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation.

    Science.gov (United States)

    Kosztolányi, G; Weisenbach, J; Méhes, K

    1995-09-11

    We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme under-development of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded.

  11. Selective compartmental dominance: an explanation for a noninfectious, multifactorial etiology for acquired immune deficiency syndrome (AIDS), and a rationale for ozone therapy and other immune modulating therapies.

    Science.gov (United States)

    Shallenberger, F

    1998-01-01

    The most widely accepted etiological explanation for acquired immune deficiency syndrome (AIDS) currently invokes an infectious model involving the human immunodeficiency virus (HIV). Because this infectious model has failed to meet any conventional criteria for establishing microbial causation, this theory still relies on the high, though not perfect, statistical correlation linking presence of HIV antibodies with patients diagnosed with, and at risk for the syndrome. Many scientists and clinicians now doubt the HIV theory, though, and propose instead a multifactorial causation similar to that seen in cancer and heart disease. In order to discard the HIV model, however, it is necessary to explain the high statistical correlation mentioned above. Recent studies involving cellular mediated immunity and cytokine modulation may explain this statistical relationship without the need to invoke infectious causation, by suggesting certain functional characteristics and feedback loops in the immune system which the author calls selective compartmental dominance (SCD). SCD provides a model in which chronic dominance of the humoral immune compartment secondary to chronic high-dose antigenic challenge results in chronic suppression of the cellular immune compartment. This model predicts that even HIV-negative members of the risk groups are susceptible to AIDS, assigns no special causal role for HIV in AIDS, and suggests a rational course of nontoxic therapy that can potentially reverse cases in the earlier stages.

  12. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome.

    Science.gov (United States)

    Festen, D A M; Wevers, M; Lindgren, A C; Böhm, B; Otten, B J; Wit, J M; Duivenvoorden, H J; Hokken-Koelega, A C S

    2008-06-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, feeding difficulties and failure to thrive in infancy. GH treatment improves growth velocity and body composition. Research on the effects of GH on psychomotor development in infants with PWS is limited. To evaluate psychomotor development in PWS infants and toddlers during GH treatment compared to randomized controls. Forty-three PWS infants were evaluated at baseline. Twenty-nine of them were randomized into a GH group (n = 15) receiving 1 mg/m(2)/day GH or a non-GH-treated control group (n = 14). At baseline and after 12 months of follow-up, analysis with Bayley Scales of Infant Development II (BSID-II) was performed. Data were converted to percentage of expected development for age (%ed), and changes during follow-up were calculated. Infants in the GH group had a median age of 2.3 years [interquartile range (IQR) 1.7-3.0] and in the control group of 1.5 years (IQR 1.2-2.7) (P = 0.17). Both mental and motor development improved significantly during the first year of study in the GH group vs. the control group: median (IQR) change was +9.3% (-5.3 to 13.3) vs.-2.9% (-8.1 to 4.9) (P development and +11.2% (-4.9 to 22.5) vs.-18.5% (-27.9 to 1.8) (P development, respectively. One year of GH treatment significantly improved mental and motor development in PWS infants compared to randomized controls.

  13. The effects of optimism and gratitude on adherence, functioning and mental health following an acute coronary syndrome.

    Science.gov (United States)

    Millstein, Rachel A; Celano, Christopher M; Beale, Eleanor E; Beach, Scott R; Suarez, Laura; Belcher, Arianna M; Januzzi, James L; Huffman, Jeff C

    This study examined the effects of optimism and gratitude on self-reported health behavior adherence, physical functioning and emotional well-being after an acute coronary syndrome (ACS). Among 156 patients, we examined associations between optimism and gratitude measured 2 weeks post-ACS and 6-month outcomes: adherence to medical recommendations, mental and physical health-related quality of life (HRQoL), physical functioning, depressive symptoms and anxiety. Multivariable linear regression models were used, controlling for increasing levels of adjustment. Optimism [β=.11, standard error (S.E.)=.05, P=.038] and gratitude (β=.10, S.E.=.05, P=.027) at 2 weeks were associated with subsequent self-reported adherence to medical recommendations (diet, exercise, medication adherence, stress reduction) at 6 months in fully adjusted models. Two-week optimism and gratitude were associated with improvements in mental HRQoL (optimism: β=.44, S.E.=.13, P=.001; gratitude: β=.33, S.E.=.12, P=.005) and reductions in symptoms of depression (optimism: β=-.11, S.E.=.05, P=.039; gratitude: β=-.10, S.E.=.05, P=.028) and anxiety (optimism: β=-.15, S.E.=.05, P=.004; gratitude: β=-.10, S.E.=.05, P=.034) at 6 months. Optimism and gratitude at 2 weeks post-ACS were associated with higher self-reported adherence and improved emotional well-being 6 months later, independent of negative emotional states. Optimism and gratitude may help recovery from an ACS. Interventions promoting these positive constructs could help improve adherence and well-being. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

    Science.gov (United States)

    Huang, C; Yang, Y-F; Zhang, H; Xie, L; Chen, J-L; Wang, J; Tan, Z-P; Luo, H

    2012-08-13

    Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance). High-resolution genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in chromosome region 17p11.2. This chromosome region contains RAI1, a critical gene involved in SMS. To the best of our knowledge, this is the first report of an SMS patient in mainland China.

  15. CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

    Directory of Open Access Journals (Sweden)

    Jacqueline M Ogier

    Full Text Available CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7. Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.

  16. A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome

    NARCIS (Netherlands)

    van den Brink, D. M.; van Miert, J. M.; Wanders, R. J. A.

    2005-01-01

    Sjögren-Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia. The biochemical defect has been identified as a deficiency of fatty aldehyde dehydrogenase (FALDH), which is part of an enzyme complex that converts fatty

  17. High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

    DEFF Research Database (Denmark)

    DelParigi, Angelo; Tschöp, Matthias; Heiman, Mark L

    2002-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1 of 10,000-16,000 live births and is characterized by excessive appetite with progressive massive obesity as well as short stature and mental retardation. Most patients have GH deficiency and hypogonadotropic hypogonadism. The causes...

  18. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    Science.gov (United States)

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  19. Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency.

    Science.gov (United States)

    Austin, Devon E; Gunn, Alistair J; Jefferies, Craig A

    2015-02-01

    Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50 000 births, with marked pre- and postnatal growth failure. WHS results from the hemizygous deletion encompassing the 4p16.3 region. This report of two children with WHS shows that growth hormone treatment in selected children with WHS and severe short stature may have a substantial effect on long-term growth.

  20. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Starnawska, A; Hansen, C S; Sparsø, T; Mazin, W; Olsen, L; Bertalan, M; Buil, A; Bybjerg-Grauholm, J; Bækvad-Hansen, M; Hougaard, D M; Mortensen, P B; Pedersen, C B; Nyegaard, M; Werge, T; Weinsheimer, S

    2017-08-29

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous deletion, there remains a large variation in the development and progression of psychiatric disorders, which suggests that alternative factors contribute to the pathogenesis. In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate with mental disorder later in life. DNA methylation was measured genome-wide from neonatal dried blood spots in a cohort of 164 individuals with 22q11.2DS, including 48 individuals diagnosed with a psychiatric disorder. Among several CpG sites with P-value<10 -6 , we identified cg23546855 (P-value=2.15 × 10 -7 ) mapping to STK32C to be associated with a later psychiatric diagnosis. Pathway analysis of the top findings resulted in the identification of several Gene Ontology pathways to be significantly enriched (P-value<0.05 after Benjamini-Hochberg correction); among them are the following: neurogenesis, neuron development, neuron projection development, astrocyte development, axonogenesis and axon guidance. In addition, we identified differentially methylated CpG sites in LRP2BP (P-value=5.37 × 10 -8 ) to be associated with intellectual disability (F70-79), in TOP1 (P-value=1.86 × 10 -7 ) with behavioral disorders (F90-98), in NOSIP (P-value=5.12 × 10 -8 ) with disorders of psychological development (F80-89) and in SEMA4B (P-value=4.02 × 10 -7 ) with schizophrenia spectrum disorders (F20-29). In conclusion, our study suggests an association of DNA methylation differences at birth with development of mental disorder later in life in 22q11.2DS individuals.

  1. Síndrome de Cornelia de Lange Cornelia de Lange syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1972-12-01

    Full Text Available É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades esqueléticas e dermatoglíficas. O cariotipo é normal.A case of Cornelia de Lange syndrome is reported. The clinical picture included mental retardation, hirsutism, synophris, skeletal abnormalities and changes in the epidermal ridge patterns. Normal karyotype.

  2. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4

    Energy Technology Data Exchange (ETDEWEB)

    Fryns, J.P. [Univ. of Leuven (Belgium); Schrander-Stumpel, C. [Univ. Hospital Maastricht (Netherlands)

    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.

  3. Metabolic Syndrome in South African Patients with Severe Mental Illness: Prevalence and Associated Risk Factors.

    Directory of Open Access Journals (Sweden)

    Shamima Saloojee

    Full Text Available There is a surge of cardiovascular disease (CVD in Africa. CVD is the leading cause of mortality among patients with severe mental illness (SMI in developed countries, with little evidence from the African context.To determine the prevalence and risk factors for MetS among South African patients with SMI.In a cross sectional study, individuals with SMI treated with antipsychotics and a control group without a mental illness, matched for age, gender and ethnicity were evaluated for MetS using the 2009 Joint Interim statement (JIS criteria.Of the 276 study group subjects, 65.9% were male, 84.1% black African, 9.1% white, 5.4% of Indian descent and 1.5% coloured (mixed race with a mean age of 34.7 years (±12.5. Schizophrenia was the most common diagnosis (73.2% and 40% were taking first generation antipsychotics. The prevalence of MetS was 23.2% (M: 15.4%, F: 38.3% in the study group and 19.9% (M: 11.9%, F: 36.3% in the control group (p = 0.4. MetS prevalence was significantly higher in study subjects over 55 years compared to controls (p = 0.03. Increased waist circumference (p< 0.001 and low high density lipoprotein (HDL cholesterol (p = 0.003 were significantly more prevalent in study subjects compared to controls. In study subjects, risk factors associated with MetS included age (OR: 1.09, 95% CI 1.06-1.12, p < 0.001, female gender (OR: 2.19, 95% CI 1.06-4.55, p = 0.035 and Indian descent (OR: 5.84, 95% CI 1.66-20.52, p = 0.006 but not class of antipsychotic (p = 0.26.The overall MetS prevalence was not increased in patients with SMI compared to controls; however, the higher prevalence of the individual components (HDL cholesterol and waist circumference suggests an increased risk for CVD, especially in patients over 55 years.

  4. Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

    OpenAIRE

    Bingeliene, Arina; Shapiro, Colin M.; Chung, Sharon A.

    2015-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish po...

  5. Polycystic ovary syndrome and mental disorders: a systematic review and exploratory meta-analysis

    Directory of Open Access Journals (Sweden)

    Blay SL

    2016-11-01

    Full Text Available Sergio Luís Blay,1 João Vicente Augusto Aguiar,2 Ives Cavalcante Passos3 1Department of Psychiatry, Federal University of São Paulo (Escola Paulista de Medicina – UNIFESP, São Paulo, SP, Brazil; 2Department of Psychiatry, Fortaleza University, Fortaleza, Ceará, Brazil; 3Laboratory of Molecular Psychiatry and Department of Psychiatry, Federal University of Rio Grande do Sul, Rio Grande do Sul, Brazil Background: The association between depression, anxiety, and polycystic ovary syndrome (PCOS is still unclear. Therefore, a systematic review and meta-analysis was conducted to assess the rates of comorbid psychiatric disorders among women with PCOS compared to women without it. Methods: PubMed/MEDLINE, Embase, PsycINFO, and Web of Science databases were searched from inception to November 27, 2015. Studies were eligible for inclusion if they were original reports in which the rates of mood (bipolar disorder, dysthymia, or major depressive disorder, obsessive–compulsive spectrum disorders, trauma- and stressor-related disorders, anxiety disorders or psychotic disorders, somatic symptom and related disorders, or eating disorders had been investigated among women with an established diagnosis of PCOS and compared with women without PCOS. Psychiatric diagnosis should have been established by means of a structured diagnostic interview or through a validated screening tool. Data were extracted and pooled using random effects models. Results: Six studies were included in the meta-analysis; of these, five reported the rates of anxiety and six provided data on the rates of depression. The rate of subjects with anxiety symptoms was higher in patients with PCOS compared to women without PCOS (odds ratio (OR =2.76; 95% confidence interval (CI 1.26 to 6.02; Log OR =1.013; P=0.011. The rate of subjects with depressive symptoms was higher in patients with PCOS compared to women without PCOS (OR =3.51; 95% CI 1.97 to 6.24; Log OR =1.255; P<0

  6. An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease.

    Science.gov (United States)

    De Dios, Jose Angelo A; Javaid, Adnan A; Ballesteros, Enrique; Metersky, Mark L

    2012-01-01

    Granulomatous lymphocytic interstitial lung disease, or GLILD, is an uncommon condition associated with common variable immunodeficiency (CVID). We present an interesting case of an 18-year-old woman with Kabuki syndrome and CVID who was seen in our clinic for an abnormal chest CT scan. She was subsequently diagnosed with GLILD. There are no established guidelines for the treatment of GLILD in CVID. Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease. Patients with CVID and GLILD are at increased risk for malignancy and their prognosis is worse compared to patients with CVID without GLILD.

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... develop restless legs syndrome (RLS). RLS is a disorder that causes a strong urge to move the legs. This ... may be a sign of infection, a blood disorder, or another ... may be a clue as to the cause of your anemia. In iron-deficiency anemia, for ...

  8. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

    Science.gov (United States)

    van Dijk, Fleur S; Mancini, Grazia M S; Maugeri, Alessandra; Cobben, Jan M

    2017-10-01

    We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy. Using the past criteria for kEDS there was considerable overlap with the clinical diagnostic criteria for EDS classical type. In the patients reported here without (kypho) scoliosis this has delayed the diagnosis, which is unfortunate as the diagnosis of kEDS-PLOD1 results in a different recurrence risk and has management consequences. Interestingly, the new criteria for kEDS would not have prevented this diagnostic delay as congenital or early onset kyphoscoliosis (progressive or non-progressive) is deemed obligatory for the diagnosis of kEDS. Being aware of the limitations of clinical diagnostic criteria, we recommend that (i) in patients without a positive family history nor identified COL5A1/2 mutations, lysyl hydroxylase deficiency or biallelic PLOD1 mutations should be excluded before the diagnosis classical EDS can be made and (ii) PLOD1 and COL5A1/2 should be included in the same Next Generation Sequencing (NGS) gene panel. Copyright © 2017. Published by Elsevier Masson SAS.

  9. Acertando o passo! Falar de deficiência mental é um erro: deve falar-se de dificuldade intelectual e desenvolvimental (DID. Por quê? The term "mental retardation" is a mistake: why not "Intellectual and Developmental Disability": conceptual and Portuguese linguistic considerations?

    Directory of Open Access Journals (Sweden)

    Sofia Santos

    2012-03-01

    Full Text Available A nova concepção e terminologia adotada pela língua inglesa no contexto da ainda designada "deficiência mental" parece ter alcançado um consenso estável e satisfatório face às expectativas que a sociedade deve esperar das populações com esse diagnóstico, enfatizando agora o impacto que as exigências do envolvimento detém no desenvolvimento individual, reforçando-se, assim, a necessidade emergente da alteração de mentalidades e atitudes para com estas populações. Para este efeito, o presente artigo introduz uma nova proposta de alteração da terminologia em português de deficiência mental/intelectual para "dificuldade intelectual e desenvolvimental", explicitando e fundamentando as razões para a mesma.The new conception and terminology of "intellectual disability" adopted in the English language referring to what was known earlier as "mental retardation" seems to have achieved a satisfactory and stable consensus regarding society expectations for those groups to which this diagnosis refers. Currently, the focus is on the environmental impact on human functioning and development, which will reinforce the emergent need for altering attitudes towards such groups. To this end, this article defends a new proposal changing the Portuguese term from mental retardation to intellectual and developmental disability, establishing the term's meaning and boundaries.

  10. Deficiency in Mental Rotation of Upper and Lower-Limbs in Patients With Multiple Sclerosis and Its Relation With Cognitive Functions.

    Science.gov (United States)

    Azin, Mahdieh; Zangiabadi, Nasser; Moghadas Tabrizi, Yousef; Iranmanesh, Farhad; Baneshi, Mohammad Reza

    2016-08-01

    Mental rotation is a cognitive motor process which was impaired in different neurologic disorders. We investigated whether there were deficits in response pattern, reaction time and response accuracy rate of mental rotation in multiple sclerosis (MS) patients compared to healthy subjects and whether cognitive dysfunctions in MS patients were correlated with mental rotation deficits. Moreover, we showed whether there was a difference between upper and lower-limbs mental rotation in MS patients. Thirty-five MS patients and 25 healthy subjects performed hand mental rotation (HMR) and foot mental rotation (FMR) tasks. Visual information processing speed, spatial learning and memory ability, and visuospatial processing were assessed by Symbol Digit Modalities Test (SDMT), Brief Visuospatial Memory Test-Revised (BVMT-R), and Judgment of Line Orientation Test (JLO) respectively in MS patients. Reaction time for both hand and foot stimuli increased, and response accuracy rate for hand stimuli decreased in MS patients compared to healthy subjects, but response pattern of mental rotation in MS patients persisted. Similar to healthy subjects, MS patients performed upper-limbs mental rotation more easily than a lower-limbs mental rotation with more speed and response accuracy rate. Reaction time and response accuracy rate were correlated with the mentioned cognitive functions. MS patients made use of the correct response pattern for problem solving of increasing orientation from upright stimuli. Reaction time and response accuracy rate altered in these patients and this alteration might occur along with impairment in motor planning. Subjects' better responding to hand stimuli was due to more familiarity with hand stimuli. The correlation of mental rotation ability with cognitive functions indicates the possible role of cognitive functions in mental rotation.

  11. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

    Science.gov (United States)

    Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita

    2002-03-15

    Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al. [1998: J Med Genet 35: 617-623] is specific for ZFHX1B mutations. In order to address these open questions we analyzed the ZFHX1B gene in five patients, three of whom had "syndromic Hirschsprung disease" two with and one without the facial phenotype described by Mowat et al. [1998], and two of whom had the distinct facial gestalt without Hirschsprung disease. Analyses of microsatellite markers and newly identified SNPs, and/or FISH with BACs from the ZFHX1B region excluded large deletions in all five patients. Direct sequencing demonstrated truncating ZFHX1B mutations in all four patients with the characteristic facial phenotype, but not in the patient with syndromic Hirschsprung disease without the distinct facial appearance. We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."

  12. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

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    Thierry Olivry

    Full Text Available In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

  13. Increased Serum PAI-1 Levels in Subjects with Metabolic Syndrome and Long-Term Adverse Mental Symptoms: A Population-Based Study

    Directory of Open Access Journals (Sweden)

    Anne Huotari

    2010-01-01

    Full Text Available Depression is an independent risk factor for cardiovascular diseases and is associated with metabolic syndrome (MetS. Levels of plasminogen activator inhibitor-1 (PAI-1, an inhibitor of tissue-type and urokinase-type plasminogen activators, are associated with MetS. To clarify the role of PAI-1 in subjects with long-term adverse mental symptomatology (LMS; including depression and MetS, we measured circulating PAI-1 levels in controls (n=111, in subjects with MetS and free of mental symptoms (n=42, and in subjects with both MetS and long-term mental symptoms (n=70. PAI-1 increased linearly across the three groups in men. In logistic regression analysis, men with PAI-1 levels above the median had a 3.4-fold increased likelihood of suffering from the comorbidity of long-term adverse mental symptoms and MetS, while no such associations were detected in women. In conclusion, our results suggest that in men high PAI-1 levels are independently associated with long-term mental symptomatology.

  14. Neurogenetic Impairments of Brain Reward Circuitry Links to Reward Deficiency Syndrome (RDS): Potential Nutrigenomic Induced Dopaminergic Activation

    Science.gov (United States)

    Blum, K; Oscar-Berman, M; Giordano, J; Downs, BW; Simpatico, T; Han, D; Femino, John

    2012-01-01

    Work from our laboratory in both in-patient and outpatient facilities utilizing the Comprehensive Analysis of Reported Drugs (CARD)™ found a significant lack of compliance to prescribed treatment medications and a lack of abstinence from drugs of abuse during active recovery. This unpublished, ongoing research provides an impetus to develop accurate genetic diagnosis and holistic approaches that will safely activate brain reward circuitry in the mesolimbic dopamine system. This editorial focuses on the neurogenetics of brain reward systems with particular reference to genes related to dopaminergic function. The terminology “Reward Deficiency Syndrome” (RDS), used to describe behaviors found to have an association with gene-based hypodopaminergic function, is a useful concept to help expand our understanding of Substance Use Disorder (SUD), process addictions, and other obsessive, compulsive and impulsive behaviors. This editorial covers the neurological basis of pleasure and the role of natural and unnatural reward in motivating and reinforcing behaviors. Additionally, it briefly describes the concept of natural dopamine D2 receptor agonist therapy coupled with genetic testing of a panel of reward genes, the Genetic Addiction Risk Score (GARS). It serves as a spring-board for this combination of novel approaches to the prevention and treatment of RDS that was developed from fundamental genomic research. We encourage further required studies. PMID:23264886

  15. Genetics Home Reference: cytochrome c oxidase deficiency

    Science.gov (United States)

    ... features known as Leigh syndrome . The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase ...

  16. Risk of Common Mental Disorders in Relation to Symptoms of Obstructive Sleep Apnea Syndrome among Ethiopian College Students.

    Science.gov (United States)

    Rutagarama, Ornella; Gelaye, Bizu; Tadesse, Mahlet G; Lemma, Seblewengel; Berhane, Yemane; Williams, Michelle A

    The Berlin and Epworth Sleepiness Scale (ESS) are simple, validated, and widely used questionnaires designed to assess symptoms of obstructive sleep apnea syndrome (OSAS) a common but often unrecognized cause of morbidity and mortality. A cross-sectional study was conducted among 2,639 college students to examine the extent to which symptoms of OSAS are associated with the odds of common mental disorders (CMDs). The General Health Questionnaire (GHQ-12) was used to evaluate the presence of CMDs while the Berlin and ESS were used to assess high-risk for obstructive sleep apnea (OSA) and excessive daytime sleepiness, respectively. Logistic regression procedures were used to derive odds ratios (OR) and 95% confidence intervals (CI) assessing the independent and joint associations of high-risk for OSA and excessive daytime sleepiness with odds of CMDs. Approximately 19% of students had high-risk for OSA while 26.4% had excessive daytime sleepiness. Compared to students without high-risk for OSA and without excessive daytime sleepiness (referent group), students with excessive daytime sleepiness only (OR=2.01; 95%CI: 1.60-2.52) had increased odds of CMDs. The odds of CMDs for students with high-risk OSA only was 1.26 (OR=1.26; 95%CI 0.94-1.68). Students with both high-risk for OSA and excessive daytime sleepiness, compared to the referent group, had the highest odds of CMDs (OR=2.45; 95%CI: 1.69-3.56). Our findings indicate that symptoms of OSAS are associated with increased risk of CMDs. These findings emphasize the comorbidity of sleep disorders and CMDs and suggest that there may be benefits to investing in educational programs that extend the knowledge of sleep disorders in young adults.

  17. The correlation between perceived social support and illness uncertainty in people with human immunodeficiency virus/acquired immune deficiency syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Moosa Sajjadi

    2015-01-01

    Full Text Available Background: Illness uncertainty is a source of a chronic and pervasive psychological stress for people living with human immunodeficiency virus (HIV/acquired immune deficiency syndrome (AIDS (PLWH, and largely affects their quality of life and the ability to cope with the disease. Based on the uncertainty in illness theory, the social support is one of the illness uncertainty antecedents, and influences the level of uncertainty perceived by patients. Aim: To examine uncertainty in PLWH and its correlation with social support in Iran. Materials and Methods: This cross-sectional correlational study was conducted with 80 PLWH presenting to AIDS Research Center, Tehran, Iran in 2013. The data collected using illness uncertainty and social support inventories were analyzed through Pearson′s correlation coefficient, Spearman′s correlation coefficient, and regression analysis. Results: The results showed a high level of illness uncertainty in PLWH and a negative significant correlation between perceived social support and illness uncertainty ( P = 0.01, r = -0.29. Conclusion: Uncertainty is a serious aspect of illness experience in Iranian PLWH. Providing adequate, structured information to patients as well as opportunities to discuss their concerns with other PLWH and receive emotional support from their health care providers may be worthwhile.

  18. Neuro-Genetics of Reward Deficiency Syndrome (RDS) as the Root Cause of "Addiction Transfer": A New Phenomenon Common after Bariatric Surgery.

    Science.gov (United States)

    Blum, Kenneth; Bailey, John; Gonzalez, Anthony M; Oscar-Berman, Marlene; Liu, Yijun; Giordano, John; Braverman, Eric; Gold, Mark

    2011-12-23

    Now after many years of successful bariatric (weight-loss) surgeries directed at the obesity epidemic clinicians are reporting that some patients are replacing compulsive overeating with newly acquired compulsive disorders such as alcoholism, gambling, drugs, and other addictions like compulsive shopping and exercise. This review article explores evidence from psychiatric genetic animal and human studies that link compulsive overeating and other compulsive disorders to explain the phenomenon of addiction transfer. Possibly due to neurochemical similarities, overeating and obesity may act as protective factors reducing drug reward and addictive behaviors. In animal models of addiction withdrawal from sugar induces imbalances in the neurotransmitters, acetylcholine and dopamine, similar to opiate withdrawal. Many human neuroimaging studies have supported the concept of linking food craving to drug craving behavior. Previously our laboratory coined the term Reward Deficiency Syndrome (RDS) for common genetic determinants in predicting addictive disorders and reported that the predictive value for future RDS behaviors in subjects carrying the DRD2 Taq A1 allele was 74%. While poly genes play a role in RDS, we have also inferred that disruptions in dopamine function may predispose certain individuals to addictive behaviors and obesity. It is now known that family history of alcoholism is a significant obesity risk factor. Therefore, we hypothesize here that RDS is the root cause of substituting food addiction for other dependencies and potentially explains this recently described Phenomenon (addiction transfer) common after bariatric surgery.

  19. Neuro-Genetics of Reward Deficiency Syndrome (RDS) as the Root Cause of “Addiction Transfer”: A New Phenomenon Common after Bariatric Surgery

    Science.gov (United States)

    Blum, Kenneth; Bailey, John; Gonzalez, Anthony M; Oscar-Berman, Marlene; Liu, Yijun; Giordano, John; Braverman, Eric; Gold, Mark

    2012-01-01

    Now after many years of successful bariatric (weight-loss) surgeries directed at the obesity epidemic clinicians are reporting that some patients are replacing compulsive overeating with newly acquired compulsive disorders such as alcoholism, gambling, drugs, and other addictions like compulsive shopping and exercise. This review article explores evidence from psychiatric genetic animal and human studies that link compulsive overeating and other compulsive disorders to explain the phenomenon of addiction transfer. Possibly due to neurochemical similarities, overeating and obesity may act as protective factors reducing drug reward and addictive behaviors. In animal models of addiction withdrawal from sugar induces imbalances in the neurotransmitters, acetylcholine and dopamine, similar to opiate withdrawal. Many human neuroimaging studies have supported the concept of linking food craving to drug craving behavior. Previously our laboratory coined the term Reward Deficiency Syndrome (RDS) for common genetic determinants in predicting addictive disorders and reported that the predictive value for future RDS behaviors in subjects carrying the DRD2 Taq A1 allele was 74%. While poly genes play a role in RDS, we have also inferred that disruptions in dopamine function may predispose certain individuals to addictive behaviors and obesity. It is now known that family history of alcoholism is a significant obesity risk factor. Therefore, we hypothesize here that RDS is the root cause of substituting food addiction for other dependencies and potentially explains this recently described Phenomenon (addiction transfer) common after bariatric surgery. PMID:23483116

  20. Refractory and/or Relapsing Cryptococcosis Associated with Acquired Immune Deficiency Syndrome: Clinical Features, Genotype, and Virulence Factors of Cryptococcus spp. Isolates.

    Science.gov (United States)

    Nascimento, Erika; Vitali, Lucia H; Tonani, Ludmilla; Kress, Marcia R Von Zeska; Takayanagui, Osvaldo M; Martinez, Roberto

    2016-05-04

    Refractory and relapsing crytocococcosis in acquired immune deficiency syndrome (AIDS) patients have a poor prognosis. The risk factors for this complicated infection course were evaluated by comparing refractory and/or relapsing cryptococcosis in human immunodeficiency virus-coinfected patients (cohort 1) with another group of AIDS patients who adequately responded to antifungals (cohort 2). Except for one isolate of Cryptococcus gattii from a cohort 2 case, all other isolates were identified as Cryptococcus neoformans var. grubii, sex type α, genotype VNI, including Cryptococcus reisolated from the relapse or in the refractory state. No differences were observed with respect to Cryptococcus capsule size and in the melanin and phospholipase production. The cohort 1 patients presented higher prevalence of cryptococcemia, cerebral dissemination, chronic liver disease, and leucopenia, and have increased death rate. Apparently, the refractory and/or relapsing cryptococcosis in the AIDS patients were more related to the host and the extent of the infection than to the fungal characteristics. © The American Society of Tropical Medicine and Hygiene.